Zobrazeno 1 - 10
of 174
pro vyhledávání: '"generalized muscle weakness"'
Autor:
Nadja Minopoli, Hans Hartmann, Sabine Borrel, Charlotte Pfrimmer, Nicole Muschol, Bernd A. Neubauer, Martin Smitka, Janbernd Kirschner, Johanna Holzwarth, Elke Hobbiebrunken, Andreas Hahn, Ralf A. Husain, Julia B. Hennermann
Publikováno v:
Neuropediatrics. 53:039-045
Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To
Publikováno v:
Case Reports in Endocrinology
Case Reports in Endocrinology, Vol 2021 (2021)
Case Reports in Endocrinology, Vol 2021 (2021)
Patients with hyperthyroidism or thyrotoxicosis present with an unspecific constellation of signs or symptoms such as palpitations, tremors, weight loss, or diarrhea. In some severe cases, hyperthyroidism can predispose patients to metabolic abnormal
Publikováno v:
Drugs & Therapy Perspectives. 37:315-327
In this study we perform a review of the literature on systemic muscle weakness after administration of botulinum toxin A, to describe the factors that predispose patients to this adverse event and to suggest strategies for prevention. Our search cri
Autor:
Maha Alotaibi, Amir Ariamand, Arndt Rolfs, Malak Alghamdi, Peter Bauer, Ana Westenberger, Christian Beetz, Aida M. Bertoli-Avella, Lia Abbasi-Moheb, Jozef Hertecant
Publikováno v:
Clinical Genetics. 99:513-518
Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss-of-function variants in the HACD1 gene have been reporte
Autor:
Valentina Y. Berg, Alexander M. Matyushenko, Anastasia M. Kochurova, Dmitrii I. Levitsky, Sergey Yu. Kleymenov, Anastasiia D. Gonchar, Andrey K. Tsaturyan, Galina V. Kopylova, Natalia A. Koubasova, D. V. Shchepkin
Publikováno v:
Biochemical and Biophysical Research Communications. 534:8-13
Tropomyosin (Tpm) is an actin-binding protein that plays a crucial role in the regulation of muscle contraction. Numerous point mutations in the TPM3 gene encoding Tpm of slow skeletal muscles (Tpm 3.12 or γ-Tpm) are associated with the genesis of v
Autor:
Ankur Kumar
Publikováno v:
International Journal of Orthopaedics Sciences. 7:752-754
Giant Cell tumors are rare, locally aggressive tumors, seen most commonly in long bones. These benign bone tumors are usually associated with disturbance of the bony architecture whereas, myasthenia gravis is an autoimmune disorder affecting the neur
Publikováno v:
Acta Neurologica Belgica. 120:1351-1360
Nemaline myopathy, a rare congenital myopathy, is characterized by generalized muscle weakness, hypotonia, respiratory insufficiency, and the presence of rod structures on muscle biopsy, which is caused by mutations in at least 13 known genes. A pati
Publikováno v:
Egyptian Journal of Health Care. 10:295-314
Background: Intensive Care Unit Acquired Muscle Weakness (ICU-AW) is one of the most important complications occurs in the ICU. ICU-AW is a multifactorial syndrome characterized by generalized muscle weakness. Critical care nurses (CCNs) have an impo
Autor:
Angela Abicht, Alfons Macaya, Marina Dusl, M. Gratacos, Francina Munell, Teresa Moreno, Tim M. Strom, Jan Senderek, Hanns Lochmüller
Publikováno v:
Journal of Neurology. 266:1107-1112
Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular junction. More recently, biallelic COL13A1 loss-of-function mutations were identified in three pa
Publikováno v:
Cureus
Hypoxemic respiratory failure caused by coronavirus disease 2019 (COVID-19) may lead to prolonged intensive care unit stay and mechanical ventilation. Critically ill patients often develop intensive care unit acquired weakness (ICUAW), which is an um