bluuebunny/crossref_metadata_2025 huggingface dataset:
INTESTINAL DIPEPTIDASES AND DISACCHARIDASES IN CHILDREN WITH MALABSORPTION
Authors: DAHLQVIST A. , LINDBERG T. , MEEUWISSE G. , AKERMAN M.
Published: January 2008

Intestinal enzyme activities (dipeptidases and disaccharidases) and mucosal morphology were studied in two groups of paediatric patients: one coeliac group (n=13) and one “suspected cow's milk intolerance” group (n= 5). The patients were studied before and after dietary treatment. 49 children and adults with histologically normal intestinal mucosa served as a control group.

Both groups of patients showed a marked secondary decrease in the dipeptidase and the disaccharidase activities. The decrease was more pronounced for the disaccharidase than for the dipeptidase activities, and was reversible on dietary treatment. Among the disaccharidases, the lactase and trehalase activities were most strongly depressed; in the coeliac group, the ala‐pro dipeptidase activity was more strongly affected than the other dipeptidases. However, as also the ala‐pro dipeptidase activity increased on dietary treatment, this does not provide any clue to the specificity of a hypothetical enzyme whose absence could be responsible for the disease.
RESPIRATORY QUOTIENT AND METABOLIC RATE IN NORMAL FULL‐TERM AND SMALL‐FOR‐DATE NEWBORN INFANTS1
Authors: SENTERRE J. , KARLBERG P.
Published: January 2008

Respiratory quotient and gaseous metabolism were measured in normal full‐term and small‐for‐date infants during the first week of life. In both groups RQ dropped during the first day and rose again during the next few days. However, the RQ was lower during the first 5 days in small‐for‐date infants. The O2 uptake of the small‐for‐date babies is initially lower but rises during the first 5 days.

Technical problems and clinical implications of the results are discussed.
THREE CASES OF DISSEMINATED INTRAVASCULAR COAGULATION
Authors: BERGLUND GUNILLA
Published: January 2008

Disseminated intravascular coagulation (DIC) was a complication in 3 patients with different primary diseases. The probable initiation of the DIC was a thromboplastic active tumor, a laceration wound at cesarean section with amniotic embolism in the foetus and probable endotoxin release in a newly kidney biopsied patient with subacute glomerulonephritis. The DIC was interrupted in the first patient by extirpation of the tumor, in the other two by treatment with heparin in spite of bleeding tendency.

The diagnosis can be strongly suspected by demonstrating a decrease of the fibrinogen content combined with a diminished number of platelets. A normalization of the condition can occur after interruption of the intravascular clotting by treatment with heparin.
MILD AND SEVERE PKU. COMPARATIVE STUDIES IN TWO INFANTS
Authors: HJALMARSSON O. , JAGENBURG R. , RODJER S.
Published: January 2008

Two infants with hyperphenylalaninemia first recognized at the age of 5 days were studied. One of the patients was a case of classical severe PKU. The other patient, on an unrestricted diet, showed only a slow rise in the plasma phenylalanine level amounting to 16 mg/100 ml at 3 weeks of age and had no phenylpyruvic aciduria. The plasma phenylalanine levels of the two infants were determined during fasting, after feeding and after intravenous phenylalanine loading. The results obtained did not reveal any significant difference in the phenylalanine turn over between the two infants.
SEPARATION BY GEL FILTRATION AND MICRODETERMINATION OF UNBOUND BILIRUBIN
Authors: ZAMET P. , CHUNGA F.
Published: January 2008

Extraction of unbound bilirubin by Sephadex gel filtration and measurement by a micro‐method were carried out in 45 sera from jaundiced newborns (hemolytic disease or prematures). In about half the cases some free bilirubin with values in the range 0.1 to 1 mg/100 ml was detected. Levels above 0.5 mg/100 ml were exceptional (only 2 cases). Five autopsies were performed in prematures with unbound bilirubin levels above 0.1 mg/100 ml, and one kernicterus was found. Two infants with unbound bilirubin levels of more than 0.5 mg / 100 ml had clinical symptoms of kernicterus. No symptoms of kernicterus were observed in infants with high total bilirubin together with an insignificant amount of unbound bilirubin.

The main interest of this method lies in the direct assessment of a toxic element originating from varying bilirubin and albumin levels and the micro‐environment of the bilirubin‐al‐bumin binding.

But other factors, such as the cell membrane permeability and/or the duration of exposure, are likely to play a prominent role.
RECONSTRUCTION OF OESOPHAGUS WITH COLONIC TRANSPOSITION
Authors: GROTTE G. , OLSEN L. , REUTERSKIOLD A.
Published: January 2008

With the increased experience which has been gained during recent years, transposition of the colon can be regarded as a valuable method when for various reasons it is desirable to replace the whole or parts of the oesophagus.

A series of 6 patients operated on by the retrosternal technique with good results is reported.

On the basis of this series the advantages and disadvantages of this method are discussed and compared with other types of replacement of the oesophagus by colonic transposition.
LYMPHOBLASTIC TRANSFORMATION, CHROMOSOME PATTERN AND DELAYED‐TYPE SKIN REACTION IN ATAXIA TELANGIECTASIA
Authors: SCHULER D. , SCHöNGUT L. , CSERHATI E. , SIEGLER J. , GÁCS G.
Published: January 2008

In 6 patients suffering from ataxia telangiectasia morphological evaluation of lymphoblastic transformation was performed; in one of these cases it was repeated four times. In 3 cases the incorporation of 3H‐thymidine was measured to examine the degree of the lymphoblastic transformation. Both methods revealed decreased lymphoblastic transformation, though with the last method the decrease was much greater. No correlation was found between the degree of decreased blastic transformation, the infections and the plasma IgA level. Delayed‐type skin reactions were subnormal in varying degrees. Increased frequency of chromosome breakage was observed in 1 case–who developed malignancy and died– but no chromosomal aberrations were found in the three other cytogenetically examined patients.
THE BEHAVIOUR OF SOME INDICES OF CALCIUM‐PHOSPHATE METABOLISM IN TURNER'S SYNDROME
Authors: SZCZEPSKI O. , WALCZAK M. , MACIEJEWSKI J. , BITTNER K. , CZEKALSKI S. , WALIGORA A.
Published: January 2008

