Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

<p>Abstract</p> <p>Background</p> <p>Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature.</p> <p>Case presentation</p> <p>We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis.</p> <p>Conclusions</p> <p>Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.</p

Prebiotic potential of a maize-based soluble fibre and impact of dose on the human gut microbiota

Dietary management of the human gut microbiota towards a more beneficial composition is one approach that may improve host health. To date, a large number of human intervention studies have demonstrated that dietary consumption of certain food products can result in significant changes in the composition of the gut microbiota i.e. the prebiotic concept. Thus the prebiotic effect is now established as a dietary approach to increase beneficial gut bacteria and it has been associated with modulation of health biomarkers and modulation of the immune system. Promitor™ Soluble Corn Fibre (SCF) is a well-known maize-derived source of dietary fibre with potential selective fermentation properties. Our aim was to determine the optimum prebiotic dose of tolerance, desired changes to microbiota and fermentation of SCF in healthy adult subjects. A double-blind, randomised, parallel study was completed where volunteers (n = 8/treatment group) consumed 8, 14 or 21 g from SCF (6, 12 and 18 g/fibre delivered respectively) over 14-d. Over the range of doses studied, SCF was well tolerated Numbers of bifidobacteria were significantly higher for the 6 g/fibre/day compared to 12g and 18g/fibre delivered/day (mean 9.25 and 9.73 Log10 cells/g fresh faeces in the pre-treatment and treatment periods respectively). Such a numerical change of 0.5 Log10 bifidobacteria/g fresh faeces is consistent with those changes observed for inulin-type fructans, which are recognised prebiotics. A possible prebiotic effect of SCF was therefore demonstrated by its stimulation of bifidobacteria numbers in the overall gut microbiota during a short-term intervention

Global diversity and antimicrobial resistance of typhoid fever pathogens: Insights from a meta-analysis of 13,000 Salmonella Typhi genomes

Background: The Global Typhoid Genomics Consortium was established to bring together the typhoid research community to aggregate and analyse Salmonella enterica serovar Typhi (Typhi) genomic data to inform public health action. This analysis, which marks 22 years since the publication of the first Typhi genome, represents the largest Typhi genome sequence collection to date (n=13,000). Methods: This is a meta-analysis of global genotype and antimicrobial resistance (AMR) determinants extracted from previously sequenced genome data and analysed using consistent methods implemented in open analysis platforms GenoTyphi and Pathogenwatch. Results: Compared with previous global snapshots, the data highlight that genotype 4.3.1 (H58) has not spread beyond Asia and Eastern/Southern Africa; in other regions, distinct genotypes dominate and have independently evolved AMR. Data gaps remain in many parts of the world, and we show the potential of travel-associated sequences to provide informal ‘sentinel’ surveillance for such locations. The data indicate that ciprofloxacin non-susceptibility (>1 resistance determinant) is widespread across geographies and genotypes, with high-level ciprofloxacin resistance (=3 determinants) reaching 20% prevalence in South Asia. Extensively drug-resistant (XDR) typhoid has becomedominant in Pakistan (70% in 2020) but has not yet become established elsewhere. Ceftriaxone resistance has emerged in eight non-XDR genotypes, including a ciprofloxacin-resistant lineage (4.3.1.2.1) in India. Azithromycin resistance mutations were detected at low prevalence in South Asia, including in two common ciprofloxacin-resistant genotypes. Conclusions: The consortium’s aim is to encourage continued data sharing and collaboration to monitor the emergence and global spread of AMR Typhi, and to inform decision-making around the introduction of typhoid conjugate vaccines (TCVs) and other prevention and control strategies

Perspectives on the use of transcriptomics to advance biofuels

As a field within the energy research sector, bioenergy is continuously expanding. Although much has been achieved and the yields of both ethanol and butanol have been improved, many avenues of research to further increase these yields still remain. This review covers current research related with transcriptomics and the application of this high-throughput analytical tool to engineer both microbes and plants with the penultimate goal being better biofuel production and yields. The initial focus is given to the responses of fermentative microbes during the fermentative production of acids, such as butyric acid, and solvents, including ethanol and butanol. As plants offer the greatest natural renewable source of fermentable sugars within the form of lignocellulose, the second focus area is the transcriptional responses of microbes when exposed to plant hydrolysates and lignin-related compounds. This is of particular importance as the acid/base hydrolysis methods commonly employed to make the plant-based cellulose available for enzymatic hydrolysis to sugars also generates significant amounts of lignin-derivatives that are inhibitory to fermentative bacteria and microbes. The article then transitions to transcriptional analyses of lignin-degrading organisms, such as Phanerochaete chrysosporium, as an alternative to acid/base hydrolysis. The final portion of this article will discuss recent transcriptome analyses of plants and, in particular, the genes involved in lignin production. The rationale behind these studies is to eventually reduce the lignin content present within these plants and, consequently, the amount of inhibitors generated during the acid/base hydrolysis of the lignocelluloses. All four of these topics represent key areas where transcriptomic research is currently being conducted to identify microbial genes and their responses to products and inhibitors as well as those related with lignin degradation/formation.clos

Crosssectional study of quality of life after renal transplant in end stage renal disease

Background : End stage renal disease (ERD) is a psychologically debilitating illness with considerable emotional morbidity. There is variation in quality of life and mental health status among recipients and donor at different stages of kidney transplantation. Materials and Methods: The study is an observational analytic study. Sample for the study comprised of forty (40) consecutive patients including 20 recipients and 20 donors of 20 kidney transplantations, male and female, and who themselves/whose relatives provided written informed consent were included in the study. Both recipients and donors were followed-up from 2 weeks prior to transplant surgery to 6 months post-operatively by phone and when they came for review in Nephrology Out-Patient Department (OPD). Quality of life and mental health status was compared between the two groups. Results: Study groups were homogeneous on age, education, gender and marital status. After transplantation recipient′s mean score in all parameters had increased and all changes were statistically significant (<0.05). Conclusion: In this study significant changes in quality of life (QOL), and mental health status in recipients and donors before and after transplantation were noted. It is recommended to evaluate mental health related aspects of both donors and recipients

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Not AvailableWhite maize plays an important role in human diet, especially in traditional crop growing regions of northern hill region, north-eastern states and central-western parts of India. Breeding efforts to enhance the genetic potential of white maize was not so prominent as compared to yellow maize in the country. As a result, genetic base of the material utilized in white maize breeding program in India is very narrow and majorly contains indigenous germplasm and few introductions. Hence, efforts were made to use 365 white maize inbred lines from CIMMYT, Mexico, for breeding program. These new inbred lines were grown at winter nursery center, Indian Institute of Maize Research, New Delhi for its tropical adaptation. After preliminary evaluation, a total 47 inbred lines were selected and evaluated in randomized complete block design with two replications at Regional Maize Research and Seed Production Centre, Begusarai, Bihar, during rabi 2014. Out of this top performing 12 inbred lines viz, CML 47, CML 95, CML 314, CML 319, CML 377, CML 488, CML 494, CML 504, CML 517, CML 522, CML 531 and CML 538 were selected and were crossed in diallel manner to obtain 66 medium to long duration experimental hybrids. Stability analysis using AMMI model was done to identify adaptive hybrids with high yielding potentiality.According to the ASVi value obtained, the hybrid G38 appeared to be stable followed by G50 and G44. On theother hand, the hybrid G25 appeared as location specific hybrid suitable for high input conditions.Not Availabl