Results 61 to 70 of about 31,520 (324)

Mitochondrial Myopathy and Cardiomyopathy

Pediatric Neurology Briefs, 1989
Two siblings with infantile lactic acidosis and mitochondrial myopathy are reported from the Department of Pediatrics, Goteborg University; Ostra Hospital; Goteborg, Sweden.
J Gordon Millichap
doaj   +1 more source

Obstructive Sleep Apnea: Emerging Treatments Targeting the Genioglossus Muscle [PDF]

, 2019
Obstructive sleep apnea (OSA) is characterized by repetitive episodes of upper airway obstruction caused by a loss of upper airway dilator muscle tone during sleep and an inadequate compensatory response by these muscles in the context of an anatomically
Cano-Pumarega, Irene, Castillo-García, María, García-Río, Francisco, Martínez-Sánchez, Ana Belén, Mediano, Olga, Ortigado, Ana, Resano, Pilar, Romero-Peralta, Sofia, Sánchez de la Torre, Manuel   +8 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Infantile Hypotonia and Respiratory Failure with Missense Variant in IGHMBP2 Gene: A Case of SMARD1 Disease

Indian Pediatrics Case Reports
Background: Infantile-onset hypotonia could be due to genetic causes of neuromuscular diseases. We report an infant with spinal muscular atrophy with respiratory distress type 1 (SMARD1), which is a less-known, rare, severe, progressive congenital ...
Reshma Chillal, Jasir Usman Kattil, Anilkumar Sapare, Hiremath Sagar   +3 more
doaj   +1 more source

Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)

Stem Cell Research, 2023
Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Liani G. Devito, Valentina M. Lionello, Francesco Muntoni, Francesco Saverio Tedesco, Lyn Healy   +4 more
doaj   +1 more source

Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]

, 2017
Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio, MAZUR, MARTA DANUTA, Ndokaj, Artnora, OTTOLENGHI, Livia, PIZZUTI, Antonio   +4 more
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Dynamic Modulation of the Microenvironment Promotes Functional Maturation of Engineered Tissues

Advanced Healthcare Materials, EarlyView.
Engineered tissues lack the dynamic microenvironment of native tissues. A biocompatible, diffusible small molecule to dynamically modulate tissue microenvironments during maturation is used. Timing‐dependent modulation yields distinct outcomes, producing thicker, more native‐like blood vessels, stronger and more mature cardiac tissues, and optimized ...
Eric Silberman, Hadas Oved, Itay Gil, Amgad Marzook, Ester Sapir Baruch, Yahel Shechter, Assaf Shapira, Tal Dvir   +7 more
wiley   +1 more source

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

Journal of the Formosan Medical Association, 2008
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su   +5 more
doaj   +1 more source