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Total 71 results found since Jan 2013.

Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning
ConclusionOur unsupervised learning model appears to be able to recognize muscles altered by the presence of edema and fatty replacement.
Source: PLoS One - May 8, 2023 Category: Biomedical Science Authors: Amalia Lupi Source Type: research

What to Know if Your Doctor Put You on Statins to Lower Cholesterol
High cholesterol is a prime example of having too much of a good thing. Our bodies naturally make this substance in the liver and then transport it throughout the body for multiple functions, including hormone regulation, cell tissue regeneration, and vitamin absorption. When the system is working well, cholesterol can boost overall health. But when a certain type called low-density lipoprotein—LDL, sometimes dubbed the “bad” kind—is overproduced, not only does it block the “good” kind called high-density lipoprotein (HDL), but it can also begin to accumulate in the arteries and form thi...
Source: TIME: Health - January 25, 2023 Category: Consumer Health News Authors: Elizabeth Millard Tags: Uncategorized healthscienceclimate heart health Source Type: news

Ectopic adrenocorticotrophic hormone syndrome secondary to treatment-related neuroendocrine differentiation of metastatic castrate-resistant prostate cancer
Endocrinol Diabetes Metab Case Rep. 2023 Jan 1;2023:22-0347. doi: 10.1530/EDM-22-0347. Online ahead of print.ABSTRACTSUMMARY: A 64-year-old man with progressive metastatic castrate-resistant prostate adenocarcinoma presented with recurrent fluid overload, severe hypokalaemia with metabolic alkalosis and loss of glycaemic control. Clinical features were facial plethora, skin bruising and proximal myopathy. Plasma adrenocorticotrophic hormone (ACTH), serum cortisol and 24-h urinary cortisol levels were elevated. Low-dose dexamethasone failed to suppress cortisol. Pituitary MRI was normal and 68Gallium-DOTATATE PET-CT scan sh...
Source: Cancer Control - January 10, 2023 Category: Cancer & Oncology Authors: Chelsea Tan Jessica Triay Source Type: research

Deep Learning Model for Needle Electromyography Electrodiagnosis in Comparison With Physician Assessment: A Retrospective Study
To investigate whether the deep-learning approach can better classify EMG waveforms into neuropathy, myopathy, than normal physicians ’ electrodiagnosis results.
Source: Archives of Physical Medicine and Rehabilitation - December 1, 2022 Category: Rehabilitation Authors: Seongdae Kim, Gyu seong Kim, Woosup Cho, Hyunbok Song, Seohee Jang, Doeun lee, Jeongeun Kim, Sun G Chung, Keewon Kim Tags: Research Poster 2184399 Source Type: research

Assessment of idiopathic inflammatory myopathy using a deep learning method for muscle T2 mapping segmentation
ConclusionAutomatic DL could be used to segment thigh muscles and help quantitatively assess muscular inflammation of IIM through T2 mapping.Key Points•Muscle T2 mapping automatically segmented by deep learning can differentiate IIM from healthy controls.•T2 value, an indicator of active muscle inflammation, positively correlates with serum muscle enzymes.• T2 mapping can detect muscle disease in patients with normal muscle enzyme levels.
Source: European Radiology - November 18, 2022 Category: Radiology Source Type: research

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia
Misato mitochondrial distribution and morphology regulator 1 (MSTO1) is a nuclear-encoded cytoplasmic protein involved in mitochondrial fusion and distribution. Its disruption causes an extremely rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia. The genotype-phenotype correlation in the MSTO1 gene is rarely studied before 2017, and only 25 mutations have been described in the patients. Here, we reported two siblings with progressive cerebellar atrophy and ataxia in a Chinese family. Two compound heterozygous mutations in the MSTO1 gene, a novel missense mutation c.571C>T (p.Arg191T...
Source: Frontiers in Neurology - November 17, 2022 Category: Neurology 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

What is Ondine ’ s Curse?
Discussion Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant with variable inheritance genetic disease caused by mutation in the Paired Like Homeobox B2 (PHOX2B) gene on chromosome 4. There are two other genes which may also cause CCHS. CCHS affects the chemoreceptor afferent ventilation pathways and is a neural crest migration problem of the autonomic nervous system. The incidence is unknown but a prevalence of 1 in 200,000 live births has been reported. Obviously it is a rarer phenomenon because of the general lethality of the syndrome. Patients usually present at birth or soon afterwards, but o...
Source: PediatricEducation.org - August 15, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Toxic Myopathies
AbstractPurpose of reviewThe goal of this paper is to review the clinical, electrophysiologic, and histopathologic features of toxic myopathy related to prescribed medications, highlighting new understanding. This paper is organized by treatment class to allow providers to easily prioritize learning about the potential myotoxic side effects of the medications they prescribe most frequently. Pathogenesis of toxicity is also discussed.Recent findingsMild muscle-related symptoms are common among statin users, but rarely statins can cause weakness due to either a toxic necrotizing myopathy or an immune-mediated necrotizing myo...
Source: Current Treatment Options in Neurology - May 4, 2022 Category: Neurology Source Type: research

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1)
In this report, we summarize the major topics presented at this conference by a range of experts.PMID:35405261 | DOI:10.1016/j.nbd.2022.105722
Source: Neurobiology of Disease - April 11, 2022 Category: Neurology Authors: Michelle A Johnson Jacob A Klickstein Richa Khanna Yunzi Gou Cure VCP Disease Research Consortium Malavika Raman Source Type: research

Update on Cutaneous Signs to Assist in the Diagnosis of Dermatomyositis
AbstractPurpose of ReviewDermatomyositis (DM) is a heterogeneous idiopathic inflammatory myopathy that can be challenging to diagnose. Learning about the cutaneous manifestations in DM can assist with prompt diagnosis as well as subgroup classification. This review highlights recent data regarding cutaneous signs in DM and their associations with myositis-specific antibodies (MSAs).Recent FindingsSeveral novel DM skin signs have recently been reported. Novel and confirmatory data have helped to define more clearly the associations between various cutaneous manifestations and MSAs.SummaryAwareness of the diverse cutaneous p...
Source: Current Rheumatology Reports - April 11, 2022 Category: Rheumatology Source Type: research

What Are Some Initial Evaluations for Suspected Congenital Muscle Diseases?
Discussion Usually congenital myopathies (CM, e.g. nemaline, core, centronuclear myopathies, etc.) and congenital muscular dystrophy (CMD, e.g. LAMA2-related, collage VI-related, alpha-dystroglycan-related muscular dystrophy, etc.) have been diagnosed based on physical examination and histopathology. Traditionally CMs are due to problems with the muscle contractile apparatus and structures that assist excitation-contraction coupling. CMD are due to problems with the extracellular matrix, muscle membrane and sarcolemmal membrane. Differentiating between CM and CMD have become more blurred as genetic testing and additional r...
Source: PediatricEducation.org - January 17, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Neuromuscular Disorders in the Intensive Care Unit
This article discusses the pathophysiology, presentation, diagnosis, treatment, and prognosis of common neuromuscular disorders seen in the intensive care unit, including Guillain-Barré syndrome, myasthenia gravis, and intensive care unit–acquired weakness. RECENT FINDINGS Guillain-Barré syndrome can have an excellent prognosis if patients are diagnosed early, appropriately treated, and monitored for complications, including respiratory failure and dysautonomia. Intensive care unit–acquired weakness increases overall mortality in patients who are critically ill, and distinguishing between critical illness myop...
Source: CONTINUUM: Lifelong Learning in Neurology - October 1, 2021 Category: Neurology Tags: REVIEW ARTICLES Source Type: research