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Biomedical subjects

R Favre

Publications and source records attributed to R Favre.

At least 199 records · Page 11Linked to original sources
PubMedDate not supplied

Graphic-aided study of metabolic modifications of plasma in cancer using proton magnetic resonance spectroscopy.

Proton high-resolution MRS of human plasma allows the rapid detection, on the same spectrum, of many compounds originating from different metabolic pathways. In this paper, we illustrate the modifications of the plasma metabolic profiles recorded by proton NMR spectroscopy in different classes of cancers. These modifications can be easily monitored with graphic aids such as 'star plots' which define for each type of cancer a particular pattern describing the most altered metabolic pathways. By using 'star plots' three types of metabolic patterns have been distinguished: (i) the 'inflammatory' pattern characterized by an increase of glycosylated moieties of glycoproteins; (ii) a 'lipid modified' pattern, characterized by various modifications occurring mainly in the lipid moieties detected by MRS; and (iii) a pattern which is often observed in sarcomas and mainly characterized by an alteration in the N-acetyl glucosamine/N-acetyl neuraminic acid ratio. This study demonstrates the ability of proton MRS of plasma to rapidly detect the occurrence of metabolic modifications brought about by cancer evolution or therapy.

Acetylglucosamine↗
PubMedDate not supplied

Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.

The purpose of this study was to evaluate the foetal sonographic efficiency for prenatal diagnosis of osteochondrodysplasias. Forty-seven prenatal and postnatal cases diagnosed between January 1993 and December 1998 in the referral sonographic centres of Strasbourg were studied. All cases were reviewed retrospectively and the prenatal ultrasound findings and diagnosis were compared to the postnatal or post-mortem diagnosis. Each case was studied by ultrasonographers, geneticists, radiologists, and foetopathologists. Final diagnosis was based on clinical examination, skeletal survey and molecular testing as deemed necessary. Routine screening and dating was the indication for foetal sonography in 72% (32/47) of our cases. The most likely time of diagnosis was between 16 and 24 weeks of gestation (17 out of 47 cases, 36%), which corresponds to the time of foetal anomaly sonographic scan in France. The other cluster of cases (12 among 47, 26%) was disclosed before 16 weeks of gestation. These results illustrate the importance of a detailed evaluation of the limbs during sonographic examinations of first and second trimesters of pregnancy. While the identification of skeletal dysplasias was relatively easy in our study, the ability to make an accurate specific antenatal diagnosis was more difficult. An accurate diagnosis was proposed in 28 of the 47 cases (60%). In 19% of the cases (9/47), the prenatal diagnosis was not accurate; in 21% of the cases (10/47), the prenatal diagnosis was imprecise. In 45 of the 47 cases (96%) prenatal foetal scan correctly predicted the prognosis.

Bone and Bones↗
PubMedDate not supplied

In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy.

Prenatal diagnosis for Duchenne muscular dystrophy can usually be performed using DNA analysis. This approach would be impossible when there is only one prior affected male and no identifiable gene deletion. Therefore, in utero fetal thigh muscle biopsy with direct examination of muscle by dystrophin analysis may provide the only means of prenatal diagnosis. We report such a case in which fetal muscle biopsy was able to exclude Duchenne muscular dystrophy. A detailed literature review of the topic is provided.

Biomarkers↗
PubMedDate not supplied

A quantitative study of normal nephrogenesis in the human fetus: its implication in the natural history of kidney changes due to low obstructive uropathies.

An evaluation of nephrogenesis according to fetal age was performed by quantifying the state of the nephrogenic blastema (NB) and the number of glomeruli (GN) on frontal renal sections in 99 control fetuses (gestational age ranging from 9 to 40 weeks) and in 17 aborted fetuses with low urinary tract obstruction (gestational age ranging from 14 to 36 weeks). In the control group, GN increases slowly from the 10th to the 18th week, then abruptly from the 18th to the 32nd week, reaching an upper limit with NB disappearance by the 32nd week. In the uropathy group, the renal changes show a wide range of severity clearly accounted for by the impairment of both NB and GN. The dysplastic effect of urinary backpressure is the more consistent pathogeny with the spectrum of observed renal changes. It is likely, from GN used as a time-dependent marker of renal development, that the most severe dysplasia is the result of early obstruction with abnormal disappearance of NB and subsequent arrest of nephrogenesis.

