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Search Results: 1 - 10 of 223809 matches for " Nab R Roshyara "
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fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
Nab Raj Roshyara, Markus Scholz
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0097589
Abstract: Background Modern analysis of high-dimensional SNP data requires a number of biometrical and statistical methods such as pre-processing, analysis of population structure, association analysis and genotype imputation. Software used for these purposes often rely on specific and incompatible input and output data formats. Therefore extensive data management including multiple format conversions is necessary during analyses. Methods In order to support fast and efficient management and bio-statistical quality control of high-dimensional SNP data, we developed the publically available software fcGENE using C++ object-oriented programming language. This software simplifies and automates the use of different existing analysis packages, especially during the workflow of genotype imputations and corresponding analyses. Results fcGENE transforms SNP data and imputation results into different formats required for a large variety of analysis packages such as PLINK, SNPTEST, HAPLOVIEW, EIGENSOFT, GenABEL and tools used for genotype imputation such as MaCH, IMPUTE, BEAGLE and others. Data Management tasks like merging, splitting, extracting SNP and pedigree information can be performed. fcGENE also supports a number of bio-statistical quality control processes and quality based filtering processes at SNP- and sample-wise level. The tool also generates templates of commands required to run specific software packages, especially those required for genotype imputation. We demonstrate the functionality of fcGENE by example workflows of SNP data analyses and provide a comprehensive manual of commands, options and applications. Conclusions We have developed a user-friendly open-source software fcGENE, which comprehensively supports SNP data management, quality control and analysis workflows. Download statistics and corresponding feedbacks indicate that software is highly recognised and extensively applied by the scientific community.
Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays
Arnd Gross, Anke T?njes, Peter Kovacs, Krishna R Veeramah, Peter Ahnert, Nab R Roshyara, Christian Gieger, Ina-Maria Rueckert, Markus Loeffler, Mark Stoneking, Heinz-Erich Wichmann, John Novembre, Michael Stumvoll, Markus Scholz
BMC Genetics , 2011, DOI: 10.1186/1471-2156-12-67
Abstract: The degree of relatedness was significantly higher in the Sorbs. Principal components analysis revealed a west to east clustering of KORA individuals born in Germany, KORA individuals born in Poland or Czech Republic, Half-Sorbs (less than four Sorbian grandparents) and Full-Sorbs. The Sorbs cluster is nearest to the cluster of KORA individuals born in Poland. The number of rare SNPs is significantly higher in the Sorbs sample. FST between KORA and Sorbs is an order of magnitude higher than between different regions in Germany. Compared to the other populations, Sorbs show a higher proportion of individuals with runs of homozygosity between 2.5 Mb and 5 Mb. Linkage disequilibrium (LD) at longer range is also slightly increased but this has no effect on the power of association studies.Oversampling of families in the Sorbs sample causes detectable bias regarding higher FST values and higher LD but the effect is an order of magnitude smaller than the observed differences between KORA and Sorbs. Relatedness in the Sorbs also influenced the power of uncorrected association analyses.Sorbs show signs of genetic isolation which cannot be explained by over-sampling of relatives, but the effects are moderate in size. The Slavonic origin of the Sorbs is still genetically detectable.Regarding LD structure, a clear advantage for genome-wide association studies cannot be deduced. The significant amount of cryptic relatedness in the Sorbs sample results in inflated variances of Beta-estimators which should be considered in genetic association analyses.The Sorbs living in the Upper Lusatia region of Eastern Saxony are one of the few historic ethnic minorities in Germany. They are of Slavonic origin speaking a west Slavic language (Sorbian), and it is assumed that they have lived in ethnic isolation among the German majority during the past 1100 years [1]. Therefore, this population may be of special interest for genetic studies of complex traits.The value of isolated populations f
Casos Clínicos Infección por Nocardia asteroides en un paciente con lupus eritematoso sistémico Nocardia asteroides infection in a patient with Systemic Lupus Erythematosus
Paul Mc-Nab M,Carlos Fuentealba P,Francisco Ballesteros J,Daniel Pacheco R
Revista médica de Chile , 2000,
