research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
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930-960 / 1000+ resultsresearch ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Calcitriol-Resistant Rickets With Alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Disease modifying osteoarthritis drug discovery using a temporal phenotypic reporter in 3D aggregates of primary human chondrocytes
Aromoline and DRD4 are potential targets for osteoarthritis treatment.
research Rheumatologic Manifestations of Pregnancy
Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.
research The twisting tale of woolly hair: a trait with many causes
New genes linked to woolly hair have been found, which could help treat it and change hair texture.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Androgenetic alopecia is not associated with increased incidence of cardiovascular disease risk factors: A retrospective cohort study
Androgenetic alopecia doesn't increase the risk of heart-related health issues.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research PCOS and Cardiometabolic Health over the Reproductive Years
PCOS negatively affects women's heart and metabolic health during their reproductive years.
research Clinicopathological characteristics of fibrosing alopecia in a pattern distribution: a single‐center, retrospective study
Younger people are at a higher risk for Fibrosing Alopecia in a Pattern Distribution than previously thought, with common symptoms and possible involvement of mast cells in its development.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Primary cicatricial alopecia associated with systemic indolent mastocytosis
Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
research Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels
KRT71 gene variants may influence camel hair shape but don't fully explain it.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research Case of Waldenstrom Macroglobulinaemia Mimicking Multiple Myeloma: A Diagnostic Challenge
Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
research Intermittent Low-dose Ritlecitinib in Refractory Paediatric Alopecia Areata: A Case Report with Therapeutic Implications
Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
research Association between angiotensin‐converting enzyme gene insertion deletion polymorphism and androgenetic alopecia susceptibility among Egyptian patients: A preliminary case‐controlled study
Certain gene variations may increase the risk of hair loss in Egyptians.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research RhoA promotes epidermal stem cell proliferation via PKN1-cyclin D1 signaling
RhoA helps skin stem cells grow, aiding wound healing.
research Alopecia and cardiovascular events
Early male hair loss might signal higher heart disease risk.