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https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#1
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28543798/mucosal-melanoma-clinical-histological-and-c-kit-gene-mutational-profile-of-86-french-cases
#2
E Cinotti, J Chevallier, B Labeille, F Cambazard, L Thomas, B Balme, M T Leccia, M D'Incan, P Vercherin, C Douchet, P Rubegni, J L Perrot
BACKGROUND: Mucosal melanomas are rare and highly aggressive tumors. Few studies evaluated mucosal melanomas of locations other than the head and neck region, and other than those of the Asian population. OBJECTIVES: The objective of this study was to analyze the clinical and histological features, as well as the mutational status of c-kit and b-raf gene of mucosal melanoma in any localization in a French series. METHODS: We investigated clinical (sex, age, performance status, survival, treatment of the patients and lack of pigmentation of the tumors) and histopathologic features (ulceration, Breslow's index, mitotic rate), as well as the mutational status of c-kit and b-raf of 86 mucosal melanomas diagnosed in 15 years in four French University Hospitals...
May 22, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28516858/southern-women-at-risk-narratives-of-familial-and-social-hiv-risk-in-justice-involved-u-s-women-in-alabama
#3
Courtenay Sprague, Bharathi Radhakrishnan, Shelley Brown, Theresa Sommers, David W Pantalone
Justice-involved HIV-positive women, particularly those in the U.S. South, are a hidden, understudied population. Little work has explored their psychosocial histories in relation to their HIV risk. We conducted a content analysis of their life history narratives from childhood to present, via in-depth interviews with 24 such women in 2 Alabama cities. Findings included the following: (a) In childhood/adolescence, consistent HIV risk factors were present, beginning with early sexual abuse and induction into alcohol/substance use; (b) By early adulthood, HIV and incarceration risks were compounded in social settings, through cyclical substance use, revictimization, and reoffending;...
May 17, 2017: Violence and Victims
https://www.readbyqxmd.com/read/28503459/changes-in-resting-calcaneal-stance-position-angle-following-insole-fitting-in-children-with-flexible-flatfoot
#4
Eui Chang Lee, Myeong Ok Kim, Hyo Sang Kim, Sang Eun Hong
OBJECTIVE: To clarify the relationship of the initial radiologic and a biomechanical parameter at first clinical visit, and define the effectiveness of modified insole, following insole fitting in children with flexible flatfoot. METHODS: Children aged less than 13 years with flexible flatfoot were enrolled. The total number of subjects was 66 (33 boys, 33 girls). The subjects were divided into 5 subgroups, based on age: 1-2, 3-4, 5-6, 7-9, and 10-12 years. The mean time period between the initial & final examination for their resting calcaneal stance position angle (RCSPA) was 24 months...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28502505/lysosomal-acid-lipase-deficiency-a-hidden-disease-among-cohorts-of-familial-hypercholesterolemia
#5
Joana Rita Chora, Ana Catarina Alves, Ana Margarida Medeiros, Cibelle Mariano, Goreti Lobarinhas, António Guerra, Helena Mansilha, Helena Cortez-Pinto, Mafalda Bourbon
BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. OBJECTIVE: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. METHODS: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258)...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28497080/applying-data-mining-techniques-to-determine-important-parameters-in-chronic-kidney-disease-and-the-relations-of-these-parameters-to-each-other
#6
Shahram Tahmasebian, Marjan Ghazisaeedi, Mostafa Langarizadeh, Mehrshad Mokhtaran, Mitra Mahdavi-Mazdeh, Parisa Javadian
Introduction: Chronic kidney disease (CKD) includes a wide range of pathophysiological processes which will be observed along with abnormal function of kidneys and progressive decrease in glomerular filtration rate (GFR). According to the definition decreasing GFR must have been present for at least three months. CKD will eventually result in end-stage kidney disease. In this process different factors play role and finding the relations between effective parameters in this regard can help to prevent or slow progression of this disease...
2017: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/28496955/estimating-the-size-and-age-gender-distribution-of-women-s-active-social-networks
#7
Maryam Zamanian, Mohammad Reza Baneshi, Ali Akbar Haghdoost, Tayebeh Mokhtari-Sorkhani, Fatemeh Amiri, Farzaneh Zolala
BACKGROUND: Network Scale-up (NSU) method is an indirect method for the estimation of hidden behaviors. In NSU, respondents are asked about the number of members they know from a subpopulation of interest (e.g., injecting drug user) and assume that the prevalence of risky behavior in the networks of a random sample of respondents is similar to that of the population. However, first, we need to identify the total number of people each respondent knows [the social network size (C)]; Moreover, certain risky behaviors happen in particular age and gender groups...
