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Michelle N Clements, Christl A Donnelly, Alan Fenwick, Narcis B Kabatereine, Sarah C L Knowles, Aboulaye Meité, Eliézer K N'Goran, Yolisa Nalule, Sarah Nogaro, Anna E Phillips, Edridah Muheki Tukahebwa, Fiona M Fleming
BACKGROUND: The development of new diagnostics is an important tool in the fight against disease. Latent Class Analysis (LCA) is used to estimate the sensitivity and specificity of tests in the absence of a gold standard. The main field diagnostic for Schistosoma mansoni infection, Kato-Katz (KK), is not very sensitive at low infection intensities. A point-of-care circulating cathodic antigen (CCA) test has been shown to be more sensitive than KK. However, CCA can return an ambiguous 'trace' result between 'positive' and 'negative', and much debate has focused on interpretation of traces results...
December 8, 2017: PLoS Neglected Tropical Diseases
A Vincent, A AlAli, H MacDonald, C VandenHoven, E Héon
PurposeTo describe the ocular and systemic phenotype in IQCB1-related disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed IQCB1-related disease underwent ophthalmological examination including best-corrected visual acuity (BCVA) measurement, fundus evaluation, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Systemic evaluation including abdominal ultrasound was performed in all cases.ResultsBCVA ranged from perception of light (Case-2; 1 year) to 20/125 (Case-1; 9 years)...
December 8, 2017: Eye
J Burboa, M Bahamonde, M Inostroza, P Lillo, M Barahona, M Palet, J Hinzpeter
Anterior Cruciate Ligament (ACL) injury is an important cause of days lost in athletes. Most ACL injuries are non-contact and are associated with biomechanical risk factors that increase tension in the ACL: increased knee valgus (KV) and hip flexion (HF) and decreased flexion of knee (KF). Muscle around the knee contributes to knee stability, so fatigue produced by exercise could alter knee balance, increasing LCA tension. The aim of the study is to determine the angular behavior before and after a physical load for CF, RR and RV in children born in 2002-2003...
May 2017: Acta Ortopédica Mexicana
Jennifer Lorvick, Megan Comfort, Alex H Kral, Barrot H Lambdin
Among people who use illegal drugs, engagement with the criminal justice (CJ) system often involves an ongoing, intermittent series of arrests, incarcerations, and periods of community supervision. The potential associations between the lifetime accumulation of CJ involvement and social and health outcomes is largely unexplored. In a cross-sectional sample of women who use crack, heroin, and/ or methamphetamine recruited from communities in Oakland, CA (N = 624), we developed an approach to characterize CJ accumulation...
December 6, 2017: Journal of Urban Health: Bulletin of the New York Academy of Medicine
Omar M Aboumarzouk, Mohamed Ismail, David Breen, Marco Van Strijen, Julein Garnon, Brunolf Lagerveld, Tommy Nielsen, Francis Keeley
BACKGROUND: Cryoablation has emerged as an alternative to the more invasive partial nephrectomy for small renal masses. The approach can be carried out by two techniques, either laparoscopic (LCA) or percutaneous with CT guidance (PCA). We aimed to compare between the two procedures. MATERIAL & METHODS: A systematic review and meta-analysis was conducted including studies comparing the two techniques. Outcomes included incomplete ablation, late local recurrence, cancer specific survival, procedure time, transfusion rates, hospital stay, and complications...
December 6, 2017: Journal of Endourology
Daniel A Sasson, Joseph F Ryan
BACKGROUND: Although most extant animals have separate sexes, simultaneous hermaphrodites can be found in lineages throughout the animal kingdom. However, the sexual modes of key ancestral nodes including the last common ancestor (LCA) of all animals remain unclear. Without these data, it is difficult to infer the reproductive-state transitions that occurred early in animal evolution, and thus a broad understanding of the evolution of animal reproduction remains elusive. In this study, we use a composite phylogeny from four previously published studies, two alternative topologies (ctenophores or sponges as sister to the rest of animals), and multiple phylogenetic approaches to conduct the most extensive analysis to date of the evolution of animal sexual modes...
