Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cross-cultural differences exist in prenatal diagnosis and abortion for fetal anomaly, stemming from variations in laws, reimbursement policies, litigation, physicians' decision-making authority, and attitudes toward the prevention of handicaps. The first part of this paper discusses such differences in France and the U.S. The second part describes a survey of practising obstetricians in Paris, designed to assess (1) their attitudes toward pregnancy termination for various conditions, (2) their concern about fetal viability, (3) their desire for diagnostic certainty before justifying a late abortion, and (4) their perceived role in such decision-making. Among the 64.8 per cent (N = 217) who responded, the majority supported third-trimester termination (TTT) for diseases such as spina bifida, trisomy 21, microcephaly, and Duchenne muscular dystrophy; 30-59 per cent supported TTT for cystic fibrosis and sickle cell disease; and 22-29 per cent supported TTT for haemophilia, tetralogy of Fallot, limb amputation, and Turner and Klinefelter syndromes. Obstetricians who approved of abortion across trimesters were less concerned with the certainty of diagnosis than its severity, more likely to think that abortion ought to be the parents' choice, but more likely to report making a recommendation to the parents about whether to abort a fetus. Such permissive abortion attitudes might imply more permissive prenatal diagnosis and abortion practice among Parisian obstetricians, which might lead to increased migration of patients from other E.C. countries. Cross-cultural variation in obstetric practice suggests that an international registry of pregnancies terminated for medical reasons, enabling further study of this issue, would be valuable.
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PMID:Attitudes toward abortion for fetal anomaly in the second vs. the third trimester: a survey of Parisian obstetricians. 828 89

The current state of molecular diagnosis of some common genetic diseases, including cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B, phenylketonuria, and thalassaemia, in Russia and elsewhere in the former USSR is reviewed. Data on carrier detection and prenatal diagnosis are presented and some objective problems and obstacles hampering efficient molecular diagnosis in Russia are discussed. The necessity for molecular diagnosis of some other inherited diseases (for example, von Willebrand's disease, Martin-Bell syndrome, polycystic kidney disease, Huntington's disease, and myotonic dystrophy) is stressed. The need for establishing new diagnostic centres dealing with the most common diseases, as well as rare genetic diseases, is substantiated. Perspectives on the implementation of new molecular methods and new technical approaches (preimplantation embryo diagnosis, fetal cells selected from maternal blood) are briefly outlined.
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PMID:Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. 844 19

This paper is a brief review of the scope of research and clinical work in human genetics in Singapore. Clinical genetics and karyotyping were established in the early sixties. G6PD deficiency was discovered then as the commonest cause of kernicterus in the newborn. Screening of all newborns was instituted. The measures taken have been very successful and kernicterus is virtually unknown since the early 1970s. Numerous G6PD variants have been discovered and characterized. During the 1980s the emphasis shifted to molecular genetics. Work on the molecular genetics of alpha- and beta-thalassemias, Duchenne muscular dystrophy, hemophilia and retinoblastoma have been established, and good progress on diseases such as neurofibromatosis, leukemias, and lymphoid malignancies. The diagnosis of tuberculosis by DNA amplification (PCR) has been successfully implemented. Numerous papers have been published on the molecular genetics of coronary artery disease, as well as in population genetics.
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PMID:Medical genetics in Singapore. 862 4

The utility of polymerase chain reaction (PCR) amplification of amelogenin gene as a reliable and rapid means of determination of sex chromosomes was tested in 20 patients of X-linked disorders (Duchenne muscular dystrophy, haemophilia and Wiscott-Aldrich and Hunter's syndromes), 12 of intersex (testicular feminization syndrome, male pseudohermaphrodites, true hermaphrodites) and 21 of congenital adrenal hyperplasia. Of these, 26 (49%) cases were for prenatal diagnosis of X-linked diseases and congenital adrenal hyperplasia (CAH). The presence of X and Y chromosomes was determined within 24 h of receiving the samples. The results were in conformity with cytogenetic studies in all instances. The analysis of amelogenin gene proved helpful in the diagnosis and management of these patients.
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PMID:Utility of XY-amelogenin gene primers for detection of sex chromosomes. 960 46

