research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
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30 / 262 results research Biological Features Implies Potential Use of Autologous Adipose-Derived Stem/Progenitor Cells in Wound Repair and Regenerations for the Patients with Lipodystrophy
Adipose-derived stem cells can help repair tissue in lipodystrophy patients.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Treatment of Lipodystrophy with Troglitazone
Troglitazone increases subcutaneous fat in lipodystrophy patients.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Anterior neck fat deposition in lipodystrophy syndrome; a new variant on a theme?
A new form of lipodystrophy in HIV patients causes neck fat buildup.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Peroxisome proliferator-activated receptors (PPARs) and PPAR agonists: the ‘future’ in dermatology therapeutics?
PPAR agonists show promise for skin conditions but need more research before being a main treatment.
research Adverse Drug Reactions in HIV/AIDS Patients on Highly Active Antiretro Viral Therapy: A Review of Prevalence
ART for HIV/AIDS can cause side effects but is crucial for managing the infection.
research Diabetes and Skin — A Review
Diabetes often causes various skin problems and complications.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Tissue fibrosis associated depletion of lipid‐filled cells
Fibrosis causes loss of important fat cells, affecting tissue function.
research Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice
Increasing neuropeptide Y in the brain can slow aging signs in mice.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research The transcription elongation factors Spt4 and Spt6 promote dermal adipocyte differentiation
Spt4 and Spt6 are essential for fat cell development.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Skin disorders in diabetes mellitus
Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Treatment of acne with intermittent isotretinoin, cohort study
Intermittent isotretinoin can cause various skin, hair, and nail changes.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.