Results 11 to 20 of about 16,650 (226)

COVID-19 patients in myasthenic crisis managed successfully with noninvasive positive pressure ventilation: a case series.

Critical Care Innovations, 2021
The management of respiratory failure during the present pandemic has been a challenging issue for the intensivists. There have been few case series and case reports on myasthenic crisis precipitated by severe acute respiratory syndrome coronavirus-2 ...
Mohd Mustahsin, Sanjay Choubey, Varun Malhotra   +2 more
doaj   +1 more source

Electrophysiological evaluation of the neuromuscular junction: a brief review

Arquivos de Neuro-Psiquiatria, 2023
The nerve terminal and muscle membrane compose the neuromuscular junction. After opening the voltage-gated calcium channels, action potentials from the motor axons provoke a cascade for the acetylcholine release from synaptic vesicles to the synaptic ...
João Aris Kouyoumdjian, Eduardo de Paula Estephan   +1 more
doaj   +1 more source

Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Stem Cell Research, 2020
Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for ...
Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdee T. Ryalat, Abdalla Awidi   +6 more
doaj   +1 more source

Lambert‐Eaton myasthenic syndrome with primary thymic marginal zone B‐cell lymphoma: A case report

Respirology Case Reports, 2023
Lambert‐Eaton myasthenic syndrome (LEMS) is an autoimmune paraneoplastic syndrome with proximal muscle weakness, that often complicates small cell lung cancer.
Toshihiko Soma, Akira Matsumoto, Tsuyoshi Shoji, Hiromichi Katakura   +3 more
doaj   +1 more source

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome. [PDF]

Acta Neuropathol Commun
Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kölbel H, Nascimento A, Ortez C, Abicht A, Thakur BK, Lochmüller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A, Roos A.   +18 more
europepmc   +3 more sources

Lambert-Eaton myasthenic syndrome against the background of thyroid cancer: a clinical case [PDF]

Клиническая практика
BACKGROUND: Lambert–Eaton myasthenic syndrome (G73.1 according to ICD-10) is a rare autoimmune disease associated with a presynaptic impairment of neuromuscular transmission due to the production of antibodies to voltage-gated calcium channels.
Elena V. Khozhenko, Elena S. Kiparisova, Iraida V. Larina, Alexandra L. Vaulicheva, Sergey S. Grigoriev, Elvira S. Mavlyudova   +5 more
doaj   +1 more source

Lung adenocarcinoma with Lambert–Eaton myasthenic syndrome indicated by voltage-gated calcium channel: a case report

Journal of Medical Case Reports, 2012
Introduction Lambert–Eaton myasthenic syndrome is a rare disorder and it is known as a paraneoplastic neurological syndrome. Small cell lung cancer often accompanies this syndrome.
Arai Hiromasa, Inui Kenji, Hashimoto Kazuki, Kan-o Kazuki, Nishii Teppei, Kishida Hitaru, Okudela Koji, Tsuboi Masahiro, Nozawa Akinori, Kaneko Takeshi, Masuda Munetaka   +10 more
doaj   +1 more source

Congenital myasthenic syndromes [PDF]

Orphanet Journal of Rare Diseases, 2019
Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. Since the field of CMSs is steadily expanding, the present review aimed at summarizing and discussing current knowledge and recent advances concerning the etiology ...
openaire   +3 more sources

Congenital Myasthenic Syndromes: End-Plate AChR Lack

Pediatric Neurology Briefs, 1998
Two families with 5 affected members suffering from congenital myasthenic syndrome are reported from University Hospital, Bonn, Germany.
J Gordon Millichap
doaj   +1 more source

Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report

SAGE Open Medical Case Reports, 2023
Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as ...
Khairunnisa Mukhtiar, Mohammad Raza, Isbaah Tejani, Farhan Ali, Shahnaz Ibrahim   +4 more
doaj   +1 more source