Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

Abstract The aim of this study was to develop a bread enriched with varying level of ginger powder. Ginger powder incorporated in white flour at 0, 2, 4, 6 and 8% level to get a bread enriched with antioxidants and good rheological and sensorial properties. Total phenolic content (TPC) was gradually decreased with increasing percentage of ginger powder and maximum inhibition of DPPH was recorded (47.23%) at 2% supplemented sample. Texture of supplemented bread samples was increased in terms of hardness, gumminess and chewiness as compared to control sample. Mineral contents increased in each sample with increasing percentage of ginger powder such as Na (451.69 mg/kg), Ca (127.32 mg/kg), K (427.61 mg/kg), Fe (15.19 mg/kg), Zn (7.04 mg/kg) and Cu (3.47 mg/kg) respectively. However, showed worst results regarding rheological properties with hard dough structure. Among studied samples, a range of 2-4% ginger powder presented high antioxidants with better rheological characteristics compared with control samples.

Abstract Moringa the miracle tree is rich source of protein and its protein content are comparable with meat protein. In the current study protein was isolated from moringa flowers and utilized in preparation of bars. Physicochemical analysis like texture, color, caloric value, water activity, pH and sensory characteristics were determined to evaluate the nutritional and quality attributes of bars. Different concentration of isolated protein was used in the preparedness. Among all treatments T4 (15% protein isolate) and T3 (10% protein isolate) were best as they had the highest caloric value i.e. 498.33 and 480.37 kcal and high protein percentage 42.55 and 35.29%. T4 and T3 also were good in all textural parameters i.e. hardness 4.68 and 4.85 kg, firmness 3.88 and 3.67 kg, toughness 3.78 and 3.63 kg and work of shear 16.84 and 16.80 kg/mm. The obtained results indicated that the incorporation of moringa protein isolate in bars not only increase their aesthetic value but also increase their nutritional profile. High quality protein isolated from moringa is cheaper and easily grown with little care to provide ample supply of moringa protein to peoples which were in concern of money for provision of proteinaceous food to their families to combat malnutrition.

Abstract The hyperglycaemia defines features of type 2 diabetes (T2DM), which is a real time problem and poses a significant economic burden on the globe and is spreading like an epidemic. Currently it affects 384 million people on the globe and this number is expected to reach 592 million in 2035 as reiterated by International Diabetes Federation (IDF). By improving the quality of diet and decreasing the intake of sugary foods T2DM can be treated. Fenugreek seeds powder in sachet form of 20 g/day used to treat type 2 diabetes mellitus as a natural supplement. Anthropometric parameters of height, weight, age and BMI of T2DM patient was also calculated. In this study patients from Rawalpindi and Islamabad region were selected for study purpose. Blood sugar levels such as fasting blood glucose (FBG), random blood glucose (RBG), and HbA1c of both the groups (treated and control) were taken at baseline, after one month and at the end of study. When fenugreek seeds were given to T2DM patients significant decrease in their glucose levels were seen after 30 and then 60 days of treatment.

Abstract Heavy metals pollution is a global threat to the environment and ecosystem due to various human and natural activities. Heavy metal intake through vegetables and diet leads to numerous ailments such as nervous disorder, kidney damage tubular growth and bone disease. The present study was conducted to mitigate the residue of heavy metals Hg, Pb, Zn and As in spinach collected from self-grown supervised field by using different washing treatments. Amount of trace metals was measured in fresh and chemically washed spinach samples with the help of Atomic Absorption Spectrophotometer (AAS). Results revealed that highest reduction of mercury, lead, zinc and arsenic residues with 10% citric acid was 23%, 28%, 54% and 22% respectively among the tested solutions. However, tap water treatment also reduced 7%, 7%, 15% and 6, respectively. Among various washing solutions citric acid proved maximum reduction potential followed by Lemon extract, sodium carbonate, reddish extract and hydrogen peroxide respectively. The percent reduction by various solutions ranged from 7 to 23%, 7 to 28%, 15 to 54% and 6 to 22% for elimination of mercury, lead, zinc and arsenic, respectively. More reduction was found in zinc followed lead, mercury and arsenic.

