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The objective of this study was to evaluate and compare the histopathological, clinical, and treatment characteristics of xanthogranulomatous cholecystitis (XGC) in patients undergoing cholecystectomy at a single center. Aim: We aim to enhance the understanding of its presentation and improve its differential diagnosis from other gallbladder pathologies. Methods: We retrospectively reviewed 6783 cholecystectomy cases performed between January 2015 and January 2023 at the General Surgery Clinic of Haydarpaşa Numune Training and Research Hospital, and a diagnosis of xanthogranulomatous cholecystitis was histopathologically established in 131 patients. In this retrospective study, we examined the clinicopathological characteristics, preoperative imaging methods and findings, histopathological images, surgical procedure methods, and postoperative complications of 131 patients. Results: The study included 131 patients, with ages ranging from 18 to 88 years, of which 74 (56.5%) were female and 57 (43.5%) were male. Ultrasound imaging was performed on 128 patients. Ultrasound imaging revealed wall thickening in 72.7% of cases, hypoechoic nodules in 13.3%, biliary tract pathologies in 10.9%, and adenomyomatosis in 3.1%. A total of 59 cases had MRI. On MRI, wall thickening was observed in 50.8% of cases, biliary tract pathologies in 33.9%, adenomyomatosis in 10.2%, hypoechoic nodules in 3.4%, and hypoechoic nodules + wall thickening (HN + WT) in 1.7%. Histopathological diagnosis was diffuse in 79.4% of cases and focal in 20.6%. In addition to cholecystectomy, non-surgical interventions were not required in 77.1% of the cases, while 11.5% underwent ERCP, 9.2% underwent percutaneous procedures, 1.5% underwent both ERCP and percutaneous procedures, and 0.8% underwent other non-surgical interventions. Of the surgeries, 93.1% were elective and 6.9% were emergency. Postoperative complications were not observed in 84% of the patients; 5.3% experienced surgical complications, 5.3% had surgical site infection, and 5.3% had other complications (pneumonia and urinary infection). The length of hospital stay ranged from 0 to 26 days, with a mean of 5.27 ± 4.59 days and a median of 4 days. Conclusions: Xanthogranulomatous cholecystitis is a rare disease of the gallbladder with no characteristic radiological or clinical findings and can often be confused with gallbladder cancer. Further studies involving larger populations are needed to improve the preoperative diagnosis. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Trauma & Emergency Surgery / Ulusal Travma ve Acil Cerrahi Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Transitional care is essential to maintain the continuity of care in younger patients with rheumatic diseases. In this study, we aimed to assess the transition readiness of rheumatology patients who had already transferred from pediatric to adult care using a questionnaire. Materials and Methods: We included young adult rheumatology patients who had already transferred to adult rheumatology care. The Transition Readiness Assessment Questionnaire (TRAQ) was used in the adult rheumatology clinic to assess the patients’ readiness; a retrospective chart review was conducted to include diagnosis, age at diagnosis, age at transfer, and current age. Results: Three hundred and ten patients (184 female and 126 male) participated in this study. The mean age at diagnosis, the mean age at transfer, and the mean age at the time of the study were 10.7 ± 4.29, 21.1 ± 1.69, and 24.0 ± 2.26 years, respectively. Most of the patients had familial Mediterranean fever, followed by arthritis, connective tissue disorders, and other diseases. Tracking health issues was the lowest-scored domain. Females scored significantly higher than males in the tracking health issue domain (P = .006) and managing health issue domain (P = .028) but not in the overall TRAQ score (P = .053). Patients in different diagnosis and transfer age groups scored similarly across the domains. Conclusion: In this study, females performed better than males in 2 domains of the TRAQ questionnaire. Diagnoses or transfer age groups were not associated with TRAQ outcomes. [ABSTRACT FROM AUTHOR]

Objective: The aim of the idiopathic granulomatous mastitis (IGM) consensus study was to evaluate the etiology, diagnostic steps, and differential diagnosis and propose a widely accepted clinical classification of this mysterious breast disease. Method: The organization of a national IGM consensus was decided by the joint evaluation of the Turkish Federation of Breast Diseases Societies, SENATURK, and the Society of Breast Surgery. First, a working group of 11 members was formed, and a survey and workshop were organized to reach a common consensus. The modified Delphi method was used in the consensus methodology. Voting rates of 80% and above were considered as acceptance. Results: The consensus was 45/50 (92%) that core needle biopsies are necessary for the diagnosis of IGM and 39/40 (97%) that a new clinical classification is needed. The proposed Turkish clinical classification of IGM was accepted by 94% in three rounds of voting. Conclusion: This disease should be considered etiologically idiopathic. Tissue diagnosis and pathological evaluation are recommended for treatment. The proposed IGM Turkey classification was strongly accepted. Plain Language Summary: Idiopathic granulomatous mastitis is a highly heterogeneous group of diseases. There is ongoing controversy regarding the etiology, clinical classification, and treatment algorithm of the disease. There is no common terminological language for the clinical signs and symptoms of the disease. Treatment algorithms are diverse, and there is no standardization. Scientific comparisons cannot be made precisely due to the inclusion of heterogeneous groups in studies. Since there is no consensus on the severity of the disease, the types of treatment do not allow for comparisons between groups with the same clinical severity. These scientific limitations create difficulties in establishing national/international treatment algorithms or the acceptance of proposed algorithms. This consensus, prepared by our working group, defines a diagnostic algorithm for disease diagnosis and a terminological classification. The classification system, prepared according to disease severity, will be a pioneer in comparing patient groups and developing treatment algorithms. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Health Academics / Sağlık Akademisyenleri Dergisi is the property of Journal of Health Academics and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: It is difficult to distinguish cytomegalovirus (CMV) infection and disease since CMV is a latent virus and can cause recurrent infections. Positive CMV tests may not necessarily be indicative of active disease. There is no clear threshold value for plasma CMV-DNA polymerase chain reaction (PCR) levels to distinguish disease from viral reactivation. In this study, we aimed to determine a numerical value to identify CMV-related clinical syndromes and to differentiate between CMV infection and disease in HIV/AIDS patients. Methods: HIV/AIDS patients aged ≥18 years with a positive CMV viral load in plasma of any titer were included in the study. Sociodemographic, clinical, and laboratory data were extracted from patient files. Cytomegalovirus-related disease was defined as the isolation or detection of viral proteins or nucleic acid in a tissue sample or any body fluid in the presence of clinical signs related to the organ involved. CMV infection was diagnosed based on evidence of CMV replication without CMV symptoms or signs. A ROC curve was created to determine a cut-off value to distinguish CMV infection and disease. Results: Eighteen patients had CMV-related disease, and 18 had CMV infection. Clinical and laboratory parameters were compared between the two groups. The end organs' involvement was detected in the CMV disease group, and gastrointestinal involvement was the most common. The CMV-DNA PCR threshold level among patients with CMV disease and infection was determined as 3154 copies/mL. The risk of CMV disease increased with decreasing CD4+ T lymphocytes count and increasing HIV viral load. Conclusion: Since CMV illness can have life-threatening effects, a precise and prompt diagnosis is essential. Antiviral therapy can reduce the morbidity and mortality of CMV infection. The CMV-DNA PCR threshold level determined in this study will guide clinicians in the early diagnosis of CMV disease. [ABSTRACT FROM AUTHOR]

