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.
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840-870 / 1000+ resultsresearch 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 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 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 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 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.
research Effect of Neurosteroid Withdrawal on Hippocampal GABA‐A Receptor α4‐Subunit Expression in Female Mice
Neurosteroid withdrawal increases α4 subunit expression in the hippocampus, which may relate to catamenial epilepsy in women.
research Volume 1982, No. 4 February 26, 1982
Some medications caused temporary health issues that improved after stopping the drugs, but two patients died from liver problems linked to carbamazepine.
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 Systemic Lupus Erythematosus
PUVA treatment may have triggered lupus in a woman with psoriasis.
research Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach
Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
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 Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
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 Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Intoxication massive au lithium associée à une alopécie télogène diffuse
A woman survived a massive lithium overdose that caused a form of hair loss.
research Cryptoccoccal meningitis in post-covid 19 patient in the city of manaus: Case report
A post-COVID-19 patient in Manaus developed cryptococcal meningitis, highlighting the need for better health education and sanitation.
research Minoxidil Toxicosis in Cats and Dogs: A Cross‐Sectional Analysis of Social Media Reports and Public Awareness
Minoxidil can be toxic to pets, especially cats, and public awareness is low.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Liquid Chromatography-Mass Spectrometry Based Isotopic Abundance Ratio Analysis of the Consciousness Energy Healing Treated L-Cysteine
Energy healing treatment improved L-cysteine's stability, solubility, bioavailability, and shelf-life.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Neuropsychiatric lupus in a Nigerian teenager
A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
research Risk of valproic acid-related alopecia: A systematic review and meta-analysis
Valproic acid increases the risk of hair loss more than other drugs, especially in migraine patients, and lamotrigine may be a safer alternative.
research Hypertensive urgency in a child with focal epilepsy: Is it sodium valproate induced?
Sodium valproate can cause serious high blood pressure in children.
research Progesterone-induced spike-wave discharges are inhibited by finasteride
Finasteride blocks progesterone's effect on brain activity linked to epilepsy.
research Obesity, polycystic ovarian syndrome and thyroid dysfunction in women with epilepsy
Women with epilepsy on certain medications might gain weight and have higher thyroid-stimulating hormone levels, but not more polycystic ovarian syndrome.