Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry.

The VISAGE Enhanced Tool for Appearance and Ancestry (ET) has been designed to combine markers for the prediction of bio-geographical ancestry plus a range of externally visible characteristics into a single massively parallel sequencing (MPS) assay. We describe the development of the ancestry panel markers used in ET, and the enhanced analyses they provide compared to previous MPS-based forensic ancestry assays. As well as established autosomal single nucleotide polymorphisms (SNPs) that differentiate sub-Saharan African, European, East Asian, South Asian, Native American, and Oceanian populations, ET includes autosomal SNPs able to efficiently differentiate populations from Middle East regions. The ability of the ET autosomal ancestry SNPs to distinguish Middle East populations from other continentally defined population groups is such that characteristic patterns for this region can be discerned in genetic cluster analysis using STRUCTURE. Joint cluster membership estimates showing individual co-ancestry that signals North African or East African origins were detected, or cluster patterns were seen that indicate origins from central and Eastern regions of the Middle East. In addition to an augmented panel of autosomal SNPs, ET includes panels of 85 Y-SNPs, 16 X-SNPs and 21 autosomal Microhaplotypes. The Y- and X-SNPs provide a distinct method for obtaining extra detail about co-ancestry patterns identified in males with admixed backgrounds. This study used the 1000 Genomes admixed African and admixed American sample sets to fully explore these enhancements to the analysis of individual co-ancestry. Samples from urban and rural Brazil with contrasting distributions of African, European, and Native American co-ancestry were also studied to gauge the efficiency of combining Y- and X-SNP data for this purpose. The small panel of Microhaplotypes incorporated in ET were selected because they showed the highest levels of haplotype diversity amongst the seven population groups we sought to differentiate. Microhaplotype data was not formally combined with single-site SNP genotypes to analyse ancestry. However, the haplotype sequence reads obtained with ET from these loci creates an effective system for de-convoluting two-contributor mixed DNA. We made simple mixture experiments to demonstrate that when the contributors have different ancestries and the mixture ratios are imbalanced (i.e., not 1:1 mixtures) the ET Microhaplotype panel is an informative system to infer ancestry when this differs between the contributors.

Is ilioinguinal/iliohypogastric nerve block always totally safe in children?

We report a case of accidental puncture of the small bowel during an ilioinguinal/iliohypogastric nerve block procedure for hernia repair. The diagnosis was made a few days later during a laparoscopic exploration owing to the progressive onset of clinical and radiological intestinal obstruction. A large, obstructing subserosal haematoma was found without any apparent perforation of the mucosa, and the damaged loop was resected. Such a complication has already been reported once in the literature after use of a long bevel needle for the puncture. This case is the first reported using an atraumatic short bevel needle. We discuss the technical aspects of the procedure and underline the fact that regional anaesthesia in children is never totally risk free.

Asthma in life context: Video Intervention/Prevention Assessment (VIA)

OBJECTIVE: Video Intervention/Prevention Assessment (VIA) was developed to determine whether medical information gathering might be augmented by video diaries created by patients to show clinicians the realities of managing chronic disease in the contexts of their lives. DESIGN: Children and adolescents who met National Heart, Lung, and Blood Institute criteria for moderate or severe asthma were enrolled from an urban pediatric hospital and an inner-city health center. Comprehensive, asthma-specific medical histories were obtained from study participants in standard clinical interviews. Participants were trained to use video camcorders and recorded visual narratives of how they lived with and managed their asthma over a 4- to 8-week period. These visual narratives were screened by a trained observer, who completed the initial comprehensive medical history based solely on viewing the video. Information from participants' medical history interviews was compared with observations of their visual narratives. RESULTS: Twenty young people 8 to 25 years old completed the VIA Asthma study. Important variations were found between participants' medical history interviews and their visual narratives. All 20 participants reported specific environmental triggers for their asthma; 19 had 1 or more of these triggers documented on video in their daily living environments (video illustrations online, available at: ). Exposures to known triggers ranged from 25% (noxious fumes) to 91% (mold). Exposure to tobacco smoke that was denied in the interview was revealed on video in 63%. The 18 participants who revealed medication use in their visual narratives were assessed for adherence: 33% exceeded prescribed doses, 28% discontinued medications without consulting a clinician, and 72% used ineffective inhaler technique. CONCLUSIONS: VIA visual narratives extended a comprehensive, standard of care medical history, yielding a more complete and accurate understanding of exacerbating environmental exposures and inappropriate medication usage of children and adolescents with asthma. VIA is an effective tool for revealing the physical and psychosocial environments in which young people live with disease. Patient-created video can enrich our understanding of the illness experiences of children and adolescents. VIA has the potential to enhance clinical data gathering, guide the development of more effective and sensitive management strategies, and educate clinicians about the realities of the young person living with illness.

