research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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30-60 / 803 resultsresearch An Unusual Case Report of Rapunzel Syndrome Trichobezoar in a 3-Year-Old Boy
A 3-year-old boy had a rare hairball condition usually seen in teenage girls.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Teriflunomide in Patients with Relapsing-Remitting Forms of Multiple Sclerosis
Teriflunomide is effective and generally safe for treating relapsing-remitting multiple sclerosis.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Group-ICA Model Order Highlights Patterns of Functional Brain Connectivity
Choosing the right model order in brain connectivity analysis can affect the detection of differences between healthy individuals and those with seasonal affective disorder.
research Design, Synthesis, and Preclinical Evaluation of Prostate-Specific Membrane Antigen Targeted 99mTc-Radioimaging Agents
Researchers developed promising agents for prostate cancer imaging, with the best one showing high potential for clinical use.
research How Does Altered Metabolism Lead to Seizure Control? Partially Filling the Knowledge Gap
Altered metabolism can help control seizures by changing brain signaling and energy use, suggesting new treatments for epilepsy.
research Neurosteroids on the Epilepsy Chessboard: Keeping Seizures in Check
Ketogenic diet, neurosteroids, and HMGB1-TLR4 signaling pathway are potential targets for new epilepsy treatments.
research Microencapsulated Cell Tracking
Microencapsulation helps protect and track therapeutic cells, showing promise for treating various diseases, but more work is needed to improve the technology.
research Non-Dietary Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
research Minoxidil Improves Vascular Compliance, Restores Cerebral Blood Flow, and Alters Extracellular Matrix Gene Expression in a Model of Chronic Vascular Stiffness
Minoxidil improves blood flow and vessel flexibility, potentially helping with vascular stiffness.
research The Rotterdam Study: 2016 Objectives and Design Update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Multimodal Imaging of Hair Follicle Bulge-Derived Stem Cells in a Mouse Model of Traumatic Brain Injury
Hair follicle stem cells might help treat traumatic brain injury.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research The Rotterdam Study: 2018 Update on Objectives, Design, and Main Results
The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
research A 39-Year-Old Woman with Lupus, Myositis, and a Recalcitrant Vasculopathy
Antituberculous drugs improved symptoms in a woman with lupus and myositis.
research Teriflunomide (Aubagio) for the Treatment of Multiple Sclerosis
Teriflunomide is an effective and generally safe oral treatment for relapsing MS, reducing relapses and slowing disability progression.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Unilateral Thalamic Infarction Associated With Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
research Parotid Pilomatricoma: A Case Presentation and Literature Review
A patient's rare benign tumor in the neck was removed successfully with proper function of the facial nerve maintained.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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 Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Efficacy and Safety of Platelet-Rich Plasma for Acute Nonarteritic Anterior Ischemic Optic Neuropathy: A Prospective Cohort Study
PRP treatment can safely improve short-term vision in acute NAION patients.
research Ovarian Stromal Hyperthecosis and Hyperandrogenemia Refractory to Hormonal Suppression
Removing both ovaries may better treat increased male hormone levels and related symptoms in postmenopausal women when hormone therapy doesn't work.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.