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Successful Long-Term Management of NF1 Congenital Tibial Dysplasia with Prophylactic Bypass Graft and Bracing: A Case Report.
JBJS Case Connect
October 2024
Department of Orthopaedics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Case: An 8-year-old girl with NF1 and congenital tibial dysplasia with significant bilateral tibial bowing underwent McFarland procedures. Now age 22 with 14-year follow-up indicating sustained correction and healing of her bilateral limb deformities.
Conclusion: This case illustrates the McFarland procedure provided adequate corrective treatment of this deformity and remains a success at long-term follow-up.
Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.
PLoS One
January 2025
Institute for Biomedical Ethics, University of Basel, Basel, Switzerland.
Introduction: 22q11 deletion syndrome (22q11DS) results from a microdeletion on chromosome 22 and is the most common microdeletion disorder in humans, affecting 1 in 2148 live births. Clinical manifestations vary widely among individuals and across different life stages. Effective management requires the involvement of a specialized multidisciplinary team.
View Article and Find Full Text PDFmiRNA Expression Profile in Primary Limbal Epithelial Cells of Aniridia Patients.
Invest Ophthalmol Vis Sci
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Homburg/Saar, Germany, Saarland University, Homburg/Saar, Germany.
Purpose: This study evaluates the microRNA (miRNA) expression profile in primary limbal epithelial cells (pLECs) of patients with aniridia.
Methods: Primary human LECs were sampled and isolated from 10 patients with aniridia and 10 healthy donors. The miRNA profile was analyzed using miRNA microarrays.
Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.
Curr Cardiol Rep
January 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.
Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.
View Article and Find Full Text PDFHuman organoids for rapid validation of gene variants linked to cochlear malformations.
Hum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
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