Search results for "RJ1-570"

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

2020

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…

Lymphocyte apoptosis in children with central nervous system tuberculosis: a case control study

2011

Abstract Background Studies of the apoptosis mechanisms involved in the pathogenesis of tuberculosis have suggested that Mycobacterium tuberculosis can actively interfere with the apoptosis of infected cells. In vivo studies have been performed in adult populations but have not focused on this process in children. In the present study, we analyzed spontaneous T lymphocyte (PBT) apoptosis in the peripheral blood of children with central nervous system tuberculosis (CNS TB), before and after chemotherapy, and compared the results with healthy controls. Methods A case-control study was conducted from January 2002 to June 2009. It included 18 children with CNS TB and 17 healthy controls. Sponta…

Acute Respiratory Distress Syndrome Associated with Tumor Lysis Syndrome in a Child with Acute Lymphoblastic Leukemia

2015

Tumor lysis syndrome is a serious and dangerous complication usually associated with antiblastic treatment in some malignancies characterized by high cell turn-over. Mild or severe electrolyte abnormalities including high serum levels of uric acid, potassium, phosphorus, creatinine, bun and reduction of calcium can be responsible for multi-organ failure, involving mostly kidneys, heart and central nervous system. Renal damage can be followed by acute renal failure, weight gain, progressive liver impairment, overproduction of cytokines, and subsequent maintenance of multi-organ damage. Life-threatening acute respiratory failure associated with tumor lysis syndrome is rare. We describe a chil…

Usefulness of chest ultrasound in a neonatal infection due to SARS-CoV-2

2021

Coping strategies and locus of control in childhood leukemia: a multi-center research

2015

Acute lymphoblastic leukemia (ALL) is a very distressing experience for children and requires a special effort of adjustment. Therefore, it seems to be crucial to explore coping resources for the experienced risk condition. In this sense, the study focuses on coping strategies and locus of control in children with ALL during the treatment phase, and on their possible relation. The correlation between children and maternal coping strategies is also investigated. The participants involved were an experimental group of 40 children with ALL and their mothers, and 30 healthy children as the control group. The tools used were: the Child Behavioral Style Scale and the Monitor-Blunter Style Scale t…

Beyond BMI : waist circumference and social environment is associated with motor performance ability in kindergartners

2020

Abstract Background The aim of the current study was to examine the relationship between anthropometric characteristics (i.e. body height, body weight, body mass index [BMI] and waist circumference [WC]) with motor performance ability [MPA], social environmental factors of the district (i.e. employment status/working life, education, social situation/heterogeneity and home environment), where the respective kindergarten was located, as well as other potential health determinants in a representative sample of kindergartners. Methods We analyzed data of 434 children aged 3 to 6 years which were obtained from a community-based cross-sectional health study conducted in the city of Mainz, German…

Open availability of articles and raw research data in spanish pediatrics journals

2015

[EN]: Introduction: The open Access to publications and the raw data allows its re-use and enhances the advancement of science. The aim of this paper is to identify these practices in Spanish pediatrics journals. Method: We reviewed the author's instructions in 13 Spanish pediatrics journals, identifyingtheir open access and deposit policy. Results: Eight journals allow open access without restriction, and 5 provide information on theability to re-use and depositing data in repositories or websites. Conclusions: Most of the journals have open access, but do not promote the deposit of additionalmaterial or articles in repositories or websites.

Angiomas en penacho en la infancia. Serie de 9 casos y revisión de la literatura

2015

Resumen: Introducción: El angioma en penacho o tufted angioma (TA) es una tumoración vascular benigna poco frecuente, que suele aparecer en la infancia, aunque existen casos de aparición en la edad adulta. Su presentación clínica es muy variable. Se manifiesta típicamente como una mácula, pápula o nódulo eritematovioláceo en el tronco o el cuello. Histológicamente, se caracteriza por agregados de lóbulos angiomatosos en la dermis formando pequeños penachos de capilares. Pacientes y métodos: Estudio retrospectivo observacional de los casos diagnosticados de TA en los últimos 20 años en nuestro centro. Resultados: Presentamos un total de 9 casos de angiomas en penacho en la infancia. El 77,7%…

Italian inter-society expert panel position on radiological exposure in Neonatal Intensive Care Units.

2020

Abstract Background In the recent years, clinical progress and better medical assistance for pregnant women, together with the introduction of new complex technologies, has improved the survival of preterm infants. However, this result requires frequent radiological investigations mostly represented by thoracic and abdominal radiographs in incubators. This document was elaborated by an expert panel Italian inter-society working group (Radiologists, Paediatricians, Medical Physicists) with the aim to assist healthcare practitioners in taking choices involving radiation exposures of new-born infants and to provide practical recommendations about justification and optimization in Neonatal Inte…

The Playing Brain. The Impact of Video Games on Cognition and Behavior in Pediatric Age at the Time of Lockdown: A Systematic Review

2021

A growing number of children and adolescents play video games (VGs) for long amounts of time. The current outbreak of the Coronavirus pandemic has significantly reduced outdoor activities and direct interpersonal relationships. Therefore, a higher use of VGs can become the response to stress and fear of illness. VGs and their practical, academic, vocational and educational implications have become an issue of increasing interest for scholars, parents, teachers, pediatricians and youth public policy makers. The current systematic review aims to identify, in recent literature, the most relevant problems of the complex issue of playing VGs in children and adolescents in order to provide sugges…