DNA linkage based diagnosis of Wilson disease in asymptomatic siblings

Wilson disease (WD) is an autosomal recessive disorder caused by defects in ATP7B gene located in chromosome 13q14, and manifested as hepatolenticular degeneration as a result of accumulation of copper. No information on the mutation in the ATP7B gene and haplotypes using linked markers is available for WD patients in India. Hence, the present study was undetaken to identify, by a PCR-based molecular diagnostic test, presymptomatic siblings of WD affected individuals in families with multiple offspring. Methods: Genomic DNA was prepared from the peripheral blood of the patients, siblings and his/her first degree relatives. The repeat-markers flanking WD locus were amplified by PCR using fluorescent labeled primers. Amplified DNA fragments were analyzed by polyacrylamide gel electrophoresis in ABI 377 DNA sequencing system. Genotypes of the samples were determined using Genescan software. Haplotypes were determined based on segregation of the alleles in the families under study. Results: Among 15 WD affected families with multiple children, 4 cases were identified where younger siblings shared same genotype as the patient at all three markers analyzed. Further, eight different haplotypes were detected in the four patients. Interpretation & conclusion: The siblings of the WD patients carrying the same genotype at the markers linked to WD locus were presymptomatically diagnosed individuals. Presence of eight different haplotypes in the four patients suggested mutational heterogeneity at the WD locus. The test helps clinicians for therapeutic intervention in suspect WD cases by copper chelating agents prior to manifestation of overt clinical symptoms. Key words ATP7B - genotype - haplotype - microsatellite - Wilson disease (WD) is a genetic disorder, which manifests as hepatolenticular degeneration as a result of accumulation of copper in the brain, liver, kidney and cornea due to its deranged biliary excretion1. In 1912, a WD was described as a familial syndrome of progressive lenticular degeneration associated with cirrhosis of the liver2. The etiological role of copper in the pathogenesis of WD was recognized much late

Using appropriate body mass index cut points for overweight and obesity among Asian Americans

Objective. Asian Americans have low prevalence of overweight/obesity based on standard BMI cut points yet have higher rates of diabetes. We examined the prevalence of overweight/obesity, using lower BMI cut points recommended by the World Health Organization (WHO) for Asians, and diabetes in Asian American subgroups in California. Method. were applied for other groups. Results. Among Asian subgroups, overweight/obesity was highest among Filipinos (78.6%), which was higher than NHWs (p b 0.001) but similar to African Americans and Hispanics. Compared to NHW, diabetes prevalence was higher for Vietnamese, Koreans, Filipinos and South Asians with BMI = 23-24.9 kg/m 2 and Koreans, Filipinos and Japanese with BMI = 27.5-29.9 kg/m 2 , the ranges WHO recommends as overweight or obese for Asians but not for other groups. Conclusions. Filipinos should be a priority population for overweight/obesity screening. Filipinos, Vietnamese, Korean, South Asians and Japanese have higher diabetes prevalence at lower BMI cut points. WHO Asian BMI cut points may have clinical utility to identify at-risk Asian Americans

A Critical Examination and Revisioning of Minority Health Frameworks, Research Methodologies, and Intervention Models Addressing South Asian American Health Disparities

Public health focuses on promoting health and preventing disease at the population level. More recently, the enterprise of public health in the United States has emphasized the importance of understanding and eliminating disparities in health indicators among racial and ethnic minority populations. Federal surveillance systems often aggregate all ethnic groups originating from Asia into a singular category, despite tremendous diversity of cultural features, demographic characteristics, and historical patterns of migration in the United States. Moreover, mainstream institutions have deemed members of this ethnic community as a "model minority" and as such, not a high priority for public health and social service endeavors. This is especially true for the South Asian community--individuals with origins from Bangladesh, Bhutan, India, Nepal, Pakistan, Sri Lanka, and other areas of the Diaspora--for which a lack of attention on health prospects is evident within the field of public health. In addition, much of this positive ascription is internalized by community members and, as a result, public concern about issues of health and social inequities are often absent. This is despite evidence of disparities in adverse outcomes pertaining to cardiovascular disease, cancer, and specific forms of violence, among other disparities.With these considerations in mind, the objectives of this dissertation are to: (1) examine multilevel (e.g., social, cultural, organizational, behavioral) influences on understanding and addressing disparities of tobacco-related disease and violence among South Asians in the United States; (2) elucidate considerations for conducting health disparities research and/or implementing targeted intervention strategies among South Asian American communities; (3) assess the ability of culturally-oriented and/or community-based minority health frameworks to adequately identify and impact the health and well-being of South Asian populations in the United States.To accomplish these objectives, the dissertation is comprised of two qualitative studies which examine the cultural context of tobacco use and the organization response to specific forms of violence among South Asians in the United States. The first study elucidates unique considerations in conducting health surveillance research measuring the prevalence and impact of culturally-valued behaviors strongly associated with preventable conditions. The second study examines how organizations--individually and collectively--respond to stigmatized yet preserved patterns of behavior which have adverse health and social consequences. By focusing on existing disparities, these studies highlight directions for more nuanced research and identify multiple targets for intervention for current issues of public health concern. Concurrently, study findings provide insight into areas where contemporary minority health frameworks may benefit from critical reflection, revision, and expansion.Study results indicate that cultural values and social position are key determinants of knowledge, at-risk behavior, and preservation of normative structures associated with disproportionate indices of poor health. Situational identity and a reluctance to associate with disenfranchised minority populations seem to supersede awareness and articulation of health and social consequences related to behavior and prospects of community well-being. These patterns are pivotal in enhancing modalities of public health research and practice in understanding and addressing excess burdens of illness and injury in this rapidly-growing minority population. Moreover, public health frameworks focusing on minority populations don't often account for these unique considerations as they pertain to cultural identity, social position, and ethnic distinction.Dissertation study findings and analyses demonstrate a necessity for heightened attention to creating surveillance measures which adequately and accurately assess culturally-specific contexts of behavior. They also highlight the complexities of designing and implementing strategies--in the absence of prescriptive approaches--which target cultural norms as a primary determinant. By understanding and incorporating these considerations in research and practice, public health endeavors may achieve more success in its worthy goal of eliminating racial and ethnic disparities. Furthermore, these studies may also highlight conceptual and practical attributes which have considerable overlap with other emergent populations. Commitment to an ongoing awareness and incorporation of dynamic cultural contexts--especially among understudied populations--will enable the field of public health to truly have a significant impact on all communities which depend on its success

