Genetic association studies usually apply the simple chi-square (χ<sup>2</sup>)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotyp...Genetic association studies usually apply the simple chi-square (χ<sup>2</sup>)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotypes and phenotypes are independent. So, the conventional χ<sup>2</sup>-test does not consider the increased risk of an individual carrying the increasing number of disease responsible allele (a particular genotype). But, the association tests should be performed with the consideration of this disease risk according to the mode of inheritance (additive, dominant, recessive). Practical demonstration of the two possible methods for considering such order or trends in contingency tables of genetic association studies using SNP genotype data is the purpose of this paper. One method is by pooling the genotypes, and the other is scoring the individual genotypes, based on the disease risk according to the inheritance pattern. The results show that the p-values obtained from both the methods are similar for the dominant and recessive models. The other important features of the methods were also extracted using the SNP genotype data for different inheritance patterns.展开更多
Family-based tests of association between a genetic marker and a disease constitute a common design to dissect the genetic architecture of complex traits. The FBAT software is one of the most popular tools to perform ...Family-based tests of association between a genetic marker and a disease constitute a common design to dissect the genetic architecture of complex traits. The FBAT software is one of the most popular tools to perform such studies. However, researchers are also often interested in the genetic contribution to a more specific manifestation of the phenotype (e.g. severe vs. non-severe form) known as a secondary outcome. Here, what we demonstrate is the limited power of the classical formulation of the FBAT statistic to detect the effect of genetic variants that influence a secondary outcome, in particular when these variants also impact on the onset of the disease, the primary outcome. We prove that this loss of power is driven by an implicit hypothesis, and we propose a derivation of the original FBAT statistic, free from this implicit hypothesis. Finally, we demonstrate analytically that our new statistic is robust and more powerful than FBAT for the detection of association between a genetic variant and a secondary outcome.展开更多
Introduction Difficulties in accessing the screening test for viral hepatitis B in maternity wards could be a factor in underestimating the prevalence of anti-HBV antibodies. The rapid diagnostic orientation test (RDO...Introduction Difficulties in accessing the screening test for viral hepatitis B in maternity wards could be a factor in underestimating the prevalence of anti-HBV antibodies. The rapid diagnostic orientation test (RDOT) could improve seroprevalence and obstetrical prognosis. The aim of this study was to use the rapid diagnostic orientation test (RDOT) to determine the seroprevalence of HBs antigen carriage in pregnant women while highlighting the associated factors. Methods This was a cross-sectional and descriptive study that took place from October to December 2020 (three months) in three (03) reference maternities in western Benin (Mono). Consenting pregnant women received in prenatal consultation had been screened by RDOT. Positive cases were confirmed by ELISA test. The follow-up of these cases made it possible to establish the obstetrical prognosis. Results Of 201 women studied, 11 (5.5%) were positive for RDOT HBV and confirmed by the ELISA test. The factors associated with HBsAg carriage during pregnancy were multiple sexual partnerships (p = 0.01), female circumcision (p = 0.0001), and ignorance of prior HBV serological status (p = 0.0001). No influence of hepatitis B on pregnancy was noted. Conclusion The seroprevalence of hepatitis B in pregnancy was intermediate in the reference maternities of western Benin. The associated factors were multiple sexual partnerships, female circumcision and unawareness of prior HBV status. Free RDOT in maternity wards would improve early detection and management of viral hepatitis B in pregnancy.展开更多
Inferences of subtle cerebral injury and dysfunction have been historically dependent upon psychometric tests from which clinical neuropsychological profiles are generated. In addition to being secondary, over-inclusi...Inferences of subtle cerebral injury and dysfunction have been historically dependent upon psychometric tests from which clinical neuropsychological profiles are generated. In addition to being secondary, over-inclusive and crude indicators of cerebral activity, psychometric tests are subject to economic incentives to “re-norm” traditional methods under the pretense of “ensuring” contemporary representations that are sanctioned by regulating organizations dominated by agendas of control over the interpretations of clinicians. The validity of neuropsychological tests is essential for their perspicacious application and interpretations. We measured the quantitative electroen-cephalographic profiles and calculated s-LORETA (standardized Low Resolution Electromagnetic Tomography) profiles in real time for normal men and women while they engaged in both traditional and novel neuropsychological tests that were employed to infer localized brain injury. Conspicuous alterations in source current density within specific frequency bands occurred within various regions of the right prefrontal region during performance of the Category, Design Fluency and Conditioned Spatial Association Test, the prefrontal medial surface during Toe Graphaesthesia, the caudal medial surface during Toe Gnosis, the left temporal region during Speech-Sounds, and within the right retrosplenial-parahippocampal region for Seashore Rhythms. Results supported the well established regional associations with the classic neuropsychological tests, verified the cerebral localization with more recent procedures, and emphasized the utility of modern real-time, direct cerebral imaging procedures.展开更多
