Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

Background: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene. Case presentation: We encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3'UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual's DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway. Conclusions: This is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations.

Two new species of Gomphonema (Bacillariophyceae) from Doon Valley, Uttarakhand, India

This paper describes two new Gomphonema species from the lesser Himalayas, India, with their valve morphology using light and scanning electron microscopy. The two species, Gomphonema juettnerii sp. nov. and G. doonensis sp. nov., were found in Nalota stream in Doon Valley of Uttarakhand State. Main features of G. juettnerii are valve outline, shape of the areolae and striae pattern and presence of stigma. Main features of G. doonensis are rounded headpole, striae made by doubly punctate striae and features in central area. A detailed discussion on doubly punctate striae in members of gomphonemoid diatoms is presented.

Isotopic disequilibrium in Globigerina bulloides and carbon isotope response to productivity increase in Southern Ocean

Oxygen and carbon isotope ratios in planktonic foraminifera Globigerina bulloides collected from tow samples along a transect from the equatorial Indian ocean to the Southern Ocean (45 degrees E and 80 degrees E and 10 degrees N to 53 degrees S) were analysed and compared with the equilibrium delta O-18 and delta C-13 values of calcite calculated using the temperature and isotopic composition of the water column. The results agree within similar to 0.25% for the region between 10 degrees N and 40 degrees S and 75-200 m water depth which is considered to be the habitat of Globigerina bulloides. Further south (from 40 degrees S to 55 degrees S), however, the measured delta O-18 and delta C-13 values are higher than the expected values by similar to 2% and similar to 1% respectively. These enrichments can be attributed to either a `vital effect' or a higher calcification rate. An interesting pattern of increase in the delta C-13(DIC) value of the surface water with latitude is observed between 35 degrees S and similar to 60 degrees S, with a peak at similar to 42 degrees S. This can be caused by increased organic matter production and associated removal. A simple model accounting for the increase in the delta C-13(DIC) values is proposed which fits well with the observed chlorophyll abundance as a function of latitude.

A detailed chemistry multi-cycle simulation of a gasoline fueled HCCI engine operated with NVO

A previously developed Stochastic Reactor Model (SRM) is used to simulate combustion in a four cylinder in-line four-stroke naturally aspirated direct injection Spark Ignition (SI) engine modified to run in Homogeneous Charge Compression Ignition (HCCI) mode with a Negative Valve Overlap (NVO). A portion of the fuel is injected during NVO to increase the cylinder temperature and enable HCCI combustion at a compression ratio of 12:1. The model is coupled with GT-Power, a one-dimensional engine simulation tool used for the open valve portion of the engine cycle. The SRM is used to model in-cylinder mixing, heat transfer and chemistry during the NVO and main combustion. Direct injection is simulated during NVO in order to predict heat release and internal Exhaust Gas Recycle (EGR) composition and mass. The NOx emissions and simulated pressure profiles match experimental data well, including the cyclic fluctuations. The model predicts combustion characteristics at different fuel split ratios and injection timings. The effect of fuel reforming on ignition timing is investigated along with the causes of cycle to cycle variations and unstable operation. A detailed flux analysis during NVO unearths interesting results regarding the effect of NOx on ignition timing compared with its effect during the main combustion. © 2009 SAE International.

Experimental investigation of a control method for SI-HCCI-SI transition in a multi-cylinder gasoline engine

In HCCI engines, the Air/Fuel Ratio (AFR) and Residual Gas Fraction (RGF) are difficult to control during the SI-HCCI-SI transition, and this may result in incomplete combustion and/or high pressure raise rates. As a result, there may be undesirably high engine load fluctuations. The objectives of this work are to further understand this process and develop control methods to minimize these load fluctuations. This paper presents data on instantaneous AFR and RGF measurements, both taken by novel experimental techniques. The data provides an insight into the cyclic AFR and RGF fluctuations during the switch. These results suggest that the relatively slow change in the intake Manifold Air Pressure (MAP) and actuation time of the Variable Valve Timing (VVT) are the main causes of undesired AFR and RGF fluctuations, and hence an unacceptable Net IMEP (NIMEP) fluctuation. We also found large cylinder-to-cylinder AFR variations during the transition. Therefore, besides throttle opening control and VVT shifting, cyclic and individual cylinder fuel injection control is necessary to achieve a smooth transition. The control method was developed and implemented in a test engine, and the result was a considerably reduced NIMEP fluctuation during the mode switch. The instantaneous AFR and RGF measurements could furthermore be adopted to develop more sophisticated control methods for SI-HCCI-SI transitions. © 2010 SAE International.

