Intrinsic and extrinsic aspirations of children in conflict with the law

Aspirations provide a driving force for people to achieve what they want in life. The researchers aimed to explore the aspirations of children in conflict with the law, being interested to understand how these children aspire in life given the situation that they are in where they are stigmatized in the society. However, studies about aspirations of CICL were limited, so this research explores their intrinsic and extrinsic aspirations. Semi-structured interview was created based on the Aspirations Index. Eleven CICL, ages 9 to 18 years, were interviewed. The researchers found out that they exhibited intrinsic aspirations more saliently than extrinsic aspirations. Aspirations other than suggested in the Aspiration index were also found namely the spiritual and nurturance aspirations. The results imply that CICL still hope to become better individuals. The study provides better understanding on how they plan to live their lives despite having been in conflict with the law. This paper provides a wider perspective for the community towards CICL, and can be used for further studies in relation to aspirations of Children in Conflict with the Law

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a patient with ulcerative colitis-like VEOIBD. Exome screening of 1,878 pediatric patients identified further seven male inflammatory bowel disease (IBD) patients with rare NOX1 mutations. Loss-of-function was validated in p.N122H and p.T497A, and to a lesser degree in p.Y470H, p.R287Q, p.I67M, p.Q293R as well as the previously described p.P330S, and the common NOX1 SNP p.D360N (rs34688635) variant. The missense mutation p.N122H abrogated reactive oxygen species (ROS) production in cell lines, ex vivo colonic explants, and patient-derived colonic organoid cultures. Within colonic crypts, NOX1 constitutively generates a high level of ROS in the crypt lumen. Analysis of 9,513 controls and 11,140 IBD patients of non-Jewish European ancestry did not reveal an association between p.D360N and IBD. Our data suggest that loss-of-function variants in NOX1 do not cause a Mendelian disorder of high penetrance but are a context-specific modifier. Our results implicate that variants in NOX1 change brush border ROS within colonic crypts at the interface between the epithelium and luminal microbes

Left Ventricular Assist with the Bio-Medicus Pump on a 4-Month Old Infant with Anamalous Left Coronary Artery

This 5.4 kg. (.38 BSA) 4 month old boy was born full term with no significant immediate problems, although the mother had noticed occasional rapid breathing since birth. The child's growth, development and appetite were normal. Eventually, because of the apparent difficulty breathing, the mother took the child to a physician who referred the infant to a cardiologist. A chest x-ray revealed gross cardiomegaly and an echocardiogram reveald an akinetic left ventricular posterior wall with evidence of previous myocardial infarction. The septum displayed normal motion as did the lateral wall. The left ventricular ejection fraction was approximately 20% and evidence of anomalous take-off of the left coronary artery (LCA) off the main pulmonary artery (PA} was noted. The child was referred to Stanford University Hospital for surgical repair to redirect the LCA to the aorta (AO) (J Extra-Corporeal Technol. 21(2): 73-74, 1989

Description of selected characteristics of familial glioma patients – Results from the Gliogene Consortium

BACKGROUND: While certain inherited syndromes (e.g. Neurofibromatosis or Li-Fraumeni) are associated with an increased risk of glioma, most familial gliomas are non-syndromic. This study describes the demographic and clinical characteristics of the largest series of non-syndromic glioma families ascertained from 14 centres in the United States (US), Europe and Israel as part of the Gliogene Consortium. METHODS: Families with 2 or more verified gliomas were recruited between January 2007 and February 2011. Distributions of demographic characteristics and clinical variables of gliomas in the families were described based on information derived from personal questionnaires. FINDINGS: The study population comprised 841 glioma patients identified in 376 families (9797 individuals). There were more cases of glioma among males, with a male to female ratio of 1.25. In most families (83%), 2 gliomas were reported, with 3 and 4 gliomas in 13% and 3% of the families, respectively. For families with 2 gliomas, 57% were among 1st-degree relatives, and 31.5% among 2nd-degree relatives. Overall, the mean (±standard deviation [SD]) diagnosis age was 49.4 (±18.7) years. In 48% of families with 2 gliomas, at least one was diagnosed at <40 y, and in 12% both were diagnosed under 40 y of age. Most of these families (76%) had at least one grade IV glioblastoma multiforme (GBM), and in 32% both cases were grade IV gliomas. The most common glioma subtype was GBM (55%), followed by anaplastic astrocytoma (10%) and oligodendroglioma (8%). Individuals with grades I–II were on average 17 y younger than those with grades III–IV. INTERPRETATION: Familial glioma cases are similar to sporadic cases in terms of gender distribution, age, morphology and grade. Most familial gliomas appear to comprise clusters of two cases suggesting low penetrance, and that the risk of developing additional gliomas is probably low. These results should be useful in the counselling and clinical management of individuals with a family history of glioma