383 research outputs found

    Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

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    Purpose: To describe two novel mutations in the eyes shut homolog (EYS) gene in two families with autosomal recessive retinitis pigmentosa (arRP) from Pakistan and Indonesia. Methods: Genome-wide linkage and homozygosity mapping were performed using single nucleotide polymorphism microarray analysis in affected members of the two arRP families. Sequence analysis was performed to identify genetic changes in protein coding exons of EYS. Results: In the Indonesian and Pakistani families, homozygous regions encompassing the EYS gene at 6q12 were identified, with maximum LOD scores of 1.8 and 3.6, respectively. Novel missense variants in the EYS gene (p.D2767Y and p.D3028Y) were found in the Pakistani and Indonesian families, respectively, that co-segregate with the disease phenotype. Interestingly, the missense variants are located at the same homologous position within the fourth and fifth laminin A G-like domains of EYS. Conclusions: To date, mostly protein-truncating mutations have been described in EYS, while only few patients have been described with pathogenic compound heterozygous missense mutations. The mutations p.D2767Y and p.D3028Y described in this study affect highly conserved residues at homologous positions in laminin A G-like domains and support the notion that missense mutations in EYS can cause arRP

    Controlling the alfalfa weevil--1985

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    "Alfalfa weevil larvae caused moderate to heavy damage in 1984 to the first cutting of alfalfa over the entire state. Adults and late developing larvae also caused some heavy damage to regrowth following removal of the first cutting over much of the state. Alfalfa acreage in Missouri is now about 650,000 acres."--First page.Rick L. Brandenburg, Micheal E. Brown and Ralph E. Munson (Department of Entomology), Howell N. Wheaton (Department of Agronomy, College of Agriculture)Revised 1/85/6

    Geospatial technology, a satellite -based change detection agent: imperative for analysis and management of vegetation resources in developing economy

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    The application of geospatial technology, apart from being used in diverse specialty of human endeavours, has made immense contribution towards monitoring and evaluating the vulnerability and changing pattern of diverse vegetation ecosystems. Thus, it is being rated among the most accurate means of detecting the trend of canopy cover conditions of a locality over a period of time. In the light of this, the present review focused on geospatial tool as a satellite-based change detection agent for the analysis of vegetation in sustainable resource management. Following the various conventional approaches to a critical review, the application of geospatial tool in the in-situ and ex-situ analytical phases has indicated its usefulness in evaluation of vegetation ecosystem. It has also proven useful in vegetation resource location and management, harvest planning, fire management, map development, strategic planning, modelling and statistical analysis. Its benefit for detecting changes gives more perspectives than the prehistoric ground measurement. It is faster, easier, energy and time-saving and accurately improving organisational integration. Though of great importance in change detection, geospatial tool is associated with four major issues which include institutional, social, economic and infrastructural challenges. However, researchers should be encouraged to explore this application in order to detect future trend (forecasting) and make researches more globally acceptable

    Laparoscopic and bacteriologic evidence of bacterial vaginosis in unexplained infertility

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    Background: Aim of current study was to estimate the prevalence of Bacterial Vaginosis (BV) among women with Unexplained Infertility (UI) and to describe laparoscopic appearances in positive cases.Methods: Design: Prospective randomized comparative diagnostic trial. Setting: Tertiary care referral facility and University hospital. Patients: One hundred and fifty women divided into UI study group A (120 cases) and a control group B (30 cases). Intervention(s): Vaginal and endouterine swabs form two subgroups of the UI group (60 cases each) and vaginal swabs from control group (30 cases). All swabs were tested using Amsel's criteria then cultured. Thereafter, UI group (60 cases) was subjected to diagnostic laparoscopy. Main outcome measure(s):  the prevalence of BV among women with UI and laparoscopic findings among positive cases.Results: In the study group, the number of positive cases of BV confirmed by culture was 51 cases (42.5%) while it was diagnosed in three cases (10%) in group B (P = 0.0001). In group A, BV was diagnosed in 24 and 27 infertile cases with periods of infertility less than and more than 3 years respectively and in 39 patients (32.5%) with recurrent vaginitis without statistically significant difference. There was an insignificant difference in diagnosis of BV whether the site of sample was the posterior fornix of the vagina or the endometrial cavity. Positive laparoscopic findings were reported in 77 patients (64.2%). The most common laparoscopic abnormalities were hyperemic uterus and chronic salpingitis.   Conclusions: BV is frequently implicated in female infertility and it is probably an underestimated cause of UI. There is no extra benefit from using culture instead of Amsel’s criteria for the diagnosis of BV.  No difference in the site of sample taking in diagnosis of BV from posterior vaginal fornix or endometrial cavity.  Laparoscopy is very beneficial in explaining the effect of BV on the upper genital tract

