research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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30 / 229 resultsresearch Antiretroviral Nucleoside and Nucleotide Analogues and Mitochondria
Some HIV treatments can harm mitochondria, potentially causing side effects like lactic acidosis and nerve damage.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Symptoms of Chronic Ketosis in Cows and Morphobiochemical Indicators of Blood
Chronic ketosis in cows causes appetite changes, anemia, skin issues, increased pulse, and biochemical imbalances.
research Metformin: An Old Medication of New Fashion: Evolving New Molecular Mechanisms and Clinical Implications in Polycystic Ovary Syndrome
Metformin helps manage polycystic ovary syndrome by improving insulin resistance and ovulation, but more research is needed on its full effects.
research Biotinidase Deficiency: A Survey of 10 Cases
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Intracellular Protons Accelerate Aging and Activate Aging Hallmarks in Mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research Paraphenylenediamine Hair Dyeing Nephropathy: A Case Report and Review of Literature
Hair dye chemicals can cause serious health problems, including kidney damage.
research Metformin or Thiazolidinedione Therapy in Polycystic Ovary Syndrome?
Metformin and thiazolidinediones are similarly effective for PCOS, but metformin is often preferred due to fewer side effects.
research Diagnosis and Treatment of Methylmalonic Acidemia in 14 Cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Understanding the Role of Glycogen Metabolism in Human Hair Follicle Biology
Glycogen metabolism is important for energy and processes in human hair follicles, and hair follicles may produce glucose from lactate.
research Renal Tubular Dysfunction Presenting as Recurrent Hypokalemic Periodic Quadriparesis in Systemic Lupus Erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Alopecia as a Symptom of Neonatal Lupus
Alopecia can be a symptom of Neonatal Lupus.
research De Novo Mutation in the Mitochondrial tRNA Leu(UUR) Gene (A3243G) with Rapid Segregation Resulting in MELAS in the Offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Biochemical Changes and Liver Tissue Pathology in Weanling Wistar Albino Rats with Protein-Energy Malnutrition
Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
research A Patient With Insulin-Dependent Diabetes Mellitus 1 Year After Being Diagnosed With Membranous Glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research A Hot New Twist to Hair Biology: The Role of TRPV1 in Human Hair Growth Control
Capsaicin, found in chili peppers, can slow down hair growth by affecting skin cells and hair follicles.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Biotin-Responsive Alopecia and Developmental Regression
Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
research Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Cutaneous Findings in Patients with Predialysis Chronic Kidney Disease
Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
research A Histological and Clinical Evaluation of Plasma as a Graft Holding Solution and Its Efficacy in Hair Growth and Graft Survival
Plasma is better than Ringer's lactate for hair graft survival and growth after transplantation.
research Specific Interpretation of Hair Concentrations in Two Fatal Metformin Intoxication Cases
Hair analysis showed very high metformin levels in two fatal overdose cases, suggesting it's useful in forensics but sweat may affect results.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Perspectives on Dermatopathology
Dermatopathology has made significant progress but many skin diseases remain incurable, requiring ongoing research.
research Acute Pancreatitis Following Finasteride Toxicity: A Rare Case Report
Finasteride overdose can cause acute pancreatitis.
research The Multiple Uses of Azelaic Acid in Dermatology: Mechanism of Action, Preparations, and Potential Therapeutic Applications
Azelaic acid treats acne, rosacea, and hyperpigmentation with minimal side effects.
research Intracranial Hypertension Secondary to Low Doses of Vitamin A
Long-term low-dose Vitamin A intake may cause increased brain pressure.
research Is There Any Correlation Between Breathing Rate and Premature Greying of Hair?
No link between how fast you breathe and early grey hair was found.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.