Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome

The neurobiology of mouse models syntenic to human chromosome 15q

Autism is a neurodevelopmental disorder that manifests in childhood as social behavioral abnormalities, such as abnormal social interaction, impaired communication, and restricted interest or behavior. Of the known causes of autism, duplication of human chromosome 15q11–q13 is the most frequently associated cytogenetic abnormality. Chromosome 15q11–q13 is also known to include imprinting genes. In terms of neuroscience, it contains interesting genes such as Necdin, Ube3a, and a cluster of GABAA subunits as well as huge clusters of non-coding RNAs (small nucleolar RNAs, snoRNAs). Phenotypic analyses of mice genetically or chromosomally engineered for each gene or their clusters on a region of mouse chromosome seven syntenic to human 15q11–q13 indicate that this region may be involved in social behavior, serotonin metabolism, and weight control. Further studies using these models will provide important clues to the pathophysiology of autism. This review overviews phenotypes of mouse models of genes in 15q11–q13 and their relationships to autism

Comparison of Vacuum Treatments and Traditional Cooking Using Instrumental and Sensory Analysis

The purpose of this work was to compare carrots with similar firmness cooked by traditional cooking and two vacuum treatments: sous-vide (SV) and cook-vide (CV). As a first step, consumers determined the preferred level of firmness for carrots cooked by traditional cooking (boiling). This level corresponded to instrumental firmness of 2.8 N in phloem tissue and 4.1 N in xylem tissue. Response surface methodology (RSM) established the pairing conditions of time (22 to 78 min) and temperature (78 to 92 °C) to study the effect of both factors on the firmness of carrots with sous-vide and cook-vide treatments. In both treatments, the instrumental firmness of phloem and xylem samples was measured and modeled. No significant differences were found in firmness values between phloem and xylem tissue of samples cooked by vacuum treatments (CVand SV). For CV treatment, firmness decreased linearly with time and temperature, while for SV treatment it followed a second-order model. Based on the model, conditions of time and temperature to achieve the preferred firmness (2.8 N) were selected for both treatments. Finally, consumers compared the sensory properties of carrots cooked by traditional cooking, sous-vide, and cook-vide with paired comparison tests evaluating three pairs of samples. Carrots cooked by cook-vide were considered less tasty than sous-vide and traditional cooking carrots. Carrots using traditional cooking were firmer than those obtained with SV and CV treatments. Carrots cooked by traditional and sous-vide treatments were preferred to cook-vide ones for the taste.Consuelo Iborra- Bernad has received research grant from the Generalitat Valenciana. Amparo Tarrega was financially supported by the Juan de la Cierva program. Purificacion Garcia-Segovia declares that she has no conflict of interest. Javier Martinez-Monzo declares that he has no conflict of interest. This article does not contain any studies with human or animal subjects.Iborra Bernad, MDC.; Tarrega, A.; García Segovia, P.; Martínez Monzó, J. (2014). Comparison of Vacuum Treatments and Traditional Cooking Using Instrumental and Sensory Analysis. Food Analytical Methods. 7(2):400-408. doi:10.1007/s12161-013-9638-0S40040872Alasalvar C, Grigor J, Quantick P (1999) Method for the static headspace analysis of carrot volatiles. Food Chem 65:391Arcia P, Costell E, Tárrega A (2010) Thickness suitability of prebiotic dairy desserts: Relationship with rheological properties. Food Res Int 43:2409Baldwin DE (2012) Sous vide cooking: A review. Int J Gastronomy Food Sci 1:15Bourne MC (2002) Food texture and viscosity: concept and measurement. Academic, San DiegoDauchet L, Amouyel P, Hercberg S, Dallongeville J (2006) Fruit and vegetable consumption and risk of coronary heart disease: a meta-analysis of cohort studies. J Nutr 