Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group of patients, but it is very costly for large-scale use in developing countries. We evaluated the use of a combination of Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase the detection rate of chromosomal abnormalities in MCA/MR patients. We screened 261 MCA/MR patients with two subtelomeric and one microdeletion kits. This would theoretically detect up to 70% of all submicroscopic abnormalities. Additionally we scored the de Vries score for 209 patients in an effort to find a suitable cut-off for MLPA screening. Our results reveal that chromosomal abnormalities were present in 87 (33.3%) patients, but only 57 (21.8%) were considered causative. Karyotyping detected 15 abnormalities (6.9%), while MLPA identified 54 (20.7%). Our combined MLPA screening raised the total detection number of pathogenic imbalances more than three times when compared to conventional karyotyping. We also show that using the de Vries score as a cutoff for this screening would only be suitable under financial restrictions. A decision analytic model was constructed with three possible strategies: karyotype, karyotype + MLPA and karyotype + WGAS. Karyotype + MLPA strategy detected anomalies in 19.8% of cases which account for 76.45% of the expected yield for karyotype + WGAS. Incremental Cost Effectiveness Ratio (ICER) of MLPA is three times lower than that of WGAS, which means that, for the same costs, we have three additional diagnoses with MLPA but only one with WGAS. We list all causative alterations found, including rare findings, such as reciprocal duplications of regions deleted in Sotos and Williams-Beuren syndromes. We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP that confounded the analysis of the 22q13.3 deletion syndrome. (C) 2011 Elsevier Masson SAS. All rights reserved.

Olfaction in the Queensland fruit fly, Bactrocera tryoni. II: Response spectra and temporal encoding characteristics of the carbon dioxide receptors

Single-unit electrophysiology was used to record the nerve impulses from the carbon dioxide receptors of female Queensland fruit flies, Bactrocera tryoni. The receptors responded to stimulation in a phasic-tonic manner and also had a period of inhibition of the nerve impulses after the end of stimulation, at high stimulus intensities. The cell responding to carbon dioxide was presented with a range of environmental odorants and found to respond to methyl butyrate and 2-butanone. The coding characteristics of the carbon dioxide cell and the ability to detect other odorants are discussed, with particular reference to the known behavior of the fly.

Professional and community satisfaction with the Brazilian family health strategy

OBJECTIVE: To analyze the strengths and limitations of the Family Health Strategy from the perspective of health care professionals and the community. METHODS: Between June-August 2009, in the city of Vespasiano, Minas Gerais State, Southeastern Brazil, a questionnaire was used to evaluate the Family Health Strategy (ESF) with 77 healthcare professionals and 293 caregivers of children under five. Health care professional training, community access to health care, communication with patients and delivery of health education and pediatric care were the main points of interest in the evaluation. Logistic regression analysis was used to obtain odds ratios and 95% confidence intervals as well as to assess the statistical significance of the variables studied. RESULTS: The majority of health care professionals reported their program training was insufficient in quantity, content and method of delivery. Caregivers and professionals identified similar weaknesses (services not accessible to the community, lack of healthcare professionals, poor training for professionals) and strengths (community health worker-patient communications, provision of educational information, and pediatric care). Recommendations for improvement included: more doctors and specialists, more and better training, and scheduling improvements. Caregiver satisfaction with the ESF was found to be related to perceived benefits such as community health agent household visits (OR 5.8, 95%CI 2.8;12.1), good professional-patient relationships (OR 4.8, 95%CI 2.5;9.3), and family-focused health (OR 4.1, 95%CI 1.6;10.2); and perceived problems such as lack of personnel (OR 0.3, 95%CI 0.2;0.6), difficulty with access (OR 0.2, 95%CI 0.1;0.4), and poor quality of care (OR 0.3, 95%CI 0.1;0.6). Overall, 62% of caregivers reported being generally satisfied with the ESF services. CONCLUSIONS: Identifying the limitations and strengths of the Family Health Strategy from the healthcare professional and caregiver perspective may serve to advance primary community healthcare in Brazil.

