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Biomedical subjects

E Vamos

Publications and source records attributed to E Vamos.

At least 73 records · Page 4Linked to original sources
PubMed1990

Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings.

Three sibs, a boy and two girls, born to Moroccan consanguineous parents, were affected with a syndrome characterized by brittle hair, mental retardation, short stature, ataxia, and gonadal dysfunction. The hair in these three patients displayed the morphological and biochemical hallmarks of trichothiodystrophy (TTD). Gonadal function tests showed abnormal gonadotropic responses to LHRH, consistent with delayed puberty in the male and ovarian failure in both females. Comparison with previously reported cases of TTD associated with mental retardation suggests genetic heterogeneity, although specific biochemical markers are needed in order to answer this question.

Abnormalities, Multiple↗
PubMed1990

Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose infusions. Total serum carnitine from cord blood was 1.65 nmoles/ml and was undetectable on day 20. Oral DL-carnitine supplements resulted in normoglycaemia, dramatic improvement in cardiac function and restoration of serum carnitine levels to normal values. The infant was thereafter maintained on carnitine therapy. Follow-up over 1 year showed moderate growth retardation and normal developmental milestones. In order to account for such a severe neonatal presentation of carnitine deficiency, a combination of defective pre- and postnatal carnitine supply with an inborn error of carnitine handling is considered. The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.

Cardiomyopathies↗
PubMed1990

[Chorionic villi sampling: experience of the initial 500 samples].

We report our experience in first trimester antenatal diagnosis since 1984. Transcervical chorionic villus sampling (CVS) was performed in 498 pregnancies. The rate of abnormal pregnancies was 6%, the rate of chromosomal abnormalities (trisomy) in the indication group "maternal age" was 2%. The fetal loss rate (until 28 weeks) was 3.4% (17 cases), the procedure related loss plus the background loss was 2.4% (12 cases). For 92.8% of the patients a diagnosis was available after 1 CVS procedure. Ultimately an antenatal diagnosis was given to 99% of the women through a second CVS procedure or an amniocentesis or a cordocentesis. No maternal complication was observed.

Chorionic Villi Sampling↗
PubMed1990

[Cordocentesis: experience in 391 initial samples].

The first diagnostic cordocentesis was performed in our unit in october 1985. Our 4-year experience is reported: 391 cordocentesis were performed in 360 patients during gestational weeks 14 to 42. The first attempt was successful in 90% of the procedures, 4 samplings failed, there were 4 fetal deaths within one week after diagnostic cordocentesis, one of them appears to be directly linked to the punction. A transient fetal bradycardia was observed in 9.9% of the cases, bleeding occurred in 19% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemopathy, search for paternity, assessment of fetal acid-base status, biochemical dosage. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

Chromosome Aberrations↗
PubMed1990

[Prenatal diagnosis using amniocentesis and chorionic villi sampling: comparative study of chromosomal findings].

The authors report the results of chromosomal analyses performed on 6235 amniocenteses and 559 choriocenteses. Whereas the frequencies of chromosomal anomalies observed respectively on amniocenteses and choriocenteses did not differ significantly, the comparison of the types of aberrations found revealed, in chorion villi, a relatively high proportion of lethal anomalies, never encountered in amniocyte cultures. Furthermore, chromosomal mosaicism was observed 10 times more frequently on chorion villi than on amniotic cells. These results are globally comparable to those reported in other surveys. In view of literature reports of discordances between fetal chorionic karyotypes, never found in amniocenteses, rapid karyotyping from chorion villi is not as reliable as from amniotic cells. Taking into account the risk of cytogenetic discordance specific to choriocentesis, it is recommended that this method be strictly limited to pregnancies with high genetic risk.

Amniocentesis↗
PubMed1990

[The value of prenatal chromosomal diagnosis in cases of fetal abnormalities: results obtained in 468 pathological pregnancies].

The authors report the results of 468 foetal karyotypes performed on amniotic fluid or foetal blood samples after ultrasound discovery of foetal anomalies. A total of 46 chromosomal aberrations (10%) were detected. The rates of anomalies vary considerably according to the alarm sign; very high (greater than 30%) in cases of multiple malformations, foetal hydrops or foetal death, low (less than or equal to 2%) in cases of poly- or oligohydramnios and foetal growth retardation without detectable malformation. In addition to these chromosomal diagnoses, further investigations enabled in 9 cases the diagnosis of genetic autosomal recessive disorders. Our results which are comparable with those reported in the literature, demonstrate the importance of prenatal diagnosis in cases of pathological pregnancies, with regard to obstetrical and perinatal management as well as to genetic counseling.

Chromosome Aberrations↗
PubMed1990

[A comparative study of the karyotypes of fetuses of spontaneous early abortions obtained by direct method and by long-term culture].

