[Development in pediatrics].
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Biomedical subjects
Publications and source records attributed to B Pelet.
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In three children with Down syndrome and acquired hypothyroidism echocardiography was performed before and after the start of L-thyroxine treatment. Initial studies revealed pericardial effusions which resolved during treatment suggesting that they were caused by hypothyroidism. The incidence of hypothyroidism in Down syndrome is high, but the diagnosis is often missed for lack of specific clinical criteria. The finding of pericardial effusion by echocardiography may be essential in discovering thyroid dysfunction. The cases illustrate that regular thyroid function tests are important in Down syndrome.
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Haemoglobin (Hb) was measured in 348 full-term one-year-old infants in 7 private paediatric offices. In 36 (10.3%) subjects, the Hb value was less than 110 g/l, and in 7 (2.0%) less than 100 g/l. In 11 of 212 (5.2%) subjects, MCV was less than 70 fl. Twenty-six infants with an Hb below 115 g/l showed an increase of Hb of +10 g/l or more after a therapeutic trial with oral iron. No relationship was found between Hb levels and early introduction of whole cow's milk into the diet. It is concluded that screening for iron deficiency is justified in healthy Swiss infants: Hb and MCV measurements may be the initial step.
A pituitary tumor was diagnosed in a prepubertal 13-yr-old girl, who had elevated plasma LH (58 mIU/ml) and PRL (93 ng/ml) levels; decreased GH, ACTH, and FSH secretion; and diabetes insipidus. After surgery, plasma LH and PRL declined, but not to normal levels. Conventional external radiotherapy to the pituitary was immediately followed by a decrease in LH to prepubertal values (0.7 mIU/ml), while PRL levels became normal only after a long course of bromocriptine therapy. The pituitary tumor was composed of two distinct cell types: small polygonal cells, which were PRL positive by immunohistochemistry, and clusters of pleomorphic large frequently mitotic polynucleated cells, which were LH positive, some of them also being positive for the alpha-subunit or beta LH but not for beta FSH. Four years after surgery and radiotherapy, the patient deteriorated neurologically. Computed tomographic scan showed widespread frontal and periventricular tumor, which had the histological features of a poorly differentiated carcinoma. No PRL, LH, or alpha- or beta-subunits were detectable on immunocytochemistry. While the PRL-positive cells of the pituitary tumor displayed the histological and clinical features of PRL adenomas, the morphological characteristics of LH cells and the sharp decline of plasma LH levels after radiotherapy were suggestive of malignant transformation. In this context, the later brain tumor could have been the result of subependymal spread of the pituitary tumor after it lost its hormone-secreting capacity.
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The diagnostic value of a purified and standardized extract of the house dust mite Dermatophagoides pteronyssinus (Pharmalgen, Pharmacia) has been tested by nasal or bronchial allergic provocation tests (PT). 50 patients (31 with rhinitis and 19 with asthma) who had a skin test and RAST positive for D. ptero. were tested: all had a positive PT. 47% of the patients with asthma had a late phase of bronchial obstruction. PT were negative in 18 subjects not allergic to D. ptero. It is concluded that, although specific, PT are not necessary if the diagnosis has already been established by the association of a positive skin test and RAST.
Neutropenia with abnormal mobility of neutrophils is described in 3 related patients. All presented generalized phlebectasias; 2 had also persistent fetal circulation. One patient died at the age of 2 days from severe pulmonary hypoplasia and bilateral pneumothorax. It is speculated that the defective neutrophil mobility and the vascular abnormalities could be due to a common, genetically inherited, basic defect.
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C3, factor B, and alpha-1-antitrypsin were determined in newborn infants with septicaemia and sclerema, associated with suspected infections, ABO or Rh incompatibility, and hyperbilirubinaemia of unknown origin, during and after treatment with exchange transfusion. Activation products from C3 and factor B, the clearance of the transfused C3, and its synthesis by the recipient were determined also. Infected newborn infants had low levels of C3 and factor B, but a normal amount of alpha-1-antitrypsin. Exchange transfusion lowered the level of alpha-1-antitrypsin and briefly corrected the low level of C3 and factor B. Activation products were formed only exceptionally. As synthesis of C3 is very active, a defective activation of complement pathway linked to an abnormal distribution in extravascular pool is postulated.
During 23 exchange transfusions, the granulocytes from 27 donors and 16 newborn infants were tested for opsonic activity and granulocyte function by the nitrobluetetrazolium test. Granulocyte function in a newborn baby receiving an exchange transfusion can be altered positively or negatively, depending on the quality of the donor's blood. If exchange transfusion is used in the management of neonatal sepsis, special attention should be given to the immunological properties of the donor blood.
A boy of 3 2/12 years of age with Richner-Hanhart syndrome (plantar and palmar keratosis and chronic keratitis) was found to have hypertyrosinemia and to excrete the hydroxyacids derived from tyrosine. A diet poor in phenylalanine and tyrosine cured the skin and corneal lesions. Clinical and biochemical observations are reported.
Three consecutive patients considered to have end-stage acquired aplastic anaemia were given 100-160 mg/kg antilymphocyte globulin (ALG) i.v. followed by an infusion of 2-3.8 x 10(8) nucleated marrow cells/kg i.v. from HL-A one haplotype-identical, MLC-positive family donors. All patients showed autologous marrow reconstitutions lasting now 2-3 1/2 years. No clear-cut evidence of marrow engraftment could be established and no graft-versus-host disease was seen. It is assumed that these patients had some normal pluripotent haemopoetic stem cells which proved to be able of endoreduplication and of going into cycle after ALG conditioning and allogeneic marrow transfusion.