research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
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research Precision therapeutics in non-scarring alopecia: a systemic genomic and pathway-based framework for targeted interventions
Personalized treatments for hair loss focus on specific genetic and biological pathways.
research Study on the mechanism that SNPs related to sex hormone metabolism regulate the imbalance of sex hormones and lead to BPH in rats
Combined finasteride and anastrozole therapy effectively treats BPH, influenced by hormone imbalances and genetics.
research Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi
Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
research KINEMATIC ALIGNMENT TECHNIQUE IN TOTAL KNEE ARTHROPLASTY CHANGES FEMORAL SIZING
Kinematic alignment in knee surgery often requires smaller femoral components than mechanical alignment.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Female pattern hair loss: A comprehensive review
FPHL is common in women, influenced by genetics and hormones, and can be treated with medications, laser therapy, or hair transplantation.
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Hirsutism and virilisation.
Hirsutism is common body hair growth due to genetics and hormones, and while not a disease, it can be distressing; virilisation includes hirsutism with other male traits and needs medical attention.
research Why were Sardinians the shortest Europeans? A journey through genes, infections, nutrition, and sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Cross-Sectional Study of Hairline Shape among the Idoma People of Benue State, Nigeria
Most Idoma people have a curved hairline due to genetics.
research The Changing Landscape of Alopecia Areata: The Translational Landscape
New treatments for hair loss are showing promise due to better understanding of genetics and the immune system.
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 Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
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 Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Skin diseases associated with atopic dermatitis
People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
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 Consequences of steroid-5α-reductase deficiency and inhibition in vertebrates
Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
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 Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Cutaneous Tumours of Pilar Origin with Associated Syndromes
Some skin tumors from hair follicles and glands can be linked to genetic syndromes and may be benign or malignant.
research Clinical Snippets
Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
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 The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research PCOS in adolescents
PCOS in teens is hard to diagnose, linked to genetics and lifestyle, and managed with weight loss and medication.