46 research outputs found

    Methodological Issues in Evaluating Workplace Interventions to Reduce Work-related Musculoskeletal Disorders Through Mechanical Exposure Reduction

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    Researchers of work-related musculoskeletal disorders are increasingly asked about the evidentiary base for mechanical exposure reductions. Mixed messages can arise from the different disciplinary cultures of evidence, and these mixed messages make different sets of findings incommensurate. Interventions also operate at different levels within workplaces and result in different intensities of mechanical exposure reduction. Heterogeneity in reporting intervention processes and in measuring relevant outcomes makes the synthesis of research reports difficult. As a means of synthesizing the current understanding of measures, this paper describes a set of intervention and observation nodes for which relevant workplace indicators prior to, during, and after mechanical exposure reduction can provide useful information. On the basis of this path of impacts from exposure reduction, an approach to the evaluation of multilevel ergonomic interventions is described that can assist fellow researchers in producing evidence relevant to the challenges faced by workplace parties and policy makers

    A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

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    Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.This investigation was supported by the Instituto de Salud Carlos III and the Fundacion Vasca de Innovacion e Investigacion Sanitarias (funds to ES)

    Influenza activity in Cambodia during 2006-2008

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    <p>Abstract</p> <p>Background</p> <p>There is little information about influenza disease among the Cambodian population. To better understand the dynamics of influenza in Cambodia, the Cambodian National Influenza Center (NIC) was established in August 2006. To continuously monitor influenza activity, a hospital based sentinel surveillance system for ILI (influenza like illness) with a weekly reporting and sampling scheme was established in five sites in 2006. In addition, hospital based surveillance of acute lower respiratory infection (ALRI) cases was established in 2 sites.</p> <p>Methods</p> <p>The sentinel sites collect weekly epidemiological data on ILI patients fulfilling the case definition, and take naso-pharyngeal specimens from a defined number of cases per week. The samples are tested in the Virology Unit at the Institut Pasteur in Phnom Penh. From each sample viral RNA was extracted and amplified by a multiplex RT-PCR detecting simultaneously influenza A and influenza B virus. Influenza A viruses were then subtyped and analyzed by hemagglutination inhibition assay. Samples collected by the ALRI system were tested with the same approach.</p> <p>Results</p> <p>From 2006 to 2008, influenza circulation was observed mainly from June to December, with a clear seasonal peak in October shown in the data from 2008.</p> <p>Conclusion</p> <p>Influenza activity in Cambodia occurred during the rainy season, from June to December, and ended before the cool season (extending usually from December to February). Although Cambodia is a tropical country geographically located in the northern hemisphere, influenza activity has a southern hemisphere transmission pattern. Together with the antigenic analysis of the circulating strains, it is now possible to give better influenza vaccination recommendation for Cambodia.</p

    Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor

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    Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. TRKA, a receptor tyrosine kinase cloned from a human colon cancer was later found to be expressed in the nervous system and phosphorylated in response to NGF. Somatic rearrangement(s) of the TRKA gene (also designated NTRK1) are responsible for formation of some oncogenes. Genetic defects in TRKA are responsible for a human disorder, congenital insensitivity to pain with anhidrosis (CIPA). We report here isolation and characterization of the TRKA gene which spans at least 23 kb and is split into 17 exons. Exon sizes range from 18 to 394 bp and intron sizes range from 170 bp to at least 3.3 kb. Sizes and boundaries of the exons were determined, and all the splice donor and acceptor sites conformed to the GT/AG rule. Approximately 1.2 kb of the 5\u27-flanking regions was sequenced, and putative regulatory elements were identified. These results will be useful for studies on the developmental and biological regulation of the TRKA gene and for further characterization of mutations in CIPA patients as well as elucidation of mechanisms responsible for rearrangement(s) observed in human tumors

    The utility of fetal fibronectin in asymptomatic singleton and twin pregnancies with a cervical length \u3c= 10 mm

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    OBJECTIVE: To examine the utility of fetal fibronectin (fFN) for predicting spontaneous preterm birth (PTB) in asymptomatic women with a cervical length (CL) <10 mm compared to those with a CL 11–25 mm. METHODS: Data was collected on all women with non-anomalous singleton and twin gestations who underwent transvaginal CL at a single institution between 2009 and 2012. Women with an incidental short cervix (CL ≤25 mm) between 22–32 weeks who had an fFN result within 7 days thereafter were included. Indicated preterm deliveries at <14 days of fFN, women who underwent cerclage placement, and terminations of pregnancy were excluded. The primary outcome was spontaneous PTB within 7 and 14 days of the fFN. Sensitivity, specificity, and positive (PPV) and negative predictive value (NPV) of fFN for a CL <10 mm was calculated for singletons and twins and compared to those with a CL 11–25 mm. RESULTS: Of the 213 women included, 117 (54.9%) were singletons and 96 (45%) were twins. Baseline characteristics were similar between those with a CL <10 mm and with a CL 11–25 mm in both singletons and twins. The NPV of fFN for delivery within 7 days in singletons and twins with a CL <10 mm was 100%, similar to those with a CL 11–25mm (93–100%). The NPV of fFN for delivery within 14 days in singletons and twins with a CL <10 mm remained high (87.5–100%) when compared to those with a CL 11–25mm (93–100%). The PPV of fFN for delivery within 7 and 14 days in both singletons and twins with a CL<10 mm was low (10–25%) and similar to those with a CL 11–25 mm (7.1–24.4%). CONCLUSIONS: The NPV of fFN in asymptomatic singleton and twin pregnancies with a CL <10 mm is high and comparable to the NPV of fFN in women with a longer CL. Routine fFN collection in this select population should be considered as it may avoid unnecessary and costly admissions, as well as assist with timing of antenatal corticosteroids

    The Importance of Motherhood among Women in the Contemporary United States

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    We contribute to feminist and gender scholarship on cultural notions of motherhood by analyzing the importance of motherhood among mothers and non-mothers. Using a national probability sample (N = 2,519) of U.S. women ages 25-45, we find a continuous distribution of scores measuring perceptions of the importance of motherhood among both groups. Employing OLS multiple regression, we examine why some women place more importance on motherhood, focusing on interests that could compete with valuing motherhood (e.g., education, work success, leisure), and controlling for characteristics associated with becoming a mother. Contrary to cultural schemas that view mother and worker identities as competing, we find that education level is not associated with the importance of motherhood for either group and that valuing work success is positively associated with valuing motherhood among mothers. Consistent with feminist explanations for delayed fertility, valuing leisure is negatively associated with valuing motherhood for non-mothers
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