Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

<p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.</p> <p>Methods</p> <p>Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.</p> <p>Results</p> <p>The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.</p> <p>Conclusion</p> <p>A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.</p

Trade flows and carbon emissions: can we achieve climate targets?

Policymakers have been calling for actions to meet the UN targets to reduce emissions to 1990 levels. Aligned with the aim of this study, we use a range of machine learning methods to predict the carbon emissions of 30 countries and establish those that are on track to achieve the UN targets. We provide a breakdown of the forecasted freight modal emissions of 23 countries using trade flows. We segment them using K-Means clustering to compare their CO2 emanations. Our findings indicate that only three countries are in line with the mentioned targets. Thus, we propose actions for those that are not

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

<p>Abstract</p> <p>Background</p> <p>Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between <it>C1orf100 </it>and <it>C1orf121 </it>in 1q44.</p> <p>Results</p> <p>This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is <it>GLUT1 </it>gene (<it>SLC2A1</it>). However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively.</p> <p>Conclusion</p> <p>Haploinsufficiency of <it>GLUT1 </it>leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s) lying in 1q44 proximal to the <it>SMYD3 </it>gene.</p

The efficiency of nations in the struggle against the COVID-19 pandemic

The COVID-19 crisis has caused unprecedented suffering across the world. Millions have become infected, and hundreds of thousands have lost their lives. Nations mobilised their health workers and infrastructure to curb the spread of the disease and cure the infected. This paper aims to investigate the efficiency of nations in their struggle against the COVID-19 and how their efficiency changed over time analysing data from June and December 2020 with a novel three-stage methodology. In the first stage, we clustered 107 nations into highly competitive, competitive, and non-competitive countries using their Global Competitiveness Index scores published by the World Economic Forum evaluate a country in a group of comparable countries. In the second stage, we used Data Envelopment Analysis to assess the efficiency of each nation. In the third stage, we investigated the relationship between countries' efficiency and performance in 66 variables published in the United Nations Human Development Report along with the long-debated aspect of a nation's political governance regime using Tobit regression. Based on the data in June and December, the USA and the UK were the worst performers in the highly competitive nations cluster, Chile and Peru were the worst performers in the competitive nations cluster, and Brazil and Mozambique were the worst performers in the non-competitive nations cluster, respectively. Air pollution, international inbound tourists, urban population significantly reduced while domestic credit and gross national income per capita significantly increased efficiency, but the political regime did not affect efficiency

Plasma thiol levels are associated with disease severity in nonsegmental vitiligo

Background: Vitiligo is a depigmenting cutaneous disorder with complex pathogenesis. Thiol compounds are well-known organic structures that play a major role in melanogenesis. Aim: The aim of this study was to determine the association between plasma thiol level and disease severity in patients with nonsegmental vitiligo. Methods: A total of 73 patients with nonsegmental vitiligo (57 generalized and 16 localized type) and age- and sex-matched 69 healthy controls were enrolled in the study. Plasma levels of native thiols, disulfides, and total thiols were measured by a novel and automated assay. Disease severity of vitiligo was assessed with Vitiligo Area Scoring Index (VASI) score. The extent, stage, and spread of vitiligo of patients were evaluated according to the Vitiligo European Task Force (VETF) system. Results: The native and total thiol levels of vitiligo patients were higher than those of healthy control group (P≤0.001 and 0.001, respectively). The median VASI score of patients was 0.7 (0.02–28.30). Univariate analyses showed that plasma native thiol levels, VETF spread score, disease duration, and vitiligo type significantly correlated with VASI scores (r=0.237, P=0.043; r=0.458, P<0.001; and P<0.001, respectively). Stepwise multivariate analysis revealed that disease duration (β=0.017; P=0.005) and spread score (β=1.301; P=0.001) were found statistically significant as independent factors on VASI score. Conclusion: Although plasma native thiol level significantly correlated with VASI scores of patients, it is not a predictive factor for vitiligo severity

Effect of different resistant starch sources and wheat bran on dietary fibre content and in vitro glycaemic index values of cookies

Cross-linked starches produced in lab-scale from corn and wheat starches with TDF contents of 80.4% and 83.6% were used in cookie formulation to obtain high fibre and low glycaemic index (GI) cookies. Different resistant starch (RS) sources including and wheat bran were also used for comparison. RS sources were added into the formulation at the levels of 25, 50 and 75%. Overall cookie quality (spread ratio, hardness, colour) results showed that among the RS sources and wheat bran, lab-scale produced cross-linked wheat starch (XL-W) had an improving effect on cookie quality, whereas the other sources had detrimental effect. Cookie samples supplemented with XL-W had the highest total dietary fibre (TDF) contents regardless of the addition level. High levels of TDF content were also observed with the wheat bran supplemented cookie samples; however, quality of these cookies were low. RS and wheat bran supplementation caused significant decrease in the in vitro GI of the cookies and the lowest GI value was achieved with the cookie supplemented with XL-W. This study proved that XL-W produced in this study can be used as an alternative ingredient to produce high fibre and low GI cookies without any deteriorative effect on the quality