PLATELET FUNCTIONS IN CHILDREN WITH CONGENITAL HEART DISEASE

Abstract. Goldschmidt, B. (Second Department of Paediatrics, Semmelweis Medical University, Budapest, Hungary). Platelet functions in children with congenital heart disease. Acta Paediat Scand, 63 271, 1974.–Examinations of platelet functions (bleeding time, capillary resistance, clot retraction, thrombocyte adhesiveness in vitro and in vivo, spontaneous platelet aggregation, ADP and collagen induced platelet aggregation) were performed in children with CHD. In the cases with acyanotic heart disease (30 cases) the platelet functions were normal. The majority of cases with cyanotic CHD (35 cases) are thrombocytopenic. In these cases protracted bleeding time, increased capillary fragility and reduced clot retraction may be 'observed. The pathologic symptoms are connected with the low number of platelets. In patients with cyanotic CHD the platelet adhesiveness shows in vitro and in vivo a statistically significant increase. In one third of cases, platelet aggregation is also increased in cyanotic patients. Following the administration of ADP and collagen the aggregation shows a normal course.     

CHROMOSOMAL CONDITIONS IN CONGENITAL HEART DISEASE

Chromosome studies were made in 100 patients with congenital cardiovascular disease. Twelve patients had Down's syndrome with trisomy G. Four patients had Turner's syndrome with karyotype 45/XO. In one patixt, isozhromosomy or pericentric inverrion of the Y chromosome was found, and was also found in the paternal grandfather, the father and the brother, none of whom had malformations. One patient who also had severe extracardiac malformations, had partial trisomy of a group C chromosome and translocation C/D. Trans-location C/D was found in the father and sister, who were phenotypically normal. In the remaining 82 patients, normal chromosomal conditions were found, although 2 patients had presumably insignificant chromosomal variations.     

上海市杨浦,徐汇区小儿先天性心脏病发病率及其特点

为取得上海地区代表性的小儿先天性心脏病（简称先心病）发病率，对杨浦区、徐汇区在１年内出生的全部活产婴儿２００８２名进行前瞻性调查１～３年。按统一调查内容和要求对每个小儿在１岁内筛查６次，体检不少于１次。杨浦区对本区的调查对象在２岁及３岁时再筛查１次，对可疑者作心电图、胸部Ｘ线、二维或多普勒超声心动图检查，必要时作心导管、选择性心血管造影确诊，部分病例由尸检和手术证实。检得先心病１３８例，发病率为６．８７‰，与国外相似。非青紫型１０８例，占７８．３％；青紫型３０例，占２１．７％。其中室间隔缺损（简称室缺）７８例，达５６．５％，占第１位，明显高于国外的有关报道。左心病变３例，占２．２％，明显低于欧美。此调查为今后先心病的防治提供确切的资料。     

GASTRIC EMPTYING IN INFANTS WITH CONGENITAL HEART DISEASE

ABSTRACT. Cavell, B. (Department of Paediatrics, University Hospital, Lund, Sweden). Gastric emptying in infants with congenital heart disease. Acta Paediatr Scand, 70: 517,.–Gastric emptying of infant formula using a marker dilution technique was studied in 8 infants with congenital heart disease aged 1 week to 5 months. Six infants were in heart failure and 4 failed to grow. Gastric emptying followed a linear pattern in 5 and a biphasic pattern with an initial slow phase in 2 infants. The amounts of meal emptied after 1 and 2 hours, 14.7 and 31.0 ml per 0.1 m² of body surface area, respectively, were significantly smaller than the corresponding amounts found in a group of healthy infants.     

SOME EPIDEMIOLOGICAL ASPECTS OF CONGENITAL HEART DISEASE IN DENMARK

Abstract. Laursen, H. Bakgaard (Departments of Cardiology and Paediatrics, University Hospital, Århus, Denmark). Some epidemiological aspects of congenital heart disease in Denmark. Acta Paediatr Scand, 69:619, 1980.—Information on 5249 children with congenital heart disease (CHD) in the age group 0–15 years was collected from all paediatric and cardiological departments in Denmark and, furthermore, from death certificates. The mean prevalence for CHD in Denmark was 6.1 % during 11 years (1963–73); during the years 1972–73 it was 7.0 %. The mean age at detection was 25.86 months; 36% were diagnosed within the first month of life and 63% within the first year. The sex distribution was; 52%, female, 48%, male. No seasonal variation was found in the months of birth for individual cardiac anomalies. The largest group of CHD was ventricular septal defect, 24.0%, followed by persistent ductus arteriosus, 12.6%; atrial septal defect, 9.2%; coarctation of the aorta, 7.0%; pulmonary stenosis, 6.0%; and tetralogy of Fallot, 5.8%. The cumulated lethality for all 5 249 children was 25% at 1 month, 42% after 5 years, and 48% at the age of 15 years. CHD was found in 135 cases among 5835 siblings (2.3 %).     

