Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Neuromuscul Disord
January 2025
ERN-NMD Center for Neuromuscular Disorders of Messina - Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:
Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.
View Article and Find Full Text PDFMuscle pseudohypertrophy as the presenting manifestation of autoimmune hypothyroidism: Hoffmann's syndrome.
BMJ Case Rep
January 2025
Internal Medicine, RG Kar Medical College and Hospital, Kolkata, West Bengal, India.
Hoffmann syndrome, a rare manifestation of hypothyroid myopathy in adults, is characterised by muscle weakness, stiffness and pseudohypertrophy. Here, we report the case of a middle-aged man who presented with progressive weakness in proximal muscles (in the form of difficulty in climbing stairs, rising from a seated position, combing hair and lifting objects) and leg swelling for 6 months. Physical examination revealed pseudohypertrophy of calf muscles with pronounced symmetric weakness in proximal upper and lower limbs.
View Article and Find Full Text PDFObjective: Aim: To reveal the criteria for effective treatment of this pathology and to compare it with the conventional physical factors.
Patients And Methods: Materials and Methods: The research has been taken on 60 people, A control group (CG), including 30 people, treated with basic therapy and experimental group (EG). including 30 people, treated with the same basic therapy and RSWT once per week for seven consecutive weeks.
Transcriptome analysis of muscle atrophy in Leizhou black goats: identification of key genes and insights into limb-girdle muscular dystrophy.
BMC Genomics
January 2025
Zhanjiang Experimental Station, Chinese Academy of Tropical Agricultural Sciences, Zhanjiang, 524013, China.
Background: The Leizhou Black Goat (LZBG), a prominent breed in tropical China's meat goat industry, frequently exhibits inherent muscle atrophy and malnutrition-related traits. Particularly, muscles critical for support, such as the legs, often display severe symptoms. This study aimed to investigate the differential genes and signaling pathways influencing muscle development and atrophy across various muscle locations in LZBG from a muscular atrophy-affected family.
View Article and Find Full Text PDFMorphometric assessment of mandibles with complications resulting from temporomandibular joint ankylosis in children from 4 months to 3 years of age.
Acta Bioeng Biomech
September 2024
Laboratory of Physiotherapy and Physioprevention, Institute of Physiotherapy and Health Sciences, Academy of Physical Education, Katowice, Poland.
: The main aim of this paper was to perform the morphological assessment of children's mandibles of different etiology of dys-functions within the temporomandibular joint, from isolated idiopathic ankylosis to craniofacial malformations co-existing with genetic disorders. : The investigations encompassed seven patients at the age of 0-3. Measurements were conducted on the basis of data obtained from computed tomography.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!