research Polycystic Ovary Syndrome
PCOS is a common hormonal disorder in women that can lead to various health issues and requires comprehensive management.
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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 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Androgen excess: a hallmark of polycystic ovary syndrome
Excess androgens may cause PCOS, not just be a symptom.
research Polycystic Ovary Syndrome
PCOS is a genetic disorder affecting women's reproductive health, with treatments focused on symptoms like insulin resistance and fertility.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Do Different Diagnostic Criteria Impact Polycystic Ovary Syndrome Diagnosis for Adolescents?
Different diagnostic criteria greatly affect PCOS diagnosis rates in teenagers.
research Insulin resistance and its relationship with high molecular weight adiponectin in adolescents with polycystic ovary syndrome and a maternal history of polycystic ovary syndrome
Teens with PCOS and a mom with PCOS have higher insulin resistance and lower adiponectin levels, which could signal early metabolic problems.
research Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Polycystic Ovarian Syndrome (PCOS)
PCOS is a hormonal disorder in women with no cure, managed by medication and lifestyle changes.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research A Comprehensive Approach in Diagnosing the Polycystic Ovary Syndrome
The document concludes that diagnosing PCOS requires a thorough approach, considering various symptoms and risks, and calls for improved methods to identify PCOS types and prevent diabetes.
research Biomarker development for PCOS diagnosis
Creating specific biological indicators is important for early detection and treatment of PCOS.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Μελέτη του επιπολασμού της υπερανδρογοναιμίας σε Ελληνίδες γυναίκες με σύνδρομο πολυκυστικών ωοθηκών με βάση τα δύο διαφορετικά κριτήρια διάγνωσης (NIH 1990, Rotterdam 2004)
Accurate diagnosis of PCOS requires comprehensive androgen measurement.
research Raising threshold for diagnosis of polycystic ovary syndrome excludes population of patients with metabolic risk
Changing the diagnosis criteria for PCOS might miss women at risk for related health issues.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research An Expert System for Clinical Risk Assessment of Polycystic Ovary Syndrome under Uncertainty
The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Oxytocin receptor expression in hair follicle stem cells of valproic acid-induced rat model of autism: Insights for autism spectrum disorder
Oxytocin receptor changes in hair cells may help identify autism, especially in males.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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 AN UPDATED OVERVIEW OF POLYCYSTIC OVARY SYNDROME
Polycystic Ovary Syndrome (PCOS) is a hormonal disorder in women that can cause infertility and other health issues, and it may be improved by treatments that increase insulin sensitivity.
research Dermal EZH2 simultaneously orchestrates Wnt/β-catenin signaling dependent dermal differentiation and retinoic acid signaling dependent epidermal proliferation during murine skin development
Ezh2 controls skin development by balancing signals for dermal and epidermal growth.