Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency

Lipoprotein lipase (LPL) plays a major role in triglyceride (TG)-rich lipoprotein catabolism. A mutation at codon 207 (P207L) in the exon 5 of the LPL gene has been associated with 50% reduction in postheparin plasma LPL activity and significant increase in plasma TG levels in heterozygous individuals with low HDL. However, heterogeneity in fasting TG concentrations among these carriers suggests that other factors may be involved in the expression of this hypertriglyceridemic state. Indeed, previous studies have shown that the rare S2 allele of the APOC3 Sst I polymorphism was associated with higher concentrations of TG levels in noncarriers of LPL defect. Therefore, we investigated the association of the APOC3 Sst I variant on fasting lipoprotein-lipid levels in a sample of 35 heterozygous men bearing the LPL P207L mutation. Genetic association analyses were performed using the two-genotype groups S1/S1 and S1/S2. The genotype S1/S2 group was characterized by greater plasma cholesterol (plasma-C, P=0.02), plasma-TG (P=0.04), very low-density lipoproteins (VLDL)-C (P=0.004), VLDL-TG (P=0.01), VLDL-apolipoprotein B (apoB) (P=0.001) levels and cholesterol/HDL-C ratio (P=0.008), as well as lower VLDL-TG/VLDL-apoB ratio compared to the S1/S1 genotype group. These results support an exacerbating effect of the APOC3 Sst I single-nucleotide polymorphism on fasting TG levels since a large number of smaller VLDL particles are observed in LPL-deficient men bearing the APOC3 S2 allele.     

Targeted gene disruption of murine CD7

CD7 is a 40 kDa type I transmembrane glycoprotein member of the Ig superfamily. CD7 is a marker of mature human T cells and NK cells, and is expressed early in their development. Cross-linking CD7 positively modulates T cell and NK cell activity as measured by calcium fluxes, expression of adhesion molecules, cytokine secretion and proliferation. CD7 associates directly with phosphoinositol 3'-kinase, and CD7 ligation induces production of D-3 phosphoinositides and tyrosine phosphorylation. Severe combined immunodeficiency has been associated with a lack of lymphocyte surface CD7. The CD7 ligand is unknown. The murine CD7 homolog is encoded by a single gene on chromosome 11. In order to characterize the role of CD7 in lymphocyte development and function we have eliminated the CD7 gene by targeted disruption. CD7- deficient mice display normal histology of thymus and spleen, normal lymphocyte populations in primary and secondary lymphoid tissues, and normal serum Ig levels. Specific antibody responses after immunization with T-dependent and T-independent antigens are equivalent in wild-type and CD7 knockout mice. CD7-deficient lymphocytes respond normally to T cell mitogenic and allogeneic stimuli, and display normal NK cell cytotoxicity.      

Contribution of VANGL2 mutations to isolated neural tube defects

Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Contribution of VANGL2 mutations to isolated neural tube defects. Vangl2 was identified as the gene defective in the Looptail (Lp) mouse model for neural tube defects (NTDs). This gene forms part of the planar cell polarity (PCP) pathway, also called the non‐canonical Frizzled/Dishevelled pathway, which mediates the morphogenetic process of convergent extension essential for proper gastrulation and neural tube formation in vertebrates. Genetic defects in PCP signaling have strongly been associated with NTDs in mouse models. To assess the role of VANGL2 in the complex etiology of NTDs in humans, we resequenced this gene in a large multi‐ethnic cohort of 673 familial and sporadic NTD patients, including 453 open spina bifida and 202 closed spinal NTD cases. Six novel rare missense mutations were identified in seven patients, five of which were affected with closed spinal NTDs. This suggests that VANGL2 mutations may predispose to NTDs in approximately 2.5% of closed spinal NTDs (5 in 202), at a frequency that is significantly different from that of 0.4% (2 in 453) detected in open spina bifida patients (p = 0.027). Our findings strongly implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations.     

Iotrol versus metrizamide in lumbar myelography: a double-blind study

In a prospective, randomized, double-blind study, 49 patients underwent lumbar myelography using iotrol (24 patients) or metrizamide (25 patients). The diagnostic imaging adequacy of iotrol was comparable with that of metrizamide. After iotrol myelography, adverse reactions were fewer, less severe, and of shorter duration than were those following metrizamide myelography. Thirteen of 24 patients (54%) receiving iotrol reported some adverse reactions compared with 24 of 25 patients (96%) receiving metrizamide. Five moderate and one severe adverse reaction occurred in the group receiving iotrol. Fourteen moderate and eight severe adverse reactions occurred in the group receiving metrizamide. Thirty-eight patients underwent electroencephalography both before and after myelography (19 iotrol and 19 metrizamide). None of the EEGs obtained after iotrol myelography changed from baseline, while seven of the EEGs obtained after metrizamide myelography showed changes from baseline. Iotrol was judged superior to metrizamide as a contrast medium in this patient population.     