Objective: The complete blood count (CBC) parameters and the ratios regarding these parameters have been demonstrated to be useful diagnostic biomarkers for many infectious diseases. Herein, we aimed to evaluate and compare the usefulness of the predictive role of the CBC in the differential diagnosis of pulmonary tuberculosis (TB) from community-acquired pneumonia (CAP) in children. We also compared serum electrolyte levels between the 2 diseases. Materials and Methods: In this retrospective study, we analyzed the efficacy of CBC parameters and neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), plateletto-lymphocyte ratio (PLR), neutrophil-to-monocyte-plus-lymphocyte ratio (NMLR), and serum electrolyte levels in the differential diagnosis of pulmonary TB from CAP in children. We also classified patients with TB into 2 groups according to the microbiologic confirmation. We investigated whether there is any difference regarding these parameters in patients with positive microbiologic results. Results: A total of 163 patients diagnosed with TB and CAP were included in this study. The WBC, neutrophil and monocyte counts, NLR, MLR, NMLR, mean platelet volume (MPV), and C-reactive protein (CRP) values were higher in CAP. There was statistical significance among serum sodium and phosphorus (P) levels between the 2 groups. Microbiologic confirmation was determined in 37 (35.5%) patients with the diagnosis of TB. The NLR, MLR, NMLR, CRP, and P values were significantly higher in patients with microbiologic confirmation. Conclusion: The results of the present study suggest that complete blood count parameters, NLR, MLR, NMLR, and CRP can be useful and cost-effective markers in differentiating pulmonary TB from CAP in the early stages of diagnosis. [ABSTRACT FROM AUTHOR]

Visceral leishmaniasis (VL) is an opportunistic infectious disease in people living with HIV. We report VL's diagnosis and treatment process in a patient admitted to the hospital due to high fever during the first week of antiretroviral therapy. Leishmania indirect fluorescent antibody test titers were positive, and amastigotes were observed in the biopsy specimen. The patient's condition improved following liposomal amphotericin B (LA-B) treatment. VL is endemic in Türkiye, and there is also an increase in HIV-positive cases. VL should be included in the differential diagnosis in HIV-positive cases alongside other opportunistic infections. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Advanced Research in Health Sciences (JARHS) / Sağlık Bilimlerinde İleri Araştırmalar Dergisi (SABİAD) is the property of Journal of Advanced Research in Health Sciences (JARHS) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Differential diagnosis is important for clinical management of cases with thyroid diseases. We aimed to find the most useful diagnostic panel including immunohistochemistry markers and BRAF 600E mutation for papillary thyroid carcinoma. The study included 99 papillary thyroid carcinoma, 95 benign thyroid disease and 6 well differentiated tumour of uncertain malignant potential cases. Three groups were compared for immunohistochemistry marker expressions (CK19, Gal-3, HBME-1, p63, CD56). Diagnostic contribution of BRAF V600E mutation and its relationship with the immunohistochemistry and prognostic parameters were evaluated. CK19, Gal-3, HBME-1 and p63 positivity and loss of CD56 expression were significantly higher in papillary thyroid carcinoma than in benign thyroid disease. Gal-3 was the most useful marker to differentiate both papillary thyroid carcinoma and well-differentiated tumour of uncertain malignant potential cases from benign thyroid disease. CK19&HBME-1 and CK19&-Gal-3 dual panels had the highest sensitivities and high specificities for distinguishing papillary thyroid carcinoma from benign thyroid disease. Moreover, CK19&Gal-3 dual panel had the highest sensitivity and specificity to distinguish well-differentiated tumour of uncertain malignant potential from benign thyroid disease. In addition, CK19&Gal-3&HBME-1 was the most sensitive triple panel in differentiating both papillary thyroid carcinoma and well-differentiated tumour of uncertain malignant potential cases from benign thyroid disease. When combined with immunohistochemistry markers, the BRAF V600E reduced sensitivities and increased specificities towards malignancy, and it was not associated with prognostic parameters except for histological subtypes. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study is to evaluate the demographic and clinical features of syphilis patients followed up in a tertiary referral hospital, and thus to provide current contributions to epidemiological data related to syphilis. Material and Methods: The demographic characteristics, clinical and laboratory findings, and treatments received of all patients diagnosed with syphilis and followed up in our clinic between January 2019 and June 2023 were evaluated retrospectively. Results: We included a total of 118 patients, 24 women and 94 men. The average age of the patients was 36.56±5.1 years. Fortyone of the patients (34.7%) were married, 56 were single (47.4%) and the marital status of 21 (17.8%) was unknown. Sixty-two of the patients (52.5%) had primary syphilis, 29 (24.6%) had secondary syphilis and 27 (22.9%) had latent syphilis. When the patients' admission symptoms were evaluated, genital chancre was found in 58 (49.1%), roseola syphilitica in 24 (20.3%), mucous plaque in 11 (9.3%), condyloma lata in 7 (5.9%) and syphilis papulosa psoriasiformis in 3 (2.5%) patients. Twenty-five patients (21.1%) were asymptomatic. Transmission from spouse was in 14 (11.9%) patients while suspicious sexual contact was in 77 (65.3%) patients. The source of transmission was unknown in 27 (22.9%) patients. Response to treatment was obtained in all of the patients who were not lost to follow up. Twenty-two of the patients (18.64%) were HIV positive. Conclusion: Rising syphilis incidence which is observed globally in the recent years indicates the need to raise the level of public awareness about the disease and its transmission routes. In addition, since it can mimic many diseases, it should always be considered in the differential diagnosis, especially in patients with a history of suspicious sexual contact. It is necessary to investigate other sexually transmitted diseases, especially HIV, in patients diagnosed with syphilis. [ABSTRACT FROM AUTHOR]

