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Parental Mental Health and Child Maltreatment in the COVID-19 Pandemic: Importance of Sampling in a Quantitative Statistical Study.
J Med Internet Res
January 2025
Clinical Psychology and Psychotherapy, Department of Education and Psychology, Freie Universität Berlin, Berlin, Germany.
Background: Results on parental burden during the COVID-19 pandemic are predominantly available from nonrepresentative samples. Although sample selection can significantly influence results, the effects of sampling strategies have been largely underexplored.
Objective: This study aimed to investigate how sampling strategy may impact study results.
Validation of the somatic symptom disorder-B Criteria Scale (SSD-12) in Bangladesh.
PLoS One
January 2025
Department of Clinical Psychology, University of Dhaka, Bangladesh.
Background: The absence of a reliable and valid Bangla instrument for measuring somatic symptom disorder hinders research and clinical activities in Bangladesh. The present study aimed at translating and validating the Somatic Symptom Disorder-B criteria (SSD-12).
Method: A cross-sectional design was used with purposively selected clinical (n = 100) and non-clinical (n = 100) samples.
TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.
J Med Case Rep
January 2025
Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.
Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.
View Article and Find Full Text PDFDNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.
Ital J Pediatr
January 2025
Child Healthcare Department, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, Jiangsu, 210008, China.
Background: This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Methods: A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing.
SOCS1 deficiency-crossroads of autoimmunity and autoinflammation-two case reports.
Front Pediatr
January 2025
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations.
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