The results of calcium and parathormone loading tests in 6 individuals with Turner's syndrome indicate a certain degree of insensitive‐ness of the tissues, especially of the kidney, when compared with healthy individuals. A similar insensitiveness expressing itself by a decrease in hydrogen ion excretion was found after ammonium chloride loading. An analysis of the results suggest the existence in this syndrome of insensitiveness of renal tubules to regulatory factors. Osteoporosis and stunting of growth may be connected partly with intestinal calcium loss occurring at puberty, and partly with this insensitiveness to regulatory factors.
MUCOPOLYSACCHARIDOSIS IN A THREE MONTHS OLD INFANT Clinical and Ultrastructural Studies
Authors: TONDEUR M. , VAMOS‐HURWITZ E. , CREMER N. , LOEB H.
Published: January 2008

A mucopolysaccharidosis is diagnosed in an infant aged 3 months. Clinical and X‐ray data are not typical, while biological studies reveal an increased mucopolysacchariduria affecting both heparan and dermatan sulfate. Study of lysosomal hydrolases in the liver discloses a normal activity of β‐galactosidase. Hepatic ultrastructure shows, in both parenchymal and Kupffer cells, the presence of clear inclusions analoguous to those found in typical mucopolysaccharidoses, although more numerous and generally smaller.
THE OCULOCEREBRORENAL SYNDROME OF LOWE IN FOUR GENERATIONS OF ONE FAMILY
Authors: PALLISGAARD G. , GOLDSCHMIDT E.
Published: January 2008

A Danish family with five proven and three additional possible cases of the oculo‐cerebro‐renal syndrome is described. All proven carriers had cataract, but the lenticular opacities varied considerably with respect to magnitude, appearance, and location. In this family, the disease was transmitted as a sex‐linked recessive trait, the complete syndrome being seen in boys only.
TEST‐MEAL IN THE DIAGNOSIS OF MALABSORPTION IN INFANCY
Authors: NORMAN ARNE , STRANDVIK BIRGITTA , ZETTERSTRÖM ROLF
Published: January 2008

A test‐meal containing 2 g of glucose per kg body weight (minimum of 20 g), 0.5 g of D‐xylose per kg, 8 ml of standardized cream (12% fat) per kg and 7 500 IU of vitamin A palmitate per kg was administered through a nasogastric tube. During the next 10 hours capillary blood samples were obtained and analysed for glucose, D‐xylose, triglycerides, and vitamin A using microanalytical methods.

The results in 16 normal infants aged 1 to 20 months are reported. The results for all parameters determined, except D‐xylose, were comparable to those previously reported using single tolerance tests. The variability related to age was pronounced for glucose, triglycerides and vitamin A.

In patients with malabsorption syndromes (cystic fibrosis, extrahepatic biliary atresia, intrahepatic cholestasis, and gluten‐induced enteropathy) the results were also comparable with those earlier observed using single tolerance tests.

A combined test‐meal has certain advantages over the examinations now used in infants with symptoms suggesting a malabsorption syndrome: a series of tolerance tests is avoided, and it is therefore easier to follow the absorption of fat and carbohydrates during the course of a disease and during a therapeutic regimen.
STABILITY OF ACID PHOSPHATASE OF FETAL RED BLOOD CELLS DURING INCUBATION WITH ACETYLPHENYLHYDRAZINE
Authors: SPENNATI G. F. , ORZALESI M. , BOTTINI E. , PIGRAM P.
Published: January 2008

Incubation of red blood cells (RBC) in vitro with acetylphenylhydrazine and without glucose produced an inactivation of acid phosphatase which was more marked in the fetal RBC than in the RBC from maternal blood. The fall in reduced glutathione (GSH) during incubation was more rapid in fetal than in maternal RBC. In each instance the fall in GSH preceded that in acid phosphatase and the two phenomena were very well correlated. The faster inactivation of acid phosphatase in the fetal RBC could be due to the higher total concentration of GSH and to its decreased stability in fetal RBC.

The stability of acid phosphatase seemed to increase in red blood cells from infants 3 days old. This finding could indicate a certain degree of heterogeneity in the fetal RBC population at birth and a rapid selection in favor of those RBC which are more fit for the new biochemical environment after birth.
NIEMANN‐PICK DISEASE AND GIANT CELL TRANSFORMATION OF THE LIVER
Authors: ASHKENAZI A. , YAROM R. , GUTMAN A. , ABRAHAMOV A. , RUSSELL A.
Published: January 2008

This report presents three siblings with neonatal jaundice who died before the age of three months. They were shown on autopsy to be suffering from Niemann‐Pick disease together with a giant cell transformation of the liver.

The resemblance of these cases to previously reported examples of the above mentioned double condition is stressed, and a suggestion is made that this variant of the Niemann‐Pick disease presents a special genotypic syndrome within the group with the biochemical disorder broadly classified as sphingomyelin lipidosis.
CARDIOMEGALY IN ASSOCIATION WITH NEONATAL HYPOGLYCAEMIA
Authors: REID M. McC. , REILLY B. J. , MURDOCK A. I. , SWYER P. R.
Published: January 2008

Fifty‐two infants with hypoglycaemia were seen over a 12 month period. Six of these infants had cardiac enlargement with signs of failure and pulmonary oedema in association with isolated hypoglycaemia. Signs and symptoms suggestive of cardiac failure corresponded to the period of hypoglycaemia and disappeared when blood sugar levels were raised by appropriate treatment.
CYSTATHIONINURIA IN A WELL BABY POPULATION
Authors: LYON I. C. T. , PROCOPIS P. G. , TURNER B.
Published: January 2008

Screening of 35 809 infants by one way chromatography revealed 15 cases of excessive cystathionine excretion. Evidence is presented to suggest that two of these are homozygous for primary cystathioninaemia. Homocystin‐uria was present transiently in one of these two infants. It is concluded that cystathionin‐uria is a benign disorder and appears to be much more common than previously recognised.
THE THIRD FONTANELLE
Authors: TAN K. L.
Published: January 2008

One thousand, nine hundred and thirty apparently normal newborn infants were examined for the presence of the third fontanelle. In addition other newborn infants with abnormalities were also screened for the same defect.