Abstract Guava is very delicate and alluring fruit which is being ignored since very long time despite of highly nutritious fruit and rich source of Vitamin C. It contains Vitamin C 2-3 times more than orange. Naturally the guava fruit is enriched with vitamin C and polyphenoles. Guavas fruits after harvesting were dunked in solutions of CaCl2 (1, 2 and 3%) at room temperature for 5 minutes and stored for 24 days in 5% CO2 level at temperature of 10±1°C, while the humidity level of storage chamber were 80%. The stored fruits were analyzed at 6 days of interval for sugars (glucose, fructose and sucrose g/100g) total phenolic contents (mgGAE/100g), antioxidant activity (µmolTE/g), and organic acids (citric, tartaric, ascorbic, and malic acids mg/100 g). The total phenolic content and antioxidant activity of guava fruits were declined during progression in storage but in fewer amounts as compared to room storage condition. Citric acid and ascorbic acid contents were reduced with the progression in storage, however tartaric and malic acid values were amplified at end of storage but the rate of changes were slower. The pretreatments in combination with modified atmosphere storage escalate the shelf life of guava and slow down nutritional degradation process.

Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation.

Resumo Objetivo: Estudar o desempenho do lactato no líquido cefalorraquidiano como biomarcador para diferenciar a meningite bacteriana da meningite viral em crianças, e definir uma concentração de lactato ótima no líquido cefalorraquidiano que possa ser significativa para a diferenciação. Métodos: Foram estudadas crianças com achados clínicos compatíveis com meningite. O nível de lactato no líquido cefalorraquidiano e outros parâmetros convencionais do líquido cefalorraquidiano foram registrados. Resultados: Em um valor de corte de 3 mmol/L, o lactato no líquido cefalorraquidiano apresentou uma sensibilidade de 0,90, especificidade de 1,0, valor preditivo positivo de 1,0, valor preditivo negativo de 0,963, com uma precisão de 0,972. Os índices de probabilidade positivo e negativo foram 23,6 e 0,1, respectivamente. Para comparação entre a meningite bacteriana e viral, a área abaixo da curva do lactato no líquido cefalorraquidiano foi 0,979. Conclusões: Concluímos que o lactato no líquido cefalorraquidiano possui alta sensibilidade e especificidade na diferenciação da meningite bacteriana da meningite viral. Embora em um valor de corte de 3 mmol/L o lactato no líquido cefalorraquidiano possua alta precisão de diagnóstico da meningite bacteriana, os níveis médios na meningite viral permanecem basicamente abaixo de 2 mmol/L.

Abstract Objective: To assess the performance of cerebrospinal fluid (CSF) lactate as a biomarker to differentiate bacterial meningitis from viral meningitis in children, and to define an optimal CSF lactate concentration that can be called significant for the differentiation. Methods: Children with clinical findings compatible with meningitis were studied. CSF lactate and other conventional CSF parameters were recorded. Results: At a cut-off value of 3 mmol/L, CSF lactate had a sensitivity of 0.90, specificity of 1.0, positive predictive value of 1.0, and negative predictive value of 0.963, with an accuracy of 0.972. The positive and negative likelihood ratios were 23.6 and 0.1, respectively. When comparing between bacterial and viral meningitis, the area under the curve for CSF lactate was 0.979. Conclusions: The authors concluded that CSF lactate has high sensitivity and specificity in differentiating bacterial from viral meningitis. While at a cut-off value of 3 mmol/L, CSF lactate has high diagnostic accuracy for bacterial meningitis, mean levels in viral meningitis remain essentially below 2 mmol/L.

Resumo A goiaba (Psidium guajava L.) é uma cultura de polinização aberta tendo 25-40% Índice de dissimilaridade que promove a heterozigosidade e acrescenta novas cultivares. Caracterização morfo-genética de 37 acessos de goiabeira foi realizada para a variabilidade genética e estrutura de germoplasma de goiaba localizado na província Punjab, Paquistão. A análise de componentes principais (PCA) foi submetida para analisar a diversidade morfológica e para análises genéticas foram aplicados a análise de agrupamento, utilizando o software de PyElph. PCA traços distribuídos trinta e um em seis componentes e dois primeiros componentes representaram 39,5% da variação total. Um dendrograma construído com base em caracteres morfológicos que mostrou 34% de índice de dissimilaridade entre trinta e sete acessos de goiabeira e dividiu-os em 6 grupos. Caracterização genética de 18 microssatélites foram utilizados, o tamanho dos gerados reprodutível e bandas variou de 150 a 320 pb. Os 18 pares de primers amplificado 85 alelos, com uma média de 4,7 alelos por loco e não mais do que duas bandas exibido (locos SSR nuclear). A árvore filogenética baseada na análise molecular mostrou 50% de índice de dissimilaridade entre os acessos de goiabeira selecionados e separados em 4 grupos.

