54 research outputs found
Genera of phytopathogenic fungi: GOPHY 3
This paper represents the third contribution in the Genera of Phytopathogenic Fungi (GOPHY) series. The series provides morphological descriptions, information about the pathology, distribution, hosts and disease symptoms for the treated genera, as well as primary and secondary DNA barcodes for the currently accepted species included in these. This third paper in the GOPHY series treats 21 genera of phytopathogenic fungi and their relatives including: Allophoma, Alternaria, Brunneosphaerella, Elsinoe, Exserohilum, Neosetophoma, Neostagonospora, Nothophoma, Parastagonospora, Phaeosphaeriopsis, Pleiocarpon, Pyrenophora, Ramichloridium, Seifertia, Seiridium, Septoriella, Setophoma, Stagonosporopsis, Stemphylium, Tubakia and Zasmidium. This study includes three new genera, 42 new species, 23 new combinations, four new names, and three typifications of older names
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose >7000 years ago. A wide age-range of patients (6–83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 ± 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses
Particleboard manufactured from Tauari (Couratari oblongifolia) wood waste using castor oil based polyurethane resin
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose >7000 years ago. A wide age-range of patients (6-83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 ± 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses
Correlation between CRP and beta-2 microglobulin in chronic hemodialysis patients with high-flux membrane
Background: One of the toxins accumulated in the body of hemodialysis patients is beta 2 microglobulin which is caused and increased by various factors. The one of this factors that can affect beta-2 macroglobulin is of membrane type that using in hemodialysis. In the present study, we examined the impact of C-reactive protein (CRP) as an inflammatory factor on beta-2 microglobulin in high-flux membrane hemodialysis patients. Methods: This cross-sectional study was done in 44 hemodialysis patients that have been dialyzed in two academic centers; Sina and Amir Alam Hospitals, Tehran, Iran from 2013 to 2014. The patients were hemodialyzed via fistula or permanent catheters three times a week for 4 hours for more than three months. Patients with known infectious disease, hemodialysis with low-flux membrane and dialysis less than three times a week were excluded. All patients were hemodialyzed using Fresenius biocompatible high-flux membrane (FX 100, Fresenius, Massachusetts, USA). Arterial blood sampling was performed. beta-2 microglobulin, CRP, BUN and creatinine tests were conducted for all patients. Results: Forty-four patients among the chronic hemodialysis patients were selected for final analysis. 20 males (44.5) and 24 females (54.5) were included in this study. The frequencies of underlying disease in patients participating in the study were as follows: hypertension, 23 cases (52.3); diabetes mellitus, 11 cases (25); hypertension and diabetes mellitus, 2 cases (4.5); obstructive disorder, 2 cases (4.5). In 23 patients (52.3), beta-2 macroglobulin was >12 mg/l and in 21 (47.7), it was <12 mg/l. 29 cases (65.9) had CRP values less than or equal 6 mg/l. However, there was no significant differences between beta-2 microglobulin and CRP levels (P= 0.460). Also regression analysis of data showed no relationship between beta-2 microglobulin and CRP levels (r= -047, P= 0.763). Conclusion: Although it seems that inflammatory factors can be effective in increasing beta-2 microglobulin, the present study did not find such a relationship between CRP and beta-2 microglobulin. © 2015, Tehran University of Medical Sciences. All rights reserved
Effects of size and type of raw material on temperature and vapour pressure behaviour of wood-based panels during hot-pressing
Isolated rupture of corpus spongiosum without urethral or cavernosal injury: A rare case of penile fracture
S13 Differential expression of CXC chemokines CXCL1, CXCL9, CXCL10 and CXCL12 in semen and serum of infertile and fertile men
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