Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An exhaustive clinico-biochemical examination of the population of two kishlaks of the Samarkand Region, viz. Karakent (210 persons) and Ishan (248 persons) was carried out. The program of this examination permitted to exclude over 160 forms of hereditary pathology. A total of 45 persons affected with diseases belonging to 12 nosological forms were revealed in the course of the examination. Among the diseases observed only 5 are hereditary sensu stricto, viz. myoclonus-epilepsy, Bonevi-Ulrich's syndrome, imperfect osteogenesis, pigment choreoretinite and Down's syndrome, others belong to diseases with a pronounced hereditary predisposition. The main part of this group comprises neuro-psychic diseases, such as non-differentiated olygophreny (5.0%), epilepsy (1.3%), schizophreny; many of these cases have a familial character, particularly in Karakent. Besides the persons suffering from diseases, 20 heterozygous carriers of beta-thalassemia and 17 heterozygous carriers of G6PD-deficiency were discovered in the kishlaks examined. On the whole the frequency of the diseases revealed did not exceed the level in the general population. Despite the different degree of isolation of the kishlaks examined (Karakent is isolated on a religious basis, F = 0.0064; while Ishan is a desintagrated isolate, F = = 0.0014), no substantial differences between them in the distribution of pathological phenomena were observed. On the basis of the experience of this expedition recomendations are proposed concerning the origination and accomplishment of medico-genetic expeditions. A scheme is proposed for the performance of medico-genetic examination through several stages. The first stage in the composition of tentative maps of the distribution of hereditary diseases within a region on the basis of the information obtained from the medical personnel and from the examination of the documents of district and regional hospitals. Subsequently the primary information is specified, the regions to be examined are determined, as well as concrete tasks and the staff of the expedition. The conclusive stage is the medico-genetic examination proper, including clinical, biochemical, immunological and cytogenetic diagnoses of hereditary pathological phenomena. The place of the disposition is a village or a district hospital. More complicated laboratory studies should be performed on the basis of the institution by which the expedition is formed. The results obtained by such expeditions would be important for the investigation of the problems of genogeography, for the discovery of new forms of mutant alleles, for the investigation of the causes and the conditions of the formation of the definite populational structure, of clinical polymorphism of human hereditary diseases.
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PMID:[Medico-genetic study of isolates in Uzbekistan. IV. Clinico-biochemical diagnosis of hereditary diseases]. 13 12

Many clinical syndromes are associated with short stature, which can be proportionate or disproportionate. In the first group of syndromes, such as Turner syndrome and its variants, Down syndrome, Prader-Willi-Labhart syndrome, Noonan syndrome, and Silver-Russell syndrome growth hormone therapy can lead to increased growth velocity, but so far only short-term results have been reported. Growth hormone is contraindicated in syndromes with an increased risk of chromosomal breakage, e.g. Bloom syndrome. In disproportionate syndromes, such as hypochondroplasia, pseudopseudohypoparathyroidism, spina bifida, and hypophosphataemic rickets, the results of growth hormone therapy are not encouraging. Growth hormone therapy in children with rheumatoid arthritis and thalassaemia appears little effective. Long-term clinical trials of reasonable size are needed before reliable conclusions can be drawn about the value of growth hormone therapy in these conditions.
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PMID:[Growth hormone therapy in dysmorphic syndromes and chronic disease]. 144 9

The chance occurrence of Down syndrome and sickle cell disease is an extremely rare event. The patient presented in this article is the only reported case, based on medical literature review, of Down syndrome coexisting with sickle cell disease due to hemoglobin S/beta+ thalassemia. He had multiple recurrent aplastic crises and severe psychomotor and growth retardation. The physiologic basis for the atypical manifestations of both of his disorders is the subject of this report.
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PMID:Down syndrome complicated by hemoglobin S/beta+ thalassemia. Atypical expression of coexistent disease. 214 9

This report discusses the role of prenatal screening in preventing congenital abnormalities or, when prevention is not possible, in avoiding the conception or the birth of those who would have untreatable abnormalities. Women who are found by screening not to be immune to rubella can be safely vaccinated prior to pregnancy; those found to be at risk of having children with genetic disorders such as Tay-Sachs disease or thalassemia have the option of avoiding the conception of affected offspring. Screening during pregnancy permits the primary prevention of Rh disease and its sequelae when it results in the prophylactic administration of Rh-immune globulin to unsensitized Rh-negative women. Maternal serum alpha-fetoprotein screening identifies pregnant women who are at increased risk of carrying fetuses with neural tube defects or Down's syndrome, giving them the option of avoiding the birth of affected fetuses through abortion. Recombinant DNA technology will permit screening for many more genetic disorders as the disease-related genes and mutations are identified. For many of these disorders, the ability to predict the risk of disease will antedate preventive and therapeutic interventions by many years. During this lag phase, issues concerning the validity of the tests, the severity of the conditions for which screening is offered, the safety of the interventions, and the autonomy of the pregnant women in deciding to be screened are important.
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PMID:Prenatal screening: when and for whom? 214 72

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0-14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive improvement of growth in children with DS, as shown in other recent reports. The purpose of this study was also to create a "normal growth pattern" useful to evaluate DS children and also to diagnose early pathologic conditions affecting growth, such as autoimmune diseases.
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PMID:Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age. 214 77

