research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
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research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Shedding Light on Cashmere Goat Hair Follicle Biology: From Morphology Analyses to Transcriptomic Landscape
The research found genes that change during cashmere goat hair growth and could help determine the best time to harvest cashmere.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Hair Microscopy: An Easy Adjunct to Diagnosis of Systemic Diseases in Children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
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 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 Joint Public Review: Touch Receptor End-Organ Innervation and Function Require Sensory Neuron Expression of the Transcription Factor Meis2
Meis2 is essential for touch sensation and nerve function in mice.
research Author Response: Touch Receptor End-Organ Innervation and Function Require Sensory Neuron Expression of the Transcription Factor Meis2
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
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 Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Proceedings of the Ninth World Congress for Hair Research 2015
The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.
research Global Burden of Skin Disease as Reflected in Cochrane Database of Systematic Reviews
The representation of skin conditions in medical reviews partly matches their real-world impact.
research Ankle Range of Motion, Leg Pain, and Leg Edema Improvement in Patients With Venous Leg Ulcers
Compression therapy improved ankle movement, reduced leg swelling, and lessened pain in patients with venous leg ulcers.
research Alopecia Areata: A Comprehensive Review of Pathogenesis and Management
New treatments for Alopecia Areata show promise but need to be more effective and affordable.
research Antihelminthic Drugs: Impact, Challenges, and Efficacy
Antihelminthic drugs treat worm infections but face challenges like low treatment coverage and potential drug resistance, with various side effects reported for different drugs.
research Antiandrogen Therapy with Spironolactone for the Treatment of Hidradenitis Suppurativa
Spironolactone helps reduce pain and lesions in hidradenitis suppurativa patients, and lower doses are also effective.
research How to Speak Postmodern: Medicine, Illness, and Cultural Change
The document suggests medicine should integrate biological and cultural factors and focus on holistic, equitable care.
research Profile of Dermatological Consultations in Brazil (2018)
In Brazil in 2018, the most common skin issues were acne, photoaging, and nonmelanoma skin cancer, with treatments often including topical medications and sunscreen.
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 Addressing Continuous Data for Participants Excluded from Trial Analysis: A Guide for Systematic Reviewers
The conclusion is that the risk of losing significance in meta-analysis results increases with smaller effects and more missing data, and using the median standard deviation for imputation is recommended.