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M Goossens

Publications and source records attributed to M Goossens.

At least 217 records · Page 12Linked to original sources
PubMed1986

[DNA polymorphism in beta-thalassemia: a study of 15 families in Tunisia].

In order to perform prenatal diagnosis of beta-thalassemia by DNA analysis in Tunisia, we investigated molecular defects and their frequencies. We have determined which haplotypes are associated with beta zero or beta +-thalassemia phenotypes. Six of the haplotypes described by Orkin were observed among 15 patients homozygous for beta zero (11) or beta +-thalassemia (4). We also investigated the molecular defects. The frameshift mutation in codon 6, characterized by Mst II seems more frequent than the beta 39 non sense mutation indicating that Tunisian patients differ from other Mediterranean patients from Algeria or Italy. Results concerning beta +-thalassemia are too preliminary to draw any conclusion. The study is currently being enlarged with other molecular probes and restriction enzymes.

DNA↗
PubMed1986

[Alpha-thalassemia in Tunisia: molecular bases of hemoglobinosis H].

We report the study by restriction mapping of alpha genes in a case of Hb H disease in Tunisia. The genotype is: -alpha/-alpha which by itself is not usually responsible for the HbH phenotype. We postulate that the two remaining alpha genes are dysfunctional, this is under study.

Child↗
PubMed1985

Sternocostoclavicular hyperostosis. A case report and review of the literature.

Sternocostoclavicular hyperostosis (SCCH) or intersternocostoclavicular ossification is a recently recognized disorder of unknown origin. SCCH is characterized by painful, condensing hypertrophy of the sternum, both clavicles, and the upper ribs. Since its original description by Sonozaki in 1974, approximately 40 cases have been reported, mainly in the Japanese literature. This peculiar hyperostotic syndrome is often misdiagnosed. The differentiation from osteitis deformans can be difficult. Clinically, the disease produces a swelling in the upper chest area with persistent, pulling pain exacerbated by cold and dampness. The condition is a nonspecific inflammatory syndrome. Radiographs usually show symmetric hyperostosis of the sternal portions of the clavicles, synostosis of the sternoclavicular joints, a thickened sternum, and varying degrees of involvement of the upper ribs and intercostoclavicular space. Biopsy specimens reveal hyperostotic sclerosis of the cancellous bone. Although the cause of the syndrome is unknown, clinical, radiologic, and histologic findings indicate that it represents a distinct entity. The treatment of SCCH remains symptomatic.

Bone Diseases↗
PubMed1984

Cell-free translation of messenger RNA for human bisphosphoglyceromutase.

mRNAs prepared from different human tissues were translated in a cell-free reticulocyte lysate system and, when present, the neosynthesized bisphosphoglyceromutase ( BPGM ) was specifically isolated by immunoprecipitation and analyzed by polyacrylamide gel electrophoresis. Analysis of the translation products showed that bisphosphoglyceromutase was synthesized in vitro with its mature molecular weight and messenger RNA specifying the synthesis of BPGM exhibited a sedimentation coefficient of 12 S in human reticulocytes. This synthesis seems to be highly tissue specific since we could not evidence any synthesis of this enzyme using mRNA obtained from non erythroid tissue. The BPGM synthesis represents 0.1% of the total neosynthesized non heme proteins in human reticulocyte and ten times less (0.01%) in human fetal liver.

Animals↗
PubMed1984

Cell-free translation of human uroporphyrinogen decarboxylase mRNAs.

Uroporphyrinogen decarboxylase was synthesized in a reticulocyte lysate cell-free system under the direction of messenger RNAs isolated from human fetal liver and from human reticulocytes. The enzyme was specifically isolated by immuno affinity chromatography. Analysis of the translation products showed that uroporphyrinogen decarboxylase was synthesized in vitro with its mature molecular weight. This enzyme represented 0.04% of the total neosynthesized proteins under the direction of fetal liver mRNA and about ten times less (0.005%) with reticulocyte mRNA.

Anemia, Sickle Cell↗
PubMed1984

Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylase.

We have cloned and identified a DNA sequence complementary to the mRNA of uroporphyrinogen decarboxylase ( UroDCase ) from rat. This mRNA is a minor species (0.1%) of the total mRNA from anemic rat spleen. Poly(A)+ mRNA was enriched for UroDCase mRNA to 20% purity by a very efficient procedure involving two successive steps of preparative gel electrophoresis under various denaturing conditions. cDNA prepared from partially purified UroDCase mRNA (1% purity) was cloned in the Pst I site of pBR322 by using the homopolymeric G-C tailing method. Primary screening of 500 clones from this cDNA library was performed with a cDNA probe complementary to highly purified mRNA for UroDCase (20% purity) and UroDCase cDNA clones were finally identified by hybrid-selected translation. The rat cDNA clones obtained hybridize to human UroDCase mRNA. This will permit the isolation of the corresponding human gene and molecular analysis of porphyria cutanea tarda, the commonest type of porphyria.

