research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
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660-690 / 1000+ results research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Identification of BST2 as a biomarker for alopecia areata in both mice and humans
BST2 is a key marker for hair loss disease alopecia areata.
research Effect of Zinc-Deficient Diet on Two Strains of Mice
A zinc-deficient diet stunted growth and affected organs in mice, with C57BL/6J mice showing more severe symptoms.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Diagnosis of childhood and adolescent growth hormone deficiency using transcriptomic data
Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Dizziness and rash in an HIV positive man
The man likely has secondary syphilis affecting his nervous system.
research Letters: CD4+ Lymphocytopenia in Systemic Lupus Erythematosus
CD4+ lymphocytopenia can occur in patients with systemic lupus erythematosus.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Chronic graft versus host disease and skin
cGVHD often severely affects the skin, causing rapid aging and other issues.
research 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research A mouse model of vitiligo based on endogenous auto-reactive CD8 + T cell targeting skin melanocyte
A new mouse model effectively mimics vitiligo for research and drug testing.
research Varying Presentation of Type 1 Polyglandular Failure in India
In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
research Regulatory T Cells in Autoimmune Diseases and their Potential
Enhancing regulatory T cells may help treat autoimmune diseases like alopecia areata.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Response to Weinstein’s “Reply of Increased risk of vitamin D deficiency and insufficiency in Black patients with central centrifugal cicatricial alopecia.”
The authors maintain there is a significant link between vitamin D deficiency and central centrifugal cicatricial alopecia in Black patients, and call for more research on the topic.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research An epidemic of porphyria cutanea tarda?
Hepatitis C and alcohol abuse may lead to porphyria cutanea tarda.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.