Background/Aim: The differential diagnosis of solitary brain tumors poses challenges for clinicians and radiologists, often leading to invasive biopsy procedures. Therefore, this study aimed to evaluate the variations in edema volume and diffusion characteristics between the tumor core and peritumoral zone in cases of glioblastoma, brain metastasis, and central nervous system lymphoma. The aim was to identify additional parameters for conventional magnetic resonance imaging (MRI) that could aid in the differential diagnosis. Methods: A total of 39 patients (13 with central nervous system lymphoma, 13 with glioblastoma, and 13 with brain metastases) were included in this retrospective cohort study. Apparent diffusion coefficient (ADC) values were calculated from the ADC maps obtained from Brain MRI for both the lesion and peritumoral region. Additionally, the largest diameter of the vasogenic edema-mass complex was measured using T2 sequences. In the contrast-enhanced series, the largest diameter of the metastatic lesion was measured. The edema-mass ratio was determined by dividing the diameter of the edema-mass complex by the diameter of the mass. Results: There was a statistically significant difference in the edema-mass ratio among the tumor types (P=0.008). Further analysis using Bonferroni correction revealed that this difference was primarily due to glioblastoma. Compared to patients with lymphoma and brain metastases, lesions diagnosed as glioblastoma exhibited a lower edema-mass ratio. Additionally, a statistically significant difference was observed in the ADC value measured from the lesion according to the tumor type (P=0.017). It was determined that lesions associated with central nervous system lymphoma had lower ADC values than those with glioblastoma. Conclusion: Including lesional and perilesional ADC values obtained through diffusion-weighted examination and edema mass ratio measurements may enhance the accuracy of differential diagnosis. Utilizing these imaging characteristics in a multiparametric approach, as suggested by this research, can improve the accuracy of diagnosing malignant cancers, thereby enabling better patient management and treatment decisions. [ABSTRACT FROM AUTHOR]

Objective: Pulmonary placental transmogrification (PT) is a benign lesion curable by resection, represented by an unusual peculiar morphological variation including placentoid bullous change in the pulmonary hamartoma. In this retrospective study, we aimed to examine the histopathological features of pulmonary hamartomas in lung, to evaluate the different histological components, especially PT, and to investigate importance of PT pattern and its relationship with other clinicopathological features. Methods: Thirty-five cases of pulmonary hamartomas were recruited from the records between 2001 and 2021, divided into two groups according to presence of PT, as PT (-) and PT (+) in pathological examination. Results: 77.1% of all patients were male. There was no significant difference between the two groups in terms of age, sex, comorbidity, presence of symptoms, tumor localization, and radiological findings (P > 0.05). Pulmonary hamartomas were resected totally from 28 patients (80%). Five of these patients (17.9%) had PT components in resection materials with varying degree between 5 and 80%, and all were from male patients. Examination with frozen sections were performed in 15 PT (-) and 5 PT (+) patients but diagnosis with frozen sections was not achieved in any of PT (+) patients. Most of materials included chondroid components (52.22 ± 29.7%) in both groups (P < 0.05). Conclusion: The placental papillary projections are available patterns associated with a pulmonary hamartoma and these projections observed especially in frozen sections are very crucial to recognize PT pattern in hamartomas, as they can result in confusions in differential diagnosis of malignities. [ABSTRACT FROM AUTHOR]

Objective: Extrapulmonary tuberculosis (EPTB) can be easily missed due to challenges in diagnosis or overlooked in the differential diagnosis. Therefore, EPTB should be considered in endemic regions, especially in the differential diagnosis of fever of unknown origin. Methods: Adult patients diagnosed and treated for EPTB at Ondokuz Mayıs University School of Medicine Hospital between 2005 and 2018 were analyzed retrospectively. Results: One hundred and nineteen patients with a mean age of 48.4±17.8 years, including 75 (63%) females and 44 (37%) males, were included in the study. The mean age of female patients was 51.8±16.7, and the mean age of male patients was 42.6±18.4. Female patients were significantly older than male patients (p<0.05). Urban and rural residency rates were 45.4 and 40%, respectively. EPTB involved lymph nodes in 60 (50.4%), the central nervous system in 15 (12.6%), the vertebral column in 14 (11.8%), bone in 7 (5.9%), the urogenital system in 7 (5.9%), peritoneum in 6 (5%), the gastrointestinal system in 6 (5%), pleura in 3 (2.5%) and eye in 1 (0.8%) patient. Acid-fast bacilli were seen in 4 (8.1%) of 49 samples; Mycobacterium tuberculosis grew in cultures of 29 (48.3%) of 60 samples; and the polymerase chain reaction was positive for tuberculosis in 24 (52%) of 46 samples. In the histopathologic examination, caseous granulomatous inflammation was the most reported finding (41.2%). The most common adverse event related to antituberculosis drugs was hepatotoxicity. Conclusion: EPTB can involve various organ systems and should be included in the differential diagnosis. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: While cytomegalovirus (CMV) infection usually causes disease in immunosuppressed individuals, it mostly progresses as an asymptomatic infection in healthy adults. However, very rarely, immunocompetent individuals may also suffer from encephalitis and stroke. Methods: Nine patients who were admitted to the Neurology Clinic of Abant Izzet Baysal University Faculty of Medicine from 2016 to 2020 who had various neurological symptoms and were diagnosed with CMV infection were retrospectively analyzed. Symptoms, examination findings, laboratory results, radiologic imaging, and treatments were recorded and evaluated. Results: Although severe infections because of CMV generally occur in newborns and immunosuppressed adults, it is estimated that the disease is more common in immunocompetent adults than known. This may be associated with unrecognized risks, in part because of immune dysfunction or comorbidities such as renal failure or diabetes mellitus. Also, CMV replication in arterial endothelial cells can restrict blood flow, inducing an atherosclerotic environment and causing stroke. Diagnosis is based on clinical suspicion and serology. Ganciclovir is administered for treatment. Conclusion: CMV infection should be considered in the differential diagnosis of patients presenting with neurological symptoms, even among immunocompetent individuals, because of the high possibility that patients can greatly benefit from antiviral treatment at the early stage. [ABSTRACT FROM AUTHOR]

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated insulin-like growth factor 1 levels, and is characterised by somatic overgrowth and physical disfigurement, notably affecting hands and feet. We present two cases referred with an initial diagnosis of acromegaly that were ultimately diagnosed as PDP. Case 1: A 17 year-old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening of facial skin lines and forehead skin, and excessive sweating which increased gradually over five years. There were prominent skin folds on the forehead, face, and eyelids. Also, there was an enlargement in both hands and clubbing of the fingers. There was marked swelling in the knee joints and ankles. Genetic analysis revealed a novel homozygous variant NM_005630: c.31C>T (p.Q11*) in the SLCO2A1 gene. Case 2: A 16 year-old boy presented with coarsening of forehead skin and scalp, excessive sweating, and pain in the elbow and knee over three years. Skin folds were prominent on the forehead and scalp. Genetic analysis revealed a homozygous variant NM_005630.2:c.86delG (p.G29Afs*48) in the SLCO2A1 gene. Such clinical presentation contemporaneous with normal GH level and prominent radiological abnormalities prompted the diagnosis of PDP. In conclusion, PDP is a very rare osteoarthrodermopathic disorder with clinical and radiographic presentation that may mimic acromegaly. In the evaluation of patients with acromegaloid appearance, PDP should be considered as a differential diagnosis. [ABSTRACT FROM AUTHOR]