Objective:To assess the distribution of ABO blood group and their relationship with Plasmodium falciparum(P.falciparum) malaria among febrile outpatients who sought medical attention at Dore Bafeno Health Center,South...Objective:To assess the distribution of ABO blood group and their relationship with Plasmodium falciparum(P.falciparum) malaria among febrile outpatients who sought medical attention at Dore Bafeno Health Center,Southern Ethiopia.Methods:A total of 269 febrile outpatients who visited Dore Bafeno Health Center,Southern Ethiopia,were examined for malaria and also tested for ABO blood groups in January 2010.The blood specimens were collected by finger pricking,stained with Geimsa,and examined microscopically.Positive cases of the parasitemia were counted.CareStart^(TM) Malaria PflPv Combo was also used to test the blood specimens for malaria.ABO blood groups were determined by agglutination test using ERYCLONE antisera.Data on socio-demographic characteristics and treatment status of the participants were also collected.Chi-square and ANOVA tests were used to assess the difference between frequencies and means,respectively.Results:Out of a total of 269 participants,178(66.2%) febrile patients were found to be infected with Plasmodium parasites,among which 146(54.3%),28(10.4%),and 4(1.5%) belonged to P.falciparum,P.vivax,and mixed infections,respectively.All febrile patients were also tested for ABO blood groups and 51.3%,23.5%,21.9%and 3.3%were found to be blood types of 0,A,B and AB,respectively.Both total malaria infection and P.falciparum infection showed significant association with blood types(P<0.05).The proportion of A or B but not 0 phenotypes was higher(P<0.05) in individuals with P.falciparum as compared with non-infected individuals.The chance of having P.falciparum infection in patients with blood groups A,B and AB was 2.5,2.5 and 3.3times more than individuals showing blood 0 phenotypes,respectively.The mean P.falciparum malaria parasitemia for blood groups A,B,AB,and 0 were 3 744/μ L,1 805/ μ L,5 331/μ L,and1 515/μ L,respectively(P<0.01).Conclusions:The present findings indicate that individuals of blood groups A,B and AB are more susceptible to P.falciparum infection as compared with individuals of blood group O.Nevertheless,further in depth studies are required to clearly establish the role that ABO blood group plays in P.falciparum malaria.展开更多
OBJECTIVE: To recognize the significances of the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of hemispatial neglect (HSN) in the treatment and prognosis of stroke patie...OBJECTIVE: To recognize the significances of the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of hemispatial neglect (HSN) in the treatment and prognosis of stroke patients. DATA SOURCES: Articles related to HSN in stroke published in English from January 1985 to December 2002 were searched in Medline database by using the keywords of "stroke, hemispatial neglect (HSN), rehabilitation". Chinese relevant professional works and articles were also referred to. STUDY SELECTION: The data were primarily checked. Inclusive criteria: ① articles about the HSN symptoms in stroke; ② articles about the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of HSN, as well as the treatment and prognosis of stroke. The repetitive studies or reviews were excluded. DATA EXTRACTION : Totally 474 articles related to HSN in stroke were collected, 43 of them were involved and 431 repetitive studies or reviews were excluded. DATA SYNTHESES: HSN can be classified as sensory neglect and motor neglect. Because HSN is caused by the injury of network structure which mediated directed attention, it is generally believed that the inferior parietal Iobule of dominant hemisphere is the most closely correlated with neglect. The main theories related to the pathogenesis of HSN at present include "internal instruction", "directed bradykinesia", "sensory attention", etc. The main clinical manifestations are setover in drawing lines, picture drawing towards one side, imitation towards one side, picture description towards one side, etc., which can be evaluated by the line bisection test, target cancellation test, picture drawing test and pegboard test. The most important thing for the treatment is to make the patients continuously concentrate on the neglected side. CONCLUSION: HSN is an indicator for the bad outcome of cerebrovascular disease, the symptoms take longer time to rehabilitate with slow recovery, but quite a few HSN patients will get good prognosis if timely treatment and proper program are given.展开更多
文摘Genetic association studies usually apply the simple chi-square (χ<sup>2</sup>)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotypes and phenotypes are independent. So, the conventional χ<sup>2</sup>-test does not consider the increased risk of an individual carrying the increasing number of disease responsible allele (a particular genotype). But, the association tests should be performed with the consideration of this disease risk according to the mode of inheritance (additive, dominant, recessive). Practical demonstration of the two possible methods for considering such order or trends in contingency tables of genetic association studies using SNP genotype data is the purpose of this paper. One method is by pooling the genotypes, and the other is scoring the individual genotypes, based on the disease risk according to the inheritance pattern. The results show that the p-values obtained from both the methods are similar for the dominant and recessive models. The other important features of the methods were also extracted using the SNP genotype data for different inheritance patterns.
