research Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
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research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Visual Diagnosis: An Adolescent Female With Increasing Hair Growth
The girl has a hormonal imbalance causing increased hair growth and other male characteristics.
research Methotrexate for Maintenance of Remission in Ulcerative Colitis
Methotrexate is not proven to maintain remission in ulcerative colitis.
research Biomedical Applications of Organoids in Genetic Diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Drug Repositioning: New Opportunities for Older Drugs
Finding new uses for existing drugs is promising and can lead to safer, more effective medicines.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Environmental Factors and Puberty Timing: Expert Panel Research Needs
Chemicals and body size might change when puberty starts and progresses, but more research is needed to confirm this.
research Polycystic Ovary Syndrome in Adolescents
Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
research Exploring the Drug Repurposing Versatility of Valproic Acid as a Multifunctional Regulator of Innate and Adaptive Immune Cells
Valproic Acid could potentially be used to treat immune-related conditions due to its ability to modify immune cell functions.
research Drug Repositioning: Current Approaches and Their Implications in the Precision Medicine Era
Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Alemtuzumab-Induced Secondary Autoimmune Skin Disorders as Side Effects of Multiple Sclerosis Therapy: Problem That Can Be Influenced or Fate? A Narrative Overview of the Literature and a Neuroprotective Role of Vitamin D
Taking vitamin D might improve life for MS patients and reduce skin side effects from alemtuzumab treatment.
research The Many Faces of Calcineurin Inhibitor Toxicity—What the FK?
Calcineurin inhibitors, used in kidney transplants, can cause a wide range of side effects including kidney damage and other health issues.
research A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research South Asian Epidemic of Antifungal Therapeutic Failures: Congress Proceedings and Take-home Messages. First International Congress of SAARCUM: South Asian Alliance Against Recalcitrant Cutaneous Mycosis. 17 November 2018, Medanta – The Medicity, Gurugram, India
The congress concluded that misuse of antifungal drugs in South Asia has led to widespread treatment failure, and new approaches and regional cooperation are needed.
research Alopecia Areata: An Autoimmune Disease of Multiple Players
Alopecia areata is an incurable autoimmune condition causing hair loss, with research aiming for better treatments.
research Reproductive Outcomes of Female Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Regeneration, Wound Healing, and Cancer
The document concludes that while some organisms can regenerate body parts, mammals generally cannot, and cancer progression is complex, involving mutations rather than a strict stem cell hierarchy.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Transcriptome Profiling of Human Follicle Dermal Papilla Cells in Response to Porphyra-334 Treatment by RNA-Seq
Porphyra-334 may help reduce wrinkles and promote hair growth.
research Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Human αβ and γδ T Cells in Skin Immunity and Disease
Certain types of T cells are essential for healthy skin and play a role in skin diseases, but more research is needed to improve treatments.
research Monilethrix of the Scalp from Almost Normal Aspect to Total Alopecia: Variable Intrafamilial Expressiveness
Monilethrix causes different levels of hair loss in family members.
research Androgen Signaling Regulates SARS-CoV-2 Receptor Levels and Is Associated with Severe COVID-19 Symptoms in Men
Male hormones affect COVID-19 severity and certain drugs targeting these hormones could help reduce the risk.
research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research References
research Pediatric Dermatology
Skin problems are common in Bangladesh due to arsenic, prompt treatment of diabetic foot ulcers is crucial, maternal transmission causes most neonatal herpes, treatments for pediatric vasculitis are effective, the chickenpox vaccine works, more frequent UVB therapy helps psoriasis, certain jobs increase hand dermatitis risk, monoclonal antibodies treat psoriasis well, lifestyle affects psoriasis, alefacept improves psoriasis, imiquimod cream partially clears basal cell carcinoma, and iron may not help chronic hair loss.