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Biomedical subjects

F Rodesch

Publications and source records attributed to F Rodesch.

At least 73 records · Page 4Linked to original sources

Fetal uropathies: diagnostic pitfalls and management.

Based on the experience of 63 antenatal diagnoses of fetal uropathic conditions we discuss the diagnostic problems, practical implications of antenatal diagnosis and potential indications of in utero intervention. A correct diagnosis was established in 43 of the 63 cases (70 per cent). Diagnostic problems were encountered in differentiating among multicystic dysplastic kidneys and ureteropelvic junction obstruction, dilatation owing to reflux or obstruction and lack of visualization of small hypoplastic kidneys. Transitory urinary tract dilatation was found in 14 cases (22 per cent) and can be responsible for additional false positive findings. Evaluation of the thoracic development and amniotic fluid must be part of the examination, since they are related to severe obstructive uropathy. Repeat examinations are necessary in these cases. During evaluation of the eventual benefit of an in utero decompression one should consider the diagnostic difficulties, mainly the time of onset of fetal uropathic conditions during morphogenesis and the absence of a clinically reliable method to evaluate fetal renal function. To date there are no real indications for in utero intervention in most detectable cases. The major benefit of prenatal echography is to allow early recognition of major uropathic conditions before postnatal infection worsens the prognosis.

Female↗

Analysis of proteins synthesized by fibroblasts from patients with cystic fibrosis by two-dimensional gel electrophoresis and double label autoradiography.

Mucoviscidosis, the most frequently lethal genetic syndrome of Caucasian population, is a recessive disease with multiple tissue involvement. Although the major pathological changes are observed in lungs and pancreas, abnormalities have also been detected in several other exocrine glands. For many reasons, such as the ready availability of tissue material, the absence of secondary changes and the potential for prenatal diagnosis, cultured skin fibroblasts could be the tissue of choice to search for the primary defect. Several abnormalities have been reported in CF fibroblasts, suggesting that the genetic abnormality is expressed in these cells. To search for potentially mutant protein(s) we have compared the protein composition of normal and CF fibroblasts by two dimensional gel electrophoresis and double-labeling autoradiography using 35S and 75Se methionine as tracer. The results demonstrate the power of the method; however, we have not found one protein spot consistently missing in CF cells. Possible reasons for the absence of a single common identifiable defect are discussed.

Adolescent↗

[Fetal uropathies. Diagnostic and therapeutic problems].

Based on the experience of 63 antenatal diagnosis of fetal uropathies, the authors discuss the diagnostic problems, practical implications of antenatal diagnosis and potential indications of in utero interventions. A correct diagnosis was established in 43 out of the 63 cases (70%). Diagnostic problems were encountered in differentiating between multicystic dysplastic kidneys and uretero-pelvic junction obstruction, dilatation due to reflux or from obstruction and from the lack of visualisation of small hypoplastic kidneys. Transitory urinary tract dilatations were found in 14 cases (22%) and can be responsible for additional false positive findings. Evaluation of the thoracic development and amniotic fluid must be part of the examination since they are related to severe obstructive uropathy. Repeated examinations are necessary in these cases. In evaluating the eventual benefit of an in utero decompression one should keep in mind the diagnostic difficulties but mainly the time of diagnosis of most uropathies when related to the time of its onset during morphogenesis and the absence of any reliable method of evaluation of fetal renal function. This leads the authors to consider that at the present time there are no real indication for in utero intervention. The major benefit of prenatal echography is to allow early recognition of major uropathies before postnatal infection worsens it prognosis.

Diagnosis, Differential↗

Lethal multiple pterygium syndrome.

We report on two fetuses with a lethal form of multiple-pterygium syndrome born to first cousins. The two pregnancies aborted spontaneously in the 2nd trimester, the fetuses, 10-11 weeks of embryonic age, showing multiple pterygia and multiple cartilaginous fusions. One had cleft lip and palate. In both cases the microscopic anatomy of the placenta showed villi with scalloped border and intravillous trophoblastic invaginations.

Abnormalities, Multiple↗

Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis.

Ten thousand children born consecutively in a university hospital were surveyed for the presence of major congenital malformations. About 2% (174) had a major congenital defect. Seventy-eight percent (135 of 174) of these malformations are associated with increased recurrence risk (greater than 1%), and 9% carry a high recurrence risk (greater than or equal to 10%). On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 45% (79 of 174) of the mothers, especially inasmuch as 40% were primiparae younger than 36 years.

Belgium↗

Estimation of gestational age from measurements of fetal long bones.

The general practice of using fetal long bone growth charts to derive gestational age does not yield mathematically valid results. The authors tried to calculate gestational age from the lengths of long bones (femur, humerus, tibia, ulna) from 12 to 40 weeks of gestation. The combined use of the four bones allows a good estimation of gestational age that may be useful should the biparietal diameter measurement be unreliable, unobtainable, or abnormal.

Age Determination by Skeleton↗

[Prenatal diagnosis of malformations of the central nervous system].

Since the very start of using ultrasound to monitor pregnancy the information that the obstetrician has obtained from it has been great. Measuring the fetus (biparietal diameters, rump-crown length etc.) makes it possible to check development of the fetus in the uterus, as well as seeing the various organs and their placing and internal structure. Real time pictures make it possible to visualise the organs precisely from the point of view of their positioning and their internal structures. We report 12 cases of malformations of the central nervous system which were diagnosed in utero and we point out the value of early diagnosis in pregnancy. The 12 cases we found included four of hydrocephaly, one cyst of the choroid plexus, one hydrencephaly , two cases of holoprocencephaly and four cases of anencephaly. Since these malformations may be part of generalised malformations it is important to search for these others by ultrasound as well as by caryotyping and estimation of alpha-fetoprotein levels.

Abnormalities, Multiple↗

Alphafetoprotein (AFP), concanavalin A non-reactive AFP and specific acetylcholinesterase in amniotic fluid from pathological pregnancies. Predictive values for open spina bifida.

Alphafetoprotein (AFP) and concanavalin A non-reactive alphafetoprotein determination and the acetylcholinesterase (AchE) qualitative test have been performed on amniotic fluid samples from 33 normal pregnancies, 44 pregnancies with fetal malformations and 8 normal pregnancies with elevated amniotic fluid alphafetoprotein (3 false positive AFP results, 5 contaminations with fetal blood). The validities of these three tests in detecting abnormal pregnancies are compared. The usefulness of the existing complementary tests in the detection of neural tube defects in a low neural tube defect incidence area is discussed. Risk figures for open spina bifida according to the prior risk situation and the results of maternal serum AFP, amniotic fluid AFP, AchE qualitative test and ultrasound examination have been calculated.

Acetylcholinesterase↗

Control of adenosine-3',5'-monophosphate level in human amnion by prostaglandin E1 and isoproterenol.

The adenosine-3',5'-monophosphate (cAMP) level in human amnion has been measured in vitro during short-term incubations, with or without prostaglandin E1 (PGE1) or isoproterenol. Concentration-response and kinetic curves were obtained. Isoproterenol and PGE1 stimulated cAMP production by amnion in a time-dependent manner. The stimulating effect of isoproterenol and noradrenalin on cAMP level was abolished by the addition of propranolol. Our study, demonstrating cAMP production by amniotic membranes and its stimulation by PGE1 and beta-agonists, suggests that hormones could modulate the amniotic cell metabolism through the cAMP system.

Adenosine Monophosphate↗