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Background: Tobacco dependence, alcohol abuse, depression, distress, and other adverse patient-level influences are common in head and neck cancer (HNC) survivors. Their interrelatedness and precise burden in comparison with survivors of other cancers are poorly understood., Methods: National Health Interview Survey data from 1997 to 2016 were pooled. The prevalence of adverse patient-level influences among HNC survivors and matched survivors of other cancers were compared using descriptive statistics. Multivariable logistic regressions evaluating covariate associations with the primary study outcomes were performed. These included 1) current cigarette smoking and/or heavy alcohol use (>14 drinks per week) and 2) high mental health burden (severe psychological distress [Kessler Index ≥ 13] and/or frequent depressive/anxiety symptoms)., Results: In all, 918 HNC survivors and 3672 matched survivors of other cancers were identified. Compared with other cancer survivors, more HNC survivors were current smokers and/or heavy drinkers (24.6% [95% CI, 21.5%-27.7%] vs 18.0% [95% CI, 16.6%-19.4%]) and exhibited a high mental health burden (18.6% [95% CI, 15.7%-21.5%] vs 13.0% [95% CI, 11.7%-14.3%]). In multivariable analyses, 1) a high mental health burden predicted for smoking and/or heavy drinking (odds ratio [OR], 1.4; 95% CI, 1.0-1.9), and 2) current cigarette smoking predicted for a high mental health burden (OR, 1.7; 95% CI, 1.2-2.3). Furthermore, nonpartnered marital status and uninsured/Medicaid insurance status were significantly associated with both cigarette smoking and/or heavy alcohol use (ORs, 1.9 [95% CI, 1.4-2.5] and 1.5 [95% CI, 1.0-2.1], respectively) and a high mental health burden (ORs, 1.4 [95% CI, 1.1 -1.8] and 3.0 [95% CI, 2.2-4.2], respectively)., Conclusions: Stakeholders should allocate greater supportive care resources to HNC survivors. The interdependence of substance abuse, adverse mental health symptoms, and other adverse patient-level influences requires development of novel, multimodal survivorship care interventions., (© 2021 American Cancer Society.)

The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pre-Conference Workshop held at the 11th Asia-Pacific Conference on Human Genetics in Hanoi, Viet Nam, September 16, 2015. The pre-conference workshop provided an opportunity for medical geneticists and genetic counselors from across 10 Asia Pacific countries to learn about the varied genetic counseling practices and strategies for genetic counseling training. This paper provides an overview of the current status and challenges in these countries, and proposed course of unified actions for the future of the genetic counseling profession.

Lead has been linked to the development of hypertension via oxidative stress. Catalase plays an important role in the disposal of hydrogen peroxide in erythrocyte and its activity was determined by CAT gene. The aims of this study were to investigate (1) the association between blood levels of antioxidant markers such as catalase, superoxide dismutase, glutathione, glutathione peroxidase, oxidative stress-marker (malondialdehyde), and blood lead level and (2) the influence of genetic polymorphism of CAT gene (rs769217) on change in blood pressure in general population of EGAT study project. This is a cross-sectional study of 332 normotensive, 432 prehypertensive, and 222 hypertensive male subjects. Hypertensive subjects had significantly higher blood lead level (5.28 μg/dL) compared to normotensive (4.41 μg/dL) and prehypertensive (4.55 μg/dL) subjects (P < 0.05). These significant findings are also found in MDA levels. Moreover, individuals with TT genotype in hypertensive group had significantly higher blood lead and MDA levels (6.06 μg/dL and 9.67 μmol/L) than those with CC genotype (5.32 μg/dL and 8.31 μmol/L, P < 0.05). Our findings suggested that decreased blood catalase activity in this polymorphism together with low level lead exposure induced lipid peroxidation may be responsible for hypertension.

A number of studies suggested that lead is related to the induction of oxidative stress, and alteration of immune response. In addition, modifying these toxic effects varied partly by GST polymorphism. The objectives of this study were to assess the association between the lead-induced alteration in serum hs-CRP, with GSTM1, GSTT1, and GSTP1 Val105Ile genetic variations and the health consequence from environmental lead exposure. The 924 blood samples were analyzed for blood lead, CRP, and genotyping of three genes with real-time PCR. Means of blood lead and serum hs-CRP were 5.45 μ g/dL and 2.07 mg/L. Both CRP and systolic blood pressure levels were significantly higher for individuals with blood lead in quartile 4 (6.48-24.63 μ g/dL) compared with those in quartile 1 (1.23-3.47 μ g/dL, P < 0.01). In particular, in men with blood lead >6.47 μ g/dL the adjusted odds ratio (OR) of CRP levels for individuals with GSTP1 variants allele, GSTM1 null, GSTT1 null, double-null GSTM1, and GSTT1 compared with wild-type allele was 1.46 (95% CI; 1.05-2.20), 1.32 (95% CI; 1.03-1.69), 1.65 (95% CI; 1.17-2.35), and 1.98 (95% CI; 1.47-2.55), respectively. Our findings suggested that lead exposure is associated with adverse changes in inflammatory marker and SBP. GST polymorphisms are among the genetic determinants related to lead-induced inflammatory response.

Background: Duchenne muscular dystrophy (DMD), a lethal X-linked disease affecting 1 in 3500 male births, and its more benign variant, Becker muscular dystrophy (BMD), are caused by mutations in the dystrophin gene. Because of its large size, analysing the whole gene is impractical. Methods have been developed to detect the commonest mutations i.e. the deletions of the exons. Although these tests are highly specific, their sensitivity is inherently limited by the prevalence of deletions, which differs among different populations., Methods: We reviewed our database for the detection of Dystrophin gene mutation by means of 31-exon multiplex PCR in Thai males, diagnosed clinically and biochemically with DMD or BMD from July 1994 to November 2006. One index patient was chosen from each family for statistical analysis. The overall sensitivity of the test, the number of fragment deleted, and the deletion frequency of each fragment were calculated, along with their 95% confidence intervals (C.I.)., Results: We found deletions in 99 out of the 202 index patients (49%; Bayesian 95% C.I.=42%-56%). 51% of these had deletion in only one of the 31 exons tested, while the patient with the most extensive deletions had 14 exons deleted. The mean number of deleted exons were 2.84 (BC(a) bootstrap 95% C.I.=2.37-3.48), or 5.02 (3.81-6.85) if all the untested exons adjacent to the confirmed deleted exons were assumed to be deleted. The region spanning exons 44-52 was the most frequently deleted. These were similar to those reported in the Japanese., Conclusion: The multiplex PCR detected deletions only in about half of the Thai patients. The diseases therefore should not be excluded solely on the negative result if DMD/BMD is strongly suspected.