Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

Summary Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arterious, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examination, consistent with DiGeorge syndrome. Evaluation of the asymptomatic mother of these two patients revealed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22qll. These findings provide further evidence that some cases of complete or partial DiGeorge syndrome are associated with monosomy of the proximal long arm of chromosome 22, and they may explain many, if not all, familial cases of the syndrome.Supported in part by National Foundation-March of Dimes Grant No. 2-161/C-331. Funds from the Texas Department of Health through PL94-278 National Genetic Diseases Act, from the Robert J. Kleberg, Jr. Center for Human Genetics, and USPHS Grant No. RR-05425.     

Regulated specific proteolysis of the Cajal body marker protein coilin

Cajal bodies (CB) are subnuclear domains that contain various proteins with diverse functions including the CB marker protein coilin. In this study, we investigate the proteolytic activity of calpain on coilin. Here, we report a 28-kDa cleaved coilin fragment detected by two coilin antibodies that is cell cycle regulated, with levels that are consistently reduced during mitosis. We further show that an in vitro calpain assay with full-length or C-terminal coilin recombinant protein releases the same size cleaved fragment. Furthermore, addition of exogenous RNA to purified coilin induces proteolysis by calpain. We also report that the relative levels of this cleaved coilin fragment are susceptible to changes induced by various cell stressors, and that coilin localization is affected by inhibition or knockdown of calpain both under normal and stressed conditions. Collectively, our data suggest that coilin is subjected to regulated specific proteolysis by calpain, and this processing may play a role in the regulation of coilin activity and CB formation.     

Malnutrition and Childhood Disability in Turkana,Kenya: Results from a Case-Control Study

Background

Children with disabilities may be particularly vulnerable to malnutrition, as a result of exclusions and feeding difficulties. However, there is limited evidence currently available on this subject.

Methods

A population-based case-control study was conducted in Turkana County, Kenya, between July and August 2013. Key informants in the community identified children aged 6 months to 10 years who they believed may have a disability. These children were screened by a questionnaire (UNICEF-Washington Group) and assessed by a paediatrician to confirm whether they had a disability and the type. Two controls without disabilities were selected per case: A sibling control (sibling nearest in age) and a neighbourhood control (nearest neighbour within one year of age). The caregiver completed a questionnaire on behalf of the child (e.g. information on feeding, poverty, illness, education), and anthropometric measures were taken. We undertook multivariable logistic and linear regression analyses to estimate the relationship between disability and malnutrition.

Results

The study included 311 cases with disabilities, 196 sibling controls and 300 neighbour controls. Children with disabilities were more likely to report a range of feeding difficulties. They were 1.6–2.9 times more likely to have malnutrition in comparison to neighbour controls or family controls, including general malnutrition (low weight for age), stunting (low height for age), low body mass index (BMI) or low mid upper arm circumference (MUAC) for age. Children with disabilities were almost twice as likely to have wasting (low weight for height) in comparison to neighbour controls (OR = 1.9, 95% CI 1.1–3.2), but this difference was not apparent compared with siblings (OR = 1.5, 95% CI 0.8–2.7). Children with disabilities also faced other exclusions. For instance those aged 5+ were much more likely not to attend school than neighbour controls (OR = 8.5, 95% CI 4.3–16.9).

Conclusions

Children with disabilities were particularly vulnerable to malnutrition, even within this area of food insecurity and widespread malnutrition. Efforts need to be made to include children with disabilities within food supplementation programmes, and school based programmes alone may be inadequate to meet this need. Exclusion of children with disabilities from education is also a priority area to be addressed.     

Excavating Culture: Disentangling Ethnic Differences From Contextual Influences in Parenting

Historically, much of the research on parenting has not disentangled the influences of race/ethnicity, SES, and culture on family functioning and the development of children and adolescents. This special issue addresses this gap by disentangling ethnic differences in parenting behaviors from their contextual influences, thereby deepening our understanding of parenting processes in diverse families. Six members of the Parenting Section of the Study Group on Race, Culture, and Ethnicity (SGRCE) introduce and implement a novel approach toward understanding this question. The goal of this project is to study culturally related processes and the degree to which they predict parenting. An iterative process was employed to delineate the main parenting constructs (warmth, psychological and behavioral control, monitoring, communication, and self-efficacy), cultural processes, and contextual influences, and to coordinate a data analytic plan utilizing individual datasets with diverse samples to answer the research questions.     

Disentangling Ethnicity and Context as Predictors of Parenting Within Rural African American Families

This study will address the initial question: Are there ethnic differences in parenting that remain when contextual variables are controlled and are related to culture, focusing on two samples of rural African American families. This study is part of a series of coordinated studies presented in this special issue (Le et al., 2008). Specific attention was given to ascertaining whether these differences were explained by contextual factors, such as socioeconomic factors (i.e., parents' educational level, homeownership, family structure, and number of children in the household). Finally, this study examined whether any differences in parenting (warmth, monitoring, communication) were attributed to cultural factors, after controlling for the contributions of contextual factors. Results indicate that parental education, family size, negative life events, racial discrimination, neighborhood characteristics, and religiosity were significantly associated with various domains of parenting among rural African Americans.     

Comparison of Brilliant Green Agar and Hektoen Enteric Agar Media in the Isolation of Salmonellae from Food Products

Brilliant Green (BG) agar and Hektoen enteric (HE) agar media were compared for their efficiency in isolating salmonellae from various food products. Of the 11,226 food specimens examined, 1,662 (or 14.9%) yielded salmonellae. Of this number, 1,475 (88.7%) were recovered from BG agar and 1,315 (79.1%) were recovered from HE agar media. The results indicate that BG agar is more effective in isolating salmonellae from food products. A smaller subsidiary study showed HE agar to be more selective than BG agar. Four hundred ten specimens yielded 92 nonlactose-fermenting isolants other than salmonellae on BG agar and only 11 such isolants on HE agar.     

Evolution Education in Utah: A State Office of Education–University Partnership Focuses on Why Evolution Matters

Several groups of people are essential for effectively teaching the theory of evolution in public schools. Teachers of course are at the leading edge of educating students. However, school district administrators, school boards, state education officers, and university professors all play critical roles in this endeavor. Whereas scientific discoveries and teacher training typically occur at the university level, it is school district leaders and teachers who actually disseminate this information in a way that creates an educated population of students. In this study, we introduce a partnership focused on strengthening evolution education in Utah’s public schools. Our program centers on the importance of evolution as an applied science and one that can be readily integrated throughout the biology curriculum. Our 2-day workshop—conducted in each Utah school district—brings together elected school board members, school district administrators, public school science teachers, and university professors to overcome barriers that can arise when teaching the theory of evolution as part of the 7–12 public school curriculum.     

Coilin levels modulate cell cycle progression and γH2AX levels in etoposide treated U2OS cells

Coilin is considered the Cajal body (CB) marker protein. In this report, we investigated the role of coilin in the DNA damage response and found that coilin reduction correlated with significantly increased levels of soluble γH2AX in etoposide treated U2OS cells. Additionally, coilin levels influenced the proliferation rate and cell cycle distribution of cells exposed to etoposide. Moreover, coilin overexpression inhibited nucleolar localization of endogenous coilin in etoposide treated U2OS cells. Collectively, these data provide additional evidence for coilin and CBs in the DNA damage response.