748,603 results on '"diagnosis"'
Search Results
102. Feasibility of the Oricol™ Sampling Device to Retrieve Vagina Mucus (Wall) Samples for Genomic & Epigenetic Analysis. (Ellele-01)
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Royal Infirmary of Edinburgh
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- 2024
103. Efficacy of Using Large Language Model to Assist in Diabetic Retinopathy Detection
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Yingfeng Zheng, Professor
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- 2024
104. Cardiac Amyloidosis in HFpEF Tunisian Patients (Amy-Card)
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Lilia Zakhama, Professor
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- 2024
105. Prospective Acquisition of Cardiac Ultrasound Images at the Point of Care (POCUS_ACQ)
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- 2024
106. Design and synthesis of a novel chiral photoacoustic probe and accurate imaging detection of hydrogen peroxide in vivo.
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Wang, Shulong, Huang, Wenfang, Lin, Qingyan, Feng, Yinyin, Wei, Qingmin, Xu, Jiayao, Wang, Rong, and Luo, Zhihui
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ACOUSTIC imaging , *TECHNOLOGICAL innovations , *THERAPEUTICS , *CATALYTIC activity , *DIAGNOSIS - Abstract
Nanocatalytic medicine, which aims to accurately target and effectively treat tumors through intratumoral in situ catalytic reactions triggered by tumor-specific environments or markers, is an emerging technology. However, the relative lack of catalytic activity of nanoenzymes in the tumor microenvironment (TME) has hampered their use in biomedical applications. Therefore, it is crucial to develop a highly sensitive probe that specifically responds to the TME or disease markers in the TME for precision diagnosis and treatment of diseases. In this work, a chiral photoacoustic (PA) nanoprobe (D/L-Ce@MoO3) based on the H2O2-catalyzed TME activation reaction was constructed in a one-step method using d-cysteine (D-Cys) or l-cysteine (L-Cys), polymolybdate, and cerium nitrate as raw materials. The designed and synthesized D/L-Ce@MoO3 chiral nanoprobe can perform in situ, non-invasive, and precise imaging of pharmacological acute liver injury. In vivo and in vitro experiments have shown that the D/L-Ce@MoO3 probe had chiral properties, the CD signal decreased upon reaction with H2O2, and the absorption and PA signals increased with increasing H2O2 concentration. This is because of the catalytic reaction between Ce ions doped in the nanoenzyme and the high expression of H2O2 caused by drug-induced liver injury to produce ·OH, which has a strong oxidizing property to kill tumor cells and destroy the Mo-S bond in the probe, thus converting the chiral probe into an achiral polyoxometalate (POM) with PA signal. [ABSTRACT FROM AUTHOR]
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- 2024
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107. Dynamic undirected graphical models for time‐varying clinical symptom and neuroimaging networks.
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McDonnell, Erin I., Xie, Shanghong, Marder, Karen, Cui, Fanyu, and Wang, Yuanjia
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HUNTINGTON disease , *TIME-varying networks , *BRAIN imaging , *DIAGNOSIS , *LEAD time (Supply chain management) - Abstract
In this work, we propose methods to examine how the complex interrelationships between clinical symptoms and, separately, brain imaging biomarkers change over time leading up to the diagnosis of a disease in subjects with a known genetic near‐certainty of disease. We propose a time‐dependent undirected graphical model that ensures temporal and structural smoothness across time‐specific networks to examine the trajectories of interactions between markers aligned at the time of disease onset. Specifically, we anchor subjects relative to the time of disease diagnosis (anchoring time) as in a revival process, and we estimate networks at each time point of interest relative to the anchoring time. To use all available data, we apply kernel weights to borrow information across observations that are close to the time of interest. Adaptive lasso weights are introduced to encourage temporal smoothness in edge strength, while a novel elastic fused‐l0$$ {l}_0 $$ penalty removes spurious edges and encourages temporal smoothness in network structure. Our approach can handle practical complications such as unbalanced visit times. We conduct simulation studies to compare our approach with existing methods. We then apply our method to data from PREDICT‐HD, a large prospective observational study of pre‐manifest Huntington's disease (HD) patients, to identify symptom and imaging network changes that precede clinical diagnosis of HD. [ABSTRACT FROM AUTHOR]
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- 2024
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108. Radial extracorporeal shock wave therapy as an additional treatment modality for spastic equinus deformity in chronic hemiplegic patients. A randomized controlled study.
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Nada, Doaa Waseem, El Sharkawy, Amira Mohamed, Elbarky, Elham Mahmoud, Rageh, El Sayed Mohamed, and Allam, Abdallah El Sayed
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REPEATED measures design , *DORSIFLEXION , *STRETCH (Physiology) , *MEASUREMENT of angles (Geometry) , *T-test (Statistics) , *DATA analysis , *HEMIPLEGIA , *STATISTICAL sampling , *BLIND experiment , *EXERCISE therapy , *TREATMENT effectiveness , *RANDOMIZED controlled trials , *DESCRIPTIVE statistics , *ORAL drug administration , *CHI-squared test , *DIAGNOSIS , *GAIT in humans , *SPASTICITY , *LONGITUDINAL method , *PHENYLPROPANOLAMINE , *ELECTROMYOGRAPHY , *COMBINED modality therapy , *STROKE rehabilitation , *ANALYSIS of variance , *STATISTICS , *STROKE , *EQUINUS deformity , *ULTRASONIC therapy , *STROKE patients , *COMPARATIVE studies , *DATA analysis software , *RANGE of motion of joints , *ACTIVITIES of daily living , *DISEASE complications - Abstract
Purpose: To evaluate the effectiveness of radial extracorporeal shock wave therapy (r ESWT) as an additional treatment modality for spastic equinus deformity in chronic hemiplegic patients. Methods: 100 eligible stroke patients with calf muscles spasticity were randomized into 2 groups. Group I: 50 patients exposed to rESWT 1.500 pulses, 0.10 mJ to 0.3mJ/mm2, with a frequency 4 Hz once weekly for one month. Group II: 50 patients exposed to Sham rESWT once weekly for one month. Clinical, electrophysiological & musculoskeletal ultrasound assessments were done for all patients. Results: After controlling baseline as covariate, the trend for modified Ashworth scale (MAS), Passive ankle dorsiflexion motion (PADFM), 10 meters walk test (10-MWT), and Ratio of maximum H reflex to maximum M response (H/M ratio) after one & two months was significantly different between the two groups, with improvement of all clinical and electrophysiological parameters in group I. Conclusion: ESWT represents a useful non-invasive, additional modality for the reduction of foot spasticity and equinus deformity in stroke patients. Implications for Rehabilitation: Extracorporeal shock wave therapy represents a useful non-invasive, additional modality for reduction of foot spasticity and equinus deformity in chronic stroke patients. The application of such a modality improves limb posture, range of motion, and muscle extensibility. Early extracorporeal shock wave rehabilitative intervention in stroke patients reduces fat infiltration and fibrosis replacement of spastic muscle. [ABSTRACT FROM AUTHOR]
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- 2024
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109. Imaging approach to pediatric calvarial bulges.
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Hughes, Emily C. M., Rosenbaum, Daniel G., Branson, Helen M., Tshuma, Makabongwe, Marie, Eman, Frayn, Cassidy S., Rajani, Heena, and Gerrie, Samantha K.
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HUMAN abnormalities , *DIFFERENTIAL diagnosis , *RADIOLOGISTS , *DIAGNOSIS , *PATHOLOGY - Abstract
Palpable calvarial lesions in children may require multi-modality imaging for adequate characterization due to non-specific clinical features. Causative lesions range from benign incidental lesions to highly aggressive pathologies. While tissue sampling may be required for some lesions, others have a typical imaging appearance, and an informed imaging approach facilitates diagnosis. This review illustrates imaging findings of common and clinically important focal pediatric calvarial bulges to aid the radiologist in narrowing the differential diagnosis and directing appropriate referral. We focus on birth-related lesions, congenital abnormalities, and modeling disturbances (i.e., those that produce a change in calvarial contour early in development), normal variants, and neoplastic lesions with their mimics. [ABSTRACT FROM AUTHOR]
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- 2024
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110. A case of anterior fibroneural stalk, cervicothoracic junction anomaly, enteric duplication cyst, and diaphragmatic hernia: validation of a recently reported notochordal development disorder with pre- and postnatal multimodality imaging.
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Nicklason, Eleanor A., Dickinson, Jan E., and Lakshmanan, Rahul
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DIAPHRAGMATIC hernia , *GESTATIONAL age , *CYSTS (Pathology) , *DIAGNOSIS , *SYNDROMES - Abstract
The syndrome of anterior fibroneural stalk, vertebral anomaly, enteric duplication cyst, and diaphragmatic hernia is a manifestation of abnormal notochordal development due to persistence of the neurenteric canal beyond early fetal gestational age. Our description of the third such published case to date supports this novel tetralogy and further illustrates the role of both pre- and postnatal imaging in achieving the diagnosis. [ABSTRACT FROM AUTHOR]
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- 2024
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111. Machine learning modeling to predict causes of infectious abortions and perinatal mortalities in cattle.
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Villa-Cox, G., Van Loo, H., Speelman, S., Ribbens, S., Hooyberghs, J., Pardon, B., Opsomer, G., and Bogado Pascottini, O.
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MACHINE learning , *ABORTION , *ANIMAL herds , *CATTLE , *NEOSPORA caninum - Abstract
A plethora of infectious and non-infectious causes of bovine abortions and perinatal mortalities (APM) have been reported in literature. However, due to financial limitations or a potential zoonotic impact, many laboratories only offer a standard analytical panel, limited to a preestablished number of pathogens. To improve the cost-efficiency of laboratory diagnostics, it could be beneficial to design a targeted analytical approach for APM cases, based on maternal and environmental characteristics associated with the prevalence of specific abortifacient pathogens. The objective of this retrospective observational study was to implement a machine learning pipeline (MLP) to predict maternal and environmental factors associated with infectious APM. Our MLP based on a greedy ensemble approach incorporated a standard tuning grid of four models, applied on a dataset of 1590 APM cases with a positive diagnosis that was achieved by analyzing an extensive set of abortifacient pathogens. Production type (dairy/beef), gestation length, and season were successfully predicted by the greedy ensemble, with a modest prediction capacity which ranged between 63 and 73 %. Besides the predictive accuracy of individual variables, our MLP hierarchically identified predictor importance causes of associated environmental/maternal characteristics of APM. For instance, in APM cases that happened in beef cows, season at APM (spring/summer) was the most important predictor with a relative importance of 24 %. Furthermore, at the last trimester of gestation Trueperella pyogenes and Neospora caninum were the most important predictors of APM with a relative importance of 22 and 17 %, respectively. Interestingly, herd size came out as the most relevant predictor for APM in multiparous dams, with a relative importance of 12 %. Based on these and other mix of predicted environmental/maternal and pathogenic potential causes, it could be concluded that implementing our MLP may be beneficial to design a more cost-effective, case-specific diagnostic approach for bovine APM cases at the diagnostic laboratory level. • We implement a MLP to predict maternal and environmental factors associated with infectious bovine APM. • Our greedy ensemble approach incorporates a standard tuning grid of four machine learning models. • The MLP correctly predicted production type (beef vs. dairy), gestation length, and season at a range of 63 to 73 %. • Implementation of a MLP allows a cost-effective, case-specific diagnostic approach for bovine APM cases. [ABSTRACT FROM AUTHOR]
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- 2024
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112. CEUS in the diagnosis of renal masses.
