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[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDF[The effectiveness of rehabilitation measures using the drug Cortexin in children with neuropsychiatric pathology].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Novosibirsk State Medical University, Novosibirsk, Russia.
Objective: To evaluate the effectiveness of complex rehabilitation measures using the drug Cortexin in children with neuropsychiatric pathology during a one-year follow-up.
Material And Methods: A promising dynamic examination and treatment of 323 children with neuropsychiatric pathology from the age of 7 days to 1 year, age 3.2±1.
The Use of Dietary Supplements for the Management of Adverse Effects of Treatment in Children and Adolescents with Leukemia: A Scoping Review.
Nutr Cancer
December 2024
School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Acute lymphoblastic leukemia is the most prevalent form of leukemia in children and adolescents. Despite high survival rates due to advanced treatments, these therapies often result in significant treatment-related adverse effects. This scoping review explores dietary supplementation strategies for managing these adverse effects in pediatric leukemia patients.
View Article and Find Full Text PDFDiagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder.
Sci Rep
December 2024
Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.
Methods: A multi-center, retrospective study of individuals with DSRD was performed.
Valbenazine for the treatment of chorea associated with Huntington's disease.
Expert Opin Pharmacother
December 2024
Department of Neurology, UTHealth Houston McGovern Medical School, Houston, TX, USA.
Introduction: Chorea is a motor manifestation of Huntington's disease (HD), which can lead to decreased functional independence and falls. Even though multiple classes of medications have been used to treat this symptom, only the vesicular monoamine transporter 2 (VMAT2) inhibitors tetrabenazine, deutetrabenazine, and valbenazine have been approved by the FDA for this indication.
Areas Covered: This article reviews the pharmacological properties, clinical efficacy, safety, and tolerability of valbenazine in the treatment of chorea in HD.
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