research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
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research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Psychosocial Correlates of Young Females Suffering from Polycystic Ovarian Syndrome (PCOS)
Women with PCOS often feel anxious and distressed about their appearance, especially in social situations.
research Association of Androgenic Alopecia with Metabolic Syndrome
People with male pattern baldness are more likely to have metabolic syndrome.
research Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research 원저 : 안드로겐 탈모증의 임상적 고찰(제7보)
The conclusion is that more women in their forties are getting AGA and stress is linked to AGA in both men and women.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Body image and sexual interests in adolescents and young adults with Prader–Willi syndrome
Adolescents and young adults with Prader-Willi syndrome show a range of sexual interests and behaviors.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Concurrent autoimmune and endocrine dysregulation in polycystic ovary syndrome
Autoimmune markers may help diagnose and manage PCOS.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research Androgenetic alopecia and metabolic syndrome: A cross-sectional study in Northeast India
Androgenetic alopecia may predict metabolic syndrome, so routine screening is recommended to prevent cardiovascular issues.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research The Effectiveness of Forensic Science in the Criminal Justice System - Tasmanian Institute of Law Enforcement Studies (TILES)
Korean adolescents with androgenetic alopecia often have a family history, milder symptoms than adults, and normal hormone levels.
research PREVALANCE OF POLYCYSTIC OVARY SYNDROME (PCOS) AND ITS PHENOTYPES: A CLINICAL ANALYSIS IN SWABI
About 26% of women in Swabi have PCOS, with hyperandrogenism being the most common symptom.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Loose anagen hair syndrome presenting as patchy hypotrichosis – clinico-trichoscopic correlation
Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.
research Risk factors for sebaceous gland diseases and their relationship to gastrointestinal dysfunction in Han adolescents
Gastrointestinal issues are important risk factors for sebaceous gland diseases in Han adolescents.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Síndrome dos ovários policísticos: enfoque psicossocial.
PCOS significantly affects women's quality of life, causing anxiety and social issues, and requires comprehensive care.
research Living with grief: a phenomenological analysis of the lived experience of PCOS
Women with PCOS need more support to cope with isolation, helplessness, and grief, and to build resilience.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Personality Disorders and Psychopathologic Symptoms in Patients With Androgenetic Alopecia
People with androgenetic alopecia have more personality disorders and mental health symptoms; treatment may help.
research Diagnosis of Polycystic Ovary Syndrome
The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.