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040) as determined by SMI. Weeks of gestation correlated negatively correlated with PI (P=0.008), RI (P=0.004), S/D (P=0.015), and vessels per unit area (P=0.014) by CDFI, and positively with RI (P less then 0.001) and S/D (P=0.001) by SMI. The results of stratified comparisons of CDFI and SMI based on age, weight, and gestational weeks were consistent overall. CONCLUSIONS SMI, which has a higher rate of placental vascularity, a clearer display of capillaries, a greater sensitivity to low flow, and an advantage in displaying microcirculation of the placenta, can serve as a new and effective method of evaluating placental blood flow.BACKGROUND Left ventricular assist device (LVAD) implantation may improve kidney function, but in patients awaiting heart transplantation, the long-term effects of LVAD implantation on renal function and subsequent clinical outcome are unclear. MATERIAL AND METHODS We analyzed data in patients with LVAD implants (n=139) and without LVAD implants (n=1038) who were listed for a heart transplant at our institution between 2000 and 2019. The primary endpoint was an impairment in renal function (decrease of creatinine-based estimated glomerular filtration rate [eGFR] by ≥30%) up to a maximum of 2 years after listing. Secondary endpoints were chronic kidney disease stage 4 or 5, heart transplantation, survival during listing, and 1-year survival after transplantation. RESULTS Values for eGFR increased after LVAD implantation (P=0.001) and were higher at the time of waitlisting in the LVAD group than in the non-LVAD group (P=0.002), but were similar between groups at the end of waitlisting (P=0.75). Two-year freedom from renal impairment was 50.6% and 66.7% in the LVAD and non-LVAD groups, respectively, with a multivariable-adjusted hazard ratio for the LVAD versus the non-LVAD group of 1.78 (95% confidence interval 1.19-2.68; P=0.005). Two-year freedom from chronic kidney disease stages 4-5 was similar between study groups (LVAD group 83.5%; non-LVAD group 80.1%; =0.50). The 2-year probability of transplantation was slightly lower in the LVAD group than in the non-LVAD group (50.0% and 55.8%, respectively, P=0.017). However, 2-year survival on the waiting list and 1-year survival after transplantation did not differ significantly between study groups (P-values >0.20). CONCLUSIONS Our data indicate a transient improvement in creatinine-based eGFR values by LVAD implantation without influencing survival.The ongoing pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has affected millions of people worldwide and with notable heterogeneity in its clinical presentation. Probability of contracting this highly contagious infection is similar across age groups but disease severity and fatality among aged patients with or without comorbidities are reportedly higher. Previous studies suggest that age associated transcriptional changes in lung and immune system results in a proinflammatory state and increased susceptibility to infectious lung diseases. Similarly, SARS-CoV-2 infection could augment ageing-related gene expression alterations resulting in severe outcomes in elderly patients. To identify genes that can potentially increase covid-19 disease severity in ageing people, we compared age associated gene expression changes with disease-associated expression changes in lung/BALF and whole blood obtained from publicly available data. We observed (i) a significant overlap of gene expression profiles of patients' BALF and blood with lung and blood of the healthy group, respectively; (ii) a more pronounced overlap in blood compared to lung; and (iii) a similar overlap between host genes interacting with SARS-CoV-2 and ageing blood transcriptome. Pathway enrichment analysis of overlapping gene sets suggest that infection alters expression of genes already dysregulated in the elderly, which together may lead to poor prognosis. eQTLs in these genes may also confer poor outcome in young patients worsening with age and comorbidities. Further, the pronounced overlap observed in blood may explain clinical symptoms including blood clots, strokes, heart attack, multi-organ failure etc. in severe cases. This model based on a limited patient dataset seems robust and holds promise for testing larger tissue specific datasets from patients with varied severity and across populations.Rett syndrome (RTT) is an X-linked disorder caused by mutations in MECP2 in majority of cases. It is characterized by arrested development between 6 and 18 months of age, regression of acquired hand skills and speech, stereotypic hand movements, gait abnormalities and seizures. There are a very few studies in India which illustrates mutation spectrum in RTT. None of the studies have correlated seizures with the genotype. This study describes the phenotype and genotype spectrum in children with RTT syndrome and analyses the association of epilepsy with various clinical features and molecular findings. All children with RTT in our cohort had global developmental delay. Genetic diagnosis identified mutations of the MECP2 in all 25 children where RTT was suspected. We have identified point mutations in 20 patients, one insertion and four deletions by Sanger sequencing, namely c.1164_1207 (44 bp), c.1165_1207 (43 bp), c.1157_1197 (41 bp) del and c.1157_1188 (32 bp). Clinically, none of the patients with deletion had seizures. We identified one novel insertion variant c.337_338 (p.S113Ffs*9). All the deletions were located in the C-terminal region. Majority of the mutations (22/25) were identified in exon 4 which comprised of nonsense and missense types. Screening of hotspot mutations in exon 4 should be the first line evaluation in diagnosis of RTT. Molecular testing could help in specific management of seizures in RTT.Gene rearrangements, such as anaplastic lymphoma kinase (ALK), c-ros oncogene 1 receptor tyrosine kinase (ROS1), rearranged during