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Background: The detection of unexpected findings (UF) during CT scans of patients undergoing TAVR is frequent; however, it is unclear whether such findings have a clinical impact on the TAVR pathway. Methods: We conducted a retrospective, single-center observational study enrolling patients who were candidates for TAVR. All enrolled patients underwent a CT scan before valve implantation. The primary outcome of this study was all-cause mortality, while the secondary outcome was to determine whether the diagnosis of clinically relevant UF on CT scans results in a significant delay in the TAVR procedure. Results: A total of 284 patients were enrolled. Clinically relevant UF were identified in 15% of the patients, with the most common types being pulmonary masses or nodules. During the follow-up period, 83 patients (29.2%) died. The prognosis was worsened by chronic kidney disease (HR 1.76, p = 0.03) and left ventricular dilatation (HR 1.74, p = 0.04), while the diagnosis of clinically relevant UF did not impact all-cause mortality (p = 0.38). No statistically significant differences were found in the delay from the diagnosis of severe aortic stenosis to TAVR between patients with and without clinically relevant UF (p = 0.07), although patients with clinically relevant UF experienced a median delay of approximately 37 days in the TAVR procedure. Conclusions: The presence of clinically relevant UF on preoperative CT scans does not affect all-cause mortality but shows a trend toward increasing the time from diagnosis to the procedure in patients with severe aortic stenosis undergoing TAVR. Further studies are required to confirm these findings in larger patient cohorts. [ABSTRACT FROM AUTHOR]

Keratoconus is a progressive corneal disorder that can lead to irreversible visual impairment if not detected early. Despite its high prevalence, early diagnosis is often delayed, especially in low-to-middle-income countries due to limited awareness and restricted access to advanced diagnostic tools such as corneal topography, tomography, optical coherence tomography, and corneal biomechanical assessments. These technologies are essential for identifying early-stage keratoconus, yet their high cost limits accessibility in resource-limited settings. While cost and portability are important for accessibility, the sensitivity and specificity of diagnostic tools must be considered as primary metrics to ensure accurate and effective detection of early keratoconus. This review examines both traditional and advanced diagnostic techniques, including the use of machine learning and artificial intelligence, to enhance early diagnosis. Artificial intelligence-based approaches show significant potential for transforming keratoconus diagnosis by improving the accuracy and sensitivity of early diagnosis, especially when combined with imaging devices. Notable innovations include tools such as SmartKC, a smartphone-based machine-learning application, mobile corneal topography through the null-screen test, and the Smartphone-based Keratograph, providing affordable and portable solutions. Additionally, contrast sensitivity testing demonstrates potential for keratoconus detection, although a precise platform for routine clinical use has yet to be established. The review emphasizes the need for increased awareness among clinicians, particularly in underserved regions, and advocates for the development of accessible, low-cost diagnostic tools. Further research is needed to validate the effectiveness of these emerging technologies in detecting early keratoconus. [ABSTRACT FROM AUTHOR]

Background: Medullary carcinoma of the small intestine is an exceptionally rare subtype of gastrointestinal cancer, characterized by its solid growth pattern and lack of glandular structures, which complicate timely diagnosis. During the COVID-19 pandemic, diagnostic delays for rare cancers became increasingly common due to the prioritization of COVID-related cases and patient reluctance to seek medical attention. Methods and Result: We present the case of a 70-year-old male initially misdiagnosed with COVID-19, whose persistent symptoms led to the eventual discovery of medullary carcinoma. Imaging studies revealed focal lesions in the liver, spleen, and thickened small intestinal walls, prompting surgical resection of a 16 cm intestinal segment. Histopathological examination confirmed medullary carcinoma with lymph node and liver metastases, supported by immunohistochemistry, which showed positive markers (calretinin, pancytokeratin, cytokeratin 7) and excluded other malignancies. Conclusions: The diagnostic delay, exacerbated by the pandemic, highlights the challenges of distinguishing rare cancers from more common conditions during global health crises. This case underscores the importance of advanced diagnostic techniques, such as immunohistochemistry, for accurate identification. Maintaining robust cancer diagnostic pathways during emergencies is crucial to avoid delays in treatment. Future research should focus on improving screening methods for rare cancers and developing resilient healthcare systems to mitigate similar challenges in future crises. [ABSTRACT FROM AUTHOR]

Acute ischemic stroke with large vessel occlusion (LVO) continues to present a considerable challenge to global health, marked by substantial morbidity and mortality rates. Although definitive diagnostic markers exist in the form of neuroimaging, their expense, limited availability, and potential for diagnostic delay can often result in missed opportunities for life-saving interventions. Despite several past attempts, research efforts to date have been fraught with challenges likely due to multiple factors, such as the inclusion of diverse stroke types, variable onset intervals, differing pathobiologies, and a range of infarct sizes, all contributing to inconsistent circulating biomarker levels. In this context, microRNAs (miRNAs) have emerged as a promising biomarker, demonstrating potential as biomarkers across various diseases, including cancer, cardiovascular conditions, and neurological disorders. These circulating miRNAs embody a wide spectrum of pathophysiological processes, encompassing cell death, inflammation, angiogenesis, neuroprotection, brain plasticity, and blood–brain barrier integrity. This pilot study explores the utility of circulating exosome-enriched extracellular vesicle (EV) miRNAs as potential biomarkers for anterior circulation LVO (acLVO) stroke. In our longitudinal prospective cohort study, we collected data from acLVO stroke patients at four critical time intervals post-symptom onset: 0–6 h, 6–12 h, 12–24 h, and 5–7 days. For comparative analysis, healthy individuals were included as control subjects. In this study, extracellular vesicles (EVs) were isolated from the plasma of participants, and the miRNAs within these EVs were profiled utilizing the NanoString nCounter system. Complementing this, a scoping review was conducted to examine the roles of specific miRNAs such as miR-140-5p, miR-210-3p, and miR-7-5p in acute ischemic stroke (AIS). This review involved a targeted PubMed search to assess their influence on crucial pathophysiological pathways in AIS, and their potential applications in diagnosis, treatment, and prognosis. The review also included an assessment of additional miRNAs linked to stroke. Within the first 6 h of symptom onset, three specific miRNAs (miR-7-5p, miR-140-5p, and miR-210-3p) exhibited significant differential expression compared to other time points and healthy controls. These miRNAs have previously been associated with neuroprotection, cellular stress responses, and tissue damage, suggesting their potential as early markers of acute ischemic stroke. This study highlights the potential of circulating miRNAs as blood-based biomarkers for hyperacute acLVO ischemic stroke. However, further validation in a larger, risk-matched cohort is required. Additionally, investigations are needed to assess the prognostic relevance of these miRNAs by linking their expression profiles with radiological and functional outcomes. [ABSTRACT FROM AUTHOR]

Background: Oncological surgery during the COVID-19 pandemic was performed only in carefully selected cases, due to variation in the allocation of resources. The purpose of this study was to highlight the impact of the pandemic lockdown on the presentation, diagnosis, and surgical management of colorectal cancers as well as the post-pandemic changes in this area. Material and methods: This single center, retrospective comparative study contained 1687 patients, divided into three groups with equal time frames of two years, consisting of a pre-pandemic, pandemic, and post-pandemic period, in which preoperative and perioperative as well as postoperative parameters were compared. Results: Statistically significant differences regarding environment, type of admission, and ASA score, as well as a more advanced tumoral stage, increased number of important postoperative complications, and a lower minimally invasive surgical approach, were highlighted within the pandemic group. Statistically significant differences regarding emergency diagnosis as well as late diagnosis were highlighted. There were no significant differences regarding the tumor location, postoperative 30-day mortality, or hospitalization duration. Conclusions: COVID-19 significantly impacted the surgical timing in colorectal cancer, as well as addressability for the rural population, with a marked decrease in elective cases as well as an increased number of cases diagnosed in an emergency setting, with locally advanced tumors. However, no significant changes in postoperative mortality or hospitalization duration were highlighted. In addition, most of the changes highlighted were reverted in the post-pandemic period. Further studies are required to observe the long-term effects in terms of morbidity and mortality, regarding the delay of diagnosis and oncological treatment. [ABSTRACT FROM AUTHOR]

Background/Objectives: The aim is to bring attention to the existence of a rare type of trauma of the hand, high-pressure injection injury, that appears to be minor with negligible signs and symptoms within the first hours after the accident, but in reality, produces significant tissue destruction with severe consequences. Recognizing this type of trauma by medical personnel, understanding the mechanisms involved, and knowing the etiological and prognostic factors can lead to early treatment initiation and avoid severe mutilating sequelae. Methods: A retrospective study on 16 patients diagnosed with high-pressure injection injuries, including water, air, paint, paint mixed paint with thinner, petroleum jelly, and lime (washable paint containing calcium oxide). The patients' epidemiological data, the time from accident to diagnosis, reasons for delayed diagnosis, treatments applied, and outcomes were recorded and evaluated. Results: All injuries occurred at the workplace due to negligence. Oil-based paint was implicated in 31.25% of cases. The most frequently affected anatomical region was the volar surface of the distal phalanx of the nondominant hand index finger. In one case, delayed presentation to medical care and diagnosis resulted in a compartment syndrome, requiring amputation. Conclusions: It is crucial to recognize and understand this type of trauma, as it constitutes an emergency due to its rapid progression. Delayed diagnosis can result in massive tissue destruction, potentially leading to the loss of limb segments and debilitating functional sequelae, which may severely impact a patient's socio-professional life. [ABSTRACT FROM AUTHOR]

