research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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270-300 / 1000+ resultsresearch Ethanol‐induced elevation of 3α‐hydroxy‐5α‐pregnan‐20‐one does not modulate motor incoordination in rats
Ethanol-induced motor incoordination in rats is not affected by increased neuroactive steroids.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Marie Antoinette Syndrome
Marie Antoinette syndrome causes sudden hair whitening, but its exact cause is unknown.
research MARFATIA AWARD
The screening method effectively predicts psychosis, valproate use is linked to hair loss, and IDEAS is valid for assessing mental disorder disability.
research Serum drug level-related sodium valproate-induced hair loss
High levels of the seizure medication sodium valproate can cause hair loss.
research Resolution of Waldenström's macroglubulinemia related isolated neutropenia by immunochemotherapy
Immunochemotherapy successfully treated neutropenia in a patient with Waldenström's macroglobulinemia.
research Clinical and Neuropathogenetic Aspects of Human African Trypanosomiasis
The document concludes that diagnosing and treating Human African Trypanosomiasis is challenging, but new treatments like fexinidazole are promising.
research Pancreatitis associated with valproic acid therapy for epilepsy
Valproic acid can cause serious side effects, including pancreatitis and even death.
research Side effects of carbamazepine, valproate and clonazepam during long-term treatment of epilepsy
Carbamazepine, valproate, and clonazepam can cause mild to serious side effects during long-term epilepsy treatment.
research No todo es efluvio telógeno. Alopecia areata difusa una entidad infradiagnosticada
Accurate diagnosis of hair loss types is crucial for effective treatment.
research Monitoring of clinical signs in goats with transmissible spongiform encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research Sindrom Fahr: Kalsifikasi Intraserebral Patologis
Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.
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 A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research Drug-induced Telogen Effluvium in a Pediatric Patient due to Error of Transcription.
A girl lost her hair due to being given the wrong medication because of a pharmacy's computer error.
research Megaloblastic Anemia in a Patient on Peritoneal Dialysis Returning from Kenya
Proguanil can cause anemia and hair loss in kidney disease patients.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Valproic Acid is an Effective Anti-Emetic Treatment in Alexander Disease (P10-9.010)
Valproic acid is a more effective treatment for vomiting in Alexander disease than other medications, with few side effects.
research Ophthalmologic Features of Thallium Poisoning
Thallium poisoning can cause serious eye problems and other severe health issues.
research Finasteride-related sexual and neuropsychiatric AEs
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Temporal lobe epilepsy exacerbation during pharmacological inhibition of endogenous neurosteroid synthesis
Stopping finasteride improved seizure control, suggesting neurosteroids affect seizures and treatment.
research Enanthem in Patients With COVID-19 and Skin Rash
Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
research ESDR160 - Selected psychological stress and cognitive function parameters in patients suffering from COVID-19 induced telogen effluvium.
COVID-19 patients with hair loss experienced more cognitive issues and these issues were linked to higher levels of depression, anxiety, and stress.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Gastroparesis - a novel cause of persistent thyroid stimulating hormone elevation in hypothyroidism.
Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.
research IMPAIRMENT OF AUDITORY FUNCTION IN PERSONS WITH TYPE 2 DIABETES MELLITUS DEPENDING ON THE LEVEL OF PERIPHERAL MYELIN PROTEIN
High PMP 22 levels in type 2 diabetes patients may cause hearing loss.