Abstract: Nocardia asteroides infection are unusually observed in sistemic Lupus erithematous (SLE) patients. They are generally associated to steroidal and immunosuppressive therapy. We report a 24 years old female with SLE diagnosed in 1994 who developed a severe preeclampsia in her first pregnancy requiring emergency caesarean section. Post partum acute renal failure and type IV lupus nephropathy were treated with hemodialysis, metilprednisolone, cyclophosphamide and prednisone. Three months later, while she was receving the fourth cyclophosphamide dose, she presented with a pleuro pneumonia and occipital abscess, both caused by Nocardia asteroides. She was treated with cotrimoxazole + cefixime and pleural decortication was required. Five months later, she developed Meningitis caused by Nocardia asteroides and hydrocephalus. She was treated with ceftriaxone, vancomycin, cotrimoxazole and ventricular shunting procedure. Two months later, a retroperitoneal abscess was diagosed and surgically drained but the patient died, due to a methicillin-resistant Staphylococcus aureus septicemia. (Rev Méd Chile 2000; 128: 526-8)
Asistencia ventricular mecánica como puente al trasplante en pacientes en shock cardiogénico: Experiencia preliminar en Chile con ABIOMED BVS 5000 Ventricular assist device as a bridge to transplant in patients with cardiogenic shock: Report of four patients
Pablo Castro G,Fernando Baraona R,Cristian Baeza P,Paul Mc-Nab M
Revista médica de Chile , 2006,
Abstract: Hospitalization and death due to heart failure and cardiogenic shock is frequent and currently is increasing among the adult population. Although cardiac transplantation is the most effective treatment in patients with end-stage heart failure, its availability is limited. While waiting for transplantation, some patients become refractory to treatment and deteriorate progressively. Secondary multi-organ damage could highly compromise the transplant success and also could contraindicate it. Mechanical ventricular assist devices allow reestablishing normal cardiac output and they have been used as a bridge to recovery and transplantation. We report four patients that underwent mechanical ventricular support using the ABIOMED BVS 5000 system as a bridge for transplantation. Two patients were connected to biventricular assistance; a third patient was connected to a left ventricular support and the fourth to a right ventricular support. Three were successfully transplanted and one died of refractory non-cardiogenic shock. There were no complications related to the support system, such as infection, hemorrhage or stroke. In our experience, the ABIOMED BVS 5000 was an effective strategy as a bridge to heart transplant in patients in cardiogenic shock (Rev Méd Chile 2006; 134: 1019-23).
Chronologie du Yémen 2004
Laurent Bonnefoy,Nab?l SUBAY‘
Chroniques Yéménites , 2004,
Abstract: Sources employées - Agences de presse : Associated Press (AP), Ajwa’ yaman lilkhadamat al-i‘lamiyya et Saba - Hebdomadaires d’opposition : al-Tajamu‘, al-Sahwa et al-Thawr - Hebdomadaire Anglophone : Yemen Times - Hebdomadaire indépendant : al-Nida’ - Quotidiens : al-Ayyam, al-Thawra Janvier 4 janvier : Signature de l’accord de renouvellement pour cinq ans pour l’exploitation pétrolière de la zone 18 Ma‘rib-Jawf entre le ministère yéménite du Pétrole et la société Hunt Oil yéméno-américaine....
Casos Clínicos Infección por Nocardia asteroides en un paciente con lupus eritematoso sistémico
Mc-Nab M,Paul; Fuentealba P,Carlos; Ballesteros J,Francisco; Pacheco R,Daniel; Alvarez C,María; Dabanch,Jeannette; Cona T,Erna;
Revista médica de Chile , 2000, DOI: 10.4067/S0034-98872000000500011
Abstract: nocardia asteroides infection are unusually observed in sistemic lupus erithematous (sle) patients. they are generally associated to steroidal and immunosuppressive therapy. we report a 24 years old female with sle diagnosed in 1994 who developed a severe preeclampsia in her first pregnancy requiring emergency caesarean section. post partum acute renal failure and type iv lupus nephropathy were treated with hemodialysis, metilprednisolone, cyclophosphamide and prednisone. three months later, while she was receving the fourth cyclophosphamide dose, she presented with a pleuro pneumonia and occipital abscess, both caused by nocardia asteroides. she was treated with cotrimoxazole + cefixime and pleural decortication was required. five months later, she developed meningitis caused by nocardia asteroides and hydrocephalus. she was treated with ceftriaxone, vancomycin, cotrimoxazole and ventricular shunting procedure. two months later, a retroperitoneal abscess was diagosed and surgically drained but the patient died, due to a methicillin-resistant staphylococcus aureus septicemia. (rev méd chile 2000; 128: 526-8)
Asistencia ventricular mecánica como puente al trasplante en pacientes en shock cardiogénico: Experiencia preliminar en Chile con ABIOMED BVS 5000?
