Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2. These siblings also displayed deficits in proprioception and touch sensation. Whole-exome sequencing performed in the three affected siblings revealed the presence of a rare homozygous variant (c.2708C>G; p.S903*) in PIEZO2. This variant is predicted to disrupt PIEZO2 function by abolishing the pore domain. Sanger sequencing confirmed that all three siblings are homozygous whereas their parents and an unaffected sibling are heterozygous for this variant. Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene.

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Globally a large number of process-based models have been assessed for quantification of agricultural greenhouse gas (GHG) emissions. Modelling approaches minimize the presence of spatial variability of biogeochemical processes, leading to improved estimates of GHGs as well as identifying mitigation and policy options. The comparative performance of the three dynamic models (e.g., DNDC v9.4, DailyDayCent and ECOSSE v5+) with minimum numbers of common input parameters was evaluated against measured variables. Simulations were performed on conventionally-tilled spring barley crops receiving N fertilizer at 135-159 kg•N•ha −1 •yr −1 and crop residues at 3 t•ha −1 •yr −1. For surface soil nitrate (0-10 cm), the ECOSSE and DNDC simulated values showed significant correlations with measured values (R 2 = 0.31-0.55, p < 0.05). Only the ECOSSE-simulated N2O fluxes showed a significant relationship (R 2 = 0.33, p < 0.05) with values measured from fertilized fields, but not with unfertilized ones. The DNDC and DailyDayCent models significantly underestimated seasonal/annual N2O fluxes compared to ECOSSE, with emission factors (EFs), based on an 8-year average, were 0.09%, 0.31% and 0.52%, respectively. Predictions of ecosystem respiration by both DailyDayCent and DNDC showed reasonable agreement with Eddy Covariance data (R 2 = 0.34-0.41, p < 0.05). Compared to the measured value (3624 kg•C•ha −1 •yr −1), the ECOSSE underestimated annual heterotrophic respiration by 7% but this was smaller than the DNDC (50%) and DailyDayCent (24%) estimates. All models simulated CH4 uptake well although the ECOSSE * Corresponding author. M. I. Khalil et al. 504 prediction was closer (−29 g•C•ha −1 •yr −1) to the measured one (2.9). The site-specific results imply that the ECOSSE model performed better under Irish conditions. However, further refinement and validation of all of the models with a more extensive dataset that includes other land-use and soil types will be required to determine their suitability in providing national estimates.

Depression in idiopathic Parkinson's disease is highly prevalent that can significantly impair the quality of life. Its exact mechanism of development is still poorly understood. It is well studied in western population but data from Asia especially in the South Asian region is limited. Considering this, to identify the potential risk factors of depression, a cross-sectional study was conducted among Parkinson's disease patients attending a tertiary care hospital in Bangladesh between July 2013-June 2014, in the Department of Neurology, Shaheed Suhrawardy Medical College and Hospital in Dhaka, Bangladesh. One hundred thirty seven cases of Parkinson's disease were enrolled, based on UK Parkinson's Disease Society Brain Bank criteria. Brain MRI was done in all cases, and patients with aphasia, significant cognitive deficits, secondary Parkinsonism were excluded. The overall prevalence of depression in the study population was 42%. There were no significant differences in gender, residence, education, smoking and marital status. In univariate analysis, age≥70 years, un-employed, right side predominantly involved, disease duration ≥5 years, sleep disturbance, postural instability, dose of levodopa ≥500 mg/day, Hoehn and Yahr stage ≥III and moderate to severe disability were significantly associated with depressive disorder. Whereas in multivariate linear stepwise regression model, age ≥70 years, (p=0.044), right side predominant involvement (p<0.001); sleep disturbance (p=0.006) and dose of levodopa ≥500 mg/day (p<0.001) were the major risk factors for depressive disorder. A significant proportion of Parkinson's disease patients suffer from depression. It was identified that depression in Parkinson's disease was significantly associated with advancing age, predominate right side involvement, sleep disturbance and higher daily dose of levodopa.

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Cladosporium sp. plays an important role in human health, it is one of the pathogenic fungi which cause allergy and asthma and most frequently isolated from airborne spores. In this study, a couple of universal PCR primers were designed to identify the pathogenic fungi Cladosporium sp. according to conserved region 5.8S, 18S and 28S subunit ribosomal RNA gene in Cladosporium species. In silico RFLP-PCR were used to identify twenty-four Cladosporium strains. The results showed that the universal primer has the specificity to amplify the conserved region in 24 species as a band in virtual agarose gel. They also showed that the RFLP method is able to identify three Cladosporium species by specific and unique restriction enzymes for each one. These species are Cl. halotorenas by the two unique enzymes BsaXI and MobII, the other species is Cl. colrandse by two enzymes BccI and BtsCI, while the third species is Cl. aciculare by one enzyme BceAI. Each enzyme forms two bands in virtual agarose gel as a results of cutting the DNA by the enzyme, where the rest twentytwo species share more than one restriction enzymes. This method is active and rapid for identifying Cladosporium genus and three species by computational bases methods before applying it in the lab for more accuracy, efficiency, and specificity of designed primer to get good results in a short time.