research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
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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 Transcriptional Profiling in Rat Hair Follicles following Simulated Blast Insult: A New Diagnostic Tool for Traumatic Brain Injury
Hair follicles can help diagnose traumatic brain injury quickly and non-invasively.
research Rule-out test for autism using machine-learning analysis of molecular temporal dynamics in hair - a multicenter study
A machine-learning test using hair can help detect autism early in infants.
research The relationship between keratin 18 and epithelial-derived tumors: as a diagnostic marker, prognostic marker, and its role in tumorigenesis
Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Androgen- and Estrogen-Secreting Adrenal Cancers
Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
research Book Review Pediatric Endocrinology: A Practical Clinical Guide (Contemporary Endocrinology.) Edited by Sally Radovick and Margaret H. MacGillivray. 582 pp., illustrated. Totowa, N.J., Humana, 2003. $165. 0-89603-946-3
The book is a comprehensive and current guide on hair disorders, with minor flaws.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research The use of auto-antibody testing in the evaluation of interstitial lung disease (ILD) – A practical approach for the pulmonologist
Auto-antibody testing is a useful but not definitive tool in diagnosing interstitial lung diseases, and using a specific algorithm could make testing more cost-effective.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Lichen planus
Lichen planus is a skin condition that can resolve on its own, is linked to hepatitis C, and increases the risk of skin cancer.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Urticariform plaques: delayed hypersensitivity reaction type IV to enoxaparin
A woman had a delayed allergic reaction to the blood thinner enoxaparin, treated with a steroid cream.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Diagnostic, Therapeutic, and Theranostic Multifunctional Microneedles
Microneedles are becoming essential tools in medicine for sensing, drug delivery, and communication.
research Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review
Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.
research A guide to diagnosis and management of hypertrichosis
Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
research Editorial: Exploring innovative therapies for rare inflammatory skin diseases
New therapies for rare skin diseases show promise but need more research.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Venous thromboembolism and women's health
Women have a higher risk of blood clots from hormonal factors and need careful treatment, especially during pregnancy.
research Investigating the relationship between the hair fiber proteome and hair quality
Hair quality is genetically determined and linked to its composition and strength.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research Allergens and Irritants
Many substances, including chemicals and metals, can cause skin reactions; careful handling and identification of allergens are crucial to prevent dermatitis.
research Tracking research trends and hotspots in sperm DNA fragmentation testing for the evaluation of male infertility: a scientometric analysis
More research is needed to confirm sperm DNA fragmentation as a reliable tool for diagnosing male infertility.
research Specificity of anti-SSB as a diagnostic marker for the classification of systemic lupus erythematosus
Anti-SSB antibodies are useful for diagnosing systemic lupus erythematosus and are linked to specific symptoms.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.