781 research outputs found

    Ataxia-telangiectasia and other Primary Immunodeficiency Diseases

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    Stability of Weak Confined Wake Behind a Cylinder in Fully Developed Turbulent Channel Flow

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    AbstractThe motivation for the study of instability of turbulent wake flow in a confined turbulent channel was multi-fold. First, the instability of confined wake flows has not been studied much. Second, confined wakes are found to retain their mean velocity profile for a considerable downstream distance. Third, wakes have two points of inflection, one each on either side of the centre line. The basic aim of the present study was to investigate the correlation between the turbulence in the wake region and the inflection points in the wake region using stability theory. The wake behind a cylinder of diameter d in a turbulent channel with half width h, is a weak confined wake when d/h ≈ 0.2. Thus, d/h=0.2 was chosen for the present work. Experimental results are obtained by introducing organized disturbances in the wake and tracking these downstream. Theoretical results were obtained by solving the Orr-Sommerfeld equation by numerical methods

    Coping, quality of life, and hope in adults with primary antibody deficiencies

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    BACKGROUND: Living with a chronic disease, such as primary antibody deficiency, will often have consequences for quality of life. Previous quality-of-life studies in primary antibody deficiency patients have been limited to different treatment methods. We wanted to study how adults with primary antibody deficiencies manage their conditions and to identify factors that are conducive to coping, good quality of life and hope. METHODS: Questionnaires were sent to all patients ≥20 years of age with primary antibody deficiencies who were served by Rikshospitalet University Hospital. The questionnaires consisted of several standardized scales: Ferrans and Powers Quality of Life Index (QLI), Short Form-36 (SF-36), Jalowiec Coping Scale (JCS), Nowotny Hope Scale (NHS), and one scale we devised with questions about resources and pressures in the past. Of a total of 91, 55 patients (aged 23–76 years) answered the questionnaires. The questionnaire study were supplemented with selected interviews of ten extreme cases, five with low and five with high quality of life scores. RESULTS: Among the 55 patients, low quality of life scores were related to unemployment, infections in more than four organs, more than two additional diseases, or more than two specific occurrences of stress in the last 2–3 months. Persons with selective IgA deficiency had significantly higher QLI scores than those with other antibody deficiencies. An optimistic coping style was most frequent used, and hope values were moderately high. Based on the interviews, the patients could be divided into three groups: 1) low QLI scores, low hope values, and reduced coping, 2) low QLI scores, moderate hope values, and good coping, and 3) high QLI scores, moderate to strong hope values, and good coping. Coping was related to the patients' sense of closeness and competence. CONCLUSION: Low quality of life scores in adults with primary antibody deficiencies were linked to unemployment and disease-related strains. Closeness and competence were preconditions for coping, quality of life and hope. The results are valuable in planning care for this patient group

    Mutations in rpoB and katG genes of multidrug resistant mycobacterium tuberculosis undetectable using genotyping diagnostic methods

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    Introduction: Tuberculosis remains the leading causes of death worldwide with frequencies of mutations in rifampicin and isoniazid resistant Mycobacterium tuberculosis isolates varying according to geographical location. There is limited information in Zimbabwe on specific antibiotic resistance gene mutation patterns in MTB and hence, increased rate of discordant results and mortality due to inappropriate antibiotic prescriptions. The rpoB and katG genes molecular markers are used for detecting rifampicin and isoniazid resistance respectively. Some mutations within these gene sequences are associated with drug resistance as they directly alter gene function. The objectives of this research was to determine the drug resistance profiles in M. tuberculosis isolates that are phenotypically resistant but not detected by the GeneXpert and MTBDRplus kit and also to detect mutations in the rpoB and katG genes which are not detected by the Hain Genotype MTBDRplus kit and GeneXpert diagnosis.Methods: PCR was used for the amplification of the rpoB and katG genes from MTB isolates collected from human clinical samples between 2008 and 2015. The genes were sequenced and compared to the wild type MTB H37Rv rpoB (accession number L27989) and kat G genes (KP46920), respectively. Sequence analysis results were compared to genotyping results obtained from molecular assays and culture results of all isolates.Results: The most frequent mutation responsible for rifampicin resistance was (25/92) S531L that was detected by using all molecular assays. Some inconsistencies were observed between phenotypic and genotypic assay results for both katG and rpoB genes in 30 strains. For these, eight codons; G507S, T508A, L511V, del513-526, P520P, L524L, R528H, R529Q and S531F were novel mutations. In addition, the I572P/F, E562Q, P564S, and Q490Y mutations were identified as novel mutations outside the rifampicin resistance determining region. In katG gene, amino acid changes to threonine, asparagine and isoleucine exhibited high degrees of polymorphism such as V473N, D311N, and L427I. The R463L (20/92) amino acid substitution was most common but was not associated with isoniazid resistance.Conclusion: These finding indicate that molecular assay kit diagnosis that is based on the rpoB and katG genes should be improved to cater for the genetic variations associated with the geographic specificity of the target genes and be able to detect most prevalent mutations in different areas.Keywords: Mutation, rpoB, katG, GeneXpert, hains genotype MTBDRplus, mycobacterium tuberculosis, sequencing, DNA and PC

