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Biomedical subjects

P Sarda

Publications and source records attributed to P Sarda.

At least 73 records · Page 4Linked to original sources
PubMed1991

Epidemiology of diaphragmatic hernia in Languedoc-Roussillon.

The frequency of diaphragmatic hernia (DH) varies, according to the studies, between 1/2000 and 1/7000. In the Languedoc-Roussillon (South of France), due to the presence of a Regional Foeto-Pathology Department and Medico Surgical Paediatric Department, it was possible to itemize all of the DH over a 24 month period (June 1989----May 1991). 20 children presenting DH (10 foetuses and 10 liveborns) were examined for a total population of 49.350 foetuses and liveborns (frequency of DH: 0.40/1000). 10 DH were associated with extra-pulmonary malformations (50%). 4 chromosome abnormalities were found (20%). Prenatal chromosome analysis in cases of ultrasound malformation detection has increased the number of karyotype abnormalities diagnosed.

Chromosome Aberrations↗
PubMed1990

Pure fetal blood samples obtained by cordocentesis: technical aspects of 322 cases.

Three hundred and twenty-two percutaneous umbilical blood samplings were performed over 4 years in our prenatal diagnostic centre. A 3.5 MHz sector ultrasound transducer was used to guide a 22.5-gauge needle under local anaesthesia. Sampling was performed for rapid fetal karyotyping (within 72 h) in 120 cases, for diagnosis of fetal toxoplasmosis in 133 cases, for determination of the severity of Rh immunization in 15 cases, and for diagnosis of congenital rubella in 4 cases. Pure fetal blood was obtained in 98.7 per cent of the cases after two attempts. The approach to the cord was either transamniotic or transplacental. Puncturing was preferentially done at the placental insertion of the cord (72.2 per cent of the cases) and the mean blood sample volume was 3.5 ml. The rate of fetal death in utero was 1.9 per cent, including two cases of amnionitis, one trisomy 18, and one severe bradycardia. The failures were due to sampling at an early stage of pregnancy (before gestation week 18), to maternal obesity, oligohydramnios, and the inexperience of the operator.

Anemia, Sickle Cell↗
PubMed1990

[Hazards of ultrasonography of the hip].

We studied the value of ultrasound examination combined with conventional clinical evaluation in screening for congenital defects of the hip in a study including more than 3,000 neonates. We used two kinds of ultrasound methods, i.e. the morphological method, that is highly standardized and seeks to identify several well-defined anatomic landmarks (Graf's technique), and the dynamic method, that uses transverse flexion, frontal flexion or medial sections to determine the degree of stability of the hip. We describe these sections in detail so that pediatricians may correctly appreciate the images obtained. The respective indications of each section depend on the findings made as the investigation advances. Rigorous adherence to precise rules is now possible and is the only means for ensuring that these techniques will be used rationally in a way that can be expected to significantly reduce the still considerable number of dislocations and dysplasias of the hip discovered beyond three months of age.

Evaluation Studies as Topic↗
PubMed1989

[Dissociation of maternal and fetal platelet levels in maternal idiopathic thrombocytopenic purpura. Diagnosis of fetal thrombocytopenia by cord ultrasound-guided puncture].

Severe foetal thrombocytopenia (24,000 platelets per cubic mm) was diagnosed in a 37-week pregnant woman. The primigravida, primipara mother had been affected with idiopathic thrombocytopenic purpura at the age of 6 years, in remission since the age of 8 years (after splenectomy). The prenatal diagnosis was made by foetal blood sampling performed when the mother's platelet count was normal. The expected haemorrhagic complications of vaginal delivery were avoided by a caesarean section.

Adult↗
PubMed1989

[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy].

The polymerase chain reaction is a new powerful method for in vitro cloning of specific regions of DNA. The use of the heat-stable DNA polymerase made the reaction amenable to automation. This method greatly facilitates the detection of mutations which are responsible for Duchenne muscular dystrophy, via DNA amplification of multiple deletions prone exons from the DMD gene.

Chromosome Deletion↗
PubMed1989

[Conradi-H:unermann chondrodysplasia punctata and fetal alcoholism].

Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome, alcohol is also the cause of numerous fetal malformations. A case of Conradi-Hünermann type chondrodysplasia punctata is reported. Maternal alcohol ingestion was reported during gestation.

Abnormalities, Multiple↗
PubMed1989

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

We report a case of mental retardation associated with multiple congenital anomalies suggesting an F.G. syndrome. We discuss problems concerning genetic counselling and the management of future pregnancies. Unfortunately, no concrete strategy, concerning prenatal diagnosis, can be proposed.

Abnormalities, Multiple↗
PubMed1989

[The CHARGE association].

The CHARGE association includes a group of several malformations, and always a coloboma and/or choanal atresia. We present 8 cases of this syndrome, 5 complete and 3 incomplete forms. Prognosis at term seems severe, considering the visceral malformations (namely cardiac) and the cerebral handicap often associated. In most cases the CHARGE association is a sporadic event; however, one cannot exclude the possibility that certain forms follow a Mendelian pattern of inheritance. The mechanisms leading to this association have not yet been elucidated: it is probably due to migration abnormalities of the neural crests as in the VATER association of Di George syndrome.

Abnormalities, Multiple↗
PubMed1989

[Fetal blood sampling for karyotype using echoguided puncture of the cord. Study of 103 pregnancies].

Subcutaneous ultrasound guided puncture of the umbilical cord was carried out in order to obtain samples of blood in 103 fetuses. This was done to get the result of the karyotype quickly, i.e. in 72 hours. The indications were for diagnosis, particularly of malformations (63 cases) or intra-uterine growth retardation (24 cases). A small proportion of the indications were those for failures to carry out amniocentesis early or for checking on mosaics that were obtained after the culture of amniotic fluid cells. In 88% of the cases it was possible to obtain a karyotype and the results were checked with the sex of the fetus and the karyotype that had been obtained from amniocentesis. There were 11 abnormalities diagnosed. The chief indication of chromosome abnormality is fetal malformation. Because the result are obtained so quickly cordocentesis should replace late amniocentesis, at present when looking for fetal abnormalities.

Adolescent↗
PubMed1988

[Hereditary congenital lymphedema with pseudosexual ambiguity].

A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.

Disorders of Sex Development↗
PubMed1987

Storage of medium-chain triglycerides in adipose tissue of orally fed infants.

The effect of the fatty acid content of the diet on that of adipose tissue was studied in 5 newborn infants studied prior to feeding and 30 infants fed ad libitum from birth with either human milk or a commercial formula as the sole nutrient. Significant positive linear correlations of dietary intake on adipose tissue content of fatty acids were found for both long- and medium-chain fatty acids (MCFA). Infants stored up to 12% of MCFAs in their subcutaneous fat. The technique of direct transesterification improved the recovery of the volatile MCFAs and could explain the finding that medium-chain triglyceride storage in adipose tissue is more extensive than in previous reports. This study documents that MCFAs are not used solely as a source of energy: they can be reesterified or serve for chain elongation, before being deposited in fat stores.

Adipose Tissue↗