Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 52
Filtrar
1.
Vet Pathol ; 60(1): 133-138, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-35723028

RESUMEN

Hepatic lipidosis is a common disease of captive bearded dragons (Pogona vitticeps). Diagnosis, prevention, and treatment of this condition are challenging, as there is minimal information in the literature. Our study determined the prevalence and epidemiological risk factors associated with the grade and severity of hepatic lipid changes in bearded dragons submitted for necropsy in 2 North American institutions. A total of 571 postmortem cases were retrieved, and from each pathology report the demographic data (age, sex) and the list of final diagnoses were extracted. For each case diagnosed with hepatic lipidosis, the archived sections of liver were reviewed and the severity of lipid change was stratified using a standardized histologic grading system. Descriptive statistics were used to estimate the prevalence of each grade and severity class. Associations between grade and severity, as well as demographic data and concurrent diseases, were explored using ordinal logistic regression analysis. On multiple logistic models, the occurrence of infectious disease and neoplasia was associated with decreased grade and severity of hepatic lipid changes, while the female sex and adult age were associated with an increased grade and severity. None of the other variables were significantly associated with hepatic lipid changes. These results suggest that reproductively active females and adult bearded dragons are predisposed to increasing hepatic lipid changes, while those with an underlying disease process have reduced hepatic lipid accumulation and changes, possibly due to increased fat catabolism. Data in this study can serve to benchmark the prevalence of hepatic lipidosis in bearded dragons and allow further investigations.


Asunto(s)
Lipidosis , Lagartos , Femenino , Animales , Prevalencia , Hígado , Factores de Riesgo , Lipidosis/epidemiología , Lipidosis/veterinaria , Lípidos
2.
Rev. cuba. obstet. ginecol ; 42(1): 0-0, ene.-mar. 2016. tab
Artículo en Español | LILACS | ID: lil-795979

RESUMEN

Introducción: el embarazo es una condición que implica una adaptación metabólica para suplir los requerimientos del feto en desarrollo. Durante la gestación ocurre un aumento de los lípidos circulantes, lo que conlleva a un incremento en la peroxidación lipídica. En condiciones normales, este fenómeno se ve compensado por una elevación en los sistemas antioxidantes. Objetivo: comparar el perfil lipídico en mujeres embarazadas según el índice de masa corporal y la frecuencia de consumo de grasa. Métodos: se estudiaron 100 mujeres en el tercer trimestre de embarazo en el Hospital San Vicente de Paul de la ciudad de Ibarra en la provincia de Imbabura-Ecuador. Se realizó la medición de peso y talla para el cálculo del índice de masa corporal. Se les aplicó una encuesta de consumo de alimentos y tomó una muestra de sangre para medir los niveles de lípidos circulantes mediante métodos enzimáticos colorimétricos. Resultados: se observó un incremento de los lípidos sanguíneos los cuales se relacionan con la frecuencia de consumo de grasas. Hubo una relación entre el HDL-colesterol y el LDL-colesterol con el consumo de grasas según el índice de masa corporal. Conclusiones: durante los controles obstétricos se debe evaluar la dieta de la embarazada y reforzar la necesidad de disminuir el consumo de grasas e incrementar el consumo de verduras, legumbres y cereales. La cuantificación periódica del perfil lipídico de las gestantes constituye una buena herramienta para el control de los lipídicos cuando estos superen los niveles fisiológicos, contribuyendo en un adecuado control prenatal(AU)


Introduction: Pregnancy is a condition that involves a metabolic adaptation to meet the requirements of the developing fetus. During gestation circulating lipids increase, leading to agrowth in lipid peroxidation. Under normal conditions, this phenomenon is offset by an increase in antioxidant systems. Objective: Compare the lipid profile in pregnant women according to body mass index and frequency of fat intake. Methods: A hundred women were studied in their third trimester of pregnancy. Weight and height were measuredto calculate body mass index. A survey on food consumption was appliedand blood samples were taken to measure levels of circulating lipids by enzymatic colorimetric methods. Results: An increase in blood lipids is observedrelated to the frequency of fat consumption. A ratio of HDL-cholesterol and LDL-cholesterol fat intake was found by the body mass index. Conclusions: During controls, obstetricians should evaluate the pregnant diet and reinforce the need to reduce fat intake and increase consumption of vegetables, legumes and cereals. The periodic quantification of the lipid profile of pregnant women is good tool to control lipid when they exceed physiological levels, contributing to an adequate prenatal control(AU)


