research A Case of Valproate Toxicity Related to Isoniazid
Valproic acid and isoniazid can interact, causing toxicity, so careful monitoring is needed.
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research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Role of Neurosteroidogenic Pathways in the Antiseizure Activity of Midazolam in the 6‐Hz and Kindling Models of Epilepsy
Midazolam's antiseizure effects are mainly due to synaptic GABA-A receptors, not neurosteroids or extrasynaptic receptors.
research Agitation as a Paradoxical Effect of Divalproex Sodium: A Case Report
Divalproex sodium can unexpectedly cause agitation and hyperactivity in some patients.
research Antiepileptogenic effects of trilostane in the kainic acid model of temporal lobe epilepsy
Trilostane may help delay epilepsy development by increasing certain brain chemicals.
research Ferulic acid inhibits catamenial epilepsy through modulation of female hormones
Ferulic acid may help control menstrual cycle-related epilepsy by affecting female hormones.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Sjogren-Larsson Syndrome
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 [Valproic acid, curly hair and weight gain].
Valproic acid can cause weight gain and hair texture changes.
research Diabetes in a Bearded Woman
A woman's diabetes improved after removing ovarian tumors that caused high testosterone levels.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Reproductive dysfunction in women with epilepsy: recommendations for evaluation and management
Women with epilepsy should be monitored for reproductive issues, which can be caused by epilepsy or its treatments, especially when using valproate.
research Noncalcemic actions of 1,25-dihydroxyvitamin D3 and clinical applications
Vitamin D3 is important for bone health and may help treat various diseases beyond bone-related conditions.
research The role of pregnane neurosteroids in ethanol withdrawal: behavioral genetic approaches
Adjusting neurosteroid levels may help reduce alcohol withdrawal symptoms.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Warfare-Related Craniectomy Defect Reconstruction: Early Success Using Custom Alloplast Implants
Custom-designed implants effectively repaired skull damage in most soldiers injured in combat.
research Chapter 7 Reproductive Dysfunction in Women with Epilepsy
Epilepsy and certain epilepsy drugs can lead to reproductive problems in women, but changing medication might improve these issues.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches
Sustained-release sodium valproate is effective in treating epilepsy, with some side effects influenced by genetics.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Autoimmunity and clinical pathology amelioration in SLE by Dexamethasone primed Mesenchymal Stem Cell derived conditioned media
Dexamethasone-primed stem cell media shows promise in treating lupus by reducing symptoms and inflammation.
research Analysis of the finasteride treatment and its withdrawal in the rat hypothalamus and hippocampus at whole-transcriptome level
Finasteride treatment in rats changed the expression of genes related to psychiatric and neurological functions, and these changes persisted after stopping the drug.
research Cosmetic effects of Anti-epileptic drugs ( AEDs)
Antiepileptic drugs cause cosmetic side effects like hair loss and weight gain, but patients still take their medication without it affecting their quality of life.
research Cosmetic effects of anti-epileptic drugs among adult Sudanese epileptic patients
Sudanese epilepsy patients often experience hair loss from anti-epileptic drugs but continue their medication regardless of cosmetic side effects.