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Ochyra, Łukasz and Łopuszyńska, Anna
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CONTRAST-enhanced ultrasound ,CONTRAST media ,DIAGNOSIS ,DIAGNOSTIC imaging ,SCIENCE databases ,KEYWORDS - Abstract
Introduction and purpose Contrast enhanced ultrasound (CEUS) is a modern diagnostic method that uses ultrasound waves in combination with intravenous administration of a contrast agent. It enables obtaining high resolution and assessing microcirculation in real time, thanks to which the researcher is able to analyze the enhancement and its features, which may help in diagnosing a specific pathology. Contrast agents, similar to CT and MRI, show specific phases of enhancement after administration - arterial, venous, delayed. Their additional advantage is safety, especially for patients with impaired kidney and thyroid function, and causing fewer allergic reactions. The aim of this review is to present the CEUS examination technique and the latest reports in the field of diagnosis of renal lesions. Material and methods This review was prepared based on the literature available from recent years in the PubMed and Google Scholar scientific databases using the keywords: ultrasonography, contrast enhanced ultrasonography, kidney, renal masses. Results Studies show that CEUS can be an effective method for imaging both cystic and solid lesions in the kidney. When using a contrast agent, the lesions show characteristic features that can guide the investigator to the diagnosis. Moreover, in comparative analyses, CEUS achieved comparable or better results than other diagnostic imaging methods. Conclusions CEUS is a modern and promising diagnostic method that can successfully compete with CT and MRI. Moreover, the metabolism and pharmacokinetics of contrast agents and their safety mean that CEUS can be used for the diagnosis of unclear pathologies in elderly patients, as well as for the control and supervision of changes that require frequent imaging. [ABSTRACT FROM AUTHOR]
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- 2024
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113. Munchausen syndrome by proxy - diagnostic problems of unusal somatic disorder.
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Matuszewska, Justyna, Babkiewicz-Jahn, Kamila, Szymańska, Adrianna, Wilanowska, Wiktoria, Oleksak, Izabela, Maliszewska, Karolina, and Załęska, Natalia
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MEDICAL terminology ,PSYCHOTHERAPY ,CAREGIVERS ,SYNDROMES ,PHYSICIANS ,CHILD care ,CHILD abuse ,PARENT-child relationships - Abstract
Introduction and purpose Munchausen syndrome by proxy is a factitious disorder characterized by the search for and induction of somatic symptoms, the falsification of laboratory results, and even the mutilation of a loved one, usually a child, by a parent or caregiver. Paediatricians often only have information about the child's condition from an interview with the child's guardian, so it is very important to differentiate feigned disorders from real, sometimes difficult to diagnose, cases of illness. We may suspect them if the parent reports unusual symptoms in the child, insinuates further treatments and hospital stays, has above-average knowledge of medical terminology, and is aggressive towards the staff. Prominent among the causes of Munchausen syndrome by proxy are first and foremost the desire to focus the parent/carer's attention on themselves and the expectation of recognition for their care and concern for the child. Methods and materials The following review was based on articles from the PubMed and Google Scholar databases. Key search terms included munchausen syndrome, munchausen syndrome by proxy, treatment, diagnosis, paediatric condition falsification, factitious disorder. Conclusions Due to the nature of this disorder, physicians of different specialities may come across it during their practice. Increasing their knowledge on this topic and the effects of Munchausen syndrome by proxy will allow the correct diagnosis to be established and appropriate psychiatric therapy with psychological care to be introduced, as well as protecting children who are victims of the actions of their caregivers. [ABSTRACT FROM AUTHOR]
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- 2024
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114. The NewGait Rehabilitative Device Corrects Gait Deviations in Individuals With Foot Drop.
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Ustinova, Ksenia I., Langenderfer, Joseph E., and Seixas, Aderito
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ANKLE physiology , *PERIPHERAL neuropathy , *DORSIFLEXION , *MULTIPLE sclerosis , *RESEARCH funding , *DATA analysis , *T-test (Statistics) , *REHABILITATION , *KINEMATICS , *STATISTICAL sampling , *PARAMETERS (Statistics) , *MOVEMENT disorders , *DIAGNOSIS , *GAIT in humans , *WEARABLE technology , *ORTHOPEDIC apparatus , *DESCRIPTIVE statistics , *QUANTITATIVE research , *RANDOMIZED controlled trials , *REHABILITATION of foot abnormality patients , *WALKING , *MATHEMATICAL statistics , *RESEARCH methodology , *ONE-way analysis of variance , *STATISTICS , *STROKE , *FOOT orthoses , *COMPARATIVE studies , *DATA analysis software , *MOTION capture (Human mechanics) , *NONPARAMETRIC statistics - Abstract
The purpose of this quasiexperimental study was to test the effects of wearing the NewGait rehabilitative device on walking abilities in individuals with foot drop. The study involved 16 participants with foot drops caused by stroke (11 participants), multiple sclerosis (one participant), and peripheral neuropathies (four individuals). During a single testing session, participants walked 12 m at their self‐selected speed in four experimental conditions: walking without any orthotic device; walking while wearing a regular plastic posterior leaf ankle foot orthosis (AFO); walking with the NewGait device assisting ankle dorsiflexion only; and walking with the NewGait device assisting the hip, knee, and ankle joint motions. Body motions during walking were recorded using a 3D system for motion analysis and analyzed with a set of spatiotemporal and kinematic parameters and a gait decomposition index. The gait decomposition index indicated sagittal interjoint coordination in the three joint pairs (hip–knee, knee–ankle, and hip–ankle) of the paretic (foot drop) leg during walking and was validated in a previous study. Overall, wearing all three orthotic devices improved the gait velocity, ankle dorsiflexion, and foot clearance compared to gait trials in which no assistive devices were used. However, wearing the AFO significantly restricted the plantarflexion range of motion and decreased interjoint coordination as measured by joint decomposition. In contrast, the NewGait device altered the ankle plantarflexion motions but also increased coordinated movement (reduced the decomposition) in most lower‐extremity joint pairs and conditions. Therefore, the NewGait rehabilitative device can be considered superior to a regular AFO in correcting gait deviations caused by foot drop. [ABSTRACT FROM AUTHOR]
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- 2024
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115. Pulp Sensitivity Testing in Multiple Sclerosis: Disease Duration and Sensory/Motor Associations—A Cross‐Sectional Study.
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Owlia, Fatemeh, Noori, Fereshteh, Zarchi, Marzieh Abutorabi, Kazemipoor, Maryam, and Orton, Sarah
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Introduction: This study explores a relatively unexplored aspect of multiple sclerosis (MS) by examining the sensitivity threshold of dental pulp as a potential indicator of neuropathy in MS patients. Building upon earlier research that focused on assessing the response to electrical pulp testing in MS patients who did not have a history of trigeminal neuralgia, this survey is aimed at delving into the relationship between MS duration and the threshold for stimulation in response to pulp sensitivity tests. Materials and Methods: This study encompassed a total of 124 maxillary central incisors from patients diagnosed with relapsing‐remitting multiple sclerosis (RRMS). The participants were uniform in terms of age, falling within the 18–50 years range, and all had RRMS with no history of trigeminal neuralgia. The electric pulp sensitivity test was conducted on all samples, and the results of the electric pulp testing (EPT) were recorded according to the grade of the pulp tester that elicited a response. The threshold was considered reached when the patient first experienced a burning sensation after EPT application and the use of 1,1,1,2‐tetrafluoroethane spray. Data analysis employed paired t‐tests, Fisher's exact test, and Spearman correlation, with a significance level set at p < 0.05. Results: Based on the study's findings, the average response value to EPT was 2.69 ± 1.17, while the response time to the cold test was 2.61 ± 1.03 s. There was no statistically significant difference in the response to the cold test based on age (p = 0.45). However, it was observed that the mean response time to the cold test was significantly longer among male participants (p = 0.001). No significant differences were identified in the pulpal response to EPT or the cold test between patients with and without sensory‐motor involvement (p > 0.05). Furthermore, Spearman's analysis revealed a noteworthy positive correlation between the electrical pulp threshold and the time taken to respond to the cold test (p = 0.025, r = 0.2). Conclusions: The utilization of the pulpal sensitivity test in MS patients holds promise for practical clinical use. Notably, individuals with a more extended duration of the disease exhibited a notably elevated threshold for both the EPT and the cold test conducted on their maxillary central incisors. [ABSTRACT FROM AUTHOR]
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- 2024
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116. Spontaneous rupture and hemorrhage of renal epithelioid angiomyolipoma misdiagnosed to renal carcinoma: a case report.
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Zhang, Wenhao, Jin, Xiaodong, Wang, Chundan, Jiang, Shaobo, Yan, Jiasheng, and Li, Yubing
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Background: Renal epithelioid angiomyolipoma is a rare and unique subtype of classic angiomyolipoma, characterized by the presence of epithelioid cells. It often presents with nonspecific symptoms and can be easily misdiagnosed due to its similarity to renal cell carcinoma and classic angiomyolipoma in clinical and radiological features. This case report is significant for its demonstration of the challenges in diagnosing epithelioid angiomyolipoma and its emphasis on the importance of accurate differentiation from renal cell carcinoma and classic angiomyolipoma. Case presentation: A 58-year-old Asian female presented with sudden left flank pain and was initially diagnosed with a malignant renal tumor based on imaging studies. She underwent laparoscopic radical nephrectomy, and postoperative histopathology confirmed the diagnosis of epithelioid angiomyolipoma. The patient recovered well and is currently in good health with regular follow-ups. This case highlights the diagnostic challenges, with a focus on the clinical, radiological, and histopathological features that eventually led to the identification of epithelioid angiomyolipoma. Conclusions: Epithelioid angiomyolipoma is easily misdiagnosed in clinical work. When dealing with these patients, it is necessary to make a comprehensive diagnosis based on clinical symptoms, imaging manifestations, and pathological characteristics. [ABSTRACT FROM AUTHOR]
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- 2024
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117. Real-time PCR for malaria diagnosis and identification of Plasmodium species in febrile patients in Cubal, Angola.