Duchenne dystrophy (DMD) is an X-linked lethal condition which affects 1 in 3,500 boys. The DMD gene is deleted in about 60-65% of patients while in the remaining 35-40% the condition is caused by point mutations, small insertions, or duplications. We have ascertained 967 DMD families (680 isolated and 287 familial cases). Screening for deletions showed a molecular deletion in 383 among 615 (62.3%) analyzed cases. However, 10 families were unusual: In 7 of them, 2 or more DMD patients were related through paternal lines while in 3 others, affected boys related through maternal lines carried different mutations or originated through independent new mutation events. The finding of 10 atypical genealogies, which represent about 1% of the sample (10/967) or about 3% of familial cases (10/287) is higher than we would expect by chance. Even so, it is an underestimate because screening of mutations in all the affected DMD relatives from each genealogy is not done in many of the familial cases. It suggests that other mechanisms (such as transposon-like elements, for example) could be responsible for a higher genomic instability leading to novel mutations as reported previously by us and others in DMD and in other genetic disorders such as hemophilia and inherited peripheral neuropathies. On the other hand, it shows the importance of testing all affected patients within each genealogy to prevent possible mistakes in carrier detection, genetic counseling, and prenatal diagnosis.
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PMID:Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases. 971 40

The question of whether genetic carrier testing should be performed on children has been the subject of much debate. However, one important element has been lacking from this debate. There has been practically no knowledge of how those tested in childhood have experienced carrier testing. Twenty three subjects in families affected by Duchenne muscular dystrophy and 23 in families affected by haemophilia A, all of whom had been tested during childhood for carriership in the Department of Medical Genetics, University of Helsinki, from 1984 to 1988, participated in our study. We investigated long term psychosocial consequences of carrier testing in childhood. A questionnaire relating to sociodemographic background and life situation was used, together with assessment of health related quality of life (HRQOL) using the RAND 36 item Health Survey 1.0 (RAND). RAND results showed that the emotional, social, and physical well being of the young female subjects was not statistically different from those of control female subjects at a similar age. We also found no statistically significant differences in means in any RAND dimension (p<0.146) between carriers, non-carriers, and a group in which carrier status was uncertain. However, two out of seven carriers reported that they were worried and three that they were slightly worried about the test result. Four out of 22 young female subjects in the uncertain group reported being worried and 11 reported being slightly worried.
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PMID:Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation. 1046 12

Transplantation of disaggregated myoblasts from normal donor to the muscles of a diseased host, or reimplantation of genetically modified host myoblasts, has been suggested as a possible route to therapy for inherited myopathies such as Duchenne muscular dystrophy, or to supply missing proteins that are required systemically in diseases such as hemophilia. With two exceptions, studies of myoblast transfer in the mouse have involved transplantation of donor myoblasts isolated from adult or neonatal skeletal muscle satellite cells. In this study we present evidence that thymic myoid cells are capable of participating in the regeneration of postnatal skeletal muscle, resulting in the expression of donor-derived proteins such as dystrophin and retrovirally encoded proteins such as beta-galactosidase within host muscles. This leads us to conclude that thymic myoid cells may provide an alternative to myoblasts derived from skeletal muscle as a source of myogenic cells for myoblast transfer.
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PMID:Thymic myoid cells as a source of cells for myoblast transfer. 1103 69

Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained by chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis can now be performed using a single cell obtained from pre-implantation embryos or from rare foetal cells isolated from maternal peripheral blood. The latter is safer and more acceptable to parents. Presymptomatic testing for untreatable diseases such as Hungtington's disease poses new ethical and social problems that need to be resolved. As many more genes are being discovered, prenatal diagnosis and presymptomatic testing programmes will continue to meet new challenges in the future.
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PMID:Prenatal diagnosis of common single gene disorders by DNA technology. 1185 May 68

