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[Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
Characteristics and Popularity of Videos of Abusive Head Trauma Prevention: Systematic Appraisal.
J Med Internet Res
December 2024
Epidémiologie clinique-évaluation économique appliqué aux populations vulnérables (ECEVE), Université Paris Cité, Inserm, Paris, France.
Background: Numerous strategies for preventing abusive head trauma (AHT) have been proposed, but controlled studies failed to demonstrate their effectiveness. Digital tools may improve the effectiveness of AHT prevention strategies by reaching a large proportion of the adult population.
Objective: This study aimed to describe the characteristics of videos of AHT prevention published on the internet, including their quality content, and to study their association with popularity.
Highly efficient production of lacto-N-tetraose in plasmid-free Escherichia coli through chromosomal integration of multicopy key glycosyltransferase genes.
Int J Biol Macromol
January 2025
State Key Laboratory of Food Science and Resources, Jiangnan University, Wuxi, Jiangsu 214122, People's Republic of China.
Lacto-N-tetraose (LNT) is a functional human milk oligosaccharide (HMO) commercially added to infant formula. Metabolically engineered strains for efficient production of LNT have been widely constructed. However, most of them rely on the use of plasmids, which might bring metabolic burden and the antibiotic issue.
View Article and Find Full Text PDFAssessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
J Inherit Metab Dis
September 2024
Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Article Synopsis
- Mono-allelic DHDDS variants lead to a range of neurological issues, including seizures, intellectual disabilities, and movement disorders, with symptoms beginning at different ages and progressing variably among patients.
- A study of 59 patients revealed that while symptoms often start early, the onset and development can differ widely, with some experiencing the full range in childhood and others in adulthood.
- No clear links were found between symptom onset or progression and factors like patient sex or specific DHDDS variants, but 19% of patients also showed signs of autism spectrum disorder, highlighting its relevance in managing the condition.
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