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Mediavilla, Alejandro, Silgado, Aroa, Febrer-Sendra, Begoña, Crego-Vicente, Beatriz, Martínez-Vallejo, Patricia, Maturana, Carles Rubio, Goterris, Lidia, Nindia, Arlette, Martínez-Campreciós, Joan, Aixut, Sandra, Aznar-Ruiz-de-Alegría, María Luisa, Fernández-Soto, Pedro, Muro, Antonio, Salvador, Fernando, Molina, Israel, Berzosa, Pedro, Oliveira-Souto, Inés, and Sulleiro, Elena
- Abstract
Background: Malaria is the parasitic disease with the highest morbimortality worldwide. The World Health Organization (WHO) estimates that there were approximately 249 million cases in 2022, of which 3.4% were in Angola. Diagnosis is based on parasite identification by microscopy examination, antigen detection, and/or molecular tests, such as polymerase chain reaction (PCR). This study aimed to evaluate the usefulness of real-time PCR as a diagnostic method for malaria in an endemic area (Cubal, Angola). Methods: A cross-sectional study was carried out at the Hospital Nossa Senhora da Paz in Cubal, Angola, including 200 patients who consulted for febrile syndrome between May and July 2022. From each patient, a capillary blood sample was obtained by finger prick for malaria field diagnosis [microscopy and rapid diagnostic test (RDT)] and venous blood sample for real-time PCR performed at the Hospital Universitario Vall d'Hebron in Barcelona, Spain. Any participant with a positive result from at least one of these three methods was diagnosed with malaria. Results: Of the 200 participants included, 54% were female and the median age was 7 years. Malaria was diagnosed by at least one of the three techniques (microscopy, RDT, and/or real-time PCR) in 58% of the participants, with RDT having the highest percentage of positivity (49%), followed by real-time PCR (39.5%) and microscopy (33.5%). Of the 61 discordant samples, 4 were only positive by microscopy, 13 by real-time PCR, and 26 by RDT. Plasmodium falciparum was the most frequent species detected (90.63%), followed by P. malariae (17.19%) and P. ovale (9.38%). Coinfections were detected in ten participants (15.63%): six (60%) were caused by P. falciparum and P. malariae, three (30%) by P. falciparum and P. ovale, and one (10%) triple infection with these three species. In addition, it was observed that P. falciparum and P. malariae coinfection significantly increased the parasite density of the latter. Conclusions: RDT was the technique with the highest positivity rate, followed by real-time PCR and microscopy. The results of the real-time PCR may have been underestimated due to suboptimal storage conditions during the transportation of the DNA eluates. However, real-time PCR techniques have an important role in the surveillance of circulating Plasmodium species, given the epidemiological importance of the increase in non-falciparum species in the country, and can provide an estimate of the intensity of infection. [ABSTRACT FROM AUTHOR]
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- 2024
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118. Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
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Wang, Chiuhui Mary, Whiting, Amy Heagle, Rath, Ana, Anido, Roberta, Ardigò, Diego, Baynam, Gareth, Dawkins, Hugh, Hamosh, Ada, Le Cam, Yann, Malherbe, Helen, Molster, Caron M., Monaco, Lucia, Padilla, Carmencita D., Pariser, Anne R., Robinson, Peter N., Rodwell, Charlotte, Schaefer, Franz, Weber, Stefanie, and Macchia, Flaminia
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Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for actions. A multi-stakeholder, global panel of rare disease experts, came together and developed an Operational Description of Rare Diseases. This reference describes which diseases are considered rare, how many persons are affected and why the rare disease population demands specific attention. The operational description of rare diseases is framed in two parts: a core definition of rare diseases, complemented by a descriptive framework of rare diseases. The core definition includes parameters that permit the identification of which diseases are considered rare, and how many persons are affected. The descriptive framework elaborates on the impact and burden of rare diseases on patients, their caregivers and families, healthcare systems, and society overall. The Operational Description of Rare Diseases establishes a common point of reference for decision-makers across the world who strive to understand and address the unmet needs of persons living with a rare disease. Adoption of this reference is essential to improving the visibility of rare conditions in health systems across the world. Greater recognition of the burden of rare diseases will motivate new actions and policies to address the unmet needs of the rare disease community. [ABSTRACT FROM AUTHOR]
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- 2024
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119. Gender bias in assessing narcissistic personality: Exploring the utility of the ICD‐11 dimensional model.
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Green, A., Day, N. J. S., Hart, C. M., Grenyer, B. F. S., and Bach, B.
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Objectives Methods Results Conclusion Narcissistic personality disorder as captured in categorical diagnostic systems (e.g., DSM‐5) emphasizes grandiose features more associated with masculine norms and under‐emphasizes vulnerable features more associated with femininity. This poses significant implications in diagnostic outcome and clinical treatment in women with narcissistic preoccupations. Research finds that clinicians using the DSM‐5 categorical system tend to diagnose vulnerable narcissism in women as other ‘feminized’ personality disorders (e.g., borderline), but no research has explored gender differences in narcissism using the new ICD‐11 dimensional framework for personality disorders. This study investigated the clinical utility of the ICD‐11 approach in capturing gender differences in narcissistic presentations.Adopting an online vignette‐based study, mental health clinicians (N = 157; 71.3% female) completed ratings of ICD‐11 personality disorder severity and trait domains for two cases reflecting ‘grandiose’ and ‘vulnerable’ narcissism in hypothetical male or female patients.The results showed that ratings of core impairments in personality functioning and overall severity were consistent irrespective of patient or clinician gender, contrasting prior research using categorical models.While some differences were observed in trait domain (e.g., negative affectivity) between patient gender, these results suggest the clinical utility of the ICD‐11 model as emphasizing elements of personality functioning in the process of assessment and diagnosis, therefore potentially being less susceptible to influences of gender stereotype in aiding clinical conceptualization. [ABSTRACT FROM AUTHOR]
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- 2024
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120. Challenges in diagnosis of clinical and subclinical Plasmodium falciparum infections in Ghana and feasibility of reactive interventions to shrink the subclinical reservoir.
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Reynders, Madeline, Tweneboah, Austine, Abbas, Dawood Ackom, Opoku Afriyie, Stephen, Nketsiah, Stephen Nelly, Badu, Kingsley, and Koepfli, Cristian
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RAPID diagnostic tests , *ENDEMIC diseases , *PUBLIC hospitals , *MALARIA prevention , *MEDICAL centers - Abstract
Background: Reactive case detection (RCD) aims to reduce malaria transmission stemming from asymptomatic carriers. Symptomatic individuals diagnosed with malaria at a health centre are followed to their households, where members of the index case and neighbouring households are tested and treated for malaria. An RCD programme was tested in the Ashanti region of Ghana in order to study diagnostic accuracy in the hospital and household settings, assess the prevalence of subclinical infections and possible clustering in index case households, and identify operational challenges for future RCD programmes. Currently, transmission in this region is high, but reactive interventions might become an option once transmission is reduced. Methods: 264 febrile individuals were enrolled at the Mankranso Government Hospital and tested for malaria using rapid diagnostic tests (RDT). From the pool of RDT-positive febrile index cases, 14 successful RCD follow-ups were conducted, and 233 individuals were enrolled from the index case, neighbour, and control households. The sensitivity of diagnostic tools for clinical and subclinical cases was compared, including RDT, expert microscopy by World Health Organization-certified microscopists, field microscopy, and qPCR. Results: Poor diagnosis and low receptivity to RCD-style follow-ups were major limitations to a successful and effective RCD programme. Field microscopy detected only 49% of clinical infections compared to RDT. 54% of individuals did not agree to a follow-up, and 66% of attempted follow-ups failed. The system effectiveness of RCD, calculated as the product of correctly diagnosed index cases, successful follow-ups, and proportion of asymptomatic infections detected by RDT, was very low at 4.0%. Conclusions: Due to low system effectiveness and the endemic nature of the disease setting in which asymptomatic prevalence is high and infections are not clustered around index case households, RCD is currently not a feasible option for malaria control in this region. The operational challenges identified through this study may help inform future reactive intervention programme designs once transmission is reduced. [ABSTRACT FROM AUTHOR]
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- 2024
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121. Diagnosis and management of bacterial meningitis in adult Sudanese patients: a six years hospital based, retrospective, cross-sectional study.
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Hamadalneel, Yousif B., Mohammed, Ahmed M., Ahmed, Saad T., Yousef, Alfatih A., Mohammed, Mohammed T., and Alamin, Marwa F.
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LUMBAR puncture , *TEACHING hospitals , *BACTERIAL meningitis , *COMMUNICABLE diseases , *ADULTS , *MENINGITIS - Abstract
Purpose: To evaluate the diagnosis and management of bacterial meningitis in adult Sudanese patients in accordance with the Infectious Diseases Society of America (IDSA) guidelines for bacterial meningitis management. Patients and methods: A cross-sectional, retrospective study design was used to recruit all patients aged > 18 years who were diagnosed with or suspected of having bacterial meningitis and admitted to Wad Medani Teaching Hospital, Gezira State, Sudan, between January 2017 and October 2022. Results: In total, 201 patients were included in the analysis. The mean age of the participants was 44.1 ± 21.4 years, and 107 (53.2%) were male. Community-acquired bacterial meningitis accounted for 193 (96%) of the studied patients, and only 8 (4%) of the patients had healthcare-associated meningitis. Neuroimaging was utilized appropriately in 148 (73.6%) patients, blood cultures were not performed entirely, and lumbar puncture was seldom performed in 1 (0.5%) patient. Corticosteroids were appropriately administered to 65 (32.3%) patients, and antibiotics were administered appropriately to only 5 (2.5%) patients. Ceftriaxone 185 (76.1%) was the most frequently utilized antibiotic, followed by vancomycin 23 (9.5%). In terms of overall adherence, this study demonstrated that the IDSA guidelines were not followed at all in the treatment of patients with suspected bacterial meningitis. Conclusion: The results of this study contradict the IDSA guidelines for the standard of care for bacterial meningitis. Antibiotic regimens are often incorrect, corticosteroids are administered appropriately in approximately one-third of patients, and neuroimaging is reasonably utilized. This study raises attention to several important issues regarding the diagnosis of bacterial meningitis, including the lack of confirming microbiological tests and the reliance of the diagnosis primarily on CT and clinical examination. [ABSTRACT FROM AUTHOR]
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- 2024
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122. Integrating chemokines and machine learning algorithms for diagnosis and bleeding assessment in primary immune thrombocytopenia: A prospective cohort study.
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Wen, Qing, Sun, Ting, Chen, Jia, Li, Yang, Liu, Xiaofan, Li, Huiyuan, Fu, Rongfeng, Liu, Wei, Xue, Feng, Ju, Mankai, Dong, Huan, Dai, Xinyue, Wang, Wentian, Chi, Ying, Yang, Renchi, Chen, Yunfei, and Zhang, Lei
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MACHINE learning , *IDIOPATHIC thrombocytopenic purpura , *AUTOIMMUNE diseases , *CHEMOKINES , *THROMBOCYTOPENIA - Abstract
Summary Primary immune thrombocytopenia (ITP) is an autoimmune bleeding disorder, and chemokines have been shown to be dysregulated in autoimmune disorders. We conducted a prospective analysis to identify potential chemokines that could enhance the diagnostic accuracy and bleeding evaluation in ITP patients. In the discovery cohort, a Luminex‐based assay was employed to quantify concentrations of plasma multiple chemokines. These levels were subjected to comparative analysis using a cohort of 60 ITP patients and 17 patients with thrombocytopenia other than ITP (non‐ITP). Additionally, comparative evaluation was conducted between a subgroup of 12 ITP patients characterised by bleeding episodes (ITP‐B, as defined by an ITP‐2016 bleeding grade ≥2) and 33 ITP patients without bleeding episodes (ITP‐NB, as defined by an ITP‐2016 bleeding grade ≤1). Machine learning algorithms further identified CCL20, interleukin‐2, CCL26, CCL25, and CXCL1 as promising indicators for accurate diagnosis of ITP and CCL21, CXCL8, CXCL10, CCL8, CCL3, and CCL15 as biomarkers for assessing bleeding risk in ITP patients. The results were confirmed using enzyme‐linked immunosorbent assays in a validation cohort (43 ITP patients and 19 non‐ITP patients). Overall, the findings suggest that specific chemokines show promise as potential biomarkers for diagnosis and bleeding evaluation in ITP patients. [ABSTRACT FROM AUTHOR]
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- 2024
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123. Role of liver biopsy in the management of idiosyncratic DILI.
