research Understanding Polycystic Ovary Syndrome: A Comprehensive Guide
PCOS is a common hormonal disorder in women that causes various symptoms and health risks, requiring personalized treatment.
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research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research 410 Oral dysbiosis in palmoplantar pustulosis patients with arthro-osteosis
People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth
PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research ApoBDs: a paradigm shift from cellular debris to therapeutic vehicles
ApoBDs, once seen as waste, are now viewed as potential tools for disease treatment and tissue repair.
research Polycystic ovary syndrome: Diagnosis and management
PCOS is managed by lifestyle changes and personalized medication to improve symptoms and fertility.
research POLYCYSTIC OVARIAN SYNDROME - A PROBLEM OF MODERN MEDICINE
PCOS is a major health issue affecting multiple hormone-producing organs.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
research Physiopathology of polycystic ovary syndrome in endocrinology, metabolism and inflammation
PCOS involves hormonal imbalance, cysts, and ovulation issues, affecting health and increasing disease risks.
research 331 Mitochondrial stress contributes to atopic dermatitis
Mitochondrial stress can lead to atopic dermatitis.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research PCOS: Perspectives from a Pediatric Endocrinologist and a Pediatric Gynecologist
The document concludes that early and personalized treatment for PCOS in adolescents is crucial to manage symptoms and prevent long-term health issues.
research Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome
Young girls whose mothers have PCOS may have higher activity of a specific enzyme that could lead to developing PCOS later.
research POLYCYSTIC OVARY SYNDROME: EXPLORING THE ICEBERG OF A LIFELONG SYSTEMIC DISORDER
PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Glycolytic Dysfunction in Granulosa Cells and Its Contribution to Metabolic Dysfunction in Polycystic Ovary Syndrome
Targeting glycolysis may help treat PCOS by improving insulin sensitivity and ovarian function.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.