July 2016: Addiction & Health
https://www.readbyqxmd.com/read/28493285/hidden-floral-adaptation-to-nocturnal-moths-in-an-apparently-bee-pollinated-flower-adenophora-triphylla-var-japonica-campanulaceae
#8
Daichi Funamoto, Kazuharu Ohashi
• The discrepancy between observed flower visitors and those predicted based on floral phenotype has often cast doubt on the pollination syndrome concept. Here we show that this paradox may be alleviated by gaining a better knowledge of the contributions of different flower visitors to pollination and the effects of floral traits that cannot be readily perceived by humans in Adenophora triphylla var. japonica. The blue, bell-shaped and pendent flowers of A. triphylla appear to fit a bee pollination syndrome...
May 10, 2017: Plant Biology
https://www.readbyqxmd.com/read/28487087/recurrent-respiratory-tract-infections-rrti-in-the-elderly-a-late-onset-mild-immunodeficiency
#9
Esther van de Vosse, Monique M van Ostaijen-Ten Dam, René Vermaire, Els M Verhard, Jacqueline L Waaijer, Jaap A Bakker, Sandra T Bernards, Hermann Eibel, Maarten J van Tol, Jaap T van Dissel, Margje H Haverkamp
Elderly with late-onset recurrent respiratory tract infections (RRTI) often have specific anti-polysaccharide antibody deficiency (SPAD). We hypothesized that late-onset RRTI is caused by mild immunodeficiencies, such as SPAD, that remain hidden through adult life. We analyzed seventeen elderly RRTI patients and matched controls. We determined lymphocyte subsets, expression of BAFF receptors, serum immunoglobulins, complement pathways, Pneumovax-23 vaccination response and genetic variations in BAFFR and MBL2...
May 6, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28484482/investigation-of-the-genetic-diversity-and-quantitative-trait-loci-accounting-for-important-agronomic-and-seed-quality-traits-in-brassica-carinata
#10
Wenshan Zhang, Dandan Hu, Rosy Raman, Shaomin Guo, Zili Wei, Xueqi Shen, Jinling Meng, Harsh Raman, Jun Zou
Brassica carinata (BBCC) is an allotetraploid in Brassicas with unique alleles for agronomic traits and has huge potential as source for biodiesel production. To investigate the genome-wide molecular diversity, population structure and linkage disequilibrium (LD) pattern in this species, we genotyped a panel of 81 accessions of B. carinata with genotyping by sequencing approach DArTseq, generating a total of 54,510 polymorphic markers. Two subpopulations were exhibited in the B. carinata accessions. The average distance of LD decay (r(2) = 0...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28482128/hidden-markov-models-for-extended-batch-data
#11
Laura L E Cowen, Panagiotis Besbeas, Byron J T Morgan, Carl J Schwarz
Batch marking provides an important and efficient way to estimate the survival probabilities and population sizes of wild animals. It is particularly useful when dealing with animals that are difficult to mark individually. For the first time, we provide the likelihood for extended batch-marking experiments. It is often the case that samples contain individuals that remain unmarked, due to time and other constraints, and this information has not previously been analyzed. We provide ways of modeling such information, including an open N-mixture approach...
May 8, 2017: Biometrics
https://www.readbyqxmd.com/read/28469144/a-deep-intronic-clrn1-ush3a-founder-mutation-generates-an-aberrant-exon-and-underlies-severe-usher-syndrome-on-the-arabian-peninsula
#12
Arif O Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J Bolz
Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes - to date a largely unexplored possibility. In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation. Genome-wide linkage analysis revealed two small candidate regions on chromosome 3, one containing the USH3A gene CLRN1, which has never been associated with Usher syndrome in Saudi Arabia...
May 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28465818/the-effect-of-hepatitis-c-virus-infection-on-cardiovascular-complications-in-end-stage-kidney-disease-patients-on-regular-hemodialysis
#13
Mohamed Salah Eldin Zaki
INTRODUCTION: Cardiovascular complications are the most important cause of mortality in patients with ESKD, such as coronary artery disease, left ventricular hypertrophy, heart failure and arrhythmia. Other well-known risk factors, such as diabetes mellitus, hypertension and dyslipidemia are prevalent in ESKD, yet they are not sufficient enough to explain the high prevalence of cardiovascular mortality, hence searching for other hidden risk factors to explain this high prevalence is of an utmost importance...