This review aims to focus on what we know about the management of biliary strictures of unknown etiology, especially exploring our diagnostic armamentarium in the setting of indeterminate biliary strictures. Presently, this is a current issue that has a relevant impact both on patient prognosis, often delaying diagnosis, and on overall costs associated with repeating diagnostic procedures, sometimes performed with very expensive devices. We also focus on current biliary drainage approaches, providing an overview of therapeutic options, endoscopic or not. [ABSTRACT FROM AUTHOR]

Simple Summary: Gastric ulcer disease and other potentially painful conditions of the stomach are a common health concern of domestic horses, donkeys, and mules. Outward signs of gastric disease are often not readily apparent, delaying diagnosis and treatment. Based on clinical experience evaluating the behavior of horses during 24-h video recorded samples, we have recognized what appears to be an observable behavioral signature of equine gastric discomfort. Specific behaviors include frequent nuzzling, swatting, nipping, and/or gazing focused on the abdomen just behind the elbow and less commonly deep abdominal (downward dog-like) stretches, often within the context of eating, drinking, and/or anticipating feeding. To evaluate how reliably these behaviors indicate gastric disease, we reviewed clinical case records of 30 recent 24-h video behavior evaluation cases for which the stomach had also been examined. For 24 of the 30 cases, gastric discomfort behaviors had been reported, and all 24 did have either gastric ulcer disease and/or gastric impaction. Of the six cases not showing gastric discomfort behavior, four were free of gastric disease and two had mild gastric lesions. Comparing horses with and without gastric disease, gastric discomfort behaviors were reported in 24 of the 26 horses with gastric ulcers or gastric impaction, compared to none of the four disease-free horses. These findings support our long-held clinical impression that when these behaviors are seen, whether in casual observation or video evaluation, follow-up gastroscopy should be considered to definitively diagnose the horses so that appropriate treatment can be prescribed. Gastric ulcer disease and other potentially painful gastric conditions are among the most common afflictions adversely affecting the welfare of domestic equids. A large percentage of affected animals may not display the classic signs of gastric disease, such as unexplained weight loss, poor hair coat, and inappetence until the disease becomes severe. As a clinical service within our equine referral hospital, we routinely evaluate 24-h video recorded samples of horses to assist clinicians in identifying subtle discomfort and potential sources or to scan for infrequent neurologic or cardiac-related behavioral events. Empirically, we have recognized discomfort behaviors that appear to be uniquely associated with gastric disease. These include frequent attention to the cranial abdomen (nuzzling, swatting, nipping, and/or caudal gaze focused on the abdomen caudal to the elbow) and/or deep abdominal stretching, often within the context of eating, drinking, and/or anticipating feeding. To systematically evaluate the reliability of these purported gastric discomfort behaviors, we reviewed 30 recent 24-h video behavior evaluation cases for which (1) the clinical video behavior evaluation had been carried out without knowledge of the history and presenting complaint and (2) direct gastric examination had confirmed gastric disease status at the time. Twenty-four of the thirty cases showed gastric discomfort behavior, and all twenty-four had either gastric ulcers (n = 21) and/or gastric impaction (n = 3). Of the six cases not showing gastric discomfort behaviors, four were free of gastric disease, while two had mild lesions. Comparing horses with and without gastric disease, gastric discomfort behaviors were reported in 24 of the 26 (92%) with gastric ulcers or gastric impaction, compared to none of the four gastric disease-free horses. Although a larger prospectively designed study is needed to confidently estimate the sensitivity and specificity or the associations of behavior with the type or severity of gastric disease, these results confirm our long-held clinical impression of a behavioral signature for gastric discomfort in the horse. [ABSTRACT FROM AUTHOR]

Simple Summary: Delays in diagnosis and treatment of equine colic can lead to poor outcomes. The analysis of fluid from the abdominal (or "peritoneal") cavity is a valuable means for assessing peritoneal and intestinal health. Specific peritoneal fluid biomarkers can be evaluated to rapidly identify gastrointestinal lesions that require surgery. However, some colic cases are not straightforward, and thus additional biomarkers are needed. Neutrophils are white blood cells that respond quickly to infection and tissue damage and can increase in peritoneal fluid during colic. In this study, we retrospectively evaluated neutrophil counts in equine peritoneal fluid of colic horses to understand if they can help us to predict the strangulated nature of a gastrointestinal lesion and potential outcomes. Horses with strangulating gastrointestinal lesions, which occur when blood supply has been lost to the tissues and requires surgery, had higher peritoneal fluid neutrophils than horses that did not have strangulating lesions. Additionally, horses that developed complications and those that did not survive to discharge also had higher peritoneal fluid neutrophil counts. In conclusion, peritoneal fluid neutrophil counts may help to predict gastrointestinal lesion types and outcomes, and the role of neutrophils in these gastrointestinal lesions and complications warrants further study to understand if they might be a target for therapies. Neutrophil characteristics in peritoneal fluid (PF) may aid in diagnosing and treating specific colic lesions and complications. The objective of this retrospective study was to evaluate quantitative PF leukocyte values, as well as PF total protein (TP) and lactate, for associations with diagnosis, morbidity, and mortality in horses with acute colic. Three hundred and forty-two horses that presented to one institution between January 2010–2020 for the evaluation of acute colic were included. The PF total nucleated cell count (TNCC), % and total neutrophil counts, total protein (TP), and lactate were analyzed for associations with lesion location and type, the development of postoperative reflux (POR) or systemic inflammatory response syndrome (SIRS), and survival to discharge via Kruskal–Wallis testing. Horses with strangulating lesions had higher PF % neutrophils, neutrophil count, and TNCC compared to non-strangulating lesions. The development of SIRS or POR was associated with higher PF TNCC, total neutrophil count, TP, and lactate. Horses that did not survive to discharge had increased PF % neutrophils, neutrophil count, TP, lactate, and ratio of PF-to-systemic TP than those that survived via univariable analysis. Identified associations between increased PF neutrophils and the development of POR and SIRS warrant further investigation to better understand their role in the pathogenesis of equine colic and potential as targets for therapeutic intervention. [ABSTRACT FROM AUTHOR]

(1) Background: Suspicious adnexal masses should be referred to gynecological oncology units. However, when surgery waiting lists are prolonged, these patients usually suffer from a delay in surgery. This could have a negative impact on their prognosis when the final diagnosis is ovarian cancer (OC). The primary aim of this study was to investigate the impact of surgery delay on the oncological results of early-stage ovarian cancer patients. (2) Methods: We retrospectively reviewed the records of early-stage OC patients who underwent surgery in the 1st Department of Obstetrics and Gynecology from 2012 to 2019. Time to surgery was defined as the time interval from the day of first examination to the day of surgery. (3) Results: A total of 72 patients were categorized into two groups, with a cut-off point of 5 weeks: 32 were treated ≤ 5 weeks (group A), and 40 > 5 weeks (group B). Concerning age, BMI or comorbidities, no differences were found between the two groups. Furthermore, no differences were presented in the post-operative complications rate, hospital stay, ICU admittance, or in disease-free (p = 0.48) and overall survival rates (p = 0.703). (4) Conclusions: Suspicious adnexal masses should undergo careful differential diagnosis to avoid delays in the "wait and see" period when the final diagnosis is positive for malignancy. However, the time to surgery for early-stage OC over 5 weeks seems to be relatively safe, with no impact on the mortality, morbidity, or recurrence rate. [ABSTRACT FROM AUTHOR]

Acute vertigo or dizziness is a frequent presentation to the emergency department (ED), making up between 2.1% and 4.4% of all consultations. Given the nature of the ED where the priority is triage, diagnostic delays and misdiagnoses are common, with as many as a third of vertebrobasilar strokes presenting with acute vertigo or dizziness being missed. Here, we review diagnostic errors identified in the evaluation and treatment of the acutely dizzy patient and discuss strategies to overcome them. Lessons learned include focusing on structured history taking, asking about timing and triggers to inform a targeted examination, assessing subtle ocular motor findings (e.g., by use of HINTS(+)), and avoiding overreliance on brain imaging (including early magnetic resonance imaging including diffusion-weighted sequences [DWI-MRI]). Importantly, up to 20% of DWI-MRI may be false negatives if obtained within the first 24–48 h after symptom onset. Likewise, overreliance on focal neurologic findings to confirm a stroke diagnosis should be avoided because isolated dizziness, vertigo, or even unsteadiness may be the only symptoms in some patients with vertebrobasilar stroke. Furthermore, in patients with triggered episodic vestibular symptoms provocation maneuvers should be preferred over HINTS(+), and a potential diagnosis of stroke should not be immediately dismissed in younger patients presenting with a headache (where migraine may be more common), but the possibility of a vertebral artery dissection should be further evaluated. Importantly, moderate training of non-experts allows for significant improvement in diagnostic accuracy in the acutely dizzy patient and thus should be prioritized. [ABSTRACT FROM AUTHOR]