The incidence of the third fontanelle was high, in this study, among the normals, compared with past studies. The incidence seemed highest in the group weighing 2 001 to 2 500 g.

In the abnormal group, the incidence was very significantly raised in infants suffering from the congenital rubella syndrome or Down's syndrome; it was raised but not significantly in infants presenting with various other abnormalities.

The presence of the third fontanelle should alert the examiner to the possibility of other defects in the infant.
BAY B 5097, A NEW ORALLY APPLICABLE ANTIFUNGAL SUBSTANCE WITH BROADSPECTRUM ACTIVITY
Authors: MARGET WALTER , ADAM DIETER
Published: January 2008

BAY b 5097, bis‐phenyl‐(2‐chlorophenyl)‐l‐imidazolylmethane, is a fungistatically acting new antimycotic, which was used in 10 children in a dosage of 70–200 mg/kg/day, usually in two doses. Six children suffered from a Candida albicans pyelonephritis, 2 from Candida septicemia, 1 from atopic dermatitis with candidiasis and 1 from congenital toxoplasmosis. All children responded to the therapy. The possible successful treatment of a hopeless case of toxoplasmosis leads to the assumption that there might be an effect on protozoa.
INFLUENCE OF ENVIRONMENTAL TEMPERATURE AND ACIDOSIS ON LIPID MOBILIZATION IN THE HUMAN INFANT DURING THE FIRST TWO HOURS AFTER BIRTH
Authors: PERSSON BENGT , TUNELL RAGNAR
Published: January 2008

Arterial concentrations of glycerol, FFA, glucose, lactate and β‐hydroxybutyrate were serially measured during the first two hours after birth in normal fullterm infants in a thermo‐controlled environment. Blood gas tensions, acid‐base balance, pulmonary gas exchange, motor activity and heart rate were also determined: a detailed report of these data will be published separately. In 22 infants the glycerol concentrations showed a rapid immediate increase after birth wheras the rises in FFA concentrations were delayed until between 30 and 120 minutes, indicating a prompt increase in lipolysis and a suppression of lipid mobilization during the first half hour after birth. This suppression might be explained by a high rate of reesterification or oxidation of FFA within adipose tissue. The influence of environmental temperature (2 8.7‐3 4.8 oC) and degree of acidosis on the pattern of changes in FFA and glycerol were only marginal. No inhibition of lipolysis and lipid mobilization was shown in an infant who developed postnatal asphyxia.

At 120 min after birth, when acidosis had been eliminated, an inverse correlation was found between the rise in FFA from birth to 120 min and the respiratory exchange ratio (V̇co2/V̇o2).

The glucose concentrations were related neither to the FFA nor to the glycerol concentrations. The rate of elimination of lactate and β‐hydroxybutyrate was not influenced by environmental temperature or acidosis. Minute amounts of administered heparin caused an increased rise in FFA and glycerol concentrations which were associated with the appearance of lipoprotein lipase activity.
A VARIANT FORM OF BRANCHED‐CHAIN KETO ACIDURIA
Authors: HORST J. L. VAN DER , WADMAN S. K.
Published: January 2008

A case of branched‐chain keto aciduria is described. The boy's clinical picture was similar to that of patients with the intermittent form of this disorder, but severe mental retardation was present.

It proved possible to treat him successfully with a diet low in branched‐chain amino acids and, at the age of 3 years, after 18 months' treatment, his mental development corresponded with his age.

Details are given of the clinical course and the dietary treatment. The findings in the patient's family are also described, with the results of oral loading tests with 1‐leucine performed on all members of the family.
METABOLIC ALKALOSIS IN INFANTS: ROLE OF WATER DEPLETION AND CHANGES IN COMPOSITION OF STOOL
Authors: KILDEBERG POUL , ENGEL KNUD
Published: January 2008

Simple calculations of the effect of volume depletion on the concentration of titratable base of blood show this effect to be largely adequate to account for commonly observed degrees of metabolic alkalosis in patients with mild or extreme dehydration due to obstructive vomiting. This suggests that hydrochloric acid depletion per se may not be a major determinant of the blood acid‐base status in such conditions. Clearly, part of the base equivalents missing in the extracellular fluid may be sought in the cell water; but currently available evidence concerning gastrointestinal transport of acid and base invites a conception of gastrointestinal acid‐base homeostasis–and the hypothesis that in obstructive vomiting changes in the composition of stool may appreciably modify the effect of gastric hydrochloric acid depletion. In studies of intracellular buffering and net base balance in gastric alkalosis, it must be realized that the primary extracellular disturbance may be largely contractional and that stool losses (or luminal pooling) of base may be an important variable.
CONGENITAL LEUKAEMIA
Authors: HAAHR J. , HALVEG A. B.
Published: January 2008

A report is submitted of a case of leukaemia of myeloid type in a newborn boy who died on the 7th day of life, despite anti‐leukaemic therapy. The available reports on congenital leukaemia and on children born of mothers with leukaemia in pregnancy do not give any clue to the aetiology.
REQUIREMENTS FOR PROTEIN AND ESSENTIAL AMINO ACIDS IN EARLY INFANCY1Studies with a Soy‐Isolate Formula
Authors: FOMON SAMUEL J. , THOMAS LORA N. , FILER L. J. , ANDERSON THOMAS A. , BERGMANN KARL E.
Published: January 2008

Thirteen normal female infants were observed from 8 through 111 days of age while receiving a diet providing 1.62 g of protein per 100 kcal, almost entirely from soy‐isolate. Clinical observations, growth rates and serum concentrations of albumin were similar to those of female infants fed milk‐based formulas providing greater intakes of protein. On the basis of these findings, it is assumed that the requirements for protein and essential amino acids of these infants were no greater than the amounts consumed. Reasons for preferring to express requirements for proteins and amino acids per unit of calorie intake rather than per unit of body weight are presented.

