Results 81 to 90 of about 2,278 (204)

Rheumatic conditions in human immunodeficiency virus infection [PDF]

, 2017
Many rheumatic diseases have been observed in HIV-infected persons. We, therefore, conducted a comprehensive literature search in order to review the prevalence, presentation and pathogenesis of rheumatic manifestations in HIV-infected subjects ...
Daikeler, T., Tyndall, A., Walker, U. A.
core  

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice [PDF]

, 2017
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and
Alves, MM, Brooks, AS, Brosens, E, Brouwer, RWW, Burns, AJ, Christie, CK, de Mesy Bentley, KL, Djuwantono, T, Doukas, M, Halim, D, Han, Y, Hofstra, RMW, Jin, ZG, Lyu, Q, Miano, JM, Nanda, V, Oliver, D, Slivano, OJ, Stoop, H, Tibboel, D, van IJcken, WFJ, Verheij, JBGM, Wilson, MP, Xu, S, Yan, W   +24 more
core   +7 more sources

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

Nemaline myopathy.

Archives of pathology & laboratory medicine, 1978
Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
openaire   +3 more sources

Transcriptional response to cardiac injury in the zebrafish: systematic identification of genes with highly concordant activity across in vivo models [PDF]

, 2014
Background: Zebrafish is a clinically-relevant model of heart regeneration. Unlike mammals, it has a remarkable heart repair capacity after injury, and promises novel translational applications. Amputation and cryoinjury models are key research tools for
Azuaje, Francisco, da Costa, Ricardo M Benites, González-Rosa, Juan Manuel, Ibberson, Mark, Jeanty, Céline, Mercader, Nadia, Nazarov, Petr V, Nepomuceno-Chamorro, Isabel A, Rodius, Sophie, Xenarios, Ioannis   +9 more
core   +5 more sources

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]

, 2014
Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core   +1 more source

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

Health Expectations, Volume 28, Issue 6, December 2025.
ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon   +13 more
wiley   +1 more source

Congenital myopathies: A clinicopathological study of 25 cases

Indian Journal of Pathology and Microbiology, 2008
Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali, Sharma Mehar, Sarkar Chitra, Gulati Shefali, Kalra Veena, Singh Sumit, Bhatia Rohit   +6 more
doaj  

Collagenase treatment does not impair fiber contractile function in muscle biopsies from children with cerebral palsy

Physiological Reports, Volume 13, Issue 21, November 2025.
Abstract Cerebral palsy (CP) often presents with increased passive stiffness of the skeletal muscles, primarily due to increased collagen in the extracellular matrix. Collagenase from Clostridium histolyticum (CCH), an enzyme that degrades collagen, is used clinically to treat fibrotic conditions such as Dupuytren's contracture and Peyronie's disease ...
Faizan Syed, Latif Omerkhil, Venus Joumaa, Jason J. Howard, Timothy R. Leonard, Walter Herzog   +5 more
wiley   +1 more source

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies [PDF]

, 2017
Congenital myopathies are genetically and clinically heterogeneous conditions causing severe muscle weakness, and mutations in the ryanodine receptor gene (RYR1) represent the most frequent cause of these conditions.
Attali, Ruben, Finotti, Alessia, Gambari, Roberto, Gautel, Mathias, Heytens, Luc, Jungbluth, Heinz, Mitrani-Rosenbaum, Stella, Mosca, Barbara, Muntoni, Francesco, Nevo, Yoram, Pillay, Komala, Rokach, Ori, Sekulic-Jablanovic, Marijana, Treves, Susan, Voermans, Nicol, Wilmshurst, Jo, Zhou, Haiyan, Zorzato, Francesco   +17 more
core