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Total 496 results found since Jan 2013.

Low handgrip strength is associated with diabetic foot disease in geriatric patients with type 2 diabetes
This study aims to reveal the prevalence of low handgrip strength in older patients with type 2 diabetes who have diabetic foot disease and to assess the association of handgrip strength with diabetic foot disease in older patients with type 2 diabetes.METHODS: Eighty-nine geriatric patients with diabetic foot ulcers and 69 patients without diabetic foot ulcers who presented to the endocrinology outpatient clinic between August 2020 and November 2021 were included in the study. The exclusion criteria were the usage of steroids, stroke-induced quadriplegia, myopathy, disability, hemodialysis treatment, type 1 diabetes, pati...
Source: Turkish Journal of Medical Sciences - March 22, 2023 Category: General Medicine Authors: Eren İmre Ne şe Koçakgöl Erdi İmre Source Type: research

Limb-girdle myopathy and mild intellectual disability: the expanding spectrum of TANGO2-related disease
Transport and Golgi organization 2 homolog (TANGO2)-related disease is a rare metabolic disorder with autosomal recessive inheritance caused by biallelic pathogenic variants in the TANGO2 gene located in chromosome 22. [1] The most common pathogenic variant is a deletion of exons 3 –9. However, up to twenty-seven unique variants have been reported in the literature [2]. Of note, no clear genotype-phenotype correlation has been recognized to date [3]. The exact physiopathology of the disease is unknown; however, recent studies have revealed a picture of cellular dysfunction t hat extends from altered mitochondrial energy ...
Source: Neuromuscular Disorders - February 21, 2023 Category: Neurology Authors: Juan Luis Restrepo-Vera, Patricia Mu ñoz-Cabello, Jordi Pérez-Rodon, Eulàlia Rovira-Moreno, Marta Codina-Sola, Arnau Llauradó, Maria Salvadó, Daniel Sánchez-Tejerina, Javier Sotoca, Elena Martínez-Sáez, Elena García-Arumí, Raul Juntas-Morales Tags: Case report Source Type: research

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
We present a patient with unusual episodes of muscular weakness due to homozygous deletion of exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described with homozygous and compound heterozygous, predominantly loss of function (LoF) variants in the MICU1 gene that lead to autosomal recessive myopathy with extrapyramidal signs. Most described patients developed muscle weakness and elevated CK levels, and half of the patients had progressive extrapyramidal signs and learning disabilities. Our patient had a few severe acute episodes of muscle weakness with minimal myopathy features between episo...
Source: Frontiers in Neurology - November 8, 2022 Category: Neurology Source Type: research

Gestational diabetes is associated with alteration on pelvic floor muscle activation pattern during pregnancy and postpartum: Prospective cohort using electromyography assessment
ConclusionThe results suggest that GDM impaired PFM control mainly on 1-sec flicks and 10-sec hold contraction, which appears to develop during late pregnancy and extends long-term postpartum. This motor behavior may play a role on pelvic floor dysfunctions.
Source: Frontiers in Endocrinology - October 6, 2022 Category: Endocrinology Source Type: research

P.20 Experiences of and perspectives on bullying in youth with myopathies
Bullying is intentional behaviour designed to harm victims. 1 in 10 Canadian youth are bullied 2 or more times a month. Youth with physical disabilities are more likely to be bullied, especially those with mobility restrictions. A gap exists in bullying research about populations with progressive mobility restrictions. Myopathies are a group of muscle diseases (i.e., muscular dystrophy, congenital myopathy) with a progressive course and can result in a dependence on assistive devices and assistance with activities of daily living.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: N. Chatur, C. Ippolito, L. McAdam Source Type: research

VP.43 Immune-mediated necrotizing myopathies: clinical-serological features of a large Italian cohort of patients
Immune-mediated necrotizing myopathies (IMNMs) represent a heterogeneous group of muscle disorders recently identified within the spectrum of idiopathic inflammatory myopathies (IIMs) by distinctive clinical, pathological, serological, and therapeutic features. Currently, three different IMNM entities have been defined: 1) anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy; 2) anti-signal recognition particle (SRP) myopathy; 3) antibody negative IMNM. An accurate diagnosis of IMNMs is relevant for prognostic purposes and to provide the best chance of treatment for patient subtypes and prevent long-term disability.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: S. Bonanno, L. Maggi, IMNM Italian Study Group Source Type: research

Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case
The MICU1 gene encodes the mitochondrial calcium uptake 1 protein, an essential regulator of mitochondrial Ca2+ uptake and mitochondrial calcium homeostasis [1]. Bi-allelic loss-of-function (LOF) variants in MICU1 are known to cause a rare, autosomal recessive neuromuscular disease, also termed ‘myopathy with extrapyramidal signs’ (MPXPS) (OMIM #615673) [2]. The clinical phenotype usually includes childhood-onset proximal weakness with increased serum CK and liver enzymes, developmental delay and intellectual disability.
Source: Parkinsonism and Related Disorders - September 9, 2022 Category: Neurology Authors: Christina Fevga, Federico Ferraro, Guido J. Breedveld, Charulata Savant Sankhla, Vincenzo Bonifati Tags: Correspondence Source Type: research

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
This article is protected by copyright. All rights reserved.PMID:35932216 | DOI:10.1111/cge.14208
Source: Clinical Genetics - August 6, 2022 Category: Genetics & Stem Cells Authors: Sara Nagy Tracy Lau Shahryar Alavi Ehsan Ghayoor Karimiani Jalal Vallian Bobby G Ng Samaneh Noroozi Asl Javad Akhondian Amir Bahreini Omid Yaghini Prech Uapinyoying Carsten Bonnemann Hudson H Freeze Vajira H W Dissanayake Nirmala D Sirisena Miriam Schmidt Source Type: research