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Kleiner, David E.
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AUTOIMMUNE hepatitis , *LIVER biopsy , *BILE ducts , *DIAGNOSIS , *LIVER injuries - Abstract
Drug‐induced liver injury (DILI) presents unique challenges in clinical practice. While some types of DILI are mild and resolve quickly after removing the drug, other situations are more complex, with competing aetiologies or underlying liver disease. Guidelines from professional societies agree that the liver biopsy retains a role in understanding and managing DILI in certain situations. Liver biopsy allows characterization of the histological pattern of injury as well as assessment of severity. Inflammatory infiltrates, bile duct injury or loss and vascular injury are all revealed by liver biopsy. Communication between the hepatopathologist and clinical team with clinicopathological correlation of the findings is necessary for the best determination of causality and differentiation from other diseases of exclusion, like autoimmune hepatitis and graft‐versus‐host disease. This review highlights important aspects of the role of liver biopsy in DILI evaluation. [ABSTRACT FROM AUTHOR]
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- 2024
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124. Implications of the shift to DSM‐5 for alcohol use disorder prevalence estimates in the National Survey on Drug Use and Health.
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Bailey, Allen J., Quinn, Patrick D., and McHugh, R. Kathryn
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ALCOHOLISM , *MENTAL health services administration , *BINGE drinking , *SUBSTANCE abuse , *DRINKING behavior - Abstract
Background and aims Methods Results Conclusions The Substance Abuse and Mental Health Services Administration's annual National Survey on Drug Use and Health (NSDUH) is a commonly used source for estimating trends in alcohol use disorders (AUD) in the United States. From 2015 to 2019 the annual prevalence of people diagnosed with either Diagnostic and Statistical Manual 4th edition (DSM‐IV) alcohol abuse or dependence ranged from 5.3 to 5.9%. More recent estimates, using the DSM 5th edition (DSM‐5) AUD diagnostic formulation, have been higher, with AUD base rates ranging from 10.1 to 10.7% from 2020 to 2022. This study aimed to compare the past 12‐month base rates of AUD in the United States general population when using the DSM‐5 versus DSM‐IV AUD (i.e. abuse or dependence) and assess the AUD severity of individuals captured with each diagnostic formulation using DSM‐5 AUD symptom counts.We examined descriptive trends in the rate of past‐year NSDUH AUD diagnoses from 2015 to 2022. We contrasted them with trends in drinking behavior: the percentage of individuals who had ever reported drinking and the number of drinking days and binge drinking days for those who drink. We also analyzed the concordance between DSM‐IV and DSM‐5 AUD diagnoses in the 2020 NSDUH, which concurrently assessed AUD with both diagnostic formulations.The transition to DSM‐5 AUD formulation coincided with a drastic increase in AUD prevalence rates that occurred without increases in drinking behavior. In 2020 NSDUH data, the estimated past‐year DSM‐5 AUD prevalence rate was 10.1% compared with a 5.4% rate of past‐year DSM‐IV abuse or dependence. The DSM‐5 AUD formulation captured more mild‐severity individuals than the DSM‐IV formulation.Higher recent base rates of alcohol use disorders (AUD) in the National Survey on Drug Use and Health are likely, at least partially, explained by measurement changes in AUD; specifically, the shift from DSM‐IV abuse or dependence to DSM‐5 AUD. The DSM‐5 formulation appears substantially more inclusive than the DSM‐IV formulation, leading to a larger number of mild severity individuals being captured. [ABSTRACT FROM AUTHOR]
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- 2024
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125. The contribution of cognitive reserve in explaining the dual-task walking performance in iNPH patients: comparison with other cognitive, functional, and socio-demographic variables.
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Piche, Elodie, Armand, Stephane, Allali, Gilles, and Assal, Frederic
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HYDROCEPHALUS ,RESEARCH funding ,TASK performance ,DISEASE duration ,SEX distribution ,DIAGNOSIS ,GAIT in humans ,TERTIARY care ,RETROSPECTIVE studies ,FUNCTIONAL status ,AGE distribution ,LONGITUDINAL method ,MEDICAL records ,ACQUISITION of data ,WALKING speed ,COMPARATIVE studies ,SOCIODEMOGRAPHIC factors ,PSYCHOLOGICAL tests ,COGNITION ,BIOMARKERS ,PEOPLE with disabilities ,REGRESSION analysis ,PHYSICAL activity ,COMORBIDITY - Abstract
Background: Idiopathic normal pressure hydrocephalus (iNPH) is a prevalent neurological disorder, but its diagnosis remains challenging. Dual-task (DT) walking performance is a reliable indicator of iNPH but less is known about the role of cognitive reserve (CR) in predicting DT walking performance. Aims: The objective of this study was to evaluate the contribution of CR on DT walking in healthy controls (HC) and in iNPH patients (iNPH-P). Methods: 68 iNPH-P (77.2 +/- 6.7 years old) and 28 HC (74.5 +/- 5.7 years old) were evaluated on their single-task walking (Vsimple) and on 4 DT walking (walking and counting or counting backwards, naming animals, naming words beginning with the letter P) (Vcount, VcountB, Vanimals and Vletter respectively). The contribution of CR on the different DT walking speeds was compared between HC and iNPH-P. In iNPH-P, the contribution of CR on the walking speeds was compared with regard to other cognitive, functional, and socio-demographic variables. Results: Simple linear regression demonstrated a moderate influence of CR on single and DT walking speed in iNPH-P (β > 0.3, p <.001) but not in HC where the relation was not significant. In iNPH-P, results showed that CR played a major role in explaining each of the single and DT walking speeds with NPH-scale. Conclusion: As CR could be improved through the life cycle, these results support the idea of developing and supporting physical activity programs that will enrich social, physical, and cognitive resources to protect against age-related functional decline, especially in iNPH-P patients where the age-related deficits are greater. [ABSTRACT FROM AUTHOR]
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- 2024
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126. Increased plasma AACT level as an indicator of poor prognosis in patients hospitalised with community-acquired pneumonia: a multicentre prospective cohort study.
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Zhao, Lili, Xi, Wen, Shang, Ying, Gao, Wenjun, Bian, Wenjie, Chen, Xi, Xue, Jianbo, Xu, Yu, Gong, Pihua, Guo, Shuming, and Gao, Zhancheng
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ADULT respiratory distress syndrome , *ENZYME-linked immunosorbent assay , *COMMUNITY-acquired pneumonia , *PNEUMONIA-related mortality , *RECEIVER operating characteristic curves - Abstract
Background and objective: Community-acquired pneumonia (CAP) is a common respiratory disease that frequently requires hospitalisation, and is a significant cause of death worldwide. This study aimed to evaluate the usefulness of alpha-1-antichymotrypsin (AACT) as a diagnostic and prognostic biomarker of CAP. Methods: We conducted a multicentre prospective cohort study in patients hospitalised with CAP. Plasma AACT levels were measured using a quantitative enzyme-linked immunosorbent assay. Receiver-operating characteristic (ROC) curves and Cox proportional hazards regression were used to assess the association between plasma AACT levels and CAP diagnosis and prognosis. Results: A total of 274 patients with CAP were enrolled in the study. AACT levels were elevated in patients with CAP, especially those with severe CAP and non-survivors. The area under the curve (AUC) of AACT and CRP for diagnosing CAP was 0.755 and 0.843. Cox regression showed that CURB-65 and AACT levels were independent predictors of 30-day mortality. ROC curves showed that plasma AACT levels had the highest accuracy for predicting acute respiratory distress syndrome (ARDS), with an AUC of 0.862. Combining AACT with Pneumonia Severity Index and CURB-65 significantly improved their predictive accuracy for predicting 30-day mortality. Conclusion: Plasma AACT levels are elevated in patients with CAP, but plasma AACT level is inferior to the C-reactive protein level for diagnosing CAP. The AACT level can reliably predict the occurrence of ARDS and 30-day mortality in patients with CAP. [ABSTRACT FROM AUTHOR]
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- 2024
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127. Current advances in Hepatitis C diagnostics.
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Baber, Anna S., Suganthan, Baviththira, and Ramasamy, Ramaraja P.
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NUCLEIC acid amplification techniques , *HEPATITIS C virus , *HEPATITIS C , *MEDICAL screening , *MIDDLE-income countries - Abstract
Nearly 60 million people worldwide are infected with Hepatitis C Virus (HCV), a bloodborne pathogen which leads to liver cirrhosis and increases the risk of hepatocellular carcinoma. Those with limited access to healthcare resources, such as injection drug users and people in low- and middle-income countries, carry the highest burden. The current diagnostic algorithm for HCV is slow and costly, leading to a significant barrier in diagnosis and treatment for those most at risk from HCV. There remains no available vaccine for HCV, and infection is often asymptomatic until significant cirrhosis has occurred, which makes screening incredibly important to prevent liver damage and transmission. Recent investigation has sought to address these issues through improvements in various aspects of the diagnostic procedure, using methods such as isothermal amplification techniques for viral RNA amplification, the use of viral protein as an analyte, and the incorporation of streamlined, self-contained testing systems to reduce administrative skill requirements. This review provides a comprehensive overview of current commercial standards and novel improvements in HCV diagnostics, as well as a framework for future integration of these improvements to develop a one-step diagnostic that meets the needs of those most affected. [ABSTRACT FROM AUTHOR]
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- 2024
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128. Downregulation of LPAR1 Promotes Invasive Behavior in Papillary Thyroid Carcinoma Cells.
