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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Current state of molecular diagnosis of hereditary diseases most common in the former USSR such as cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B as well as phenylketonuria is reviewed. Basic results of prenatal diagnosis and carrier detection of the above mentioned diseases in St.-Petersbourg and somewhere else in Russia are presented. The urgent necessity to start an efficient molecular diagnosis of some other widespread hereditary diseases (von Willebrand's disease, Martin-Bell syndrome, polycystic kidney. Huntington chorea, myotonic dystrophy, etc.) is emphasized. Creation of new diagnostic centers dealing with most common diseases as well as complementing each other as to molecular diagnosis of more rare hereditary diseases is substantiated. Prospects of implementation of new molecular methods and novel technical approaches (preimplantation embryos, fetal cells selected from maternal blood) for more efficient diagnosis of hereditary diseases are briefly outlined.
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PMID:[Successes and prospects of molecular diagnosis of the most widespread inherited diseases]. 144 Sep 21

Using the recent developments of molecular biology techniques, our laboratory is offering carrier and prenatal diagnosis for a variety of genetic disorders including cystic fibrosis, phenylketonuria, thalassaemia alpha and beta, sickle cell anaemia, myotonic dystrophy, von Recklinghausen's disease, autosomal polycystic kidney disease, haemophilia A and B, Martin-Bell syndrome (fragile X), Becker and Duchenne muscular dystrophy, etc. It is likely that the rapid advances made in the establishment of the human genetic map will considerably expand the spectrum of diseases for which diagnosis by molecular genetics will become available.
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PMID:[Molecular and diagnostic genetics]. 219 51

Prenatal diagnoses of the genetic disorders alpha, beta thalassemia, HbS, Hb Lepore, hemophilia and cystic fibrosis were sought in 88 cases. Six unsuccessful attempts at diagnosis resulted from DNA polymorphisms which were only 50% informative (four cases) and prenatal diagnoses which had been undertaken before it was known whether DNA polymorphisms in family studies were informative (two cases). The most frequent indications for prenatal diagnosis were the hemoglobinopathies although requests for exclusion of cystic fibrosis formed the majority during 1989. Strong linkage disequilibrium between the cystic fibrosis defect and its associated DNA polymorphisms facilitated detection of this disorder. Late presentations among patients with beta thalassemia and hemophilia and the necessity for more specialised genetic counselling were the commonest problems encountered.
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PMID:Experience of a molecular genetics service in prenatal diagnosis by DNA analysis. 224 30

Splenectomy for massive splenomegaly and hypersplenism carries a significant morbidity and mortality. We have used partial splenic embolization (PSE) as an effective alternative to splenectomy. Ten PSE procedures were performed on nine patients without mortality and with minimal morbidity. The age of the patients ranged from 8 months to 32 years (mean 14 years). The causes of splenomegaly and hypersplenism included cystic fibrosis with cirrhosis (2), tyrosinemia and cirrhosis (1); thalassemia (1), hemophilia with Human Immune Deficiency Virus infection (2), chronic hepatitis with portal hypertension (1), malignant histiocytosis (1), and Wiskott-Aldrich Syndrome (1). All procedures were performed under local anesthesia with sedation. A percutaneous femoral artery approach to the splenic artery was used to deliver Ivalon sponge particles (280-800 microns) into the spleen. Splenic infarction was assessed by postembolization angiograms. All of the patients except one demonstrated improvement of hematologic parameters. In one patient, however, cytopenia improved only after a second embolization. In the total series, there was an early mean rise of 8,600/mm3 in the leukocyte count (range 2,900-14,900) and 212,000/mm3 in the platelet count (range 30,000-718,000). Follow-up ranged from 4 months to 7 years. Improvement of the blood picture has been persistent in seven of the eight patients who showed initial improvement. Transient procedural complications included fever (5), pleural effusion (2), pneumonia (1), and splenic abscess (1). One patient had paralytic ileus lasting for 10 days and one patient developed a streptococcal peritonitis 3 weeks after embolization. No patient developed pancreatitis or vascular compromise of other abdominal viscera.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Partial splenic embolization. An effective alternative to splenectomy for hypersplenism. 226 5

