research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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research Female Pattern Hair Loss: An Overview with Focus on the Genetics
Different genes cause Female Pattern Hair Loss compared to male hair loss, and treatments vary, but more research is needed to understand it fully.
research Drug Repurposing: A Promising Approach for Patients With Angina and Non-Obstructive Coronary Artery Disease (ANOCA)
Using existing drugs for new purposes could be a cost-effective way to treat chest pain and non-clogged heart arteries, with some drugs for lung blood pressure showing promise but needing more testing.
research Cell Therapy for Androgenetic Alopecia: Elixir or Trick?
Stem cell therapies could be a promising alternative for hair loss treatment, but more research is needed to understand their full potential and safety.
research Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes
The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Insights Into the Scenario of SARS-CoV-2 Infection in Male Reproductive Toxicity
COVID-19 may harm male reproductive health and lower testosterone levels, potentially affecting fertility and causing erectile dysfunction. More research is needed.
research Ideal JAK Inhibitor for Alopecia Areata: Baricitinib, Tofacitinib, Ritlecitinib, or Ifidancitinib - Revisiting the Immunomechanisms of the JAK Pathway
No single ideal JAK inhibitor for alopecia areata has been determined; JAK3 inhibitors may be promising with fewer side effects.
research Polycystic Ovary Syndrome: Diagnosis and Management
PCOS is managed by lifestyle changes and personalized medication to improve symptoms and fertility.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Pathogenesis of Androgenetic Alopecia
Androgenetic alopecia, or hair loss, is caused by a mix of genetics, hormones, and environment, where testosterone affects hair growth and causes hair to become smaller and grow for a shorter time.
research SnapshotDx Quiz: January 2021
Papulopustular rosacea is an inflammatory skin condition treatable with lifestyle changes and medications.
research Acanthosis Nigricans, Insulin Resistance, and Cutaneous Virilism
The conclusion is that there's a link between high testosterone levels, insulin resistance, and certain skin conditions, regardless of obesity.
research The Anti-Atopic Lotions Containing Fucoidan Extracted from Ecklonia Cava Impact on Hairless Mice with Atopic Dermatitis
Lotion with fucoidan from brown seaweed improved skin and reduced allergy symptoms in mice with dermatitis.
research Comparative Analysis of Scalp and Gut Microbiome in Androgenetic Alopecia: A Korean Cross-Sectional Study
The scalp microbiome is more diverse and may be more important in hair loss than the gut microbiome.
research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
The study reported a novel de novo pathogenic variant in the ODC1 gene in a 32-month-old Caucasian girl, marking the first human case with symptoms similar to those observed in a transgenic ODC1 mouse model. The identified heterozygous nonsense mutation in the ODC1 gene resulted in a premature termination of 14 amino acid residues at the protein's c-terminus. The patient exhibited phenotypic features such as developmental delay, alopecia, macrosomia, macrocephaly, spasticity, hypotonia, cutaneous vascular malformation, delayed visual maturation, and sensorineural hearing loss. Whole-exome sequencing and Sanger sequencing confirmed the mutation (c.1342 A>T), and elevated ODC protein and polyamine levels were found in the patient's red blood cells. The study suggested that the patient might benefit from treatment with α-difluoromethylornithine, an FDA-approved drug.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Lymphatic Vessel: Origin, Heterogeneity, Biological Functions, and Therapeutic Targets
Lymphatic vessels are essential for health and can be targeted to treat various diseases.
research NF-κB in Biology and Targeted Therapy: New Insights and Translational Implications
NF-κB signaling is crucial in many diseases and can be targeted for new treatments.
research Hair Shaft Disorders: A Rare Case Series
The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
research Tumor Development in Lynch Syndrome: Genes Load the Gun, Lifestyle Pulls the Trigger?
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
research Successful Topical Minoxidil Treatment for Hair Density and Length in Trichorhinophalangeal Syndrome Type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.