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Biomedical subjects

C Ponte

Publications and source records attributed to C Ponte.

At least 73 records · Page 4Linked to original sources
PubMed1983

[Transient leukoblastosis and dysmegakariocytopoiesis with clone 46, XX+21, t(5;7), in a newborn infant with trisomy 21].

A case of transient leukemoid reaction in a child with Down's syndrome with the presence of leukoblasts in the blood at birth is reported. The karyotype established on culture of lymphocytes and fibroblasts was characterized by a chromosomic formula 47, XX,21+. The karyotype established on day 13 of life on cultured bone marrow showed a trisomic 21 abnormal clone with 46 chromosomes resulting from a translocation of the long arms of chromosomes 5 and 7, which gave the chromosomic formula: 46, XX, -5, -7,t (5 qter leads to cen leads to 7 qter), +21. This clone was present in spontaneous blood mitoses. It disappeared on day 75 of life as well as the abnormal leukoblasts. The peculiarity of this case in due to the presence of an aneuploid clone and the association of a leukemoid reaction and dysmegakaryocytopoiesis both of which were transient.

Chromosome Aberrations↗
PubMed1982

[Transfer of neonates in northern france. Factors of mortality (author's transl)].

An extensive study was undertaken in northern France from January 1st to May 31st 1978, concerning the transfer of neonates from maternity hospitals to specialized units. Analysis of 250 children whose birth weight was below 2,000 gm showed that several risk factors could be taken into account to reduce neonatal mortality in this area. Prematurity (22% children weighing less than 1,500 gm in those discharged alive, 54% in the dead), neonatal distress (36% versus 61% of resuscitation) hypothermia (7% versus 23% with temperature below 34 degrees 6 at the time of admission), the need for an other transfer (1% vs. 12%) seem to be features highly related with poor prognosis. This stresses the importance of the prevention of prematurity, of proper management of the babies in the maternity hospital, of the conditions of transport and of the choice of the neonatal unit.

France↗
PubMed1980

[Management of primary hypothyroidism in childhood treated with thyroid extract (author's transl)].

In a group of 19 children with primary hypothyroidism who were treated with thyroid extract, linear relationships were found between blood thyroxine and triiodothyronine levels and the dose of thyroid extract adjusted for surface area. Thus it is likely that the composition of thyroid extract is homogeneous and that the metabolism of thyroid hormones in the patients is similar. Thyroxine (T4) was the most reliable parameter for monitoring treatment as T3 levels were elevated in patients who were otherwise euthyroid. T3 uptake was rather insensitive but the free thyroxine index agreed well with the T4 level. A negative linear semilogarithmic correlation was demonstrated between TSH and T4 but not with T3. In some cases TSH was still raised although the T4 had returned to normal. It is postulated that this could be due to thyrotropic cells hyperplasia. TRH tests did not provide any further information. The recommended dose of thyroid extract which is needed to raise the T4 above the lower limit of normal for age (-2 SD) can be calculated from the regression of T4 and dose of thyroid extract. The mean value was 8.49 +/- 0.86 cg/m2.

Adolescent↗
PubMed1979

[Systematised interstitial emphysema in neonatal respiratory distress. Four cases (author's transl)].

Localisation in one lung only or in one lobe only of lesions of interstitial emphysema is surprising in a diffuse disease such as hyaline membrane disease in premature infants. In the four patients in which this unusual course was seen, cure was obtained in different ways: spontaneously in one case, by excision of a diseased lobe in two cases and by selective temporary intubation of the contralateral main bronchus in the final case. Current methods of treatment of neonatal respiratory distress favour this type of course, without any precise cause being evident. Excision surgery is often avoidable by transient ventilation of the contralateral lung only by selective intubation of the main bronchus.

Emphysema↗
PubMed1979

[V.A.T.E.R. association and its limits].

Comparative investigation of 92 cases of V.A.T.E.R. syndrome (4 personal cases) and 62 cases of caudal regression (Duhamel syndrome) (2 personal cases) are performed. There is much analogy between these two entities. Initial impairment would be an early dysfunction of mesoderm setting up located on esophagus in V.A.T.E.R. syndrome and on kidneys in Duhamel syndrome. Etiopathogenic factors remain unknown. Genetic counseling is good. Detection of only one mesodermal malformation leads to inquire other unnoticed anomalies (kidneys, heart, spine, alimentary duct).

Abnormalities, Multiple↗
PubMed1977

Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.

The clinical course and biochemical findings in a case of carbamyl-phosphate-synthetase deficiency are described. The patient, a boy, presented 48 h after birth with rapidly developing hypotonia and hypothermia. Pulmonary haemorrhage, melaena and haematemesis ensued and despite ventilatory assistance and peritoneal dialysis the patient died on the fifth day. A virtual absence of carbamyl phosphate synthetase I (N-acetylglutamate dependent) was proved by analysis of tissue samples removed post mortem. Other urea cycle enzymes were normal.

Amino Acids↗