The preliminary estimates of requirements presented here are believed applicable when the diet is adequate in total calories and non‐nitrogenous essential nutrients, nitrogen is provided primarily in the form of whole proteins, and protein intakes do not greatly exceed the requirement. For reasons discussed, the approach is likely to yield estimates of requirements for some amino acids that are substantially greater than the true requirements. Nevertheless, our estimates of requirements for isoleucine and methionine are distinctly less than those reported by Holt & Snyderman. We conclude that the estimates of Holt & Snyderman from studies of infants fed mixtures of amino acids are less relevant than our estimates to circumstances in which whole proteins are fed in amounts that do not greatly exceed the requirement for protein.
ANAL TONOMETRY A Diagnostic Help in Hirschsprung's Disease1
Authors: VERDER HENRIK , JOHANSEN KIRSTEN STÆHR , ENGBÆK KRÆSTEN
Published: January 2008

Manometrical measurements of reflex responses in the internal anal sphincter were made in 93 patients. In normal controls, a relaxation was obtained within the internal sphincter after distension of the rectum. Patients suffering from Hirschsprung's disease showed either a contraction in the muscle or an absence of sphincteric response. In 17 cases, where the diagnosis of Hirschsprung's disease was established by conventional means, the diagnosis was confirmed by anal tonometry in 13 cases and disproved by this method in 4 cases. The subsequent clinical course and histological findings have verified the diagnosis obtained by tonometry. In one patient it was not possible to make the diagnosis by means of the usual methods, anal tonometry showed Hirschsprung's disease and this was subsequently confirmed by biopsy.
HUNTERS SYNDROME AND COOLEY'S ANAEMIA IN THE SAME PATIENT Effect of Multiple Transfusions
Authors: BARTSOCAS CHRISTOS S. , PAPASOTIRIOU NIKI , KARAGEORGA MARKESIA , MOSER HUGO W.
Published: January 2008

It has been reported that plasma and leukocyte infusions have a beneficial effect on patients with Hurler's and Hunter's syndromes. A 5‐year‐old boy with Hunter's syndrome and Coo‐ley's anaemia is presented. This boy received a total of 38 transfusions over a 4‐year period. The usual clinical manifestations of the Hunter's syndrome were fully developed, and were not, in any obvious way, ameliorated by the transfusions.
PRIMARY PULMONARY HYPERTENSION IN INFANCY
Authors: TEISBERG PER , HOGNESTAD JENS
Published: January 2008

A clase of primary pulmonary hypertension in a 5‐week‐old child is described. The mother had used amitriptyline in the gestational period, and the possible induction Of pulmonary hypertension by this drug is discussed.
THREE SIBLINGS WITH ATYPICAL MUCOPOLYSACCHARIDOSIS
Authors: ALTAY CIGDEM , SAY BURHAN
Published: January 2008

Three siblings with mucopolysaccharidoses are presented. They were found to excrete der‐matan sulfate and heparan sulfate, and had specific bony changes without any physical or mental retardation. These features were compared with those of other known cases of mucopolysaccharidoses.
A LONG‐TERM FOLLOW‐UP INVESTIGATION OF PATIENTS WITH HYPERTROPHIC PYLORIC STENOSIS—WITH SPECIAL REFERENCE TO THE PHYSICAL AND MENTAL DEVELOPMENT
Authors: BERGLUND G. , RABO E.
Published: January 2008

202 of 203 patients medically treated for hyper‐trophic pyloric stenosis at the Children's Hospital in Gothenburg 1922 to 1942 were classified according to the severity of their inanition during their disease. In the 180 registered for military service, height and the intelligence test results were investigated, and 176 of these were recently interviewed.

A significant correlation was found between the adult height and the weight loss and duration of the inanition in infancy at a constant birth weight. A numerical but not statistically significant difference could be demonstrated in the intelligence and adaptability tests between the patients with more severe under‐nutrition and those of the same age at the time they entered military service.

Another finding was that undernutrition in infancy seemed to be associated with a decreased fertility in men, especially in the siring of girls.
5‐HYDROXYINDOLEACETIC ACID IN CHILDREN WITH DOWN'S SYNDROME
Authors: ANDERSON H. , FÄLLSTRÖM S. P. , LUNDBORG P. , ROOS B.‐E.
Published: January 2008

The present study has demonstrated the existence of a defect in the metabolism of serotonin in CNS in Down's syndrome. The nature of this defect is sofar unknown.
α1‐FETOPROTEIN CONCENTRATION IN CORD SERUM AS A PARAMETER FOR GESTATIONAL AGE
Authors: NØRGAARD‐PEDERSEN B.
Published: January 2008

Quantitation of human α1‐‐foetoprotein by Laurell immunoelectrophoresis in cord serum from 258 newborn infants with a gestational age between 306 and 210 days showed a close negative correlation with gestational age (r =— 0.89). The correlation between α1‐‐foeto‐protein and birth weight was less pronounced (r=—0.60). No difference in the concentration of al‐foetoprotein was found in Small for Gestational Age (SGA), Appropriate for Gestational Age (AGA) and Large for Gestational Age (LGA) infants with the same gestational age. From a given α1‐‐foetoprotein concentration in cord blood the confidence limits for prediction of gestational age is ±16 days. In 149 infants with a gestational age ≤280 days the correlation between al‐foetoprotein and gestational age was even better (r = ‐0.92).
A “G” DELETION SYNDROME ANTI‐MONGOLISM
Authors: RICHMOND H. G. , MACARTHUR P. , HUNTER D.
Published: January 2008