Aim: Lipomas are benign tumors, and generally present as small lesions. However, giant lipomas are less frequent. There are only a few studies regarding the surgical treatment of giant lipomas. Marginal or wide resection is usually performed; however, there is no standard surgical approach. The aim of this study was to evaluate clinical results after surgical treatment of giant lipomas and to present a differential diagnosis of lipomatous lesions. Material and Methods: A total of 42 cases (24 female, 18 male) admitted to our clinic between 2015 and 2020 due to giant lipoma with at least 10 cm dimensions were included in this study. A preoperative biopsy was performed for all cases. All patients were undergone wide excision followed by postoperative histopathological examination. Results: The mean age was 57.5±12.9 years. The median follow-up was 35 months. Anatomic localization was thigh in 16 (38.1%) patients, shoulder in 7 (16.7%) patients, hip in 5 (11.9%) patients, back in 4 (9.5%) patients, arm in 9 (21.4%) patients, and the iliac region in 1 (2.4%) patient. Wide resection was performed, and final pathology was consistent with lipoma in all cases. There was no complication except in one patient who had transient neuropraxia after removing a giant lipoma at the proximal femur. At the latest follow-up, all cases were asymptomatic with no recurrence. Conclusion: Preoperative biopsy and wide resection should be preferred for the diagnosis and treatment of giant lipomas. Wide resection may prevent a recurrence. Routine follow-up is necessary to detect possible malign transformation. [ABSTRACT FROM AUTHOR]

Objective: Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome. Materials and Methods: Patients who were admitted to the pediatric gastroenterology clinic and who were considered to have Gilbert syndrome based on clinical and laboratory findings were included in the study. The UGT1A1 analysis was performed by Sanger sequence analysis. What this study adds on this topic? This study is important due to the limited Gilbertsyndrome(GS) data in children in Turkey. A mild bilirubin elevation can be observed in the cases with 6 TA repetitions that were considered non-risky in terms of GS. We suggested that the variant [c.880_893delinsA (p.Tyr294MetfsTer69)] was causing partial enzyme deficiency leading to the GS phenotype. Results: A total of 56 children were included in the study. A(TA)7TAA, A(TA)6TAA, and (TA)6/7 allele promoter polymorphism was detected in 75.5%, 22.5%, and 2% of the patients, respectively. Other than these, in 3 patients, 3 different sequence variants associated with GS [c.880_893delinsA (p.Tyr294MetfsTer69) and c.1091C>T(p.Pro365Leu)] were detected. Conclusion: We detected 7 TA repeats in the majority of our patients. A mild bilirubin elevation was determined in cases with 6 repetitions that were not considered risky for Gilbert syndrome. We concluded that the c.880_893delinsA (p.Tyr294MetfsTer69) variant, previously shown to be associated with Crigler-Najjar syndrome type I, may also be associated with partial enzyme deficiency leading to the Gilbert syndrome phenotype. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Although basal cell carcinoma (BCC) is prevalent in the older population, it can be rarely seen in younger people. This study aims to investigate the risk factors and characteristics of BCC in young patients. METHODS: Pathology reports in a single tertiary care institution between 2010 and 2020 were retrospectively reviewed. Patients under the age of 35 who were diagnosed with BCC were included for the analysis. Data were gathered from medical records and pathology reports. Demographic characteristics, accompanying pathologies, and clinical findings of these patients were analyzed. RESULTS: There were a total of 32 patients in our cohort. Out of 32 patients, 20 were female and 12 were male. One male patient and five female patients were younger than 18. An accompanying risk factor (Gorlin syndrome, XP, renal transplantation, etc.) was present in six patients. There were no known additional diseases or risk factors in 26 patients. Metastasis and recurrence were not reported in any of our patients. Contrary to the information in the literature, the patients with BCC at a young age were not found more aggressive in our study. CONCLUSION: Contrary to the information in the literature, the patients with BCC at a young age were not found more aggressive in our study. Understanding the risk factors associated with BCC is essential for designing prevention strategies and favoring early diagnosis. Awareness of early-onset BCC aids in early diagnosis and treatment of the disease. Therefore, BCC should be in the differential diagnosis of skin lesions in the young population. In addition, when we encounter early-onset BCC, we should not forget the accompanying risk factors and syndromes. [ABSTRACT FROM AUTHOR]

Objective: Omalizumab safety studies have shown that the drug has an excellent safety profile and is well tolerated in patients with asthma and chronic idiopatic urticaria (CIU) with no blood chemistry monitoring during treatment. Although our clinical experience with drug has pointed out abnormalities in amylase levels. The aim of the present study is to assess blood amylase values during omalizumab therapy and to explain if there is an association between omalizumab therapy and high serum amylase levels. Materials and Methods: Patients who received omalizumab therapy for severe persistent allergic asthma or CIU between November 2015 and December 2016 were included in the study. Complete blood counts and biochemistry including liver function tests, amylase, pancreatic amylase, and lipase blood levels were evaluated at basal and every visit before omalizumab administration. Patients were evaluated at the time of injection visits that were scheduled every 2 to 4 weeks based on omalizumab dosage. Laboratory assessments followed up at least 1 month to one year. Patients that developed persistent hyperamylasemia carried on with further diagnostic work-up. Results: Of the total 76 patients, 59 (77.6%) had a diagnosis of CIU and 17 (22.4%) had severe persistent allergic asthma. The median cumulative dose of omalizumab was 4350 (range 900-36000) mg. In the follow-up period, at least one high amylase level was observed in 17 (22.4%) patients. Of these, 11 patients had transient amylase elevation, which returned to the normal range during follow-up. The remaining 6 patients had persistent amylase elevation and underwent further diagnostic examinations. Macroamylasemia was considered as a differential diagnosis and one patient had laboratory tests for macroamylasemia but the results were found within normal limits. There was no statistically significant difference between patients with transient and persistent amylase elevation compared with patients with normal amylase levels in terms of disease, duration of disease, duration of treatment, omalizumab cumulative dose, age, body mass index, and alcohol consumption. Conclusion: Hyperamylasemia associated with omalizumab therapy is not clear, on the other hand it is a diagnosis of exclusion and all other probable causes of hyperamylasemia were sufficiently excluded. Physicians should be aware of elevated amylase levels in patients treated with omalizumab. To preclude confusion on hyperamylasemia in patients who receive omalizumab, we recommend assessing baseline levels of amylase to clarify if omalizumab causes hyperamylasemia in the treatment period. [ABSTRACT FROM AUTHOR]

