research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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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 The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
research Angle closure in fellow eye with prophylactic pilocarpine treatment
research Recurrent pseudolymphomatous reaction to ear piercing: 20-year history
A woman had a rare reaction to ear piercing that caused earlobe swelling, which was best treated by removing the piercing and not re-piercing.
research Rare case of recurrent hair in the floor of the mouth
Hair grew in a man's mouth due to a rare condition called heterotopia.
research Role of Leukocyte–Platelet-Rich Fibrin in Endoscopic Endonasal Skull Base Surgery Defect Reconstruction
Using L-PRF membranes for skull base surgery might help healing, but more research is needed.
research Complex Scalp Reconstruction with Super Thin DIEP Free Flap
A super thin DIEP flap can effectively reconstruct scalp defects with good skin coverage and contour.
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research DHT deficiency perturbs the integrity of the rat seminiferous epithelium by disrupting tight and adherens junctions
DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Matrix effects and application of matrix effect factor
Matrix effects in LC-MS can be managed but not completely avoided.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Systematic Review—The Potential Implications of Different Platelet-Rich Plasma (PRP) Concentrations in Regenerative Medicine for Tissue Repair
A PRP concentration of 1.0 × 10^6 plt/μL is best for tissue repair.
research Advice on the safe introduction and continued use of isotretinoin in acne in the U.K. 2010
Isotretinoin is effective for severe acne but requires careful monitoring for side effects, especially in women who could become pregnant.
research K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) Represent the Type I Inner Root Sheath Keratins of the Human Hair Follicle
K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.
research Directed Expression of Keratin 16 to the Progenitor Basal Cells of Transgenic Mouse Skin Delays Skin Maturation
Keratin 16 delays skin maturation and affects skin and hair development in mice.
research Immune Privilege Collapse and Alopecia Development: Is Stress a Factor
Stress may trigger hair loss by affecting immune protection in hair follicles.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin
Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Current Status of PRP Manufacturing Requirements & European Regulatory Frameworks: Practical Tools for the Appropriate Implementation of PRP Therapies in Musculoskeletal Regenerative Medicine
Standardizing PRP therapy practices and regulations in Europe is crucial for safe and effective treatment.
research British Association of Dermatologists living guideline for managing people with alopecia areata 2024
The guideline provides recommendations for managing alopecia areata effectively.
research British Association of Dermatologists guidelines for the management of people with cutaneous lupus erythematosus 2021
Use antimalarials like hydroxychloroquine for cutaneous lupus, avoid herbal supplements, and focus on lifestyle changes like sun protection.
research A Review on the Form and Complexity of Human–Robot Interaction in the Evolution of Autonomous Surgery
Human-robot interaction becomes simpler as robots achieve full autonomy in surgery.
research Fibroblast Growth Factor-9 Activates c-Kit Progenitor Cells and Enhances Angiogenesis in the Infarcted Diabetic Heart
Fibroblast Growth Factor-9 helps repair heart damage after a heart attack by creating new blood vessels, especially in diabetics.
research Distinct tooth regeneration systems deploy a conserved battery of genes
Different species use the same genes for tooth regeneration.
research Mechanisms of proton inhibition and sensitization of the cation channel TRPV3
Acid can block TRPV3 from outside the cell but boost its function from inside.