The clinical features and laboratory findings in patients with deletion of a chromosome from the “G” group are described with details of a new case which reveals hitherto unrecognised features. Special studies using the chromatin banding technique have shown that the patient's tissues have partial or complete deletion of a chromosome 21.
THE RENAL RESPONSE TO AN ORAL SALT AND FLUID LOAD IN CHILDREN WITH COARCTATION OF THE AORTA
Authors: APERIA A. , BERG U. , BROBERGER O. , SÖDERLUND S. , THORÉN C.
Published: January 2008

The natriuretic effect of an oral salt load has been tested in 6 children before and after resection of coarctation of the aorta. Pre‐ and postoperative determinations of GFR and PAH clearances were also made. Preoperatively the natriuresis following the salt load was depressed, indicating enhanced tubular sodium reabsorption. The GFR was slightly elevated, the PAH clearance was normal and the filtration fraction was elevated. Postoperatively there was an increase in the natriuretic response and a fall in the filtration fraction. There was a significant inverse correlation between the filtration fraction and the urinary excretion of the salt load. The results suggest that coarctation of the aorta is associated with a shift in intrarenal vascular resistance and that this hemodynamic change will, by rise in the oncotic pressure of the peritubular capillaries, result in the enhancement of the tubular sodium reabsorption.
ENCOPRESIS: A Review of Thirty‐two Cases
Authors: OLATAWURA M. O.
Published: January 2008

Thirty‐two children attending a child psychiatric department with encopresis are described. Twenty‐six were discontinuous and only 6 were continuous soilers.

As a group they came from low socio‐economic, socially incompetent families and a number of children had evidence of developmental lags or neurological impairment. Coercive toilet training featured very rarely in the case histories.

Twenty‐three of the 26 discontinuous soilers had experienced stressful events prior to the onset of the symptom and many came from disrupted families.

They were, as a group, anxious children whose associated symptoms fell into the categories of neurotic or developmental disorders rather than of conduct or mixed disorders.
CONGENITAL ERYTHROPOIETIC PORPHYRIA: The Effect of Light Shielding
Authors: ERIKSEN L. , HOFSTAD F. , SEIP M.
Published: January 2008

The effect of various types of measures taken for light shielding against daylight in a recently detected case of CEP, has been followed for more than a year. It has been found that the celluloid film, “Para‐Sol”, which has a good translucency for wavelengths above 550 nm, but is not translucent to wavelengths below 510 nm, not only removes the troublesome skin lesions seen in this disease, but also. brings about an almost complete compensation of the anemia, disappearance of the splenomegaly and marked changes in the blood and urinary porphyrin patterns. In blood the erythrocyte porphyrins change from predominantly proto‐porphyrin with trace amounts of copro‐ and not detectable uroporphyrin, to high amounts of both proto‐, copro‐ and uroporphyrins. The plasma porphyrins remain essentially unchanged. The urinary pattern changes from predominantly free porphyrins to predominantly porphyrinogens.

It is suggested that the present case of congenital erythropoietic porphyria represents a new type of CEP, and that the hemolytic anemia with splenomegaly seen in CEP is due not to the inborn error itself, but to its tissue location and photochemical effect of light of wavelengths below 510 nm, when the porphyrin/porphyrinogen‐rich erythrocytes are exposed to daylight in the skin, while the skin lesions have been shown to depend primarily on the presence of an increase in the amounts of porphyrin/porphyrinogen in plasma. Cattle and the species Sciurus niger are mentioned as examples of species in which the light‐shielding effect of the fur has allowed the CEP‐gene to spread.
FAILURE TO THRIVE, IN LEBANON II. An Investigation of the Causes
Authors: KANAWATI ABDALLAH A. , McLAREN DONALD S.
Published: January 2008

From among more than 1 200 children aged 3–48 months of low socio‐economic families living in rural, suburban and urban Lebanon two contrasting groups were selected according to their Index of Thriving for detailed study at home (53 Thriving and 62 Failing to Thrive). Family, socio‐economic, living conditions, health, and dietary data were obtained. Numerous statistically significant differences were found in all categories of data between the two groups, with poorer status invariably shown by the Failing to Thrive families. The implications of the multi‐factorial nature of the causation of failure to thrive are discussed.
COMPARATIVE MEASUREMENTS OF ENZYME ACTIVITIES AND 2,3‐DIPHOSPHOGLYCERATE IN THE ERYTHROCYTES OF NEWBORNS WITH TRANSITORY HYPERBILIRUBINAEMIA
Authors: PETRICH CH. , GEMPP‐FRIEDRICH W. , GÖBEL U.
Published: January 2008

The activities of various enzymes in the ery‐throcytes of newborn infants, suffering from transitory hyperbilirubinaemia, have been studied. Phosphoglucose isomerase (p‐value = 92%) and glyceraldehyde‐3‐phosphate de‐hydrogenase (p‐value = 87%) show a decrease in icteric children. These p‐values were regarded as sufficient for furth'er investigations, because bilirubin level is influenced by many different factors. Because of the importance of glyceraldehyde‐3‐phosphate dehydrogenase for the intraerythrocyte 2,3‐diphosphoglycer‐ate level, 2,3‐diphosphoglycerate was measured and correlated to serum bilirubin. A steady decline in icteric children is noted (p‐value = 99%).
ADRENAL GLUCOCORTICOID FUNCTION IN ACUTE VIRAL INFECTIONS IN CHILDREN
Authors: ZEITOUN M. M. , HASSAN A. I. , HUSSEIN Z. M. , FAHMY M. S. , RAGAB M. , HUSSEIN M.
Published: January 2008