    Geospatial technology, a satellite -based change detection agent: imperative for analysis and management of vegetation resources in developing economy

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    The application of geospatial technology, apart from being used in diverse specialty of human endeavours, has made immense contribution towards monitoring and evaluating the vulnerability and changing pattern of diverse vegetation ecosystems. Thus, it is being rated among the most accurate means of detecting the trend of canopy cover conditions of a locality over a period of time. In the light of this, the present review focused on geospatial tool as a satellite-based change detection agent for the analysis of vegetation in sustainable resource management. Following the various conventional approaches to a critical review, the application of geospatial tool in the in-situ and ex-situ analytical phases has indicated its usefulness in evaluation of vegetation ecosystem. It has also proven useful in vegetation resource location and management, harvest planning, fire management, map development, strategic planning, modelling and statistical analysis. Its benefit for detecting changes gives more perspectives than the prehistoric ground measurement. It is faster, easier, energy and time-saving and accurately improving organisational integration. Though of great importance in change detection, geospatial tool is associated with four major issues which include institutional, social, economic and infrastructural challenges. However, researchers should be encouraged to explore this application in order to detect future trend (forecasting) and make researches more globally acceptable

    Field-tuned quantum tunneling in a supramolecule dimer [Mn4]2[Mn_4]_2

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    Field-tuned quantum tunneling in two single-molecule magnets coupled antiferromagnetically and formed a supramolecule dimer is studied. We obtain step-like magnetization curves by means of the numerically exact solution of the time-dependent Schr\H{o}dinger equation. The steps in magnetization curves show the phenomenon of quantum resonant tunneling quantitatively. The effects of the sweeping rate of applied field is discussed. These results obtained from quantum dynamical evolution well agree with the recent experiment[W.Wernsdorfer et al. Nature 416(2002)406].Comment: 11 pages, 4 figures, 2 tables. Submited to Phys. Rev.

    Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome

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    Purpose Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype. Methods Three unrelated probands with a diagnosis of ARS were recruited for this study. Genomic DNA was isolated from the peripheral blood of the probands and their family members. Polymerase chain reaction and Sanger sequencing were used for the analysis of coding exons and the flanking intronic regions of the PITX2 gene. Bioinformatics tools and database (VarSome, Provean, and MutationTaster, SIFT, PolyPhen-2, and HOPE) were evaluated to explore missense variants. Results We identified novel heterozygous variations in the PITX2 gene that segregated with the ARS phenotype within the families. The variant NM_153426.2(PITX2):c.226G > T or p.(Ala76Ser) and the mutation NM_153426.2(PITX2):c.455G > A or p.(Cys152Tyr) were identified in two Pakistani pedigrees, and the mutation NM_153426.2(PITX2):c.242_265del or p.(Lys81_Gln88del), segregated in a Mexican family. Conclusion Our study extends the spectrum of PITX2 mutations in individuals with ARS, enabling an improved diagnosis of this rare but serious syndrome

    Hormone and Adpokine Alterations across Eleven Weeks of Training in Division I Collegiate Throwers: an Exploratory Study

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    Conceptually, it is important to understand the underlying physiological mechanisms of any training program model. This understanding aids the coach/sport scientist in making better choices in manipulating variables in formulating the training model. These underlying mechanisms can be associated with training variable manipulation and fatigue management aspects as well as the overall health of the athlete. Hormone and cytokine concentrations can be linked to alterations resulting from the manipulation of training variables and to subsequent alterations in performance (Haff et al., 2008; Ishigaki et al., 2005; Jurimae et al., 2010; Stone et al., 2007). For example, alterations in the testosterone: cortisol ratio (T:C) has been associated with alterations in training volume as well as physiological aspects such as lean body mass (LBM), fat content and strength/power performance (Haff et al., 2008; Häkkinen, 1989; Stone et al., 2007). Although cytokine production is part of the adaptive process, markedly increased/excessive cytokine production has been related poor fatigue management and over training (Angeli et al., 2004; Jurimae et al., 2010; Smith, 2000). The present study followed NCAA division 1 (D-1) collegiate throwers over a period of an 11 week fall semester preparation-phase block form of periodized training. Volume and intensity alterations and their effects on physiological variables (e.g. neuromuscular, hormonal, cytokine) are a key component in understanding the effects of a training process. Alterations in these physiological variables were tracked over time in Division-1 collegiate throwers
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