80 research outputs found
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatalâonset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing lateâonset (absence) seizures only at 7 years of age. Abnormal metabolite levels have not been documented in the nine patients described previously. One patient in our series was referred to the metabolic clinic because of persistent hyperprolinaemia and another three had raised plasma proline when tested. Analysis of the postâprandial plasma amino acid response in one patient showed abnormally high concentrations of several amino acids. This suggested that, in the fed state, when amino acids are the preferred fuel for the liver, transâdeamination of amino acids requires transportation of glutamate into liver mitochondria by SLC25A22 for deamination by glutamate dehydrogenase; SLC25A22 is an important mitochondrial glutamate transporter in liver as well as in brain. Electron microscopy of patient fibroblasts demonstrated widespread vacuolation containing neutral and phosphoâlipids as demonstrated by Oil Red O and Sudan Black tinctorial staining; this might be explained by impaired activity of the proline/pyrrolineâ5âcarboxylate (P5C) shuttle if SLC25A22 transports pyrrolineâ5âcarboxylate/glutamateâÎłâsemialdehyde as well as glutamate
The state of the Martian climate
60°N was +2.0°C, relative to the 1981â2010 average value (Fig. 5.1). This marks a new high for the record. The average annual surface air temperature (SAT) anomaly for 2016 for land stations north of starting in 1900, and is a significant increase over the previous highest value of +1.2°C, which was observed in 2007, 2011, and 2015. Average global annual temperatures also showed record values in 2015 and 2016. Currently, the Arctic is warming at more than twice the rate of lower latitudes
Impact of Optimized Breastfeeding on the Costs of Necrotizing Enterocolitis in Extremely Low Birthweight Infants
To estimate risk of NEC for ELBW infants as a function of preterm formula and maternal milk (MM) intake and calculate the impact of suboptimal feeding on NEC incidence and costs
Global survival trends for brain tumors, by histology: analysis of individual records for 556,237 adults diagnosed in 59 countries during 2000â2014 (CONCORD-3)
Background:
Survival is a key metric of the effectiveness of a health system in managing cancer. We set out to provide a comprehensive examination of worldwide variation and trends in survival from brain tumors in adults, by histology.
Methods:
We analyzed individual data for adults (15â99 years) diagnosed with a brain tumor (ICD-O-3 topography code C71) during 2000â2014, regardless of tumor behavior. Data underwent a 3-phase quality control as part of CONCORD-3. We estimated net survival for 11 histology groups, using the unbiased nonparametric Pohar Perme estimator.
Results:
The study included 556,237 adults. In 2010â2014, the global range in age-standardized 5-year net survival for the most common sub-types was broad: in the range 20%â38% for diffuse and anaplastic astrocytoma, from 4% to 17% for glioblastoma, and between 32% and 69% for oligodendroglioma. For patients with glioblastoma, the largest gains in survival occurred between 2000â2004 and 2005â2009. These improvements were more noticeable among adults diagnosed aged 40â70 years than among younger adults.
Conclusions:
To the best of our knowledge, this study provides the largest account to date of global trends in population-based survival for brain tumors by histology in adults. We have highlighted remarkable gains in 5-year survival from glioblastoma since 2005, providing large-scale empirical evidence on the uptake of chemoradiation at population level. Worldwide, survival improvements have been extensive, but some countries still lag behind. Our findings may help clinicians involved in national and international tumor pathway boards to promote initiatives aimed at more extensive implementation of clinical guidelines
Relationship of Brain Weight to Head Circumference in Early Infancy
Brain weight at the time of autopsy was compared with the occipito-frontal head circumference (OFC) in 251 newborns and infants. Over the range of occipitoÂfrontal circumference studied (24-44 cm), linear correlation best described the relationship between OFC and brain weight. These data would support the reliabilÂity of the OFC as a measurement of brain growth during early infancy
- âŠ