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Biomedical subjects

F Giraud

Publications and source records attributed to F Giraud.

At least 19 recordsLinked to original sources
PubMed1992

Central pulmonary thromboembolism: diagnosis with spiral volumetric CT with the single-breath-hold technique--comparison with pulmonary angiography.

Forty-two patients were prospectively evaluated with spiral volumetric computed tomography (CT) and selective pulmonary angiography of each lung to detect central pulmonary thromboembolism. Spiral volumetric CT images obtained with either 90 mL of 30% contrast material or 120 mL of 12% contrast material were graded as excellent or good in 98% of the examinations (41 patients). Diagnosis of pulmonary embolism with spiral volumetric CT was based on the direct visualization of intraluminal clots: partial filling defects (n = 41; 37%), complete filling defects (n = 51; 46%), "railway track" signs (n = 6; 5%), and mural defects (n = 14; 12%). All 23 patients with normal findings of spiral volumetric CT had normal findings of pulmonary angiography. With spiral volumetric CT, the finding of 112 central emboli (eight main, 28 lobar, and 76 segmental) corresponded exactly to the angiographic findings, but nine intersegmental lymph nodes were erroneously interpreted as filling defects. In one case of normal pulmonary angiographic findings, asymmetry in pulmonary arterial perfusion was misinterpreted as pulmonary embolism with spiral volumetric CT. Spiral volumetric CT can reliably depict thromboemboli in second- to fourth-division pulmonary vessels.

Adult↗
PubMed1992

[A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I].

Phenylalanine, the direct precursor of tyrosine, is rarely increased in tyrosinemia I. We report on a case of tyrosinemia type I diagnosed through neonatal hyperphenylalaninemia. This case report points out the need for a biological evaluation of the hepatic function in cases of neonatal hyperphenylalaninemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1992

[Vitamin D-resistant rickets type II: apropos of 2 cases].

We present two cases of vitamin D-dependent rickets type II, a rare disease caused by a hereditary disorder of the receptor for 1,25 dihydroxyvitamin D (1,25 (OH) 2 D). The first patient was seen for the first time at the age of 2 years with florid rickets, almost complete alopecia, and an elevated plasma level of 1,25 (OH) 2 D; there was no improvement following treatment with 1 alpha-hydroxy-vitamin D3). The second patient, a boy whose parents are first cousins, was seen at the age of 7 years with severe rickets, partial alopecia and an elevated serum level of 1,25 (OH) 2 D; the rickets disappeared after administering high doses of 1 alpha hydroxyvitamin D3 and vitamin D.

Alopecia↗
PubMed1992

[Molecular biology in genetic counseling of Duchenne and Becker myopathy].

From 1985-1991, molecular biology studies were carried out in 115 families affected with X-linked muscular dystrophy (DMD/BMD), including 59 prenatal diagnoses. The approach has changed over the last 6 years when new intragenic markers and cDNA probes became available. The polymerase chain reaction technique allows a rapid detection of dystrophin deletions, but classical Southern blot technique remains useful for restriction length polymorphism analysis. Fifty percent (42/85) of patients with DMD/BMD exhibited deletions of the dystrophin gene. In affected families with a detectable deletion, carrier detection is possible by gene dosage analysis and prenatal diagnosis is reliable. When no deletion is found, carrier detection and prenatal diagnosis depends on linkage analysis using polymorphic probes. Due to the high recombination rate, several markers need to be used. The information provided by linkage analysis must be interpreted given the proper family structure.

Female↗
PubMed1992

[Endoscopic bronchial exploration under local anesthesia in children].

One hundred and forty-two flexible fiberoptic bronchoscopies were carried out in 1 year, under local anaesthesia, in 123 children aged between 15 days and 17 years. Indications were tuberculosis (n = 26), persistent pneumonia (n = 20), suspected foreign body or control after extraction (n = 18), asthma (n = 17), atelectasis (n = 14), recurrent pneumonia (n = 13), opportunistic pneumonia (n = 11), permanent bronchial obstruction (n = 10), miscellaneous disease (n = 13). Fiberoptic bronchoscopy was abnormal in 101 patients (80%) and led to a change in the treatment in 84 cases (68%). True complications (n = 5) were all transient and were followed by complete recovery. Flexible fiberoptic bronchoscopy under local anaesthesia is a simple and safe procedure. It is an essential diagnostic and therapeutic tool in the management of pediatric respiratory disorders.

Adolescent↗
PubMed1979

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Three patients have been detected because of abnormal phenotypes. Balanced chromosome rearrangements were found in their karyotypes, and in one of the parents in each case. In these three families the association of an abnormal phenotype and a balanced chromosome rearrangement may either be a chance happening or be induced by a submicroscopic loss of chromosome material, for which different position effects may be responsible, according to the case in question. These observations prompt us to ask what decision should be made relative to termination of pregnancy if such a rearrangement is found in amniotic cells in a family with a previous abnormal child.

Adult↗
PubMed1979

Origin of the extra chromosome in trisomy 21.

Of 61 families of children with trisomy 21, polymorphism of chromosome 21 elucidating the origin of the extra chromosome was found in 42. Nondisjunction was of paternal origin in 8 cases (19.04%) and the anomaly occurred with equal frequency during the first and second meiotic divisions. Maternal nondisjunction was demonstrated in 34 cases (80.95%), in which nondisjunction occurred by far the most often during the first meiotic division (29 cases). These results are in agreement with data from the literature, and suggest the existence of at least two different causes for chromosomal nondisjunction, the first being the same in both sexes and occurring in both meiotic divisions and the second specifically limited to the first meiotic division in the mother.

Chromosome Banding↗
PubMed1979

Dermatoglyphics in parents of children with trisomy 21. Evaluation of their interest in genetic counselling.

Dermal patterns in a group of Down's syndrome patients, a normal control population and a group of parents of Down's syndrome patients were studied in an attempt to identify an Index Score to be used in differentiating controls from parents of Down's syndrome children. Using only three patterns (simian crease, palmar hypothenar pattern and Cummins' Index), a parents' Index Score was established which correctly diagnosed 80.83% of controls and 79.17% of parents. The predictive value of this index and its interest in genetic counselling are discussed.

Child↗
PubMed1979

Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree.

Biopsy↗
PubMed1979

Distribution of spontaneous chromosome breaks in man.

The distribution of break points in human chromosomes was analyzed in 15,754 metaphases from 1084 patients. A total of 1099 breaks were specifically localized to a chromosome band or region depicted in the PARIS CONFERENCE (1971) report. The sites of the breaks were very different from the expected random distribution and showed distinct clustering of breaks in some regions. These observations underline the heterogeneity of chromosomal material and furnish comparative data for the study of cytotoxic agents and constitutional chromosomal fragility.

Chromosome Aberrations↗
PubMed1979

[Partial trisomy 21].

Three mentally retarded children with partial trisomy 21 who looked like children with complete trisomy 21 had increased activity of superoxide dismutase A. This emphases the pathogenic role of the 21q22 band in this condition.

Adolescent↗