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Bokaii Hosseini, Zahra, Rajabi, Fatemeh, Morovatshoar, Reza, Ashrafpour, Mahshad, Behboodi, Panteha, Zareie, Dorsa, and Natami, Mohammad
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GENE expression , *MYELOID cells , *PHOSPHOLIPASE D , *LYSOPHOSPHOLIPIDS , *POLYMERASE chain reaction , *CYTOSKELETON - Abstract
Background: Lysophosphatidic acid receptor 1 (LPAR1) has been identified as a biomarker in various cancer types. However, its biological function in papillary thyroid carcinoma (PTC) remains unknown. Methods: LPAR1 was identified as a key regulator of epithelial-mesenchymal transition (EMT) in PTC cells through bioinformatics analysis of TCGA and GEO datasets. PPI analysis and correlation with immune infiltrates were also conducted. LPAR1 expression was evaluated using Gepia2 and GTEx, and miRNA target gene prediction was done with multiMiR. To assess the expression of LPAR1, we extracted total RNA from both the BCPAP cell line and the normal human thyroid epithelial cell line Nthy-ori 3-1. The levels of LPAR1 expression were then measured using quantitative real-time polymerase chain reaction (qRT-PCR) in the BCPAP cell line, with a comparison to the Nthy-ori 3-1 cell line. Results: 1081 genes were upregulated, and 544 were downregulated compared to normal tissue. LPAR1 was identified as a key candidate by analyzing the TCGA and GEO datasets. PPI data analysis showed interactions with metastasis-related proteins. Functional enrichment analysis indicated involvement in signaling pathways like phospholipase D and actin cytoskeleton regulation. LPAR1 expression correlated positively with immune infiltrates such as CD4+ T cells, macrophages, neutrophils, and myeloid dendritic cells but negatively with B cells. Additionally, miR-221-5p was predicted to target LPAR1 in PTC. Furthermore, our experimental data demonstrated that LPAR1 was under-expressed in the PTC cell line compared to the nonmalignant one (P <.01). Conclusion: LPAR1 suppresses metastasis and is linked to EMT, as evidenced by the decreased LPAR1 expression and increased miR-221-5p in PTC. This suggests its potential as a biomarker for diagnosis and prognosis and as a therapeutic target for EMT. [ABSTRACT FROM AUTHOR]
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- 2024
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129. Diagnostic value of microRNA-200 expression in peripheral blood-derived extracellular vesicles in early-stage non-small cell lung cancer.
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Liu, Lina, Zhang, Fan, Niu, Dongling, Guo, Xuan, Lei, Ting, and Liu, Hongli
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NON-small-cell lung carcinoma , *PULMONARY nodules , *LUNG diseases , *CARCINOEMBRYONIC antigen , *EXTRACELLULAR vesicles - Abstract
Objective: This study assessed the diagnostic value of microRNA-200 (miR-200) expression in peripheral blood-derived extracellular vesicles (EVs) in early-stage non-small cell lung cancer (NSCLC). Methods: This study retrospectively analyzed 100 healthy volunteers (the control group) receiving physical examinations, 168 early-stage NSCLC patients (the NSCLC group), and 128 patients with benign lung nodules (the benign group). The basic and clinical data of participants were obtained, including age, sex, smoking history, carbohydrate antigen 242 (CA242), carcinoembryonic antigen (CEA), carbohydrate antigen 199 (CA199), forced expiratory volume in 1 s, maximal voluntary ventilation, forced vital capacity, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), and miR-200 expression. The correlation of miR-200 expression in peripheral blood-derived EVs with CA242, CEA, and CA199 was analyzed, and the diagnostic value of peripheral blood-derived EV miR-200 for early-stage NSCLC was assessed. The risk factors of early-stage NSCLC development were also determined. Results: Age, the percentage of patients with smoking history, CA242, CEA, CA199, IL-6, and TNF-α levels, and miR-200 expression in peripheral blood-derived EVs were significantly higher in the NSCLC group than in the benign and control groups. Lung disease patients with high miR-200 expression in peripheral blood-derived EVs comprised a higher percentage of patients with smoking history and mixed lesions and had higher CA242, CEA, CA199, and TNF-α levels than those with low miR-200 expression in peripheral blood-derived EVs. In lung diseases, miR-200 expression in peripheral blood-derived EVs was significantly and positively correlated with CA242, CEA, and CA199. Peripheral blood-derived EV miR-200 combined with CA242, CEA and CA199 had higher diagnostic value (area under the curve = 0.942) than single detection, along with higher specificity, and high expression of peripheral blood-derived EV miR-200 was an independent risk factor for early-stage NSCLC. Conclusion: Peripheral blood-derived EV miR-200 expression in patients with lung diseases is closely correlated with CA242, CEA, and CA199, and high expression of peripheral blood-derived EV miR-200 is an independent risk factor for early-stage NSCLC and is of high clinical diagnostic value for early-stage NSCLC. [ABSTRACT FROM AUTHOR]
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- 2024
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130. The Mayo ATTR‐CM score versus other diagnostic scores and cardiac biomarkers in patients with suspected cardiac amyloidosis.
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Bonfioli, Giovanni Battista, Tomasoni, Daniela, Vergaro, Giuseppe, Castiglione, Vincenzo, Adamo, Marianna, Fabiani, Iacopo, Loghin, Victor, Lombardi, Carlo Mario, Nicolai, Alessio, Metra, Marco, Emdin, Michele, and Aimo, Alberto
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IMMUNOGLOBULIN light chains , *CARDIAC amyloidosis , *CARDIAC patients , *TRANSTHYRETIN , *VENTRICULAR ejection fraction - Abstract
Aims Methods and results Conclusion Several scores were developed to help the diagnosis of cardiac amyloidosis (CA). The most recent one, being the Mayo transthyretin amyloidosis cardiomyopathy (ATTR‐CM) score, was not externally validated. We compared the diagnostic performance of the ATTR‐CM score with previous tools (increased wall thickness [IWT] score, AMYLoidosis Index [AMYLI] score, and cardiac biomarkers) in a cohort of patients evaluated for a suspicion of CA.We analysed 362 consecutive patients referred to a third‐level centre for suspected CA. Overall, 132 (36%) had transthyretin CA (ATTR‐CA), and 91 (25%) immunoglobulin light chain CA (AL‐CA); CA was excluded in 139 (38%). ATTR‐CM score had a good diagnostic performance to distinguish ATTR‐CA from AL‐CA or no CA, with an area under the curve (AUC) of 0.795 (95% confidence interval [CI] 0.747–0.842, p < 0.001), and ATTR‐CA from no CA (AUC 0.822, 95% CI 0.774–0.871, p < 0.001). Results were consistent in both patients with preserved (AUC 0.787, 95% CI 0.726–0.848, p < 0.001), and reduced or mildly reduced ejection fraction (AUC 0.790, 95% CI 0.709–0.871, p < 0.001). The ATTR‐CM score showed a better discrimination compared to IWT and AMYLI score to distinguish ATTR‐CA from AL‐CA or no CA (p = 0.002), but not to distinguish ATTR‐CA from no CA (p = 0.270). Diagnostic accuracy was significantly higher for the ATTR‐CM score as compared to the rule‐in cut‐off of high‐sensitivity troponin T.The Mayo ATTR‐CM score has a good performance in identifying patients with ATTR‐CA, with also better discrimination power when compared to other scores and biomarkers. [ABSTRACT FROM AUTHOR]
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- 2024
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131. Optimization of self‐ or parent‐reported psychiatric phenotypes in longitudinal studies.
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Ivankovic, Franjo, Johnson, Sharon, Shen, James, Scharf, Jeremiah M., and Mathews, Carol A.
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NEURAL development , *MENTAL illness , *PSYCHIATRIC diagnosis , *GENETICS , *COGNITIVE development - Abstract
Background Methods Results Conclusions The Adolescent Brain Cognitive Development (ABCD) study is a longitudinal study of US adolescents with a wide breadth of psychiatric, neuroimaging and genetic data that can be leveraged to better understand psychiatric diseases. The reliability and validity of the psychiatric data collected have not yet been examined. This study aims to explore and optimize the reliability/validity of psychiatric diagnostic constructs in the ABCD study.Parent‐and‐child‐reported psychiatric data for 11,876 children (aged 9.5 ± 0.5 at first assessment) were examined over 4 years to derive specific constructs for psychiatric diagnoses using longitudinal information. Rates of psychiatric disorders were calculated and compared to those reported in the epidemiological literature.The rates of self‐reported psychiatric disorders at any single time point (broad diagnostic construct) were higher than indicated by epidemiological studies. Narrow diagnostic constructs, which required the endorsement of psychiatric disorders at a majority of longitudinal assessments, demonstrated a better rate approximation of literature‐reported prevalences for most disorders (e.g. the prevalence of broad obsessive‐compulsive disorder (OCD) was 13.3% compared to narrow OCD at 2.6% and a literature‐reported prevalence of 2.3%). Analysis of comorbidity, using OCD as a representative example, also showed a better approximation of literature‐reported comorbidity rates using the narrow construct, with some exceptions.Self‐ or parent‐report‐based assessments tend to overestimate prevalences of psychiatric disorders in the ABCD Study, particularly when longitudinal data are summed to create lifetime prevalences. Such assessments should be accompanied by more in‐depth assessments or clinician‐administered structured interviews if using data where accurate disorder classifications are paramount. [ABSTRACT FROM AUTHOR]
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- 2024
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132. Ectopic thyroid adenoma diagnosed in a Senegal seabream (Diplodus bellottii, Steindachner 1882): Towards an accurate diagnosis.
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Silva, Gabriela Fernandes, Faria, Fátima, Gil, Fátima, Leitão, Nuno, Ribeiro, Paulo, Pinello, Katia, Niza‐Ribeiro, João, and Amorim, Irina
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THYROID cancer , *THYROID diseases , *EPITHELIAL cells , *HISTOGENESIS , *VIMENTIN - Abstract
Thyroid tissue in teleosts is located mainly in the pharyngeal region, usually reaching other adjacent anatomical locations. Herein, a nodular lesion located in the left operculum of a Senegal seabream (Diplodus bellottii) was surgically excised and sent for microscopical evaluation. Microscopically, the lesion presented irregular borders and consisted in columnar epithelial cells arranged in a tubulopapillary pattern, surrounding a central lumen filled with acellular, acidophilic and homogeneous, material (‘colloid’). To determine the lesion's histogenesis, immunohistochemistry was performed employing antibodies for AE1/AE3, CK7, thyroglobulin and vimentin. The neoplastic cells presented low mitotic index and positive immunolabelling for CK7 and thyroglobulin. Therefore, a diagnosis of ectopic thyroid adenoma was made. Herein, the successful employment of antibodies classically used in mammals for accurate diagnosis of thyroid disorders is described. Proliferation of thyroid tissue in fish may reflect environmental and physiological imbalances, making the study and correct diagnosis of these tumours in this species important. [ABSTRACT FROM AUTHOR]
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- 2024
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133. Primary Breast Lymphoma: A Case Report of a Common Tumor in an Uncommon Location.
