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The document is a detailed medical reference on skin and genetic disorders.
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research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Polycystic ovary syndrome: etiology, pathogenesis and diagnosis
The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Clinical case of alopecia totalis in pediatric practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research The Rotterdam Study: 2014 objectives and design update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
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.
research Hypertension and aldosterone levels in women with early-onset androgenetic alopecia
Women with early hair loss have higher blood pressure and aldosterone; screening and treatment may help.
research Pyrene Excimer Nucleic Acid Probes for Biomolecule Signaling
Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Managing polycystic ovary syndrome in primary care
Primary care for PCOS focuses on lifestyle changes, medication based on symptoms, and mental health, with diabetes screening and specialist referral for severe cases.
research Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Beyond the Follicle: Exploring Psychiatric Comorbidities in Androgenetic Alopecia
Androgenetic alopecia patients often experience higher rates of depression and anxiety, suggesting mental health screening before finasteride treatment.
research Karsinoma Nasofaring: Faktor Risiko, Deteksi Dini, Diagnosis, dan Tata Laksana
Nasopharyngeal carcinoma is a common cancer in Indonesia, with risk factors including genetics, diet, and Epstein-Barr virus, and is treated with advanced radiotherapy.
research The Skin at Different Ages
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
research Early-onset Male Androgenetic Alopecia and Metabolic Syndrome: Are They Associated?
Early balding in men is linked to metabolic syndrome, so screening is important for prevention.
research Association between androgenetic alopecia and cardiovascular risk factors according to BASP classification in Korean androgenetic alopecia
Korean patients with androgenetic alopecia may have a higher risk of heart-related health issues and could benefit from early heart screening and healthier lifestyles.
research ACOG Practice Bulletin No. 108: Polycystic Ovary Syndrome
The bulletin provides guidelines for diagnosing and managing PCOS, suggesting weight loss, hormonal contraceptives, and diabetes screening, with clomiphene for infertility and various treatments for excess hair.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.
research The diagnosis and treatment of iron deficiency and its potential relationship to hair loss
Iron deficiency may be related to hair loss, but there's not enough evidence to recommend iron screening or supplements for all hair loss patients.
research Stem Cell Heterogeneity and Plasticity in Epithelia
Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
research Relationship between androgenetic alopecia and cardiovascular risk factors according to BASP classification in Koreans
Hair loss links to high blood pressure, high fat levels, and metabolic issues, suggesting early heart disease screening.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Women’s Health Considerations for Lipid Management
The conclusion is that managing cholesterol is important for women, especially during pregnancy, breastfeeding, and with PCOS, and involves regular screening and careful treatment choices.