To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for...To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for dioxin related male infertility. Association study of male infertility with polymorphisms. National research institute and university hospitals. 123 Japanese men with azoospermia or severe oligozoospermia and 112 men with proven fertility. Polymorphism analysis. The allele and genotype frequencies between infertile men and controls. The allele and genotype frequencies of the AHR polymorphism were comparable between infertile men and controls. By contrast, although the difference in the allele frequency of the AHRR polymorphism did not reach a significant level, the genotype frequency was statistically significantly different between the two groups of men. Furthermore, the statistical difference became more significant when the frequency was compared between the Pro/Pro genotype and the Pro/Ala plus Ala/Ala genotype. The Pro185Ala polymorphism in AHRR may constitute a susceptibility locus for dioxin related male infertility. It appears that the negative feedback effect of AHRR on dioxin related signaling is weaker for the proline allele than for the alanine allele, and that the hypomorphic function of the proline allele exerts a recessive adverse effect on male fertility.展开更多
Objective. - To investigate the 5- HTT- gene- linked polymorphic region (5- HTTLPR) genotypes and harm avoidance (HA) dimension in chronic tension- type headache (CTH). Background. - Serotonin transporter protein (5- ...Objective. - To investigate the 5- HTT- gene- linked polymorphic region (5- HTTLPR) genotypes and harm avoidance (HA) dimension in chronic tension- type headache (CTH). Background. - Serotonin transporter protein (5- HTT) is a key modulating protein in synaptic serotonergic neurotransmission. Among serotonin gene- linked polymorphism, promoter located in the regulatory region of the 5- HTTLPR has two alleles (short and long) with different transcriptional efficiencies. The HA personality trait may be heritable and associated with serotonergic neurotransmitter activity. Design. - We amplified the 5- HTTLPR by means of polymerase chain reaction and performed genotype polymorphism analyses and we investigated the serotonin- related personality trait by evaluating the HA dimension in tridimensional personality questionnaire (TPQ) in 107 patients with CTH and in 100 healthy controls. Results. - We found an excess frequency of the short allele and a different genotype distribution in patients with CTH. S/S genotype frequency was significantly higher in patients with CTH (76% )- than in those with controls (59% ; P= .02). Patients with CTH had significantly higher HA scores (21.4 ± 6.3) than controls (16.3 ± 6.1). Conclusions. - This suggests a serotonergic activity might be involved in the development of CTH and 5- HTTLPR might be one of the genetically contributing factors.展开更多
Objective.Norovirus(NV) is an etiologic agent of outstanding importance that can cause severe epidemic gastroenteritis in day-care centers,schools,nursing homes,and hospitals.Therefore NV requires foremost attention a...Objective.Norovirus(NV) is an etiologic agent of outstanding importance that can cause severe epidemic gastroenteritis in day-care centers,schools,nursing homes,and hospitals.Therefore NV requires foremost attention as a pathogen responsible for epidemics of gastroenteritis in immunocompromised inpatients.In this study,a NV outbreak in a pediatric oncology unit is described and the consequences for this high-risk population are discussed.Material and methods.Stool and vomitus samples from 11 patients were tested for NV and other relevant viruses during the outbreak by reverse transcriptase-polymerase chain reaction(RT-PCR) and/or enzyme-linked immunosorbent assay(ELISA) (whenever an appropriate ELISA was available) .Norwalk virus PCR amplifications were sequenced and phylogenetic analysis was performed.Results.The index patient and the chain of infection were identified.Follow-up investigation surprisingly demonstrated viral shedding for a maximum of 140 days(median 23 days) .Three patients experienced severe or life-threatening symptoms,probably related to NV infection.Conclusions.In the event of an outbreak of gastroenteritis(involving two or more symptomatic patients) in a pediatric oncology unit,the search for NV in stool or vomitus specimens should be initiated in good time.As long as the data are limited regarding whether a detectable viral antigen or RNA in stools represents an infectious virus,patients have to be isolated as long as the diagnostic assays remain positive.During the acute phase of the illness,health-care workers should wear masks in addition to practicing meticulous hand hygiene with a disinfectant of proven activity against NV.Pediatric oncology patients must be closely monitored during follow-up investigations as they may shed the virus for months.There is some evidence from the outbreak described here that those patients face a greater risk of severe NV-related complications.展开更多
文摘To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for dioxin related male infertility. Association study of male infertility with polymorphisms. National research institute and university hospitals. 123 Japanese men with azoospermia or severe oligozoospermia and 112 men with proven fertility. Polymorphism analysis. The allele and genotype frequencies between infertile men and controls. The allele and genotype frequencies of the AHR polymorphism were comparable between infertile men and controls. By contrast, although the difference in the allele frequency of the AHRR polymorphism did not reach a significant level, the genotype frequency was statistically significantly different between the two groups of men. Furthermore, the statistical difference became more significant when the frequency was compared between the Pro/Pro genotype and the Pro/Ala plus Ala/Ala genotype. The Pro185Ala polymorphism in AHRR may constitute a susceptibility locus for dioxin related male infertility. It appears that the negative feedback effect of AHRR on dioxin related signaling is weaker for the proline allele than for the alanine allele, and that the hypomorphic function of the proline allele exerts a recessive adverse effect on male fertility.
