The diffusion of a mass genetic screening programme

1978 ◽  
Vol 10 (3) ◽  
pp. 287-297
Author(s):  
David V. McQueen
Keyword(s):  
Genetic Screening ◽  
Metropolitan Areas ◽  
Screening Programme ◽  
Genetic Disorder ◽  
Diffusion Of Knowledge ◽  
Tay Sachs Disease ◽  
Two Populations ◽  
Jewish Populations

SummaryThis paper reports the diffusion of knowledge of screening for a genetic disorder (Tay–Sachs disease) in two fairly well defined, urban, Jewish populations in the Baltimore and Washington metropolitan areas, and on some of the sociological variables which influence the diffusion. Differences between the two populations are shown.

Article on Tay-Sachs Disease

2021 ◽  
pp. 475-478
Author(s):  
Bhawana. B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Defect ◽  
Premature Death ◽  
Nerve Cells ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Physical Abilities ◽  
The Brain

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

scholarly journals Prenatal Genetic Screening and Potential Complicity in Abortion: Considerations for Catholic Health Care

2019 ◽  
Vol 87 (2) ◽  
pp. 206-217
Author(s):  
Carolyn A. Laabs
Keyword(s):  
Health Care ◽  
Down Syndrome ◽  
Genetic Screening ◽  
Genetic Disorder ◽  
Diagnostic Testing ◽  
First Trimester ◽  
The United States ◽  
Persons With Disabilities ◽  
Prenatal Diagnostic ◽  
Catholic Health Care

Prenatal genetic screening (PGS) is commonplace in the United States and in some parts of the world. The commonly held rationale for screening is to respect patient autonomy and to either allow the mother the opportunity to prepare herself to parent a child with a genetic disorder or to abort. As a result, PGS combined with prenatal diagnostic testing followed by abortion has significantly reduced the number of babies born with Down syndrome, for example, and, furthermore, has raised concerns about discrimination against persons with disabilities and eugenics. Although Catholic teaching clearly prohibits PGS and testing when undertaken with the intention of abortion, screening routinely is performed in Catholic health care, sometimes without regard to intent. This essay explores the issue of PGS in Catholic health care and suggests the development of a policy designed to support morally legitimate use of screening through an educational and informed consent process and attestation as to intent so as to prevent abortion or at least avoid complicity in it. Although the issue applies to prenatal testing as well as screening and for a variety of disorders as well as gender, this essay limits itself to a discussion of first trimester screening and a focus on Down syndrome. Objections to such a policy are discussed.

scholarly journals Profile of physiotherapy intervention for Down syndrome children

2016 ◽  
Vol 29 (4) ◽  
pp. 693-701 ◽  
Author(s):  
Késia Damascena Winter de Morais ◽  
Geraldo Antonio Fiamenghi-Jr ◽  
Denise Campos ◽  
Silvana Maria Blascovi-Assis
Keyword(s):  
Down Syndrome ◽  
Motor Skills ◽  
Neural Plasticity ◽  
Metropolitan Areas ◽  
Genetic Disorder ◽  
The Internet ◽  
Structured Interviews ◽  
Physiotherapy Intervention ◽  
Specialized Institutions ◽  
Function Language

Abstract Introduction: Down Syndrome (DS) is a genetic disorder that causes global delay in development, including motor function, language and cognitive. Physiotherapy is offered from birth in order to stimulate the acquisition of motor skills. Early intervention presents most benefits, as neural plasticity is at its peak in the first months of life. Objective: This study aimed to investigate the profile of physiotherapy intervention for children with DS during their first three years in specialized institutions. Methods: Data for this qualitative study were collected through semi-structured interviews, with 11 physiotherapists who worked in São Paulo coastal and metropolitan areas. Results: Results indicate that, although most professionals use the internet as a means to being up-to-date, and doing specialized courses, not always in pediatric neurology, they felt safe to work in the area shortly after graduation, using the principles of Bobath Concept, characterized by 30-minute therapies, with a frequency of once to twice per week to guide treatment. Conclusion: Data should serve as a basis for parents' reflections, who must seek to know the experience of therapists who attend to their children, as well as institutions to encourage professionals to update their knowledge and search for appropriate expertise, in order to optimize therapy.

scholarly journals Detection of Pitt–Hopkins Syndrome Based on Morphological Facial Features

2021 ◽  
Vol 11 (24) ◽  
pp. 12086
Author(s):  
Elena D’Amato ◽  
Constantino Carlos Reyes-Aldasoro ◽  
Arianna Consiglio ◽  
Gabriele D’Amato ◽  
Maria Felicia Faienza ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Recognition Rate ◽  
Initial Approximation ◽  
Gradient Boosting ◽  
Facial Features ◽  
Geometric Features ◽  
Relative Width ◽  
Healthy Controls ◽  
Histograms Of Oriented Gradients ◽  
Two Populations

This work describes a non-invasive, automated software framework to discriminate between individuals with a genetic disorder, Pitt–Hopkins syndrome (PTHS), and healthy individuals through the identification of morphological facial features. The input data consist of frontal facial photographs in which faces are located using histograms of oriented gradients feature descriptors. Pre-processing steps include color normalization and enhancement, scaling down, rotation, and cropping of pictures to produce a series of images of faces with consistent dimensions. Sixty-eight facial landmarks are automatically located on each face through a cascade of regression functions learnt via gradient boosting to estimate the shape from an initial approximation. The intensities of a sparse set of pixels indexed relative to this initial estimate are used to determine the landmarks. A set of carefully selected geometric features, for example, the relative width of the mouth or angle of the nose, is extracted from the landmarks. The features are used to investigate the statistical differences between the two populations of PTHS and healthy controls. The methodology was tested on 71 individuals with PTHS and 55 healthy controls. The software was able to classify individuals with an accuracy rate of 91%, while pediatricians achieved a recognition rate of 74%. Two geometric features related to the nose and mouth showed significant statistical difference between the two populations.