Scrub typhus, caused by Orientia tsutsugamushi, is a neglected and reemerging disease that causes considerable morbidity and mortality. It now extends beyond the Tsutsugamushi Triangle, the region wherein it has traditionally been endemic. Influenza has also resurged since the infection control measures against COVID-19 were relaxed. A few cases of scrub typhus and influenza co-infection have been reported. Herein, we report the case of a 74-year-old woman with fever and upper respiratory symptoms diagnosed with influenza A and treated with oseltamivir; however, her fever persisted, and she developed respiratory failure, liver dysfunction, headache, diarrhea, and an erythematous skin rash. She lived in a forested area where scrub typhus was endemic and worked on a farm. Physical examination revealed an eschar on her posterior neck, and she was diagnosed with scrub typhus and influenza A co-infection. After minocycline treatment, her symptoms improved within a few days. This is the first reported case of scrub typhus and influenza A co-infection in Japan. This case illustrates that co-infection should be suspected in patients with fever persisting after their initial infection has been treated and that in patients living in endemic areas, scrub typhus can occur concurrently with influenza. The symptoms of scrub typhus are flu-like and nonspecific, which may delay diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Each year, the number of cases of strokes and deaths due to this is increasing around the world. This could be due to work stress, lifestyles, unhealthy food habits, and several other reasons. Currently, there are several traditional methods like thrombolysis and mechanical thrombectomy for managing strokes. The current approach has several limitations, like delayed diagnosis, limited therapeutic delivery, and risks of secondary injuries. So, there is a need for some effective and reliable methods for the management of strokes, which could help in early diagnosis followed by the treatment of strokes. Nanotechnology has played an immense role in managing strokes, and recently, it has emerged as a transformative solution offering innovative diagnostic tools and therapeutic strategies. Nanoparticles (NPs) belonging to several classes, including metallic (metallic and metal oxide), organic (lipids, liposome), and carbon, can cross the blood–brain barrier and may exhibit immense potential for managing various strokes. Moreover, these NPs have exhibited promise in improving imaging specificity and therapeutic delivery by precise drug delivery and real-time monitoring of treatment efficacy. Nanomaterials like cerium oxide (CeO2) and liposome-encapsulated agents have neuroprotective properties that reduce oxidative stress and promote neuroregeneration. In the present article, the authors have emphasized the significant advancements in the nanomedicine management of stroke, including NPs-based drug delivery systems, neuroprotective and neuroregenerative therapies, and multimodal imaging advancements. [ABSTRACT FROM AUTHOR]

Background and Objectives: During the COVID-19 pandemic, many countries implemented lockdowns and social distancing measures, which may delay the early diagnosis of colorectal cancer (CRC). This study aims to review the impact of the pandemic on the diagnosis and treatment outcomes of CRC. Materials and Methods: Patients who underwent colonoscopy or surgery for CRC were included. The study was divided into the pre-COVID-19 (January 2019–January 2020), early COVID-19 (February–May 2020), recovery (June–December 2020), and heightened alert (January–December 2021) periods. Cox regression was used to model the waiting time to colonoscopy. Multivariable logistic regression identified associations between time periods and incidence of CRC diagnosed. The characteristics and outcomes of the surgical procedures that were performed were compared across the time periods. Results: A total of 18,662 colonoscopies and 1462 surgical procedures were performed in the study period. Compared to the pre-COVID-19 period, there was a longer time to colonoscopy during the recovery (HR: 0.91; 95% CI: 0.87, 0.94) and heightened alert periods (HR: 0.88; 95% CI 0.85, 0.91). The early COVID-19 (OR: 1.36; 95% CI: 1.04, 1.77) and recovery (OR: 1.20; 95% CI: 1.01, 1.43) periods were associated with higher odds of diagnosing CRC. Compared to the pre-COVID-19 period, there was a higher proportion of ASA 4 patients (4.3% vs. 1.3%; p < 0.001) and stage 4 CRC patients (22.2% vs. 16.9%; p = 0.001) that required surgery during the heightened alert period. Similarly, there was a higher proportion of emergency surgeries (22% vs. 13.3%; p = 0.002); diverting stomas (13.5% vs. 10.5%; p = 0.005), and Hartmann's procedures (4.4% vs. 0.4%; p = 0.001) performed during the heightened alert period. Conclusions: The pandemic was associated with a higher proportion of metastatic CRC patients requiring surgery. Healthcare policies should facilitate early cancer screening, diagnosis, and treatment to reduce cancer-related morbidity for future pandemics. [ABSTRACT FROM AUTHOR]

Background: Pulmonary hypertension (PH) is a complex condition associated with significant morbidity and mortality. Traditional diagnostic and management approaches for PH often face limitations, leading to delays in diagnosis and potentially suboptimal treatment outcomes. Artificial intelligence (AI), encompassing machine learning (ML) and deep learning (DL) offers a transformative approach to PH care. Materials and Methods: We systematically searched PubMed, Scopus, and Web of Science for original studies on AI applications in PH, using predefined keywords. Out of more than 500 initial articles, 45 relevant studies were selected. Risk of bias was evaluated using PROBAST (Prediction model Risk of Bias Assessment Tool). Results: This review examines the potential applications of AI in PH, focusing on its role in enhancing diagnosis, disease classification, and prognostication. We discuss how AI-powered analysis of medical data can improve the accuracy and efficiency of detecting PH. Furthermore, we explore the potential of AI in risk stratification, leading to treatment optimization for PH. Conclusions: While acknowledging the existing challenges and limitations and the need for continued exploration and refinement of AI-driven tools, this review highlights the significant promise of AI in revolutionizing PH management to improve patient outcomes. [ABSTRACT FROM AUTHOR]

Subclavian artery pseudoaneurysms are rare but potentially life-threatening vascular injuries frequently associated with trauma such as clavicle fractures. In this paper we describe the case of a 49-year-old male who developed a post-traumatic pseudoaneurysm of the subclavian artery after a bicycle accident. The diagnosis was delayed due to non-specific symptoms and an initially missed aneurysm on computed tomography imaging. Persistent pain, swelling, and erythema in the subclavian region prompted further detailed diagnostics, which ultimately revealed the pseudoaneurysm. The patient was successfully treated with endovascular stent–graft implantation. We screened the PubMed database to identify similar cases managed exclusively through endovascular intervention. Reports of iatrogenic pseudoaneurysms and those treated with open surgery were excluded. Variables such as time to diagnosis, clinical presentation, features of pseudoaneurysms, and complications were analyzed to highlight the role of endovascular techniques as a minimally invasive and effective treatment option. These cases pose both a diagnostic and a therapeutic challenge, as early recognition of symptoms is crucial to prevent serious complications including thrombosis, neurological deficits, and even limb loss. [ABSTRACT FROM AUTHOR]

This pilot study evaluated the design, usability, and practicality of the dPDT@home kit for treating actinic keratoses (AKs) on the face and scalp. The kit allowed patients to manage their treatment at home, reducing hospital visits and utilizing natural sunlight. While patients were very willing to use the kit again, further studies are required to evaluate outcomes and ascertain the need for additional improvements and support. Background/Objectives: Daylight photodynamic therapy (dPDT) is an established effective therapy for superficial mild-to-moderate actinic keratoses (AKs) on the face and scalp. In this project, we redesigned the delivery of dPDT using design principles and the concept of Realistic Medicine to create the dPDT@home kit. This user-friendly and environmentally conscious kit allows patients to manage their AKs at home, reducing the need for hospital visits and ensuring timely treatment to coincide with appropriate weather conditions and to prevent disease progression due to delays in diagnosis and treatment. The initial pilot phase of the study was to evaluate the usability and convenience of the practicalities of the dPDT@home kit. Methods: Patients were instructed to conduct two dPDT@home kit treatments approximately three weeks apart on suitable weather days. After a follow-up telephone consultation from the specialist PDT nurse following the first treatment, patients then completed an initial questionnaire (Questionnaire 1, Q1) to share their experience. A second questionnaire (Q2) was completed 3–6 months after their final treatment to assess treatment outcomes. Results: A total of 16 patients with AK on the face and/or scalp used the dPDT@home kit. Five patients formed an initial pilot group in 2020/21, whose feedback and involvement informed the final product for the larger group of eleven patients (2021/22). All patients reported no issues with receiving the kit or the pro-drug used in the treatment (Q1). Q2 had an 81.25% return rate, with an average willingness score of 8.9/10 to use dPDT@home again. However, patients expressed doubts about their confidence in the treatment's efficacy, giving an average score of 6.9/10, with preferences leaning towards other treatments, such as hospital-based PDT or cryotherapy. Conclusions: The pilot deployment of the dPDT@home kit identified suitable patients and highlighted the need for comprehensive training and support for both patients and clinicians to deliver dPDT through this novel approach. The kit can reduce the number of hospital visits, but patients still require supervision, which can be provided remotely. The questionnaire outcomes emphasize the importance of setting patient expectations and taking a holistic approach to managing chronic field-change AK. Additionally, the kit's recyclable components and reliance on natural sunlight promote sustainability and reduce patient travel. Further evaluation is required to determine cost-efficacy, safety, and the potential place of the dPDT@home kit in the therapeutic management of patients with this common and challenging condition. [ABSTRACT FROM AUTHOR]

Background: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant systemic disease, where amyloid fibrils accumulate especially in the peripheral and autonomic nervous systems and in the heart. The aim of the present work was to outline the follow-up and type of management received by asymptomatic carriers (ACs) and Coutinho stage 1 ATTRv patients in Spain. Methods: A cross-sectional, non-interventional study was conducted throughout seven experienced hospitals in Spain. A total of 86 ACs without neurological symptoms and 19 Coutinho stage 1 ATTRv patients diagnosed 12 months before their enrollment were included. Clinical and demographic data, red flags, and neurological and cardiological evaluations were gathered. In addition, site variables were collected from four centers to describe the clinical management of ATTRv. Results: ATTRv clinical management varied depending on the center setting but was primarily overseen by neurology and internal medicine, which were responsible for the holistic follow-up of ACs and patients. Routinely, neurologists, neurophysiologists, cardiologists, and internal medicine conducted the follow-up. Specialties involved in initial AC assessment were neurophysiologists and cardiologists in 100% of cases, neurologists (75%), internists and geneticists (50%), and ophthalmologists (25%). A review of the medical tests performed proved an exhaustive management of the study population. Stable patients were followed up every 6 months, while those under evolution were monitored every 3–6 months. The frequency of monitoring of ACs was annual, and carriers classified with doubtful disease onset were visited every 3–6 months. Conclusions: The EMPATIa study provides valuable insights into the management of ATTRv in a real-world clinical setting in highly experienced hospitals in Spain. It demonstrates that multidisciplinary practice and enhanced disease awareness may lead to a reduction in diagnostic delay. [ABSTRACT FROM AUTHOR]