ABNORMALITIES OF IMMUNOGLOBULINS IN INFANTS WITH CONGENITAL HEART DISEASE

Abstract. Twenty-eight infants had their serum immunoglobulins estimated (by radial immunodiffusion) in early infancy. The IgG level was abnormal in twelve infants. Elevated levels of IgA were found in ten and IgM in fourteen. These variations, mostly obvious in the first ten days of life, were detected in the absence of clinical or immunological evidence of congenital rubella infection.     

V. EXERCISE STUDIES IN CHILDREN WITH CONGENITAL HEART DISEASE. AN EARPIECE DENSITOMETRIC INVESTIGATION

Abstract: Twenty-three patients have been studied by exercise testing during right heart catheterization. Cardiac output was measured by the earpiece densitometric technique before, during and after the exercise period. It is concluded that the earpiece densitometric technique in conjunction with exercise testing offers an attractive alternative for the study of pressure and flow characteristics in children with congenital heart disease.     

COLOBOMATA OF THE IRIS, CILIARY BODY AND CHOROID IN AN INFANT WITH OESOPHAGO-TRACHEAL FISTULA AND CONGENITAL HEART DEFECTS. AN UNKNOWN MALFORMATION COMPLEX

Abstract. Lillquist, K., Warburg, M., Ry Andersen, S. and Hägerstrand, I. (Paediatric Department, Odense University Hospital, The Copenhagen Eye Clinic for the Mentally Retarded, The Institute of Eye Pathology in Copenhagen and Pathological Institute, Odense University Hospital, Denmark). Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex. Acta Paediatr Scand, 69:417, 1980.—A malformation pattern, not previously reported consisting of microphthalmia, uveal coloboma, oesophago-tracheal fistula and congenital heart defects is presented. The phaenotypical similarity and difference from previously reported cases are discussed.     

EFFECT OF FEEDING AN INFANT FORMULA WITH HIGH ENERGY DENSITY ON GASTRIC EMPTYING IN INFANTS WITH CONGENITAL HEART DISEASE

ABSTRACT. Cavell, B. (Department of Paediatrics, University Hospital, Lund, Sweden). Effect of feeding an infant formula with high energy density on gastric emptying in infants with congenital heart disease. Acta Paediatr Scand, 70:513,.–Gastric emptying of meals of standard infant formula and formula fortified with a glucose polymer (Caloreen) were compared in 7 infants with severe congenital heart disease aged 9 days to 5 months. A marker dilution technique was used in estimating gastric emptying. Gastric half-emptying times were significantly longer for meals containing Caloreen than for meals of standard infant formula. Although significantly smaller amount of meal containing Caloreen had left the stomach after 2 hours, the net transfer of energy to the intestine was larger than after feeding a standard meal.     

CONGENITAL HEPATIC FIBROSIS COMBINED WITH PROTEIN-LOSING ENTEROPATHY AND RECURRENT THROMBOSIS

Abstract. Pedersen, P. S. and Tygstrup, I. (University Clinic of Paediatrics and Laboratory of Pathology, Copenhagen, Denmark). Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis. Acta Paediatr Scand, 69: 571, 1980.—Two siblings, suffering from recurrent thrombosis and protein-losing enteropathy are presented. Histopathological examination of the liver in one of the patients, who died of multiple thrombosis, showed changes characteristic of Congenital Hepatic Fibrosis. Coagulation studies in the second child revealed decreased antithrombin-III in plasma, which might have had pathogenetic implications for the thrombosis tendency seen in both patients.     

TSH AND THYROXINE IN STORED NEONATAL FILTER-PAPER BLOOD SAMPLES FROM PATIENTS WITH CONGENITAL HYPOTHYROIDISM

ABSTRACT. Filter paper blood samples collected neonatally from infants with congenital hypothyroidism were analysed retrospectively for TSH ( n = 41) and thyroxine ( n = 16). The patients were detected by clinical signs and symptoms and treatment was started during the first two years of life. Similar blood samples from control infants were analysed for comparison. All CH patients would have been detected neonatally if screening had been based on TSH analyses with a cut-off limit corresponding to 50 mU of TSH/I of plasma. A screening programme involving analyses of thyroxine would require considerably higher recall frequency to yield 100% sensitivity. These results support a nationwide CH screening program based on TSH analyses of PKU filter paper blood samples using 50 mU/I of plasma as the cut-off limit.     

CHEMO- AND RADIOSENSITIVITY TESTING IN A PATIENT WITH ATAXIA TELANGIECTASIA AND HODGKIN DISEASE

Treatment of Hodgkin disease (HD) in ataxia telangiectasia (AT) patients is hampered by hypersensitivity to radiation and chemotherapy. Most patients die, due to toxicity or, rarely, to progressive disease. The authors report on a 9-year-old girl with stage IIA HD and AT. She was treated with a tailored combined modality approach. No unacceptable toxicity was found, but the girl died of a relapse outside their radiation field. In comparison with fibroblasts of non-AT patients, the fibroblasts of the patient were 3 times as sensitive for radiotherapy but just 1.2 times as sensitive for doxorubicin. A good correlation was shown between in vitro radio- and chemosensitivity testing and the observed clinical toxicity. The authors suggest, therefore, treating AT patients as much as possible according to standard protocols by adjusting the radiotherapy delivery and the chemotherapy regimen to individual doses derived from in vitro radio- and chemosensitivity testing.     