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Mremi, Alex, Chipongo, Hilary, Urassa, Ellyagape, Mkwizu, Elifuraha, and Lodhia, Jay
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BREAST cancer prognosis , *THERAPEUTIC use of antineoplastic agents , *BREAST tumor diagnosis , *BREAST tumor treatment , *BREAST exams , *BIOPSY , *RADIOTHERAPY , *LACTATE dehydrogenase , *CYTOCHEMISTRY , *RITUXIMAB , *IMMUNOHISTOCHEMISTRY , *CANCER chemotherapy , *TUMOR antigens , *B cell lymphoma , *BREAST , *LYMPHATIC diseases - Abstract
Primary breast lymphoma (PBL) is a rare malignant lymphoid neoplasm limited to the breast, accounting for about 0.15% of all malignant breast tumors and 1.7% to 2.2% of extra-nodal lymphomas. PBL must be distinguished from conventional breast carcinomas due to different therapeutic approaches. A 25-year-old female presented with a left breast mass. Histopathology and immunohistochemical tests confirmed the diagnosis of diffuse large B-cell lymphoma (DLBCL). She had no similar lesions elsewhere in the body. She received 1 cycle of R-CHOP chemotherapy but absconded from the treatment and succumbed afterward while at home. Recent developments in DLBCL treatment have greatly improved patient outcomes by incorporating targeted medicines like rituximab, increased chemotherapy regimens, new drugs, and individualized treatment techniques. PBL appears to have a worse prognosis; thus, delay or abscondment from treatment is of serious concern when it comes to improving the prognosis of patients with PBL. [ABSTRACT FROM AUTHOR]
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- 2024
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134. Calcifying Odontogenic Cyst Associated with Complex Odontoma: Report of a Rare Case.
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Attouchi, Ikram, Oualha, Lamia, Belkacem Chebil, Raouaa, and Ben Youssef, Souha
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ONCOLOGIC surgery , *CANCER diagnosis , *ODONTOGENIC tumors , *RARE diseases , *COMPUTED tomography , *CALCINOSIS , *SYMPTOMS , *PANORAMIC radiography , *HISTOLOGICAL techniques , *ODONTOGENIC cysts , *MANDIBLE ,MANDIBLE surgery - Abstract
Calcifying odontogenic cyst, also known as Gorlin cyst is a rare benign cystic lesion primarily found in the jawbones, accounting less than 1% of odontogenic cysts. It can be associated with odontogenic tumors such as odontomas. We report a rare case of COC associated with complex odontoma in a young patient and discuss its clinical features, diagnosis, and treatment options. An 18-year-old female patient presented with a painless radiopaque lesion of the right mandibular bone at Oral Medicine and Oral Surgery department. Radiographs revealed irregular tooth-like structures in the canine-premolar area. The lesion was surgically removed, and histopathology confirmed COC with a complex odontoma. As of the World Health Organization's 2022 definition, COC is a developmental odontogenic cyst characterized by calcified ghost cells. It typically affects individuals during their second and third decades of life, with no gender preference, almost equally in the maxilla and the mandible. The main treatment is total enucleation, with a generally favorable prognosis. Histopathology is essential for diagnosis due to its mimicry of other jaw conditions. Long-term follow-up is needed to prevent recurrences. [ABSTRACT FROM AUTHOR]
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- 2024
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135. Abnormal expression of circ_0013958 in patients with acute myocardial infarction (AMI) and its influence on prognosis.
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Sun, Fei, Zou, Shenglan, Li, Xiaomin, and Liu, Xueya
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RECEIVER operating characteristic curves , *MYOCARDIAL infarction , *PEARSON correlation (Statistics) , *REGRESSION analysis , *LOGISTIC regression analysis - Abstract
Objective: The purpose of this study was to investigate the diagnostic value of circ_0013958 in acute myocardial infarction (AMI) patients and its influence on the prognosis of AMI patients. Methods: The GSE160717 dataset was downloaded from the NCBI database and differentially expressed genes were analyzed between the control group and the AMI group. The up-regulated genes included circ_0013958. The expression of circ_0013958 in both groups was further verified by RT-qPCR. The Receiver Operating Characteristic curve was used to evaluate the diagnostic value of circ_0013958 in AMI. Pearson correlation analysis was used to examine the correlation between circ_0013958 levles and biochemical indicators. Binary logistic regression was used to analyze the risk factors affecting the occurrence of AMI. Prognostic analysis was performed using COX regression analysis and the Kaplan-Meier Curve. Results: Compared to the control group, the level of circ_0013958 in AMI patients increased. Circ_0013958 can effectively distinguish AMI patients from non-AMI patients. Circ_0013958 levels were positively correlated with cTnI, LDH, CRP and TC levels. The elevated level of circ_0013958 was an independent risk factor for the occurrence of AMI. Higher circ_0013958 levels were also associated with the occurrence of major adverse cardiac events (MACEs) in AMI patients. Additionally, elevated circ_0013958 levels reduced the survival probability of AMI patients. Conclusion: Circ_0013958 levels were up-regulated in AMI patients. It can be used as a diagnosis biomarker for AMI. The level of circ_0013958 was correlated with the disease severity and was an independent risk factor for the occurrence of AMI. Elevated circ_0013958 levels were associated with poor prognosis in AMI patients. [ABSTRACT FROM AUTHOR]
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- 2024
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136. Risk factors for failure of enema reduction of intussusception in children.
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Alsinan, Tuqa, Altokhais, Tariq, Alshayeb, Fatimah, Hajja, Amro, Al Boukai, Mohammad, Alsalameh, Sulaiman, Aldahleh, Renad, Shabi, Shamah, Almubayadh, Shams, de Jesus Rodriguez Runao, Dollis, Alansari, Amani N., and AlAli, Khalid K.
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ENEMA , *SURGICAL emergencies , *DIAGNOSIS , *MEDICAL personnel - Abstract
Intussusception is a common surgical emergency in children. Clinical suspicion and radiological evaluation confirm the diagnosis of the disease. Enema reduction is the first line of management. This study aimed to explore the risk factors associated with enema reduction failure. A retrospective analysis of patients diagnosed with intussusception at three different hospitals in different countries from January 2016 to December 2022. Data collected included demographics, presenting symptoms, duration of symptoms, management, outcomes, and follow-ups. A total of 290 cases of intussusception were included in the study. Ages ranged from 1 to 36 months, with a median age of 15 months. All children underwent an enema reduction which was successful in 92.4%. Failure of reduction was seen in 16.7% of females compared to 6.4% of males, and it was significantly seen in children below the age of 1 year compared to older children. Failure of reduction significantly increases with the duration of symptoms and in children who present with bilious vomiting and currant jelly stool. In conclusion, Failure of enema reduction was more prevalent in females, in children below the age of 1 year and who present late, as well as children who had bilious vomiting and currant jelly stool. This study identified several risk factors associated with failed enema reduction in children with intussusception. Recognizing the risk factors can help guide clinicians in the management and anticipation of outcomes. [ABSTRACT FROM AUTHOR]
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- 2024
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137. Female sex as a negative predictor of outcomes of ankle arthrodesis: a retrospective comparative monocentric study.
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Fischer, Sebastian, Neun, Oliver, Rüsseler, Miriam, Herrmann, Eva, Schippers, Philipp, Münzberg, Matthias, and Hoffmann, Reinhard
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ARTHRODESIS , *WOMEN , *TRAFFIC accidents , *SEX distribution , *QUESTIONNAIRES , *TREATMENT effectiveness , *RETROSPECTIVE studies , *DIAGNOSIS , *GAIT in humans , *DESCRIPTIVE statistics , *ANKLE osteoarthritis , *ANKLE injuries , *SURGICAL complications , *PAIN management , *ANKLE joint , *COMPARATIVE studies , *ANKLE fractures , *SPRAINS , *ACCIDENTAL falls , *DISEASE risk factors , *DISEASE complications - Abstract
Background: End-stage post-traumatic osteoarthritis of the ankle joint may require arthrodesis if conservative treatment fails and a decision against total ankle replacement is made. We aimed to compare the sex-specific differences in outcomes and objectify them using validated specific scores. Methods: Between 2010 and 2021, 221 patients underwent ankle arthrodesis at our institution, including 143 men (MAA) and 78 women (FAA). In addition to demographic data, the aetiology of osteoarthritis, the Foot Function Index (FFI-D), the Olerud-Molander Score (OMAS), and the Short Form-12 questionnaire (SF-12) were collected in this monocentric study. The mean follow-up time was 5.8 years. End-stage osteoarthritis was mostly due to ankle fractures as a result of sprains, falls, and road traffic accidents. Results: Post-operatively, the mean FFI-D for pain was 17.3 (MAA: 14.7; FAA 22.2) and 43.9 for function (MAA: 41.1; FAA 49.5); the mean OMAS was 58.2; and the mean SF-12 physical component score was 42.5. Women achieved significantly worse results in all scores; only the mental component summary of the SF-12 did not differ between the sexes (p > 0.05). Approximately 34% of women stated that the result in terms of gait pattern was worse than expected (MAA 16.1%; p < 0.05). Again, significantly more men stated that the result was better than expected (MAA: 48.3%; FAA: 31.5%, p < 0.05). Conclusions: The fact that the clinical results were significantly worse in women after ankle arthrodesis should be considered when determining the indication. However, the expectations of men and women also need to be individually adjusted. [ABSTRACT FROM AUTHOR]
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- 2024
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138. Data privacy-aware machine learning approach in pancreatic cancer diagnosis.
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AKMEŞE, Ömer Faruk
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CANCER diagnosis , *FEATURE selection , *ARTIFICIAL intelligence , *PANCREATIC cancer , *PANCREATIC duct - Abstract
Problem: Pancreatic ductal adenocarcinoma (PDAC) is considered a highly lethal cancer due to its advanced stage diagnosis. The five-year survival rate after diagnosis is less than 10%. However, if diagnosed early, the five-year survival rate can reach up to 70%. Early diagnosis of PDAC can aid treatment and improve survival rates by taking necessary precautions. The challenge is to develop a reliable, data privacy-aware machine learning approach that can accurately diagnose pancreatic cancer with biomarkers. Aim: The study aims to diagnose a patient's pancreatic cancer while ensuring the confidentiality of patient records. In addition, the study aims to guide researchers and clinicians in developing innovative methods for diagnosing pancreatic cancer. Methods: Machine learning, a branch of artificial intelligence, can identify patterns by analyzing large datasets. The study pre-processed a dataset containing urine biomarkers with operations such as filling in missing values, cleaning outliers, and feature selection. The data was encrypted using the Fernet encryption algorithm to ensure confidentiality. Ten separate machine learning models were applied to predict individuals with PDAC. Performance metrics such as F1 score, recall, precision, and accuracy were used in the modeling process. Results: Among the 590 clinical records analyzed, 199 (33.7%) belonged to patients with pancreatic cancer, 208 (35.3%) to patients with non-cancerous pancreatic disorders (such as benign hepatobiliary disease), and 183 (31%) to healthy individuals. The LGBM algorithm showed the highest efficiency by achieving an accuracy of 98.8%. The accuracy of the other algorithms ranged from 98 to 86%. In order to understand which features are more critical and which data the model is based on, the analysis found that the features "plasma_CA19_9", REG1A, TFF1, and LYVE1 have high importance levels. The LIME analysis also analyzed which features of the model are important in the decision-making process. Conclusions: This research outlines a data privacy-aware machine learning tool for predicting PDAC. The results show that a promising approach can be presented for clinical application. Future research should expand the dataset and focus on validation by applying it to various populations. [ABSTRACT FROM AUTHOR]
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- 2024
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139. IVIM parameters mapping with artificial neural network based on mean deviation prior.