The hypothalamic pituitary adrenal system was studied in normal Egyptian children and in groups of children with some common viral infections including measles, chicken pox, mumps and poliomyelitis. Results showed a significant rise in plasma 17‐OHCS levels in all acute viral infections. ACTH and metyrapone tests revealed that the hypothalamic‐pituitary‐adrenal axis was functioning adequately. The value of corticosteroids in the management of acute viral infections is discussed in the light of our clinical and laboratory findings.
INHERITANCE OF CHRONIC GRANULOMATOUS DISEASE IN FEMALES Report of a Female Patient and the Leucocyte Function Studies in the Family
Authors: KOCH CHRISTIAN , SØGAARD HELMER , CHRISTENSEN MOGENS FJORD
Published: January 2008

A case of chronic granulomatous disease in a female child is presented. Onset of symptoms seem to have been somewhat delayed compared with most male patients. The results of in vitro leucocyte function studies on the patient and her parents and siblings are presented together with the results of similar studies on 6 male patients and some of their relatives. In contrast to the male patients, no heterozygote carrier state could be detected among the family members. These results are in agreement with current views on the genetics of chronic granulomatous disease, that the large majority of male cases are inherited as an X‐linked trait whereas most if not all female cases are inherited as an autosomal recessive trait. Spontaneous gene mutation cannot, however, be excluded in the present case.
A FOLLOW‐UP STUDY OF HYPERBILIRUBINAEMIA IN HEALTHY, FULL‐TERM INFANTS WITHOUT ISO‐IMMUNIZATION
Authors: BENGTSSON B. , VERNEHOLT J.
Published: January 2008

With the aim of shedding light on the indications for exchange transfusion in healthy, full term infants without iso‐immunization, a detailed follow‐up investigation was made of 226 children, of whom 111 had had neonatal hyperbilirubinaemia with maxima) bilirubin values of 20–51 mg/100 ml and the other 115 (controls) had had no visible jaundice neonatally.

The children underwent physical and neurological examinations as well as audiometric and psychological tests. Among the 111 children with neonatal hyperbilirubinaemia 2 had coordination disturbances of the athetotic type and 4 had sensorineural hearing impairment, while none of the 115 control children had such disorders. The differences in the frequencies of the e conditions were not statistically significant, however. Neither did the frequencies of subnormal intelligence and psychological disturbances in the two groups differ significantly. Exchange transfusion is recommended in healthy, full‐term infants without iso‐immunization as'a measure to prevent the serum bilirubin level from exceeding 25 mg 100 ml.
DIAGNOSTIC VALUE OF MANNITOL‐INDUCED DIURESIS IN CHILDREN
Authors: OETLIKER O. H. , SIMON J. , TIETZE H. U.
Published: January 2008

A modified technique of mannitol‐induced diuresis is described. It was used in infants and children in order to assess renal concentrating ability. Normal patients were defined as well as patients with central or renal diabetes insipidus. Aside from differentiating normal conditions and the classical forms of diabetes insipidus, the modified technique led to the definition of partial renal and partial central diabetes insipidus.
NUTRITION IN LOW‐BIRTH‐WEIGHT INFANTS: II. Repeated Intravenous Injections of Fat Emulsion
Authors: GUSTAFSON ANDERS , KJELLMER INGEMAR , OLECARD RAGNAR , VICTORIN LARSH.
Published: January 2008

Abstract. Gustafson, A., Kjellmer, I., Olegård, R. and Victorin, L. (Department of Paediatrics, Children's Hospital, and of Medicine I, Sahlgren's Hospital, Goteborg, Sweden). Nutrition in low‐birth‐weight infants. II. Repeated intravenous injections of fat emulsion. Acta Paediat Scand, 63: 177, 1974.–The elimination of an exogenous fat emulsion from the blood stream after repeated intravenous injections was investigated in two groups of low‐birth‐weight infants: 11 appropriate‐for‐date (AFD) pre‐term babies and 8 light‐for‐date (LFD) pre‐ and full‐term infants. During a period with six injections hourly of 0.15 g fat/kg 'b.w. the total lipids of plasma increased only moderately in the AFD group, from 264 to 351 mg/100 ml, while in the LFD group a progressive rise of total lipids occurred from 244 to 466 mg/100 ml. The plasma turbidity increased correspondingly more in the LFD than in the AFD group. In 5 LFD babies, where a progressive accumulation of total lipids occurred with each injection of fat emulsion, heparin was given intravenously after eight fat injections. The plasma was rapidly cleared of fat although fat injections were continued. It is concluded that AFD infants are able to hydrolyse fat emulsions given at an hourly rate of 0.15 g/kg b.w., while this amount of fat to LFD babies will cause an accumulation of plasma lipds unless heparin is supplied simultaneously.
IMPAIRED INTERFERON RESPONSE OF CHILDREN WITH CONGENITAL CYTOMEGALOVIRUS DISEASE
Authors: EMöDI G. , JUST M.
Published: January 2008

Abstract. Emödi, G. and Just, M. (Department of Microbiology and Immunology of the University Childrens Hospital, Basel Switzerland). Impaired interferon response of children with congenital cytomegalovirus disease. Acta Paediat Scand, 63: 183, 1974.–The reason for the observation, that only 1 child out of 30 newborns with congenital cytomegalovirus infection has clinical signs of congenital disease, is not known. The possibility of a defect in interferon mechanism responsible for development of congenital disease. was tested. Six infants with typical symptoms of congenital cytomegalovirus disease were compared with infants excreting virus without symptoms related to congenital infection and with healthy adults with and without virus excretion. From patients and controls lymphocytes were separated and stimulated by in vitro virus infection for interferon production capacity. A significantly reduced interferon response was found in the children with symptoms of congenital cytomegalovirus disease, compared with the different control groups. The possibility that the impaired interferon response is a genetically fixed defect leading to generalization of cytomegalovirus infection is discussed.
FLUORIDE, MINERALISATION DEFECTS OF THE ENAMEL, AND TOOTH WIDTH
Authors: GRAHNÉN H. , LYSELL L. , MYRBERG N. , OLLINEN P.
Published: January 2008