Introduction: We have tried to define any criteria between under active bladder (UB) and bladder outlet obstruction (BO) from voiding efficiency (VE) without using pressure flow studies. Material and methods: In male patients uroflowmetry data, post-void residual (PVR) urine data and subsequent pressure flow studies (PFS) were examined retrospectively. Bladder outlet obstruction index (BOI) and bladder contractility index (BCI) were calculated using patients’ PFS values. Patients with BCI < 100 and BOI < 20 were grouped as the UB group and BCI > 100 and BOI > 40 with obstruction were grouped as the BO group. Results: Forty-four patients in UB and 49 in BO groups, totally 93 patients were examined. According to Qmax value there is no statistically significant difference between the two groups (p = 0.38). Average VE was 63.6 ±2.43% and 46.2 ±2.63% for UB and BO groups, respectively, and the difference was statistically significant (p < 0.001). UB can be diagnosed with at least 95% sensitivity and 88% specificity in men. Conclusions: Non-invasive uroflowmetry and VE measurements were also shown to differentiate between UB and BO patients, presenting with identical clinic data, besides PFS. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Physical Medicine & Rehabilitation Sciences is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: The aims of this study were to describe the clinical features, comorbidities and outcome of systemic childhood polyarteritis nodosa (PAN) and to evaluate PAN-like diseases in differential diagnosis. Methods: The study group consisted of patients who were diagnosed as PAN in a referral center in Turkey. The files of all patients were reviewed retrospectively. Disease activity was evaluated with pediatric vasculitis activity score (PVAS). Results: A total of 19 (13 boys/six girls) patients were enrolled in the study. The mean age of patients was 10.37 ± 3.6 years. The mean duration of follow-up was 5.73 ± 3.74 years. Eight patients (42.1%) were also diagnosed with familial Mediterranean fever (FMF). The cutaneous involvement was higher in patients with PAN than those with FMF-associated PAN (p¼.03). The median (min-max) PVAS at diagnosis was 5 (3-7). There was no correlation between PVAS scores at the time of diagnosis and age, clinical findings and relapse. CECR1 mutation was detected in one patient leading to deficiency of adenosine deaminase 2. Conclusion: The clinical presentation is variable in children with PAN. PAN-like diseases characterized by necrotizing vasculitis should be considered. The possibility of FMF should be kept in mind if inflammation cannot be controlled. [ABSTRACT FROM AUTHOR]

Background: Appendix tumors are rare tumors found in the gastrointestinal tract, observed at a rate of about 0.2%-0.3%. Our aim in this study was to present the clinicopathological classification, treatment and long-term prognosis of patients with low grade appendiceal mucinous neoplasm (LAMN) Methods: Patients who underwent surgery in the Erciyes University Department of (Kayseri, Turkey), Department of General Surgery between December 2010 and December 2018, and who had LAMN as a result of pathology were included in our study. Demographic data, clinical and pathological features of the disease, their treatment and follow-up results after treatment were reviewed retrospectively. Results: We included 24 patients in the study. Of these patients, 10 (41.6%) were male. The mean age distribution was 56.4 ± 20.3 (21-91) years. Appendectomy was performed in 14 patients, and additional organ resections were performed in 8 patients. The most common symptom at the time of presentation was abdominal pain (79.1%; 95% CI, 58.3-91.7). The most common preliminary diagnosis in the preoperative period was acute appendicitis (50%; 95% CI, 29.2-70.8). Mean postoperative hospitalization time was 7.4 ± 7.96 (2-31) days. On pathological examination, appendectomy resection margins were positive in two patients. The mean (median) postoperative follow-up was 31.25 ± 23.9 (27) (1-90) months. One-year survival was 91.6%, and 5-year survival was 83.3%. Recurrence was detected in three patients during the follow-up period. Conclusion: If appendix mucinous neoplasia (AMN) is suspected in patients undergoing surgery with an initial diagnosis of acute or plastron appendicitis, care should be taken to remove the lesion without perforation. Pseudomyxoma peritonei, which may develop as a result of perforation, is associated with recurrence and decreased survival. [ABSTRACT FROM AUTHOR]

Coronavirus disease-2019 (COVID-19) has infected more than 100 million people globally, with the pandemic still showing a quick increase in number. We reported five new cases in Turkey, where subacute thyroiditis was developed after the COVID-19 infection. Our study included three females and two male patients aged between 27 and 51 with a mean age of 39. Out of the five, four patients had a mild COVID-19 infection, and one patient had mild COVID-19 pneumonia. After 18-25 days of the disappearance of COVID-19 symptoms, subacute thyroiditis was developed in patients. Laboratory tests such as thyroid hormones and, especially, free thyroxin showed high levels while the thyroid-stimulating hormone was found to be low. The thyroid-stimulating hormone receptor antibody, anti-thyroid peroxidase, and anti-thyroglobulin antibodies were negative in all patients while the inflammatory markers were high. Thyroid ultrasound showed diffuse hypoechoic areas and diffused enlargement. There was no iodine uptake observed in the thyroid scintigraphy. The patients were diagnosed with subacute thyroiditis and prescribed oral prednisolone therapy. After a few days of starting the treatment, symptoms disappeared in all patients, and after four weeks of the onset of subacute thyroiditis symptoms, inflammatory markers turned to normal range in all patients. Therefore, physicians should consider subacute thyroiditis in the differential diagnosis of thyroid dysfunction during and after COVID-19 infection. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to observe the preventive effect of prophylactic treatment on joint health in people with hemophilia (PwH) and to investigate the importance of integration of ultrasonographic examination into clinical and radiological evaluation of the joints. Materials and Methods: This national, multicenter, prospective, observational study included male patients aged ≥6 years with the diagnosis of moderate or severe hemophilia A or B from 8 centers across Turkey between January 2017 and March 2019. Patients were followed for 1 year with 5 visits (baseline and 3rd, 6th, 9th, and 12th month visits). The Hemophilia Joint Health Score (HJHS) was used for physical examination of joints, the Pettersson scoring system was used for radiological assessment, point-of-care (POC) ultrasonography was used for bilateral examinations of joints, and the Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score was used for evaluation of ultrasonography results. Results: Seventy-three PwH, of whom 62 had hemophilia A and 11 had hemophilia B, were included and 24.7% had target joints at baseline. The HJHS and HEAD-US scores were significantly increased at the 12th month in all patients. These scores were also higher in the hemophilia A subgroup than the hemophilia B subgroup. However, in the childhood group, the increment of scores was not significant. The HEAD-US total score was significantly correlated with both the HJHS total score and Pettersson total score at baseline and at the 12th month. Conclusion: The HEAD-US and HJHS scoring systems are valuable tools during follow-up examinations of PwH and they complement each other. We suggest that POC ultrasonographic evaluation and the HEAD-US scoring system may be integrated into differential diagnosis of bleeding and long-term monitoring for joint health as a routine procedure. [ABSTRACT FROM AUTHOR]

