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B Lauras

Publications and source records attributed to B Lauras.

At least 19 recordsLinked to original sources

[Interest of gene amplification by PCR for the diagnosis of Mycoplasma pneumoniae infections in the child].

Between december 1996 and february 1998, rhinopharyngeal and tracheal aspirates from 165 children exhibiting symptoms compatible with M. pneumoniae infection were tested by a PCR method using in the same tube primers specific for M. pneumoniae P1 adhesin gene and for a human control gene. The positive cases were controlled using culture and/or serology. PCR was positive in 22 out of 165 samples (13.3%); an evaluation of the clinical and biological data was possible in 20 of these infected children. From 17 PCR positive respiratory samples tested by culture, 13 (76.5%) grew M. pneumoniae. From 14 serum specimens tested by ELISA, 12 exhibited specific IgM (3 of them with low titers); cold agglutinins were detected in all 7 tested sera. Only one case was not confirmed by any of the 3 former markers. The mean age of patients was 8.1 years. The main clinical symptoms included fever > 38 degrees C, cough, clinical and radiological pneumonia in 90, 95, 50 and 85% of cases, respectively. Neurological symptoms were the main clinical manifestation in 3 patients; another child exhibited a pneumonia associated to an hemophagocytic syndrome and a bone marrow failure which needed a graft. These results emphasize the value of PCR for the rapid diagnosis of M. pneumoniae infection in children.

Adhesins, Bacterial↗

Arbitrarily primed PCR, ribotyping, and plasmid pattern analysis applied to investigation of a nosocomial outbreak due to Enterobacter cloacae in a neonatal intensive care unit.

In December 1992, Enterobacter cloacae was isolated from the oropharynx and respiratory tract of six ventilated neonates hospitalized in the intensive care unit (ICU) of our hospital. To establish the spread of the outbreak, 41 strains of E. cloacae were analyzed for genotypic markers by three methods: plasmid profile analysis, ribotyping with EcoRI or PvuII endonuclease, and arbitrarily primed (AP) PCR. The tested strains included 12 isolates from the 6 epidemic cases, 4 isolates from the respiratory tract of 4 children hospitalized in other wards during the same period, 13 isolates from 12 children hospitalized in pediatric units before or after the outbreak, and 12 epidemiologically unrelated isolates. Ribotyping and AP PCR demonstrated that each of the last 12 strains exhibited distinct genomic patterns, as did each of the strains isolated from neonates hospitalized before or after the epidemic peak. Conversely, two clones of strains were found among the isolates recovered in December, with concordant results being obtained by the three typing methods: the first clone included seven strains from five ventilated children in the ICU and two children from another ward; another clone was shared by one neonate in the ICU and an infant from another ward. These results indicate that ribotyping and AP PCR-the latter applied, to our knowledge, for the first time to the genotypic analysis of E. cloacae--represent very discriminatory tools for the investigation of nosocomial outbreaks caused by this species.

Bacterial Typing Techniques↗

Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures.

Since 1987, we have had experience with 13 prenatal diagnoses of 11 women at risk for the fragile X syndrome by cytogenetic studies on amniotic fluid cultures. The induction method included TC 199 medium and methotrexate. Results were obtained in all cases. Ten were males and three were prenatally diagnosed as being affected. Three were females and none of them was fra(X)-positive. Results were confirmed in 10/13 cases. In these cases, we had neither false-positive nor false-negative results.

Amniocentesis↗

Collagen biosynthesis in a case of infantile myofibromatosis.

Cells from a skin nodule from a patient with a recurrent form of familial myofibromatosis were cultivated in vitro. A metabolic study showed that these cells behaved like fibroblasts with collagen synthesis, a normal percentage of type III collagen, hydroxylation rate and the ability to contract a collagen gel. The main disturbances were the decreased synthesis and increased cell multiplication rate after a lag phase. This behavior was compared with that of a fibroblast culture from normal skin.