Abstract. Grahnén, H., Lysell, L., Myrberg, N. and Ollinen, P. (Departments of Pedodontics and Orthodontics, University of Umeå, Sweden and Department of Orthodontics, University of Amsterdam, The Netherlands). Fluoride, Mineralisation defects of the enamel, and tooth width. Acta Paediat Scand, 63: 188, 1974.–The purpose of the investigation was to appraise the frequency of enamel mineralisation defects in 151 children, aged 8–11 years, born and raised in a district in Vasterbotten county in northern Sweden, where the fluoride content of the drinking water ranges up to 2 mg/l, and to examine the mesiodistal widths of the teeth for effects of fluoride in these concentrations. The control group consisted of 213 children who had always lived in a town where the fluoride content of the drinking water was ≫0.0 mg/l. The mineralisation defects were recorded clinically and photographically. Owing to the various ages of the children, only mineralisation defects in permanent incisors and six‐year molars were noted. The mesio‐distal widths of the teeth were measured on plaster casts. The frequency of enamel fluorosis was high (34%) in those children whose drinking water had a fluoride content of 1.0–2.0 mg/l and also high (31%) in those children living in areas with a fluoride content of 1.0–1.2 mg/l. No satisfactory explanation can be offered for the relatively high frequency of fluorosis. There are, however, variations in the natural fluoride concentration of the ground water and probably also considerable individual variation in water consumption. This stresses the necessity of further investigation of children's fluoride intake. No significant differences in mesio‐distal widths of individual teeth could be demonstrated.
RENAL BICARBONATE REABSORPTION AND HYDROGEN ION EXCRETION IN CHILDREN WITH RECURRENT URINARY TRACT INFECTIONS: The Effect of Fluorohydrocortisone
Authors: APERIA A. , BERG U. , BROBERGER O.
Published: January 2008

Abstract. Aperia, A., Berg, U. and Broberger, O. (Department of Paediatrics, Karolinska Institutet, S:t Göran's Children's Hospital, Stockholm, Sweden). Renal bicarbonate reabsorption and hydrogen ion excretion in children with recurrent urinary tract infections. The effect of fluorohydrocortisone. Acta Paediat Scand, 63: 209, 1974.–Delayed renal response to ammonium chloride induced acidosis appears to be the earliest detectable residual dysfunction in recurrent urinary tract infections. Control of renal acidifying mechanisms was' therefore studied in 11 girls with recurrent urinary tract infections, but with normal glomerular filtration rates. The renal response to ammonium chloride induced acidosis was normal in 7 and pathological in 4 children. Bicarbonate infusion studies demonstrated that the pathological response to the ammonium chloride load was due to depression of the renal bicarbonate threshold. When, however, the plasma bicarbonate level exceeded the normal renal threshold, i.e. 24.5 mEq/litre, the reabsorptive capacity for bicarbonate was the same in the patients with pathological and normal ammonium chloride tests. Treatment with tluorohydrocortisone resulted in an increase in bicarbonate reabsorption and hydrogen ion secretion in all patients studied. It is suggested that the low bicarbonate threshold in some patients depends on selective tubular damage in a limited number of nephrons. The enhancement of bicarbonate reabsorption by bicarbonate infusion and by fluorohydrocortisone suggests that in the majority of the nephrons renal acidifying mechanisms are intact. It is also suggested that fluorohydrocortisone acts on renal acidifying mechanism mainly by increasing the availability of sodium for exchange with hydrogen ions.
CARDIAC RHABDOMYOMA IN INFANCY
Authors: HARINCK ERIC , MOULAERT ANDRé J. M. G. , ROHMER JOHN , BROM A. GERARD
Published: January 2008

Abstract. Harinck, E., Moulaert, A. J. M. G., Rohmer, J. and Brom, A. G. (Departments of Paediatric Cardiology and Thoracic Surgery, University Hospital, Leiden, The Netherlands). Cardiac rhahdomyoma in infancy. Acta Paediat Scand, 63:283, 1974.–The clinical picture of three cases of cardiac rhahdomyoma is presented. Surgical removal was attempted in two cases. One of them is still alive 9 years after the operation hut has a severe mental retardation due to the associated tuberous sclerosis. Particular attention is given to the frequent association of cardiac rhabdomyoma and tuberous sclerosis. With the progress of cardiac surgery rhabdomyomas of the heart often can be removed successfully but a surgical intervention is justified only in the absence of tuberous sclerosis or brain damage.
A CASE OF FOCAL DERMAL HYPOPLASIA SYNDROME (GOLTZ) WITH BILATERAL CHEILO‐GNATHO‐PALATOSCHISIS
Authors: VALERIUS N. H.
Published: January 2008

Abstract. Valerius, N. H. (Department of Paediatrics G and Department of Paediatrics TG with Queen Louise's Children's Hospital, Rigshospitalet, Copenhagen, Denmark). A case of focal dermal hypoplasia syndrome (Goltz) with bilateral cheilo‐gnatho‐palatoschisis. Acta Paediat Scand, 63:287, 1974.–A case of focal dermal hypoplasia syndrome is reported. The patient presented with a bilateral cheilo‐gnatho‐palatoschisis, which has not previously been described in association with this syndrome. A short description of the syndrome is given. It is likely that cheilo‐gnatho‐palato‐schisis is an infrequent finding in focal dermal hypoplasia syndrome, but at present there is no evidence to confirm or disprove this.
EEG FINDINGS IN JUVENILE RHEUMATOID ARTHRITIS AND OTHER CONNECTlVE TlSSUE DISEASES IN CHILDREN
Authors: LANG HEIKKI , ANTTILA RAIMO , SVÉKUS ANDRÁS , LAAKSONEN ANNA‐LIISA
Published: January 2008

Abstract. Lang, H., Anttila, R., Svékus, A. and Laaksonen, Anna‐Liisa (Department of Paediatrics and Department of Clinical Neurophysiology, University of Turku, Turku, Finland). EEG findings in juvenile rheumatoid arthritis and other connective tissue diseases in children. Acta Paediatr Scand 63: 373, 1974.–The object of the study was to determine which factors are most likely to cause EEG changes in children suffering from juvenile rheumatoid arthritis (JRA) and other connective tissue disorders. EEG curves from 100 patients were analysed; 93 of these had JRA, 3 had systemic lupus erythematosus (SLE), 2 psoriasis, 1 dermatomyositis and 1 scleroderma circumscripta.