Dental caries status of Dai preschool children in Yunnan Province,China

Background

The Dai people, one of the ethnic minorities in China, have a population of 1,260,000. They have the same origin as one of the main ethnic groups of Laos and Thailand. Most of the Dai live in Yunnan province, which is located in the less-developed southwestern part of China. This study aimed to describe the oral health status of Dai preschool children in China and the factors that influence their oral health status.

Methods

An oral health survey was performed between 2011 and 2012 to select Dai five-year-old children using multi-stage stratified sampling in Yunnan. Their dental caries experience was measured using the “dmft” index, and severe caries was assessed using the “pa” index, which is modified from the “pufa” index. Oral hygiene status was assessed using the visual plaque index (VPI). A questionnaire to study the children’s socio-demographic background and oral health-related behaviours was completed by the children’s parents.

Results

A total of 833 children were examined. Their caries prevalence was 89% and 49% of the children had carious tooth with pulp involvement. The mean (SD) dmft score was 7.0 (5.3). Higher dmft scores were found among children who were girls, were currently bottle-fed, took daily sweet snacks, had higher VPI scores, and had visited a dentist within the last year.

Conclusions

The caries prevalence and experience of the five-year-old Dai children in Yunnan, China was high, and almost half had severe caries. The caries experience was associated with gender, snack habits, dental visit habits, and oral hygiene status.

     

The impact of maternal experience of violence and common mental disorders on neonatal outcomes: a survey of adolescent mothers in Sao Paulo,Brazil

Background  

Both violence and depression during pregnancy have been linked to adverse neonatal outcomes, particularly low birth weight. The aim of this study was to investigate the independent and interactive effects of these maternal exposures upon neonatal outcomes among pregnant adolescents in a disadvantaged population from Sao Paulo, Brazil.     

Must Macrosomic Fetuses be Delivered by a Caesarean Section? A Review of Outcome for 786 Babies ≥ 4,500 g

Because difficult vaginal delivery is more frequent with macrosomic fetuses, some writers recommend routine Caesarean section for the delivery of fetuses greater than or equal to 4,500 g. The purpose of this study was to evaluate the appropriateness of this recommendation. A retrospective review was undertaken to determine how many fetuses born in our hospital weighing greater than or equal to 4,500 g died or were permanently damaged as a consequence of mechanical difficulties at delivery. During a 10-year period, 590 (75%) of 786 cephalic babies weighing greater than or equal to 4,500 g and alive at the start of labour were born vaginally. No baby died or was permanently damaged as a consequence of mechanical difficulties at delivery. Routine Caesarean section for macrosomic fetuses to prevent death or damage from difficult delivery is not warranted by our results.     

Comparison of an elemental with a hydrolysed whey formula in intolerance to cows' milk

In a double blind study, 40 infants with cows' milk intolerance of various causes were randomised to receive a nutritionally complete formula in which nitrogen was supplied either as whey hydrolysate or amino acids. The median age of infants was 10 weeks (range 36 weeks' gestation to 108 weeks' postnatal age). After a median follow up period of 25 weeks there was no significant difference in dietary intake between the formulas. Twenty four weeks after entry, weight and weight for length improved equally on both formulas. Plasma albumin improved significantly on the hydrolysed whey formula but not in the amino acid group. Both milks were palatable and normal intakes of formula were maintained. Biochemical and haematological indices remained within normal limits. There was no difference in stool frequency and vomiting between the two formulas. Two infants developed a probable allergic colitis while receiving hydrolysed whey. Amino acid formula may have a role in the management of atopic infants with severe cows' milk intolerance who have already reacted to whey or casein hydrolysate formula.     

The Significance of Mild Squamous Atypia on Cytology

Summary: Between January, 1991 and February, 1993 inclusive, 396 Papanicolaou smears were reported to show Mild Squamous Atypia with or without Human Papilloma Virus (MSA ± HPV). All women with MSA ± HPV smears were routinely recalled for colposcopy. To determine the significance of MSA ± HPV on routine smear screening, the records of all patients were reviewed.
Three hundred and thirty-seven women (85.1%) attended the colposcopy clinic and are the subjects analyzed for this report. The remaining 59 (14.9%) failed to attend. Intraepithelial neoplasia was found in 61 patients (18.1%), of whom 27 (8.0%) had a high grade lesion (CIN 2 or 3 or GIN 2). No patient had invasive cancer of the cervix. Only 1 of the 45 pregnant women had a significant lesion.
It is concluded that all asymptomatic women with MSA ± HPV on cervical smear may be managed in accordance with the current NH and MRC recommendations (1) and have a repeat smear in 6 months and colposcopy if the abnormality persists at 12 months.