Modelling soot formation in a DISI engine

In this work, the formation of soot in a Direct Injection Spark Ignition (DISI) engine is simulated using the Stochastic Reactor Model (SRM) engine code. Volume change, convective heat transfer, turbulent mixing, direct injection and flame propagation are accounted for. In order to simulate flame propagation, the cylinder is divided into an unburned, entrained and burned zone, with the rate of entrainment being governed by empirical equations but combustion modelled with chemical kinetics. The model contains a detailed chemical mechanism as well as a highly detailed soot formation model, however computation times are relatively short. The soot model provides information on the morphology and chemical composition of soot aggregates along with bulk quantities, including soot mass, number density, volume fraction and surface area. The model is first calibrated by simulating experimental data from a Gasoline Direct Injection (GDI) Spark Ignition (SI) engine. The model is then used to simulate experimental data from the literature, where the numbers, sizes and derived mass particulate emissions from a 1.83 L, 4-cylinder, 4 valve production DISI engine were examined. Experimental results from different injection and spark timings are compared with the model and the qualitative trends in aggregate size distribution and emissions match the exhaust gas measurements well. © 2010 The Combustion Institute. Published by Elsevier Inc. All rights reserved.

Depresión y calcificación en la raíz aórtica y arterias coronarias

Resumen: Se estudia, en adultos de ambos sexos, la asociación entre la depresión y la presencia simultánea de calcificación en las arterias coronarias y la raíz aórtica por un lado, y entre la depresión y la presencia de calcificación coronaria, por otro lado. Estudio transversal. Participaron mayores de 21 años, asintomáticos, sin antecedentes coronarios, que se realizaron una angiotomografía cardíaca por indicación del médico tratante y que fueron evaluados para la depresión. La presencia de calcificación se evaluó mediante angiotomografía cardíaca. La depresión se evaluó mediante un test psicológico. Resultados: 60 adultos, 30 hombres y 30 mujeres, media de 51 ± 5 años. Encontramos una asociación de mayor fortaleza entre la depresión y la calcificación en dos ubicaciones (calcificación coronaria y aórtica) que en un solo lugar (calcificación coronaria). Las personas con calcificación coronaria y aórtica puntuaron más alto en las pruebas de depresión que las personas con calcificación coronaria únicamente. El presente estudio tiene limitaciones debido al tamaño de la muestra y el diseño utilizado. Sin embargo, los resultados sugieren que podría ser interesante estudiar una muestra más grande, con un diseño prospectivo, teniendo en cuenta otras variables intervinientes. Los resultados del presente trabajo confirmaron la presencia simultánea de la depresión y las lesiones ateroscleróticas. Se sugieren dos preguntas: si el tratamiento de la depresión podría modificar el proceso de evolución de las lesiones, y viceversa, y si una intervención terapéutica en ambos (enfermedad aterosclerótica y la depresión), sería más acertada que sólo realizar el tratamiento de la enfermedad aterosclerótica.

Isolation of mineralizing Nestin+ Nkx6.1+ vascular muscular cells from the adult human spinal cord

Background: The adult central nervous system (CNS) contains different populations of immature cells that could possibly be used to repair brain and spinal cord lesions. The diversity and the properties of these cells in the human adult CNS remain to be fully explored. We previously isolated Nestin(+) Sox2(+) neural multipotential cells from the adult human spinal cord using the neurosphere method (i.e. non adherent conditions and defined medium). -- Results: Here we report the isolation and long term propagation of another population of Nestin(+) cells from this tissue using adherent culture conditions and serum. QPCR and immunofluorescence indicated that these cells had mesenchymal features as evidenced by the expression of Snai2 and Twist1 and lack of expression of neural markers such as Sox2, Olig2 or GFAP. Indeed, these cells expressed markers typical of smooth muscle vascular cells such as Calponin, Caldesmone and Acta2 (Smooth muscle actin). These cells could not differentiate into chondrocytes, adipocytes, neuronal and glial cells, however they readily mineralized when placed in osteogenic conditions. Further characterization allowed us to identify the Nkx6.1 transcription factor as a marker for these cells. Nkx6.1 was expressed in vivo by CNS vascular muscular cells located in the parenchyma and the meninges. -- Conclusion: Smooth muscle cells expressing Nestin and Nkx6.1 is the main cell population derived from culturing human spinal cord cells in adherent conditions with serum. Mineralization of these cells in vitro could represent a valuable model for studying calcifications of CNS vessels which are observed in pathological situations or as part of the normal aging. In addition, long term propagation of these cells will allow the study of their interaction with other CNS cells and their implication in scar formation during spinal cord injury.