    HIV among pregnant women in Moshi Tanzania: the role of sexual behavior, male partner characteristics and sexually transmitted infections

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    BACKGROUND: Women continue to be disproportionately affected by HIV in Tanzania, and factors contributing to this situation need to be identified. The objective of this study was to determine social, behavioral and biological risk factors of HIV infection among pregnant women in Moshi urban, Tanzania. In 2002 – 2004, consenting women (N = 2654), attending primary health clinics for routine antenatal care were interviewed, examined and biological samples collected for diagnosis of HIV and other sexually transmitted/reproductive tract infections. RESULTS: The prevalence of HIV was 6.9%. The risk for HIV was greater among women whose male partner; had other sexual partners (adjusted odds ratio [AOR], 15.11; 95% confidence interval [CI], 8.39–27.20), traveled frequently (AOR, 1.79; 95% CI, 1.22–2.65) or consumed alcohol daily (AOR, 1.68; 95% CI, 1.06–2.67). Other independent predictors of HIV were age, number of sex partners, recent migration, and presence of bacterial vaginosis, genital ulcer, active syphilis and herpes simplex virus type 2. CONCLUSION: Development of programs that actively involve men in HIV prevention is important in reducing transmission of HIV in this population. Further, interventions that focus on STI control, the mobile population, sexual risk behavior and responsible alcohol use are required

    Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

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    BACKGROUND: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia. OBJECTIVES: This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge. METHODS: A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs. RESULTS: The study’s recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance. CONCLUSIONS: By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide

    Prevalence of sexually transmitted infections among pregnant women with known HIV status in northern Tanzania

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    <p>Abstract</p> <p>Objectives</p> <p>To determine the prevalence of sexually transmitted infections (STIs) and other reproductive tract infections (RTIs) among pregnant women in Moshi, Tanzania and to compare the occurrence of STIs/RTIs among human immunodeficiency virus (HIV)-infected and uninfected women.</p> <p>Methods</p> <p>Pregnant women in their 3<sup>rd </sup>trimester (N = 2654) were recruited from two primary health care clinics between June 2002 and March 2004. They were interviewed, examined and genital and blood samples were collected for diagnosis of STIs/RTIs and HIV.</p> <p>Results</p> <p>The prevalence of HIV, active syphilis and herpes simplex virus – type 2 (HSV-2) were 6.9%, 0.9% and 33.6%, respectively, while 0.5% were positive for <it>N gonorrhoeae</it>, 5.0% for <it>T vaginalis </it>and 20.9% for bacterial vaginosis. Genital tract infections were more prevalent in HIV-seropositive than seronegative women, statistically significant for syphilis (3.3% vs 0.7%), HSV-2 (43.2% vs 32.0%), genital ulcers (4.4% vs 1.4%) and bacterial vaginosis (37.2% vs 19.6%). In comparison with published data, a declining trend for curable STIs/RTIs (syphilis, trichomoniasis and bacterial vaginosis) was noted.</p> <p>Conclusion</p> <p>Rates of STIs and RTIs are still high among pregnant women in Moshi. Where resources allow, routine screening and treatment of STIs/RTIs in the antenatal care setting should be offered. Higher STIs/RTIs in HIV-seropositive women supports the expansion of HIV-counseling and testing services to all centers offering antenatal care. After identification, STIs/RTIs need to be aggressively addressed in HIV-seropositive women, both at antenatal and antiretroviral therapy care clinics.</p

    Implementation of uniform information on fetal movement in a Norwegian population reduced delayed reporting of decreased fetal movement and stillbirths in primiparous women - a clinical quality improvement

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    Background. Delayed maternal reporting of decreased fetal movement (DFM) is associated with adverse pregnancy outcomes. Inconsistent information on fetal activity to women during the antenatal period may result in delayed reporting of DFM. We aimed to evaluate an intervention of implementation of uniform information on fetal activity to women during the antenatal period. Methods. In a prospective before-and-after study, singleton women presenting DFM in the third trimester across 14 hospitals in Norway were registered. Outcome measures were maternal behavior regarding reporting of DFM, concerns and stillbirth. In addition, cross-sectional studies of all women giving birth were undertaken to assess maternal concerns about fetal activity, and population-based data were obtained from the Medical Birth Registry Norway. Results. Pre- and post-intervention cohorts included 19 407 and 46 143 births with 1 215 and 3 038 women with DFM respectively. Among primiparous women with DFM, a reduction in delayed reporting of DFM (48 hrs) OR 0.61 (95% CI 0.47-0.81) and stillbirths OR 0.36 (95% CI 0.19-0.69) was shown in the post-intervention period. No difference was shown in rates of consultations for DFM or maternal concerns. Stillbirth rates and maternal behavior among women who were of non-Western origin, smokers, overweight or >34 years old were unchanged. Conclusions. Uniform information on fetal activity provided to pregnant women was associated with a reduction in the number of primiparous women who delayed reporting of DFM and a reduction of the stillbirth rates for primiparous women reporting DFM. The information did not appear to increase maternal concerns or rate of consultation. Due to different imperfections in different clinical settings, further studies in other populations replicating these findings are required
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