Animals↗
PubMed1984

Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat.

A cDNA clone containing sequences complementary to the mRNA coding for anemic rat spleen porphobilinogen deaminase (EC 4.3.1.8) has been isolated. A cDNA library was prepared from partially purified mRNA (1% purity). This library was then screened by colony hybridization, using a cDNA probe derived from porphobilinogen deaminase mRNA further enriched (10-20% purity) by gel electrophoresis in the presence of methylmercury hydroxide. Colonies hybridizing with the probe were analyzed by hybrid-selected translation using anemic rat spleen mRNA. Four recombinant plasmids containing porphobilinogen deaminase cDNA sequences were identified by specific immunoprecipitation of the translational product from hybrid-selected mRNA. Porphobilinogen deaminase mRNA was shown to contain 1800 bases by blot hybridization analysis. The cloned cDNA sequence consists of 1500 bases. Hybridization analysis of poly(A)+ RNA from uninduced and induced mouse erythroleukemic cells indicated that induction to erythroid differentiation by dimethyl sulfoxide results in a 10-fold increase of porphobilinogen deaminase mRNA. The rat cDNA clones hybridize to the corresponding sequences encoding human porphobilinogen deaminase. This property will be useful for isolation of human gene(s) and further characterization of the molecular lesion(s) responsible for acute intermittent porphyria.

Ammonia-Lyases↗
PubMed1984

Two new cases of heterozygosity for hemoglobin Knossos alpha 2 beta 2 27 Ala----Ser detected in the French West Indies and Algeria.

Hb Knossos alpha 2 beta 2 27 Ala----Ser was first described in a Greek family as a silent beta(+) thalassemia variant. Reexamination of 5,000 isoelectric focusing patterns of patients with microcytosis allowed the presumptive identification of two additional propositi. The first originated in the French West Indies (Martinique) and the second in Algeria. A branch of the family of the second propositus was also investigated. Identification of Hb Knossos was made easily in the first family since one member was a double heterozygote for Hb S and Hb Knossos. In the second family HPLC elution of the peptide fragments obtained by tryptic digestion of the aminoethylated beta chain allowed the isolation and characterization of an abnormal beta T3 peak with expected beta 27 Ala----Ser substitution. The Hb Knossos heterozygote from Martinique, besides an elevated alpha/beta globin chain ratio, had an elevated Hb A2 concentration in contrast to the Greek and Algerian families in which it was normal. This difference in phenotypes may be explained by the occurrence in the Mediterranean cases of a delta gene abnormality, presumably delta(0) thalassemia, in position cis to the abnormal beta-globin gene.

Adolescent↗
PubMed1984

[Biopsy of chorionic villi by forceps under ultrasonic control: technic and results].

We describe an original technique for villi sampling using a rigid forceps under ultrasound control. 120 chorion biopsies were performed, the success rate of sampling is 100%, the samples are pure without any maternal contamination in 90% of cases. The fetal loss rate needs further evaluation because the number of continuing pregnancies is still too small to allow enough accurate assessment. No miscarriage was observed among our last 70 patients. At the beginning of our experience we preferred to start our diagnoses only for high genetic risk diseases: haemoglobinopathies, hereditary metabolic diseases, lethal X-linked diseases. We insist on the efficiency and the quickness of this method and on the quality of the samples which makes the diagnosis safer.

Biopsy↗
PubMed1983

Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.

Abortion, Therapeutic↗
PubMed1983

Lisfranc's fracture-dislocations: etiology, radiology, and results of treatment. A review of 20 cases.

Tarsometatarsal fracture-dislocation is an uncommon but severe lesion. Since this diagnosis is over-looked in about 20% of cases, accurate radiographic examination is imperative. In the presence of suggestive clinical signs and negative standard roentgenograms, stress-films in eversion-pronation and inversion-supination are obtained under general anaesthesia. A review of 20 cases shows that plaster cast immobilization without reduction is unsatisfactory, often resulting in Südeck's atrophy and subsequent painful degenerative arthritis. Secondary fusion may be necessary to relieve symptoms. The treatment of choice is anatomic reduction and transfixation with Kirschner wires. The major complication is arterial damage with necrosis of the forefoot. Amputation may be necessary.

Adolescent↗
PubMed1981

Two cloned beta thalassemia genes are associated with amber mutations at codon 39.

Two beta globin genes from patients with the beta(+) thalassemia phenotype have been cloned and sequenced. A single nucleotide change from CAG to TAG (an amber mutation) at codon 39 is the only difference from normal in both genes analyzed. The results are consistent with the assumption that both patients are doubly heterozygous for beta(+) and beta degrees thalassemia, and that we have isolated and analyzed the beta degrees thalassemia gene.

Base Sequence↗