In 1985, researchers from the Marseilles Genetic Centre in southern France surveyed general practitioners, gynecologists, obstetricians, and pediatricians on their acceptability of abortions after prenatal diagnosis. 34% (657) of general practitioners in the region responded as did 53% (196) of the specialists. A multivariate adjustment was necessary in this study because of the sociodemographic variables that are linked to the physicians' opinions. The researchers limited the variables to Down's, Turner, and Klinefelter syndromes; spina bifida; cystic fibrosis; and hemophilia. Overall justification for termination of pregnancy was highest for Down's syndrome (78%) and moral reasons were given by physicians who opposed. The lowest justification was for hemophilia (21%) and professional reasons were stated by those opposed. 44-52% of the physicians considered pregnancy termination justified for the remaining conditions. Significant variations existed among the type of practice for Turner and Klinefelter syndromes (p.01) and spina bifida (p.05). The mean age for physicians favoring termination of pregnancy for Turner and Klinefelter syndromes was younger than those who did not favor termination (p.01). The same was also true for spina bifida (p.05). Women refrained from expressing an opinion on abortion for hemophilia more often than men ((p.001). Yet women more often favored abortion for spina bifida than men (p.05). Gender did not affect responses on reasons for reserves, but older physicians more frequently stated religious reasons for reserves, but older physicians more frequently stated religious reasons than moral or professional reasons (p.01). As for physicians professing moral and/or religious reasons on average had a greater number of children (p.01). 29% of the respondents would change their positions, however, if prenatal diagnosis were done during the 1st trimester.
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PMID:Physicians' acceptability of termination of pregnancy after prenatal diagnosis in southern France. 252 96

1. With the development of techniques of gene transfer, human genetic defects such as sickle cell anaemia, phenylketonurea, cystic fibrosis, haemophilia, Huntington's chorea, etc. will be eliminated. Ninety nine percent of humans in the year 2500 will be much the same as at present, but healthier. 2. Studies of Comparative Biochemistry and Physiology show that many strategies have been developed in the Animal Kingdom that could be advantageous in furthering human survival. Some of these strategies are discussed in the present article. 3. Commensal algae that will live in the epidermis of domestic animals (pigs, goats, cattle) will be developed enabling these animals to live in dry environments with minimal demands for food and water. Once successful in domestic animals, the algae could be adapted to live in some humans, i.e. the "Green Man". 4. Commensal protozoa and bacteria that digest cellulose and lignin will be developed so that they can live in the human gut and convert the material to sugars, volatile fatty acids and amino acids that can be absorbed and metabolized by Man, thus making many inexpensive vegetable food resources available. 5. Mammalian embryos will be able to develop through to full term in vitro in a cleidoic egg; and the in vitro fertilized egg will have to depend on finding a surrogate mother. 6. Some people will have an altered pattern of sexual activity. Many patterns will be available; one suggested here is of protogynous hermaphroditism, i.e. the individuals would be female for the first 30 years of life and male for the remaining years.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Possible evolutionary futures for mankind. 290 Jan 6

Currently, advances in molecular technology involving recombinant DNA have led to dramatic breakthroughs in genetic diseases, cancer research, and identification of foreign DNA. Of particular interest is the impact these tools have made and will make on the clinical laboratory. We describe the techniques and their effects on clinical testing in the chemistry laboratory by using selected examples of available applications. Specific examples include carrier detections and prenatal diagnosis in cystic fibrosis and hemophilia, and sickle cell anemia.
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PMID:Clinical applications of DNA probes in the diagnosis of genetic diseases. 332 74