Background/Objectives: Oral cancer (OC) is a disease with poor prognosis mainly due to late diagnosis. There is considerable interest in the use and development of rapid, point of care (POC) non-invasive methods that can accelerate the diagnostic process. Bioimpedance (BI) is resistance to the passage of electric currents through tissue that reflects structural changes in the tissue. The aim of this study was to determine the spectrum of BI values in patients with oral cancer, to compare them with other oral lesions and healthy controls, and to determine the diagnostic value of the BI-based method for diagnosis of OC. Methods: Ninety-three participants divided into three groups participated in this study. The first group (31 participants) consisted of patients with histologically confirmed OC, the second group (31 participants) consisted of patients with an active reticular form of oral lichen planus (positive controls; OLP) and the third group (31 participants) consisted of healthy controls. In OC and OLP patients, BI was measured at three points (non-ulcerated lesional mucosa, clinically unaffected perilesional mucosa and unaffected mucosa on the contralateral side). In healthy controls, BI was measured on a healthy mucosa in the corresponding anatomical region. Measurements were performed at nine frequencies (1, 2, 5, 7, 10, 20, 70 and 100 kHz). Results: In OC patients, BI values in the lesion were significantly lower than BI values in clinically intact perilesional mucosa and the unaffected contralateral side at all frequencies. Furthermore, BI values of the clinically intact perilesional mucosa were significantly lower than the BI values of the healthy contralateral mucosa at frequencies of 1 kHz, 2 kHz, 5 kHz, 7 kHz and 10 kHz. Patients with OC had significantly lower BI values compared to patients with OLP and individuals with healthy oral mucosa at all frequencies. Conclusions: This study demonstrated the very good to excellent ability of this method to detect OC lesions, which needs to be confirmed by further studies on a larger number of participants. [ABSTRACT FROM AUTHOR]

Sarcoidosis is a multisystem granulomatous inflammatory disorder, of unknown aetiology, which causes a wide spectrum of clinical phenotypes. It can present at any age, most commonly between 20 and 60 years, with a roughly equal sex distribution. Diagnosis is often delayed due to multiple diagnostic mimics, particularly joint disease. Common presenting features include pulmonary disease, with bilateral hilar lymphadenopathy and pulmonary infiltrates, cutaneous lesions, and ocular disease. Musculoskeletal manifestations are reported in 10–40% of patients with sarcoidosis and include bone lesions, acute arthritis, chronic arthritis, axial disease, dactylitis, and sarcoid myopathy, which are explored in detail in this review article. Diagnosis is confirmed through histological evidence of non-caseating granuloma on tissue biopsy. Newer imaging modalities, including 18FFDG PET/CT, can help identify the extent of musculoskeletal involvement, and biomarkers can provide weight to a diagnosis, but there is no single biomarker with prognostic value for disease monitoring. The mainstay of treatment remains corticosteroids, followed by disease-modifying antirheumatic drugs such as methotrexate and antimalarials. More recently, biologic treatments have been used successfully in the treatment of sarcoidosis with rheumatic involvement. [ABSTRACT FROM AUTHOR]

Background: As spontaneous renal artery dissection (SRAD) is a rare cause of abdominal pain, bilateral dissection is an extremely rare event. Only approximately two hundred cases of SRAD have been reported in the literature. The diagnosis is often delayed due to the rarity of the disease and non-specific clinical presentations such as flank pain, hypertension, fever, nausea, vomiting, and hematuria, which can be often misdiagnosed as a genito-urinary infection or gastrointestinal or bowel disease. Before 1980, the diagnosis of SRAD was mostly confirmed via autopsy or, rarely, via angiography. At present, the diagnosis is made using advanced imaging approaches, including computed tomography angiography (CTA) and magnetic resonance angiography (MRA), with a higher number of incidentally diagnosed SRADs. Methods: we performed laboratory tests and radiological examinations (computed abdominal tomography and multiplanar reconstruction) that revealed multiple infarctions and ischemic areas with hypoperfusion in the upper middle third of the left kidney and in a large part of middle and lower areas of the right kidney; the left renal artery exhibited increased intimal thickening and arteritis. Results: The multiplanar reconstruction revealed bilateral renal artery dissection and multiple arterial infarctions disseminated throughout both kidneys. After a clinical follow-up and hypertension retargeting, the patient was discharged with dual antiplatelet therapy and ACE inhibitor drugs. No lipid-lowering therapy was needed. Conclusions: Spontaneous renal artery dissection (SRAD) is a rare clinical event that typically presents with acute low-back or flank pain, hypertension, fever, hematuria, and acute renal failure. The condition could be misdiagnosed or receive a delayed diagnosis due to its relative rarity and non-specific presentation. The gold standard is enhanced computed tomography (CT) scans, and if the diagnosis is positive, vascular multiplanar reconstruction is generally suggested, as it can display lesions more clearly. Over 300 cases have been reported since the first characterization of SRAD; however, to date, a consensus has not been reached on the most appropriate treatment. Conservative therapy, open surgery, and intravascular intervention have been reported as treatments for SRAD. [ABSTRACT FROM AUTHOR]

Simple Summary: The introduction of all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) has greatly improved the treatment of acute promyelocytic leukemia (APL), leading to high remission and survival rates. However, real-world outcomes are worse than those seen in clinical trials, largely due to the exclusion of older patients and those with comorbidities from trials. Moreover, the results from clinical trials overlook patients who die of APL complications before registering for trials. Delays in diagnosis and treatment, along with the limited experience and resources of some community healthcare centers in managing APL and its complications contribute to higher early mortality rates. Ongoing education and collaboration between local healthcare providers and specialists are vital to improve APL outcomes. Regular monitoring for disease recurrence and management of treatment side effects are also important. Additionally, understanding the phenomenon of APL clusters—groups of cases over specific times or areas—can help improve resource allocation for better outcomes. The advent of all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) has revolutionized the treatment of acute promyelocytic leukemia (APL), resulting in excellent rates of remission and long-term survival. However, real-world outcomes often fall short of those observed in clinical trials due to various factors related to patient demographics and clinical practices. This review examines APL treatment outcomes in real-world settings and highlights the phenomenon of APL clusters. Clinical trials frequently exclude older patients and individuals with significant comorbidities, yet these groups represent a substantial portion of patients in clinical practice. Early mortality remains high in real-world settings, compounded by delayed diagnosis and treatment initiation, as well as the inexperience of some community providers and limited resources of their centers in managing APL and its associated complications. High rates of disease and induction-related complications further exacerbate early mortality. Continuous education and collaboration between community healthcare centers and expert institutions are essential, and international partnerships between resource-limited settings and expert centers can improve global APL outcomes. Ongoing monitoring for measurable residual disease (MRD) recurrence and long-term treatment toxicity, coupled with comprehensive patient evaluations, and experienced management, can enhance long-term outcomes. The clustered incidence of APL, while frequently reported, remains poorly understood. Regular reporting of these clusters could provide valuable insights into disease pathology and aid in developing predictive models for APL incidence, which would guide future resource allocation. [ABSTRACT FROM AUTHOR]

Background: Osteoporotic fractures are a common clinical sign of Cushing syndrome (CS). However, Cushing diagnosis can occur years after this clinical manifestation. Methods: Herein, we present the case of a 45-year-old woman who was referred to our department for further diagnosis and treatment. Results: The patient was already under treatment for arterial hypertension and osteoporosis and was recently diagnosed with dyslipidemia and type 2 diabetes. She reported several previous fractures starting already 8 years before presentation. An adrenal CS was diagnosed, and the patient was treated with laparoscopic adrenalectomy, with a subsequent complete remission of her hypercortisolism. This case report presenting a particularly long time gap between initial osteoporosis signs and the final diagnosis underlines the need for an investigation into secondary osteoporosis in low-energy fractures also in the peripheral skeleton. In this context, we performed a literature review, including case reports with fragility fractures that were attributed to endogenous CS. Conclusions: In summary, a delayed diagnosis of CS in patients with a previous accumulation of such fractures is a worrisome observation and should be considered in everyday clinical practice in order to improve the timely diagnosis and treatment of CS. [ABSTRACT FROM AUTHOR]

Background: Children's eye disorders are a major cause of irreversible vision loss. Delays in diagnosing eye problems in children are recurring problems that require quick attention. This study assesses parents' knowledge, attitudes, and practices regarding the early ophthalmological screening of preschool-aged children in Jazan, KSA. Methods: An observational cross-sectional study was conducted among 522 parents of preschool-aged children in the Jazan region. A self-administered web-based questionnaire was randomly distributed to the parents via WhatsApp. The survey tool consisted of four main sections: socio-demographic data, knowledge about eye care, attitudes toward eye screening, and eye care practices. Results: Parents' level of knowledge regarding children's eye care was distributed as follows: low (21.5%), medium (40.2%), and high (38.4%). Parent gender, age, occupation, level of income, and nationality showed no statistically significant association with the knowledge level (p > 0.05 for all). However, parent education played a significant role (p = 0.013). Further, parents expressed a positive attitude toward the early screening of eye problems, as more than 90% agreed that early eye examinations for children reduce complications from visual problems and that the increased use of electronic devices requires early eye examinations. Almost 47.0% of the parents had examined their children's eyes when they were between 1 and 5 years of age, compared with only 10.3% of parents of children less than 1 year of age. The multiple linear regression model for factors that predict knowledge level among the study participants showed that having a child undergo early screening is positively associated with an increased knowledge score (p < 0.05). Conclusions: Jazan parents showed a positive attitude toward the early screening of eye problems, and one-third had a high level of knowledge regarding children's eye care. However, the proportion of those who practiced early eye screening was low. More health education is necessary to increase parents' awareness regarding early eye care practices. [ABSTRACT FROM AUTHOR]

