research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
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research Comparative biology of tissue repair, regeneration and aging
The symposium concluded that understanding how different species repair tissue and how this changes with age can help advance regenerative medicine.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
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 Short-term efficacy and safety of valproate sustained-release formulation in newly diagnosed partial epilepsy VIPe-study. A multicenter observational open-label study.
Valproate sustained-release is effective and generally safe for short-term treatment of new partial epilepsy.
research [Valproic acid, curly hair and weight gain].
Valproic acid can cause weight gain and hair texture changes.
research A Case of Valproate Toxicity Related to Isoniazid
Valproic acid and isoniazid can interact, causing toxicity, so careful monitoring is needed.
research Diabetes in a Bearded Woman
A woman's diabetes improved after removing ovarian tumors that caused high testosterone levels.
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 SUN-144 Initiating Estradiol Hormone Therapy in a Transgender Woman With Multifocal Idiopathic Localization-Related Epilepsy
The patient was satisfied with hormone therapy, and her epilepsy remained stable.
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 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 This Month in Clinical Urology
New treatments and diagnostic methods for urological conditions show promise, but some lack sufficient accuracy for clinical use.
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 Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Hormesis and medicine
Low doses of some substances can be beneficial, while high doses can be harmful or toxic.
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 Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Systemic Lupus Erythematosus
PUVA treatment may have triggered lupus in a woman with psoriasis.
research Graded levels of pyridoxine in the rat diet during gestation and the physical and neuromotor development of offspring
Not enough vitamin B6 in pregnant rats' diets caused poor development and health in their babies.
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.