The direct method of chromosomal preparations on chorionic villi biopsies has been applied to the cytogenetic study of 34 early spontaneous abortion products. These results were compared with those obtained through long term cultures performed simultaneously from the same samples. The success rate obtained through the direct method (86.2%) is superior to that of the long term culture (76.4%). However, the combined use of both techniques further improves the success rate (94.1%) and the reliability of the results. Among the 32 informative cases, 15 chromosomal aberrations (46.8%) have been detected. These data demonstrate the value of the direct method of karyotyping chorionic villi from spontaneous abortion products. However, considering the specific advantages of either method respectively, the authors recommend that both be used simultaneously for optimal diagnostic efficiency.

Abortion, Spontaneous↗
PubMed1989

[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?].

The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.

Abnormalities, Multiple↗
PubMed1988

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.

Clinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother. However, the 64Cu uptake of fibroblast cells from tissue culture was not increased. Ultrastructural pathologic findings from skin biopsies have been studied and compared at birth and at age 2 years. The lack of junction between the 2 elastic fiber components was similar. Further evidence for clinical heterogeneity of this disease is stressed.

Cutis Laxa↗
PubMed1988

Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.

A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.

Chromosomes, Human, Pair 12↗
PubMed1988

Familial trisomy 11p resulting from a balanced paternal translocation: 3 new cases including first trimester diagnosis.

Three related new cases with almost complete trisomy 11p due to paternal balanced translocation 46, XY, t(7; 11) (q36.1; p11.1) are reported. The proband (Case 1) was a malformed stillborn with exomphalos, case 2 was diagnosed in the first trimester by direct chromosome preparations from chorionic villi, and confirmed on fetal products after termination of pregnancy. Case 3, a cousin to cases 1 and 2, was a 29-weeks-old fetus with omphalocele discovered at ultrasound. Literature reports of trisomy 11p are reviewed with regard to those new cases, and the possible relationship of this chromosome imbalance with the Beckwith-Wiedemann Syndrome is discussed.

Chromosome Banding↗
PubMed1988

[Asthma and allergens in Benin (Western Africa). Preliminary results with the in vitro RAST technic].

The present work studied the importance of allergy in a population of 41 asthmatics in Benin, using specific IgE measurement by RAST. Specific serum IgE to different allergens has been found in 80% of all cases. Reactions were frequently positive when grass pollens were used and more than half of the patients were sensitive to mites. Standard commercial reagents were used for the tests. Africa-specific allergens were not used in the study, but it is probable that in Western Africa the same allergens as in Europe man be found, or at least those with common allergenic determinants.

Allergens↗
PubMed1987

Value of glial fibrillary acidic protein determination in amniotic fluid for prenatal diagnosis of neural tube defects.

Glial fibrillary acidic protein (GFAp), an intracellular protein specific to astrocytes of the central nervous system, was determined by 2-site immunoradiometric assay in amniotic fluid from 78 pregnancies with a normal, and 100 with an abnormal outcome. GFAp was not detectable in any of the normal pregnancies, but there were measurable, and so raised, levels in 23 out of 25 cases of anencephaly and 4 out of 7 cases of spina bifida, which therefore allowed prenatal diagnosis. GFAp was also increased in 4 of 6 cases of fetal intrauterine death, but not in other congenital malformations associated with elevated alphafetoprotein levels or abnormal acetylcholinesterase banding pattern, such as exomphalos, other gastrointestinal malformations or renal abnormalities. GFAp is therefore specific for diagnosing open neural tube defects. The determination of GFAp in amniotic fluid was slightly less efficient overall than AFP for the prenatal diagnosis of neural tube defects, but can be a useful ancillary test and has the advantage of specificity.

Acetylcholinesterase↗
PubMed1987

[376 amniocenteses performed under continuous ultrasonic control].

The authors report 376 amniocenteses carried out early and late in pregnancy under real time ultrasound at the University Clinic of St Pierre. The ability to watch the needle during the whole procedure of puncture makes it possible, as compared with amniocentesis that has been carried out without ultrasound or without real time ultrasound, to lessen significantly: perinatal mortality (0.26%), several attempts (0.9%) and the risk of accidental haemorrhage (1.6%). Particularly diminished are risks when it would be inevitable to have to put the needle through the placenta (31% of cases). The number of spontaneous abortions linked to the technique has virtually disappeared. When the operator has become very experienced in carrying out amniocentesis under real time ultrasound he becomes much more able to carry out other antenatal diagnostic procedures. Even when for certain indications amniocentesis is replaced by chorion villus biopsy in the first trimester or cord puncture in the third trimester, real-time ultrasound makes it less risky to carry out the procedures and the technique becomes a very useful one in the armamentarium of antenatal diagnostic methods.

Adult↗