Aim： To determine if Yq microdeletion frequency and loci of deletion are similar in two tissues （blood and sperm） of different embryological origin. Methods： The present study included 52 infertile oligozoospermic...Aim： To determine if Yq microdeletion frequency and loci of deletion are similar in two tissues （blood and sperm） of different embryological origin. Methods： The present study included 52 infertile oligozoospermic cases. In each case, DNA was isolated from blood and sperms and polymerase chain reaction （PCR） microdeletion analysis was done from genomic DNA isolated from both the tissues. The PCR products were analyzed on a 1.8% agarose gel. PCR amplifications found to be negative were repeated at least three times to confirm the deletion of a given marker. Results： Only 1 case harbored microdeletion in blood DNA, whereas 4 cases harbored microdeletion in sperm DNA. Conclusion： The frequency of Yq microdeletions is higher in germ cells as compared to blood. As the majority of infertile couples opt for assisted reproduction procreation techniques （ART）, Yq microdeletion screening from germ cells is important to understand the genetic basis of infertility, to provide comprehensive counseling and most adapted therapeutics to the infertile couple.展开更多
Assisted procreation techniques have revolutionized the management of infertility and have offered hope to millions of infertile couples. The main aim of these procedures is to produce healthy offspring. However recen...Assisted procreation techniques have revolutionized the management of infertility and have offered hope to millions of infertile couples. The main aim of these procedures is to produce healthy offspring. However recent studies on short term outcome of ART have reported a higher incidence of low birth weight, development delay, imprinting defects, sex and autosomal structural abnormalities, major and minor congenital malformation and certain cancers in babies conceived via ART. Further the health of ART conceived children beyond the neonatal period have been less well evaluated. A large number of infertile couples opting for ART have an underlying genetic aetiology. These genetic aberrations are iatrogenitically transmitted via ART. Thus it is important that all couples undergo a detailed and comprehensive genetic evaluation prior to ART.展开更多
Introduction: With advances in the management of patients living with HIV and AIDS (PLHA), not only survival has increased but manifestations of late stage HIV infection are encountered more often including cardiovasc...Introduction: With advances in the management of patients living with HIV and AIDS (PLHA), not only survival has increased but manifestations of late stage HIV infection are encountered more often including cardiovascular complications. Aims and Objectives: To determine the prevalence and characteristics of cardiac manifestations in patients with HIV infection and to evaluate their correlation with CD4 count. Materials and Method: 70 consecutive patients with HIV infection admitted to Post Graduate Department of Medicine from the period of July 2010 to August 2011 were studied. All cases of PLHA diagnosed after positive ELISA test for HIV infection were included, whereas those with congenital heart disease, rheumatic heart disease, hypertension, Ischemic heart disease were excluded from the study. CD4 count and 2D echocardiography along with routine investigations were done for all patients. Result: Male to female ratio was 2:1. Echocardiographic abnormalities were seen in 58% of patients. Reduced ejection fraction (below 50%) and fractional shortening below 30% were the most common cardiac abnormality (48.7%) followed by pericardial effusion (17.4%), pulmonary artery hypertension (11.4%), dilated cardiomyopathy (8.5%), diastolic dysfunction (8.5%) and regional wall motion abnormality (1.4%) respectively. Significant statistical positive correlation was observed between low CD4 count and echocardiographic abnormalities (p < 0.0001). Pericardial effusion was seen more in patients with CD4 count below 200 (p < 0.001). Maximum number of echocardiographic abnormalities was seen in WHO clinical stage IV. Conclusions: Cardiac manifestations are frequent PLHA in our population but do not have detectable clinical manifestation. Echocardiographic abnormalities have a strong correlation with low CD4 count and occur more in advanced stage of the disease.展开更多
文摘Aim： To determine if Yq microdeletion frequency and loci of deletion are similar in two tissues （blood and sperm） of different embryological origin. Methods： The present study included 52 infertile oligozoospermic cases. In each case, DNA was isolated from blood and sperms and polymerase chain reaction （PCR） microdeletion analysis was done from genomic DNA isolated from both the tissues. The PCR products were analyzed on a 1.8% agarose gel. PCR amplifications found to be negative were repeated at least three times to confirm the deletion of a given marker. Results： Only 1 case harbored microdeletion in blood DNA, whereas 4 cases harbored microdeletion in sperm DNA. Conclusion： The frequency of Yq microdeletions is higher in germ cells as compared to blood. As the majority of infertile couples opt for assisted reproduction procreation techniques （ART）, Yq microdeletion screening from germ cells is important to understand the genetic basis of infertility, to provide comprehensive counseling and most adapted therapeutics to the infertile couple.
文摘Assisted procreation techniques have revolutionized the management of infertility and have offered hope to millions of infertile couples. The main aim of these procedures is to produce healthy offspring. However recent studies on short term outcome of ART have reported a higher incidence of low birth weight, development delay, imprinting defects, sex and autosomal structural abnormalities, major and minor congenital malformation and certain cancers in babies conceived via ART. Further the health of ART conceived children beyond the neonatal period have been less well evaluated. A large number of infertile couples opting for ART have an underlying genetic aetiology. These genetic aberrations are iatrogenitically transmitted via ART. Thus it is important that all couples undergo a detailed and comprehensive genetic evaluation prior to ART.
文摘Introduction: With advances in the management of patients living with HIV and AIDS (PLHA), not only survival has increased but manifestations of late stage HIV infection are encountered more often including cardiovascular complications. Aims and Objectives: To determine the prevalence and characteristics of cardiac manifestations in patients with HIV infection and to evaluate their correlation with CD4 count. Materials and Method: 70 consecutive patients with HIV infection admitted to Post Graduate Department of Medicine from the period of July 2010 to August 2011 were studied. All cases of PLHA diagnosed after positive ELISA test for HIV infection were included, whereas those with congenital heart disease, rheumatic heart disease, hypertension, Ischemic heart disease were excluded from the study. CD4 count and 2D echocardiography along with routine investigations were done for all patients. Result: Male to female ratio was 2:1. Echocardiographic abnormalities were seen in 58% of patients. Reduced ejection fraction (below 50%) and fractional shortening below 30% were the most common cardiac abnormality (48.7%) followed by pericardial effusion (17.4%), pulmonary artery hypertension (11.4%), dilated cardiomyopathy (8.5%), diastolic dysfunction (8.5%) and regional wall motion abnormality (1.4%) respectively. Significant statistical positive correlation was observed between low CD4 count and echocardiographic abnormalities (p < 0.0001). Pericardial effusion was seen more in patients with CD4 count below 200 (p < 0.001). Maximum number of echocardiographic abnormalities was seen in WHO clinical stage IV. Conclusions: Cardiac manifestations are frequent PLHA in our population but do not have detectable clinical manifestation. Echocardiographic abnormalities have a strong correlation with low CD4 count and occur more in advanced stage of the disease.
