Canan Çelebi

A subset of genetic conditions, particularly skeletal dysplasias, comprises a heterogeneous group of inherited disorders characterized by abnormal bone development, joint stiffness, and short stature. Their musculoskeletal manifestations frequently mimic those of rheumatic diseases, especially Juvenile Idiopathic Arthritis (JIA), complicating accurate diagnosis. We conducted a comprehensive clinical, radiological, and molecular evaluation of 47 individuals (23 males, 24 females) from 22 distinct families who presented primarily with non‐inflammatory musculoskeletal complaints. Genomic investigations included targeted next‐generation sequencing panels, chromosomal microarray analysis, and multiplex ligation‐dependent probe amplification. Pathogenic or likely pathogenic variants were identified in all cases, establishing the following diagnoses: Hereditary Multiple Exostoses (n = 9), Camptodactyly‐Arthropathy‐Coxa Vara‐Pericarditis syndrome (n = 12), Progressive Pseudorheumatoid Dysplasia (n = 7), Trichorhinophalangeal Syndrome types I/II (n = 5), Spondyloenchondrodysplasia with Immune Dysregulation (n = 6), Pseudoachondroplasia (n = 3), Primary Hypertrophic Osteoarthropathy type 1 (n = 1), Ehlers–Danlos Syndrome (n = 2), Multicentric Osteolysis‐Nodulosis‐Arthropathy (n = 1), and Mucopolysaccharidosis type VI (n = 1). Certain genetic disorders may present with musculoskeletal manifestations that closely resemble those of rheumatic diseases. Therefore, a comprehensive evaluation for underlying genetic causes is essential in patients with non‐inflammatory skeletal findings, as it improves diagnostic precision and guides appropriate management strategies. This study aims to investigate the clinical and molecular features of patients with non‐inflammatory musculoskeletal involvement, with a particular focus on the phenotypic overlap between genetic disorders and rheumatic diseases. Furthermore, seven novel variants were identified, expanding the mutational spectrum associated with these rare conditions and contributing new insights to the existing literature.

Introduction: The aim of this study early recognize diabetic nephropathy by ultrasound elastography.This study was to predict the possibility of developing diabetic nephropathy without the need for renal biopsy. Methods:This study included 100 patients and 100 healthy volunteers. Shear wave elastography examination were taken of the renal parenchyma and the Resistive Index values were taken renal artery. Results:.In the patient group, the elastography values were measured as 7.02±2.15 kPa in the right kidney parenchyma and 6.90±2.09 kPa in the left. In the control group, the elasticity values were measured as 4.14±0.98 kPa in the right kidney parenchyma and 4.11±0.85 kPa in the left. The RI mean values were determined as 0.59±0.05 in the right kidney and 0.59±0.04 in the left kidney in the patient group and 0.52±0.05 in the right kidney and 0.52±0.05 in the left kidney in the control group. Conclusion: The elastography values and the RI values were significantly higher in the patients with Type 2 DM than in the control group. Thus, it can be concluded that it is possible to determine renal fibrosis and predict the possibility of diabetic nephropathy development with the non-invasive methods of SWE and colour Doppler US, without the need for biopsy.

Characteristic ultrasound features of large cell calcifying Sertoli cell tumor (LCCSCT), including hypoechoic masses with amorphous coarse calcifications can aid in differentiating this tumor from other entities. Bilateral multiple LCCSCTs almost always show a benign course; therefore, defining the diagnosis with sonographic findings is crucial to avoid unnecessary orchiectomy.

Background and Purpose: There are a few studies regarding intracranial findings in neonates with Noonan syndrome (NS); however, there are no quantitative analyses in a pediatric population. The aim of this study was to find characteristic intracranial abnormalities and to quantitatively analyze the posterior fossa and cranium base in children with NS.Methods: A total of 30 patients (11 females and 19 males, mean age 13.1 ± 4.3 years) were retrospectively identified between July 2017 and June 2022. Twenty‐one patients had MRI. Age at MRI examination, sex, genetic mutations, and clinical findings were noted. In patients with MRI, the presence of white matter lesions, basal ganglia lesions, corpus callosum abnormalities, sellar/parasellar lesions, and tonsillar ectopia was noted. For morphometric analysis, cerebellar diameter, vermis and clivus heights, cranial base, tentorial and infratentorial angles, and McRae's and Twining's lines were each measured twice by two radiologists individually.Results: The most common lesions were focal white matter lesions, followed by abnormalities of the splenium of the corpus callosum. The cerebellar diameter, vermis and clivus heights, Twining's line, and infratentorial angle were significantly smaller; cranial base angle and tentorial angle were significantly larger in NS (p < .05). Interrater and intrarater agreements were the highest for cerebellar diameter and the lowest for tentorial angle measurements.Conclusion: Children with NS had characteristic callosal and tentorial findings and neuroimaging findings similar to other RASopathies. This study also shows that a small posterior fossa and flattening of the cranial base are present in children with NS, which may aid in diagnosis.

Amaç: Nonproliferatif diyabetik retinopatide ve Proliferatif diyabetik retinopatide optik sinir elastisitesini ve santral retinal arter rezistif indeks değerlerini karşılaştırmayı amaçladık.Materyal ve Metod: Nonproliferatif diyabetik retinopatili ve Proliferatif diyabetik retinopatili 31 olgunun optik sinir sertlik derecesi Shear-Wave Elastografi tekniğiyle değerlendirildi. Eş zamanlı olarak Renkli Doppler Ultrasonografi yöntemiyle santral retinal arterin rezistif indeks değerleri ölçülerek, kontrol gru-buyla karşılaştırıldı.Bulgular: Retinopatisi olan hastalar, retinopatisi olmayan diyabetik hastalar ve sağlıklı gönüllüler ile karşılaştırıldığında optik sinir Shear-Wave Elastografi değerleri anlamlı olarak yüksek izlendi(p<0.05).Santral retinal arter rezistif indeks değerleri retinopatisi olan hastalarda olmayanlara göre anlamlı olarak yüksek izlendi(p<0,05). Retinopatisi olmayanlar için Rİ değerleri 0,57±0,88 ve Retinopatisi olanlarda ise 0,67±0,53 olarak ölçüldü.Sonuç: Diyabetik retinopatinin etyopatogenezi hala tartışmalıdır. Nonproliferatif diyabetik retinopatide ve Proliferatif diyabetik retinopatide Shear-Wave Elastografi ile optik sinirin sertlik derecesinde ve Renkli Doppler Ultrasonografi incelemede oküler kan akım parametrelerinde anlamlı değişiklikler olabilmektedir.Anahtar Kelimeler: Diyabetik Retinopati, Shear-Wave Elastografi, Optik sinir, Renkli Doppler Ultrasonografi , Santral retinal arter