Relationship of health workers with their organization and work: a cross-cultural study

ABSTRACT We analyzed the differences, by Student’s t-test and ANOVA, between nurses and physicians from Portugal, Poland, Spain, and United Kingdom regarding their relationship with their work and organization. In total, 1,401 professionals answered the HSA-QHPR questionnaire. There are different levels of connection between physicians and nurses. The United Kingdom has the lowest levels of connection with the work while Portugal has the highest levels of relationship with the organization. The results provide guidelines for the development of policies and differential strategies aimed at improving the quality of healthcare service.

Noonan syndrome: a clinical and genetic study of 31 patients

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

Osteoprotegerin and bone mineral density in hemodiafiltration patients.

A newly identified cytokine, osteoprotegerin (OPG) appears to be involved in the regulation of bone remodeling. In vitro studies suggest that OPG, a soluble member of the TNF receptor family of proteins, inhibits osteoclastogenesis by interrupting the intercellular signaling between osteoblastic stromal cells and osteoclast progenitors. As patients with chronic renal failure (CRF) often have renal osteodystrophy (ROD), we investigated the role of osteoprotegerin (OPG) in ROD, and investigated whether there was any relationship between serum OPG, intact parathyroid (PTH) (iPTH), vitamin D, and trabecular bone. Serum OPG combined with iPTH might be a useful tool in the noninvasive diagnosis of ROD, at least in cases in which the range of PTH values compromises reliable diagnosis. Thirty-six patients on maintenance hemodiafiltration (HDF) and a control group of 36 age and sex matched healthy subjects with no known metabolic bone disease were studied. The following assays were made on serum: iPTH, osteocalcin (BGP), bone alkaline phosphatase, 25(OH)-cholecalciferol, calcium, phosphate, OPG, IGF-1, estradiol, and free testosterone. Serum Ca++, P, B-ALP, BGP, IGF-1, iPTH, and OPG levels were significantly higher in HDF patients than in controls, while DXA measurements and quantitative ultrasound (QUS) parameters were significantly lower. On grouping patients according to their mean OPG levels, we observed significantly lower serum IGF-1, vitamin D3 concentrations, and lumbar spine and hip bone mineral density in the high OPG groups. No correlation was found between OPG and bone turnover markers, whereas a negative correlation was found between serum OPG and IGF-1 levels (r=-0.64, p=0.032). Serum iPTH concentrations were positively correlated with bone alkaline phosphatase (B-ALP) (r=0.69, p=0.038) and BGP (r=0.92, p<0.001). The findings made suggest that an increase in OPG levels may be a compensatory response to elevated bone loss. The low bone mineral density (BMD) levels found in the high OPG group might have been due to the significant decrease in serum IGF-1 and vitamin D3 observed. In conclusion, the findings made in the present study demonstrate that increased OPG in hemodiafiltration patients is only partly due to decreased renal clearance. As it may partly reflect a compensatory response to increased bone loss, this parameter might be helpful in the identification of patients with a marked reduction in trabecular BMD.

LdShake: learning design solutions sharing and co-edition

Two important challenges that teachers are currently facing are the sharing and the collaborative authoring of their learning design solutions, such as didactical units and learning materials. On the one hand, there are tools that can be used for the creation of design solutions and only some of them facilitate the co-edition. However, they do not incorporate mechanisms that support the sharing of the designs between teachers. On the other hand, there are tools that serve as repositories of educational resources but they do not enable the authoring of the designs. In this paper we present LdShake, a web tool whose novelty is focused on the combined support for the social sharing and co-edition of learning design solutions within communities of teachers. Teachers can create and share learning designs with other teachers using different access rights so that they can read, comment or co-edit the designs. Therefore, each design solution is associated to a group of teachers able to work on its definition, and another group that can only see the design. The tool is generic in that it allows the creation of designs based on any pedagogical approach. However, it can be particularized in instances providing pre-formatted designs structured according to a specific didactic method (such as Problem-Based Learning, PBL). A particularized LdShake instance has been used in the context of Human Biology studies where teams of teachers are required to work together in the design of PBL solutions. A controlled user study, that compares the use of a generic LdShake and a Moodle system, configured to enable the creation and sharing of designs, has been also carried out. The combined results of the real and controlled studies show that the social structure, and the commenting, co-edition and publishing features of LdShake provide a useful, effective and usable approach for facilitating teachers' teamwork.