Asunto(s)
Humanos , Femenino , Embarazo , Tercer Trimestre del Embarazo , Grasas de la Dieta , Índice de Masa Corporal , Lipidosis/epidemiología , Ingestión de Alimentos , Epidemiología Descriptiva , Estudios Transversales , Conducta Alimentaria/fisiología , Hiperlipidemias/prevención & control
3.
J Fish Dis ; 39(1): 87-93, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25589287

RESUMEN

Macroscopically visible lipid deposition varying in size from pinpoint to 8-mm diameter was found in spleens of a population of intensively farmed perch, Perca fluviatilis L. over a 24-month rearing period. Large agglomerates of adipocytes distinguishable from surrounding normal tissue occurred in all individuals with spleen lipidosis. Several affected fish presented total dystrophy of large clusters of hepatocytes. Prevalence of lipidosis was 5.0% at 12 months and 16.6% at 24 months. There was no significant difference between fatty acid profiles of liver or perivisceral fat of perch with and without lipidosis except for linoleic, myristic, γ-linoleic, cis-eicosatrienic, palmitooleic acid. Body weight and hepatosomatic, perivisceral fat and splenosomatic indices were not associated with lipidosis. There was no significant effect of lipidosis on mortality or growth.


Asunto(s)
Adipocitos/patología , Enfermedades de los Peces/patología , Lipidosis/veterinaria , Percas , Enfermedades del Bazo/veterinaria , Alimentación Animal/análisis , Animales , Ácidos Grasos/análisis , Enfermedades de los Peces/epidemiología , Explotaciones Pesqueras , Hepatocitos/patología , Grasa Intraabdominal/química , Lipidosis/epidemiología , Lipidosis/patología , Hígado/química , Prevalencia , Bazo/química , Bazo/patología , Enfermedades del Bazo/epidemiología , Enfermedades del Bazo/patología
5.
Circulation ; 129(18): 1821-31, 2014 May 06.
Artículo en Inglés | MEDLINE | ID: mdl-24622385

RESUMEN

BACKGROUND: The bulk of cardiovascular disease risk is not explained by traditional risk factors. Recent advances in mass spectrometry allow the identification and quantification of hundreds of lipid species. Molecular lipid profiling by mass spectrometry may improve cardiovascular risk prediction. METHODS AND RESULTS: Lipids were extracted from 685 plasma samples of the prospective population-based Bruneck Study (baseline evaluation in 2000). One hundred thirty-five lipid species from 8 different lipid classes were profiled by shotgun lipidomics with the use of a triple-quadrupole mass spectrometer. Levels of individual species of cholesterol esters (CEs), lysophosphatidylcholines, phosphatidylcholines, phosphatidylethanolamines (PEs), sphingomyelins, and triacylglycerols (TAGs) were associated with cardiovascular disease over a 10-year observation period (2000-2010, 90 incident events). Among the lipid species with the strongest predictive value were TAGs and CEs with a low carbon number and double-bond content, including TAG(54:2) and CE(16:1), as well as PE(36:5) (P=5.1 × 10⁻7, 2.2 × 10⁻4, and 2.5 × 10⁻³, respectively). Consideration of these 3 lipid species on top of traditional risk factors resulted in improved risk discrimination and classification for cardiovascular disease (cross-validated ΔC index, 0.0210 [95% confidence interval, 0.0010-0.0422]; integrated discrimination improvement, 0.0212 [95% confidence interval, 0.0031-0.0406]; and continuous net reclassification index, 0.398 [95% confidence interval, 0.175-0.619]). A similar shift in the plasma fatty acid composition was associated with cardiovascular disease in the UK Twin Registry (n=1453, 45 cases). CONCLUSIONS: This study applied mass spectrometry-based lipidomics profiling to population-based cohorts and identified molecular lipid signatures for cardiovascular disease. Molecular lipid species constitute promising new biomarkers that outperform the conventional biochemical measurements of lipid classes currently used in clinics.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/metabolismo , Lipidosis/epidemiología , Lipidosis/metabolismo , Metabolómica , Anciano , Anciano de 80 o más Años , Biomarcadores/metabolismo , Ésteres del Colesterol/metabolismo , Femenino , Humanos , Lisofosfatidilcolinas/metabolismo , Masculino , Espectrometría de Masas , Persona de Mediana Edad , Análisis Multivariante , Fosfatidilcolinas/metabolismo , Fosfatidiletanolaminas/metabolismo , Valor Predictivo de las Pruebas , Estudios Prospectivos , Sistema de Registros , Factores de Riesgo , Esfingomielinas/metabolismo , Triglicéridos/metabolismo , Reino Unido/epidemiología
6.
Acta Vet Scand ; 51: 7, 2009 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-19216753