基金supported by the Programme Blanc de l’Agence National de la Recherche.
文摘Family-based tests of association between a genetic marker and a disease constitute a common design to dissect the genetic architecture of complex traits. The FBAT software is one of the most popular tools to perform such studies. However, researchers are also often interested in the genetic contribution to a more specific manifestation of the phenotype (e.g. severe vs. non-severe form) known as a secondary outcome. Here, what we demonstrate is the limited power of the classical formulation of the FBAT statistic to detect the effect of genetic variants that influence a secondary outcome, in particular when these variants also impact on the onset of the disease, the primary outcome. We prove that this loss of power is driven by an implicit hypothesis, and we propose a derivation of the original FBAT statistic, free from this implicit hypothesis. Finally, we demonstrate analytically that our new statistic is robust and more powerful than FBAT for the detection of association between a genetic variant and a secondary outcome.
文摘Introduction Difficulties in accessing the screening test for viral hepatitis B in maternity wards could be a factor in underestimating the prevalence of anti-HBV antibodies. The rapid diagnostic orientation test (RDOT) could improve seroprevalence and obstetrical prognosis. The aim of this study was to use the rapid diagnostic orientation test (RDOT) to determine the seroprevalence of HBs antigen carriage in pregnant women while highlighting the associated factors. Methods This was a cross-sectional and descriptive study that took place from October to December 2020 (three months) in three (03) reference maternities in western Benin (Mono). Consenting pregnant women received in prenatal consultation had been screened by RDOT. Positive cases were confirmed by ELISA test. The follow-up of these cases made it possible to establish the obstetrical prognosis. Results Of 201 women studied, 11 (5.5%) were positive for RDOT HBV and confirmed by the ELISA test. The factors associated with HBsAg carriage during pregnancy were multiple sexual partnerships (p = 0.01), female circumcision (p = 0.0001), and ignorance of prior HBV serological status (p = 0.0001). No influence of hepatitis B on pregnancy was noted. Conclusion The seroprevalence of hepatitis B in pregnancy was intermediate in the reference maternities of western Benin. The associated factors were multiple sexual partnerships, female circumcision and unawareness of prior HBV status. Free RDOT in maternity wards would improve early detection and management of viral hepatitis B in pregnancy.
文摘Inferences of subtle cerebral injury and dysfunction have been historically dependent upon psychometric tests from which clinical neuropsychological profiles are generated. In addition to being secondary, over-inclusive and crude indicators of cerebral activity, psychometric tests are subject to economic incentives to “re-norm” traditional methods under the pretense of “ensuring” contemporary representations that are sanctioned by regulating organizations dominated by agendas of control over the interpretations of clinicians. The validity of neuropsychological tests is essential for their perspicacious application and interpretations. We measured the quantitative electroen-cephalographic profiles and calculated s-LORETA (standardized Low Resolution Electromagnetic Tomography) profiles in real time for normal men and women while they engaged in both traditional and novel neuropsychological tests that were employed to infer localized brain injury. Conspicuous alterations in source current density within specific frequency bands occurred within various regions of the right prefrontal region during performance of the Category, Design Fluency and Conditioned Spatial Association Test, the prefrontal medial surface during Toe Graphaesthesia, the caudal medial surface during Toe Gnosis, the left temporal region during Speech-Sounds, and within the right retrosplenial-parahippocampal region for Seashore Rhythms. Results supported the well established regional associations with the classic neuropsychological tests, verified the cerebral localization with more recent procedures, and emphasized the utility of modern real-time, direct cerebral imaging procedures.