Pathological EEG was found in 52 patients, borderline in 16 and normal EEG in 32. In the JRA group it was found that if patients had positive antinuclear antibodies or visceral symptoms like pericarditis and/or myocarditis, they had fewer pathological EEG changes than those suffering from a form of the disease with symptoms only in the joints. The number of pathological EEG findings increased with age of the patients.

Pathological EEG changes were found to occur more often in girls than boys, and were connected with those forms of the disease where, in addition to symptoms in the joints, there was fever due to the disease itself and possibly also non‐infectious leukocytosis.

No correlation was found between EEG changes and the kind of drug treatment of JRA. There was no clear correlation between EEG changes and the duration of the disease or age at onset.

In the group of seven patients with other connective tissue disorders only one with SLE had normal EEG.

The observations give reason to suppose that the pathological EEG changes, especially the slowness of activity and the asymmetrical focal disturbances, are caused by the primary cerebral process connected with the disease itself, probably vasculitis.
RENAL FUNCTION IN FALLOT'S TETRALOGY
Authors: APERIA A. , BJARKE B. , BROBERGER O. , THORéN C.
Published: January 2008

Abstract. Aperia, A., Bjarke, B., Broberger, O. and Thorén, C. (Department of Paediatrics, Karolinska Institutet, S:t Göran's Children's Hospital, Stockholm, Sweden). Renal Function in Fallot's Tetralogy. Acta Paediatr Scand, 63: 398, 1974.–Renal function was examined in 11 adults with Fallot's tetralogy. The following aspects of renal function were studied: GFR, PAH clearance, filtration fractions, the natriuretic response to an oral salt load and renal regulation of acid base balance. The GFR was found to be only moderately reduced while PAH clearance showed an almost 50% reduction in most cases studied. Consequently the filtration fraction was abnormally high. The natriuretic response to an oral salt load was generally low. The urinary sodium elimination rate was found to he independent of deviations in GFR and correlated inversely with the filtration fraction. The renal response to ammonium chloride induced acidosis WBS studied in 7 patients and was delayed in at least 3 of those. The pathological response was thought to he due to hypocapnic depression of renal HCO3 reabsorption. It is suggested that this could contribute to the mild nonlactic acidosis onen present in congenital cyanotic heart disease.
A CLINICAL STUDY OF THE DIAGNOSIS OF CYSTIC FIBROSIS BY INSTRUMENTAL NEUTRON ACTIVATION ANALYSIS OF SODIUM IN NAIL CLIPPINGS
Authors: KOLLBERG H. , EKBOHM G.
Published: January 2008

Abstract. Kollberg, H. and Ekbohm, G. (Department of Paediatrics, University Hospital, Uppsala, Sweden and Department of Statistics, University of Uppsala, Sweden). A clinical study of the diagnosis of cystic fibrosis by instrumental neutron activation analysis in nail clippings. Acta Paediatr Scand, 63: 411, 1974.–This article reports on the possibility of using instrumental neutron activation analysis (INAA) of sodium in nail clippings for diagnosing cystic fibrosis (CF) in children and adults, for detecting heterozygotes and for screening in the neonatal period. Nail clippings from 1322 newborns, 22 CF patients (two of them newborns), 52 healthy controls and 22 heterozygotes were analyzed. The discrimination between CF patients and controls was found to be precise for individuals above one year of age and INAA of nail clippings should be accepted as a diagnostic test for CF after this age. Heterozygotes could not be detected by the method. During the first five days of life there is a big overlap between the values from normal newborns and those of CF children, which makes the method invaluable for early screening for CF.
PLASMA AND BLOOD VOLUMES IN SEVERELY MALNOURISHED INFANTS
Authors: ZOUMBOULAKIS D. , ANAGNOSTAKIS D. , KIOSSOGLOU K. , AGATHOPOULOS A. , TSENGHI C.
Published: January 2008

ABSTRACT. Zoumboulakis, D., Anagnostakis, D., Kiossoglou, K., Agathopoulos, A. and Tsenghi, C. (Department of Paediatrics, Athens University, Athens, Greece). Plasma and blood volumes in severely malnourished infants. Acta Wediatr Scand, 63: 507, 1974. —This study was carried out in order to gain some insight into the plasma and blood volume fluctuations in severely malnourished infants. By means of an isotope dilution technique and microhaematocrit measurements, plasma and blood volumes were studied in 18 severely malnourished infants, aged 5 to 20 months and in 5 healthy controls, aged 3 to 20 months. Both plasma and blood volumes were found to be considerably higher in the malnourished infants (79.22±14.5 ml/kg and 119±17.8 ml/kg, respectively) than those in the controls (51.6±6.8 and 76.4±7.7 mg/kg, respectively. The differences in both instances were statistically highly significant. When, however, plasma and blood volumes were expressed not by means of the actual body weight but per kg of the expected body weight for height, there were no significant differences between malnourished (50.6±9.4 ml/kg and 76.1±12.4 ml/kg respectively), and healthy infants (51.6±6.8 ml/kg and 76.4±7.7 ml/kg respectively). These results suggest that the absolute intravascular fluid volume, which plays an important role in maintaining normal homeostasis, is unchanged in malnutrition.