research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
Search
for
Sort by
Research
120-133 / 133 resultsresearch Acute Pancreatitis: An Unusual Presentation of Systemic Lupus Erythematosus
Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
research Trichotillomania with Giant Gastric Trichobezoar in a Female Child: A Case Report
An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
research Trichotillomania with Giant Gastric Trichobezoar in a Female Child: A Case Report
An 11-year-old girl with a hair-pulling disorder had a hairball in her stomach and was treated with medication, therapy, and a team of doctors.
research Atypical Presentation of Systemic Lupus Erythematosus with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
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 Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Adult Kawasaki Disease: Report of Two Cases and Literature Review
Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Hereditary, Congenital, and Acquired Alopecias in Dogs and Cats
The conclusion is that different types of hair loss in dogs and cats can be cosmetic or serious, and affected animals should not be bred.
research Systemic Diseases Associated with Primary Biliary Cirrhosis: A Report of 10 Cases
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.