A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability

We characterized the chromosomal aberration in family with intellectual disability, including two affected children and their affected mother. Initial standard karyotypes of the three individuals showed an apparently balanced translocation of chromosomes 8 and 20. Using molecular cytogenetic techniques, we observed complex structural chromosomal aberration comprising of reciprocal translocation between chromosomes 8 and 20 with pericentric inversion (8p11.12q22.3) and insertion of chromosome 4 segments into both der(8) and der(20). In particular, the insertion of chromosome 4 was complex. Two segments (4q13.2-q13.3 and 4q21.21-q22.1) were inserted into the der(8)t(8;20) breakpoint and one segment (4q13.3-q21.21) into the der(20)t(8;20) breakpoint. Both children inherited two normal chromosomes 4 from their parents and the der(8) and der(20) from the mother, resulting in partial trisomy of 4q13.2-q22.1. Interestingly, the mother, in addition to the same complex insertions and inversion, was founded to have a deletion of 4q13.2-q22.1 in one of her chromosomes 4, yielding no genetic imbalance but with potential disruption of intellectual dysfunction-related gene(s) at the breakpoints as the cause of her intellectual impairment. This family is the third case report of an insertional translocation mechanism causing partial trisomy 4q syndrome. Our study demonstrates that an insertion of an extra chromosomal segment, not primarily involving in translocation breakpoints, which results in partial trisomy, can be an unapparent cause of the abnormal phenotypes.     

Feelings of Abandonment and Quality of Life Among Older Persons in Rural Northeast Thailand

The purpose of this study was to determine the extent to which older persons in rural Northeast Thailand felt abandoned by the emigration of their children and the impact this may have on their quality of life. A cross sectional survey, consisting of 113 questions including the 26-item WHOQOL-BREF and the 24-item WHOQOL-OLD was administered to 212 participants. Participants ranged in age from 60 to 107 with a mean age of 71. While only 9% were found to live alone, 20% stated that they felt abandoned to some degree. A one-way between groups MANOVA was conducted to determine if those who felt abandoned differed from those who did not on a single-item question of Overall QOL and the total scores for the WHOQOL-BREF and WHOQOL-OLD. A statistically significant difference was found between the groups on the combined dependent variable [F (3, 208) = 4.75, p = .003; Wilks’ Lambda = .94]. When the results for each of the dependent variables were considered separately, statistically significant differences were found on the WHOQOL-BREF [F (1, 210) = 13.61, p < .001] and the WHOQOL-OLD [F (1, 210) = 9.85, p = .001] only.     

HIV communication between husbands and wives: effects on husband HIV testing in northern Thailand

In northern Thailand, where substantial male-to-female transmission of HIV has occurred in stable partnerships, the relationships between counseling, communication, and HIV-preventive behaviors in married couples have not been well studied. In a study of HIV incidence among women in northern Thailand, each participant was advised to learn her husband's HIV-infection status and was asked to bring him for an interview at the final 12-month follow-up visit. Of the 337 men interviewed, 58% reported having ever had an HIV test. More men reported testing following their wives' enrollment: 12% in the year prior to enrollment vs 22% during the 1-year study (p < 0.001). In the univariate analysis, men's HIV testing during the 6 months before being interviewed was associated with communication about HIV testing with their wife and extra marital sex with non-FSW while married. Testing following their wife's request was the most common reason reported. Agreement between husband's and wife's reports was poor for most issues, such as whether HIV-related communication had occurred, but agreement as to whether the husband had ever been tested for HIV was relatively high (kappa = 0.62). However, in the logistic regression analysis, only sex with non-FSW while married remained associated with HIV testing (p = 0.02). The results suggest a relationship between counseling, communication, and husband HIV testing. Better communication by couples may result in more effective use of HIV testing, which is already prevalent in this population, to prevent HIV transmission.     

Reliability of a computerized system for strabismus screening

AIM: To evaluate the reliability of Photo-Hirschberg screening for global strabismus performed by non-specialized personnel. METHODS: Participants at three sites were enrolled. One person at each site was trained in visual acuity measurement and use of the computerized system. Visual acuity was measured, and strabismus testing was performed using two flash photographs. All data from the three primary observers were sent to an experienced assistant researcher, who was blinded to the primary results, for re-evaluation. The primary and re-evaluation results of the Photo-Hirschberg screenings using weighted kappa for agreement were compared. RESULTS: The study included 181 participants (88 males and 93 females) and the results for primary and re-evaluation screenings were corresponded. Ten participants with contrasting results presented with unclear corneal light reflex. Sensitivity and specificity were 100% [95% confidence interval (CI): 29.0%–100%] and 99.4% (95%CI: 96.6%–100%), respectively, based on the Agresti test of the primary evaluation, considering the re-evaluated classification as true. CONCLUSION: The computerized system can be used for primary strabismus screening by non-specialized personnel, with 98.8% agreement with specialists. However, it cannot be used as a substitute for professional examination.