February 2017: Electronic Physician
https://www.readbyqxmd.com/read/28462208/diagnosis-of-the-ocd-patients-using-drawing-features-of-the-bender-gestalt-shapes
#14
R Boostani, F Asadi, N Mohammadi
BACKGROUND: Since psychological tests such as questionnaire or drawing tests are almost qualitative, their results carry a degree of uncertainty and sometimes subjectivity. The deficiency of all drawing tests is that the assessment is carried out after drawing the objects and lots of information such as pen angle, speed, curvature and pressure are missed through the test. In other words, the psychologists cannot assess their patients while running the tests. One of the famous drawing tests to measure the degree of Obsession Compulsion Disorder (OCD) is the Bender Gestalt, though its reliability is not promising...
March 2017: Journal of Biomedical Physics & Engineering
https://www.readbyqxmd.com/read/28423839/a-semantic-framework-for-logical-cross-validation-evaluation-and-impact-analyses-of-population-health-interventions
#15
Arash Shaban-Nejad, Anya Okhmatovskaia, Eun Kyong Shin, Robert L Davis, Brandi E Franklin, David L Buckeridge
Most chronic diseases are a result of a complex web of causative and correlated factors. As a result, effective public health or clinical interventions that intend to generate a sustainable change in these diseases most often use a combination of strategies or programs. To optimize comparative effectiveness evaluations and select the most efficient intervention(s), stakeholders (i.e. public health institutions, policy-makers and advocacy groups, practitioners, insurers, clinicians, and researchers) need access to reliable assessment methods...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28423795/multivariate-and-longitudinal-health-system-indicators
#16
Guido Antonio Powell, Yu T Luo, Aman Verma, David A Stephens, David L Buckeridge
Within population health information systems, indicators are commonly presented as independent, cross-sectional measures, neglecting the multivariate, longitudinal nature of disease progression, health care use, and profiles of performance. We use administrative claims data of Montreal, Canada to identify patterns across indicators and over time in chronic obstructive pulmonary disease patients. We first cluster regions based on four health service indicators. Our second approach discovers individual-level trajectories based on a hidden Markov model using the same four indicators...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28418314/population-genomics-of-legionella-longbeachae-and-hidden-complexities-of-infection-source-attribution
#17
Rodrigo Bacigalupe, Diane Lindsay, Giles Edwards, J Ross Fitzgerald
Legionella longbeachae is the primary cause of legionellosis in Australasia and Southeast Asia and an emerging pathogen in Europe and the United States; however, our understanding of the population diversity of L. longbeachae from patient and environmental sources is limited. We analyzed the genomes of 64 L. longbeachae isolates, of which 29 were from a cluster of legionellosis cases linked to commercial growing media in Scotland in 2013 and 35 were non-outbreak-associated isolates from Scotland and other countries...
May 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28404504/burden-of-asymptomatic-malaria-among-a-tribal-population-in-a-forested-village-of-central-india-a%C3%A2-hidden-challenge-for-malaria-control-in-india
#18
M K Chourasia, K Raghavendra, R M Bhatt, D K Swain, N Valecha, I Kleinschmidt
OBJECTIVE: Chhattisgarh in India is a malaria-endemic state with seven southern districts that contributes approximately 50-60% of the reported malaria cases in the state every year. The problem is further complicated due to asymptomatic malaria cases which are largely responsible for persistent transmission. This study was undertaken in one of the forested villages of the Keshkal subdistrict in Kondagaon district to ascertain the proportion of the population harbouring subclinical malarial infections...
March 21, 2017: Public Health
https://www.readbyqxmd.com/read/28369632/differential-expression-analysis-for-rnaseq-using-poisson-mixed-models
#19
Shiquan Sun, Michelle Hood, Laura Scott, Qinke Peng, Sayan Mukherjee, Jenny Tung, Xiang Zhou
Identifying differentially expressed (DE) genes from RNA sequencing (RNAseq) studies is among the most common analyses in genomics. However, RNAseq DE analysis presents several statistical and computational challenges, including over-dispersed read counts and, in some settings, sample non-independence. Previous count-based methods rely on simple hierarchical Poisson models (e.g. negative binomial) to model independent over-dispersion, but do not account for sample non-independence due to relatedness, population structure and/or hidden confounders...
March 29, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28369623/the-hidden-life-of-integrative-and-conjugative-elements
#20
François Delavat, Ryo Miyazaki, Nicolas Carraro, Nicolas Pradervand, Jan Roelof van der Meer
Integrative and conjugative elements (ICEs) are widespread mobile DNA that transmit both vertically, in a host-integrated state, and horizontally, through excision and transfer to new recipients. Different families of ICEs have been discovered with more or less restricted host ranges, which operate by similar mechanisms but differ in regulatory networks, evolutionary origin and the types of variable genes they contribute to the host. Based on reviewing recent experimental data, we propose a general model of ICE life style that explains the transition between vertical and horizontal transmission as a result of a bistable decision in the ICE-host partnership...
March 25, 2017: FEMS Microbiology Reviews
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