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2.
Article in French | MEDLINE | ID: mdl-2258595

ABSTRACT

The authors report a case of pregnancy in a patient suffering from moderately severe cystic fibrosis (the syndrome consisted of diffused obstruction in respiratory function with a vital capacity of 79% and the lowered blood oxygen level with arterial blood gas estimations; oxygen saturation was 94%). The condition was marked by temporary worsening during the pregnancy in which infective bronchitis supervened). She also threatened to go into early labour and did in fact deliver at 36 1/2 weeks of an infant which was normal for the duration of the maturity. The authors review previous known facts about cystic fibrosis. A study of the literature has made it possible to be more accurate in describing methods of ante natal diagnosis of the condition and ways of following the pregnancy and the illness as well as the woman's fertility and her ability to breast feed.


Subject(s)
Cystic Fibrosis/physiopathology , Pregnancy Complications/physiopathology , Cystic Fibrosis/genetics , Cystic Fibrosis/therapy , Embryonic and Fetal Development , Female , Fetal Monitoring , Humans , Lung Volume Measurements , Pedigree , Pregnancy , Pregnancy Complications/therapy , Ultrasonography, Prenatal
4.
J Genet Hum ; 37(1): 43-9, 1989 Jan.
Article in French | MEDLINE | ID: mdl-2565952

ABSTRACT

Enzymatic prenatal diagnosis of cystic fibrosis was performed in 113 amniotic fluids and DNA polymorphism was studied in 104 families, including 28 cases with prenatal material analysis. According to the results, the enzymatic diagnosis should be cautiously interpreted when the risk is less than 1/4. In these situations DNA analysis in the parents is very helpful to assess the reliability of enzymatic diagnosis.


Subject(s)
Cystic Fibrosis/diagnosis , Amniotic Fluid/enzymology , Cystic Fibrosis/genetics , DNA Probes , Haplotypes , Humans , Polymorphism, Restriction Fragment Length , Prenatal Diagnosis , Risk
5.
Hum Genet ; 81(2): 183-4, 1989 Jan.
Article in English | MEDLINE | ID: mdl-2563252

ABSTRACT

In 237 French families with cystic fibrosis (CF) restricted fragment length polymorphisms (RFLPs) were detected by two DNA probes, XV-2c and KM-19, which are tightly linked to the CF allele. As in other European populations linkage disequilibrium is found between the haplotype B (XV-2c, allele 1: KM-19, allele 2) and the CF allele. Linkage disequilibrium alters the probability that a person bearing a given haplotype is a carrier.


Subject(s)
Cystic Fibrosis/genetics , Genetic Linkage , Genetic Markers , Haplotypes , France , Humans , Polymorphism, Restriction Fragment Length
6.
Ann Rheum Dis ; 46(1): 65-71, 1987 Jan.
Article in English | MEDLINE | ID: mdl-3813676

ABSTRACT

One hundred patients with rheumatoid arthritis (RA), of whom 73 were seropositive by latex or Waaler-Rose (WR) assays, or both, 100 healthy subjects, and 102 diseased controls (22 patients with systemic lupus erythematosus (SLE) and 80 with bronchial asthma) were evaluated for the presence of IgM rheumatoid factor (RF), IgA RF, IgE RF, and IgG RF by an enzyme linked immunosorbent assay (ELISA). Ninety two per cent, 65%, 68%, and 66% of the patients with RA were found to be positive for IgM, IgA, IgE, and IgG respectively. A positive correlation existed between the levels of IgM RF and IgA RF on the one hand and disease activity on the other, and the levels of IgM RF and IgA RF correlated with the levels of circulating immune complexes as measured by a C1q binding assay. The presence of extra-articular features also correlated positively with the levels of IgA RF and IgE RF. Five out of six patients with Sjögren's syndrome had very high levels of IgA RF. Of 47 patients typed for HLA-DR, DR1 and DR2 were significantly more frequent in those with the highest levels of IgM RF. Conversely, DR3 was associated with low levels or absence of IgA RF and IgE RF. These results suggest that immune response genes may regulate the level of different RF isotypes. The frequencies of IgM, IgA, IgE, and IgG RF were 59%, 36%, 9%, and 27% respectively in SLE and 25%, 2.5%, 70%, and 59% in bronchial asthma.


Subject(s)
Arthritis, Rheumatoid/immunology , Immunoglobulins/analysis , Rheumatoid Factor/immunology , Adult , Aged , Enzyme-Linked Immunosorbent Assay , Female , HLA-DR Antigens/analysis , Humans , Immunoglobulin A/analysis , Immunoglobulin E/analysis , Immunoglobulin G/analysis , Immunoglobulin M/analysis , Male , Middle Aged , Rheumatoid Factor/analysis
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