Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Background: Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. Methods and Results: A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC array CGH screen identified five patients with deletions and five with apparently reciprocal duplications of 16p13 covering 1.65 Mb, including 15 RefSeq genes. In addition, three atypical rearrangements overlapping or flanking this region were found. Fine mapping by high-resolution oligonucleotide arrays suggests that these deletions and duplications result from non-allelic homologous recombination (NAHR) between distinct LCR16 subunits with >99% sequence identity. Deletions and duplications were either de novo or inherited from unaffected parents. To determine whether these imbalances are associated with the MR/MCA phenotype or whether they might be benign variants, a population of 2014 normal controls was screened. The absence of deletions in the control population showed that 16p13.11 deletions are significantly associated with MR/MCA (p = 0.0048). Despite phenotypic variability, common features were identified: three patients with deletions presented with MR, microcephaly and epilepsy (two of these had also short stature), and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects. In contrast to its previous association with autism, the duplication seems to be a common variant in the population (5/1682, 0.29%). Conclusion: These findings indicate that deletions inherited from clinically normal parents are likely to be causal for the patients' phenotype whereas the role of duplications (de novo or inherited) in the phenotype remains uncertain. This difference in knowledge regarding the clinical relevance of the deletion and the duplication causes a paradigm shift in (cyto) genetic counselling

Characterization of the behavior of carotenoids from pitanga (Eugenia uniflora) and buriti (Mauritia flexuosa) during microemulsion production and in a dynamic gastrointestinal system

Uncommon tropical fruits are emerging as raw-material for new food products with health benefits. This work aimed at formulating and processing microemulsions from pitanga (Eugenia uniflora) and buriti (Mauritia flexuosa) fruits, since they are very rich in carotenoids (particularly lycopene and -carotene), in order to encapsulate and increase carotenoids bioaccessibility. Pitanga and buriti microemulsions were produced by applying a direct processing (high-speed homogenization at 15,000 rpm and ultrasound with 20 kHz probe at 40% amplitude) of the whole pulp together with surfactant (Tween 80 or Whey Protein Isolate at 2%) and corn oil (5%). All treatments (HSHUS for 04, 40, 44, 48 minmin) applied were able to increase the amount of carotenoid released. However, the processing also decreased the total amount of carotenoids in the whole pulp of studied fruits. The impact of processing during microemulsion production was not severe. The overall data suggest that the presence of surfactant and oil during processing may protect the carotenoids in fruits and microemulsions. Final recovery of total carotenoids, after passing the samples through a dynamic gastrointestinal system that simulates the human digestion, was higher for microemulsions than for whole pulps. High losses of total carotenoids in buriti and -carotene and lycopene in pitanga occurred during jejunum and ileum phases. The present work confirms that it is possible to increase -carotene and lycopene bioaccessibility from fruits by directly processing microemulsions (p<0.01).This work was supported by the São Paulo Research Foundation—FAPESP through research funding [Grant #2015/15507-9] and Ph.D. scholarship for Paulo Berni [Grant #2014/15119-6] and a Research Internships Abroad (BEPE) support [Grant #2016/13355-0]. The author Ana C. Pinheiro is recipient of a fellowship from the Portuguese Foundation for Science and Technology (FCT) [Grant SFRH/BPD/101181/2014]info:eu-repo/semantics/publishedVersio

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

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

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