Collagen↗

[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].

Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.

Creatine Kinase↗

Six cases of partial duplication-deficiency 21 syndrome: 21(dupq22delp23) due to maternal pericentric inversion: inv(21)(p12;q22). A family study.

Six probands, apparently not related, with a minimal phenotype of Down's syndrome were investigated between 1970 and 1984 in our laboratory. We found in all of them an identical chromosomal abnormality 46,XX or XY,-21,+ der21(dupq22delp23). The der 21 was due to aneusomie de recombinaison, each mother having an abnormal chromosome 21: inv(21)(p12;q22). The fathers' caryotypes were normal. All parents were young and healthy. Pedigrees were established in order to find a relationship between these families. Four of our probands could be related. Familial investigations are still in progress for the last two cases; the ancestors being born in the same small geographical area (within 50 km2) we think that we shall be able to establish a relationship with the others families.

Child, Preschool↗

[Congenital atrophoderma in multiple plaques. A new clinical form of mastocytosis?].

The authors report the case of an eight-day-old male child with multiple yellowish atrophic plaques, approximately 2 to 10 cm in diameter, on the scalp, neck and abdomen. Darier's sign was negative. No visceral involvement was detected. Histological examination showed numerous histiocytic-like cells with a foamy cytoplasm throughout the dermis. Metachromasy with toluidine blue stain and naphtol AS-D chloracetate esterase were negative. Mastocytes were identified upon ultrastructural examination which demonstrated long interdigitated villi. Unusual features were the absence of typical cytoplasmic granules and the presence of multiple large electron-lucent vacuoles which were assumed to be stored lipids. The authors hypothesized that chronic stimulation of mastocytes in utero may have led to cell degeneration through an immunologic or pharmacologic mechanism. This could explain the negativity of specific stains for mastocytes and the collagen and elastic damage responsible for the atrophy of the lesions.

Atrophy↗

[Methemoglobinemia in acute diarrhea in infants].

8 cases of methemoglobinemia are observed in infants of 28 days to 138 days of age, who have all acute diarrhea. They are divided in two groups. --4 infants who have eaten for a long time a rich nitrate and nitrite content carrot soup. --4 cases of severe diarrhea with probable endogenous nitrification due to microbial proliferation. The methemoglobinemia level is here not very high and represents more a witness that an alarming symptom. Those infants are compared with 10 infants who have diarrhea without methemoglobinemia. Symptoms and treatment of methemoglobinemia are revisited.

Acute Disease↗

Unusual morphodysplasia as a result of early amnion rupture: umbilico-cephalic adherence.

We present a fetus with an umbilico-cephalic adherence, probably secondary to an early amnion rupture. The fetal ectoderm and the collagenous layers of the chorion can attach as large amounts of fibronectin are present in the amniotic fluid. Until now, no case of this particular type of "amnion rupture sequence" syndrome has been reported.

Abnormalities, Multiple↗

[Sirenomelia and multicystic renal dysplasia. Apropos of 2 cases].

Two cases of sirenomelia with multicystic renal dysplasia (Potter's type II A) are reported. One case was discovered on fetal ultrasonography. Multicystic renal dysplasia in sirenomelia is an additional plea for a primitive mesoblastic defect in the caudal regression syndrome.

Abnormalities, Multiple↗

[Partial monosomy 20q : a new syndrome. Regional assignment of the ADA locus on 20q132 (author's transl)].

A karyotype 46,XY,20q-(q13 leads to qter) was found in an infant with severe mental deficiency, epilepsy, and the following dysmorphic features : upward slanting palpebral fissures, hypoplastic nasal bridge, bulbous nose, long philtrum, microretrognathia, and aplasia of the middle phalanx of fingers and toes. Adenosine deaminase activity was within the hemizygous range, permitting regional assignment of the ADA locus to 20q13 leads to qter.

Abnormalities, Multiple↗