The aggressive nature of gastric cancer often leads to late diagnosis and poor prognosis. Chemotherapy and the more recently added immunotherapy remain key treatments for this disease. Several studies have focused on identifying tissue biomarkers with prognostic and/or predictive roles and therefore the therapeutic options are rapidly growing. In this narrative review, we summarize the major tissue biomarkers routinely assessed in clinical practice. In addition, we focus on new evidence about emerging tissue biomarkers that could have a predictive role in future therapeutic approaches and also on the potential role of liquid biopsy in this neoplasm. [ABSTRACT FROM AUTHOR]

Background and Clinical Significance: Biliary tract injuries are a recognized complication of laparoscopic cholecystectomy. Early diagnosis and prompt management are crucial to minimize complications such as bile leaks, strictures, and fistula formation. This case report highlights the use of a biodegradable biliary stent in managing a complex biliary injury and discusses the impact of delayed diagnosis on treatment outcomes. Case Presentation: We present the case of a 30-year-old male who sustained a Strasberg E2 biliary tract injury during a laparoscopic cholecystectomy. Initially misdiagnosed, the injury was only recognized on the fourth postoperative day. The patient underwent a Roux-en-Y hepaticojejunostomy and subsequently developed a postoperative biliary fistula, which was managed with percutaneous drainage. A biodegradable biliary stent was later placed to address a stricture and minimize the need for future interventions. One year later, the patient presented with symptoms of cholangitis, and radiological findings revealed a narrowing of the biliary lumen. The stricture was resolved and an endoscopic gastrojejunal shunt was placed to prevent further complications. The patient is currently in good condition with no signs of further complications. Conclusions: This case emphasizes the importance of early diagnosis in managing biliary tract injuries and highlights the potential of biodegradable stents to reduce the need for repeat interventions. Despite a delayed diagnosis necessitating complex surgical procedures, the use of a biodegradable stent proved effective in managing postoperative complications. Further studies are needed to evaluate the long-term efficacy of biodegradable stents in similar clinical scenarios. [ABSTRACT FROM AUTHOR]

Gastric cancer (GC) presents a significant health challenge and ranks as the fifth most common cancer in the world. Unfortunately, most patients with GC exhaust standard care treatment options due to late diagnosis and tumour heterogeneity that leads to drug resistance, resulting in poor survival outcomes. Potentially, this situation can be improved by personalising treatment choice. Organoids are an emerging cell model system that recapitulates tumour heterogeneity and drug responses. Coupled with genomic analysis, organoid culture can be used to guide personalised medicine. The GC organoid field, however, lacks standardised methodologies for assessing organoid drug sensitivities. Comparing results across different GC organoid studies and correlating organoid drug responses with patient outcomes is challenging. Hence, we aim to summarise the methodologies used in GC organoid drug testing and correlation with clinical outcomes and discuss design considerations and limitations to enhance the robustness of such studies in the future. [ABSTRACT FROM AUTHOR]

Vaginal intraepithelial neoplasia (VAIN), linked to HPV infection, is a condition that is often overlooked during colposcopy, especially in the vaginal vault area, as clinicians tend to focus more on cervical lesions. This oversight can lead to missed or delayed diagnosis and treatment for patients with VAIN. Timely and accurate classification of VAIN plays a crucial role in the evaluation of vaginal lesions and the formulation of effective diagnostic approaches. The challenge is the high similarity between different classes and the low variability in the same class in colposcopic images, which can affect the accuracy, precision, and recall rates, depending on the image quality and the clinician's experience. In this study, a dual-branch lesion-aware residual network (DLRNet), designed for small medical sample sizes, is introduced, which classifies vaginal lesions by examining the relationship between cervical and vaginal lesions. The DLRNet model includes four main components: a lesion localization module, a dual-branch classification module, an attention-guidance module, and a pretrained network module. The dual-branch classification module combines the original images with segmentation maps obtained from the lesion localization module using a pretrained ResNet network to fine-tune parameters at different levels, explore lesion-specific features from both global and local perspectives, and facilitate layered interactions. The feature guidance module focuses the local branch network on vaginal-specific features by using spatial and channel attention mechanisms. The final integration involves a shared feature extraction module and independent fully connected layers, which represent and merge the dual-branch inputs. The weighted fusion method effectively integrates multiple inputs, enhancing the discriminative and generalization capabilities of the model. Classification experiments on 1142 collected colposcopic images demonstrate that this method raises the existing classification levels, achieving the classification of VAIN into three lesion grades, thus providing a valuable tool for the early screening of vaginal diseases. [ABSTRACT FROM AUTHOR]

Simple Summary: Rabbits are commonly affected by respiratory diseases. Their small size and high respiratory rates make diagnosing these conditions difficult. Computed tomography (CT) is considered the best imaging modality for diagnosing lung problems in rabbits; however, it requires anesthesia for proper positioning and to minimize movement. Despite its advantages, there is a notable scarcity of studies investigating the baseline imaging characteristics of normal rabbit lungs. Anesthesia is known to produce artifacts that can exacerbate or obscure abnormal findings in CT images. On the other hand, some animals may not be stable enough upon presentation to undergo anesthesia, which can delay diagnosis. Sedation has been recommended in other species, such as cats and dogs, as an alternative to anesthesia, making CT scans safer for compromised patients. Understanding the effects of sedation and anesthesia on CT images of rabbit lungs is essential for providing better diagnostic options for these patients. Respiratory disease is common in rabbits, but subclinical conditions can be challenging to diagnose and may cause respiratory problems during anesthesia. CT is the preferred method for diagnosing lung diseases, but anesthesia can alter lung volume and cause lung lobe collapse. In this study, seventeen healthy 5-month-old male New Zealand white rabbits underwent thoracic CT scans under different conditions. Rabbits were sedated with midazolam and butorphanol and scanned in a sphinx position; they were then anesthetized with dexmedetomidine and ketamine and scanned again in sternal recumbency during spontaneous breathing. Lastly, apnea was induced using intermittent positive pressure ventilation (IPPV) for a final scan. Lung volume and density were measured using the 3D Slicer version 5.6.2 software, with thresholds set between −1050 and −100 Hounsfield Units (HU). Sedated animals had significantly higher total lung volume (69.39 ± 10.04 cm3) than anesthetized (47.10 ± 9.28 cm3) and anesthetized apnea rabbits (48.60 ± 7.40 cm3). Mean lung attenuation during sedation was −611.26 HU (right) and −636.00 HU (left). After anesthesia induction, values increased to −552.75 HU (right) and −561.90 HU (left). Following apnea induction, attenuation slightly decreased to −569.40 HU (right) and −579.94 HU (left). The results indicate that sedation may be preferable for rabbit lung CT to minimize anesthesia-related changes. [ABSTRACT FROM AUTHOR]

Background: The International Normalized Ratio (INR) monitors anticoagulant treatment but relies on laboratory-based services. This could limit access to rapid monitoring and increase the diagnostic delay, both of which may be addressed by point-of-care testing (POCT). This study investigated the LumiraDx POC platform for INR monitoring. Methods: INR was measured on recalcified residual venous (n = 94) specimens from Chris Hani Baragwanath Hospital and capillary blood specimens (n = 254) from consenting enrolled participants at Charlotte Maxeke Johannesburg Academic Hospital Anticoagulation clinic, Johannesburg, South Africa. Standard-of-care (SOC) INR was measured on sodium-citrated venous blood using the Sysmex-CS2500 platform (Siemens Healthcare) and Neoplastin-R (Roche Diagnostics and Diagnostica Stago, Paris, France) within 2 h post-venipuncture. Within run, precision was measured using 2 LumiraDx control levels. The statistical agreement of paired INR measurements was also stratified by dosing decision. Results: The precision was within the manufacturer's claim for controls (level 1%CV: 3.63, level 2%CV: 2.24). Accuracy analysis showed a moderate overall agreement compared to the SOC INR results with a correlation coefficient of 0.94 (95% Cl, (0.9267 to 0.9497)). The overall precision (ρ > 0.9) and accuracy (Cb = 0.9842) were good with an absolute bias of 0.07. The 95% confidence intervals for the slope and intercept did not include 1.00 and 0.00, respectively; however, the total calculated error was within the minimal acceptable limits. Conclusion: The LumiraDx INR Test showed a good performance compared to laboratory-based testing and provided opportunity for rapid and patient-centric care. Owing to an increasing positive bias for INR > 3.5, confirmation with laboratory INR measurements may be required. [ABSTRACT FROM AUTHOR]