December 6, 2017: BMC Evolutionary Biology
Bharadhwaj Ravindhran, Clement Prakash, Sridar Govindharaj, Noor Mohammed Shawnaz Bahnou, B Pavithra
Diffuse Large B-Cell Lymphoma (DLBCL) is the most common histological subtype of Non-Hodgkin's Lymphoma (NHL). Primary retroperitoneal DLBCL is uncommon and has seldom been reported. Extrinsic compression of the duodenum due to lesions originating from the retroperitoneum is also rare. We present a case of a 39-year-old man who presented with inability to tolerate oral intake, abdominal pain, an upper abdominal mass and postprandial bilious vomiting caused by a large DLBCL arising from the retroperitoneum causing extrinsic compression of the duodenum...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
Rakesh K Raghupathy, Xun Zhang, Fei Liu, Reem H Alhasani, Lincoln Biswas, Saeed Akhtar, Luyuan Pan, Cecilia B Moens, Wenchang Li, Mugen Liu, Breandan N Kennedy, Xinhua Shu
Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy. RPGRIP1 interacts with other retinal disease-causing proteins and has been proposed to have a role in ciliary protein transport; however, its function remains elusive. Here, we describe a new zebrafish model carrying a nonsense mutation in the rpgrip1 gene. Rpgrip1homozygous mutants do not form rod outer segments and display mislocalization of rhodopsin, suggesting a role for RPGRIP1 in rhodopsin-bearing vesicle trafficking...
December 4, 2017: Scientific Reports
Xuemin Zheng, Shichao Zhu, Zhixing Zhou, Wei Liu, Weiren Xu
The aim of the study is to investigate the protective effects of TY501 against LCA-induced cholestasis in mice and to explore the potential mechanisms. It was demonstrated that TY501(5, 15 or 45 mg/kg, i.g.) can markedly reduced the level of ALT, AST and ALP which increased by LCA treatment. Meanwhile, TY501 also lowered total bile acids, total bilirubin and total cholesterol levels in serum. Furthermore, TY501 can protect HepG2 cell cultures from LCA-induced cytotoxicity. RT-PCR and Western Blot analysis showed that TY501 recovered the expression of BSEP, MRP2 and NTCP which were down-regulated by LCA...
December 4, 2017: Drug Research
Romain Luscan, Sabrina Mechaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Sabine Defoort-Dellhemmes, Natalie Loundon, Isabelle Audo, Sophie Bonnin, Jean-François LeGargasson, Julien Dumont, Nicolas Goudin, Meriem Garfa-Traoré, Marc Bras, Aurore Pouliet, Bettina Bessières, Nathalie Boddaert, José-Alain Sahel, Stanislas Lyonnet, Josseline Kaplan, Nicholas J Cowan, Jean-Michel Rozet, Sandrine Marlin, Isabelle Perrault
Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the β-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αβ-heterodimer, consistent with a role in maintaining MT stability...
November 22, 2017: American Journal of Human Genetics
Saber Imani, Jingliang Cheng, Abdolkarim Mobasher-Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab-Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu
Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus...
November 29, 2017: Journal of Cellular and Molecular Medicine
Fadi Nasser, Nicole Weisschuh, Pietro Maffei, Gabriella Milan, Corina Heller, Eberhart Zrenner, Susanne Kohl, Laura Kuehlewein
PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination...
November 30, 2017: Acta Ophthalmologica
Steffen Barra, Cornelia Bessler, Markus A Landolt, Marcel Aebi
Juveniles who sexually offended (JSOs) are differentially burdened with adverse childhood experiences (ACEs). The present study used Latent Class Analysis (LCA) to derive subtypes of JSOs according to their patterns of 10 different ACEs. An extensive file analysis of 322 male JSOs ( M = 14.14, SD = 1.94) revealed five subtypes with (a) multiple (9.0%), (b) mainly family related (17.1%), (c) mainly peer related (21.7%), (d) mainly neglectful (18.6%), and (e) little/no (33.5%) ACEs. Differences among ACE subtypes with regard to several offense and victim characteristics (e...
