research Left Ventricular Function in Patients with Polycystic Ovary Syndrome: A Doppler Echocardiographic Study
Young women with PCOS without additional risk factors may have normal heart function.
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research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Severe Hirsutism in Non Classic Congenital Adrenal Hyperplasia: A Case Report and Literature Review
The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research IDIOPATHIC HYPOPARATHYROIDISM; A REPORT OF 2 CASES
Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Cardiovascular risk factors and events in women with androgen excess
Women with androgen excess, especially those with PCOS, have a much higher risk of heart disease and stroke.
research Correlating Cicatricial Alopecia and Cardiovascular Risk: Emerging Insights
People with Primary Cicatricial Alopecia have a higher risk of heart disease.
research Benign Prostatic Hyperplasia: A Disorder of Androgen Metabolism in the Male
Benign Prostatic Hyperplasia may be caused by changes in how the body processes male hormones.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
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 SAT-358 Hypercalcemia-Induced Altered Mental Status as the Primary Manifestation of Classic Hodgkin Lymphoma
An 87-year-old man showed unusual signs of Hodgkin lymphoma, primarily high calcium levels, which improved after treatment and revealed the disease.
research SUN-105 A Classic Case of Ovarian Hyperthecosis
Ovarian hyperthecosis can cause high testosterone and symptoms like hair loss, and surgery can help improve these symptoms.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
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 Isoproterenol directs hair follicle-associated pluripotent (HAP) stem cells to differentiate in vitro to cardiac muscle cells which can be induced to form beating heart-muscle tissue sheets
Isoproterenol helps hair follicle stem cells turn into beating heart muscle cells.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research A Case of pretibial myxedema with hyperthyroidism
The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
research Myxedema Coma and Acute Hepatopathy in a Dog with Severe Atherosclerosis
The dog died from myxedema coma linked to severe atherosclerosis and thyroid issues.
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research Polycystic Ovary Syndrome and Cardiovascular Disease
PCOS increases the risk of heart disease and type 2 diabetes in women.