Acta paediatrica Hungarica最新文献

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling unit of our institute in the last 12 years are reviewed. The only familial recurrent case which has been prenatally diagnosed is described in detail. A urinary bladder anomaly like that of the subsequent third child has not been previously reported. The authors analyze the possible inheritance patterns. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

In this study, we have examined the impact of some social and maternal factors on birth weight in the two regions Hungary, in the capital and in one county. Although many of the variables were analyzed in both regions, significant relationships were found between LBW and smoking habits, birth order and mother's age. The incidence of low birth weight was higher in Budapest than in Vas. Smoking habits were found as a common factor of higher significance in both regions. Birth order and mother's age were found as other factors of higher significance in the Budapest sample as compared to Vas.

Spain is one of the countries with a very high incidence of hydatidosis in the childhood. It represents 16.8% of all cases intervened for thoracic surgery for hydatidosis cysts in our department during the last ten years with a total of 21 children (inferior to 14 years) operated due to hydatidosis. Cough and pain were the symptoms more frequently encountered. The ratio unruptured/ruptured cysts was 3/1, higher than in the adults, with an average of 2.62 cysts per patient. Specific immunoglobulin E and histamine liberation test were the most useful tests in the laboratory. The usual surgical technique was a cystopericystectomy with total extirpation of the parasite of its rests. No recurrence was found in the follow-up of our patients.

Head injuries of children between 4-16 years in the first hour after the trauma have been studied. The neurological examination was completed by CT-scan. Glasgow Coma Score (GCS) as well as Glasgow Outcome Scale (GOS) were also applied and proved to be very helpful. Our findings show a significantly frequent occurrence of epidural haematomas. Their treatment in patients with GCS above 8 was in 90% successful.

Ultrastructural findings of biopsy materials of four gipsy first cousin infants suffering from late infantile type of ceroid lipofuscinosis (Jansky-Bielschowsky) were investigated. The diagnostic significance of the conjunctival biopsy is emphasized. The pericytes and the vascular smooth muscle cells of the arterioles proved to be the main inclusion storing cells.

A population-based aetiological study was carried out on 6 to 14 years-old severely visually handicapped children in Hungary. Of the 547 recorded cases 491 (90%) were included in the analysis. Eleven aetiological groups were separated: isolated cataracts (16.7%), congenital abnormalities of the eye (15.1%), high myopia +/- retinal detachment and other cases (13.4%), retinopathy of premature (11.0%), choroidoretinal degenerations (10.0%), syndromes (9.6%), nystagmus and/or hypermetropia (9.0%), isolated and complicated optic atrophy (6.7%), postnatal causes (4.9%), retinoblastoma (1.8%), prenatal causes (1.8%). A significantly higher rate of previous induced abortions was found in the group of retinopathy of premature. Perinatal damage syndrome and Mendelian monogenic defects are the two most common aetiological categories in the origin of severe visual handicaps in Hungary.

1320 students of two high schools were examined in Holon. Their physical and behavioral problems are summarized. These data serve to build the model of the medical profile of the adolescent in Israel, as a background to medical screening in school, which should be done at least every two years.

This study has been performed to assess the effect of methyldopa (MD) therapy in pregnancy hypertension on the neonatal adaptation. Infants born to mothers on MD for several weeks prior to delivery and presenting with excessive tremor and irritability were evaluated according to the dose of maternal MD. Pregnancy hypertension and high dose MD was associated with impaired placental perfusion, compromised function of fetoplacental unit and more frequent surgical delivery. Infants of mothers on high (1.25-2.0 g/day) or low (less than 1 g/day) MD had gestational age, head circumference, acid-base balance, Apgar score and blood pressure similar to those born to healthy control mothers. The birth weight of infants of the high MD group, however, were significantly lower than in the low-dose or control groups. MD therapy resulted in a dose-dependent increase in plasma levels of prolactin, thyrotropin and triiodthyronine indicating decreased dopaminergic inhibition of pituitary hormone release. Plasma thyroxine concentration, however, decreased significantly. Cerebrospinal fluid noradrenaline was found to be markedly depressed after maternal MD showing disturbed central nervous system monoamine metabolism. It is suggested that MD administration to mothers presenting with pregnancy hypertension interferes with cerebral monoamine metabolism of the neonate and induces alterations in some endocrine functions under dopaminergic control. The possible role of chronic fetal distress frequently associated with pregnancy hypertension should also be considered.

61 infants with critical valvular pulmonary stenosis (21 cases) or pulmonary atresia with intact ventricular septum (40 cases) were operated on between 1975-1989 in the Semmelweis University Medical School. Right ventricular volume, area, outflow tract dimension and tricuspid anulus diameter was measured by angiocardiography and echocardiography to evaluate right ventricular size, and to predict the operative outcome using these data. Our results suggested, that if the normalized right ventricular volume was less than 3 ml/m2, the normalized right ventricular area was less than 2.5 cm2/m2, and the normalized right ventricular area was less than 2.5 cm2/m2 and the normalized tricuspid anulus diameter was less than 1.2 cm2/m2/3 only a systemopulmonary shunt procedure is needed. In all other cases pulmonary valvotomy is necessary to decompress the right ventric and to help increase the right ventricular size. Where a different part of the right ventricle is hypoplastic a systemopulmonary shunt procedure is needed too. In the follow up period the right ventricular dimension and tricuspid valve diameter was measured by echocardiography. This noninvasive assessment can predict the preoperative diagnosis, postoperative outcome and demonstrates an adequate growth of the right ventricle after pulmonary valvotomy.

The cranio-carpo-tarsal or "whistling face" syndrome was first described by Freeman and Sheldon in 1938. More than 60 cases with great variability of expression are known till now and autosomal dominant as well as recessive inheritance and sporadic cases suggest a genetic heterogeneity. We review 60 well-documented cases of the literature and present a patient with a severe form, who died of bronchopneumonia at the age of 9 months. The facial stigmata of his mother and the ulnar deviations of his maternal grandfather support the autosomal inheritance of the syndrome.