research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
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research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research References
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Sarcoidosis in Polo Ponies: Case Study of Argentine-Cross Breeds
Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Pilomatricoma with Florid Osseous Metaplasia: A Cytologist’s Perspective
A rare skin tumor with bone formation was successfully removed without recurrence.
research Giant Congenital Blue Nevus Presenting as Cutis Verticis Gyrata: A Case Report and Review of the Literature
Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Pilomatricoma in the Infraorbital Region
Pilomatricoma is a rare, harmless skin lump that needs accurate diagnosis and timely treatment.
research Solitary, subcutaneous, fixed, firm, and fast-growing nodule
A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Endocrine Treatment of Transsexual Persons:An Endocrine Society Clinical Practice Guideline
The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
research The Neurobiology of Sexual Function
Testosterone is important for men's sexual function, may help some women's sexual desire, while other hormones and neurotransmitters also play complex roles in sexual behavior.
research Genetic, hormonal and metabolic aspects of PCOS: an update
The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
research The British Society for Rheumatology guideline for the management of systemic lupus erythematosus in adults
The guidelines suggest a detailed approach to diagnosing and treating lupus, with a focus on regular check-ups, personalized medicine, and a range of drug options for different cases.
research Differential Expression of Fibromodulin, a Transforming Growth Factor-β Modulator, in Fetal Skin Development and Scarless Repair
Fibromodulin might help reduce scarring if increased in adult wounds like in fetal skin that heals without scars.
research Hormone replacement therapy and the skin
Estrogen replacement can improve skin health in menopausal women but doesn't reverse sun damage or prevent hair loss.
research A New Look at the 5?-Reductase Inhibitor Finasteride
Finasteride treats enlarged prostate and hair loss, but may cause side effects in some patients.
research Hypersensitivity reactions to anticoagulant drugs: diagnosis and management options
Allergic reactions to blood thinners are rare but can be serious, requiring careful testing and alternative treatments.
research Neurosteroidogenesis Today: Novel Targets for Neuroactive Steroid Synthesis and Action and Their Relevance for Translational Research
New targets for making and using brain-synthesized steroids could lead to better treatments for brain disorders and alcoholism.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research Ketoconazole Shampoo: Effect of Long-Term Use in Androgenic Alopecia
Ketoconazole shampoo improves hair growth and reduces oil similarly to minoxidil in male pattern hair loss.
research An Open, Randomized, Comparative Study of Oral Finasteride and 5% Topical Minoxidil in Male Androgenetic Alopecia
Oral finasteride works better than topical minoxidil for hair growth, both are safe.
research TrichoScan: A Novel Tool For The Analysis of Hair Growth In Vivo
TrichoScan is a reliable method for measuring hair growth and is useful for assessing hair loss treatments.
research Combined Sabal and Urtica extract vs finasteride in BPH (Alken stage I–II)
Sabal and Urtica extract works as well as finasteride for treating BPH, with fewer side effects.
research Endocrine Therapy–Induced Alopecia in Patients With Breast Cancer
Hair loss from hormone therapy in breast cancer patients can be improved with minoxidil treatment.
research Development of Liposomal Systems of Finasteride for Topical Applications: Design, Characterization, and In Vitro Evaluation
Liposomes improve finasteride delivery for hair loss treatment, making it a promising option for topical use.
research Compliance With Contraceptives and Other Treatments
People often struggle to consistently use contraceptives and other medications, and long-acting options might be better for those who want to avoid daily doses.
research TOXIC EPIDERMAL NECROLYSIS
Toxic epidermal necrolysis is a severe skin reaction often linked to drugs, requiring careful medication use and supportive care.