RESUMEN

BACKGROUND: Bovine renal lipofuscinosis (BRL) is an incidental finding in cattle at slaughter. Condemnation of the kidneys as unfit for human consumption was until recently considered the only implication of BRL. Recent studies have indicated a negative influence on the health of affected animals. The present study investigated the prevalence, genetics and effect of BRL on milk yield and weight at slaughter. METHODS: BRL status of slaughter cattle was recorded at four abattoirs during a 2-year-period. Data regarding breed, age, genetic descent, milk yield and weight at slaughter were extracted from the Danish Cattle Database. The prevalence of BRL was estimated stratified by breed and age-group. Furthermore, total milk yield, milk yield in last full lactation and weight at slaughter were compared for BRL-affected and non-affected Danish Holsteins and Danish Red cattle. RESULTS: 433,759 bovines were slaughtered and 787 of these had BRL. BRL was mainly diagnosed in Danish Red, Danish Holstein and crossbreds. The age of BRL affected animals varied from 11 months to 13 years, but BRL was rarely diagnosed in cattle less than 2 years of age.The total lifelong energy corrected milk (ECM) yields were 3,136 and 4,083 kg higher for BRL affected Danish Red and Danish Holsteins, respectively. However, the median life span of affected animals was 4.9 months longer, and age-corrected total milk yield was 1,284 kg lower for BRL affected Danish Red cows. These cows produced 318 kg ECM less in their last full lactation. Weight at slaughter was not affected by BRL status.The cases occurred in patterns consistent with autosomal recessive inheritance and several family clusters of BRL were found. Analysis of segregation ratios demonstrated the expected ratio for Danish Red cattle, but not for Danish Holsteins. CONCLUSION: The study confirmed that BRL is a common finding in Danish Holsteins and Danish Red cattle at slaughter. The disorder is associated with increased total milk yield due to a longer production life. However, a reduced milk yield was detected in the end of the production life in Danish Red. The study supports that BRL is inherited autosomal recessively in the Danish Red breed and Danish Holsteins, but with incomplete penetrance of the genotype in Danish Holsteins.


Asunto(s)
Enfermedades de los Bovinos/metabolismo , Enfermedades Renales/veterinaria , Lipidosis/veterinaria , Lipofuscina/metabolismo , Leche/metabolismo , Animales , Peso Corporal , Bovinos , Enfermedades de los Bovinos/epidemiología , Enfermedades de los Bovinos/genética , Dinamarca/epidemiología , Femenino , Enfermedades Renales/epidemiología , Enfermedades Renales/genética , Enfermedades Renales/metabolismo , Lactancia , Lipidosis/epidemiología , Lipidosis/genética , Lipidosis/metabolismo , Lipofuscina/genética , Masculino , Linaje , Prevalencia
7.
Br J Nurs ; 16(9): 520-4, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17551441

RESUMEN

Lipohypertrophy has been a recognized complication of insulin therapy for many years, yet research shows that its prevalence in insulin-injecting patients with diabetes remains high. The problem for the patient is that the injection of insulin into a site of lipohypertrophy, although painless, may lead to erratic absorption of the insulin, with the potential for poor glycaemic control and unpredictable hypoglycaemia. Despite the important implications of this for diabetes control in insulin-injecting patients, there is a dearth of information and completed research into the condition. This article raises awareness of lipohypertrophy by reviewing the available literature on the prevention, identification and management of the condition from a nursing perspective. Recommendations for medical and nursing practice in diabetes care to improve prevention and management of lipohypertrophy are made.


