Cytochrome oxidase deficiency affecting the structure of the myofibre and the shape of mitochondrial cristae membrane.

Cytochrome oxidase deficiency was detected in the skeletal muscle of a newborn floppy child. There was a significant decrease in the quantity of subunit 5 and 6 of cytochrome oxidase as showed in Western blot with cytochrome oxidase antibody. By contrast, the NADH: cytochrome c oxidoreductase activity was normal. Electron microscopic studies revealed serious distortion in the myofibres with broken Z-bands and disorganized fibers. The relative molecular mass of actin in the myopathic muscle was smaller than in control. The diffuse actin band in Western blot suggested a proteolytic degradation of F-actin in the myopathic muscle. There was also a serious distortion in the mitochondrial structure. Cytochrome oxidase has a direct role in the formation of cristae and mutation in its components may be directly responsible for the abnormal structure.

[Respiratory syncytial virus infection in high-risk infants]. / Respiratory syncytial vírusfertózés gyakorisága veszélyeztetett csecsemókben.

The authors describes the frequency of respiratory syncytial virus (RSV) infections in high risk infants in ten hospitals, between 01.02.1999.-15.03.1999. RSV antigen test were performed from the nasopharyngeal or throat swabs of 58 infants with respiratory tract infections. Thirteen patients were positive. Among them 11 were prematures. Six infants were still receiving treatment in Neonatal Intensive Care Unit, while seven infants were readmitted to a Pediatric Intensive Care Unit. Distribution of risk factors (prematurity, bronchopulmonary dysplasia, ventilation in newborn period, smoking in the family, unseparated brothers or sisters) in patients were comparable with the data of literature. Eight infants needed head box O2-therapy. No deaths were detected. The results of this preliminary study in Hungary might emphasize the importance of RSV infection, as a frequent cause of rehospitalization and the possibility of prevention (immunoglobulin, palivizumab).

[Survival rate and follow up studies of very low birth weight (less than 1000 g) premature infants]. / Igen kis súlyú (1000 g-nál kisebb) koraszülöttek túlélése és utánvizsgálata.

The Neonatal Intensive Care Unit (NICU) at the Department of Pediatrics, University Medical School Pécs had been established 11 years ago. 219 premature infants who weighed 1000 g or less were admitted to the NICU between Jan. 1978 and Dec. 1988. The authors analysed the hospital records of there patients and found a marked increase in survival rates during the last five year period. The data presented strongly suggest that improvement of obstetric care, development of respiratory and fluid therapy, the increasing experience of hospital staff caring for the infants are the main factors contributing to improved results. At the same time the adverse effects of transportation from the referring institution are well demonstrated. The main causes of death remained the same over the 11 years studied. The number and severity of acute and late complications decreased markedly. The intensive care of very low birth weight infants is becoming increasingly expensive. However the growing expenditures are justified by increasing life expectancy of patients and the expected better quality of life among survivors.

[Successful treatment of a right atrial thrombus secondary to central venous catheterization]. / Centrális vénás kanül szövödményeként kialakult jobb pitvari thrombus sikeres kezelése.

The authors report on the thrombolytic therapy in an infant born after 36 weeks of gestation weighing 2800 grams. She was repeatedly operated on for intestinal perforation and a right atrial thrombus developed as a complication of the central venous catheterisation. Complete dissolution of the thrombus was observed after 5 days of local urokinase infusion (initial dose: 3000 IU/kg/hr, gradually elevated up to 4500 IU/kg/hr) through an Epicutaneocava catheter positioned in the right atrium. Subsequently, prophylactic intravenous heparin infusion (100 IU/kg/hr), then subcutaneous low-molecular-weight heparin (2 x 100 AXa IU/kg/day) was given. No side effects of the treatment was observed. On follow-up examinations at the age of 5 months the infant proved to be healthy.

[Hydranencephaly. (Severe cerebral malformations in three newborn infants)]. / Hydranencephalia (a súlyos agyi elváltozásról három újszülött kapcsán).

Three neonatal cases of hydranencephaly are reported. Clinical and radiological characteristics of this disease are also described. Factors which can have any role in the development of hydranencephaly are reviewed. The importance of intrauterine ultrasonography and the quick, early diagnosis is emphasized. Therapeutic approaches are also discussed.

[Transport of newborn infants who need intensive care]. / Intenzív ellátást igényló újszülöttek szállítása.

A 4-year-long experience is reported on mobile neonatal emergency transport service for pathological newborn babies from referral hospitals to the NICU level III. The area covered by the NICU consists of three counties with a total population of 1 million. Distance of the hospitals from the NICU ranges 0.5-115 km, transport time varies from 0.5-5.0 hours. In the transport staff are dedicated neonatal team from the NICU III, the driver and the emergency medical technician are the employee of the National Ambulance Service. During the study period 385 patients were transported. Clinical condition and characteristic laboratory parameters of the babies at departure and arrival are analysed and compared to evaluate the efficacy and quality of the system. Furthermore, some questions regarding organisation, transit time and response time and legal aspects are discussed.

