The micronucleus assay in human lymphocytes: screening for inter-individual variability and application to biomonitoring

Micronuclei levels were assessed in cytokinesis-blocked lymphocytesof 200 male and female healthy donors not occupationally exposedto genotoxic risks and of 33 male industrial painters handlinggenotoxic substances. Frequency of micronucleated cells was9.87 ±3.1 per 1000 in the control population and wasshown to have a large inter-individual variability. The studyof factors contributing to this variability showed that onlysmoking could affect micronucleated cell rate, inducing an increaseof 25%, whereas age and sex had no effect. Among the industrialpainters, frequency of micronucleated cells averaged 18.30 ±7.39 per 1000: the difference between the two populations studiedwas shown to be statistically significant by the Mann-Whitneyrank sum test (one-sided U test) and indicated that exposedpainters need preventive measures.     

BRAF polymorphisms and risk of melanocytic neoplasia

Somatic mutations of the BRAF gene are common in melanomas and nevi but the contribution of polymorphisms in this gene to melanoma or nevus susceptibility remains unclear. An Australian melanoma case-control sample was typed for 16 single nucleotide polymorphisms (SNP) within the BRAF gene, and five SNP in three neighboring genes. The sample comprised 755 melanoma cases from 740 families stratified by family history of melanoma and controls from 635 unselected twin families (2,239 individuals). Ancestry of the cases and controls was recorded, and the twins had undergone skin examination to assess total body nevus count, degree of freckling, and pigmentation phenotype. Genotyping was carried out via primer extension followed by matrix-assisted laser desorption ionization-time of flight mass spectrometry. SNP in the BRAF gene were found to be weakly associated with melanoma status but not with development of nevi or freckles. The estimated proportion of attributable risk of melanoma due to variants in BRAF is 1.6%. This study shows that BRAF polymorphisms predispose to melanoma but the causal variant has yet to be determined. The burden of disease associated with this variant is greater than that associated with the major melanoma susceptibility locus CDKN2A, which has an estimated attributable risk of 0.2%.     

Implicit association between basic tastes and pitch

Our evaluation of food is influenced by a variety of contextual information perceived via the senses. Here we investigated whether there are interactions between auditory stimuli and basic tastes (indicated by the names of typically sour and bitter foods). Participants took part in a version of the Implicit Association Test (IAT) in order to measure the strength of the association between high-pitched sounds and (the names of) foodstuffs having a sour taste, and between low-pitched sounds and (the names of) foodstuffs having a bitter taste. Analysis of the latency and accuracy of participants’ responses highlighted the existence of a significant crossmodal association between these different attributes. This result suggests the need for research into the influence of auditory stimuli on food evaluation, an interaction that has typically been overlooked when considering the multisensory perception of food.     

Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography

BACKGROUND: Prenatal diagnosis of multiple congenital anomalies is difficult, and usually molecular biology cannot immediately confirm the suspected syndrome. Fetal dysmorphology is useful tool in the diagnosis process, with limitations. METHODS: We report the thorough prenatal investigation by 2D and 3D ultrasonography in a case of suspected Costello syndrome. RESULTS: Prenatal abnormalities were: increased nuchal translucency, polyhydramnios, bilateral pyelectasis and ventriculomegaly. Ultrasonographic morphological fetal face analysis found abnormal thickness of the skin in the prefrontal area, thick dysplastic ears, thick lips and deep-set creases in the hands and feet. As Costello and Noonan syndromes overlap, a PTPN11 analysis was done, with presence of a mutation (T854C). CONCLUSION: Prenatal overlap of feature of severe Noonan syndrome and Costello syndrome is confirmed, with dysmorphological similarities, due to edema of fetal skin in face and extremities.     

Sirenomelia as a part of VACTERL association: a study of three cases

Sirenomelia, characterized by a fusion of lower limb buds, is rare. Moreover, the coexistence of this malformation with a VACTERL sequence is exceptional. We report, here, three new observations associating these two diseases on fetuses from 14 to 26 weeks gestation. With these three new cases associating sirenomelia and VACTERL, observed in our unit and examined in light of data from the medical literature, we discuss the embryologic origin of such malformations and the nosologic frontiers between these two diseases.     

The challenges of pain measurement in critically ill young children: a comprehensive review.

This article addresses the issues in measuring pain in critically ill children, provides a comprehensive review of the pain measures for children aged between 0 and 3 years, and discusses their applicability to this group of children. When children are critically ill, pain can only exacerbate the stress response that already exists, to the extent that homeostasis cannot be maintained. Severity of illness is thus likely to affect physiologic and behavioural pain responses that would normally be demonstrated in healthy children. The problem of differentiating pain from other constructs adds to the complexity of assessing pain in non-verbal children. A pain measure to be useful clinically must be adapted to the developmental age of the target population. Search of electronic databases and other electronic sources was supplemented by hand review of relevant journals to identify published and unpublished pain measures for use in children aged between 0 and 3 years. Twenty eight pain measures were identified in the literature; 11 for neonates only, 11 for children aged between 0 and 3 years, and six for children more than 12 months. These measures vary in relation to their psychometric properties, clinical utility and the context in which the study was performed. These measures may not be suitable for the critically ill young child, because the items included were derived from observations of healthy or moderately sick children, and may not reflect pain behaviour in those who are critically ill. It is therefore recommended to develop new pain scales for this population of compromised children.     

Recombinant activated factor VII as a life-saving therapy for severe postpartum haemorrhage unresponsive to conservative traditional management

Postpartum haemorrhage remains the main cause of maternal morbidity and mortality. Treatment aims at maintaining hemodynamic circulation and preventing shock by stopping blood loss both medically and surgically. We report two cases of major postpartum haemorrhage due to uterine atony. Patients developed haemorrhagic shock and severe coagulation disorders (nadir values of PTT were <10% and fibrinogen was <0.1 g/l). Well-codified medical (ocytocin, sulprostone) and surgical management (ligation of both hypogastic arteries in the two cases completed by staged uterine ligation in one case) failed to stop bleeding. Recently, several case reports described successful use of recombinant activated factor VII (rFVIIa) in scheduled surgery, trauma and major postpartum haemorrhage. Thus, after transfusion of more than one blood mass and failure of surgical haemostasis to stop bleeding, rFVIIa (60 microg/kg) was given. A single iv bolus injection stopped ongoing diffuse haemorrhage in the two cases. No further transfusion was required afterwards in both patients. RFVIIa might thus be a strong complementary agent in the management of major postpartum haemorrhage. Optimal dose, timing and safety characteristics of rVIIa administration remain to be determined. One patient developed four weeks later thrombosis of both ovarian veins, a complication that can be related to either rFVIIa or to the staged uterine ligations performed during surgery.