Results 111 to 120 of about 12,116 (229)

Rare Manifestation of Sjogren's Syndrome: Renal Tubular Acidosis‐Induced Hypokalemic Paralysis—A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Sjogren's syndrome (SS) is an autoimmune disorder characterized by inflammation of exocrine glands, often presenting with symptoms such as dry eyes and mouth. Although less common, renal involvement can lead to serious complications like hypokalemic paralysis.
Premendra Vimal, Dhiraj Chaurasia, Dipesh Jha, Raj Adhikari   +3 more
wiley   +1 more source

Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

JPGN Reports, Volume 7, Issue 2, Page 247-251, May 2026.
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski, Gary Galante, Kiera Pajunen, Marie‐Anne Brundler, Samarjeet Bhandal, Iwona Wrobel   +5 more
wiley   +1 more source

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions

Biology
Cellular stress triggers the formation of diverse RNA–protein aggregates, which can be associated with physiological responses, pathological conditions, or even detrimental outcomes.
Beatriz Ramos-Velasco, José Alcalde, José M. Izquierdo   +2 more
doaj   +1 more source

Panorama of the distal myopathies. [PDF]

Acta Myol, 2020
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B.   +7 more
europepmc   +1 more source

Differential Diagnosis of Progressive Generalized or Symmetrical Flaccid Paralysis [PDF]

, 1977
Progressive flaccid paralysis occurring over a period of hours or days is usually associated with the Landry-Guillain-Barré-Strohl syndrome. This symptom complex is often accompanied by a history of previous flu-like illness, antecedent myalgias, and ...
Isaacs, Edward R.
core   +1 more source

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Annals of Clinical and Translational Neurology
Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts ...
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +16 more
doaj   +1 more source

Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

Indian Pediatrics Case Reports
Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy.
Yamini Patial, Rohit Anand
doaj   +1 more source