Abstract Guava (Psidium guajava L.) is an open-pollinated crop having 25-40% dissimilarity index which promotes heterozygosity and adds new cultivars. Morpho-genetic characterization of 37 guava accessions was carried out for genetic variability and structure of guava germplasm located in Punjab province, Pakistan. Principal Component analysis (PCA) was subjected to analyze the morphological diversity and for genetic analysis we applied cluster analysis, using the PyElph software. PCA distributed thirty one traits into six components and first two components accounted 39.5% of total variation. A dendrogram constructed on the basis of morphological traits which showed 34% dissimilarity index among thirty seven guava accessions and divided them into 6 groups. For genetic characterization 18 microsatellites were used, the size of reproducible and scorable bands ranged from 150 to 320 bp. The 18 primer pairs amplified 85 alleles with an average number of 4.7 alleles per locus and no more than two displayed bands (nuclear SSR loci). The phylogenetic tree based on molecular analysis showed 50% dissimilarity index among selected guava accessions and separated them into 4 groups.

Spatial and temporal variations in aerosol particulate matter (PM) were investigated for distribution over the four seasons of chemical constituents and particle size fractions in Faisalabad, Pakistan from June 2012 to April 2013. At nine sampling sites, four PM mass size fractions (total suspended particulates [TSP], PM10, pM4 and PM2.5) were monitored; simultaneously, TSP mass samples were collected on glass fiber filters using a high volume air sampler. TSP samples (144) were subjected to quantitative chemical analyses for determining trace elements (Pb, Cd, Ni, Zn, Cu, Fe) using atomic absorption spectroscopy, and water-soluble cations (Ca²+, Mg²+, Na+, K+, NH4+) and anions (Cl-, SO4(2-) and NO3-) by ion chromatography. The highest PM mass concentrations were observed at industrial sites, while they were somewhat lower in major road intersections and lowest in the remote background site. It was also observed that PM mass concentrations were about two to 20 times higher than the standard limits of the World Health Organization and the US Environmental Protection Agency. Coarse particles (TSP, PM10 and PM4) were found to be highest during the summer, while relatively fine particles (PM2.5) were higher during the winter period. Concentrations of all size fractions were lowest during the monsoon sampling period at all sites. Concentrations of different elements and water-soluble ions also followed the similar temporal pattern as PM mass concentrations. The crustal elements Ca, Fe, Mg and Na were the largest contributors to TSP mass while elements of anthropogenic origin (Pb, Cd, Ni, Cu and Zn) had relatively lower concentrations and also showed a high spatial variation. Among the anions, sulfate (SO4(2-)) was the predominant species contributing to 50-60% of the total anion concentration. It was found that rainfall, wind speed and relative humidity were the most important meteorological factors affecting PM concentrations. The evaluation of data presented in this paper will serve as a basis for future regional modeling and source apportionment.