136:2588Fan L, Zhang M, Xiao G, Sun J, Tao Q (2005) The optimization of vacuum frying to dehydrate carrot chips. Int J Food Sci Tech 40:911Furfaro M, Marigheto N, Moates G, Cross K, Parker M, Waldron K, Hills B (2009) Multidimensional NMR cross-correlation relaxation study of carrot phloem and xylem. Part II: Thermal and high-pressure processing. Appl Magn Reson 35:537Gacula JRM, Rutenbeck S, Pollack L, Resurreccion AVA, Moskowitz HR (2007) The Just‐About‐Right intensity scale: functional analyses and relation to hedonics. J Sens Stud 22:194Gan HE, Karim R, Muhammad SKS, Bakar JA, Hashim DM, Rahman RA (2007) Optimization of the basic formulation of a traditional baked cassava cake using response surface methodology. LWT- Food Sci Technol 40:611García-Segovia P, Andrés-Bello A, Martínez-Monzó J (2008) Textural properties of potatoes (Solanum tuberosum L., cv. Monalisa) as affected by different cooking processes. J Food Eng 88:28García-Segovia P, Barreto-Palacios V, Iborra-Bernad C, Andrés-Bello A, González-Carrascosa R, Bretón J, Martínez-Monzó J (2012) Improvement of a culinary recipe by applying sensory analysis: Design of the New Tarte Tatin. Int J Gastronomy Food Sci 1:54Greve LC, Mcardle RN, Gohlke JR, Labavitch JM (1994a) Impact of heating on carrot firmness: changes in cell wall components. J Agric Food Chem 42:2900Greve LC, Shackel KA, Ahmadi H, Mcardle RN, Gohlke JR, Labavitch JM (1994b) Impact of heating on carrot firmness: contribution of cellular turgor. J Agric Food Chem 42:2896Hudson BT (1993) Industrial cuisine. Cornell Hotel Restaur Adm Q 34:73Hui YH, Chen F, Nollet LML et al (2010) Handbook of fruit and vegetable flavors. Wiley, HonokenIborra-Bernad C, Philippon D, García-Segovia P, Martinez-Monzo J (2013) Optimizing the texture and color of sous-vide and cook-vide green bean pods. LWT- Food Sci Technol 51:507ISO (2005) Sensory analysis. Methodology. Paired comparison test. Standard No. 5495. International Organization for Standardization. Geneva, SwitzerlandKjeldsen F, Christensen LP, Edelenbos M (2001) Quantitative analysis of aroma compounds in carrot (Daucus carota L.) cultivars by capillary gas chromatography using large-volume injection technique. J Agric Food Chem 49:4342Kuehl RO (2000) Design of experiments: statistical principles of research design and analysis. Duxbury, New YorkLeskova E (2006) Vitamin losses: retention during heat treatment and continual changes expressed by mathematical models. J Food Compos Anal 19:252Martínez-Hernández GB, Artés-Hernández F, Colares-Souza F, Gómez PA, García-Gómez P, Artés F (2013) Innovative cooking techniques for improving the overall quality of a Kailan-hybrid broccoli. Food Bioprocess Tech 1:1. doi: 10.1007/S11947-012-0871-0Mckenna BM, Kilcast D (2004) Texture in food: solid foods. WoodheadMente A, De Koning L, Shannon HS, Anand SS (2009) A systematic review of the evidence supporting a causal link between dietary factors and coronary heart disease. Arch Intern Med 169(659)Montgomery DC, Runger GC (2010) Applied statistics and probability for engineers. Wiley, United States of AmericaMyers RH, Montgomery DC (2002) Response surface methodology: process and product optimization using designed experiments. Wiley, New YorkRiboli E, Norat T (2003) Epidemiologic evidence of the protective effect of fruit and vegetables on cancer risk. Am J Clin Nutr 78:559sRinaldi M, Dall'asta C, Meli F, Morini E, Pellegrini N, Gatti M, Chiavaro E (2012) Physicochemical and Microbiological Quality of Sous-Vide-Processed Carrots and Brussels Sprouts. Food Bioprocess Tech 1Sanchez H, Osella C, De La Torre M (2004) Use of response surface methodology to optimize glutenfree bread fortified with soy flour and dry milk. Food Sci Technol Int 10:5Schellekens M (1996) New research issues in sous-vide cooking. Trends Food Sci Technol 7:256Van Buggenhout S, Sila DN, Duvetter T, Van Loey A, Hendrickx M (2009) Pectins 58 in processed fruits. Compr Rev Food Sci F 8:105Villegas B, Tárrega A, Carbonell I, Costell E (2010) Optimising acceptability o 39 f new prebiotic low-fat milk beverages. Food Qual Prefer 21:23

