research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
Search
for
Sort by
Research
840-870 / 1000+ resultsresearch Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Metabolic syndrome in Greek women with polycystic ovary syndrome: prevalence, characteristics and associations with body mass index. A prospective controlled study
Greek women with PCOS have a higher risk of metabolic syndrome and are more likely to be overweight compared to healthy controls.
research Clinical and laboratory indicators of polycystic ovary syndrome in Chinese Han nationality with different Rotterdam criteria-based phenotypes
Different types of PCOS in Chinese Han women show varying levels of male hormone and metabolic issues.
research Wanita dengan Sindrom Rupus : Lupus Eritematosus Sistemik dan Artritis Reumatoid
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Stanowisko Polskiego Towarzystwa Endokrynologicznego, Polskiego Towarzystwa Ginekologów i Położników oraz Polskiego Towarzystwa Endokrynologii Ginekologicznej w sprawie diagnostyki i leczenia zespołu policystycznych jajników
Polish medical societies recommend personalized treatment for PCOS based on the patient's specific symptoms and use the Rotterdam criteria for diagnosis.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Severe Hyperandrogenism in A Premenopausal Woman With An Imaging-Negative Leydig Cell Tumor
A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
research Criteria for Diagnosis of Polycystic Ovary Syndrome during Adolescence: Literature Review
Diagnose PCOS in teens using irregular periods and high androgen levels, not ultrasound.
research Does a male polycystic ovarian syndrome equivalent exist?
Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
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 Precocious Pubarche in a 7-Year-Old Patient. A Case Report
A 7-year-old girl developed early pubic hair growth without other puberty signs, diagnosed as isolated premature pubarche.
research Full investigation of patients with polycystic ovary syndrome (PCOS) presenting to four different clinical specialties reveals significant differences and undiagnosed morbidity
Many women with PCOS have undiagnosed health issues and show different symptoms based on the clinic they visit.
research Divergences in insulin resistance between the different phenotypes of the polycystic ovary syndrome
Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
research REPRODUCTIVE HORMONE LEVELS AND METABOLIC SYNDROME IN WOMEN WITH POLYCYSTIC OVARY SYNDROME IN SANA'A, YEMEN
PCOS is linked to hormone disorders and issues like infertility and irregular periods.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa
A rare genetic condition can mimic symptoms of other diseases, making diagnosis challenging.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Genetics Poly Cystic Ovary Syndrome
PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research DERMATOLOGICAL MANIFESTATIONS OF POLYCYSTIC OVARY SYNDROME
PCOS often causes skin issues like excess hair, acne, and hair loss, needing early treatment.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research Examination of premenstrual syndrome in patients with polycystic ovary syndrome
Women with PCOS often have severe PMS, but managing anemia and regular menstruation can help reduce symptoms.
research Benign Mucous Membrane Pemphigoid
A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research A Prospective Open Labelled Phase-II Non Randomized Clinical Trial On “Karunjchirakam Chooranam” for Raktha Soorai Vaayu (Poly Cystic Ovarian Syndrome)
Karunjchirakam Chooranam significantly improved symptoms in most PCOS cases.
research miR-761-hepcidin/Gpx4 pathway contribute to unexplained liver dysfunction in polycystic ovary syndrome by regulating liver iron overload and ferroptosis
Liver damage in PCOS is linked to iron overload and cell death due to the miR-761-hepcidin/GPX4 pathway.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.