research Hair Loss in Infancy and Childhood
The document concludes that understanding hair biology and recognizing hair conditions are crucial for managing and treating hair loss in children.
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research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Importance Of A Multi-Tiered Treatment Approach For Intellectually And Developmentally Disabled Patients With Hidradenitis Suppurativa
A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disorders.
research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Alopecia Areata of Eyelashes: Regrowth After Injecting Triamcinolone Into the Eyebrow Area
Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.
research A Comparison of Vertical Versus Transverse Sections for the Histopathologic Diagnosis of Alopecias
Transverse sections are better for non-scarring hair loss, vertical sections are better for lichen planopilaris, and either method works for other scarring hair loss types.
research Androgen Action in the Ovary
Androgens are important for normal ovarian function and estrogen production, but may not be the main cause of follicle death.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7
The guidelines recommend informed consent for gender-affirming treatments and stress the importance of personalized, culturally sensitive care for transgender individuals.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Presence of Polycystic Ovary Syndrome Is Associated with Longer Anogenital Distance in Adult Mediterranean Women
Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
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 Follicular Unit Extraction Method of Hair Transplantation: Technique, Advantages and Limitations
The follicular unit extraction method for hair transplants is a technique with benefits and drawbacks.
research Importance Of A Multi-Tiered Treatment Approach For Intellectually And Developmentally Disabled Patients With Hidradenitis Suppurativa
A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Antagonism of NMDA Receptors as a Potential Treatment for Down Syndrome: A Pilot Randomized Controlled Trial
Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
research Southern African HIV Clinicians Society Gender-Affirming Healthcare Guideline for South Africa
The guideline provides healthcare professionals in South Africa with instructions for comprehensive, multidisciplinary gender-affirming care, including HIV prevention and treatment for transgender and gender diverse individuals.
research Seizure Control and Side-Effect Profile After Switching Adult Epileptic Patients from Standard to Extended-Release Divalproex Sodium
Switching to extended-release divalproex sodium improved patient-reported tremor but did not change seizure frequency or most side effects.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.