Novel compound heterozygous <i>ASXL3</i> mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.

BackgroundDe novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features.Case presentationWe describe, for the first time, a patient with severe short stature, learning difficulties, feeding difficulties and dysmorphic features with a novel compound heterozygous mutation in ASXL3.Additionally the patient also has primary insulin like growth factor-1 (IGF1) deficiency. The mutations occur in exon 11 and proximal part of exon 12 and are strongly conserved at the protein level across various species. In-silico analyses using PolyPhen-2 and SIFT predict the amino acid substitutions to be potentially deleterious to the protein function. Detailed bioinformatics analysis show that the molecular defects caused by the two compound heterozygous mutations synergistically impact on two points of the molecular interaction network of ASXL3.ConclusionWe hypothesise that ASXL3 potentially has a role in transcriptional activation of IGF1 involved in signalling pathways that regulate cell proliferation and growth, which could be contributing to short stature encountered in these patients

Geostatistical based soil fertility mapping of Horticultural Research Station, Rajikot, Jumla, Nepal

Geostatistical soil mapping is important for determining spatial distribution of soil parameters. This study was conducted to assess soil spatial distribution of the Horticultural Research Station, Rajikot, Jumla, Nepal. The total 27 samples were collected randomly at a depth of 0-20 cm by using soil sampling auger. A GPS device was used for determination of geographical position of soil sampling points. The collected samples were analyzed following standard analytical methods in the laboratory of National Soil Science Research Centre, Khumaltar. The Arc-GIS 10.1 software was used for the mapping spatial distribution of various soil parameters. The observed data revealed the structure was sub-angular blocky and granular, whereas colour were dark brown to dark grayish brown and dark yellowish brown. The sand, silt and clay content were ranged 24.40-72.10%, 19.40-63.10% and 6.20-14.50%, respectively and categorized loam, sandy loam and silt loam in texture. The soil pH was slightly acidic to moderately alkaline (5.01-8.06), and very low available sulphur (0.59-2.41 mg/kg) and very low to low available boron (0.04-0.87 mg/kg).&nbsp; Moreover, very low to medium available manganese (2.18-13.46 mg/kg), very low to very high available iron (4.50-138.58 mg/kg), and low to medium available magnesium (7.20-177.60.53 mg/kg) and zinc (0.26-1.66 mg/kg). Similarly, medium total nitrogen (0.09-0.22%), medium to high organic matter (1.71-6.26%) and available calcium (1200-3144 mg/kg), medium to very high available phosphorus (3.71-82.4 mg/kg) and potassium (59.37-173.05 mg/kg). Correspondingly, high to very high available copper (0.78-4.20 mg/kg). The determined soil test data can be used for sustainable soil management as well as developing future research strategy in the farm

Attitudes of Fruit and Vegetable Farmers towards Organic Farming in Kathmandu Valley, Nepal

Organic farming is increasingly popular among the farmers of Kathmandu valley. However, the organic growers have been facing issues in production, organic certification, and product marketing. To date, little is known about the challenges faced by the organic growers in Kathmandu valley. This study aimed to explore the status of organic farming, attitudes of farmers towards organic farming, their suggestions for improvement, and strengthening the value chain of organic products. Face-to-face interviews were conducted at Agriculture Knowledge Centre, Lalitpur, Nepal during December 2019 with 37 organic growers directly or indirectly involved in organic farming. The results showed that organic growers face challenges in marketing and institutional recognition. Challenges in product certification and marketing were reported by 45.95% of the total interviewed organic growers while following organic practices (transitional organic). Our study suggested that reducing the cost of production through easy access to organic inputs like organic seeds, fertilizers, and biopesticides are highly desired by the growers. Participatory Guarantee System (PGS) or group certification along with collective marketing could be the policy implications to address the issues. Organic farming in Kathmandu valley is limited to a niche market; however, due to increasing consumer demand for safe, fresh, and local food, the popularity of organic products is extending to other regions within the country

Nano catalysed Biginelli type reaction in green reaction media

102-109Green chemical approach has been developed by using ionic liquid [MIM-H] CCl3 and TiO2 nanoparticles (NPs) for the synthesis of 3,4-dihydropyrimidine-2(1H)-one (DHPMs) derivatives 4a-r. The formed compounds have been characterised by IR, 1H and 13C NMR and mass spectrometry

Qualitative Parental Perceptions of a Paediatric Multidisciplinary Team Clinic for Prader-Willi Syndrome

Objective:This preliminary review was conducted to inform the design of a new service to support families with children with Prader-Willi syndrome (PWS). Families were invited to attend a pilot clinic at a hospital outpatient department, comprising appointments with a multi-disciplinary team (MDT).Methods:Following the clinic, families (n=6) were invited to take part in semi-structured qualitative interviews that were audio-recorded, transcribed and analysed using thematic analysis.Results:Families reported that the clinic offered enhanced support in the following categories: integrated care; professional input; signposting to social support (respite and financial); connection with the wider PWS community; and behavioural support.Conclusion:This is the first paper that documents the parental perspective of an MDT clinic for children with PWS. The families felt an MDT clinic was superior to current care, offering more convenient access to an enhanced service, which would provide integrated and consistent care for their children’s diverse, challenging and changing needs

Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity.

Global dispersal and increasing frequency of the SARS-CoV-2 spike protein variant D614G are suggestive of a selective advantage but may also be due to a random founder effect. We investigate the hypothesis for positive selection of spike D614G in the United Kingdom using more than 25,000 whole genome SARS-CoV-2 sequences. Despite the availability of a large dataset, well represented by both spike 614 variants, not all approaches showed a conclusive signal of positive selection. Population genetic analysis indicates that 614G increases in frequency relative to 614D in a manner consistent with a selective advantage. We do not find any indication that patients infected with the spike 614G variant have higher COVID-19 mortality or clinical severity, but 614G is associated with higher viral load and younger age of patients. Significant differences in growth and size of 614G phylogenetic clusters indicate a need for continued study of this variant

Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission

Mitigation of SARS-CoV-2 transmission from international travel is a priority. We evaluated the effectiveness of travellers being required to quarantine for 14-days on return to England in Summer 2020. We identified 4,207 travel-related SARS-CoV-2 cases and their contacts, and identified 827 associated SARS-CoV-2 genomes. Overall, quarantine was associated with a lower rate of contacts, and the impact of quarantine was greatest in the 16–20 age-group. 186 SARS-CoV-2 genomes were sufficiently unique to identify travel-related clusters. Fewer genomically-linked cases were observed for index cases who returned from countries with quarantine requirement compared to countries with no quarantine requirement. This difference was explained by fewer importation events per identified genome for these cases, as opposed to fewer onward contacts per case. Overall, our study demonstrates that a 14-day quarantine period reduces, but does not completely eliminate, the onward transmission of imported cases, mainly by dissuading travel to countries with a quarantine requirement