research AB0163 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.
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research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Shared decision-making in central centrifugal cicatricial alopecia
Patients with central centrifugal cicatricial alopecia benefit from shared decision-making with their doctors.
research Pharmacological Inhibition of Stearoyl CoA Desaturase in the Skin Induces Atrophy of the Sebaceous Glands
Blocking SCD1 in the skin with XEN103 shrinks sebaceous glands in mice.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Dysmorphic Concern Questionnaire: Greek Translation, Validation and Psychometric Properties
The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research Human Hair Growth in Health and Disease.
Androgens play a key role in hair growth.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Phase II Evaluation of VDC ‐1101 in Canine Cutaneous T‐Cell Lymphoma
VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.
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 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
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.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Vertex balding, plasma insulin-like growth factor 1, and insulin-like growth factor binding protein 3
Men with balding at age 45 had higher IGF-1 and lower IGFBP-3, suggesting these factors might be important in male pattern baldness.
research Vertex balding, plasma insulin-like growth factor 1, and insulin-like growth factor binding protein 3
Men with balding at age 45 had higher IGF-1 and lower IGFBP-3 levels, suggesting these factors might influence male pattern baldness.
research Erbium YAG Laser in the Treatment of Androgenetic Alopecia
Erbium YAG laser treatment, combined with conventional therapy, can effectively reduce hair loss and promote hair growth in men with androgenetic alopecia.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research En Coup de Sabre in a Pediatric Patient Treated With Calcipotriene
Calcipotriene ointment improved a child's skin condition known as En coup de sabre.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Human Hair Follicle Stem/Progenitor Cells Express Hypoxia Markers
Human hair follicle stem cells show signs of low oxygen levels, which may be important for hair growth and preventing baldness.
research Effects of Fibroblast Transplantation on the Content of Macrophages and the Morphology of Regenerating Ischemic Cutaneous Wounds
Fibroblast transplantation improves wound healing, with dermal equivalents slightly enhancing skin regeneration.
research PCOS and Hyperprolactinemia: Conflicting Conditions or Comorbidities?
Hyperprolactinemia should be treated before confirming a PCOS diagnosis.