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Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?
Front Pediatr
December 2024
Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Children's Hospital, Hannover Medical School, Hannover, Germany.
Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe.
Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children.
EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.
Mol Neurobiol
December 2024
Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial role in repression of gene transcription in a highly tissue- and temporal-specific manner. Mutations resulting in heterozygous loss-of-function (LoF) of EHMT1 are implicated in Kleefstra syndrome 1 (KS1).
View Article and Find Full Text PDFEffects of postpartum PTSD on maternal mental health and child socioemotional development - a two-year follow-up study.
BMC Pediatr
November 2024
Department of Psychology, Lomonosov Moscow State University, Moscow, Russia.
Article Synopsis
- Postpartum posttraumatic stress disorder (PP-PTSD) is common yet often overlooked, especially in low- and middle-income countries, impacting both maternal mental health and children's emotional development over time.* ! -
- A study of 419 Russian women found a significant link between PP-PTSD symptoms shortly after childbirth and increased maternal depressive symptoms and child behavioral issues two years later, independent of other depressive conditions.* ! -
- The findings suggest that addressing PP-PTSD is crucial for improving maternal and child outcomes, emphasizing the need for increased awareness and support, particularly in regions like Russia.* !
Mothers' Stress as a Predictor of Preschoolers' Stress in the Context of Parental Practices.
Children (Basel)
October 2024
Federal Scientific Center of Psychological and Multidisciplinary Research, Moscow 125009, Russia.
Background/objectives: Over the past decade, there has been a significant increase in distress among children, as well as in the long-term effects of childhood stress. Parents, particularly mothers, are the most important social partners for preschool-aged children and may help protect them from stress. The current study aims to investigate how parental practices impact children's perceived stress in relation to their mothers' stress.
View Article and Find Full Text PDFExpansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene.
Neurogenetics
November 2024
Article Synopsis
- Autism spectrum disorders (ASDs) are neurodevelopmental disorders marked by social interaction challenges and repetitive behaviors, often seen alongside other conditions like intellectual disability and ADHD.
- Pathogenic variants in the CHD8 gene are among the identified genetic causes of ASDs, influencing brain development and cellular growth during embryogenesis.
- A study found significant CHD8 variants in 6 children and 1 adult, revealing unusual symptoms like hepatomegaly and cardiovascular issues, indicating the need for further research on CHD8's complex interactions with other proteins.
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