Bond strength of orthodontic brackets using different light and self-curing cements

The purpose of the study was to evaluate the shear bond strength of stainless steel orthodontic brackets directly bonded to extracted human premolar teeth. Fifty teeth were randomly divided into ¿ve groups: (1) System One (chemically cured composite resin), (2) Light Bond (light-cured composite resin), (3) Vivaglass Cem (self-curing glass ionomer cement), (4) Fuji Ortho LC (light-cured glass ionomer cement) used after 37% orthophosphoric acid¿etching of enamel (5) Fuji Ortho LC without orthophosphoric acid¿etching. The brackets were placed on the buccal and lingual surfaces of each tooth, and the specimens were stored in distilled water (24 hours) at 378C and thermocycled. Teeth were mounted on acrylic block frames, and brackets were debonded using an Instron machine. Shear bond strength values at fracture (Nw)were recorded. ANOVA and Student-Newman-Keuls multiple comparison tests were performed (P , .05). Bonding failure site was recorded by stereomicroscope and analyzed by Chi-square test, selected specimens of each group were observed by scanning electron microscope. System One attained the highest bond strength. Light Bond and Fuji Ortho LC, when using an acid-etching technique, obtained bond strengths that were within the range of estimated bond strength values for successful clinical bonding. Fuji Ortho LC and Vivaglass Cem left an almost clean enamel surface after debracketing.

Un clàssic del feminisme en català: La condició de la dona de Juliet Mitchell

Aquest article estudia la recepció a Catalunya d’una de les fundadores del pensament feminista contemporani: Juliet Mitchell. Les contribucions d’aquesta autora van ser fonamentals per a establir els límits de la relació entre el feminisme, el socialisme i la psicoanàlisi als anys setanta. Un dels seus llibres més importants, Woman’s State, es va publicar l’any 1971. En disposem d’una traducció catalana realitzada per Josep Vallverdú, sis anys després: La condició de la dona; el mateix any es va publicar La condición de la mujer, amb traducció de Julieta Diéguez Garza (es tracta d’una reedició per a la península d’una primera edició realitzada a Mèxic l’any 1974). En aquest estudi s’analitza la traducció catalana i es reflexiona sobre la seva importància en un context en què calia abastir de clàssics l’incipient teixit associatiu feminista.

Why do they separate it or not? Attitudes and behaviors towards organic waste separation

This article shows the results of an exploratory study related to the separation of organic waste in order to offer suggestions for the improvement of waste disposal communication campaigns. The overall objective is to analyze attitude and behavior of those who do and those who do not separate organic waste, related to a specific promotional campaign carried out in two neighborhoods, in the municipality of Badalona (Spain), within the framework of the study of proenvironmental attitudes and behaviors and based on the Psychosocial Four Spheres Model. 1,010 interviews were conducted and data was analyzed using Chi-Squared Automatic Interaction Detector (CHAID). Waste separation behavior was used as a dependent variable. The reasons given to explain why people do or do not separate organic waste and sociodemographic variables, have been introduced as independent variables. In accordance with the Four Spheres Model, results show significant differences in waste separation. Based on the profiles obtained, we find some predictive variables that facilitate the development of communication campaigns according to the requirements of each community.

Why do they separate it or not? Attitudes and behaviors towards organic waste separation

This article shows the results of an exploratory study related to the separation of organic waste in order to offer suggestions for the improvement of waste disposal communication campaigns. The overall objective is to analyze attitude and behavior of those who do and those who do not separate organic waste, related to a specific promotional campaign carried out in two neighborhoods, in the municipality of Badalona (Spain), within the framework of the study of proenvironmental attitudes and behaviors and based on the Psychosocial Four Spheres Model. 1,010 interviews were conducted and data was analyzed using Chi-Squared Automatic Interaction Detector (CHAID). Waste separation behavior was used as a dependent variable. The reasons given to explain why people do or do not separate organic waste and sociodemographic variables, have been introduced as independent variables. In accordance with the Four Spheres Model, results show significant differences in waste separation. Based on the profiles obtained, we find some predictive variables that facilitate the development of communication campaigns according to the requirements of each community.

Association between the PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma: Evidence from a meta-analysis of individual participant data.