March 1, 2017: Sexual Abuse: a Journal of Research and Treatment
C Henrique Alves, Jan Wijnholds
Mutations in the CRB1 gene account for around 10,000 persons with Leber congenital amaurosis (LCA) and 70,000 persons with retinitis pigmentosa (RP) worldwide. Therefore, the CRB1 gene is a key target in the fight against blindness. A proof-of-concept for an adeno-associated virus (AAV)-mediated CRB2 gene augmentation therapy for CRB1-RP was recently described. Preclinical studies using animal models such as knockout or mutant mice are crucial to obtain such proof-of-concept. In this chapter we describe a technique to deliver AAV vectors, into the murine retinas, via the subretinal route...
2018: Methods in Molecular Biology
Giovanni De Feo, Carmen Ferrara, Alessio Finelli, Alberto Grosso
The main aim of this study was to perform a Life Cycle Assessment (LCA) study as well as an economic evaluation of the recovery of recyclable materials in a municipal solid waste management system. If citizens separate erroneously waste fractions, they produce both environmental and economic damages. The environmental and economic evaluation was performed for the case study of Nola (34.349 inhabitants) in Southern Italy, with a kerbside system that assured a source-separation of 62% in 2014. The economic analysis provided a quantification of the economic benefits obtainable for the population in function of the achievable percentage of source-separation...
November 29, 2017: Environmental Technology
Fernanda B O Porto, Evan M Jones, Justin Branch, Zachry T Soens, Igor Mendes Maia, Isadora F G Sena, Shirley A M Sampaio, Renata T Simões, Rui Chen
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an accurate clinical diagnosis. Using our gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, we sequenced 43 unrelated probands with Brazilian ancestry...
November 29, 2017: Genes
Benjamin M Nash, Richard Symes, Himanshu Goel, Marcel E Dinger, Bruce Bennetts, John R Grigg, Robyn V Jamieson
Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c...
November 28, 2017: European Journal of Human Genetics: EJHG
Sunny H Shin, Shelby Elaine McDonald, David Conley
INTRODUCTION: Adverse childhood experiences (ACEs) have been strongly linked with subsequent substance use. The aim of this study was to investigate how different patterns of ACEs influence substance use in young adulthood. METHODS: Using a community sample of young individuals (N=336; ages 18-25), we performed latent class analyses (LCA) to identify homogenous groups of young people with similar patterns of ACEs. Exposure to ACEs incorporates 13 childhood adversities including childhood maltreatment, household dysfunction, and community violence...
November 13, 2017: Addictive Behaviors
Jennifer A Thompson, John N De Roach, Terri L McLaren, Hannah E Montgomery, Ling H Hoffmann, Isabella R Campbell, Fred K Chen, David A Mackey, Tina M Lamey
BACKGROUND: Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic heterogeneity poses great challenges for treatment, with personalized therapies anticipated to be the best treatment candidates. Unraveling the individual genetic etiology of disease is a prerequisite for personalized therapies, and could identify potential treatment candidates, inform patient management, and discriminate syndromic forms of disease...
November 2017: Molecular Genetics & Genomic Medicine
Jiawei Cai, Xiaofeng Wen, Weixing Lin, Zhen He, Dongyun Zhu, Jianping Qiu, Decan Kong, Xiaosheng He, Xiaowen He, Quan Shen, Xiaojian Wu, Ping Lan, Zhiyang Zhou, Jia Ke
OBJECTIVE: To demonstrate the clinical applicability of three-dimensional CT angiography by evaluating the anatomic features and variation of inferior mesenteric artery(IMA) and left colic artery(LCA) in order to provide reference to vessel ligation strategy in laparoscopic rectal cancer surgery. METHODS: Clinical and image data of 123 patients receiving abdominal multislice CT at The Sixth Affiliated Hospital from 2014 to 2015 were retrospectively analyzed. The images were 3D-reconstructed with computer 3D CT angiography and arterial enhancement phase images were chosen for analysis...
November 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
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