[Cytochrome C oxidase deficiency]. / Cytochrom c oxidáz hiány.

Cytochrome c oxydase deficiency, i.e. a mitochondrial myopathy was diagnosed in a patient suffering from generalized muscle hypotonia. The fatal case presented underlines the importance that within the clinical pattern of myopathies the distinct entities should be differentiated.

[Extremely low birth weight (less than 1000 gram) and early postnatal weight gain in preterm infants]. / Extrémen alacsony születési súlyú (< 1000 g) koraszülöttek korai postnatalis súlygyarapodása.

Improving survival of extremely low birthweight (< 1000 g) preterm infants opens the practical issues of their postnatal nutrition and growth. The authors studied nutrition and weight gain in 16 extremely low birthweight preterm infants (birthweight: 890 +/- 22 g, gestational age: 28.0 +/- 0.2 week, mean +/- SEM) during the first 12 weeks of life. Milk of the mother, or fortified pooled human milk or preterm infant formula was fed. The preterm infants approximated their birthweight by the end of the 3rd week of life (21st day: 866 +/- 29 g). Body weight expressed as per cent of birthweight was 109 +/- 2% at the end of the 4th, 176 +/- 7% at the end of the 8th and 275 +/- 6% at the end of the 12th week of life. Weight gain during the 1st to 8th postnatal weeks was compared to the mean in utero weight gain of foetuses with identical gestational age, gender and weight percentile position. Cumulative weight gain of preterm infants during the first 8 weeks of life was significantly lower than that of the theoretical controls (76 +/- 7% versus 136 +/- 2%, per cent of the initial value, preterm versus control, p < 0.0001). Additional weight gain of preterm infants was lower than that of the controls on the 1st to 5th weeks of life (g/kg/day, 1st week: -14.4 +/- 1.6 versus 16.7 +/- 0.5, p < 0.0001; 5th week: 13.3 +/- 1.2 versus 16.4 +/- 0.3, p < 0.05), there were no differences between the two groups on the 6th and 7th weeks, whereas preterm infants gained significantly more weight on the 8th week of life than the theoretical control value (18.2 +/- 0.9 versus 14.0 +/- 0.2, p < 0.001). These data indicate that the first weeks of life represent an especially important period for the improvement of the nutrition of extremely low birthweight preterm infants.

[Calcium, phosphorus, magnesium status and postnatal growth during 0-8 weeks in low birth weight premature infants]. / Kis súlyú (less than 1500 g) koraszülöttek kalcium, foszfor, magnézium statusa és 0-8 hetes postnatalis növekedése.

Mineral intake and biochemical parameters of calcium, phosphorus and magnesium metabolism were studied during the first eight postnatal weeks in 12 very low birthweight preterm infants. However, the intake of calcium and phosphorus was less than that generally advised in the relevant literature, only marginally lowered serum mineral concentration and no rise in alkaline phosphatase activity were found. Urinary calcium/creatinine and phosphorus/creatinine ratio did not reflect mineral deficiency either. At the same time, a significant inverse correlation was found between postnatal growth rate and calcium excretion in the study babies, whose postnatal growth rate was much less than the control foetal growth rate. The authors briefly discuss the main aspects of neonatal mineral supply and homeostasis.

[Long-chain polyunsaturated fatty acids in breast-fed and formula fed healthy infants]. / Szoptatott és tápszerrel táplált egészséges csecsemök ellátottsága hosszú szénláncú, többszörösen telítetlen zsírsavakkal.

While human milk contains considerable amounts of long-chain polyunsaturated fatty acids (LCP), most formulae contain only the precursors of LCP synthesis (linoleic and alpha-linolenic acids) but are devoid of preformed dietary LCP such as are arachidonic and docosahexaenoic acids. LCP contents in plasma phospholipids (PL), triglycerides (TG) and sterol esters (STE) were measured by high resolution capillary gas-liquid chromatography in healthy, term infants fed human milk of formula. Percentage contributions of the precursor fatty acids were similar or higher in plasma lipids in formula fed than in breast-fed infants, meanwhile values of the intermediary metabolites of LCP synthesis did not differ between the two groups. Percentage contributions of arachidonic acid were higher in breast-fed than in formula fed infants at the ages of 2 weeks (PL: 9.39 +/- 1.00 vs. 6.91 +/- 0.38, TG: 0.61 +/- 0.03 vs. 0.41 +/- 0.05, %weight/weight, mean +/- SEM), 1 month (PL: 9.06 +/- 1.04 vs. 6.16 +/- 0.35, TG: 0.62 +/- 0.10 vs. 0.32 +/- 0.04, STE: 4.50 +/- 0.45 vs. 2.84 +/- 0.39) and 2 months (PL: 8.41 +/- 1.19 vs. 5.74 +/- 0.37). Similarly, docosahexaenoic acid values were at the ages of 1 month (PL: 1.94 +/- 0.21 vs. 1.19 +/- 0.21, TG: 0.12 +/- 0.03 vs. 0.04 +/- 0.02) and 2 months (PL: 2.02 +/- 0.36 vs. 0.99 +/- 0.07) significantly higher in breast-fed infants than in those receiving formula.(ABSTRACT TRUNCATED AT 250 WORDS)