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Hu, Guodong, Ye, Chen, Zhong, Ming, Lei, Chao, Qin, Junpeng, and Wang, Lihui
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ARTIFICIAL neural networks , *GAUSSIAN distribution , *PARAMETER estimation , *PROBLEM solving , *DIAGNOSIS - Abstract
Background Purpose Methods Results Conclusions The diffusion and perfusion parameters derived from intravoxel incoherent motion (IVIM) imaging provide promising biomarkers for noninvasively quantifying and managing various diseases. Nevertheless, due to the distribution gap between simulated and real datasets, the out‐of‐distribution (OOD) problem occurred in supervised learning‐based methods degrades their performance and hinders their real applications.To address the OOD problem in supervised methods and to further improve the accuracy and stability of IVIM parameter estimation, this work proposes a novel learning framework called IterANN, based on mean deviation prior (MDP) between training and estimated IVIM parameters on the test set.Specifically, MDP indicates that the mean of the estimated IVIM parameters always locates between the mean of IVIM parameters in the test and train sets. In IterANN, we adopt a very simple artificial neural network (ANN) architecture of two hidden layers with 12 neurons per hidden layer, an input layer containing the signals acquired at multiple
b ‐values and an output layer composed of three IVIM parameters (D$D$, F$F$ and DStar$DStar$). Inspired by MDP, the distribution of IVIM parameters in the training set (simulated data) is iteratively updated so that their mean gradually approaches the predicted values of the real data. This aims to achieve a strong correlation between the simulated data and the real data. To validate the effectiveness of IterANN, we compare it with several methods on both simulation and real acquisition datasets, including 21 healthy and 3 tumor subjects, in terms of residual errors of IVIM parameters or DW signals, the coefficients of variation (CV) of IVIM parameters, and the parameter contrast‐to‐noise ratio (PCNR) between normal and tumor tissues.On two simulation datasets, the proposed IterANN achieves the lowest residual error in IVIM parameters, especially in the case of low signal‐to‐noise ratio (SNR = 10), the residual error of D$D$, F$F$ and DStar$DStar$ is decreased by 15.82%/14.92%,81.19%/74.04%,50.77%/1.549%$15.82\%/14.92\%, 81.19\%/74.04\%, 50.77\%/1.549\%$ (Gaussian distribution /realistic distribution) respectively comparing to the suboptimal method. On real dataset, the IterANN achieves the highest PCNR when comparing the normal and tumor regions. Additionally, the proposed IterANN demonstrated better stability, with its CV being significantly lower than that of other methods in the vast majority of cases (p<0.01$p<0.01$, paired‐sample Student'st ‐test).The superior performance of IterANN demonstrates that updating the distribution of the train set based on MDP can effectively solve the OOD problem, which allows us not only to improve the accuracy and stability of the estimated IVIM parameters, but also to increase the potential of IVIM in disease diagnosis. [ABSTRACT FROM AUTHOR]- Published
- 2024
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140. Glioneuronal and neuronal tumors: A perspective.
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Komori, Takashi
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NEURONAL differentiation , *DNA methylation , *CHEMORADIOTHERAPY , *TUMORS , *DIAGNOSIS - Abstract
Glioneuronal and neuronal tumors (GNTs) are slow‐growing, lower‐grade neuroepithelial tumors characterized by mature neuronal differentiation and, less consistently, glial differentiation. Their identification has traditionally relied on histological proof of neuronal differentiation, reflecting the well‐differentiated nature of GNTs. However, after discovering genetic alterations in GNTs, particularly those in the MAP‐kinase pathway, it became evident that histological diagnoses do not always correlate with genetic alterations and vice versa. Therefore, molecular‐based classification is now warranted since several inhibitors targeting the MAP‐kinase pathway are available. The World Health Organization classification published in 2021 applied DNA methylation profiling to segregate low‐grade neuroepithelial tumors. As GNTs are essentially indolent, radical resection and unnecessary chemoradiotherapy may be more harmful than beneficial for patients. Preserving tumor tissue for potential future treatments is more important for patients with GNTs. [ABSTRACT FROM AUTHOR]
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- 2024
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141. Development and Validation of the Epidemiological Diagnostic Instrument for Temporomandibular Disorders.
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Borges, Raul Elton Araújo, Mendonça, Luana da Rocha Alves, Roncalli da Costa Oliveira, Angelo Giuseppe, and Santos Calderon, Patrícia
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MEDICAL protocols , *PSYCHOMETRICS , *TEST validity , *DIFFERENTIAL diagnosis , *DIAGNOSIS , *TEMPOROMANDIBULAR disorders - Abstract
ABSTRACT Background Objective Methods Results Conclusion Temporomandibular disorders (TMD) are a highly misreported health problem. Its diagnosis is complex and requires the use of valid and reliable instruments.To develop and validate the Epidemiological Diagnostic Instrument for TMD (EDI/TMD).Content validity (CV), response process (RP), construct validity (EFA), reliability (inter and intraobserver consistency), and convergence validity of the EDI/TMD were assessed and compared to the Diagnostic Criteria for TMD (DC/TMD).An instrument composed of a 9‐question questionnaire and a 12‐step clinical protocol was developed. CV analysis reduced the instrument to a 5‐question and 7‐step clinical protocol (CVI = 0.93). Some instructions were included after the RP. The EFA found three factors: myogenous TMD, arthrogenous TMD, and differential diagnosis. The reliability scores ranged from substantial to excellent. When compared to the DC/TMD, the EDI/TMD total score indicated that this instrument is valid and provides satisfactory diagnostic criteria (Kappa = 0.906; p < 0.001), and can distinguish non‐TMD and TMD individuals, with a cut‐off point of 4.9 (Sensitivity = 1.0; Specificity = 1.0; AUC = 1.0). For individuals who had both myogenous and arthrogenous TMD, the cut‐off point was 14 or higher (Sensitivity = 0.8; Specificity = 1.0; AUC = 0.987). For individuals who had either myogenous TMD (Sensitivity = 1.0; Specificity = 0.88; PPV = 0.89; NPV = 1.0) or arthrogenous TMD (Sensitivity = 0.95; Specificity = 0.87; PPV = 0.83; NPV = 0.96), the cut‐off point was between 5 and 13.9, with the highest EFA score being the determinant factor for final diagnosis.Based on its psychometric properties, the EDI/TMD is a valid and reliable assessment tool that is capable of diagnosing TMD and classifying its subtypes. [ABSTRACT FROM AUTHOR]
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- 2024
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142. Considerations for defining and diagnosing generalized pustular psoriasis.
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Prajapati, Vimal H., Lynde, Charles W., Gooderham, Melinda J., Hong, H. Chih‐ho, Kirchhof, Mark G., Lansang, Perla, Ringuet, Julien, Turchin, Irina, Vender, Ron, Yeung, Jensen, and Papp, Kim A.
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DELAYED diagnosis , *SYMPTOMS , *DIAGNOSIS , *SKIN diseases , *PSORIASIS , *FIBROMYALGIA - Abstract
Generalized pustular psoriasis (GPP) is a rare, chronic skin disease, characterized by widespread pustules and erythema, often accompanied with systemic signs and symptoms. GPP flares occur episodically but may be protracted. Left untreated, GPP can be life‐threatening. Despite being first reported over 100 years ago, definitions and diagnostic criteria for GPP have been inconsistent and varied due, in part, to its rarity and a limited understanding of its pathogenesis. As such, many patients with GPP face delays in diagnosis and subsequent treatment. This manuscript aims to increase the recognition of GPP and provide foundational considerations to aid in the definition and diagnosis of this disease. [ABSTRACT FROM AUTHOR]
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- 2024
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143. Diagnosis of abnormal uterine bleeding based on the FIGO classification: A systematic review and expert opinions.
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Kitahara, Yoshikazu, Hiraike, Osamu, Ishikawa, Hiroshi, Kugu, Koji, Takai, Yasushi, Yoshino, Osamu, Ono, Masanori, Maekawa, Ryo, Ota, Ikuko, and Iwase, Akira
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UTERINE diseases , *RESEARCH questions , *KEYWORD searching , *CLINICAL trials , *FLOW charts , *UTERINE hemorrhage - Abstract
Aim Methods Results Conclusion To present evidence‐ and consensus‐based recommendations for the diagnosis abnormal uterine bleeding.A literature search for the diagnosis of abnormal uterine bleeding was systematically conducted in PubMed from its inception to May 2024 to identify meta‐analyses, reviews, randomized controlled trials, and clinical trials, followed by an additional systematic search using keywords. Based on this evidence, an expert panel developed background, clinical, and future research questions.Based on a systematic search and the collected evidence, we developed five background questions, three clinical questions, and one future research question, with recommendations and/or statements. Evidence and recommendations are provided for clinical questions. Additionally, we developed a flowchart for diagnosis showing the steps of the examinations to be performed.The flowchart and nine recommendations/statements specify an efficient diagnostic procedure to differentiate abnormal causative diseases of uterine bleeding optimized for actual Japanese situations. [ABSTRACT FROM AUTHOR]
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- 2024
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144. Comparison of Fine‐Needle Aspiration and Core Needle Biopsy for the Pre‐Operative Diagnosis of Canine and Feline Mammary Gland Tumours.
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Pakdeesaneha, Thitida, Chankow, Katriya, Techarungchaikul, Sirichai, Thongsima, Thitiporn, Kongtia, Mintraporn, and Tharasanit, Theerawat
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CORE needle biopsy , *MAMMARY glands , *NEEDLE biopsy , *FEMALE dogs , *HISTOPATHOLOGY - Abstract
ABSTRACT Mammary gland tumours are common neoplasms that affect female dogs and cats. We compared the accuracy of pre‐surgical fine‐needle aspiration (FNA) and core needle biopsy (CNB) diagnosing feline (n = 64) and canine (n = 83) mammary gland tumours with excisional histopathology as the gold standard for the definitive diagnosis. We also explored the impact of CNB needle sizes (18G and 16G). FNA, 18G CNB and 16G CNB demonstrated similar accuracy regarding the diagnosis of feline mammary tumours, ranging from 90% to 97.7% (p > 0.05). However, these techniques displayed lower diagnostic accuracy for canine mammary gland tumours: 46.7%–50.9% for FNA, 63.3% for 18G CNB and 73.6% for 16G CNB. In conclusion, FNA and CNB can be used optionally as pre‐surgical diagnostic methods for feline and canine mammary gland tumours. However, factors that affect diagnostic accuracy, such as species and diagnostic techniques, should be considered. [ABSTRACT FROM AUTHOR]
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- 2024
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145. Vaginoscopy to investigate vaginal bleeding and discharge in prepubertal girls.
