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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900-930 / 1000+ results research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Identifying effective immune biomarkers in alopecia areata diagnosis based on machine learning methods
Machine learning can help find new ways to treat alopecia areata.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research Highlights from the Field of Pediatric Dermatology Research from the 2023 PeDRA Annual Conference
The conference highlighted new treatments and research in pediatric skin conditions, emphasizing collaboration and innovation.
research Bacillus Calmette-Guerin (BCG) Site Reaction After Coronavirus Disease 2019 (COVID-19) mRNA Vaccination
BCG site reactions after COVID-19 mRNA vaccination are mild, temporary, and likely under-reported.
research Recurrent facial Microcystic adnexal carcinoma and hair transplantation on scar site
Hair transplantation can improve scars after removing a rare skin cancer.
research Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network
CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
research The complex relationship between TFEB transcription factor phosphorylation and subcellular localization
Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
research Vaccines, adjuvants and autoimmunity
Vaccines are generally safe, but rare autoimmune reactions can occur, often influenced by genetics.
research Drug Repositioning: New Approaches and Future Prospects for Life-Debilitating Diseases and the COVID-19 Pandemic Outbreak
Drug repositioning offers a cost-effective, lower-risk way to treat diseases and pandemics like COVID-19.
research COVID-19 in adult patients with pre-existing chronic cardiac, respiratory and metabolic disease: a critical literature review with clinical recommendations
COVID-19 severely affects older adults with chronic heart, lung, or metabolic diseases.
research Immunological challenges associated with artificial skin grafts: available solutions and stem cells in future design of synthetic skin
Artificial skin grafts face immune rejection, but stem cells may improve future designs.
research Advances in Chitosan-Based Nanoparticles for Drug Delivery
Chitosan, a natural substance, can be used to create tiny particles that effectively deliver various types of drugs, but more work is needed to improve stability and control of drug release.
research A Transition State Analogue of 5′-Methylthioadenosine Phosphorylase Induces Apoptosis in Head and Neck Cancers
MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.
research Dupilumab in Inflammatory Skin Diseases: A Systematic Review
Dupilumab effectively treats various inflammatory skin diseases beyond its initial use for atopic dermatitis.
research Polycystic ovary syndrome (PCOS) is associated with NASH severity and advanced fibrosis
Women with PCOS have more severe liver disease.
research Prevalence of the metabolic syndrome in African populations: A systematic review and meta-analysis
Metabolic syndrome is common in African populations, needing urgent prevention and treatment.
research Androgen insufficiency in women: diagnostic and therapeutic implications
Testosterone replacement can help women with low libido and mood, but they need to have enough estrogen first to avoid side effects.
research The chemokine SDF-1/CXCL12 regulates the migration of melanocyte progenitors in mouse hair follicles
SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
research Advancements and challenges in stem cell transplantation for regenerative medicine
Stem cell transplantation shows promise for treating diseases but faces challenges like safety, ethics, and cost.
research Coronavirus Infection and Cholesterol Metabolism
Cholesterol affects coronavirus spread and could be a target for treatment.
research Hair regrowth in alopecia areata patients following Stem Cell Educator therapy
Stem Cell Educator therapy helps regrow hair and improve life quality in alopecia areata patients.
research Comparative Anatomy of Mouse and Human Nail Units
Mouse nails are similar to human nails, making them useful for studying nail diseases.
research Medicinal Chemistry of Drugs with N-Oxide Functionalities
N-oxides are important in medicine for improving drug properties and targeting.
research Targeting integrin pathways: mechanisms and advances in therapy
New therapies are being developed that target integrin pathways to treat various diseases.
research Role of janus kinase inhibitors in the treatment of alopecia areata
Janus kinase inhibitors show promise in treating alopecia areata but need better topical formulations.