research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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research Hair Loss Among a Group of Egyptian Children
Fungal infection was the main cause of hair loss in Egyptian children studied.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Syphilis: Today
Syphilis is becoming more common and remains a major health problem due to challenges in prevention and treatment.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment
The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
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 Can Gut Flora Changes Be New Biomarkers for Depression?
Gut flora changes could potentially indicate depression, but more research is needed.
research Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research IL-33 Contributes to the Pathological Changes of Hair Follicles in Psoriasis: A Potential Target for Psoriatic Alopecia
IL-33 is linked to hair follicle damage in psoriasis and could be a treatment target for hair loss in this condition.
research Concept of Tinea Capitis
Terbinafine is the most effective treatment for tinea capitis, a scalp infection often confused with other conditions.
research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Anti-Ku Antibodies: Much More Than Scleromyositis
Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
research The Rotterdam Study: 2016 Objectives and Design Update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Severe Acute Respiratory Syndrome (SARS)
The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
research Genome-Wide Association Study of Skin Complex Diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Management of Endocrine Disease: Hyperandrogenic States in Women - Pitfalls in Laboratory Diagnosis
Diagnosing hyperandrogenism in women is complex and requires accurate testing methods and consideration of SHBG levels.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Sustained Exosome-Guided Macrophage Polarization Using Hydrolytically Degradable PEG Hydrogels for Cutaneous Wound Healing: Identification of Key Proteins and miRNAs, and Sustained Release Formulation
Hydrogel with M2-derived exosomes improves wound healing by slowly releasing exosomes that help reduce inflammation and promote tissue repair.
research Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Selective Janus Kinase 1 Inhibition Resolves Inflammation and Restores Hair Growth Offering a Viable Treatment Option for Alopecia Areata
Blocking Janus kinase 1 helps stop inflammation and regrow hair, making it a good treatment for hair loss from alopecia areata.
research Investigation of Hub Genes and Immune Infiltration in Androgenetic Alopecia Using Bioinformatics Analysis
Immune activities and specific genes are important in male pattern baldness.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Bifidobacterium Is Enriched in Gut Microbiome of Kashmiri Women with Polycystic Ovary Syndrome
Women with PCOS have more Bifidobacterium in their gut compared to those without PCOS.
research Identification of Potential Biomarkers for Diagnosis of Patients with Methamphetamine Use Disorder
Gene expression in hair follicles can help diagnose methamphetamine use disorder.
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 The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.