Se investigaron las variaciones espaciales y temporales de aerosoles de material particulado (PM, por sus siglas en inglés) en Faisalabad, Pakistán, de junio de 2012 a abril de 2013 para conocer la distribución de componentes químicos y fracciones granulométricas en todas las estaciones del año. Se controlaron cuatro fracciones de PM (partículas totales en suspensión [TSP, por sus siglas en inglés], PM10, PM4 y PM2.5) en nueve sitios de muestreo y de manera simultánea se colectaron muestras de TSP en filtros de fibra de vidrio utilizando un dispositivo de alto volumen para toma de muestras de aire. Las muestras de TSP (144) se sometieron a un análisis químico cuantitativo para determinar la presencia de elementos traza (Pb, Cd, Ni, Zn, Cu, Fe) mediante espectroscopia de absorción atómica, así como de cationes solubles en agua (Ca²+, Mg²+, Na+, K+, NH4+) y aniones (Cl-, SO4(2-) y NO3-) por cromatografía iónica. Las mayores concentraciones de PM se observaron en sitios industriales; las concentraciones en cruces de vialidades principales fueron menores, y los valores más bajos se obtuvieron en un sitio remoto. Las concentraciones de PM fueron aproximadamente de dos a 20 veces mayores que los estándares establecidos por la Organización Mundial de la Salud y la Agencia de Protección Ambiental estadounidense. Las partículas gruesas (TSP y PM10) registraron mayores niveles durante el verano y las partículas relativamente pequeñas (PM4 y PM2.5) durante el invierno, en tanto que las concentraciones de partículas de todos los tamaños fueron menores durante la época de monzones en todos los sitios. Las concentraciones de los diferentes elementos y iones solubles en agua siguieron un patrón estacional similar al de las concentraciones de PM. Los elementos de la corteza terrestre Ca, Fe, Mg y Na fueron los mayor contribuyentes a las TSP, en tanto que las concentraciones de origen antropogénico (Pb, Cd, Ni, Cu y Zn) fueron relativamente bajas y mostraron alta variabilidad espacial. El sulfato (SO4(2-)) contribuyó con 50-60% de la concentración total de aniones y fue la especie predominante de éstos. Se encontró que la precipitación, la velocidad del viento y la humedad relativa fueron los factores meteorológicos que tuvieron mayor efecto sobre las concentraciones de PM. La evaluación de los datos presentados en este documento servirá como base para la modelación regional y la asignación de fuentes en el futuro.

Pre-engineered steel structures have become an indispensable tool in the construction industry because of their widespread use in large shopping malls, exhibition halls and industrial buildings. Such special buildings generally contain stacked materials, heavy machinery and a heavy-duty crane. Seismic loads are critical for these structures, as the location of the building changes depending on seismic activities. In this research, the performance of a typical structural steel building to be used as a shopping mall and constructed using the section variation technique is studied for all five seismic zones of Uniform Building Code 97, namely 1, 2A, 2B, 3 and 4. This study investigated the effects of the variation of the seismic forces in various seismic zones for special and ordinary steel moment-resisting building frames with response modification factor values of R=8.5 and R=4.5, respectively. The parameters studied were the economy and the structural factors, design performance and detailing of the structures. The results indicate that structural steel can be saved by up to 7% for main frames and 60-130% for the lateral bracing by using special moment-resisting building frames (R=8.5) if proper detailing/construction of the steel moment-resisting frames is carried out according to the guidelines set forth by the AISC seismic provisions.

Estructuras de acero con ingeniería previa se han convertido en una herramienta indispensable en la industria de la construcción debido a su uso generalizado en los grandes centros comerciales, salas de exposiciones y edificios industriales. Tales edificios especiales generalmente contienen materiales apilados, maquinaria pesada y una grúa de servicio pesado. Cargas sísmicas son críticos para estas estructuras, como la localización de los cambios de construcción en función de las actividades sísmicas. En esta investigación, la realización de un edificio de acero estructural, característica que se utilizará como un centro comercial y construido utilizando la técnica de la sección se estudia la variación de las cinco zonas sísmicas del Código Uniforme de Construcción 97, es decir, 1, 2A, 2B, 3 y 4. Este estudio investigó los efectos de la variación de las fuerzas sísmicas en diferentes zonas sísmicas para estructuras de edificios de acero resistentes a momentos, especial y normal, con los valores del factor de modificación de la respuesta de R = 8,5 y R = 4,5, respectivamente. Los parámetros estudiados fueron la economía y los factores estructurales, el rendimiento del diseño y el detalle de las estructuras. Los resultados indican que el acero estructural se puede ahorrar hasta un 7% para las tramas principales y 60-130% para el arriostramiento lateral mediante el uso de marcos especiales resistentes a momento de construcción (R = 8,5) si un adecuado detallado/construcción de marcos acero resistentes a momento se lleva a cabo de acuerdo con las directrices establecidas por las disposiciones sísmicas de AISC.

