research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
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120-140 / 140 resultsresearch New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Cosmetic Adverse Effects of Antiseizure Medications: A Systematic Review
Some antiseizure medications can cause cosmetic problems like hair loss, excessive hair growth, acne, and gum overgrowth.
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.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Serum Levels of VWF, t-PA, TNF-α, and ICAM-1 in Patients Receiving Hemocoagulase Combined with Platelet-Rich Plasma During Total Hip Replacement
Using hemocoagulase with platelet-rich plasma in hip replacement can lessen blood loss and improve healing and blood clotting.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Integrative Medicine and Helmet Constructions: Milestones and Perspectives
Helmets used in acupuncture and light therapy can affect brain blood flow, hair growth, and may improve brain diseases and cognitive functions.
research Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research Sodium Valproate Induced Alopecia: A Case Series
Sodium valproate can cause reversible hair loss in some patients.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Asymptomatic SARS-CoV-2 Infection or COVID-19 Vaccination Effect for Severe Multisystem Inflammatory Syndrome in a 6-Year-Old Girl: Case Report and Review of the Literature
COVID-19 vaccination may be linked to MIS-C in children, highlighting the need for quick diagnosis and treatment.
research How Biodegradable Polymers Can Be Effective Drug Delivery Systems for Cannabinoids: Perspectives and Challenges
Biodegradable polymers can improve cannabinoid delivery but need more clinical trials.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Transcranial Focused Ultrasound-Mediated Unbinding of Phenytoin for Suppression of Chronic Temporal Lobe Epilepsy in a Rodent Model
Using focused ultrasound on the brain can help epilepsy medicine work better in rats.
research 25-Year-Old Woman With New-Onset Seizures
A woman's new seizures were caused by a brain tumor likely linked to her past cancer treatment, and choosing safe seizure medications is important for women who can have children.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research The Effect of Finasteride on Anxiety in Rats
research Melatonin in the Skin: Synthesis, Metabolism, and Functions
Melatonin in the skin helps protect against damage from stress and UV rays, and could be used to treat certain skin conditions.