基金Supported by School of Graduate Studies through Aklilu LemmaInstitute of Pathobiology,Addis Ababa University(No:RDP/Py-014/09)
文摘Objective:To assess the distribution of ABO blood group and their relationship with Plasmodium falciparum(P.falciparum) malaria among febrile outpatients who sought medical attention at Dore Bafeno Health Center,Southern Ethiopia.Methods:A total of 269 febrile outpatients who visited Dore Bafeno Health Center,Southern Ethiopia,were examined for malaria and also tested for ABO blood groups in January 2010.The blood specimens were collected by finger pricking,stained with Geimsa,and examined microscopically.Positive cases of the parasitemia were counted.CareStart^(TM) Malaria PflPv Combo was also used to test the blood specimens for malaria.ABO blood groups were determined by agglutination test using ERYCLONE antisera.Data on socio-demographic characteristics and treatment status of the participants were also collected.Chi-square and ANOVA tests were used to assess the difference between frequencies and means,respectively.Results:Out of a total of 269 participants,178(66.2%) febrile patients were found to be infected with Plasmodium parasites,among which 146(54.3%),28(10.4%),and 4(1.5%) belonged to P.falciparum,P.vivax,and mixed infections,respectively.All febrile patients were also tested for ABO blood groups and 51.3%,23.5%,21.9%and 3.3%were found to be blood types of 0,A,B and AB,respectively.Both total malaria infection and P.falciparum infection showed significant association with blood types(P<0.05).The proportion of A or B but not 0 phenotypes was higher(P<0.05) in individuals with P.falciparum as compared with non-infected individuals.The chance of having P.falciparum infection in patients with blood groups A,B and AB was 2.5,2.5 and 3.3times more than individuals showing blood 0 phenotypes,respectively.The mean P.falciparum malaria parasitemia for blood groups A,B,AB,and 0 were 3 744/μ L,1 805/ μ L,5 331/μ L,and1 515/μ L,respectively(P<0.01).Conclusions:The present findings indicate that individuals of blood groups A,B and AB are more susceptible to P.falciparum infection as compared with individuals of blood group O.Nevertheless,further in depth studies are required to clearly establish the role that ABO blood group plays in P.falciparum malaria.
文摘OBJECTIVE: To recognize the significances of the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of hemispatial neglect (HSN) in the treatment and prognosis of stroke patients. DATA SOURCES: Articles related to HSN in stroke published in English from January 1985 to December 2002 were searched in Medline database by using the keywords of "stroke, hemispatial neglect (HSN), rehabilitation". Chinese relevant professional works and articles were also referred to. STUDY SELECTION: The data were primarily checked. Inclusive criteria: ① articles about the HSN symptoms in stroke; ② articles about the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of HSN, as well as the treatment and prognosis of stroke. The repetitive studies or reviews were excluded. DATA EXTRACTION : Totally 474 articles related to HSN in stroke were collected, 43 of them were involved and 431 repetitive studies or reviews were excluded. DATA SYNTHESES: HSN can be classified as sensory neglect and motor neglect. Because HSN is caused by the injury of network structure which mediated directed attention, it is generally believed that the inferior parietal Iobule of dominant hemisphere is the most closely correlated with neglect. The main theories related to the pathogenesis of HSN at present include "internal instruction", "directed bradykinesia", "sensory attention", etc. The main clinical manifestations are setover in drawing lines, picture drawing towards one side, imitation towards one side, picture description towards one side, etc., which can be evaluated by the line bisection test, target cancellation test, picture drawing test and pegboard test. The most important thing for the treatment is to make the patients continuously concentrate on the neglected side. CONCLUSION: HSN is an indicator for the bad outcome of cerebrovascular disease, the symptoms take longer time to rehabilitate with slow recovery, but quite a few HSN patients will get good prognosis if timely treatment and proper program are given.