Status Update and Interim Results from the Asymptomatic Carotid Surgery Trial-2 (ACST-2)

Objectives: ACST-2 is currently the largest trial ever conducted to compare carotid artery stenting (CAS) with carotid endarterectomy (CEA) in patients with severe asymptomatic carotid stenosis requiring revascularization. Methods: Patients are entered into ACST-2 when revascularization is felt to be clearly indicated, when CEA and CAS are both possible, but where there is substantial uncertainty as to which is most appropriate. Trial surgeons and interventionalists are expected to use their usual techniques and CE-approved devices. We report baseline characteristics and blinded combined interim results for 30-day mortality and major morbidity for 986 patients in the ongoing trial up to September 2012. Results: A total of 986 patients (687 men, 299 women), mean age 68.7 years (SD ± 8.1) were randomized equally to CEA or CAS. Most (96%) had ipsilateral stenosis of 70-99% (median 80%) with contralateral stenoses of 50-99% in 30% and contralateral occlusion in 8%. Patients were on appropriate medical treatment. For 691 patients undergoing intervention with at least 1-month follow-up and Rankin scoring at 6 months for any stroke, the overall serious cardiovascular event rate of periprocedural (within 30 days) disabling stroke, fatal myocardial infarction, and death at 30 days was 1.0%. Conclusions: Early ACST-2 results suggest contemporary carotid intervention for asymptomatic stenosis has a low risk of serious morbidity and mortality, on par with other recent trials. The trial continues to recruit, to monitor periprocedural events and all types of stroke, aiming to randomize up to 5,000 patients to determine any differential outcomes between interventions. Clinical trial: ISRCTN21144362. © 2013 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin Sequence

Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3′ of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between PLCL1 and SATB2. We identified three putative cis-regulatory elements (CRE1–3) using a comparative genomic approach each of which would be placed in trans relative to SATB2 by all three BPs. CRE1–3 each bind p300 and mono-methylated H3K4 consistent with enhancer function. In silico analysis suggested that CRE1–3 contain one or more conserved SOX9-binding sites, and this binding was confirmed using chromatin immunoprecipitation on cells derived from mouse embryonic pharyngeal arch. Interphase bacterial artificial chromosome fluorescence in situ hybridization measurements in embryonic craniofacial tissues showed that the orthologous region in mice exhibits Satb2 expression-dependent chromatin decondensation consistent with Satb2 being a target gene of CRE1–3. To assess their in vivo function, we made multiple stable reporter transgenic lines for each enhancer in zebrafish. CRE2 was shown to drive SATB2-like expression in the embryonic craniofacial region. This expression could be eliminated by mutating the SOX9-binding site of CRE2. These observations suggest that SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw

Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media

Chronic otitis media (OM) is common in Down syndrome (DS), but underlying aetiology is unclear. We analysed the entire available mouse resource of partial trisomy models of DS looking for histological evidence of chronic middle-ear inflammation. We found a highly penetrant OM in the Dp(16)1Yey mouse, which carries a complete trisomy of MMU16. No OM was found in the Dp(17)1Yey mouse or the Dp(10)1Yey mouse, suggesting disease loci are located only on MMU16. The Ts1Cje, Ts1RhR, Ts2Yah, and Ts65Dn trisomies and the transchomosomic Tc1 mouse did not develop OM. On the basis of these findings, we propose a two-locus model for chronic middle-ear inflammation in DS, based upon epistasis of the regions of HSA21 not in trisomy in the Tc1 mouse. We also conclude that environmental factors likely play an important role in disease onset

L'ère post-industrielle: un défi pour la politique sociale

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