research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
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180-210 / 1000+ resultsresearch Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management
Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
research Genital Dermatology
Skin changes during pregnancy are common, and non-invasive imaging is safe for monitoring these changes.
research BH04 A global survey to assess practice of laboratory testing in alopecia areata by hair specialists
Dermatologists vary widely in testing practices for alopecia areata, often exceeding guideline recommendations.
research Avaliação dos efeitos da finasterida sobre o desenvolvimento prostático intrauterino e pós-natal inicial de fêmeas e machos do gerbilo da Mongólia ("Meriones unguiculatus")
Finasteride affects prostate development differently in male and female Mongolian gerbils.
research Dermatoses of Pregnancy - Clues to Diagnosis, Fetal Risk and Therapy
The document concludes that specific itchy skin diseases during pregnancy have varying fetal risks and treatments, including corticosteroids and other medications.
research Screening for latent infectious disease in patients with alopecia areata before initiating JAK inhibitors therapy: a single-center real-world retrospective study
Comprehensive screening for infections is crucial before starting JAK inhibitors in alopecia areata patients.
research Reporting on Adverse Clinical Events
Monitoring for adverse effects in clinical treatments is crucial.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Caring for transgender populations: A primer for the dermatopathologist
Dermatopathologists must consider both birth sex and gender identity to accurately diagnose and treat transgender patients.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research Neonatal finasteride administration alters hippocampal α4 and δ GABAAR subunits expression and behavioural responses to progesterone in adult rats
research High‐dose pulsed corticosteroid therapy combined with methotrexate for severe alopecia areata of childhood
High-dose corticosteroids and methotrexate had a modest effect on severe childhood alopecia, but side effects and relapse were concerns.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Uterine transplantation in transgender women
Uterine transplants for transgender women are feasible but need more research.
research Postgraduate seminar in pediatric dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research METHOTREXATE FOR GENERALIZED PUSTULAR PSORIASIS IN A 2-YEAR-OLD CHILD
Methotrexate effectively treated a 2-year-old's generalized pustular psoriasis without side effects.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Trichological disorders in organ transplant recipients (OTRs): a literature review
Hair disorders in organ transplant patients are often underestimated and need more attention and research.
research The Distribution of Preputial Vessels at Different Severity of Rat Congenital Hypospadias Model
Micro-CT helps identify suitable areas for surgical procedures based on blood vessel distribution in hypospadias-affected rats.
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 POS1510-HPR NUTRITIONAL STATUS AND DIETARY INTAKE ASSESSMENT IN PREGNANT WOMEN WITH RHEUMATIC DISEASES
Pregnant women with rheumatic diseases often have poor nutrition, needing more folic acid, calcium, and iron, while consuming too much selenium.
research Strategy for Generating Blinded Evidence for Single-Arm Trials with External Controls Using Expert Review of Home Video
A new method uses expert reviews of home videos to objectively assess children's developmental milestones in single-arm trials.
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 Referee report. For: Drug utilization pattern and adverse drug reactions of chemotherapy in pediatric patients at Muhimbili National Hospital, Tanzania [version 1; peer review: 1 approved, 1 approved with reservations]
Most pediatric cancer patients at Muhimbili National Hospital experienced adverse drug reactions during chemotherapy, highlighting the need for careful monitoring.