Preparation of acetate peels of valves from the ocean quahog, Arctica islandica, for age determinations

Techniques are described for preparing acetate peels of sectioned valves of ocean quahogs, Arctica islandica, for age determinations. The respective sequence of preparation begins by sectioning left valves oriented to include a single hinge tooth, bleaching to remove the heavy periostracum, embedding the valves in an epoxy resin, grinding and polishing the embedments to a high luster, etching the exposed cut valve surfaces, and applying sheet acetate with acetone. Annuli are clearly defined relative to growth increments in the peel preparations for all sizes and ages of ocean quahogs. (PDF file contains12 pages.)

La ley del suelo del País Vasco : un paso más hacia la protección del suelo rural

[ES]La Ley del suelo del País Vasco del 2007 nace con el objeto de favorecer el acceso a una vivienda digna. Sin embargo, en la medida en que apuesta por frenar la especulación y la sostenibilidad del medio legisla sobre el tratamiento que se le ha de aportar al suelo no urbanizable. En este caso, no altera sustancialmente la regulación del suelo rural pero sí incorpora nuevas obligaciones dirigidas a frenar la intensidad de la urbanización en este suelo. Se regula la construcción de nueva vivienda, el desarrollo urbanístico de núcleos y barrios rurales y se obliga a profundizar en la calificación del suelo no urbanizable. La aplicación de los nuevos contenidos quedan en manos de los municipios e instituciones sectoriales y los primeros resultados parecen denotar un cambio de tendencia en municipios que han observado la pérdida de calidad paisajística del medio rural, la creciente especulación y la desagrarización de este entorno.

Exploratory survey of Malian and Ndururu traps in River Rima, north western Nigeria

The fabrication and operational techniques of Malian and Ndurutu traps mostly used by the fishermen in River Rima in north western Nigeria were evaluated through structured questionnaire and measurement of samples of the Data collected were analyzed using descriptive statistics. There was no standard in the dimensions of either of the traps. The traps were made of locally sourced materials, except the synthetic net of the Malian trap. About 81 and 80% of the respondents fabricated their Malian and Ndurutu traps, respectively. The major problems encountered in the structure and operation of the Malian trap included projection above water, stealing of catches and trap, and trapping of small sized fishes as indicated by 61.9, 47.6 and 28.6% of the respondents, respectively. In the case of the Ndurutu trap, 72.0, 48.0, 12.0 and 8.0% of the respondents respectively indicated poor durability, single entrance valve, destruction by cattle and instability in water, as the major problems encountered. As improvement measures for the Malian trap, the respondents suggested increase in number and size of valve (81.0%), horizontal positioning (57.1%) and square shape (47.6%) while 52.0% each suggested increase in number of entrance valve and netting of Ndurutu trap. The fishermen demonstrated ingenuity in the fabrication and operation of the traps, but they failed to initiate the required improvement. It is important to critically examine the designs, materials, costs and limitations of the traps and the suggestions of the fishermen, as basis for improvement on the technology of the traps

Evaluation of a new fishing pot trap (Lege) in River Rima, north western Nigeria

Based on the findings and diagnostic survey, a new fishing trap, christened Lege trap was designed and fabricated, and the performance evaluated. The 8-valve Lege trap was assessed concurrently with Malian and Ndurutu traps by the fishermen in the study area. The experiment was conducted in a randomized complete block design with one factor each replicated three times. Data collected on fish diversity number, biomass and size were subjected to descriptive statistics and analysis of variance. The results showed that 22 fish species belonging to thirteen families were caught. The prototype (Lege) trap recorded higher species diversity index (0.90) than the Malian (0.50) and Ndurutu (0.50) traps. The Lege trap also accounted for the largest number (55%) and biomass (63%) of fish caught which was significantly (P<0.05) higher than those of the Malian and Nduutu traps were. The mean length (15.03~c5.70cm), weight (60.43~c48.61g) and girth (4.77~c1.65cm) of fishes caught in the Lege trap were also significantly (P0.05) higher than those caught in the other two traps. These results demonstrated better performance of the new trap than the two conventional traps, even though the sizes of some of the fish species caught in all the traps were below those allowed by the Sokoto State Fisheries Edict where the study was conducted. Therefore, since it is desirable to develop conservation-oriented trap at a least cost, it is necessary to research further on the number of valves and mesh size of the new trap

Sobrepeso, obesidad y bajo peso en niños tratados por el Servicio de Urgencias de Pediatría.