Cytomegalovirus (CMV) is a common cause of infection in immunocompromised individuals, such as patients with hematological malignancies or AIDS, but can also occur in patients with other acquired immunodeficiencies. In tissue-invasive diseases, CMV diagnosis requires CMV DNA in the plasma and the histological confirmation of CMV in a tissue or organ. Evidence of CMV colitis requires a characteristic endoscopic picture with ulcers with a well-defined, convex appearance and CMV viral inclusions in the form of an "owl's eye" on mucosal sections stained with hematoxylin and eosin. CMV-specific immunohistochemistry is the gold standard for identifying CMV in tissue biopsies. It is important to consider a CMV infection in the diagnostic process, as it may delay the diagnosis and the treatment. We present the case of a 78-year-old patient with amiodarone interstitial lung disease who was treated with methylprednisolone. Two weeks after the start of his treatment, he was admitted to the hospital for acute gastroenterocolitis and Addisonian crisis. An examination had confirmed a tissue-invasive CMV disease. He was treated with valganciclovir for a total of six weeks. After the completion of treatment, the patient showed no clinical signs of CMV infection, and both laboratory and histological examinations revealed no residual CMV disease. Tissue-invasive CMV disease can occur in patients with acquired immunodeficiency, which may result from various causes, including glucocorticoid treatment. [ABSTRACT FROM AUTHOR]

This review presents current opinions on an uncommon condition called catamenial pneumothorax (CP), which is usually associated with thoracic endometriosis syndrome (TES). TES is characterized by the presence of endometriotic lesions in pleura and lung parenchyma and presents with various clinical signs and symptoms, including catamenial pneumothorax. Their diagnosis is often delayed. Pulmonary endometric lesions, however, often detected in patients with hemothorax and hemoptysis, may be absent in a proportion of cases of pneumothorax. The typical presentation of CP includes signs and symptoms of pneumothorax, which occur along with menstruation, most commonly around 24 h before and 48–72 h after its onset. However, they may not occur during every menstrual cycle. Suggestive CP lesions on conventional radiography (RTG) include pneumoperitoneum accompanying right-sided pneumothorax, lung opacities, pleural effusion, and nodular infiltrates. Chest and abdomen computed tomography (CT), particularly contrast-enhanced, may additionally show pneumoperitoneum and diaphragmatic lesions. The management of CP includes supportive treatment of acute symptoms and causal treatment to prevent recurrent disease. This article presents the pathophysiology of CP, an overview of the diagnostic methods, and the current therapeutic approaches. The necessity for a multidisciplinary approach to the diagnosis of CP and to the choice of the best treatment modality is underlined (promising new therapeutic options are also mentioned); however, international guidelines are still missing. [ABSTRACT FROM AUTHOR]

Objectives: This study investigated the characteristics of adolescent-onset epilepsy (AOE) and conducted genetic tests on a cohort of 76 Korean patients to identify variants and expand the spectrum of mutations associated with AOE. Methods: Clinical exome sequencing after routine karyotyping and chromosomal microarray was performed to identify causative variants and expand the spectrum of mutations associated with AOE. Results: In cases of AOE without neurodevelopmental delay (NDD), this study identified four likely pathogenic variants (LPVs) or variants of uncertain significance (VUS) and two copy number variations (CNVs). To explore the unique features of AOE; clinical manifestations were compared between patients with and without NDD. The analysis revealed statistically significant differences in the prevalence of males and the yield of genetic testing results. AOE without NDD had a lower prevalence in males (49%) compared to AOE with NDD (60%) (p = 0.007). Genetic alterations: AOE with NDD exhibited a higher frequency of genetic alterations (35%) compared to AOE without NDD (12%) (p = 0.011). Thorough evaluation of AOE can be particularly challenging in adolescent patients. Some individuals may display genetic variations due to a phenomenon known as locus heterogeneity, where different genetic causes lead to similar clinical presentations. Conclusions: Implementing a robust genetic workflow is crucial for accurately diagnosing AOE, even in cases with complex genetic underpinnings. This study underscores the importance of genetic testing as an essential diagnostic tool for AOE. Identifying genetic variants and understanding their clinical correlations can aid in improving diagnostic accuracy and optimizing treatment approaches for adolescent patients with epilepsy. [ABSTRACT FROM AUTHOR]

Background/Objective: Lysosomal storage diseases (LSDs) are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by the intralysosomal accumulation of undegraded substrates, resulting in the damage of multiple organ systems. The spectrum of clinical manifestations is extremely heterogeneous. LSD diagnosis and management still present many issues. Methods: A group of Italian experts and patients' representatives met to discuss some critical aspects, and among the most impactful are early diagnosis, the transition of the patient from pediatric to adult age, territorial management, and the multidisciplinary approach. Results: Possible solutions to diagnostic delays may be a widespread newborn screening and screening programs on selected populations. The lack of a structured transition process could be helped by the drafting of shared diagnostic and therapeutic care pathways beyond the availability of databases accessible to the different levels that manage a patient. Territorial management could benefit from telemedicine, but a homogeneous diffusion of home therapy, not yet everywhere possible, is essential. A fundamental role is played by the patient associations, which should be increasingly involved in the political choices. It is also crucial to create structured multidisciplinary teams of experts for disease management and comorbidities. A transversal need appears to be greater training on LSDs. In Italy, the "Statement of Udine" was developed to guide further steps towards improvements in inherited metabolic medicine in adults, referencing the experience from the United Kingdom. Conclusions: Much can be done for the early diagnosis and management of LSDs with an effective treatment, but many aspects need improvement for the overall management of the patient. An investment in dedicated resources, formal recognition, and training is needed to address these unmet needs. [ABSTRACT FROM AUTHOR]

Introduction: Delirium in postoperative geriatric hip fracture patients is a serious and often preventable condition. If detected in time, it can be treated, but a delay in the diagnosis and initiation of treatment impairs outcomes. A novel approach to detect delirium is to use point-of-care electro-encephalogram (EEG) recording with automated analysis. In this study, the authors investigated whether screening for delirium with EEG recording and automated analysis resulted in reduced length of stay after surgery and superior screening performance in comparison to the Delirium Observation Screening Scale (DOS). Methods: This randomized control trial was conducted at two geriatric trauma centres in the Netherlands. Patients were eligible for inclusion if they were aged 70 years or above, were admitted to the geriatric trauma unit and undergoing surgery for a hip fracture. Patients were randomized to either the intervention (EEG-based brainwave analysis) or control group (DOSS screening tool). Participants were screened for delirium twice a day during three consecutive days starting at day 0 of the surgery, with the first measurement before the surgery. The primary outcome was length of stay. In addition, the screening performance for both automated EEG-based brainwave analysis and DOS was determined. Results: A total of 388 patients were included (189 per arm). There were no differences between groups in terms of median hospital length of stay (DOS 7 days (IQR 5.75–9) vs. EEG-based brainwave analysis 7 days (IQR 5–9); p = 0.867). The performance of EEG-based brainwave analysis was considerably lower than that of the DOSS in terms of discrimination between patients with and without postoperative delirium. Conclusions: Screening for postoperative delirium in geriatric hip fracture patients using automated EEG-based brainwave analysis did not result in a shorter length of stay. Additionally, the results of this study show no clear advantage in terms of the screening performance of EEG-based brainwave analysis over the current standard of care for geriatric patients with a hip fracture. [ABSTRACT FROM AUTHOR]

Background: People with early axial spondyloarthritis experience a diagnostic delay and a similar disease burden as people with axial spondyloarthritis at a later stage of the disease. In many European countries, patients with early axial spondyloarthritis do not have access to an interdisciplinary rehabilitation team. The objective of this study was to develop a new evidence-based physiotherapist-coordinated interdisciplinary rehabilitation intervention for individuals suspected of axial spondyloarthritis. This development of the rehabilitation intervention is part of the SPINCODE project which focusses on early diagnosis and treatment for people with axial spondyloarthritis. Methods: The development of the intervention encompasses: (i) identifying the evidence base and program theories; (ii) modeling and remodeling the intervention; and (iii) describing the developed intervention. Results: The six-month SPINCODE rehabilitation intervention is a physiotherapist-coordinated, interdisciplinary, outpatient rehabilitation intervention at a specialized rheumatology hospital. The intervention consists of: (i) individual physiotherapist-coordinated consultations with assessment, goal setting, tailored physical activity support, and the defined goals, and coordination across the interdisciplinary team at the hospital and across primary and secondary healthcare levels; (ii) group sessions, encompassing patient education and peer support; and (iii) optional individual support from the interdisciplinary team. Physiotherapists from private care working with the patient enrolled in the SPINCODE study are offered digital support from the hospital-based physiotherapists. Conclusions: The developed physiotherapist-led interdisciplinary SPINCODE rehabilitation intervention is ready for feasibility testing. [ABSTRACT FROM AUTHOR]

Background/Objectives: Effective management of acute pancreatitis (AP) hinges on prompt volume resuscitation and is adversely affected by delays in diagnosis. Given diverse clinical settings (tertiary care vs. community hospitals), further investigation is needed to understand the impact of the initial setting to which patients presented on clinical outcomes and quality of care. This study aimed to compare outcomes and quality indicators between AP patients who first presented to the emergency department (ED) of a tertiary care center and AP patients transferred from community hospitals. Methods: This study included AP patients managed at our tertiary care hospital between 2008 and 2018. We compared demographics and outcomes, including length of stay (LOS), intensive care unit (ICU) admission, rates of local and systemic complications, re-admission rates, and one-year mortality in transferred patients and those admitted from the ED. Quality indicators of interest included duration of volume resuscitation, time until advancement to enteral feeding, pain requiring opioid medication [measured in morphine milliequivalent (MME) dosing], and surgical referrals for cholecystectomy. Categorical variables were analyzed by chi-square or Fisher's exact test; continuous variables were compared using Kruskal–Wallis tests. Regression was performed to assess the impact of transfer status on our outcomes of interest. Results: Our cohort of 882 AP patients comprised 648 patients admitted from the ED and 234 patients transferred from a community hospital. Transferred patients were older (54.6 vs. 51.0 years old, p < 0.01) and had less frequent alcohol use (28% vs. 39%, p < 0.01). Transferred patients had a significantly greater frequency of gallstone AP (40% vs. 23%), but a lower frequency of alcohol AP (16% vs. 22%) and idiopathic AP (29% vs. 41%) (p < 0.001). Regarding clinical outcomes, transferred patients had significantly higher rates of severe AP (revised Atlanta classification) (10% vs. 2% severe, p < 0.001) and ICU admission (8% vs. 2%, p < 0.001) and longer median LOS (5 vs. 4 days, p < 0.001). Regarding quality indicators, there was no significant difference in the number of days of intravenous fluid administration, or days until advancement to enteral feeding, pain requiring opioid pain medication, or rates of surgical referral for cholecystectomy. Conclusions: Though the quality of care was similar in both groups, transferred patients had more severe AP with higher rates of systemic complications and ICU admissions and longer LOS, with no difference in quality indicators between groups. [ABSTRACT FROM AUTHOR]

