Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling

<p>Abstract</p> <p>Background</p> <p>The purpose of this study was to identify mutations associated with bilateral retinoblastoma in a quadruplet conceived by in vitro fertilization, and to trace the parental origin of mutations in the four quadruplets and their father.</p> <p>Methods</p> <p>Mutational screening was carried out by sequencing. Genotyping was carried out for determining quadruplet zygosity.</p> <p>Results</p> <p>The proband was a carrier of a novel <it>RB1</it> constitutive mutation (g.2056C>G) which was not detected in her father or her unaffected sisters, and of two other mutations (g.39606 C>T and g.174351T>A) also present in two monozygotic sisters. The novel mutation probably occurred de novo while the others were of likely maternal origin. The novel mutation, affecting the Kozak consensus at the 5'UTR of <it>RB1</it> and g.174351T>A were likely associated to retinoblastoma in the proband.</p> <p>Conclusion</p> <p>Molecular diagnosis of retinoblastoma requires genotypic data of the family for determining hereditary transmission. In the case of children generated by IVF with oocytes from an anonymous donor which had been stored in a cell repository, this might not be successfully accomplished, making precise diagnosis impracticable for genetic counseling.</p

A 6 year Geohelminth infection profile of children at high altitude in Western Nepal

<p>Abstract</p> <p>Background</p> <p>Geohelminth infections are a major problem of children from the developing countries. Children with these infections suffer from developmental impairments and other serious illnesses. This study aimed to measure the prevalence of geohelminth infection, infection intensity as well as the change in the intensity in children from Western Nepal over years.</p> <p>Methods</p> <p>This 6-year hospital based prospective study at the Manipal Teaching Hospital, Pokhara included children (< 15 years) visiting the hospital from Kaski and 7 surrounding districts. Samples were also collected from children in the community from different medical camps. Three stool samples from every child were processed using direct and concentration methods. The Kato-Katz technique was used for measuring the intensity of infection.</p> <p>Results</p> <p>The overall prevalence in hospital - attending children was 9.2% with 7.6% in preschool (0 – 5 y) and 11.0% in school-age (6 – 15 y) children, and in community 17.7% with 14.8% in pre-school and 20.5% in school-age children. <it>Ascaris lumbricoides</it>, <it>Trichuris trichiura</it>, <it>Ancylostoma deodenale </it>and <it>Strongyloides stercoralis </it>were the common geohelminths with a gradual decrease in worm load over the years. School-age children were found to be significantly more prone to geohelminth infection as compared to preschool children, but no statistical difference was detected by gender, district as well as season.</p> <p>Conclusion</p> <p>This heavy infection of geohelminths in children should be corrected by appropriate medication and maintaining strict personal hygiene. Health education, clean water, good sewage management and a congenial environment should be ensured to minimise infection.</p

Multi-messenger observations of a binary neutron star merger

On 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of ~1.7 s with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg2 at a luminosity distance of 40+8-8 Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 Mo. An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at ~40 Mpc) less than 11 hours after the merger by the One- Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ~10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position ~9 and ~16 days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta

A numerical model for the fractional condensation of pyrolysis vapours

Experimentation on the fast pyrolysis process has been primarily focused on the pyrolysis reactor itself, with less emphasis given to the liquid collection system (LCS). More importantly, the physics behind the vapour condensation process in LCSs has not been thoroughly researched mainly due to the complexity of the phenomena involved. The present work focusses on providing detailed information of the condensation process within the LCS, which consists of a water cooled indirect contact condenser. In an effort to understand the mass transfer phenomena within the LCS, a numerical simulation was performed using the Eulerian approach. A multiphase multi-component model, with the condensable vapours and non-condensable gases as the gaseous phase and the condensed bio-oil as the liquid phase, has been created. Species transport modelling has been used to capture the detailed physical phenomena of 11 major compounds present in the pyrolysis vapours. The development of the condensation model relies on the saturation pressures of the individual compounds based on the corresponding states correlations and assuming that the pyrolysis vapours form an ideal mixture. After the numerical analysis, results showed that different species condense at different times and at different rates. In this simulation, acidic components like acetic acid and formic acids were not condensed as it was also evident in experimental works, were the pH value of the condensed oil is higher than subsequent stages. In the future, the current computational model can provide significant aid in the design and optimization of different types of LCSs

Computational modelling of the condensation of fast pyrolysis vapours in a quenching column. Part A: Hydrodynamics, heat transfer and design optimisation

Direct contact heat exchangers (quenching columns) are considered to be the optimum types of heat exchangers for the fast pyrolysis process. In this study, the hydrodynamics and heat transfer characteristics of a bench scale quenching column are presented. These have been compared with the experimental observations on flooding phenomena which are reported when the quenching column is operated at the design gas flow rates of the fast pyrolysis reactor. The quenching column was found to operate without flooding at 10% of the design flow rate, while flooding was still present even at 50% of the design gas flow rate. Four different design configurations, which are different in terms of weirs and hole placement on the disc and donut plates, are modelled and tested under full gas flow rate conditions. All four cases show normal quenching column operation without any flooding phenomena present and a gas flow time of less than 1 s. The pressure drop across the system was considerably reduced to 15Pa in the modified configuration compared to 90Pa in the baseline model. The hydrodynamic and heat transfer characteristics are thoroughly analysed and proposed optimal design configuration for the effective quenching operation

Computational modelling of the condensation of fast pyrolysis vapours in a quenching column. Part A: Hydrodynamics, heat transfer and design optimisation

Direct contact heat exchangers (quenching columns) are considered to be the optimum types of heat exchangers for the fast pyrolysis process. In this study, the hydrodynamics and heat transfer characteristics of a bench scale quenching column are presented. These have been compared with the experimental observations on flooding phenomena which are reported when the quenching column is operated at the design gas flow rates of the fast pyrolysis reactor. The quenching column was found to operate without flooding at 10% of the design flow rate, while flooding was still present even at 50% of the design gas flow rate. Four different design configurations, which are different in terms of weirs and hole placement on the disc and donut plates, are modelled and tested under full gas flow rate conditions. All four cases show normal quenching column operation without any flooding phenomena present and a gas flow time of less than 1 s. The pressure drop across the system was considerably reduced to 15Pa in the modified configuration compared to 90Pa in the baseline model. The hydrodynamic and heat transfer characteristics are thoroughly analysed and proposed optimal design configuration for the effective quenching operation

Pancreatic tuberculosis mimicking malignancy in an immunocompetent Individual

Tuberculosis of pancreas in an immunocompetent individual is rare even in endemic regions. We report here one such case where in a 53-year-old man presented with jaundice, weight loss and cervical lymphadenopathy. Base line liver functions were deranged. Imaging studies of abdomen and chest revealed a pancreatic mass and miliary filtrates. Fine needle aspiration cytology of cervical lymph nodes was suggestive of tuberculosis. In view of deranged baseline liver functions the patient was started on a modified daily self-supervised antituberculosis treatment and oral corticosteroid treatment made an uneventful recovery with complete resolution of mass lesion