research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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150-180 / 1000+ results research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Thyroid Autoimmunity in Patients with Skin Disorders
People with alopecia areata often have thyroid autoimmunity.
research The Case: Bilateral Kidney Tumors and Lung Cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research The Effect of Nanoparticle-Incorporated Natural-Based Biomaterials on Cells and Activated Pathways: A Systematic Review
Nanoparticles added to natural materials like cellulose and collagen can improve cell growth and wound healing, but more testing is needed to ensure they're safe and effective.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research In Vitro and In Vivo Structure-Activity Relationships of Novel Androgen Receptor Ligands with Multiple Substituents in the B-Ring
Certain changes to the B-ring of androgen receptor ligands can increase their effectiveness for potential treatments of muscle and bone conditions.
research Case 21-2012
The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.
research The Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach
Hairless gene not strongly linked to baldness.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Tendency to Underestimate the Severity of Androgenetic Alopecia
People often underestimate hair loss severity, with fewer seeking treatment, and it's more distressing for women.
research Human Papillomavirus 60-Positive Epidermal Cyst and Wart at a Non-Palmoplantar Location
HPV 60 may cause cysts and warts on the face, not just hands and feet.
research Is the Comb Over Dying? A Mouse Model for Male Pattern Baldness (Androgenic Alopecia)
The mouse model suggests male pattern baldness may be due to an enzyme increasing DHT and higher androgen receptor levels in hair follicles.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Genetic Diversity of Armillaria Species Symbiotic with Polyporus Umbellatus in China
Different types of Armillaria fungus have a high genetic variety when partnering with Polyporus umbellatus mushrooms in China.
research Is Dutasteride a Therapeutic Alternative for Amyotrophic Lateral Sclerosis?
Dutasteride, usually used for prostate issues and hair loss, could potentially treat Amyotrophic Lateral Sclerosis (ALS) due to its neuroprotective, antioxidant, and anti-inflammatory properties, but more testing is needed.
research Hepatology Highlights: Key Findings from 2004
Tenofovir is more effective than adefovir for resistant hepatitis B, Fibroscan is good for assessing liver damage, regulatory T cells may help hepatitis C persist, and other insights into liver health and disease were found.
research Childhood Systemic Lupus Erythematosus: Clinical and Immunologic Patterns in Mexican Children
Gender-specific analysis could improve treatment for childhood systemic lupus erythematosus.
research Coinheritance of BRCA2 and CYLD Germline Pathogenic Variants Associated with Targetable Metastatic Malignant Cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Etiological Role of Ferritin and Vitamin D in Patients with Telogen Effluvium
Low ferritin levels might be linked to telogen effluvium, but vitamin D levels are not.
research Cortexolone 17a-Propionate: A New Antiandrogen Acting on Hair Dermal Papilla Cells for the Treatment of Androgenic Alopecia
Cortexolone 17a-propionate may be an effective new treatment for hair loss.
research The British Society for Rheumatology Guideline for the Management of Systemic Lupus Erythematosus in Adults
The guidelines suggest a detailed approach to diagnosing and treating lupus, with a focus on regular check-ups, personalized medicine, and a range of drug options for different cases.
research Caffeine’s Mechanisms of Action and Its Cosmetic Use
Caffeine in cosmetics may reduce cellulite, protect skin, and stimulate hair growth, but more research is needed on its use and effects.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Bioengineering a 3D Integumentary Organ System from iPS Cells Using an In Vivo Transplantation Model
Researchers created a fully functional, bioengineered skin system with hair from stem cells that successfully integrated when transplanted into mice.
research The Role of Micronutrients in Alopecia Areata: A Review
People with alopecia areata often have lower levels of vitamin D, zinc, and folate, but more research is needed to understand if supplements can help treat it.
research How to Diagnose a Lipodystrophy Syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Analysis of Protein Interactions by Surface Plasmon Resonance
Surface Plasmon Resonance is a useful tool for studying protein interactions and has potential for future technological advancements.
research Follicular Dermal Papilla Structures by Organization of Epithelial and Mesenchymal Cells in Interfacial Polyelectrolyte Complex Fibers
Scientists created 3D hair-like structures that could help study hair growth and test treatments.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.