transfection (RET) and neurotrophic receptor tyrosine kinase 1 (NTRK1), identified in cancer have been indicated to be robust therapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery of novel gene fusions is also valuable for LARC research. We used mass spectrometry-based assays and RNA sequencing to detect both known ALK, ROS1, RET and NTRK1 rearrangements and novel gene fusions in LARC patients. FusionMap was also used to find gene fusions. None of the ALK, ROS1, RET or NTRK1 gene fusions were detected by mass spectrometry-based assays or RNA sequencing. Three fusion candidates, integrin subunit beta 7 (ITGB7)-ROS1, lamin A/C (LMNA)-NTRK1 and Golgi-associated PDZ and coiled-coil motif containing (GOPC)-keratin 8 (KRT8), showed relatively high junction-spanning reads by the FusionMap algorithm, but did not pass validation. These results suggest that no ALK, ROS1 or RET rearrangements were found in LARC.Gloriosa superba is an economical source of pharmaceutical colchicine, which is a mitotic poison used to treat gout, cancer and inflammatory diseases. It is important to study the genetic variations in this plant, but the progress is impeded due to limited number of molecular markers. In this study, we developed the expressed sequence tag-derived simple sequence repeat (EST-SSR) markers from the transcriptome sequence of the leaf samples of three different ecotypes of G. superba. De novo assembly was performed on these sequencing data to generate a total of 65,579 unigenes and 38,200 coding sequences (CDSs). These CDSs were annotated using NCBI Nr protein database, gene ontology terms and KEGG pathways. Differential gene expression was studied to yield differences in these ecotypes at the molecular level. Finally, a total of 14,672 potential EST-SSRs were identified from these unigenes, among which the dinucleotide (5754, 39.22%) and trinucleotide (5421, 36.95%) repeats were most abundant types followed by mononucleotides (3213, 21.83%). The most frequent motifs were CT/GA (1392, 9.48%), AG/TC (1219, 8.31%), and GA/CT (1146, 7.82%) among the dinucleotide repeats and CCG/ CGG (1487, 10.13%), AGG/CCT (1421, 9.68%), AGC/CTG (697, 4.75%) and AAG/CTT (621, 4.23%) among the trinucleotide repeats. Polymorphism study using a random set of 20 newly developed EST-SSRs revealed polymorphic information content value ranging from 0 to 0.5926 with an average of 0.4021. The large-scale ESTs developed in the current study will be useful as a genomic resource for further investigation of the genetic variations in this species.The genus Phlogacanthus Nees belongs to the family Acanthaceae and is represented by herbs or shrubs species. The present work shows detailed karyomorphological studies in two species, Phlogacanthus quadrangularis (Hook.) Heine and Phlogacanthus guttatus Nees. Both the species grow as undergrowth vegetation. The conservation status of both the species are yet to be determined. The somatic chromosome counts of both the mentioned species are available for the first time, 2n = 40 for P. quadrangularis and 2n = 34 for P. guttatus. The karyomorphological observations showed that both plant species show dominance of sub-telocentric chromosomes with a few metacentric chromosomes. P. quadrangularis have telocentric chromosomes which is absent in the other species. The range of length of chromosomes in P. quadrangularis is from 0.340 lm to 1.32 lm and that of P. guttatus is from 0.560 lm to 1.878 lm. The karyotype type of the two species are classified as 3B type. But the dispersion index (DI) value of both the species are different. P. guttatus shows higher value of DI than P. quadrangularis. Higher the DI value more specialized is the karyotype. see more By comparing the chromosome length, size, DI value and idiogram of both the species, it is concluded that the karyotype of P. guttatus is more asymmetric and advanced than karyotype of P. quadrangularis. The karyomorphological findings of the present study will aid in determining the importance and utility, ex-situ conservation, protection, preservation and regeneration of germplasm.The best linear unbiased prediction (BLUP), derived from the linear mixed model (LMM), has been popularly used to estimate animal and plant breeding values (BVs) for a few decades. Conventional BLUP has a constraint that BVs are estimated from the assumed covariance among unknown BVs, namely conventional BLUP assumes that its covariance matrix is a λK, in which λ is a coefficient that leads to the minimum mean square error of the LMM, and K is a genetic relationship matrix. The uncertainty regarding the use of λK in conventional BLUP was recognized by past studies, but it has not been sufficiently investigated. This study was motivated to answer the following question is it indeed reasonable to use a λK in conventional BLUP? The mathematical investigation concluded (i) the use of a λK in conventional BLUP biases the estimated BVs, and (ii) the objective BLUP, mathematically derived from the LMM, has the same representation as the least squares.The broad spectrum of causal variants in the newly discovered GIPC3 gene is well reflected in worldwide studies. Except for one missense variant, none of the reported variants had reoccurred, thus reflecting the intragenic heterogeneity. We screened all the six coding exons of GIPC3 gene in a large cohort of 177 unrelated prelingual hearing impaired after excluding the common GJB2, GJB6 nuclear and A1555G mitochondrial variants. We observed a single homozygous pathogenic frameshift variant c.685dupG (p.A229GfsX10), accounting for a low incidence (0.56%) of GIPC3 variants in south Indian population. GIPC3 being a rare gene as a causative for deafness, the allelic spectra perhaps became much more diverse from population to population, thus resulting in a minimal recurrence of the variants in our study, that were reported by authors from other parts of the globe.

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