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.
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research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies
Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Targeting of Smoothened for therapeutic gain
Targeting the Smoothened receptor shows promise for treating certain cancers.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Indian Medicinal Herbs and Formulations for Alzheimer’s Disease, from Traditional Knowledge to Scientific Assessment
Indian herbs like Bacopa monnieri and Centella asiatica may help memory, but more research is needed.
research A Review of Edible Jujube, the Ziziphus jujuba Fruit: A Heath Food Supplement for Anemia Prevalence
Jujube fruit may help prevent anemia by boosting blood production.
research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research Poster Presentations
Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
research Turmeric Essential Oil Constituents as Potential Drug Candidates: A Comprehensive Overview of Their Individual Bioactivities
Turmeric essential oil compounds have potential as safe, effective drugs.
research Ferulic Acid Induces Keratin 6α via Inhibition of Nuclear β-Catenin Accumulation and Activation of Nrf2 in Wound-Induced Inflammation
Ferulic acid helps wounds heal faster by reducing inflammation and promoting skin cell movement.
research Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research Assessment of prescribing information for generic drugs manufactured in the Middle East and marketed in Saudi Arabia
Generic drug inserts in Saudi Arabia often have inaccurate information, needing better regulation and quality control.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Game Changers: Blockbuster Small-Molecule Drugs Approved by the FDA in 2024
In 2024, the FDA approved 27 innovative small-molecule drugs, with many offering significant treatment improvements.
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.
research Role of regeneration in tissue repairing and therapies
The review concludes that innovations in regenerative medicine, tissue engineering, and developmental biology are essential for effective tissue repair and organ transplants.
research Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research Early post-natal neuroactive steroid manipulation modulates ondansetron effects on initial periods of alcohol consumption in rats
Early changes in brain chemicals affect how a drug reduces alcohol intake in rats.
research Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research Hemp (Cannabis sativa L.) Phytochemicals and Their Potential in Agrochemical, Cosmetic, and Food Industries: A Review
Hemp's compounds can be used in natural insecticides, cosmetics, and food supplements.
research Unraveling Translational Insights into Systemic Multi-Organ Toxicity of Cytosine Arabinoside (Ara-C): A Systematic Review of Preclinical Animal Evidence
Cytarabine can cause multiple organ toxicities, especially neurotoxicity, but better research methods are needed to fully understand and predict these effects.
research Transcranial photobiomodulation for brain diseases: review of animal and human studies including mechanisms and emerging trends
Light therapy on the brain shows promise for treating brain diseases and improving brain function.
research Thallium - poisoner’s poison: An overview and review of current knowledge on the toxicological effects and mechanisms
Thallium is highly toxic, causing severe health issues, and Prussian blue is the best antidote.
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 Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Analyzing The Ebola ViruAnalyzing The Impact That The Ebola Virus Disease Has on Children
Ebola affected children less severely than adults, but better control measures and data collection are needed.