TYPE I GAUCHER DISEASE IN CHILDREN WITH AND WITHOUT ENZYME THERAPY

This retrospective study describes the course of 56 children with non-neuronopathic Gaucher disease who presented at <16 years and were followed at 6- to 12-month intervals for 3-9 years. Massive splenomegaly and height retardation marked those who required treatment. Enzyme replacement significantly increased hemoglobin levels; platelet counts were divergent at presentation and follow-up, regardless of therapy. Among treated patients there was a significant reduction in liver and spleen index volumes, and a significant increase in height z-scores. None of the children required splenectomy or developed lung involvement. Many patients diagnosed due to large-scale screening were very mildly affected and remain untreated.     

LINEAR GROWTH RATE, BONE MATURATION AND GROWTH HORMONE SECRETION IN PREPUBERTAL CHILDREN WITH CONGENITAL ADRENAL HYPERPLASIA

This study was designed to evaluate the effect of various oral hydrocortisone dosages on linear growth and bone maturation in a group of 21 children with congenital adrenal hyper-plasia between the age of 3 and 10 years. Treatment was monitored on urinary pregnanetriol excretion. When considering the individual annual height increment, a normal growth rate was achieved with dosages between 15 and 36 mg/per 24 hours, and a reduced growth rate with dosages between 27 and 55 mg/ per 24 hours. The same range of dosages was found when bone maturation increments were considered separately. In order to study the dose-response relationship, the slopes of individual linear growth curves (considered for minimal periods of two years) were correlated with hydrocortisone dosages. A significant negative correlation was found which assesses the growth reducing activity of hydrocortisone for dosages up to 45 mg/per 24 hours. Linear growth of children overtreated during early infancy did not show a normal catch up rate in some cases, suggesting a permanent damage of growth. In all cases growth hormone secretion was in the normal range. In late treated children, dosages between 30 and 45 mg/ per 24 hours reduced predominantly the skeletal maturation and allowed some linear growth.     

ADMINISTRATION OF INTERFERON TO AN INFANT WITH CONGENITAL RUBELLA SYNDROME INVOLVING PERSISTENT VIREMIA AND CUTANEOUS VASCULITIS

Abstract. At 7 months of age a boy suffering from congenital rubella syndrome developed a reticulated erythematous cutaneous eruption. The histopathological picture was that of a vasculitis. Rubella virus was isolated from lens tissue, throat secretion and skin biopsy in addition to urine and blood (whole blood, leukocytes as well as plasma). High levels of rubella neutralizing activity was simultaneously demonstrable in serum. The late onset cutaneous vasculitis was postulated to be related to the presence of circulating antigen-antibody complexes. At 14 months of age a therapeutic trial with partially purified human interferon was made. The patient received 3 × 10⁶ units of interferon daily for 2 weeks. During this period a marked regression of the cutaneous symptoms occurred and complete healing was obtained within two months. Furthermore, the viremia disappeared. However, excretion of rubella virus in the urine continued even at the age of 22 months and serum anti-rubella IgM activity was present as an indication of the persistent viral infection. These results indicate that the mechanism underlying the persistence of the congenital rubella infection is not exclusively a defect in the endogenous interferon response.     

CONCENTRATIONS OF DIGOXIN IN PLASMA AND URINE IN NEONATES, INFANTS, AND CHILDREN WITH HEART DISEASE

ABSTRACT. Wettrell, G., Andersson, K.-E., Bertler, Å. and Lundström, N. R. (Departments of Paediatrics and Clinical Pharmacology, University Hospital, Lund, Sweden). Concentrations of digoxin in plasma and urine in neonates, infants, and children with heart disease. Acta Paediatr Scand, 63: 705, 1974.—By means of radioimmunoassay and ⁸⁶Rb-uptake inhibition assay, concentrations of digoxin in plasma and urine have been determined in different paediatric age groups. On equal daily maintenance doses (0.012–0.013 mg digoxin/kg b.w./day) a higher mean plasma digoxin level was found in full term neonates (3–30 days), 2.1 ng/ml, than in infants (1–12 months) and children (1–10 years), 1.2 and 1.4 ng/ml, respectively. On a maintenance dose of 0.019 mg/kg b.w./day, one group of infants had an average plasma digoxin level of 2.1 ng/ml (range 1.1–2.9 ng/ml). No signs of toxicity were found. A gradual increase in the renal clearance of digoxin during the first few months of life was demonstrated. There was a highly significant correlation between the clearances of digoxin and creatinine (r=0.87, p<0.001). It is concluded that the high mean plasma digoxin level in full-term neonates could be explained by low renal elimination of the glycoside.