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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.
Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFA large type IV-A choledochal cyst mimicking hydatid cyst of the liver: A case report.
Int J Surg Case Rep
January 2025
Department of Surgery, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Introduction: Choledochal cysts are rare congenital anomalies of the bile ducts, with adult presentations being uncommon. This case is notable for its atypical presentation in a young adult, mimicking a hydatid cyst in a region where echinococcosis is endemic.
Case Presentation: A 22-year-old female presented with a 3-month history of progressive jaundice, accompanied by 5 months of epigastric and right upper quadrant pain, dark urine, pale stools, pruritus, and significant weight loss.
Gastric outlet obstruction in an 11-year-old girl due to a pyloric diaphragm - A case report and a systematic literature review.
Int J Surg Case Rep
January 2025
Faculty of Medicine, Damascus University, Damascus, Syria.
Introduction: Congenital pyloric web or diaphragm are rare causes of Gastric Outlet Obstruction (GOO) after infancy, representing approximately 1 % of gastrointestinal obstructions. While it typically presents in the neonatal period with nonbilious vomiting, delayed diagnosis beyond infancy is exceptionally rare.
Presentation Of The Case: An 11-year-old girl with presented with one-month history of postprandial vomiting.
Inpatient Audiologic Services Facilitate Early Hearing Detection.
Am J Audiol
January 2025
Division of Clinical Therapies, Department of Audiology, Nationwide Children's Hospital, Columbus, OH.
Purpose: Infants needing neonatal intensive care unit (NICU) intervention have protracted timelines for diagnosis after not passing their newborn hearing screening despite being at higher risk for congenital hearing loss. The primary aim of this study was to evaluate the outcomes of early hearing detection for infants with a history of NICU admission. The secondary aim was to determine if diagnostic audiology services within the NICU setting accelerated diagnosis and intervention.
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