research Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
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research The Relative Frequency of Small Vessel Cerebrovascular Disease and Brain Atrophy in MRI of Patients With Psoriasis
Psoriasis patients did not show more brain atrophy or small vessel disease than controls, but longer psoriasis duration was linked to more brain atrophy.
research Leptomeningeal Angiomatosis Accompanied by Hair Follicle Nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
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.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
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 Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Use of Chemotherapy During Human Pregnancy
Chemotherapy in the first trimester of pregnancy is risky, but in the second and third trimesters, it's generally safe with careful drug selection and timing.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Adverse Health Effects of Androgen Use
Using anabolic androgenic steroids can cause serious, lasting health problems in many parts of the body.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Delayed Diagnosis of Kearns-Sayre Syndrome in a 38-Year-Old Male Patient: A Case Report
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Clinical Case of a Patient with Progressive Supranuclear Palsy – From Symptom to Diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Caffeic Acid Attenuates Acrylamide Induced Biochemical, Hematological and Histological Alterations in Rats
Caffeic acid helps protect rats from the harmful effects of acrylamide.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Diagnosis and Treatment of Methylmalonic Acidemia in 14 Cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
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 Trichotillomania as a Manifestation of Dementia
Trichotillomania in dementia may be better treated with dopamine blockers like quetiapine than with SSRIs.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Neuropsychiatric Lupus: Two Sides of the Same Coin
A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
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 Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Extensive Cerebral Arteriovenous Malformation Presenting as a Small Cutaneous Lesion on the Forehead
A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.