Asunto(s)
Diabetes Mellitus Tipo 1 , Hipoglucemiantes/efectos adversos , Insulina/efectos adversos , Lipidosis/inducido químicamente , Lipidosis/prevención & control , Abdomen , Brazo , Nalgas , Causalidad , Cicatriz/inducido químicamente , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Femenino , Humanos , Inyecciones Subcutáneas/efectos adversos , Insulina/administración & dosificación , Pierna , Lipidosis/diagnóstico , Lipidosis/epidemiología , Masculino , Rol de la Enfermera , Evaluación en Enfermería , Educación del Paciente como Asunto , Examen Físico , Prevalencia , Prevención Primaria , Autoadministración
9.
Hum Genet ; 105(1-2): 151-6, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10480370

RESUMEN

We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most frequent LSD with a birth prevalence of 2.0 per 100,000 live births, representing 17% of all diagnosed cases. Within the group of lipidoses, metachromatic leukodystrophy (MLD) is the most frequent LSD. MLD was diagnosed in 24% of lipidoses and the calculated birth prevalence was 1.42 per 100,000 for all types combined. Krabbe disease, diagnosed in 17% of cases, also belongs to the more frequent lipid storage diseases in The Netherlands with a birth prevalence of 1.35 per 100,000. The birth prevalence of Gaucher disease, commonly regarded as the most frequent lipid storage disease is 1.16 per 100,000 for all types combined. The combined birth prevalence for all lipid storage diseases is 6.2 per 100,000 live births. Within the group of mucopolysaccharidoses (MPSs), MPS I has the highest calculated birth prevalence of 1.19 per 100,000 (25% of all cases of MPS diagnosed), which is slightly more frequent than MPS IIIA with an estimated birth prevalence of 1.16 per 100,000. As a group, MPS III comprises 47% of all MPS cases diagnosed and the combined birth prevalence is 1.89 per 100,000 live births. The birth prevalence of MPS II is 0.67 per 100,000 (1.30 per 100,000 male live births). All other MPSs are rare. The combined birth prevalence for all MPSs is 4.5 per 100,000 live births. Mucolipidoses and oligosaccharidoses are very rare with birth prevalences between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births.


Asunto(s)
Enfermedades por Almacenamiento Lisosomal/epidemiología , Estudios Epidemiológicos , Femenino , Enfermedad del Almacenamiento de Glucógeno/epidemiología , Enfermedad del Almacenamiento de Glucógeno Tipo II/epidemiología , Humanos , Recién Nacido , Lipidosis/epidemiología , Enfermedades por Almacenamiento Lisosomal/etnología , Masculino , Mucolipidosis/epidemiología , Países Bajos/epidemiología , Prevalencia
10.
J Am Vet Med Assoc ; 207(5): 604-7, 1995 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-7649775

RESUMEN

The medical records of 23 American Miniature Horses with hyperlipidemia, hyperlipemia, or hepatic lipidosis were reviewed. The most common clinical signs were anorexia and lethargy. The mean duration of clinical signs was 2.4 days. A primary disease was identified in 19 cases. Enterocolitis was the most common primary disease (n = 10). Intentional feed restriction, as part of treatment for colic, resulted in hyperlipemia in 2 horses and hyperlipidemia in 1. Four horses had primary hyperlipemia, 3 of which had signs of hepatoencephalopathy secondary to hepatic lipidosis. Dextrose, heparin, and insulin were the most common treatments. The overall survival was 61% (14/23). All horses with peak serum triglyceride concentrations > 1,200 mg/dl died or were euthanatized, whereas all but 1 with peak serum triglyceride concentrations < 1,200 mg/dl survived. These findings suggest that when American Miniature Horses, like other ponies and donkeys, are in a negative energy balance, they can rapidly develop hyperlipidemia or hyperlipemia. Early detection and treatment may improve survival.