文摘Objective. - To investigate the 5- HTT- gene- linked polymorphic region (5- HTTLPR) genotypes and harm avoidance (HA) dimension in chronic tension- type headache (CTH). Background. - Serotonin transporter protein (5- HTT) is a key modulating protein in synaptic serotonergic neurotransmission. Among serotonin gene- linked polymorphism, promoter located in the regulatory region of the 5- HTTLPR has two alleles (short and long) with different transcriptional efficiencies. The HA personality trait may be heritable and associated with serotonergic neurotransmitter activity. Design. - We amplified the 5- HTTLPR by means of polymerase chain reaction and performed genotype polymorphism analyses and we investigated the serotonin- related personality trait by evaluating the HA dimension in tridimensional personality questionnaire (TPQ) in 107 patients with CTH and in 100 healthy controls. Results. - We found an excess frequency of the short allele and a different genotype distribution in patients with CTH. S/S genotype frequency was significantly higher in patients with CTH (76% )- than in those with controls (59% ; P= .02). Patients with CTH had significantly higher HA scores (21.4 ± 6.3) than controls (16.3 ± 6.1). Conclusions. - This suggests a serotonergic activity might be involved in the development of CTH and 5- HTTLPR might be one of the genetically contributing factors.
文摘Objective.Norovirus(NV) is an etiologic agent of outstanding importance that can cause severe epidemic gastroenteritis in day-care centers,schools,nursing homes,and hospitals.Therefore NV requires foremost attention as a pathogen responsible for epidemics of gastroenteritis in immunocompromised inpatients.In this study,a NV outbreak in a pediatric oncology unit is described and the consequences for this high-risk population are discussed.Material and methods.Stool and vomitus samples from 11 patients were tested for NV and other relevant viruses during the outbreak by reverse transcriptase-polymerase chain reaction(RT-PCR) and/or enzyme-linked immunosorbent assay(ELISA) (whenever an appropriate ELISA was available) .Norwalk virus PCR amplifications were sequenced and phylogenetic analysis was performed.Results.The index patient and the chain of infection were identified.Follow-up investigation surprisingly demonstrated viral shedding for a maximum of 140 days(median 23 days) .Three patients experienced severe or life-threatening symptoms,probably related to NV infection.Conclusions.In the event of an outbreak of gastroenteritis(involving two or more symptomatic patients) in a pediatric oncology unit,the search for NV in stool or vomitus specimens should be initiated in good time.As long as the data are limited regarding whether a detectable viral antigen or RNA in stools represents an infectious virus,patients have to be isolated as long as the diagnostic assays remain positive.During the acute phase of the illness,health-care workers should wear masks in addition to practicing meticulous hand hygiene with a disinfectant of proven activity against NV.Pediatric oncology patients must be closely monitored during follow-up investigations as they may shed the virus for months.There is some evidence from the outbreak described here that those patients face a greater risk of severe NV-related complications.