Introduction: In endometriosis, urinary tract involvement occurs in 1–5.5% of cases, where the ureter is affected in 9–23%. Unfortunately, endometriosis may remain asymptomatic even with significant anatomical progression. A delay in the diagnosis and treatment of ureteral endometriosis may result in hydronephrotic kidney damage and functional impairment. Methods: We present a case of a 36-year-old woman with a left ureteral stricture caused by deep infiltrating endometriosis accompanied by severe kidney-induced arterial hypertension. In March 2022, the patient underwent both laparoscopic excision/evaporation of deep infiltrating endometriosis from the left ovarian fossa and left ureterolysis, followed by an ureterorenoscopic dilatation of the left ureter via the placement of an Allium self-expandable stent. Results: This stent was successfully removed 18 months later. A computed tomography check-up confirmed normal ureteral patency with no signs of endometriosis. Elevated blood pressure also resolved. Conclusions: Deep infiltrating endometriosis can lead to asymptomatic yet serious complications. A successful treatment of ureteral endometriosis may require multidisciplinary management, including a simultaneous laparoscopic and ureterorenoscopic approach. Ureteral stent placement is a minimally invasive state-of-the-art solution for ureteral stricture(s) and should be considered the first choice in women of reproductive age suffering from ureteral deep infiltrating endometriosis. [ABSTRACT FROM AUTHOR]

Simple Summary: Sarcomas refer to a broad group of rare tumors that develop from bone and soft tissue. Sarcoma diagnosis is challenging because of its rarity and complexity, leading to misdiagnosis and delays in diagnosis and access to appropriate therapy. Liposarcomas are a common form of sarcoma, and there are four subtypes of liposarcomas: well-differentiated liposarcoma/atypical lipomatous tumors, dedifferentiated liposarcoma, myxoid liposarcoma, and pleomorphic liposarcoma. Treatment options are limited for those diagnosed with liposarcoma. Currently, the mainstay of therapy for primary localized liposarcoma is surgical removal of the tumor. Radiotherapy is commonly used in extremity tumors before surgery but has unproven effectiveness in the retroperitoneum. Chemotherapy sensitivity varies by liposarcoma subtype, further complicating treatment. As such, limited conventional treatment options (e.g., radiotherapy or chemotherapy) remain substantial barriers to care. This review provides information about the epidemiology, pathology, and treatment options currently available for liposarcoma. Sarcomas are a heterogeneous group of neoplasms that develop from bone and soft tissue. Approximately 80% of sarcomas affect soft tissue, with liposarcoma being one of the most common types, accounting for approximately 13–20% of all soft-tissue sarcomas. Per the World Health Organization, liposarcoma can be broadly classified into four different subtypes based on histologic examination: well-differentiated liposarcoma (WDLS)/atypical lipomatous tumors (ALT), dedifferentiated liposarcoma (DDLS), myxoid liposarcoma (MLS), and pleomorphic liposarcoma (PLS). WDLS/ALT is the most common liposarcoma subtype, accounting for approximately 31–33% of liposarcomas; DDLS accounts for 20%; MLS accounts for 19%; and PLS, the least common subtype, represents 7–8% of liposarcomas. Sarcoma diagnosis is challenging because of its rarity, intrinsic complexity, and diagnostic technological complexity. Sarcomas are misdiagnosed in approximately 30% of cases, leading to delays in diagnosis and access to appropriate therapy and clinical trials. Furthermore, treatment options are limited for those diagnosed with liposarcoma. This review discusses the epidemiology, pathology, and treatment options currently available for liposarcoma. [ABSTRACT FROM AUTHOR]

Background/Objectives: A late HIV diagnosis represents a significant public health concern in Poland, with approximately 50% of patients being identified as late presenters (LPs), resulting in the delayed initiation of treatment. This study assesses the potential of HIV self-testing (HIVST) to enhance early detection, particularly among heterosexual individuals, and evaluates its advantages and limitations within the Polish context. Methods: This study examines the advantages and disadvantages of HIVST by analyzing data from various studies. It focuses on the acceptability, sensitivity, and specificity of HIVST, comparing blood-based and oral fluid-based tests. Moreover, the economic impact and potential public health benefits of HIVST in Poland are evaluated. Results: HIVST is well-accepted, especially among key populations; it can reduce stigma and enhance privacy. The results of studies conducted in Poland indicate that heterosexuals are more inclined to use self-testing methods than traditional diagnostic procedures. On the other hand, HIVST has the potential for false-negative results due to the serological window and the possibility of missed diagnoses of other sexually transmitted infections (STIs). Moreover, the cost of HIVST remains a significant barrier, as it is not publicly funded in Poland. Conclusions: Despite its limitations, HIVST offers a number of significant benefits, including increased rates of testing and earlier detection, which could prove vital in reducing the transmission of HIV in Poland. This study proposes that increased funding, the integration of HIVST into public health strategies, and further research to enhance its implementation, alongside education and support for its effective use, should be prioritized. [ABSTRACT FROM AUTHOR]

In this review, we present a case report of an immunocompetent 58-year-old male who presented with disseminated histoplasmosis (DH) outside of the known endemic regions. Due to his atypical clinical presentation that did not fit the classical clinical picture of DH, the diagnosis was delayed. In addition, we researched DH in the immunocompetent hosts as these cases are not common and leave the patient population vulnerable to delayed diagnosis. The literature supports considering histoplasmosis in the differential diagnosis among patients who present with possible exposures outside of endemic regions and are immunocompetent. [ABSTRACT FROM AUTHOR]

Cholesterol crystal embolism (CCE) is an underrecognized multisystemic disease caused by the displacement of cholesterol crystals from atheromatous aortic plaques to distal vascular beds, leading to ischemic injury of target organs, particularly the kidneys, i.e., atheroembolic renal disease (ARD). According to recent research, cellular necrosis, induced by crystal-induced cytotoxicity, enhances the autoinflammatory cascade of the NLPR3 inflammasome, leading in turn to the so-called "necroinflammation". The purported involvement of the latter in CCE offers a rationale for the therapeutic approach with anti-inflammatory drugs such as glucocorticoids, the use of which has long been a matter of debate in CCE. Diagnostic delay and no consistent evidence regarding efficacious treatment, leading to inconsistency in clinical practice, may worsen the already poor prognosis of ARD. The possible role of glucocorticoids in the treatment of ARD is thereby herein explored in a narrative fashion, analyzing the limited data from case reports and clinical trials. [ABSTRACT FROM AUTHOR]

Background: Revised El Escorial (rEEC) and Awaji criteria are currently used for diagnosing and categorizing amyotrophic lateral sclerosis (ALS). However, they are complex; their sensitivity is still not optimal for research purposes, and they present high inter-rater variability in clinical practice. To address these points, in 2019, a new set of diagnostic criteria was proposed, namely the Gold Coast criteria (GCC), characterized by a dichotomous diagnostic categorization, i.e., ALS or not ALS. Methods: In order to investigate the sensitivity, specificity, and clinical usefulness of GCC in a practical clinical setting, we retrospectively evaluated 131 patients diagnosed with ALS and 104 control subjects. ALSFRS-R score, electrophysiological tests, neuroradiological investigations, and CSF analysis were obtained. rEEC, Awaji, and GCC were applied at the first and last evaluations. Results: The sensitivity of GCC (93.1%; 96.1%) was greater than rEEC (71.8%; 87%) and Awaji criteria (77.8%; 89.3%) both at the first visit and last follow-up. The GCC's specificity (28.8%) is lower than that of the other two criteria (rEEC 45.2%; Awaji 43.3%). Conclusions: Our study suggests that in a real-world setting, the GCC are more sensitive and have substantially lower risk of false negative diagnoses than rEEC and Awaji criteria. Although rEEC had the highest specificity, they may delay the diagnosis. Systematically using the GCC could help to achieve an earlier diagnosis and quickly refer patients to the correct management. The low specificity of GCC is likely to not significantly impact patient recruitment in clinical trials; therefore, its use might allow a faster and earlier enrollment. [ABSTRACT FROM AUTHOR]

Gestational pemphigoid is a rare, autoimmune, subepidermal bullous disease with an incidence of 1 in 50,000 pregnancies, displaying itself through pruritic erythema and urticarial papules and plaques that evolve into tense bullae. Histopathological findings consist of subepidermal vesicles with perivascular eosinophils and lymphocytes, and direct immunofluorescence reveals C3 complement and, more rarely, IgG in a linear band along the basement membrane. The course is usually self-limiting within 6 months after delivery but, later, can be triggered by subsequent pregnancies, menstruation, or treatment with oral contraceptives. The newborn can be affected due to the transplacental passage of the maternal immunoglobulins, but, usually, less than 10% of newborns will develop lesions similar to pemphigoid gestationis. The diagnosis and management pose a difficult challenge and should be guided by the severity of the disease. We, therefore, provide a short literature review and discussion plus a case from our clinic, with a typical presentation but a delayed diagnosis and an undulating evolution, with severe manifestations and particularly difficult management due to unexpected complications. [ABSTRACT FROM AUTHOR]