Asunto(s)
Hígado Graso/veterinaria , Enfermedades de los Caballos/epidemiología , Hiperlipidemias/veterinaria , Lipidosis/veterinaria , Alimentación Animal , Animales , Anorexia/veterinaria , Cruzamiento , Causalidad , Hígado Graso/epidemiología , Hígado Graso/terapia , Femenino , Glucosa/uso terapéutico , Heparina/uso terapéutico , Enfermedades de los Caballos/terapia , Caballos , Hiperlipidemias/epidemiología , Hiperlipidemias/terapia , Insulina/uso terapéutico , Lipidosis/epidemiología , Lipidosis/terapia , Masculino , Fases del Sueño , Triglicéridos/sangre
11.
Pediatr Neurol ; 11(4): 295-7, 1994 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-7702688

RESUMEN

It is estimated that 70-100 children suffering from a lysosomal storage disease are born in Poland every year. From 1975 to 1993, the activity of various lysosomal enzymes was determined in the leukocytes, cultured skin fibroblasts, or hair roots from 5,594 patients, mainly children, in whom the diagnosis of a lipidosis was suspected. In that material 162 cases of a lipidosis were diagnosed. Metachromatic leukodystrophy seems to be the most frequent of the lipidoses; GM1 gangliosidosis is more frequent than GM2 gangliosidosis and Gaucher and Niemann-Pick diseases appear to be almost as frequent as the former.


Asunto(s)
Lipidosis/epidemiología , Enfermedades por Almacenamiento Lisosomal/epidemiología , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Enfermedad de Gaucher/clasificación , Enfermedad de Gaucher/epidemiología , Enfermedad de Gaucher/genética , Humanos , Incidencia , Lactante , Recién Nacido , Leucodistrofia Metacromática/clasificación , Leucodistrofia Metacromática/epidemiología , Leucodistrofia Metacromática/genética , Lipidosis/clasificación , Lipidosis/genética , Enfermedades por Almacenamiento Lisosomal/clasificación , Enfermedades por Almacenamiento Lisosomal/genética , Masculino , Enfermedades de Niemann-Pick/clasificación , Enfermedades de Niemann-Pick/epidemiología , Enfermedades de Niemann-Pick/genética , Polonia/epidemiología
12.
Rev. méd. Chile ; 122(10): 1158-62, oct. 1994. tab
Artículo en Español | LILACS | ID: lil-143992

RESUMEN

We studied 793 patients subjected to cholecystectomy to determine a) the relative frequency of cholesterolosis and cholelithiasis b) the effect of their association on the natural history of biliary disease, c) the characteristics of gallstones associated to cholesterolosis and d) factors potentially associated to their pathogenesis. The gallbladders of all patients were examined and in 289 subjects a preoperative clinical history was taken. We observed that cholesterolosis is associated to earlier clinical manifestations of biliary disease and cholecystectomy, to a greater frequency of single calculus and to a higher weight/height index. It is concluded that there are relationships between the pathogenesis of cholesterolosis and cholelithiasis and that their association favors the development of clinical manifestations


Asunto(s)
Humanos , Masculino , Femenino , Colelitiasis/complicaciones , Lipidosis/complicaciones , Colecistectomía , Colelitiasis/patología , Colelitiasis/epidemiología , Historia Natural de las Enfermedades , Lipidosis/patología , Lipidosis/epidemiología , Distribución por Edad , Vesícula Biliar/patología
13.
J Vet Intern Med ; 7(4): 205-9, 1993.
Artículo en Inglés | MEDLINE | ID: mdl-8246208

RESUMEN

The purpose of this study was to characterize the incidence, clinical features, and prognosis of acute pancreatitis in cats with hepatic lipidosis. Of 13 cats histologically diagnosed with hepatic lipidosis between July 1988, and November 1989, 5(38%) were also histologically diagnosed with acute pancreatitis. In cats with hepatic lipidosis alone, the signalment, history, physical examination, and clinicopathologic findings were generally indistinguishable from those of cats with concurrent acute pancreatitis except that cats with acute pancreatitis were more likely to be cachectic and to have coagulation abnormalities. Hepatomegaly was seen on abdominal radiographs in both groups. Of the 5 cats with concurrent acute pancreatitis, abdominal ultrasonography detected 1 cat with a hypoechoic pancreas and 5 with peritoneal effusion; those abnormalities were not seen in cats without concurrent acute pancreatitis. Cats with concurrent acute pancreatitis had only a 20% recovery rate, compared with a 50% recovery rate in cats with hepatic lipidosis alone. We conclude that cats with hepatic lipidosis should be rigorously evaluated for concurrent acute pancreatitis because of 1) the rate of disease coincidence, 2) the inability of signalment, history, physical examination, and clinicopathologic findings to adequately distinguish between hepatic lipidosis and acute pancreatitis, 3) the worse prognosis associated with concurrent acute pancreatitis, and 4) the opposing nutritional strategies for hepatic lipidosis and acute pancreatitis.