Shear bond strength of a light-cured resin composite vs. dentin characteristics.

OBJECTIVES: The aim of this work was to determine if any significant correlation can be found between dentin characteristics and the shear bond strength of a bonded resin composite. METHODS: The number of tubules, the diameter of tubules, the real dentin surface (RDS), the Vickers hardness (VHN), and the Ca and P concentrations ([Ca] and [P]) were measured. Two commercial bonding systems, the All-Bond 2 (Bisco) and Scotchbond 2 (3M Dental Products), were tested on 70 extracted human molars purposely abraded and polished. Experimental results were statistically analyzed. RESULTS: The average bond strength ranged from 9.1 +/- 5.3 MPa (All-Bond 2) to 3.2 +/- 1.9 MPa (Scotchbond 2). Only the Bisco adhesive gave rise to cohesive dentin fractures. The Vickers hardness depended on both the real dentin surface and the calcium concentration according to the empirical law: VHN = 0.753 RDS + 0.320 [Ca] - 16.330. The shear bond strength does not depend on the measured dentin characteristics. SIGNIFICANCE: Under these testing conditions, the nature of the surface composite determined the adhesion; the properties of the dentin substrate were of minor importance.

[Histochemical and morphometric study of the changes induced by the absorption of sodium fluoride on the submaxillary and sublingual glands in the rat]. / Etude histochimique et morphométrique des modifications induites par l'absorption de fluorure de sodium sur les glandes sous-maxillaires et sublinguales chez le rat.

Three groups of Osborn Mendel rats received for two weeks either drinking water without addition of fluorides (control rats) or drinking water containing respectively 50 and 100 ppm of sodium fluoride. The histochemical study of the submaxillary and sublingual glands showed a very strong decrease in the polysaccharide and protein stainings in the 100 ppm group, whereas the 50 ppm group showed similar reactions to the control group. The morphometric study showed a strong decrease of the acinar and canalicular surfaces mainly in the submandibular gland. Thus the absorption of high doses of sodium fluoride induced in these two salivary glands morphological changes of the secretory cellular units. An indirect way of action can thus be exerted in the oral cavity.

[Induction of hepatic tyrosine transaminase in rats by phenothiazine derivatives and analogs]. / Induction de la tyrosine-transaminase de foie de rat sous l'effet de dérivés phénothiaziniques et chimiquement apparentes.

We have showed induction of tyrosine-alpha-ketoglutarate transaminase in hepatic cytosol of Rats (Wistar strain) five hours after intraperitoneal administration of tricyclic compounds (phenothiazine, iminodibenzyl, thioxanthene, thiophenylpyridylamin, dibenzocycloheptadiene, dibenzoxepin derivatives). Chemical structure of these molecules is very important: sulfur atom (phenothiazine, thioxanthene), some substituants like chlorine (chlorpromazine, chlorprothixene) and 2'-dimethylaminopropyl chain (promethazine) increase this inductive effect.

[Mechanism of induction of tyrosine in rat liver by phenothiazine derivatives and related chemical compounds]. / Approche du mécanisme d'induction de la tyrosine transaminase de foie de Rat par des dérivés phénothiaziniques et chimiquement apparentés.

Increase of hepatic tyrosine-alpha-ketoglutarate transaminase is observed in Rats (Wistar strain) after intraperitoneal administration of tricyclic compounds (phenothiazin and related structure derivatives). This is an induction process: actinomycine D inhibits this effect. This action is not mediated by glucocorticoids: induction persists in adrenalectomized Rats. The mechanism of action is different too: additive effects are found after simultaneous injection of glucocorticoid and tricyclic drug.

[Circadian rhythms in man. Their incidence in endocrinology (author's transl)]. / Les rythmes biologiques chez l'homme. Leur incidence en endocrinologie.

The authors, after a classification of the main biological rhythms, mention the parameters of the circadian rhythm deduced by mathematical analysis of so-called "Cosinor". They then devote their study to the main hormones, the secretion of which depends on circadian periodicity. They emphasize the effect that their biorhythm has on the value of plasma concentrations depending on the time of sampling. They suggest standardisation of this time in drawing up international norms.