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Biomedical subjects

V B Penchaszadeh

Publications and source records attributed to V B Penchaszadeh.

At least 19 recordsLinked to original sources
PubMed2001

Informed consent for population-based research involving genetics.

Bridging the gap between gene discovery and our ability to use genetic information to benefit health requires population-based knowledge about the contribution of common gene variants and gene-environment interactions to the risk of disease. The risks and benefits associated with population-based research involving genetics, especially lower-penetrance gene variants, can differ in nature from those associated with family-based research. In response to the urgent need for appropriate guidelines, the Centers for Disease Control and Prevention formed a multidisciplinary group to develop an informed consent approach for integrating genetic variation into population-based research. The group used expert opinion and federal regulations, the National Bioethics Advisory Commission's report on research involving human biological materials, existing consent forms, and literature on informed consent to create suggested language for informed consent documents and a supplemental brochure. This language reflects the premise that the probability and magnitude of harm, as well as possible personal benefits, are directly related to the meaning of the results for the health of the participant and that appropriate disclosures and processes for obtaining consent should be based on an assessment at the outset of the likelihood that the results will generate information that could lead directly to an evidence-based intervention. This informed consent approach is proposed to promote discussion about how best to enable potential participants to make informed decisions about population-based research involving genetics and to suggest issues for consideration by research sponsors, institutional review boards, and investigators.

DNA↗
PubMed2001

Genetic counseling issues in Latinos.

Close to 12% (33 million) of the U.S. population is of Latino ethnocultural background, and it is estimated by the year 2005 they will become the largest ethnic minority. This article describes the demographic, social, economic, and cultural characteristics of the Latino population in the United States. Main health problems of Latinos and barriers to access to equitable health care are described. Health beliefs of relevance in the provision of health care in general, and of genetic counseling in particular, are reviewed. Some key nuances of genetic counseling to Latinos are discussed, such as the problems of language and other pitfalls in communication, the role of nondirectiveness in Latino culture, the medicalization of pregnancy, the language of prospective risks, and the meaning of disability. To provide culturally appropriate genetic counseling to Latinos, genetic professionals must be conversant with their personal and social history, culture, and traditions. At the same time, cultural stereotyping must be avoided, as the individuality of each patient must be recognized, acknowledged and respected.

Attitude to Health↗
PubMed1998

Genetic services to the latino population in the United States.

In 1998 Latinos (Hispanics) in the United States number 30 million persons and account for 11.3% of the total population, while it is predicted that by the year 2020 they will become the largest minority. This article describes the demographics and health profile of the Latino population in the United States. A brief account is given of common cultural traditions and health beliefs that modulate the interaction of this population with the health delivery system in general, and that of genetic services in particular. Further, some problems in the access to, and utilization of genetic services are outlined, and the experience of a project designed to overcome those problems in New York City is described.

Journal Article↗
PubMed1997

Genetic identification of children of the disappeared in Argentina.

During the military dictatorship that ruled Argentina between 1976 and 1983, the security forces engaged in well-planned repression that included the abduction, torture, and disappearance of thousands of dissidents. Repression spared neither children nor pregnant women. Approximately 220 babies and children of the disappeared victims were abducted and kept mostly by families with connections with the military. After the restoration of democracy, attempts to find and identify the missing children were made, with the goal of restoring their personal and familial identities and returning them to their surviving relatives. The Association of Grandmothers of Plaza de Mayo and a number of geneticists who developed and applied methods of genetic identification to this human rights cause were instrumental in this quest. Initial use of histocompatibility (HLA) typing for genetic identification was later followed by nuclear DNA typing and mitochondrial DNA sequencing. Of 56 children found and identified, 30 were returned to their legitimate families, 13 remained with the families who had adopted them in good faith, 6 are still the subject of custody litigation in the courts, and 7 were found dead. Psychological and ethical guidelines protecting the best interests of the children were followed in all proceedings.

Argentina↗
PubMed1994

Genetics and public health.

Worldwide, genetic diseases affect no less than 5% of all newborns. Most are caused by altered genes transmitted at conception, while a lesser share are due to chromosomal abnormalities--quantitative imbalances in the genetic material leading to various disorders including Down syndrome. The impact of these pathologies is especially severe because they are typically chronic, often affect more than one child in a family, and commonly demand expensive or inaccessible therapeutic methods. Current trends indicate that the demand for health services dealing with these and other congenital defects in Latin America will continue to grow, making it imperative that health plans include strategies for providing appropriate services. The steps called for in seeking to provide such services are as follows: (1) clearly define the aims of the genetic health program; (2) assess, organize, and distribute the available human and material resources; (3) plan and implement primary care activities designed to detect genetic risk factors, and see that these are integrated into all relevant programs (family planning, prenatal care, etc.); (4) organize a referral network for complex diagnostic studies, genetic counseling, treatment, and rehabilitation; (5) encourage close collaboration between health planners and medical geneticists on education and health activities; (6) provide genetic health training programs for primary health care personnel; (7) develop genetic health education programs for the general public; and (8) adopt standardized procedures for supervising and evaluating these various activities and their results. By means of such strategies it has already been possible to considerably reduce morbidity and mortality caused by genetic problems in various parts of the world, including a number of developing countries.

Congenital Abnormalities↗
PubMed1993

[Genetics and public health].

In order to draw attention to the need for public health action in genetics in Latin America, the author begins by giving a brief review of congenital anomalies, including hereditary diseases and chromosomal anomalies. He notes that these defects affect at least 5% of live births in the different regions of the world, regardless of the development status or ethnic make-up of their populations. In the Region of the Americas, birth defects rank somewhere between second and fifth place among causes of death in children under 1 year of age, and account for 2% to 27% of infant mortality. It is logical to expect that these disorders will take on more relative importance as the general indicators of child health improve, as has been the case in industrialized countries. The fact that pathologies of genetic origin affect a wide range of organs and systems, are chronic, and require expensive therapy and rehabilitation means that they demand services that countries must be prepared to provide. The author proposes three general objectives for health activities regarding genetics: to minimize clinical manifestations in individuals who are born with congenital anomalies by means of adequate care at all service levels; to improve the quality of life for those individuals and their families by helping them to become involved in the normal life of their communities; and to ensure that people at high risk of conceiving children with genetic diseases receive counseling and support services so that they can exercise their right to informed reproduction. Finally, he recommends eight strategies for setting up genetic health programs with the resources available in each country.

Congenital Abnormalities↗
PubMed1992

Double mosaic aneuploidy: 45,X/47,XY,+8 in a male infant.

We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.

Aneuploidy↗
PubMed1992

Abduction of children of political dissidents in Argentina and the role of human genetics in their restitution.

Between 1976 and 1983 a brutal military dictatorship governed Argentina. The most basic human rights were severely violated and the method of forced disappearances of approximately 30,000 political dissidents was instituted. In this process, about 300 babies and children of the disappeared victims were also abducted by the military and given to childless families linked to the security forces. Women whose children and grandchildren had disappeared organized themselves as Grandmothers of Plaza de Mayo to search for their missing loved ones. This search was aided by human geneticists from different parts of the world who provided the scientific basis to establish the genetic identification through "grandpaternity testing," and by mental health professionals who provided the psychological theory supporting restitution of appropriated children to their legitimate families. Thus far, close to 50 children have been located, identified and restituted.

Adoption↗
PubMed1989

A new syndrome with distinct facial and auricular malformations and dominant inheritance.

We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.

Abnormalities, Multiple↗
PubMed1987

Interstitial deletion of chromosome 2 (p23p25).

We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.

Abnormalities, Multiple↗