Bartonella henselae is the causative agent of cat scratch disease (CSD). In this study, we aimed to investigate the clinical data of patients with suspicion of CSD and delineate current epidemiological features. A total of 785 patients with suspected CSD were included in the study. B. henselae IgM antibody was determined by indirect fluorescent antibody (IFA) test using a commercial kit (Euroimmun, Germany). Sex, age, clinical pre-diagnosis and animal contact information of the patients were obtained from hospital electronic database records. Seventy-eight (9.9%) of 785 samples were seropositive. Out of 78 patients, 46 with animal contact data were further analyzed. Of these patients, 56% were male, and 41% were under 18 years of age. Seropositivity was more commonly observed in fall and winter. The most common finding was lymphadenitis (63%). Thirty-five patients (76%) had a previous history of animal contact (cat/dog). Of the 46 seropositive patients, 78.3, 15.2, 4.4, and 2.1% had titers of 1:80, 1:160, 1:320, and 1:640, respectively. Our study confirms that CSD is not rare in Turkey. Thus, it should always be considered in the differential diagnosis of patients presenting with lymphadenopathy in all age groups, particularly children. Questioning of cat exposure should never be neglected, especially in areas with intense population of stray cats, such as Istanbul. [ABSTRACT FROM AUTHOR]

Lemierre's syndrome, which is commonly observed in healthy adolescents and young adults, is characterized by septic thrombophlebitis of the internal jugular vein and is usually observed after an oropharyngeal infection. At the time of the pandemic, as a result of so many patients COVID-19, similar symptoms were initially diagnosed as a possible coronavirus case and followed up with a possible diagnosis of COVID-19 before being consulted. We present the case of a 23-year-old male patient, who was referred to our clinic with complaints of fever, sore throat, dysphagia, shortness of breath, and chest pain. A retropharyngeal and mediastinal abscess occurred after these symptoms were successfully treated with surgical and medical interventions. The patient was initially considered a potential case of COVID-19 and followed as such. COVID-19 was then excluded, and the patient was reported to have an abscess extending from the retropharyngeal area to the mediastinum. We aim to present the diagnosis and treatment of Lemierre's syndrome based on a literature review. [ABSTRACT FROM AUTHOR]

Aim: Dermatological diseases of the feet may be hereditary, inflammatory, infectious or malignant. The patients may be primarily evaluated by general surgeons, orthopedists, primary care physicians and podiatrists. Moreover, foot health centers are becoming increasingly popular. Therefore, we aimed to determine the most common skin disorders affecting the feet to guide the physicians in managing of skin-related foot disorders. Material and Methods: Between March 2017 and March 2019, 634 patients (55.5% female, 44.5% male) with skin disorders affecting feet were included in this study. The patients were evaluated in three groups according to the age including younger than 18, between the age of 18-65, and older than 65. Results: The most common disease group and skin disease observed in all patients were infections 272 (42.9%) and onychomycosis 106 (16.7%), respectively. Onychomycosis was followed by ingrown nail 67 (10.6%), tinea pedis 56 (8.8%) and warts 53 (8.4%). The most common disease group and skin disease were infections 18 (34.6%) and ingrown nail 17 (32.7%) in patients younger than 18, and infections 199 (45%) and onychomycosis 76 (17.2%) in patients aged 18-65. Similarly, infections 55 (39.3%) and onychomycosis 27 (19.3%) were the most common disorders observed in patients older than 65. Conclusion: This study revealed that the most common skin diseases affecting feet were onychomycosis, ingrown nail, tinea pedis and warts. However, frequency of these disorders varied depending on age. These results will guide the physicians in making diagnosis, differential diagnosis or referring the patients to a specialist when needed. [ABSTRACT FROM AUTHOR]

Objective: To explore the value of complete blood count (CBC), including neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), and monocyte lymphocyte ratio (MLR) in diagnosis of testicular torsion (TT) and differential diagnosis from epididymo-orchitis. Methods: The study was conducted at the Antalya Training and Research Hospital Emergency Department in Turkey with acute scrotal pain patients from January 1st, 2016 to January 1st, 2018. The patients were categorized into 3 groups: the TT group who underwent an operation for TT (n=70), the epididymo-orchitis group who received epididymo-orchitis treatment (n=120), and the healthy control group (n=100). NLR, PLR, and MLR of the three groups were analysed and compared. The optimum cut-off values of NLR, MLR, and PLR were analyzed. Results: Mean NLR and MLR values were significantly higher in the epididymo-orchitis group and the TT group compared to the control group (P<0.001). Receiver operating characteristic analysis revealed a sensitivity of 77.1% and a specificity of 80% for NLR (77.1) and a sensitivity of 68.2% and a specificity of 78% for PLR (124.80). Moreover, when MLR was used to differentiate the two treatment groups, the optimal cut-off value had a sensitivity of 67.1% and a specificity of 75% (AUC: 0.677-0.826, P<0.001). Conclusions: NLR, PLR, and MLR might be associated with the diagnosis of TT. These parameters provide a useful and economical method to help diagnose TT in the emergency department. [ABSTRACT FROM AUTHOR]

Aim: To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. Method: We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) between July 2018 and February 2019. Results: Twenty-two patients were evaluated. Ten of 22 (45%) presented with acute paralysis and 12 of 22 (55%) with brainstem symptoms only. Reverse transcription polymerase chain reaction for enterovirus was positive in 2 patients' respiratory tract. Other etiologic factors were detected in 10 cases. On follow-up, patients presenting with symptoms of myelitis developed motor sequalae although spinal cord lesions on MRI resolved in 5 of 9 (55%). Encephalitic symptoms, present in 17 cases, recovered in 13 (76%), and brain MRI showed complete or near-complete resolution in 11 of 14 (78%). Conclusion: Various etiologic agents can be detected in patients with pontine involvement, even in a series collected during an outbreak of EV-D68. Encephalitis has a fair outcome but clinical recovery is slow and motor sequalae are frequent in spinal involvement, irrespective of follow-up spinal MRI findings. [ABSTRACT FROM AUTHOR]

