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.
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research Systemic lupus erythematosus as a rare cause of hypercalcemia: A case report
Lupus can be a rare cause of high calcium levels in the blood.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Rumpel-Leede Phenomenon Associated with Pneumatic Compression: A Case Report
Pneumatic compression can cause skin bruising even in healthy individuals.
research UNITY INOVA NMR Spectrometer Systems Installation Planning
Divalproex sodium significantly improved headaches in two-thirds of patients.
research USE OF VALPROIC ACID FOR THE TREATMENT OF NEUROPSYCHIATRIC SYMPTOMS IN ACQUIRED BRAIN INJURIES
Valproic acid effectively reduces aggressive and impulsive behaviors in brain injury patients with acceptable side effects.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Sindrom Fahr: Kalsifikasi Intraserebral Patologis
Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Leukemia cutis of the scalp masquerading as 'Kerion' in a child
Leukemia can sometimes appear as unusual skin issues in children.
research Ichthyosiform Rash and Fever in a Child
The child has a scaly rash and fever, but tests show no infection.
research Acquired trichomegaly with topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research Psychoactive drugs and skin
Some psychoactive drugs can cause skin reactions, with carbamazepine having a higher risk, and stopping the drug and seeing a dermatologist is important.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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 Severe cutaneous adverse reactions to drugs
Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research IMAGING INSIGHTS INTO JC VIRUS-ASSOCIATED PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN NEUROPSYCHIATRIC LUPUS: A CASE REPORT
Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
research Comedonic discoid lupus erythematous
Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
research Can zinc depletion play a role in LEV-induced hair loss? Considerations from a case study
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
research Reporting on Adverse Clinical Events
Different medications can cause serious side effects in some people.
research Ovarian Cycle‐Related Neurosteroid Regulation of GABA‐A Receptor Subunit Plasticity in the Hippocampus Subfields
Progesterone-derived neurosteroids affect GABA-A receptor expression, influencing epilepsy during menstrual cycles.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.