Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus

Interstitial deletions of chromosome 3q22.3e25.1 are very rare with only five previous reports of deletions in this region [1,2,4,7,9]. We describe a case of a female infant with a de novo deletion. Dysmorphic features and congenital heart disease led to a clinical genetics assessment on day 1 of life. Chromosomal analysis showed an interstitial deletion with a female karyotype 46,XX,del (3)(q23q25.1) dn. Subsequent array CGH demonstrated the breakpoints as 3q22.3q25.1. This is the first documented association with a truncus arteriosus. We identify an emerging clinical phenotype of microphthalmia, microcephaly, congenital heart disease, slow feeding, skeletal abnormalities, with an abnormal facies and developmental delay. Array CGH demonstrated that the FOXL2 gene responsible for BPES was not deleted in this patient. (C) 2010 Elsevier Masson SAS. All rights reserved.

Supplemental oxygen and hyperbaric treatment at high altitude: Cardiac and respiratory response

Introduction: The most effective treatment for high altitude sickness is prompt descent. However, rapid descent is sometimes impossible and alternative solutions are desirable. Supplemental oxygen at ambient pressure and hyperbaric oxygen in a hyperbaric tent have both been demonstrated to improve symptoms and increase arterial oxygenation (SaO(2)) in those with high altitude sickness; however, their use in combination has not previously been described in a controlled study. Methods and Results: In this feasibility study, the SaO(2) of six healthy, well-acclimatized participants rose from 76.5 to 97.5% at 4900 m and 72.5 to 96.0% at 5700 m following the administration of oxygen via a nasal demand circuit (33 ml of oxygen per pulse) inside a hyperbaric tent (107 mmHg above ambient barometric pressure) (p

High capacity carbon based electrodes for lithium/oxygen batteries

Porous carbon aerogels are prepared by polycondensation of resorcinol (R) and formaldehyde (F)catalyzed by sodium carbonate (C) followed by carbonization of the resultant aerogels at 800? in an inert atmosphere. The porous texture of the carbons has been adjusted by the change of the molar ratio of resorcinol to catalyst (R/C) in the gel precursors in the range of 100 to 500. The porous structure of the aerogels and carbon aerogels are characterized by N2 adsorption-desorption measurements at 77 K. It is found that total pore volume and average pore diameter of the carbons increase with increase in the R/C ratio of the gel precursors.The prepared carbon aerogels are used as active materials in fabrication of composite carbon electrodes. The electrochemical performance of the electrodes has been tested by using them as cathodes in a Li/O2 cell. Through the galvanostatic charge/discharge measurements, it is found that with an increase of R/C ratio, the specific capacity of the Li/O2 cell fabricated from the carbon aerogels increases from 716 to 2077 charge/discharge cycles indicate that the carbon samples possess excellent stability on cycling.

Preparation of controlled porosity carbon-aerogels for energy storage in rechargeable lithium oxygen batteries

Porous carbon aerogels are prepared by polycondensation of resorcinol and formaldehyde catalyzed by sodium carbonate followed by carbonization of the resultant aerogels in an inert atmosphere. Pore structure of carbon aerogels is adjusted by changing the molar ratio of resorcinol to catalyst during gel preparation and also pyrolysis under Ar and activation under CO2 atmosphere at different temperatures. The prepared carbons are used as active materials in fabrication of composite carbon electrodes. The electrochemical performance of the electrodes has been tested in a Li/O2 cell. Through the galvanostatic charge/discharge measurements, it is found that the cell performance (i.e. discharge capacity and discharge voltage) depends on the morphology of carbon and a combined effect of pore volume, pore size and surface area of carbon affects the storage capacity. A Li/O2 cell using the carbon with the largest pore volume (2.195cm3/g) and a wide pore size (14.23 nm) showed a specific capacity of 1290mAh g-1.

Characterizing capacity loss of lithium oxygen batteries by impedance spectroscopy

Polymer based carbon aerogels were prepared by synthesis of a resorcinol formaldehyde gel followed by pyrolysis at 1073K under Ar and activation of the resultant carbon under CO2 at different temperatures. The prepared carbon aerogels were used as active materials in the preparation of cathode electrodes for lithium oxygen cells and the electrochemical performance of the cells was evaluated by galvanostatic charge/discharge cycling and electrochemical impedance measurements. It was shown that the storage capacity and discharge voltage of a Li/O2 cell strongly depend on the porous structure of the carbon used in cathode. EIS results also showed that the shape and value of the resistance in the impedance spectrum of a Li/O2 cell are strongly affected by the porosity of carbon used in the cathode. Porosity changes due to the build up of discharge products hinder the oxygen and lithium ion transfer into the electrode, resulting in a gradual increase in the cell impedance with cycling. The discharge capacity and cycle life of the battery decrease significantly as its internal resistance increases with charge/discharge cycling.