Knowledge About and Attitudes Toward Genetic Screening Among High-School Students: The Tay-Sachs Experience

PEDIATRICS ◽  
1977 ◽  
Vol 59 (1) ◽  
pp. 86-91 ◽  
Author(s):  
Carol L. Clow ◽  
Charles R. Scriver
Keyword(s):  
High School ◽  
High School Students ◽  
Genetic Screening ◽  
Human Genetics ◽  
Participation Rate ◽  
School Students ◽  
Public Issues ◽  
Knowledge And Attitudes ◽  
Tay Sachs Disease ◽  
Jewish Students

High-school students (ages 15 to 18 years; No. = 930) taking biology in their curriculum were surveyed (the first survey), in the classroom, for their knowledge and attitudes about Tay-Sachs disease and other "public" issues in genetics. High-school students now constitute 38.9% of those screened for the Tay-Sachs gene in the Montreal program and the participation rate is 75% among eligible Jewish students. Knowledge and attitudes about the screening experience were also surveyed (the second survey) in a sample (No. = 120) containing equal numbers of carriers and noncarriers matched for sex and age. The response rate was 75% in the second survey. The first survey revealed that the level of knowledge about Tay-Sachs disease is high among students, only 28% percent of whom were Jewish. Students have a very positive attitude toward genetic screening in general. These findings are associated with an effort to expand the human genetics content in the biology curriculum. The second survey revealed a favorable attitude toward the screening experience and the self-knowledge obtained among screened students. The screening clinic in the schools, and literature provided by the screening authority, was an effective source of knowledge about the significance of Tay-Sachs heterozygosity. Carriers experienced initial anxiety; later attitudes were similar in carrier and noncarriers. Self-image was unchanged in 90% and diminished in 10% of carriers and enhanced in 10% of noncarriers. Heterozygous students perceive information about their genetic status as useful to themselves and 95% want to know the genotype of an intended spouse; 88.4% would marry a carrier and only 11.6% would "reconsider." These findings encourage us to emphasise high-school screening as the preferred program in our community and to offer it as an effective aid to the physician faced with increasing demands in medical genetics. It is also an effective model for teaching some genetics and human biology in the schools.

Cystic echinococcosis in Southern Israel

2016 ◽  
Vol 61 (1) ◽  
Author(s):  
Shalom Ben-Shimol ◽  
Orli Sagi ◽  
Ohad Houri ◽  
Elina Bazarsky ◽  
Anat Berkowitz ◽  
...  
Keyword(s):  
Cystic Echinococcosis ◽  
Population Based ◽  
Newly Diagnosed ◽  
Prevention Strategies ◽  
Population Based Study ◽  
X Ray ◽  
Treatment And Prevention ◽  
Two Populations ◽  
Asymptomatic Disease ◽  
Jewish Populations

AbstractThe aim of this retrospective, population-based study was to characterize demographically and clinically cystic-echinococcosis (CE) in southern Israel, between 2005 and 2012. Newly-diagnosed (nd-CE) and past-diagnosed (pd-CE, diagnosed before the study) cases were defined. Two populations live in southern-Israel, receiving medical treatment at a single hospital: the Jewish and the Bedouin populations (resembling resource-rich and resource-poor populations, respectively). 126 CE cases were identified; 55 nd-CE and 71 pd-CE. Mean annual nd-CE incidence per 100,000 in the Bedouin and Jewish populations were 2.7 ± 1.2 and 0.4 ± 0.3, respectively (P<0.001). None of the Bedouin and 86.5% of the Jewish patients were born outside Israel. Liver and lung involvement were recorded in 85.7% and 15.1% of overall-CE, respectively. Abdominal pain, cough, fever, eosinophilia and asymptomatic disease were documented in 63.6%, 32.7%, 27.3%, 41.5% and 12.7% of nd-CE, respectively. Serology sensitivity for first test and any positive test were 67.3% and 83.3%, respectively. Computed tomography, ultrasonography and X-ray diagnosis were documented in 79.2%, 58.4% and 17.0% of overall-CE, respectively, with ultrasonography mainly used in liver-CE and X-ray in lung-CE. Treatment included surgery and albendazole in 50.0% and 55.3% of CE, respectively. We conclude that CE is endemic in southern-Israel among the Bedouin population, while disease is probably mainly imported in the Jewish population. Liver involvement and eosinophilia rates were high compared with those of other endemic regions, possibly due to differences in the timing of diagnosis. These findings may help developing treatment and prevention strategies.

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

2017 ◽  
Vol 100 (3) ◽  
pp. 244-249 ◽  
Author(s):  
Gretl Hendrickx ◽  
Eveline Boudin ◽  
Ellen Steenackers ◽  
Torben Leo Nielsen ◽  
Marianne Andersen ◽  
...  
Keyword(s):  
Bone Mineral ◽  
Genetic Screening ◽  
Two Populations
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