research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Effectiveness of Platelet-Rich Plasma for Patients With Carpal Tunnel Syndrome: A Systematic Review and meta-Analysis of Current Evidence in Randomized Controlled Trials
PRP injections help with carpal tunnel symptoms short-term, but more research is needed for long-term effects.
research Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management
Selumetinib causes skin and hair side effects in kids with NF1, affecting treatment and quality of life.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Presence of Uterine Leiomyomas Has No Significant Impact on Gene Expression Profile in the Scalp of Patients with Central Centrifugal Cicatricial Alopecia
Uterine leiomyomas don't significantly change gene expression in the scalp of people with Central Centrifugal Cicatricial Alopecia.
research Evaluation of neutrophil to lymphocyte ratio, platelet to lymphocyte ratio, mean platelet volume, CRP and ESR with disease severity in patients with alopecia areata
Higher MPV and CRP levels may indicate more severe alopecia areata.
research Melatonin and the Human Hair Follicle
Melatonin may help improve hair growth in people with certain types of hair loss.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Adolescent's Hair Loss due to Levetiracetam
A teenager lost hair after starting epilepsy medication levetiracetam.
research The ‘Watch Sign’ – Another Observation in the Course of Male Frontal Fibrosing Alopecia
Hair loss in male frontal fibrosing alopecia may spare areas covered by a wristwatch.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research Cosmetic adverse effects of antiseizure medications; A systematic review
Some antiseizure medications can cause cosmetic problems like hair loss, excessive hair growth, acne, and gum overgrowth.
research Hair Metal Dysregulation in Parkinson's Disease: Implications for Diagnosis and Gut-Brain Axis Involvement
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research A comparison of the effects of lamotrigine and levetiracetamand lamotrigine and valproate sodium in patients with epilepsy
Levetiracetam and valproate sodium both reduce seizures when added to lamotrigine, but levetiracetam has fewer side effects.
research Seizure control and side-effect profile after switching adult epileptic patients from standard to extended-release divalproex sodium
Switching to extended-release divalproex sodium improved patient-reported tremor but did not change seizure frequency or most side effects.
research Two parietal cephaloceles in a female neonate
A baby girl had two brain-related growths removed and is developing normally.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research The “spade sign” as a pathognomonic histopathologic feature of acne keloidalis: Analysis of 33 cases of cicatricial alopecia
The "spade sign" is a highly specific indicator for diagnosing acne keloidalis.
research Dermatological Manifestations of Celiac Disease: a Literature Review
Celiac disease can cause skin issues, and a gluten-free diet can help improve them.
research Plica Neuropathica as a Presenting Rare Dermatologic Symptom of Schizophrenia
Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
research Attenzione divisa nei pazienti con cerebrolesione acquisita
Finasteride may cause sexual and psychological side effects by affecting an enzyme related to epinephrine.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research The neurosteroid environment in the hippocampus exerts bi-directional effects on seizure susceptibility in mice
Neurosteroids in the brain can increase or decrease seizure risk in mice.
research Treatment of Benign Essential Blepharospasm With Finasteride
Finasteride helps treat eyelid spasms.
research ABS0613 BRAIN FOG – A FREQUENT, WORRYING AND UNDER TREATED SYMPTOM OF LUPUS IN PATIENT EXPERIENCE
Brain fog in lupus is common, worrying, and often not treated properly.