research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
Search
for
Sort by
Research
420-450 / 1000+ results research Pyruvate Kinase M2 Role in Cardiovascular Repair
PKM2 is a promising target for heart repair and regeneration.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Editorial: Mechanisms and novel treatments of muscle wasting
High-dose testosterone with finasteride improves muscle health in males with spinal cord injury.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Mitochondrial dysfunction as a cause of ageing
Mitochondrial dysfunction was implicated in the ageing process, with age-related accumulation of somatic mitochondrial DNA (mtDNA) mutations and decline in respiratory chain function observed in mammals. This dysfunction affected only a subset of cells in tissues like the heart, skeletal muscle, colonic crypts, and neurons. Studies on mtDNA mutator mice demonstrated that increased somatic mtDNA mutations could directly cause ageing phenotypes such as osteoporosis, hair loss, greying hair, weight reduction, and decreased fertility. Although mitochondrial dysfunction was often linked to increased reactive oxygen species (ROS) generation, experimental evidence for this was weak, as mice with mtDNA mutations showed little to no increase in oxidative stress. While mitochondrial dysfunction was clearly involved in human ageing, its overall significance in mammalian ageing was yet to be fully determined.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research Poster 147 Determination of Individual in Vivo Hip Muscle Forces Using an EMG‐to‐Force Processing Model
The EMG-to-force model accurately predicts hip muscle forces during walking.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research DP10 Scalp disease in dermatomyositis
Scalp disease in dermatomyositis causes significant symptoms and has unique features.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Analysis of a multiple nuclear dots pattern in a large cohort of dermatological patients.
Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Author response: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
SMAD4 is crucial for muscle repair in young adults but not in aged mice.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research 0960 Evidence for resident memory T cells and necroptosis as drivers of fibrosis in eosinophilic fasciitis and morphea
Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
research Efficacy and tolerability of azathioprine for neuromyelitis optica spectrum disorder: A systematic review and meta-analysis
Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research The eosinophilia-myalgia syndrome
Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.
research Synaptic‐like vesicles and candidate transduction channels in mechanosensory terminals
SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Use of Rituximab for Dermatomyositis Over Conventional Therapy: A Case Report
Rituximab improved her dermatomyositis better than usual treatments.
research [A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Neurotoxins Acting at Synaptic Sites: A Brief Review on Mechanisms and Clinical Applications
Neurotoxins can affect neurotransmitter release and have potential in treating muscle, pain, and cancer conditions, but more research is needed on how they work.