research Diagnosis and Treatment of Methylmalonic Acidemia in 14 Cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
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research Synthesis and Actions of 5α-Reduced Metabolites of Testosterone in the Nervous System
Testosterone and its metabolites affect brain functions and could help treat neurological disorders.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Wnt/β-Catenin Signaling: Function, Biological Mechanisms, and Therapeutic Opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Polycystic Ovary Syndrome (PCOS): An Inflammatory, Systemic, Lifestyle Endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Extra-Intestinal Manifestation of Celiac Disease in Children
Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.
research The Ophthalmological Complications of Targeted Agents in Cancer Therapy: What Do We Need to Know as Ophthalmologists?
Cancer treatments can cause various eye problems, so eye doctors should know how to diagnose and treat these early.
research Lysophospholipid Mediators in Health and Disease
Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Activation of Extrasynaptic δ-GABAA Receptors Globally or Within the Posterior VTA Has Estrous-Dependent Effects on Alcohol Consumption and Estrous-Independent Effects on Locomotion
δ-GABAA receptors affect alcohol consumption based on the estrous cycle and influence movement regardless of the cycle.
research Long-Term Administration of Triterpenoids From Ganoderma Lucidum Mitigates Age-Associated Brain Physiological Decline via Regulating Sphingolipid Metabolism and Enhancing Autophagy in Mice
Taking triterpenoids from Ganoderma lucidum over a long time can help slow down brain aging and improve overall health in mice.
research Therapeutic Potential of Hair Follicle-Derived Stem Cell Intranasal Transplantation in a Rat Model of Ischemic Stroke
Transplanted hair follicle stem cells improved brain function and reduced damage after a stroke in rats.
research Repetitive Transcranial Magnetic Stimulation for Treatment of Trichotillomania: Case Series
rTMS may help treat trichotillomania in some patients.
research Trichotillomania as a Manifestation of Dementia
Trichotillomania in dementia may be better treated with dopamine blockers like quetiapine than with SSRIs.
research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Case 2-2022: An Adolescent Male in Cardiac Arrest 3 Days After Liver Transplantation for End-Stage Liver Disease
The patient recovered well and returned to college without any lasting issues.
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 Idiopathic Hypoparathyroidism with Extensive Intracranial Calcification in Children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Alopecia Totalis Successfully Treated with Modified Platelet-Rich Plasma Therapy in a Patient Recalcitrant to Traditional Treatment Modalities
Modified PRP therapy successfully treated severe alopecia unresponsive to traditional methods.
research An Unusual Presentation of X-Linked Adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Hair Loss Severity and Its Impact on Quality of Life in Patients Suffering from Androgenic Alopecia: A One-Year Cross-Sectional Study
Severe hair loss significantly worsens quality of life.
research Effect of 5-Alpha Reductase Inhibitors in Animal Models of Parkinson's Disease
5-alpha reductase inhibitors may help protect the brain and gut in Parkinson's disease.
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 The Multisystem Impact of Long COVID: A Comprehensive Review
Long COVID causes a wide range of long-lasting symptoms that change over time and are hard to diagnose and treat.
research Tacrolimus Monitoring in Hair Samples of Kidney Transplant Recipients
Hair samples can reliably monitor tacrolimus levels in kidney transplant patients.
research SnapshotDx Quiz: January 2021
Papulopustular rosacea is an inflammatory skin condition treatable with lifestyle changes and medications.
research Diphenyl Cresyl Phosphate [MAK Value Documentations, 2003]
Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.