Testicular aging, like ovarian aging, concerns not just the individual but also the quality of the gametes and hence of the offspring. The 1st signs of testicular aging appear early. Beginning around the age of 30, the vascularization begins to thin, with a progressive decline in the density of the capillaries. The membrane of the seminiferous tubules, an essential element of the hematotesticular barrier, begins to thicken and the number of Sertoli cells begins to decline. Endocrine effects usually appear a decade later, but individual variations are considerable. These modifications are accompanied by a slow decline in the number of sperm and alterations in their morphology and motility. Male fertility declines progressively with age. The quality of the gametes is lower among very young males and increases to a maximum at about age 30. Paternal aging may be responsible for well-defined syndromes in the offspring. Paternal aging has long been recognized as a factor in dominant autosomal mutations causing macroscopic malformations such as achondroplasia, Apert syndrome, Marfan's syndrome, fibrodysplasia ossificans progressiva, and others. The frequency of each disorder is very low, but the total number of recognized disorders of this type exceeds 1000, multiplying the risks so that the .3-.5% risk of anomalies due to paternal aging after 40 is comparable to the risk of trisomy 21 for women aged 35-40. Dominant autosomal mutations can also be responsible for less marked anomalies such as Recklinghausen's neurofibromatosis. Some authors believe that recessive mutations linked to the X chromosome causing hemophilia or Duchenne muscular dystrophy can also result from paternal aging. Some evidence suggests that for a given maternal age, paternal age results in subtle and continuous declines in cerebral functioning. A psychometric study of 1700 military recruits in Nancy, France, in 1985 who were 18 years old showed that sons of very young fathers and of older fathers did less well on the tests. The study is being repeated on 12,000 recruits in the Paris area in 1989-90 to verify the results. Efforts will be made to separate the influence of socioeconomic status and birth order on the results.
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PMID:[Age of the father and development potential]. 1228 1

The goals of this visit to China were to make contact with Chinese geneticists to discover what problems they feel they have to solve most urgently, what research they are undertaking, what services they need to provide, and to see what international links would be welcome. Basic problems in China include rapid population growth and lack of reliable population data. A new census was held in 1982, and valuable information has emerged. The population has reached 1015 million, nearly double the 1949 figure. In the early 1970s, Mao-Tse-Tung stressed the need to control population growth through late marriage, late childbirth, longer birth intervals, and the one child per couple policy. These ideas are reinforced by efficient contraceptive delivery, massive publicity, and strong social pressures aimed to keep the population within 1.2 billion by the end of the century. Women's average marriage age has risen from 19 in the 1950s to 22.8 in 1981; 69.5 of all women of childbearing age practice contraception, with 40% using the IUD, 37% tubal ligation, 11.9%, vasectomy and 6.3% oral contraceptives or injectables. This slowing in population growth makes it important for parents to be reassured their child will be born healthy and will survive. Every year in China, about 1/2 million or 18/1000 live births have a severe handicap, malformation, or genetic disease. Work on the incidence and distribution of disorders in China is selective. The prevalence of phenylketonuria (1/15,000) and congenital hypothyroidism is similar to that in Britain. Duchenne muscular dystrophy and hemophilia probably have a prevalence similar to that in Europe. Surveys and studies in Shanghai show that heart malformations were found in 6/1000 births, congenital dislocation of the hip in 4/1000, cleft lip and palate in 1.5/1000, club foot in 1/1000, and neural tube defects in .7/1000. A national survey of Mendelian and other eye disorders show prevalences of 1/5600 and 1.4/1000 births, respectively. Biochemical and molecular genetics in relation to genetic disorders is limited at present, but the work done appears to be soundly based. Clinical genetic services are also at an early stage of development; there are only a few specialists, and counselling is mainly provided by people trained in pediatrics, obstetrics, or family planning. China's great medical genetic challenge is to identify the specific major problems of each province and to establish appropriate genetic services, including counselling, prenatal diagnosis, dietary counselling, and selective abortion.
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PMID:Report of the delegation of clinical geneticists to China, Spring 1986. 1231 23


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