research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
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research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Novel Aspects of Age-Protection by Spermidine Supplementation Are Associated with Preserved Telomere Length
Spermidine helps protect against aging by preserving telomere length.
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 A Case of Tofacitinib for the Treatment of Resistant Vitiligo and Sustained Repigmentation After Discontinuation
A woman's vitiligo improved with tofacitinib treatment, and her skin color remained even after stopping the medication, but there are concerns about cancer risk.
research Delta Opioid Receptors Presynaptically Regulate Cutaneous Mechanosensory Neuron Input to the Spinal Cord Dorsal Horn
Delta opioid receptors help regulate touch sensation by reducing neurotransmitter release in the spinal cord.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Case 5: A Very Tall 7-Year-Old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research Inhibition of Mitochondrial Respiration Prevents BRAF-Mutant Melanoma Brain Metastasis
Stopping mitochondrial respiration can prevent brain cancer spread in skin cancer patients, and plant compound β-sitosterol could help achieve this.
research Neuroactive Steroid Levels Are Modified in Cerebrospinal Fluid and Plasma of Post-Finasteride Patients Showing Persistent Sexual Side Effects and Anxious/Depressive Symptomatology
Finasteride use changes brain chemicals, causing lasting sexual issues and anxiety/depression.
research Patients Treated for Male Pattern Hair Loss with Finasteride Show Altered Levels of Neuroactive Steroids in Cerebrospinal Fluid and Plasma After Discontinuation
Finasteride affects brain and blood steroids, causing lasting sexual and emotional side effects.
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 Use of High-Dose Cyproterone Acetate and Risk of Intracranial Meningioma in Women: Cohort Study
High doses of cyproterone acetate increase the risk of brain tumors in women, but the risk decreases after stopping the medication.
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 Immune-Mediated Diseases of the Central Nervous System
The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Current Understanding of the Pathways Involved in Adult Stem and Progenitor Cell Migration for Tissue Homeostasis and Repair
The document concludes that understanding how adult stem and progenitor cells move is crucial for tissue repair and developing cell therapies.
research A Rare Cutis Verticis Gyrata Secondary to Cerebriform Intradermal Nevus: Case Report and Literature Review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
research Systemic Lupus Erythematosus as a Rare Cause of Hypercalcemia: A Case Report
Lupus can be a rare cause of high calcium levels in the blood.
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 Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Two Cases of Stroke Associated with the Use of Finasteride, an Approved Drug for Male-Pattern Hair Loss in Japan
Finasteride, a hair loss medication, may be linked to stroke in young men.
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 A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
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.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
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 Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.