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Short, Asha, Sit, Andrea, Gerstl, Brigitte, Mallinder, Hayley, and Deans, Rebecca
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UTERINE hemorrhage , *VAGINAL discharge , *FOREIGN bodies , *ETIOLOGY of diseases , *DIAGNOSIS - Abstract
Study Objective Design Setting Participants Main Outcome Measures Results Conclusions To investigate the aetiology of vaginal bleeding and discharge in prepubescent girls, and the utility of vaginoscopy for making a diagnosis.Retrospective observational study over 14 years.Two major tertiary referral paediatric hospitals in Sydney, Australia.All prepubescent girls (n = 104) who presented with vaginal bleeding and/or discharge and subsequently underwent a vaginoscopy. A total of 120 procedures were performed.Surgical findings at vaginoscopy; number needed to investigate (NNI) to establish a diagnosis and to exclude malignancy.There were 52/120 (43.3%) vaginoscopies which provided a positive diagnosis, including 36/86 (41.8%) performed for bleeding and 16/34 (47.0%) for vaginal discharge. In the vaginal bleeding group, the causes found were a foreign body in 11/86 (12.7%), vulvovaginitis in 6/86 (6.9%), benign Mullerian papilloma in 5/86 (5.8%), trauma in 4/86 (4.6%), and malignant tumours in 2/86 (2.3%). To establish a diagnosis in girls presenting with vaginal bleeding, the NNI was 2.4; to detect a malignancy the NNI was 43.0. In girls presenting with vaginal discharge, vulvovaginitis was noted intraoperatively in 7/34 (20.6%) and a foreign body was found in 7/34 (20.6%). No malignant tumours were identified in the vaginal discharge group. To establish a diagnosis in girls presenting with vaginal discharge, the NNI was 2.1.Vaginoscopy is an important diagnostic tool in the setting of vaginal bleeding in prepubescent girls, allowing the ability to confirm a diagnosis, and importantly, to exclude malignancy. [ABSTRACT FROM AUTHOR]
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- 2024
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146. How many is too many? A review of the significant numbers in pediatric skin lesions and their recommended evaluation.
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Mulinda, Carly, Yun, Sonora, Fenner, Justine, Garzon, Maria C., Scollan, Margaret E., and Levin, Laura E.
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PIGMENTATION disorders , *SYMPTOMS , *MACULES , *HEMANGIOMAS , *DIAGNOSIS - Abstract
Pediatric dermatologists are frequently consulted to evaluate children for cutaneous signs of systemic disorders. Numerical thresholds of significance have been described in the dermatologic literature for various skin findings where the likelihood of an associated extracutaneous abnormality or known genetic syndrome increases significantly. Knowledge of these numerical thresholds facilitates diagnosis and management, which improves clinical outcomes and avoids severe complications. This review highlights the clinical presentation, complications, evaluation, and numerical significance, when applicable, for the following skin findings: infantile hemangiomas, capillary malformations, café‐au‐lait macules, hypopigmented macules, juvenile xanthogranulomas, pilomatricomas, and angiofibromas. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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147. Early ileal resection in Crohn's disease is not associated with severe long‐term outcomes: The ERIC study.
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Grellier, N., Kirchgesner, J., Uzzan, M., McLellan, P., Stefanescu, C., Lefevre, J. H., Treton, X., Panis, Y., Sokol, H., Beaugerie, L., and Seksik, P.
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CROHN'S disease , *SURVIVAL rate , *THERAPEUTICS , *INFLAMMATORY bowel diseases , *DIAGNOSIS - Abstract
Summary Background Aim Methods Results Conclusion Early complicated Crohn's disease (CD) may require ileal resection as first‐line treatment.To evaluate the long‐term outcomes of patients who underwent early ileal resection.We conducted a retrospective study in two inflammatory bowel diseases (IBD) referral centres, including patients with ileocaecal resection and segmental ileal resection within 5 years of CD diagnosis. Early resection was defined as within 6 months of diagnosis, intermediate resection between 6 months and 2 years, and late resection between 2 and 5 years. The primary outcome was the cumulative risk of a second ileal surgery. Secondary outcomes included the use of postoperative treatments and morphological recurrence after initial surgery (Rutgeerts score ≥i2, or recurrence on imaging).Among 393 patients who underwent ileal resection within 5 years of diagnosis, 130, 128 and 135, respectively, had early, intermediate and late resection. The cumulative risk of second surgery at 10 years was not significantly different in the early resection group (25.0% [95% CI 17.4–35.2]), than the intermediate (16.8% [95% CI 10.5–26.2]; p = 0.17) or late resection group (22.7% [95% CI 15.1–33.3]; p = 0.83). The early resection group required fewer postoperative treatments than the late resection group with median survivals without treatments of 3.7 and 0.9 years, respectively (p = 0.002). Patients who had early resection had significantly less morphological recurrence than the late resection group (p = 0.02).Early ileal resection in CD is not associated with a higher risk of a second resection. It may be associated with reduced use of medical treatments and fewer morphological recurrences. [ABSTRACT FROM AUTHOR]
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- 2024
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148. Multichannel Lanthanide‐Doped Nanoprobes for Serodiagnosis and Therapy.
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Liu, Yuxin and Wei, Zheng
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SERODIAGNOSIS , *PHOTOTHERAPY , *FLUORESCENCE , *DIAGNOSIS , *CLASSIFICATION - Abstract
In this account, we will highlight recent progress in the development of multichannel lanthanide‐doped (MC−Ln) nanoprobes for highly efficient serodiagnosis and therapy, with a particular focus on our own work. First, we first provide a classification of the types of MC−Ln nanoprobes based on the contained type and number of signals. The merits of different types of nanoprobes and the reason using lanthanides are elucidated. Then, we provide an overview of the current uses of MC−Ln nanoprobes in serodiagnosis and therapy, focusing on the strategic exploration to improve the diagnostic and therapeutic performance from different perspectives. Finally, we present a prospective outlook on the future development and potential issues of next‐generation MC−Ln nanoprobes. We hope that this timely account will update our understanding of MC−Ln and similar nanoprobes for bioapplications and provide helpful references for the state‐of‐the‐art tools for serodiagnosis and therapy. [ABSTRACT FROM AUTHOR]
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- 2024
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149. Comparison of the diagnostic accuracy of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society and American Association of Electrodiagnostic Medicine diagnostic criteria for multifocal motor neuropathy.
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Doneddu, Pietro Emiliano, Gallo, Chiara, Gentile, Luca, Cocito, Dario, Falzone, Yuri, Di Stefano, Vincenzo, Inghilleri, Maurizio, Cosentino, Giuseppe, Matà, Sabrina, Mazzeo, Anna, Filosto, Massimiliano, Peci, Erdita, Sorrenti, Benedetta, Brighina, Filippo, Moret, Federica, Vegezzi, Elisa, Sperti, Martina, Risi, Barbara, and Nobile‐Orazio, Eduardo
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NERVE conduction studies , *AMYOTROPHIC lateral sclerosis , *MOTOR neuron diseases , *PERIPHERAL nervous system , *EUROPEAN integration - Abstract
Background and Purpose Methods Results Conclusions This study was undertaken to compare the sensitivity and specificity of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) diagnostic criteria for multifocal motor neuropathy (MMN) with those of the American Association of Electrodiagnostic Medicine (AAEM).Sensitivity and specificity of the two sets of criteria were retrospectively evaluated in 53 patients with MMN and 280 controls with axonal peripheral neuropathy, inflammatory demyelinating polyneuropathy, or amyotrophic lateral sclerosis. Comparison of the utility of nerve conduction studies with different numbers of nerves examined was also assessed.The 2010 EFNS/PNS criteria had a sensitivity of 47% for definite MMN and 57% for probable/definite MMN, whereas the AAEM criteria had a sensitivity of 28% for definite MMN and 53% for probable/definite MMN. The sensitivity of the AAEM criteria was higher when utilizing area compared to amplitude reduction to define conduction block. Using supportive criteria, the sensitivity of the 2010 EFNS/PNS criteria for probable/definite MMN increased to 64%, and an additional 36% patients fulfilled the criteria (possible MMN). Specificity values for definite and probable/definite MMN were slightly higher with the AAEM criteria (100%) compared to the EFNS/PNS criteria (98.5% and 97%). Extended nerve conduction studies yielded slightly increased diagnostic sensitivity for both sets of criteria without significantly affecting specificity.In our patient populations, the 2010 EFNS/PNS criteria demonstrated higher sensitivity but slightly lower specificity compared to the AAEM criteria. Extended nerve conduction studies are advised to achieve slightly higher sensitivity while maintaining very high specificity. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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150. Plasma level of alpha-synuclein oligomers as a biomarker for isolated rapid eye movement sleep behavior disorder diagnosis and progression: a prospective cohort study.
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Chao Ying, Hui Zhang, Ting Wang, Yuan Li, Wei Mao, Songnian Hu, Lifang Zhao, and Yanning Cai
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RAPID eye movement sleep ,SLEEP ,RECEIVER operating characteristic curves ,MULTIPLE system atrophy ,ENZYME-linked immunosorbent assay - Abstract
Background: Alpha-synuclein oligomers (o-α-syn) are pivotal in the pathogenesis of α-synucleinopathy. Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) serves as an early indicator of the disease, offering insights into disease mechanisms and early intervention. Nevertheless, the diagnostic and predictive potential of o-α-syn in iRBD remains largely unexplored. This study aimed to evaluate the plasma levels of o-α-syn in patients and investigate their utility as biomarkers for diagnosis of and predicting phenoconversion in iRBD. Methods: A total of 143 participants, including 77 polysomnography-confirmed iRBD patients and 66 normal controls (NC), were recruited for this longitudinal observational study. Baseline clinical assessments and plasma collection were conducted for all iRBD patients, with 72 of them undergoing regularly prospective follow-up assessments for parkinsonism or dementia. Plasma levels of o-α-syn were quantified using enzyme-linked immunosorbent assay, and were compared between groups using a general linear model adjusted for age and sex. The diagnostic performance of plasma o-α-syn in iRBD was evaluated by area under the receiver operating characteristic curve (AUC) with 95% CI. Cox regression analysis and Kaplan-Meier survival curves were employed to assess the predictive value of plasma o-α-syn for phenoconversion in iRBD. Results: Plasma o-α-syn levels did not exhibit statistically significant differences among iRBD converter patients, iRBD nonconverter patients, and NC. The AUC for distinguishing NC from iRBD was 0.52 (95% CI: 0.42-0.62, p = 0.682). Spearman correlation analysis revealed a significant positive correlation between plasma o-α-syn levels and MOCA scores in the iRBD group (p < 0.001). Subgroup analyses indicated that iRBD patients with cognitive decline (p = 0.058) and depressive symptoms (p = 0.017) had notably lower o-α-syn levels compared to those without such symptoms. Over a median follow-up period of 5.83 years, 26 iRBD patients developed neurodegenerative synucleinopathies. Cox regression and Kaplan-Meier survival curve analyses indicated that plasma level of o-α-syn lacked a predictive value for disease conversion in iRBD patients. Conclusion: Despite a potential role in the pathophysiology of iRBD, o-α-syn are not appropriate biomarkers for diagnosing or predicting disease progression. While this study offers insights into the pathogenesis of iRBD and neurodegenerative synucleinopathies, further large-scale longitudinal studies are warranted to validate these findings. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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