research The Rotterdam Study: 2014 Objectives and Design Update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
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research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Posters Presented at the 19th Joint Meeting of the International Society of Dermatopathology, March 2–3, 2016, Hilton Crystal City at Washington Reagan National Airport, Arlington, Virginia, USA
The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
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 Phenotypic Variation in Biotinidase Deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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 Biotinidase Deficiency: A Survey of 10 Cases
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research De Novo Mutation in the Mitochondrial tRNA Leu(UUR) Gene (A3243G) with Rapid Segregation Resulting in MELAS in the Offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Balint’s Syndrome—Missed or Mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Biotinidase Enzyme Deficiency: Case Report
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Salt-Losing Tubulopathy and Chronic Dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
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.
research Postzygotic KRAS G12C Mutation Associated with Various Malignancies Also Underlying Epidermal Nevus Syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Antiaging Effect of Pleurotus Cornucopiae Extracts
Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.
research A Cell Polarity Protein, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence and Hair Follicle Regeneration
The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
research Deoxycorticosterone’s Anticonvulsant Effects in Infant Rats Are Blocked by Finasteride, but Not by Indomethacin
Finasteride blocks deoxycorticosterone's anticonvulsant effects in infant rats, but indomethacin doesn't.
research Review of the Effects of 17α-Estradiol in Humans: A Less Feminizing Estrogen with Neuroprotective Potential
17α-estradiol is a safe estrogen that might protect the brain and doesn't cause feminization, needing more research for treating brain diseases.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Spironolactone-Induced Hepatitis
A woman's liver problems improved after she stopped taking spironolactone.
research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Issues in the Treatment of Epilepsy
Treating epilepsy is complex, requiring careful drug choice and patient adherence to manage seizures and side effects.
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 Focal Neurotoxicity Associated With Topical 5-Fluorouracil
Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Adverse Drug Reactions Reported in 1978
A document listed serious side effects from various drugs, including deaths and diseases, emphasizing the importance of being aware of drug side effects.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.