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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 PDFATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.
Cerebellum
January 2025
Genetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant (AD) neurodegenerative disorder prevalent in the Americas, particularly in Mexico. Clinical manifestations include progressive ataxia and epilepsy. However, it can exhibit wide phenotypic variability and even reduced penetrance.
View Article and Find Full Text PDFFrequency and Impact of Constitutional Mismatch Repair Deficiency in Patients With High-Grade Glioma, a Retrospective Analysis of 7 Years in Pakistan: an IRRDC Study.
JCO Glob Oncol
January 2025
Department of Oncology, Aga Khan University Hospital, Karachi, Pakistan.
Purpose: Constitutional mismatch repair deficiency (CMMRD) is a genetic cancer predisposition syndrome among children and young adults. This study aimed to evaluate the frequency of CMMRD among patients with pediatric high-grade glioma (pHGG) in a single tertiary care center in Pakistan, a country with high consanguinity rates.
Patients And Methods: We reviewed the data of patients age <18 years with pHGG, anaplastic astrocytoma, and diffuse midline glioma (DMG) with CMMRD testing between 2016 and 2023.
Gene therapy in hemophilia: the dawn of a new era.
Res Pract Thromb Haemost
January 2025
Dipartimento di Fisiopatologia Medico-chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italia.
Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures.
View Article and Find Full Text PDFPre-patellar Tumoral Calcinosis of Knee with Intra-articular Extension: An Index Case Study.
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, Maulana Azad Medical College, Bahadur Shah Marg, New Delhi, India.
Introduction: Tumoral calcinosis is a rare hereditary condition characterized by the deposition of calcium phosphate and hydroxyapatite in periarticular soft tissues. First described by Giard and Duret in 1898 and later detailed by Inclan in 1943, this condition has often been confused with other forms of periarticular calcification. Tumoral calcinosis predominantly affects young males and is typically found around major joints, such as the shoulder, elbow, hip, ankle, and wrist.
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