Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications.

Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

Effect of selective serotonin reuptake inhibitors on expression of 5-HT1AR and neurotransmitters in rats with vascular dementia.

5-hydroxytryptamine receptor 1A (5-HT1AR) is closely associated with cognitive functions. Selective serotonin reuptake inhibitors (SSRIs) can protect individuals from brain damage following ischemia/hypoxia. To investigate the function of SSRIs in vascular dementia (VD), we established a rat model of VD, and observed the effect of SSRIs on the expression of 5-HT1AR mRNA and neurotransmitters. Male SD rats (6 months) were randomly assigned into sham, model, and SSRI groups (N = 30). VD was achieved by permanent ligation of the bilateral common carotid artery. Escitalopram, a highly selective 5-HT reabsorption inhibitor, was ip injected into the rats for three consecutive weeks. The Morris water-maze was used to test learning and memory. H&E staining for neuronal injury was conducted on cortical and hippocampal tissues. HPLC was used to determine the levels of dopamine (DA), 5-HT, and norepinephrine (NE). RT-PCR was used to determine expression of 5-HT1AR mRNA. As compared to control rats, model animals demonstrated elongated escape latency, lower platform crossing times, and significant injuries to hippocampal CA1 neurons. This was accompanied by reductions in DA, 5-HT, and NE levels in hippocampal tissues, as well as reduced cortical 5-HT and decreased 5-HT1AR mRNA expression (P < 0.05). Escitalopram treatments reduced escape latency, elevated platform crossing times, improved CA1 neuronal damage, increased DA and 5-HT levels in hippocampal and cortical neurons, as well as elevated expression of 5-HT1AR mRNA (P < 0.05). Therefore, SSRIs may improve cognitive dysfunction of VD rats, possibly by stimulating expression of neurotransmitters and protecting neurons.

Cytogenetic evaluation of cataract patients occupationally exposed to ionizing radiation in northeast China.

Long-term radiation exposure is hazardous to health; late-onset effects of exposure to ionizing radiation (IR) pose risks to the lens, and are associated with other non-cancerous diseases. Individuals occupationally exposed to low-dose IR are prone to developing eye cataracts. Cytogenetic evaluations suggest that IR is associated with chromosomal aberrations in occupationally exposed individuals. However, data regarding the association between chromosomal aberrations in cataract patients and occupational exposure to IR is scarce. Therefore, we aimed to report the characteristics of chromosomal aberrations in cataract patients from a Chinese population, occupationally exposed to IR. We found that the average age and frequency of numerical chromosomal aberrations were significantly lower in the exposed patients as compared with that in the non-exposed patients. In addition, the frequencies of dicentric and acentric chromosomes were significantly higher in the exposed patients as compared with those in the non-exposed patients. Therefore, chronic occupational exposure to IR affects cataract development in the Chinese population. The age of cataract patients exposed to IR was significantly lower than the age of cataract onset in normal individuals. Based on this study, we suggest that there is an urgent need for improved radiation safety and eye protection in individuals exposed to IR in the work place.

Psychological characteristics of and counseling for carriers of structural chromosome abnormalities.

Infertility as a psychological problem has gained increasing attention. Male partners among infertile couples have elevated levels of psychological distress, which could affect semen quality, result in hormonal abnormalities, and increase the occurrence of early miscarriage. Infertile women are more vulnerable to psychological distress and require psychological support. Subfertile women who conceive after assisted reproduction have higher stress, anxiety, and depression levels. Psychological interventions have been shown to have beneficial effects on infertility patients. However, psychosocial characteristics of carriers of structural chromosome abnormalities have not been studied. We report the characteristics of carriers of structural chromosome abnormalities and their influence on psychological counseling. Seventy-five patients were carriers of reciprocal translocations, 25 carried Robertsonian translocations, 17 carried inversions, 10 carried deletions, and 3 carried isochromosomes. The main clinical characteristics were recurrent spontaneous abortion, oligospermatism, azoospermatism, primary amenorrhea, and fetal death. Self-rating anxiety scale (SAS) and self-rating depression scale (SDS) scores of women with structural chromosome abnormality were significantly higher than those scores of women with normal karyotype. SAS and SDS scores of men with structural chromosome abnormality were significantly higher than those of men with normal karyotype. SAS and SDS scores of women with structural chromosome abnormality were significantly higher than their scores of men with structural chromosome abnormality. Women carriers with structural chromosome abnormality were more vulnerable to psychological distress. Psychosocial counseling for carriers of structural chromosome abnormalities should focus on self-confidence and treatment with assisted reproductive technology.

Sperm quality and DNA damage in men from Jilin Province, China, who are occupationally exposed to ionizing radiation.

Long-term radiation exposure affects human health. Ionizing radiation has long been known to raise the risk of cancer. In addition to high doses of radiation, low-dose ionizing radiation might increase the risk of cardiovascular disease, lens opacity, and some other non-cancerous diseases. Low- and high-dose exposures to ionizing radiation elicit different signaling events at the molecular level, and may involve different response mechanisms. The health risks arising from exposure to low doses of ionizing radiation should be re-evaluated. Health workers exposed to ionizing radiation experience low-dose radiation and have an increased risk of hematological malignancies. Reproductive function is sensitive to changes in the physical environment, including ionizing radiation. However, data is scarce regarding the association between occupational radiation exposure and risk to human fertility. Sperm DNA integrity is a functional parameter of male fertility evaluation. Hence, we aimed to report sperm quality and DNA damage in men from Jilin Province, China, who were occupationally exposed to ionizing radiation. Sperm motility and normal morphology were significantly lower in the exposed compared with the non-exposed men. There was no statistically significant difference in sperm concentration between exposed and non-exposed men. The sperm DNA fragmentation index was significantly higher in the exposed than the non-exposed men. Chronic long-term exposure to low doses of ionizing radiation could affect sperm motility, normal morphology, and the sperm DNA fragmentation index in the Chinese population. Sperm quality and DNA integrity are functional parameters that could be used to evaluate occupational exposure to ionizing radiation.

Influence of suppression of CapG gene expression by siRNA on the growth and metastasis of human prostate cancer cells.

This study investigated CapG gene expression in prostate cancer cell lines; in addition, we explored the effects of CapG suppression on DU145 cell growth, and the underlying mechanism with which CapG affects DU145 cell growth and invasiveness. The expression of CapG and 18 related genes in DU145 cells was analyzed by flow cytometry, quantitative polymerase chain reaction (qPCR), CCK8 assay, western blot, and the trans-well assay. DU145 cells were transfected with designed small interfering RNA (siRNA). CapG expression was quantified by qPCR and western blot. DU145 cell proliferation and invasiveness was analyzed using the CCK8, flow cytometric, and trans-well assays. CapG, TMPRSS1, EGFR, ETS-1, ERBB2, AKT, Cyclin D1, P21, Bcl-2, and Bak1 gene and Bcl-2, Cyclin D1, and CapG protein expressions were significantly lower in the siRNA group compared to the negative control group (P < 0.05). The proliferation of CapG siRNA DU145 cells was lower than that of the two control groups, 48 h after transfection. The cell inhibition rate was 24.5, 35.4, and 16,5% at 24, 48, and 72 h, respectively. The growth curve indicated that CapG siRNA DU145 cells showed a significantly slower proliferation rate (P < 0.05). The trans-well assay showed a significant decrease in the migratory and invasive capacities of DU145 cells in the siRNA group (P < 0.05). The suppression of CapG expression caused a significant decrease in the proliferation, invasiveness, and metastasis of DU145 cells. The mechanism with which CapG, with other oncogenes, influences cancer cell cycle remains to be elucidated.