A Critical Examination and Revisioning of Minority Health Frameworks, Research Methodologies, and Intervention Models Addressing South Asian American Health Disparities

Public health focuses on promoting health and preventing disease at the population level. More recently, the enterprise of public health in the United States has emphasized the importance of understanding and eliminating disparities in health indicators among racial and ethnic minority populations. Federal surveillance systems often aggregate all ethnic groups originating from Asia into a singular category, despite tremendous diversity of cultural features, demographic characteristics, and historical patterns of migration in the United States. Moreover, mainstream institutions have deemed members of this ethnic community as a "model minority" and as such, not a high priority for public health and social service endeavors. This is especially true for the South Asian community—individuals with origins from Bangladesh, Bhutan, India, Nepal, Pakistan, Sri Lanka, and other areas of the Diaspora—for which a lack of attention on health prospects is evident within the field of public health. In addition, much of this positive ascription is internalized by community members and, as a result, public concern about issues of health and social inequities are often absent. This is despite evidence of disparities in adverse outcomes pertaining to cardiovascular disease, cancer, and specific forms of violence, among other disparities. With these considerations in mind, the objectives of this dissertation are to: (1) examine multilevel (e.g., social, cultural, organizational, behavioral) influences on understanding and addressing disparities of tobacco-related disease and violence among South Asians in the United States; (2) elucidate considerations for conducting health disparities research and/or implementing targeted intervention strategies among South Asian American communities; (3) assess the ability of culturally-oriented and/or community-based minority health frameworks to adequately identify and impact the health and well-being of South Asian populations in the United States. To accomplish these objectives, the dissertation is comprised of two qualitative studies which examine the cultural context of tobacco use and the organization response to specific forms of violence among South Asians in the United States. The first study elucidates unique considerations in conducting health surveillance research measuring the prevalence and impact of culturally-valued behaviors strongly associated with preventable conditions. The second study examines how organizations—individually and collectively—respond to stigmatized yet preserved patterns of behavior which have adverse health and social consequences. By focusing on existing disparities, these studies highlight directions for more nuanced research and identify multiple targets for intervention for current issues of public health concern. Concurrently, study findings provide insight into areas where contemporary minority health frameworks may benefit from critical reflection, revision, and expansion. Study results indicate that cultural values and social position are key determinants of knowledge, at-risk behavior, and preservation of normative structures associated with disproportionate indices of poor health. Situational identity and a reluctance to associate with disenfranchised minority populations seem to supersede awareness and articulation of health and social consequences related to behavior and prospects of community well-being. These patterns are pivotal in enhancing modalities of public health research and practice in understanding and addressing excess burdens of illness and injury in this rapidly-growing minority population. Moreover, public health frameworks focusing on minority populations don't often account for these unique considerations as they pertain to cultural identity, social position, and ethnic distinction. Dissertation study findings and analyses demonstrate a necessity for heightened attention to creating surveillance measures which adequately and accurately assess culturally-specific contexts of behavior. They also highlight the complexities of designing and implementing strategies—in the absence of prescriptive approaches—which target cultural norms as a primary determinant. By understanding and incorporating these considerations in research and practice, public health endeavors may achieve more success in its worthy goal of eliminating racial and ethnic disparities. Furthermore, these studies may also highlight conceptual and practical attributes which have considerable overlap with other emergent populations. Commitment to an ongoing awareness and incorporation of dynamic cultural contexts—especially among understudied populations—will enable the field of public health to truly have a significant impact on all communities which depend on its success