[ES] En el presente trabajo se estudiaron de forma transversal 235 niños con edades comprendidas entre los 2 y 14,9 años. El 6% de la muestra total presentó bajo peso, y el 17% sobrepeso u obesidad. Por lo que concluimos que los servicios de pediatría deberían tener un papel activo en el control y prevención de las alteraciones del estado nutricional.

Amaia Arranzen exebizitzaren ziurtagiri energetikoa eta hobekuntza neurriak

[EU]Gaur egun, 2010/31/UE legearen arabera eraikinen ziurtagiri energetikoa derrigorrezkoa da izatea eraiki, alokatu eta saldu nahi diren etxebizitzentzako. Ziurtagiriarekin, etxebizitzak ingurugiroa zenbat kutsatzen duen adierazten du letren arabera, hau da, zenbat CO2 igortzen duen. Lan honetan, CE3X programa erabili da kalifikazio energetikoa lortzeko horretarako, etxebizitzaren datuak, inguratzaile termikoaren datuak, instalazioen karakteristikak eta kolektore termikoen datuak sartu dira. Honekin, E letra lortu da baina, fatxadan isolamendua kanpotik jarriz eta kondentsazio galdara bat jarriz kalifikazioa C letraraino hobetu egin da. Ondorioz, aplikatutako neurriak onak dira letra asko hobetu baita eta eraikina efizienteagoa bihurtu baita.

Relação da doença periodontal com a anticoagulação oral e os benefícios do tratamento periodontal em pacientes anticoagulados

Anticoagulantes orais são amplamente indicados para prevenção de eventos tromboembólicos. No entanto, nem sempre os pacientes atingem a faixa terapêutica recomendada. Os objetivos desse estudo foram avaliar a associação entre periodontite e níveis de anticoagulação (fase 1) e o efeito do tratamento periodontal nos níveis de anticoagulação (fase 2) em pacientes que faziam uso do anticoagulante oral varfarina. O exame clínico incluiu índice CPO-D, índice de placa, sangramento à sondagem, profundidade de bolsa e nível de inserção clínica. Coeficiente normalizado internacional (INR), níveis de albumina, proteína C-reativa (PCR) e fibrinogênio foram avaliados no dia zero e até 180 dias após tratamento periodontal. Na fase 1 do estudo foram examinados 62 pacientes (42 mulheres e 20 homens, com idade média de 50,8 9,2 anos). Observamos uma correlação negativa entre extensão e severidade da doença periodontal e índice de placa com valores de INR. Não houve associação entre diagnóstico periodontal e níveis de anticoagulação. Dentre os pacientes fora do alvo terapêutico, 87% apresentavam diagnóstico de periodontite, enquanto no grupo na faixa terapêutica apenas 56%. Participaram da fase 2 do estudo 26 pacientes com periodontite severa (15 mulheres e 11 homens, com idade média de 51,3 9,2 anos). O tratamento periodontal resultou em melhora significativa de todos os parâmetros periodontais e dos níveis de anticoagulação 30, 60 90 e 180 dias após conclusão da terapia periodontal. Não houve alteração significativa na dose semanal da varfarina. Foi observada redução significativa entre níveis séricos de albumina dos dia 90 e 180 após a terapia periodontal, quando comparado aos valores do dia 0 (p < 0,05). De acordo com o alvo terapêutico estabelecido, observamos que no dia 0 doze pacientes (46,15%) estavam fora dessa faixa. Esse percentual foi reduzido significativamente após tratamento periodontal, sendo 26,1% e 29,2% nos dias 60 e 90, respectivamente. Embora tenha ocorrido melhora nos níveis de anticoagulação, não houve alteração significativa nos níveis de PCR e fibrinogênio. Sendo assim, pacientes com periodontite severa podem apresentar dificuldade para atingir a faixa terapêutica e o tratamento periodontal pode resultar em benefícios na busca da anticoagulação plena. Novos estudos são necessários para avaliar se formas menos severas de doença periodontal também podem interferir com a varfarina.