[Glycosylated proteins, blood sugar levels and postnatal growth in very low birth weight (less than 1500 g) neonates]. / Glucosilált proteinek, vércukorszint és postnatalis növekedés igen kis súlyú (less than 1500 g) koraszülöttekben.

The concentration of HbA1c, glycosilated serum proteins and blood glucose were followed up during the first eight postnatal weeks in 10 preterm babies of mean (+/- SD) birthweight and gestational age of 1259 +/- 140 g and 30.2 +/- 2.0 weeks, respectively. Both blood glucose and the glucosilation of proteins remained unchanged over the study period. No relationship was found either between growth rate and blood glucose level, or the latter and HbA1c concentration. Statistically significant correlationship could be observed between carbohydrate and total calorie intake and growth rate, but only during the first four postnatal weeks.

[Mortality among mature neonates requiring intensive care]. / Intenzív ellátást igénylö érett újszülöttek halálozása.

Causes of mortality among term infants hospitalized in a Neonatal Intensive Care Unit during a period of five years were investigated. Among the 107 fatal cases analyzed, congenital malformation was the cause of death in 63 and hypoxia/asphyxia in 35 cases, whereas 9 newborns died primarily of infection. Though congenital malformation is the leading cause of mortality, nevertheless, also perinatal asphyxia and primary and secondary infections play an important role. The utmost importance of prevention and proper medical care is emphasized.

[Normal percentiles of kidney size in children as measured by ultrasonography]. / A gyermekek normális veseméretének UH-vizsgálati percentilis standardjai.

The most anomaly of kidney development and urinary tract diseases have an effect on the size of the kidneys. Kidney size (renal length and parenchymal thickness) is readily measurable by ultrasonography, but the evaluation remains subjective without the use of appropriate standards. The aim of authors was, to produce a centile chart for normal kidney size based on US measurement in healthy Hungarian children. Renal length and renal parenchymal thickness (upper pole, middle part and lower pole) as well body weight and height were measured in 330 children. Normograms (centile charts) with 10th, 50th and 90th centiles were produced for body weight/height and renal length/parenchymal thickness. Renal length correlated strongly with both body weight (r = 0.93, p < 0.001) and height (r = 0.93, p < 0.001). The centile chart for renal size enables the objective evaluation of abnormal kidney size; it can help in the early recognition and follow up of urinary diseases.

Effect of quality of feeding on serum lipoprotein levels in premature infants.

The effect of the quality of feeding on serum lipoprotein levels was studied in 30 premature infants (mean gestational age 31.7 +/- 2.0 weeks, birth weight 1568 +/- 238 g). The neonates were classified into three groups fed with breast milk and two different formulae with low and high lipid contents. No significant differences in the serum triglyceride, total cholesterol, VLDL-, LDL-, and HDL-cholesterol values were found after six week's feeding of various lipid and protein intake.

Effects of NH4Cl metabolic acidosis on proximal and distal tubular sodium reabsorption in newborn infants.

The present study was undertaken to assess the influence of acute metabolic acidosis on proximal and distal tubular sodium reabsorption in a group of 7 one-week-old neonates with a mean birth weight of 2,164 g (range: 1,300-3,750 g) and a mean gestational age of 34 weeks (range: 28-40 weeks) undergoing an NH4Cl loading test. Free water clearance during water diuresis was used to estimate separately the proximal and distal sodium reabsorption. In response to NH4Cl metabolic acidosis urine flow rate (p less than 0.01) and free water clearance (p less than 0.025) increased significantly, and there was a general tendency for creatinine, osmolar and sodium clearance to increase without achieving statistical significance. The absolute amount of sodium delivered to (p less than 0.01) and reabsorbed in the distal nephron (p less than 0.01) increased significantly in spite of the constant fractional distal reabsorption. The enhanced distal sodium reabsorption during acidosis is assumed to be related to the acidosis-induced increase in aldosterone production.

Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome.

Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.