Public policy plays a key role in improving population health and in the control of diseases, including non-communicable diseases. However, an evidence-based approach to formulating healthy public policy has been difficult to implement, partly on account of barriers that hinder integrated work between researchers and policy-makers. This paper describes a "policy effectiveness-feasibility loop" (PEFL) that brings together epidemiological modelling, local situation analysis and option appraisal to foster collaboration between researchers and policy-makers. Epidemiological modelling explores the determinants of trends in disease and the potential health benefits of modifying them. Situation analysis investigates the current conceptualization of policy, the level of policy awareness and commitment among key stakeholders, and what actually happens in practice, thereby helping to identify policy gaps. Option appraisal integrates epidemiological modelling and situation analysis to investigate the feasibility, costs and likely health benefits of various policy options. The authors illustrate how PEFL was used in a project to inform public policy for the prevention of cardiovascular diseases and diabetes in four parts of the eastern Mediterranean. They conclude that PEFL may offer a useful framework for researchers and policy-makers to successfully work together to generate evidence-based policy, and they encourage further evaluation of this approach.

Las políticas públicas desempeñan un papel fundamental en la mejora de la salud de la población y el control de enfermedades, incluidas las enfermedades no transmisibles. Sin embargo, ha sido difícil implementar un enfoque basado en datos probatorios para formular una política sanitaria pública, debido en parte a los obstáculos que impiden el trabajo integrado entre investigadores y legisladores. El presente documento describe una política de circuito cerrado eficacia-viabilidad (PEFL, por sus siglas en inglés) que reúne la modelización epidemiológica, el análisis de la situación local y la valoración de las opciones para promover la colaboración entre investigadores y legisladores. El modelo epidemiológico examina los factores determinantes de las tendencias de una enfermedad y los beneficios sanitarios posibles resultantes de una modificación de los mismos. El análisis de la situación investiga la conceptualización actual de la política, el nivel de conciencia y compromiso con esa política entre las partes clave interesadas y lo que sucede en la práctica, ayudando, por tanto, a identificar las lagunas en la política. La valoración de las opciones integra el modelo epidemiológico y el análisis de la situación para averiguar la viabilidad, los costes y los beneficios sanitarios posibles de varias políticas posibles. Los autores ilustran cómo se empleó el PEFL en un proyecto para informar acerca de una política pública para la prevención de enfermedades cardiovasculares y diabetes en cuatro áreas del Mediterráneo Oriental. Concluyen que el PEFL puede ofrecer un marco útil a los investigadores y legisladores para trabajar con éxito juntos con objeto de crear una política basada en datos probatorios, y animan a seguir evaluando dicho enfoque

La politique publique joue un rôle clé dans l'amélioration de la santé de la population et dans la lutte contre les maladies, notamment les maladies non transmissibles. Il a cependant été difficile de mettre en œuvre une approche fondée sur des preuves pour formuler une politique publique saine, en partie en raison des barrières qui entravent le travail intégré entre chercheurs et décideurs. Cet article décrit une «boucle entre efficacité et faisabilité d'une politique» (PEFL) réunissant la modélisation épidémiologique, l'analyse de la situation locale et l'évaluation des options afin de favoriser la collaboration entre chercheurs et décideurs. La modélisation épidémiologique explore les déterminants des évolutions de maladie et les avantages sanitaires potentiels résultant de leur modification. L'analyse de situation étudie la conceptualisation actuelle de la politique, le niveau de conscience politique et l'engagement des principaux intervenants, et ce qui se passe réellement dans la pratique, aidant ainsi à identifier les lacunes de la politique. L'évaluation des options intègre la modélisation épidémiologique et l'analyse de situation pour étudier la faisabilité, les coûts et les avantages sanitaires potentiels de diverses options politiques. Les auteurs montrent comment la PEFL a été utilisée dans un projet visant à éclairer la politique publique sur la prévention des maladies cardiovasculaires et du diabète dans quatre régions de la Méditerranée orientale. Ils concluent que la PEFL peut offrir un cadre utile, permettant aux chercheurs et aux décideurs de réussir à travailler ensemble pour créer une politique basée sur des preuves, et ils encouragent une évaluation plus approfondie de cette approche.