A 52-year-old male developed hypertrophy of the right calf after several bouts of right lumbar pain with sciatica. Electromyography disclosed evidence of demyelination in the territories of the right S1 and S2 roots. Microscopic studies showed both atrophic muscle fibers scattered among fibers of normal caliber and a large number of hypertrophic fibers. Post-sciatica hypertrophy of the calf is a true muscle hypertrophy with muscle weakness. Electromyography may show unusual tracings with repeated complex bursts or continuous activity of motor units. Muscle enzyme levels may be elevated. The size of hypertrophied fibers varies across cases. The cause of the muscle fiber hypertrophy may be either stretching due to the action of antagonists or unusual electrical activity.
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Neuromuscul Disord
December 2024
The John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, United Kingdom.
Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85-90 % of cases are sporadic, desmoid tumours can occasionally be associated with Gardner syndrome (or Familial Adenomatous Polyposis), which is linked to variants in the tumour suppressor gene, APC (adenomatous polyposis coli) gene on chromosome 5.
View Article and Find Full Text PDFIndian Pediatr
December 2024
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Objective: To assess the clinical and molecular profile of patients with Duchenne Muscular Dystrophy (DMD) presenting to a tertiary center in Eastern Region of Uttar Pradesh, India.
Methods: In this retrospective study, case records of all patients diagnosed as DMD were analyzed to ascertain the clinical phenotype and molecular profile. Multiplex polymerase chain reaction (mPCR) technique, Multiplex Ligation Dependent Probe Amplification (MLPA) and Next Generation Sequencing (NGS) were used for establishing the molecular diagnosis.
Pulm Circ
July 2024
Department of Internal Medicine I Jena University Hospital, Friedrich-Schiller-University Jena Jena Thuringia Germany.
We present the case of an 18-year-old woman with a 5-day history of thoracic pain and dyspnea following physical exertion, along with swelling of her right calf. Computertomography (CT) angiography confirmed a massive central pulmonary artery embolism (PE) of the left main branch. The patient underwent catheter-directed thrombolysis.
View Article and Find Full Text PDFCureus
August 2024
Neurological Surgery, Nakamura Memorial Hospital, Sapporo, JPN.
Ir J Med Sci
December 2024
Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, GENOPATH Center, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Background: Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33.
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