Background/aim: This retrospective study aimed to investigate the clinical profile of pituitary insufficiency (PI) in adult population. Materials and methods: One hundred and fifty patients who were diagnosed as having PI between 2012 and 2018 (53.3% female, mean age 48.13 ± 15.83 years) were retrospectively analyzed. Results: Age at diagnosis was higher in females as compared with males (51.13 ± 15.95 vs. 44.70 ± 15.08 years, P = 0.012). The most frequent presenting signs were headache (29.4%) and visual disturbance (19.6%) in general. Females frequently presented with headache (33.3%), whereas males presented with sexual dysfunction (34.4%). The most frequent cause of PI was nonfunctional pituitary adenoma (28.8%) in general population. A frequent cause of PI was Sheehan's syndrome (33.8%) among females and nonfunctional pituitary adenoma (38.6%) among males. Pituitary macroadenoma (75.8%) was frequent in pituitary tumors with PI. 55.3 % of the patients had 4 pituitary hormones deficiencies and 26.0% of patients had 3 pituitary hormones deficiencies. Gonadotropin deficiency was the leading pituitary hormone deficiency. The frequency of posttraumatic PI was 4.7% in the general population. Conclusion: Nonfunctional pituitary adenoma was the most common cause of PI among males and Sheehan's syndrome was a major etiologic factor in females. Sheehan's syndrome remains an important health problem in Turkey although obstetric care has improved. Posttraumatic PI should be considered in the differential diagnosis of idiopathic PI. [ABSTRACT FROM AUTHOR]

Background and Purpose: This study aimed to assess the sensitivity and specificity of brain stem morphologic changes to differentiate the progressive supranuclear palsy (PSP) from Parkinson disease (PD) and multiple system atrophy (MSA), by single and combined magnetic resonance imaging (MRI) measurements. Materials and Methods: Peduncle angle (PA), pons area (P), mesencephalon area (M), middle cerebellar peduncles (MCPs), and superior cerebellar peduncles (SCPs) were measured in 14 PSP, 43 PD, 8 MSA patients, and 45 age-matched control participants on T1-weighted MRI. Neurologists clinically diagnosed all patients. Additionally, P/M ratio, MCPs/SCPs ratio, the previously defined Magnetic Resonance Parkinsonism Index, MRPI: (P/M) · (MCP/SCP), and also the Akdeniz Index (AKI) that we termed were calculated, AKI: (P/M) · (PA/180). Two blinded radiologists evaluated all MR images and inter-/intraobserver variations were measured. Results: Both M and SCPs were significantly lower and P/M, MCPs/SCPs, and PA were significantly higher in PSP patients than the other groups (P <.001). This significance was related to patients with PSP and PD. But all single measurements showed some overlapping values. Therefore, previously defined MRPI was calculated and shown to distinguish patients (negative predictive values: 92%, sensitivity: 78%, specificity: 82%). In this study, interobserver correlation (0.68) was found low for MRPI. Therefore, we identified a more practical index: the Akdeniz Index, which has same diagnostic power with MRPI and higher interobserver correlation (0.91). Conclusion: The Akdeniz Index identified in our study is a practical index with high diagnostic power and can reinforce radiological distinguishing of PSP and PD, which are clinically difficult to distinguish. [ABSTRACT FROM AUTHOR]

Purpose: To develop a practical scoring system to assist clinicians in differentiating leptospirosis and hantavirus infections, whose epidemiological, clinical, and laboratory characteristics are literally like identical twins. Methods: The study population consisted of 162 patients admitted to hospital with a confirmed diagnosis of leptospirosis (LG group, n = 92) and hantavirus infections (HG, group = 70) between January 2000 and January 2019. The two groups were compared in terms of demographic, clinical and laboratory features. Sensitivity, specificity, and positive and negative predictive values were determined from ROC analysis for findings of significance in the diagnosis of leptospirosis, and a scoring system for diagnosis was developed ("MICE" score). During the development of this scoring system, we were careful to employ parameters that would not affect one another statistically, to reflect the involvement of very different systems (such as the hematological, hepatic, renal, and musculoskeletal systems) due to the multisystemic effect of the disease in the organism, and to ensure that the system should be simple to apply and understand. Accordingly, five parameters, serum WBC, creatinine, creatine kinase, total bilirubin, and C-reactive protein, were employed in the "MICE" scoring system. Results: Three cut-off values were determined using ROC analysis for the five parameters included in the MICE system. Accordingly, scores of 0, 1, or 2 were given based on the values WBC (/μL): ≤ 7500, 7500–15,000, and > 15,000; total bilirubin (mg/dL): ≤ 3, 3–10, and > 10; CRP (mg/dL): ≤ 5, 5–15, and > 15; creatinine (mg/dL): ≤ 1.5, 1.5–3, and > 3; CK (U/L): ≤ 500, 500–1000, > 1000. AUC was calculated as 0.964 at ROC analysis, while the most noteworthy cut-off point was obtained when MICE score was ≥ 3, exhibiting 93.5% sensitivity, 92.9% specificity, PPV 94.5% and NPV 91.5%. A test score ≥ 3 was regarded as positive. In addition, our patients were evaluated using other current scoring systems in addition to "MICE," and our scoring system exhibited a greater diagnostic power in our subjects. Conclusions: Leptospirosis and hantavirus infections can be accurately predicted by the MICE scoring system. Early diagnosis and rational treatment will also help to lower the mortality rates in these diseases. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to assess the prevalence of generalized joint hypermobility (GJH) in school children in relation to scoliosis and to identify musculoskeletal problems. Patients and methods: This cross-sectional study included 822 school children (413 males, 409 females; mean age 12.2±1.3 years; range, 10 and 15 years). Demographic characteristics of all children were recorded. The presence of GJH was assessed by the Beighton score (≥4 was considered joint hypermobility). Scoliosis screening consisted of forward bend test (FBT) and measurement of angle of trunk rotation (ATR). Positive FBT or ATR ≥5° was referred to a portable X-ray device. The presence of musculoskeletal complaints was determined by a questionnaire. Results: Children's body mass index (BMI) was 19.6±4.1. GJH was diagnosed in 151 subjects (18.4%). No significant association was detected between sex and hypermobility. Joint hypermobility was inversely correlated with age and BMI. Scoliosis was found in 43 subjects (5.2%) and all of them except one girl had mild scoliosis. The most common scoliosis pattern was a single left thoracolumbar curve. Seventy-three subjects (8.9%) had Cobb angle under 10°, with a potential for progression. Among subjects having GJH, the most common clinical finding was pes planus (34.3%) and the most common clinical symptom was ankle sprain (31.3%). Conclusion: Similar to that found in children from many countries, GJH is a common clinical condition in Turkish children. GJH should be assessed in the differential diagnosis of adolescents with musculoskeletal complaints for effective treatment and reducing morbidity. GJH should be considered in adolescents with scoliosis, which may be an important aspect in treatment. [ABSTRACT FROM AUTHOR]