Female↗
PubMedDate not supplied

Congenital toxoplasmosis in twins: a case report.

We report a case of congenital toxoplasmosis in a twin pregnancy at 21 weeks of gestation. The complete antenatal investigation included ultrasound examination, cordocentesis and amniocentesis. The ultrasonographic evaluation showed a distinct morphological aspect confirmed by the fetal biological profile. The time lag between placental and fetal infection, or the immunological fetal responses could explain the varying stages of the fetal disease. This is another case which early demonstrates that there may exist a distinct clinical pattern in bichorial pregnancy with varying biological fetal responses. It underlines the importance of cordocentesis in the case of maternal toxoplasma seroconversion, enabling us to gather a maximum number of biological data for complete appreciation of the fetal status. The information obtained permits a precise adaptation of the medical decision.

Abortion, Induced↗
PubMedDate not supplied

Endovaginal sonographic diagnosis of craniorachischisis at 13 weeks of gestation.

A rare case of craniorachischisis associated with trisomy 18 is described. The diagnosis was made by endovaginal sonography during the first trimester of pregnancy. The case is interesting for two reasons. First, it confirms the importance of carrying out an accurate sonographic examination during the first trimester. Second, it shows us that the postmortem examination should be performed by an experienced anatomist: embryos need to be embedded in paraffin wax for microscopic observation and, at present, little is known about the abnormalities of embryo anatomy.

Adult↗
PubMedDate not supplied

How to deal with a rare entity: the coexistence of a complete mole and a healthy egg in a twin pregnancy?

The association of a normal and a molar egg within a twin pregnancy is extremely rare. The key to diagnosis is the fetal karyotype, thus allowing elimination of its principal differential diagnosis: partial triploid mole. We report a case where the evolution of the pregnancy was complicated by severe toxemia. Interruption of pregnancy was then necessary, even though a conservative attitude had first been considered. Throughout this case, we discuss the means of diagnosis and the clinical handling of this rare entity.

Abortion, Therapeutic↗
PubMedDate not supplied

Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome.

Three-dimensional (3D) imaging permits surface reconstructions that allow a better view of the appearance of organs. We report a case of a fetus with cystic hygroma diagnosed at 11 weeks of gestation, associated with a diaphragmatic hernia. With the 3D reconstruction, we examined the fetal face much more easily, which presented facial dysmorphology, retrognathia, macrostomia and a broad nasal bridge. The conjunctions of these pathological features and a normal karyotype allowed to establish a prenatal diagnosis of Fryns syndrome, confirmed by autopsy.

Adult↗
PubMedDate not supplied

Diagnosis and successful in utero treatment of a fetal goitrous hyperthyroidism caused by maternal Graves' disease. A case report.

A case of maternal treated Graves' disease associated with hyperthyroid fetal goiter is presented. Fetal goiter is diagnosed by ultrasound and hyperthyroidism is confirmed by fetal blood sampling. Fetal thyroid status is normalized by maternal carbamizole treatment whereas the mother is euthyroid with replacement therapy after subtotal thyroidectomy. Repeated funipuncture allows us to adjust the fetal treatment. The infant is euthyroid at birth. Pathogenesis, diagnosis and treatment of fetal thyrotoxicosis complicated with maternal Graves' disease are discussed.

Adult↗
PubMedDate not supplied

[The association of lupus and Hodgkin's disease. A case history (author's transl)].

The authors report the observation of a young woman 22 years of age having presented the clinical and biological manifestations of disseminated lupus erythematosis, followed more than one year later by the appearance of Hodgkin's disease. Several etiopathological hypothesis concerning this association have been discussed but the experimental work of Schwartz has permitted the finding of a common denominator for these two diseases: a RNA virus, type C.

Adult↗