Results 81 to 90 of about 5,284 (245)
BMC Pulmonary Medicine, 2022 Background Neuromuscular pathologies must be considered when caring for patients with persistent or progressive respiratory failure. Pertinent disease states may involve skeletal muscles of respiration or associated neurologic structures including motor ...
Pradhab Kirupaharan +4 more
doaj +1 more source
Pregnancy, Volume 1, Issue 4, July 2025.Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani +4 more
wiley +1 more source
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
Nemaline Myopathy: Respiratory Failure
Pediatric Neurology Briefs, 1991 A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
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Bi-allelic mutations in MYL1 cause a severe congenital myopathy. [PDF]
, 2018 OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic ...
Borsari, M +19 more
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Prevalence of function‐limiting late effects in survivors of head and neck cancer
PM&R, Volume 17, Issue 6, Page 654-662, June 2025.Abstract Background Survivors of head and neck cancer (HNC) are commonly affected by multiple complex and interrelated long‐term and late effects that can adversely affect their function and quality of life. Objective To define the prevalence of neuromuscular, musculoskeletal, visceral, oncologic, and other late effects affecting function and quality ...
Yu Hui Won, Michael D. Stubblefield
wiley +1 more source
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy
Disease Models & Mechanisms, 2015 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and affects either fast myofibers, slow myofibers, or both. However, an animal model for congenital myopathy with fast-myofiber-specific atrophy is not available. Furthermore,
Lei Tian +7 more
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Alpha‐Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle
Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.We examined alpha‐synuclein in muscle and serum samples of patients with IBM and other neuromuscular disorders. With the use of immunohistochemistry, we identify alpha‐synuclein muscular reactivity as a complementary diagnostic marker. Serum alpha‐synuclein levels measured by ELISA were not generally altered in IBM but correlated with disease duration ...
Tobias Mayer +14 more
wiley +1 more source
Revista Médica Clínica Las Condes, 2018 : Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
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Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers [PDF]
, 2017 Background: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the
Campbell, Kevin P. +11 more
core +1 more source