Tularemia is a zoonotic disease caused by Francisella tularensis, a highly virulent gram-negative coccobacillus. Oropharyngeal tularemia, one of the clinical subtypes, is the most common clinical form of the disease in Eastern Europe, including Turkey. This clinical form affects mostly the head and neck region and the most common complaints of patients are mass in the neck, sore throat, and fever. This form of tularemia may be confused with tonsillitis, pharyngitis, or cervical lymphadenitis caused by other microbial agents due to the nonspecific clinical and laboratory features. In this study, we present a patient with nasolacrimal duct obstruction and dacryocystitis caused by oropharyngeal tularemia. [ABSTRACT FROM AUTHOR]

Objective: Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities, and also recurrent infections due to immune abnormalities in early infancy. Materials and Methods: Here, we report the clinical and laboratory features of six children with transcobalamin II deficiency who were all molecularly confirmed. Results: The patients were admitted between 1 and 7 months of age with anemia or pancytopenia. Unexpectedly, one patient had a serum vitamin B12 level lower than the normal range and another one had nonsignificantly elevated serum homocysteine levels. Four patients had lymphopenia, four had neutropenia and three also had hypogammaglobulinemia. Suggesting the consideration of transcobalamin II deficiency in the differential diagnosis of immune deficiency. Hemophagocytic lymphohistiocytosis was also detected in one patient. Furthermore, two patients had vacuolization in the myeloid lineage in bone marrow aspiration, which may be an additional finding of transcobalamin II deficiency. The hematological abnormalities in all patients resolved after parenteral cobalamin treatment. In followup, two patients showed neurological impairments such as impaired speech and walking. Among our six patients who were all molecularly confirmed, two had the mutation that was reported in transcobalamin II-deficient patients of Turkish ancestry. Also, a novel TCN2 gene mutation was detected in one of the remaining patients. Conclusion: Transcobalamin II deficiency should be considered in the differential diagnosis of infants with immunological abnormalities as well as cytopenia and neurological dysfunction. Early recognition of this rare condition and initiation of adequate treatment is critical for control of the disease and better prognosis. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 16-year-old boy with recurrent episodes of fever, without any respiratory problems but with concomitant abdominal and sometimes thoracic pain and arthralgia. It mentions that genetic evaluation was performed to identify the molecular cause of Primary ciliary dyskinesia (PCD) as well as Familial Mediterranean fever (FMF). It informs that the patient was treated with colchicine.

SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings. We identified a homozygous variant in SYNE1 (NM_033071.3: c.13086delC; p.His4362GlnfsX2) in all four affected siblings. This variant presented herein has originally been associated with only pure ataxia in a single case. We thus present segregation and phenotypic manifestations of this variant in four affected family members and further extend the pure ataxia phenotype with upper motor neuron involvement and peripheral neuropathy. Our findings in turn established a precise molecular diagnosis in this family, demonstrating the use of WES combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes. [ABSTRACT FROM AUTHOR]

Background: ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. Methods: A total of 146 index patients aged 10-18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation. Results: Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04-19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4-39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117-155) ml/min/1.73m, proteinuria was 1,008 (IQR 281-1,567) mg/m/day. After a median follow-up of 11.5 (range 4-21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175-561] mg/m/day, P=0.025), whereas eGFR was preserved (median 137 [IQR 113-158] ml/min/1.73m, P=0.61). Conclusions: ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective. [ABSTRACT FROM AUTHOR]

Background: Bilateral Acute Depigmentation of the Iris (BADI) is a condition which was first described in a case series from Turkey by Tugal-Tutkin and Urgancioglu in (Graefes Arch Clin Exp Ophthalmol 244:742-6, 2006). The condition is characterized by bilateral acute depigmentation and discoloration of the iris stroma, pigment dispersion, and deposition of pigment in the angle. In our case we report a patient who developed BADI after receiving pitcher plant extract injections for chronic migraine, while her identical twin sister has normal iris architecture and pigmentation and never received any pitcher plant injections.Case Presentation: Patient is a 41-year-old female with history of pitcher plant extract injections to her face for chronic migraine, who later developed bilateral depigmentation of the iris. She did not have any signs of anterior segment uveitis or iridocyclitis. She has an identical twin sister who maintained normal iris pigmentation during the entire course.Conclusions: Bilateral Acute depigmentation of the is a recently discovered condition described in the literature in Turkish patients (Tugal-Tutkun and Urgancioglu, Graefes Arch Clin Exp Ophthalmol 244:742-6, 2006; Tugal-Tutkun et al., Ophthalmology 116(8):1552-7, 2009). This condition affects mainly young females and is characterized by acute bilateral stromal depigmentation, without other pathologic ocular findings. These patients usually maintain normal vision and do not develop significant glaucoma from pigment collecting in the anterior chamber angle. This condition can be mistaken for Fuchs' heterochromic iridocyclitis, pigment dispersion syndrome, pseudoexfoliation syndrome, and viral iridocyclitis. This is the first reported case in North America and is important for differentiation from the above pathologies. Our patient had a history of pitcher plant extract injections to the face but it is unclear if this is associated with our patient's development of BADI. As awareness of this condition progresses, a possible etiology may be elucidated. [ABSTRACT FROM AUTHOR]

Background Vascular rings may cause pressure on the trachea and/or esophagus of varying degree, resulting in symptoms. This study assessed the presentation symptoms, diagnostic methods and treatment results after surgery in children with vascular ring. Methods Symptomatic vascular ring patients undergoing surgery between January 2010 and August 2014 at Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Istanbul, were retrospectively assessed. The presentation symptoms, demographic characteristics, and diagnostic tests were evaluated. Operative data and postoperative follow up, complications and problems were also examined in detail. Results Twenty-one patients underwent surgery, 13 (63%) of whom were male. Median age was 12 months (range, 1 month-8 years). Among these patients, 62% ( n = 13) had double aortic arch, 24% ( n = 5) had right-sided aortic arch + ligamentum arteriosum, 10% ( n = 2) had left-sided aortic arch + aberrant right subclavian artery, and 4% ( n = 1) had pulmonary sling abnormality. Computed tomography ( CT) angiography was performed in 17/21 patients. All the patients were successfully operated on. In the early postoperative period, two patients had chylothorax and one had nerve paralysis of nervus laryngeus recurrens. One patient died in the early period, and two patients had ongoing stridor on follow up. Conclusions CT angiography is effective for the differential diagnosis and visualization of vascular ring abnormality. In such cases, full recovery can be assured with early diagnosis and surgery. [ABSTRACT FROM AUTHOR]

Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal/cardiac complications. LS should be considered in the differential diagnosis of HT in children with a strong family history of HT resistant to conventional treatment; and genetic screening should be performed in these circumstances. [ABSTRACT FROM AUTHOR]

A clinical quiz about the cause of chronic tubulointerstitial nephritis in pediatric patients is presented.