83 research outputs found
A Trial Installation of High Voltage Composite Cross-arms
Four high voltage composite cross-arms have been installed as part of a non-energised trial taking place in the Scottish Highlands. The non-cylindrical geometry of their two main structural members offers improved mechanical strength-to-weight ratio compared to cylindrically-shaped insulators of similar cross-sectional area. The instrumentation system aims to monitor mechanical performance through the use of embedded strain gauges and a combination of a load cell, accelerometer and inclinometer at the cross-arm nose. An industrial data capture and control platform is used to capture sensor outputs and store them until retrieval. Networked cameras with local storage capabilities are used to capture video recordings of the cross-arms. The trial has helped establish handling, transportation and installation procedures. The first results from the instrumentation system indicate the resilience of the cross-arms to winds reaching up to 151 mph (243 km/h) while no irregularities regarding snow and ice accretion have been observed
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates. Although there is no cure for SCA3, gene-silencing approaches to reduce toxic polyQ ATXN3 showed promise in preclinical models. However, a major limitation in translating putative treatments for this rare disease to the clinic is the lack of pharmacodynamic markers for use in clinical trials. Here, we developed an immunoassay that readily detects polyQ ATXN3 proteins in human biological fluids and discriminates patients with SCA3 from healthy controls and individuals with other ataxias. We show that polyQ ATXN3 serves as a marker of target engagement in human fibroblasts, which may bode well for its use in clinical trials. Last, we identified a single-nucleotide polymorphism that strongly associates with the expanded allele, thus providing an exciting drug target to abrogate detrimental events initiated by mutant ATXN3. Gene-silencing strategies for several repeat diseases are well under way, and our results are expected to improve clinical trial preparedness for SCA3 therapies
Infective endocarditis due to Bartonella bacilliformis associated with systemic vasculitis: a case report
High success rate of repeat colonoscopy with standard endoscopes in patients referred for prior incomplete colonoscopy
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma
Photography-based taxonomy is inadequate, unnecessary, and potentially harmful for biological sciences
The question whether taxonomic descriptions naming new animal species without type specimen(s) deposited in collections should be accepted for publication by scientific journals and allowed by the Code has already been discussed in Zootaxa (Dubois & NemĂ©sio 2007; Donegan 2008, 2009; NemĂ©sio 2009aâb; Dubois 2009; Gentile & Snell 2009; Minelli 2009; Cianferoni & Bartolozzi 2016; Amorim et al. 2016). This question was again raised in a letter supported
by 35 signatories published in the journal Nature (Pape et al. 2016) on 15 September 2016. On 25 September 2016, the following rebuttal (strictly limited to 300 words as per the editorial rules of Nature) was submitted to Nature, which on
18 October 2016 refused to publish it. As we think this problem is a very important one for zoological taxonomy, this text is published here exactly as submitted to Nature, followed by the list of the 493 taxonomists and collection-based
researchers who signed it in the short time span from 20 September to 6 October 2016
The genetics of myopia
Myopia is the most common eye condition worldwide and its prevalence is increasing. While changes in environment, such as time spent outdoors, have driven myopia rates, within populations myopia is highly heritable. Genes are estimated to explain up to 80% of the variance in refractive error. Initial attempts to identify myopia genes relied on family studies using linkage analysis or candidate gene approaches with limited progress. More genome-wide association study (GWAS) approaches have taken over, ultimately resulting in the identification of hundreds of genes for refractive error and myopia, providing new insights into its molecular machinery. These studies showed myopia is a complex trait, with many genetic variants of small effect influencing retinal signaling, eye growth and the normal process of emmetropization. The genetic architecture and its molecular mechanisms are still to be clarified and while genetic risk score prediction models are improving, this knowledge must be expanded to have impact on clinical practice
Predictors of quality of life of hemodialysis patients in India
Little is known about the quality of life and survival in the patients on maintenance hemodialysis (HD) in India. Poor nutrition and dialysis noncompliance is common. This study investigates the factors that affect the quality of life (QoL) in HD patients in India. This cross-sectional study included 78 patients on HD for â„ two months. Demographic, nutritional, functional subjective global assessment and Kidney Disease Quality of Life (KDQOL-36) assessments were done. Predictors of QoL were assessed by regression analysis. The mean calorie and protein intake were 1245 ± 116.9 kcal and 0.86 ± 0.19 g/kg/day respectively. Male gender (OR = 9.68), serum parathyroid hormone PTH <150 pg/ml (OR = 0.03), age â€65 years (OR = 1.25), no catheter use (OR = 1.9) and hospitalizations (OR = 0.11), were independent predictors of total score â„50. Independent predictors of physical component summary (PCS) >25 were male gender (OR = 5.06) and urine output at start of dialysis (OR = 1.05). Independent predictors of mental component summary (MCS) â„25 were male gender (OR = 11.02), serum PTH > 150 pg/ml (OR = 0.15), daily protein intake of >0.8 g/kg and caloric intake >20 K.cal/kg (OR = 10.8). Patients with urine output >1 liter per day had more hypotensive episodes during dialysis (r = 0.56, P = 0.045), more headaches (r = 0.63, P = 0.006) but that did not affect the PCS significantly. Low PTH (<150 pg/ml) (OR = 1.29), multiple access failures (OR = 3.36) and total score â€50 (OR = 0.09) were independently associated with increased hospitalization. Males, patients with serum PTH >150 pg/ml and those not on catheter had better total score. Though patients with higher urine output had better PCS, those with output >1 liter had higher incidence of hypotension and dialysis-related headache. Protein-energy malnutrition affected the MCS significantly. Dialysis noncompliance seen in one-fourth of the population did not affect the scores significantly
Bilateral psoas and bilateral perinephric abscesses complicating acute pyelonephritis in pregnancy
Acute pyelonephritis complicates 1-2% of pregnancies and causes significant maternal and fetal morbidity and mortality. The diagnosis of renal tuberculosis (TB) is often delayed and commonly presents with sterile pyuria or along with other pyogenic organisms. We report a case where the diagnosis of renal TB was missed in a pregnant woman when she presented with acute pyelonephritis, septic shock, and acute renal failure. There was clinical recovery with antibiotics, but bilateral psoas and perinephric abscesses (TB, Enterococcus sp., and E. coli) were diagnosed when she presented with loin pain and palpable left renal angle swelling. Bilateral psoas abscess due to TB in the absence of skeletal TB and human immunodeficiency virus infection is rare. The presentation of renal TB in pregnancy, its complications, and its management are discussed
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