In this review the chemistry and formation of oxygen radicals is surveyed. Various physiological protective mechanisms against oxygen radicals as well as the consequence of too much or too little oxygen radicals in diseases is discussed. In this respect attention is given to hypoxia/ischemia, bronchopulmonary dysplasia, retrolental fibroplasia, thalassaemia, Down's syndrome and chronic granulomatous disease. Finally some new developments in pharmacotherapeutic possibilities which might play a role in prevention or amelioration of free radical pathologies are mentioned.
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PMID:[Oxygen radicals: rescue or threat?]. 255 29

Screening of 7500 children aged between 5.8 and 14.4 years, out of a total population of 39,690 in this age group in the Rehovot region, revealed 111 children with heights 2.5 SD below the mean for their age, according to the Tanner-Whitehouse standards. Included among these short children were eight with hypochondroplastic skeletal disease, two with Down's syndrome, four with thalassaemia, four with Turner's syndrome, three with coeliac disease, four with classical growth hormone (GH) deficiency, four with intrauterine growth retardation, four with systemic disease and 78 without obvious underlying causes. In 35 of the 78 children in the last group, the 24-hour integrated concentration of GH was in the hypopituitary range (less than 3.2 ng/ml), and GH neurosecretory dysfunction (NSD) was accordingly diagnosed. This represents an incidence of GH neurosecretory dysfunction of 45% among abnormally short children without underlying pathology, and is consistent with the authors' previous findings. The overall frequency of GH neurosecretory dysfunction in the screened population was 4/1000.
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PMID:Incidence of neurosecretory dysfunction among children aged 6-14 years in Rehovot, Israel. 275 May 34

Various systemic diseases and conditions have been associated with an increase in periodontal disease severity. These studies indicate that host-response mechanisms influence the initiation and/or progression of inflammatory periodontal diseases. Diseases that have been associated with an increased severity of periodontal disease include various neutrophil abnormalities, Down's syndrome, diabetes, and recently, the acquired immunodeficiency syndrome. Sickle cell disease is strongly associated with a predisposition to various infections; therefore, the objective of this study was to determine whether sickle cell disease is also associated with an increase in the severity of periodontal disease. A total of 78 patients with sickle cell anemia (SS), hemoglobin SC disease (SC) or S Thalassemia were evaluated blind and compared with an appropriate control population using clinical and radiographic indices of periodontal disease severity. The results clearly indicate that, in this population of patients, sickle cell disease is not associated with increased levels of gingivitis or periodontitis.
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PMID:Periodontal disease in sickle cell disease subjects. 316 81

Contrary to earlier reports from Asia, trisomy 21 is common in Burma and other chromosome abnormalities are found. A variety of dominant, recessive and X-linked genetic disorders occur. Twins are found in 1% of births and MZ and DZ twins are equally common. Thalassaemia and meningomyelocele are relatively common while congenital dislocation of the hip and phenylketonuria are very rare. The intensity of inbreeding had been measured by survey and found to be F = 0.0005 in Rangoon and F = 0.0015 in villages around Hlegu.
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PMID:Human genetics in Burma. 646 Jun 83

At this time a rather large number of congenital abnormalities still occur. About 2-3% of pregnancies will result in children with major congenital abnormalities that cannot be detected prenatally. Yet, with the availability of prenatal diagnosis for an ever increasing number of genetic problems and, more recently, for developmental problems as well, a new option was offered to couples at risk when they took the risk of pregnancy: finding out whether the fetus was abnormal. An early argument regarding the ethics of this option was formulated by Dan Callahan, director of the Hastings Institute for Ethics, Society and the Life Sciences, when he indicated the need to be careful about the term "option." A need exists to be careful about societal pressures in favor of the new medical options--on, for example, a pregnant woman who is over 35 and does not get a prenatal diagnosis; or on a woman carrying a Down's syndrome child identified by prenatal diagnosis not to have an abortion. This was the 1st specter raised when prenatal diagnosis was introduced. The most common indication for amniocentesis is the risk of chromosomal abnormalities. The risk of discovering a chromosomal abnormality by amniocentesis is about double the risk at birth because a number of chromosomally abnormal fetuses are lost late in the 2nd trimester by spontaneous abortion. The age cutoff at 35 raises an immediate ethical question: since the total number of births to women over age 35 seems to be increasing, and at the same time a greater and greater percentage of children with Down's syndrome are born to women under age 35, the question arises as to whether amniocentesis should be done on all pregnancies, and whether all births with Down's syndrome should be selectively aborted or avoided. Amniocentesis in all pregnancies is impractical at this time from the technological and the cost perspective, but the ethical question should be raised. Among the X-linked disorders, 1 group cannot be specifically diagnosed in utero by prenatal diagnosis. If a woman is known to be a carrier, her daughters won't have the disease, but half of them will be carriers. Regarding sex preference as a reason for amniocentesis, all the geneticist can and should do is provide a couple with a base of knowledge and understanding of the options available to them and the outcome of each option. X-linked disorders such as hemophilia and Lesch-Nyhan syndrome and the autosomal recessive biochemical disorders or inborn errors of metabolism such as Tay-Sachs disease and over 100 others can now be diagnosed prenatally. In the vast majority of cases, amniocentesis is performed because the parents already have an abnormal child. Screening programs for Tay-Sachs disease, for sickle cell anemia, and for thalassemia also detect couples at risk. A variety of tools other than amniocentesis are now available for prenatal diagnosis. Much work is being conducted in the prenatal diagnosis of sickle cell anemia and thalassemia.
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PMID:Genetics, amniocentesis, and abortion. 660 72


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