Introduction: The incidence of venous thromboembolism is estimated to be around 3% of cancer patients. However, a majority of incidental pulmonary embolism (iPE) can be overlooked by radiologists in asymptomatic patients, performing CT scans for disease surveillance, which may significantly impact the patient's health and management. Routine imaging in oncology is usually reviewed with delayed hours after the acquisition of images. Nevertheless, the advent of AI in radiology could reduce the risk of the diagnostic delay of iPE by an optimal triage immediately at the acquisition console. This study aimed to determine the accuracy rate of an AI algorithm (CINA-iPE) in detecting iPE and the duration until the management of cancer patients in our center, in addition to describing the characteristics of patients with a confirmed pulmonary embolism (PE). Materials and Methods: This is a retrospective analysis of the role of Avicenna's CE-certified and FDA-cleared CINA-iPE algorithm in oncology patients treated at Gustave Roussy Cancer Campus. The results obtained from the AI algorithm were compared with the attending radiologist's report and were analyzed by both a radiology resident and a senior radiologist. In case of any discordant results, the reason for this discrepancy was further investigated. The duration between the exact time of the CT scan and analysis was assessed, as well as the duration from the result's report and the start of active management. Results: Out of 3047 patients, 104 alerts were detected for iPE (prevalence of 1.3%), while 2942 had negative findings. In total, 36 of the 104 patients had confirmed PE, while 68 alerts were false positives. Only one patient reported as negative by the AI tool was deemed to have a PE by the radiologist. The sensitivity and specificity of the AI model were 97.3% and 97.74%, while the PPV and NPV were 34.62% and 99.97%, respectively. Most causes of FP were artifacts (22 cases, 32.3%) and lymph nodes (11 cases, 16.2%). Seven patients experienced delayed diagnosis, requiring them to return to the ER for treatment after being sent home following their scan. The remaining patients received prompt care immediately after their testing, with a mean delay time of 8.13 h. Conclusions: The addition of an AI system for the detection of unsuspected PEs on chest CT scans in routine oncology care demonstrated a promising efficacy in comparison to human performance. Despite a low prevalence, the sensitivity and specificity of the AI tool reached 97.3% and 97.7%, respectively, with detection of all the reported clinical PEs, except one single case. This study describes the potential synergy between AI and radiologists for an optimal diagnosis of iPE in routine clinical cancer care. Clinical relevance statement: In the oncology field, iPEs are common, with an increased risk of morbidity when missed with a delayed diagnosis. With the assistance of a reliable AI tool, the radiologist can focus on the challenging analysis of oncology results while dealing with urgent diagnosis such as PE by sending the patient straight to the ER (Emergency Room) for prompt treatment. [ABSTRACT FROM AUTHOR]

Background/Objectives: Epiphora, or excessive tearing, is a common symptom often attributed to benign conditions such as dry eye or nasolacrimal duct obstruction. However, it can also be an early indicator of lacrimal sac tumors, which are frequently misdiagnosed or diagnosed late due to their subtle presentation. This study aims to identify the clinical features that contribute to delays and misdiagnoses of lacrimal sac tumors in patients presenting with epiphora, with the goal of improving early detection and treatment outcomes. Methods: This retrospective study reviewed medical records from Taipei Veterans General Hospital between 2007 and 2023, focusing on patients who presented with epiphora and were later diagnosed with pathologically confirmed lacrimal sac tumors. Inclusion criteria were limited to cases that were initially misdiagnosed or had a delayed diagnosis, with imaging and clinical evaluations confirming tumor-related tear drainage obstruction. Patients with non-tumor causes of epiphora were excluded. Results: Eleven cases of lacrimal sac tumors were identified, including two benign and nine malignant tumors. The average duration from symptom onset to diagnosis was 22.4 months. Common symptoms included epiphora (100%), discharge (54.5%), and hemolacria (18.2%). Subtle clinical signs, such as asymmetry in the medial canthal region and non-tender swelling, were frequently noted. Despite receiving appropriate surgical and adjuvant treatments, the impact of delayed diagnosis was significant. Two patients succumbed to tumor-related disease; one developed lung metastasis 12 years after diagnosis, and another experienced recurrence during a six-year follow-up after undergoing extensive exenteration, adjuvant chemotherapy, and radiotherapy. Conclusions: Lacrimal sac tumors can present insidiously with symptoms often mistaken for benign conditions, leading to significant diagnostic delays. Thorough history taking, meticulous physical examination, and timely imaging are crucial for early detection. Increased clinician awareness and a high index of suspicion for lacrimal sac tumors in patients with atypical epiphora are essential to improve prognosis and reduce the risk of severe outcomes. [ABSTRACT FROM AUTHOR]

Background/Objectives: Endometriosis and inflammatory bowel disease (IBD) share some epidemiological, clinical and pathogenetic features. A differential diagnosis between pelvic endometriosis and IBD may be challenging, even for expert clinicians. In the present review, we aimed to summarize the currently available data regarding the relationship between endometriosis and IBD and their possible association. Methods: The PubMed and Scopus database were considered, by searching the following terms: "Crohn's Disease", "Ulcerative Colitis", "Endometriosis", "Adenomyosis", and "Inflammatory Bowel Disease", individually or combined. Full-text papers published in English with no date restriction were considered. Results: Few studies have researched the possible association between endometriosis and IBD. Both conditions are characterized by chronic recurrent symptoms, which may be shared (abdominal pain, fatigue, infertility, menstrual irregularities, diarrhea, constipation). Deep infiltrating endometriosis (DIE) can cause bowel symptoms. In a large Danish study, a 50% increased risk of IBD was observed in women with endometriosis. A missed diagnosis of endometriosis and an increased risk of endometriosis has been reported in IBD. Current evidence does not support an association between endometriosis and IBD characteristics. However, IBD may be associated with DIE, characterized by pelvic symptoms (dyschezia, dyspareunia). Preliminary observations suggest an increased IBD risk in patients with endometriosis treated with hormonal therapy. Conclusions: Current findings suggest that a careful search is needed for concomitant endometriosis in subgroups of patients with IBD showing compatible symptoms and vice versa. A multidisciplinary approach including dedicated gastroenterologists and gynecologists is required for a proper search for IBD and endometriosis in subgroups of patients. This approach may avoid diagnostic delays or overtreatments for these conditions. [ABSTRACT FROM AUTHOR]

Introduction: We report the case of a neonate diagnosed with severe hemophilia A (HA) and conduct a literature review of cases of severe HA presenting at the neonatal age to help define the clinical diagnostic findings and existing differences between the sporadic and familial onset of this condition. Report of a Case: A 6-day-old newborn presented with worsening pallor, inappetence, and hyporeactivity for 48 h. The diagnosis was severe hemophilia A (HA), leading to an unfavorable outcome. A literature review focusing on case reports and series focusing on the clinical expression of HA in neonates was conducted, documenting clinical presentation, family history, and outcomes. Literature review: Forty patients were included. HA was observed in five cases (12.5%) of very preterm births (≤32 weeks) and in four cases (10%) of moderately or late preterm births. Seventeen patients (43%) had a family history, with inheritance being sporadic (21 newborns, 53%) or acquired (2 cases, 4%). Clinical onset typically occurred within the first week of life (approximately 8 out of 10 cases), while only three cases (7.5%) had onset after the first month. Inherited cases presented with hemorrhagic states (nine cases), hypovolemic shock (five cases), or intracranial hypertension (two cases). Sporadic cases showed localized bleeding (11 cases), hypovolemic shock (5 cases), or neurological symptoms like seizures and anisocoria (5 cases). Acquired cases included severe intracranial hemorrhage in one case. Conclusions: Neonatal HA can manifest with severe symptoms and rapid progression, making early diagnosis crucial. Non-specific signs and the absence of coagulophaty disorders in family history can delay diagnosis. Symptoms like prolonged bleeding, cutaneous hematomas, or intracranial bleeding necessitate ruling out major coagulopathy, and neurological signs require immediate imaging to exclude intracranial bleeding. [ABSTRACT FROM AUTHOR]

Newborn screening (NBS) has been one of the big innovations in public health. It has grown over the decades, especially with the introduction of tandem mass spectrometry. However, it is likely to expand significantly in the coming decades with the introduction of genomic testing. Traditionally, in NBS, there has been a pattern of repeat testing for confirmation and follow-up diagnostic testing. This follow-up is critical as NBS is a screening program. This pathway is appropriate for low-cost tests, but if public health authorities are going to invest in high-cost screening such as whole-genome sequencing, they are likely to baulk at repeating these expensive tests in a diagnostic setting. Our study investigates whether screening-grade data from NBS can be transitioned into diagnostic-grade data using a panel of single-nucleotide variants (SNVs) on a diagnostic specimen. These SNVs could be used to link the diagnostic specimen with all of the provenance requirements associated with routine pathology and the NBS genomic data. This strategy has large cost benefits and opens up the rapid use of NBS genomic data should a child present in an acute care setting and a genetic diagnosis is suspected. This approach will greatly speed up the confirmation of positive NBS results and reduce family anxiety due to delayed diagnostic testing. [ABSTRACT FROM AUTHOR]