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Biomedical subjects

M O Peter

Publications and source records attributed to M O Peter.

14 recordsLinked to original sources
PubMed1999

Involvement of Panton-Valentine leukocidin-producing Staphylococcus aureus in primary skin infections and pneumonia.

Panton-Valentine leukocidin (PVL) is a cytotoxin that causes leukocyte destruction and tissue necrosis. It is produced by fewer than 5% of Staphylococcus aureus strains. A collection of 172 S. aureus strains were screened for PVL genes by polymerase chain reaction amplification. PVL genes were detected in 93% of strains associated with furunculosis and in 85% of those associated with severe necrotic hemorrhagic pneumonia (all community-acquired). They were detected in 55% of cellulitis strains, 50% of cutaneous abscess strains, 23% of osteomyelitis strains, and 13% of finger-pulp-infection strains. PVL genes were not detected in strains responsible for other infections, such as infective endocarditis, mediastinitis, hospital-acquired pneumonia, urinary tract infection, and enterocolitis, or in those associated with toxic-shock syndrome. It thus appears that PVL is mainly associated with necrotic lesions involving the skin or mucosa.

Bacterial Toxins↗
PubMed1999

Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.

Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.

Contracture↗
PubMed1998

Evaluation of prenatal diagnosis of congenital heart disease.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially where congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high risk groups. Thanks to our registries of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 92,021 consecutive pregnancies of known outcome from 1990 to 1993. Only 107 out of 779 malformed fetuses with CHDs without chromosomal anomalies were detected (13.7 per cent). The sensitivity of detection varied from 50 per cent for malformations, such as hypoplastic left heart and single ventricle, to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite, clear, four-chamber view, to perform scans at > 18 weeks' gestation and to train sonographers in order to improve prenatal detection of CHDs.

Abnormalities, Multiple↗
PubMed1997

[Superior sagittal sinus thrombosis and nephrotic syndrome: favorable outcome with low molecular weight heparin].

BACKGROUND: Nephrotic syndrome is known to be associated with thrombosis but rarely of cerebral vessels. CASE REPORT: A 3-year old child with steroid-dependent nephrotic syndrome was hospitalized for drowziness followed by a left hemiparesis. The CTscan showed a superior sagittal sinus thrombosis. The child completely recovered after treatment by low molecular weight heparin (LMWH). CONCLUSION: LMWH could be used for preventing and/or treating thrombosis associated with nephrotic syndrome. Nevertheless, controlled studies are necessary for assessing its efficacy and absence of risk in children.

Anticoagulants↗
PubMed1997

Brachytelephalangic chondrodysplasia punctata in a female child.

We report a case of a female child born to nonconsanguineous parents who at birth presents a facial dysmorphism including flattened and hypoplasic nose associated with epiphyseal stippling of the tarsal bones, the right hip, the cervical, lumbar, and sacral regions of the spinal column, and hypoplasia of the distal phalanges of the fingers. The current pregnancy history was negative for exposure to alcohol or drugs. The karyotype was normal. The clinical and radiological features strongly suggest brachytelephalangic chondrodysplasia punctata. Described in males, this condition has not previously been detected in a female; its gene has been assigned to Xp22.3. The present observation of brachytelephalangic chondrodysplasia punctata in a female questions the genetic heterogeneity of this syndrome.

Chondrodysplasia Punctata↗
PubMed1991

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Linkage data for familial incontinentia pigmenti (IP2) and nine X chromosomal markers are reported. Previously found linkage between IP2 and the DXS52 locus is confirmed with the maximum lod score of 6.19 at a recombination fraction of 0.03. Linkage is also established with loci DXS134, DXS15 and DXS33. Multipoint analysis allows us to localize the IP2 locus outside a block of seven linked markers of the Xq28 region.

Chromosome Mapping↗
PubMed1990

Distal trisomy 14q. I. Clinical and cytogenetical studies.

Two cases of de novo duplication of the distal part of the long arm of chromosome 14 are reported. In one case, the partial trisomy of 14q is due to translocation of a segment (14q24 to 14qter) at the end of the satellite stalk of chromosome 14. The clinical picture is very severe. In the second case, a tandem duplication in 14 (q23----q32) is present with only minor malformations and mild mental retardation.

Chromosome Banding↗
PubMed1988

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used, six of them were precisely localized on the X chromosome, using hamster X human somatic cell hybrids containing a broken X chromosome derived from an incontinentia pigmenti patient carrying an X;9 translocation [46,XX,t(X;9)(p11.21;q34)]. The following order for probes is proposed: pter - (DXS7, DXS146, DXS255) - IP1 - (DXS14, DXS90) - DXS106 - qter. The negative lod scores obtained exclude the possibility that in the families studied, the gene for IP is located in Xp11 or in the major part of the Xp arm.

Animals↗
PubMed1984

[Gyrate atrophy of the choroid and retina in children. Apropos of 2 cases].

The authors report two familial cases of algerian children with a hyperornithinaemia and a gyrate atrophy. Blood ornithine was 10 to 20 above the normal, lysine and glutamic acid were slightly decreased. Urinary ornithine levels were very high. The enzymatic activity of the ornithine keto-acid transaminase was not detectable in the patients skin fibroblasts. It was more than half the normal value in the children's mother. Owing to a better knowledge of the biochemical abnormalities a poor protein, poor arginine and more recently proline added diet has been recommended in order to alter the development of ocular lesions. Unfortunately the authors did not have the opportunity of following the children long enough to assess the result of this treatment.

Algeria↗
PubMedDate not supplied

[Lethal syndromes with thin bones].

The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.

Bone Diseases, Developmental↗
PubMedDate not supplied

[Neonatal form of isovaleric acidemia. Apropos of a new case].

The case reported concerns a 18 day-old girl who was hospitalized for severe toxemia. The nauseous smell, and significant ketonuria led us to suspect a disorder in amino-acids metabolism. Diagnosis was proven by gas chromatography. With adequate diet, evolution was favourable and the child had a normal psycho-motor development.

Amino Acid Metabolism, Inborn Errors↗