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Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Inter-Rater Disagreements in Applying the Montreal Classification for Crohn's Disease: The Five-Nations Survey Study.
United European Gastroenterol J
January 2025
Sheba Medical Center, Institute of Gastroenterology, Ramat-Gan, Israel.
Background: The Montreal classification has been widely used in Crohn's disease since 2005 to categorize patients by the age of onset (A), disease location (L), behavior (B), and upper gastrointestinal tract and perianal involvement. With evolving management paradigms in Crohn's disease, we aimed to assess the performance of gastroenterologists in applying the Montreal classification.
Methods: An online survey was conducted among participants at an international educational conference on inflammatory bowel diseases.
Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.
Mov Disord
January 2025
Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.
View Article and Find Full Text PDFAssessment of Quality of Life in Mothers of Visually Impaired Children.
J Coll Physicians Surg Pak
January 2025
Al-Shifa School of Public Health, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Objective: To assess the factors that affect mothers' quality of life (QOL) and the association of various demographic variables with QOL of the respondents.
Study Design: A cross-sectional survey. Place and Duration of the Study: Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan, from April to September 2023.
Relationship of modifiable risk factors with the incidence of thyroid cancer: a worldwide study.
BMC Res Notes
January 2025
Non-Communicable Diseases Research Center, Department of Epidemiology, School of Health, Shiraz University of Medical Sciences, Shiraz, Iran.
Background: Thyroid cancer is one of the most common cancers of the endocrine system. The incidence of this cancer has increased in many countries. Many cases of thyroid cancer do not have any symptoms.
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