research Polycystic Ovarian Syndrome - What is New
PCOS management includes lifestyle changes and medications to improve fertility.
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research 137 Loss of myeloid Mcpip1 suppresses hair growth and development of epidermal papilloma of the skin
Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Comprehensive Survey of Gut Microbiome Associations with Health Conditions in the Human Phenotype Project
Certain gut microbes are linked to better health in 14 conditions.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research What Is the Male Polycystic Ovary Syndrome Phenotype?
Men can have genetic risks for PCOS-related traits like obesity and diabetes.
research Poly Cystic Ovarian Syndrome is a Disease of Ovary that Can Causes Cyst
PCOS causes hormonal imbalance, irregular periods, and can lead to obesity.
research Targeting the Hypoxic Microenvironment in Cutaneous Chronic Graft-Versus-Host Disease through PI3Kδ Inhibition
PI3Kδ inhibition may effectively treat cutaneous chronic graft-versus-host disease.
research Case number 19th of perforating necrobiosislipoidica worldwide
The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
research Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe
A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
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 Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research The Contribution of the Intestinal Microbiota to the Celiac Disease Pathogenesis along with the Effectiveness of Probiotic Therapy
Probiotics may help manage celiac disease by improving gut health and reducing symptoms.
research 6 Current concepts of polycystic ovary syndrome
PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research The Polycystic Ovary Syndrome
The document concludes that Polycystic Ovary Syndrome is a commonly underdiagnosed hormonal disorder in women, diagnosed by specific criteria.
research Potential Therapeutic Targets for Androgenetic Alopecia (AGA) in Obese Individuals as Revealed by a Gut Microbiome Analysis: A Mendelian Randomization Study
Gut bacteria pathways may help treat hair loss in obese people.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research Definitions, prevalence and symptoms of polycystic ovaries and polycystic ovary syndrome
Polycystic ovaries are defined by having 12 or more small follicles in each ovary and are found in up to 33% of women, while Polycystic Ovary Syndrome (PCOS) is the most common hormone disorder in women of reproductive age, potentially increasing risk of obesity, diabetes, and heart diseases.