During the last 30 years the Frambu Health Centre has evolved from a summer-camp site for children with poliomyelitis to a modern information and treatment Centre for families with disabled members. Since 1976, fortnightly courses have been held for an increasing number of patients with rare, often congenital and/or hereditary disorders (anorectal anomalies, bladder extrophy, congenital heart defects, cystic fibrosis, severe diabetes, hemophilia, hip joint defects, juvenile rheumatoid arthritis, minimal brain dysfunction, muscular dystrophy, phenylketonuria, psychosis/autism, spina bifida, Huntington's chorea, osteogenesis imperfecta, retitinitis pigmentosa, a. o.). This article describes the facilities, operation, financing and staff at Frambu. An outline of the course programme is given. The contents of two research projects carried out at Frambu are described. When families with rare disorders meet for the first time, new perspectives open up. Exchange of experience and feelings, establishing lay organizations, collating and distributing information to professionals and families are some of the important results of the Frambu courses.
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PMID:Frambu Health Centre: promoting family focused care for disabled children. 622 40

Preimplantation genetic diagnosis was performed in 122 embryos obtained by IVF from 11 patients carriers of haemophilia, Duchenne's muscular dystrophy, Barth's syndrome, cystic fibrosis, Pelizaeus-Merzbacher syndrome or Rett's syndrome. After multiplex polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) analysis with multiple probes, 28 embryos diagnosed as not affected were replaced. Of these, eight implanted (28%) and produced three ongoing pregnancies, three deliveries of four babies and a biochemical pregnancy. However, one case screened for cystic fibrosis was misdiagnosed and the pregnancy was terminated. In order to evaluate the efficiency of multiplex PCR, 55 non-replaced embryos were reassessed by PCR or by FISH. Identical results were obtained in all cases. However, one embryo which had only X-chromosome specific amplification by PCR was found to be XO in all its cells by FISH. Although multiplex PCR is demonstrated to be reliable for sexing of human embryos, FISH has the additional advantages of supplying ploidy assessment while not being affected by contamination.
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PMID:Healthy deliveries from biopsied human embryos. 792 42

One of the limitations of existing assisted reproduction practices is that couples at genetic risk to their offspring have to face the abortion of an affected fetus following prenatal diagnosis. This is not acceptable as a measure to avoid a congenital disease in many communities or ethnic groups, where there is a great need for a method to diagnose and avoid the affected embryo before implantation and establishment of the pregnancy. In fact, preimplantation diagnosis is needed also for those who accept prenatal diagnosis as an option to avoid the birth of an affected child, because in most of the cases the couples are at high (25-50%) risk of having a child with a recessive or dominant disease, leading to their unfortunate experience of undergoing two or more abortions of wanted pregnancies. Two methods for preimplantation genetic diagnosis (PGD) have been recently developed and implemented in the framework of IVF. PGD can be performed by micromanipulation and biopsy of the first polar body before fertilization, or by blastomere biopsy before implantation of the pre-embryo. Another potentially realistic approach is blastocyst biopsy, which is still under development and has not yet been tested in clinical practice. Available data suggest that preimplantation diagnosis is safe, as no detrimental effects have been observed in studies on the viability of biopsied pre-embryos. Genetic analysis of biopsied gametes and blastomeres is now possible by DNA analysis, while enzyme analysis and preimplantation diagnosis of chromosomal disorders are still at the research stage. The accuracy of DNA analysis in preimplantation diagnosis is clear from available data on the outcome of preimplantation diagnosis: eight children free of genetic disease have been born following preimplantation diagnosis of cystic fibrosis, haemophilia A and other X-linked conditions. However, two misdiagnoses have been also described, showing the need for further development and improvement in the accuracy, efficiency and efficacy of DNA analysis in single cells. A particularly important implication for assisted reproduction practices can be expected from the further development and improvement of methods for preimplantation cytogenetic analysis. Although the efficiency and efficacy of these methods are not yet acceptable for application in clinical practice, considerable progress has been made, providing clear evidence for their feasibility in the near future. In spite of the high cost of the preimplantation diagnostic technique at present, its development is highly justified for high risk families as it provides a wider range of options for avoiding the risk of having an affected child.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Human preimplantation diagnosis: needs, efficiency and efficacy of genetic and chromosomal analysis. 805 73


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