Castro G,Pablo; Baraona R,Fernando; Baeza P,Cristian; Mc-Nab M,Paul; Berlin R,Alejandro; Zalaquett S,Ricardo; Morán V,Sergio; Becker R,Pedro; Irarrázabal Ll,Manuel; Garayar P,Bernardita; Carvajal T,Mario; Cisternas Y,Sergio;
Revista médica de Chile , 2006, DOI: 10.4067/S0034-98872006000800011
Abstract: hospitalization and death due to heart failure and cardiogenic shock is frequent and currently is increasing among the adult population. although cardiac transplantation is the most effective treatment in patients with end-stage heart failure, its availability is limited. while waiting for transplantation, some patients become refractory to treatment and deteriorate progressively. secondary multi-organ damage could highly compromise the transplant success and also could contraindicate it. mechanical ventricular assist devices allow reestablishing normal cardiac output and they have been used as a bridge to recovery and transplantation. we report four patients that underwent mechanical ventricular support using the abiomed bvs 5000? system as a bridge for transplantation. two patients were connected to biventricular assistance; a third patient was connected to a left ventricular support and the fourth to a right ventricular support. three were successfully transplanted and one died of refractory non-cardiogenic shock. there were no complications related to the support system, such as infection, hemorrhage or stroke. in our experience, the abiomed bvs 5000? was an effective strategy as a bridge to heart transplant in patients in cardiogenic shock (rev méd chile 2006; 134: 1019-23).
Valor pronóstico de la monitoría ambulatoria de presión arterial en pacientes hipertensos: Observaciones en la literatura
Mc-Nab M,Paul; Jalil,Jorge E;
Revista médica de Chile , 2005, DOI: 10.4067/S0034-98872005000100012
Abstract: there is a large amount of information in the literature to state that blood pressure control using ambulatory blood pressure measurement has a better predictive value for future cardiovascular events and target organ damage than casual blood pressure measurements. clinical studies are currently evaluating if this approach is cost-effective. at the present time, and in the usual clinical practice, the use of ambulatory blood pressure monitoring is recommended for patients with resistant or difficult-to-control hypertension, for hypertensive patients with previous cardiovascular events or significant target organ damage, for the diagnosis of white coat hypertension, when there are symptoms suggesting hypotension or there is large variability in casual blood pressure measurements (rev méd chile 2005; 133: 89-95)
A experiência da enfermidade e o itinerário terapêutico vivenciado por uma pessoa com infarto
Fabiana Rodrigues Zequini Nab?o,S?nia Ayako Tao Maruyama
Revista Eletr?nica de Enfermagem , 2009,
Abstract: Este estudo tem por objetivo compreender a experiência da enfermidade e o itinerário terapêutico em rela o àvivência da dor empreendida por uma pessoa com IAM evento sentinela da hipertens o, procedente domunicípio de Marcelandia em Mato Grosso nos múltiplos sistemas de cuidado em saúde empreendido por ela nabusca por aten o à sua saúde. O estudo foi sustentado nos conceitos de: Integralidade, experiência daenfermidade, itinerário terapêutico e história de vida focal. A História de Vida Focal foi operacionalizada pelaentrevista em profundidade, na tentativa de apreender a experiência da dor vivida por Dona Florinda, em suatrajetória de adoecimento entre fevereiro e maio de 2007. A discuss o e análise dos dados possibilitaram acompreens o de sua experiência no momento da dor, sendo marcado por componentes socioculturais quedeterminaram suas escolhas, inicialmente a busca por cuidado popular, depois, resistindo a entrada no setorprofissional, busca pelo “farmacêutico”, este tendo a fun o de direcionar a sua passagem ao setor profissional,e como num processo ritual, ent o ela entra no sistema profissional de cuidados à saúde.
Valor pronóstico de la monitoría ambulatoria de presión arterial en pacientes hipertensos: Observaciones en la literatura Prognostic value of Ambulatory Blood Pressure Monitoring in hypertensive patients: A review
Paul Mc-Nab M,Jorge E Jalil
Revista médica de Chile , 2005,
Abstract: There is a large amount of information in the literature to state that blood pressure control using ambulatory blood pressure measurement has a better predictive value for future cardiovascular events and target organ damage than casual blood pressure measurements. Clinical studies are currently evaluating if this approach is cost-effective. At the present time, and in the usual clinical practice, the use of ambulatory blood pressure monitoring is recommended for patients with resistant or difficult-to-control hypertension, for hypertensive patients with previous cardiovascular events or significant target organ damage, for the diagnosis of white coat hypertension, when there are symptoms suggesting hypotension or there is large variability in casual blood pressure measurements (Rev Méd Chile 2005; 133: 89-95)
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