The incidence of hepatocellular carcinoma (HCC) is increasing in Western countries. Although several clinical factors have been identified, many individuals never develop HCC, suggesting a genetic susceptibility. However, to date, only a few single-nucleotide polymorphisms have been reproducibly shown to be linked to HCC onset. A variant (rs738409 C>G, encoding for p.I148M) in the PNPLA3 gene is associated with liver damage in chronic liver diseases. Interestingly, several studies have reported that the minor rs738409[G] allele is more represented in HCC cases in chronic hepatitis C (CHC) and alcoholic liver disease (ALD). However, a significant association with HCC related to CHC has not been consistently observed, and the strength of the association between rs738409 and HCC remains unclear. We performed a meta-analysis of individual participant data including 2,503 European patients with cirrhosis to assess the association between rs738409 and HCC, particularly in ALD and CHC. We found that rs738409 was strongly associated with overall HCC (odds ratio [OR] per G allele, additive model=1.77; 95% confidence interval [CI]: 1.42-2.19; P=2.78 × 10(-7) ). This association was more pronounced in ALD (OR=2.20; 95% CI: 1.80-2.67; P=4.71 × 10(-15) ) than in CHC patients (OR=1.55; 95% CI: 1.03-2.34; P=3.52 × 10(-2) ). After adjustment for age, sex, and body mass index, the variant remained strongly associated with HCC. Conclusion: Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development.

Why do they separate it or not? Attitudes and behaviors towards organic waste separation

This article shows the results of an exploratory study related to the separation of organic waste in order to offer suggestions for the improvement of waste disposal communication campaigns. The overall objective is to analyze attitude and behavior of those who do and those who do not separate organic waste, related to a specific promotional campaign carried out in two neighborhoods, in the municipality of Badalona (Spain), within the framework of the study of proenvironmental attitudes and behaviors and based on the Psychosocial Four Spheres Model. 1,010 interviews were conducted and data was analyzed using Chi-Squared Automatic Interaction Detector (CHAID). Waste separation behavior was used as a dependent variable. The reasons given to explain why people do or do not separate organic waste and sociodemographic variables, have been introduced as independent variables. In accordance with the Four Spheres Model, results show significant differences in waste separation. Based on the profiles obtained, we find some predictive variables that facilitate the development of communication campaigns according to the requirements of each community.

Why do they separate it or not? Attitudes and behaviors towards organic waste separation

This article shows the results of an exploratory study related to the separation of organic waste in order to offer suggestions for the improvement of waste disposal communication campaigns. The overall objective is to analyze attitude and behavior of those who do and those who do not separate organic waste, related to a specific promotional campaign carried out in two neighborhoods, in the municipality of Badalona (Spain), within the framework of the study of proenvironmental attitudes and behaviors and based on the Psychosocial Four Spheres Model. 1,010 interviews were conducted and data was analyzed using Chi-Squared Automatic Interaction Detector (CHAID). Waste separation behavior was used as a dependent variable. The reasons given to explain why people do or do not separate organic waste and sociodemographic variables, have been introduced as independent variables. In accordance with the Four Spheres Model, results show significant differences in waste separation. Based on the profiles obtained, we find some predictive variables that facilitate the development of communication campaigns according to the requirements of each community.

Identification-commitment inventory (ICI-Model): confirmatory factor analysis and construct validity

The aim of this study is to confirm the factorial structure of the Identification-Commitment Inventory (ICI) developed within the frame of the Human System Audit (HSA) (Quijano et al. in Revist Psicol Soc Apl 10(2):27-61, 2000; Pap Psicól Revist Col Of Psicó 29:92-106, 2008). Commitment and identification are understood by the HSA at an individual level as part of the quality of human processes and resources in an organization; and therefore as antecedents of important organizational outcomes, such as personnel turnover intentions, organizational citizenship behavior, etc. (Meyer et al. in J Org Behav 27:665-683, 2006). The theoretical integrative model which underlies ICI Quijano et al. (2000) was tested in a sample (N = 625) of workers in a Spanish public hospital. Confirmatory factor analysis through structural equation modeling was performed. Elliptical least square solution was chosen as estimator procedure on account of non-normal distribution of the variables. The results confirm the goodness of fit of an integrative model, which underlies the relation between Commitment and Identification, although each one is operatively different.