Asunto(s)
Enfermedades de los Gatos/epidemiología , Lipidosis/veterinaria , Hígado/metabolismo , Pancreatitis/veterinaria , Enfermedad Aguda , Animales , Enfermedades de los Gatos/patología , Gatos , Femenino , Incidencia , Lipidosis/complicaciones , Lipidosis/epidemiología , Lipidosis/patología , Hígado/diagnóstico por imagen , Hígado/patología , Masculino , Páncreas/diagnóstico por imagen , Páncreas/patología , Pancreatitis/complicaciones , Pancreatitis/epidemiología , Pronóstico , Ultrasonografía
15.
Hum Pathol ; 15(8): 724-30, 1984 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-6745914

RESUMEN

A histologic study of spleens from autopsies performed in 74 centers in 41 countries showed the incidence of follicular (mineral oil) lipidosis to vary from 50 per cent (North America, Australia, New Zealand) to nil (Africa, Central and South America) in 1970 and 1971. Analysis of the factors responsible for the condition leads to the conclusion that the lipid is ingested from sources related to the packaging and display of foodstuffs.


Asunto(s)
Lipidosis/epidemiología , Aceite Mineral/efectos adversos , Bazo/patología , Enfermedades del Bazo/epidemiología , Adolescente , Adulto , África , Factores de Edad , Anciano , Australia , Canadá , América Central , Niño , Europa (Continente) , Femenino , Conservación de Alimentos/efectos adversos , Humanos , India , Lipidosis/inducido químicamente , Lipidosis/patología , Masculino , México , Persona de Mediana Edad , América del Sur , Enfermedades del Bazo/inducido químicamente , Enfermedades del Bazo/patología , Reino Unido , Estados Unidos
16.
18.
Pediatrics ; 59(1): 86-90, 1977 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-840547

RESUMEN

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 gennotype 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.


Asunto(s)
Lipidosis/diagnóstico , Tamizaje Masivo , Adolescente , Factores de Edad , Actitud Frente a la Salud , Conducta Cooperativa , Femenino , Genética Médica , Humanos , Lipidosis/epidemiología , Masculino , Padres , Quebec , Servicios de Salud Escolar
19.
S Afr Med J ; 51(4): 95-8, 1977 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-841439

RESUMEN

Tay-Sachs disease is potentially preventable in Ashkenazi Jewish communities. About 1 out of 25 individuals is a carrier of the gene and can be accurately identified by means of a simple, inexpensive blood test. 'At risk' couples, i.e. couples of whom both partners are carriers, can be enabled, by means of prenatal diagnosis and selective abortion, to have only unaffected children. Mass screening programmes have been successfully carried out in the USA, Canada and Israel. A discussion of South African Jewish deomgraphy, attitudes to health, and priorities for public health projects, provide the background to a consideration of Tay-Sachs disease prevention in South Africa.


Asunto(s)
Judíos , Lipidosis/prevención & control , Tamizaje Masivo , Actitud Frente a la Salud , Heterocigoto , Humanos , Recién Nacido , Lipidosis/epidemiología , Dinámica Poblacional , Sudáfrica
20.
South Med J ; 69(11): 1453-5, 1976 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-1019641

RESUMEN

A pilot screening program for the detection of the carrier (heterozygote) of the Tay-Sachs disease (TSD) gene has recently been completed at the Medical University of South Carolina. A fluorometric assay for serum hexosaminidase A and B was performed on the serum of 181 individuals from the Charleston Jewish community. One hundred seventy-six of these individuals were classified as normal based on the percent hexosaminidase A (Hex A) in their serum; five persons were classified as carriers of the Tay-Sachs gene, including a young married couple who were later referred for genetic counseling.


Asunto(s)
Heterocigoto , Judíos , Lipidosis/epidemiología , Frecuencia de los Genes , Hexosaminidasas/sangre , Humanos , Lipidosis/enzimología , Lipidosis/genética , Tamizaje Masivo , South Carolina
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...