bluuebunny/crossref_metadata_2025 huggingface dataset:
Arterial Blood Gas and Acid Base Balance in the Newborn Infant: Effects of Cord Clamping at Birth
Authors: OH WILLIAM , ARCILLA RENE A. , LIND JOHN , GESSNER IRA H.
Published: January 2008

Summary and Conclusion

Left atrial and proximal aortic blood samples were obtained from 118 normal term newborn infants less than 24 hours of age. PO2 pCO2 pH and buffer base were measured to evaluate the effects of early versus late cord clamping at birth. During the first three hours of life, the late clamped infants had a lower paO2, and higher paCO2, than the early clamped infants.

During the first 5 hours of life, both early and late clamped infants had mild metabolic acidosis. The blood pH was the Same in both groups in spite of the lonwer pC02, level in the early clamped infants. There was an addition, lower standard bicarbonate content and greater buffer base deficiet in the early clamped infants.
Generalized Histiocytic Reticulo‐Endotheliosis and Leuco‐Encephalopathy in Childhood
Authors: KRISTENSSON KRISTER
Published: January 2008

A report is given of a 6‐year‐old boy, who at 3 years of age suddenly developed signs of ataxia. Multiple eosinophilic granulomata of the bones were found, which healed on X‐ray treatment. Later a spastic tetraparesis and some epileptic fits complicated the picture. At autopsy a multifocal demyelinating leuco‐encephalopathy, histiocytic granulomata of the lungs and a diffuse histiocytic proliferation of the liver, spleen and thymus were found. Since a few cases of a similar demyelinating leuco‐encephalopathy hare been described in combination with HandSchüller‐Christian disease, a clinical variant of histiocytic reticulo‐endotheliosis, this combination must be more than a coincidence and has to be taken into consideration when a patient with histiocytic reticulo‐endotheliosis develops cerebral symptoms.
Neonatal Ascites and Urinary‐Tract Obstruction
Authors: LINDE NIELS CHRISTIAN
Published: January 2008

A case is reported in which ascites and anuria due to unilateral ureteral stenosis and renal agenesia on the other side developed in a 14‐day‐old girl. After relief of the stenosis, the ascites disappeared, and one year after the operation the patient is alive and well.
QUANTITATIVE STUDIES OF THE HUMAN NEONATAL CIRCULATION
Authors: WALLGREN GORAN , HANSON JOHN S. , TABAKIN BURTON S. , RÄIHÄ NIELS , VAPAAVUORI EERO
Published: January 2008

Ten premature infants were investigated with respect to central and peripheral circulatory patterns. Five of the patients had the typical picture of respiratory distress syndrome of varying severity whereas the rest were free of pulmonary pathology. The circulation in the premature infants without respiratory distress is characterized by pulmonary as well as systemic hyperkinesis and the presence of small right‐left shunts through the foramen ovale. In contrast to the findings in healthy premature infants, the respiratory distress cases usually had a low systemic and pulmonary perfusion with pronounced intra – as well as extra pulmonary right‐left shunts.
REVERSIBLE ADRENAL UNRESPONSIVENESS IN A PATIENT WITH CONGENITAL ADRENAL HYPERPLASIA
Authors: Kulin Howard E. , Wilson Hildegard W.
Published: January 2008

A 7 1/2‐year‐old boy in whom the diagnosis of congenital adrenal hyperplasia was made at age 5 weeks is presented. Treatment with exogenous corticoids was started immediately, but between ages 1 to 4 an Addisonian state intervened. Classical congenital adrenal hyperplasia then reappeared after age 6, following a reduction in corticoid replacement. Suppression of ACTH by exogenous glucucorticoid is suggested as a possible cause of this reversible adrenal failure.
STUDIES ON ERYTHRO‐KINETICS IN INFANCY XI. The Change in Circulating Red Cell Volume During the First Five Months of Life
Authors: Bratteby Lars‐Eric
Published: January 2008

Sixty measurements of circulating red cell volume using a 51Cr method were performed in 22 full‐term and 16 premature infants during the age interval 0–138 days. In 15 of these infants 2 or 3 measurements were made.

During the first 6 weeks of life the average decrease of red cell volume was 0.9% per day. In this respect no difference was found between full‐term and premature infants.

By comparing the change in red cell volume found in this study with data from the literature on the disappearance rate of foetal red blood cells from the circulation, the red blood cell production of full‐term infants during the first 2 months of life was found to be quite small and in accordance with previously published estimates.

The initial level of red cell volume was regained by the full‐term infants at the age of 5–6 months.

The data collected also contribute to information on normal values for red cell volume, plasma volume and total blood volume during early infancy.
CONGENITAL RENAL DYSPLASIA, RETINAL DYSPLASIA AND MENTAL RETARDATION ASSOCIATED WITH HYPERPROLINURIA AND HYPER‐OH‐PROLINURIA
Authors: Rokkones Torgeir , Løken Aagot Christie
Published: January 2008

A case is described with prolinuria and OH‐prolinuria associated with congenital renal dysplasia, retinal dysplasia and mental retardation. The mental disturbance showed a peculiar picture of autism. Consanguinity supports the assumption that the disease is caused by a recessive gene. There was an accumulation of nervous diseases in the family. This raises the question whether one recessive gene may condition the individual for psychiatric diseases.
CONGENITAL ADRENAL HYPOPLASIA IN TWO INFANTS
Authors: Zondek Lilly H. , Zondek Theodor
Published: January 2008

Two new cases of congenital adrenal hypoplasia in male infants have been described. In one case, the adrenals showed the true anencephalic type of the disease and the infant survived for 6 1/2 weeks without treatment. In the second case, the adrenals showed the true cytomegalic type and the infant died at the age of 27 days after treatment with steroids. There was also an accessory adrenal gland attached to the head of the right epididymis.

The significance of these findings is discussed.
CHAPTER XIII Treatment of pituitary dwarfism with human growth hormone
Authors: Roos Paul
Published: January 2008

Two mg HGH has been given twice a week to nine patients with pituitary dwarfism and to four children in whom pituitary dwarfism was suspected. All nine patients with proved hypopituitarism increased their growth velocity, the mean height increment during the first year of treatment being 10.5 cm. During the following years the growth velocity approached normal growth. None of the patients became resistant to the treatment and regular tests for antibodies were negative. None of four patients with doubtful hypopituitarism responded to the treatment.
The Intrapulmonary Arterial Pattern in Normal Infancy And in Transposition of the Great Arteries
Authors: ROBERTSON BENGT
Published: January 2008

Microangiographic and histologic studies of the pulmonary and bronchial arterial systems were carried out on 52 normal human fetuses, infants and children and on a series of 17 infants with transposition of the great arteries, isolated or associated with an interventricular septum defect. Particular attention was paid to various types of aberrations from the basic arterial pattern: arterial bronchopulmonary anastomoses, pulmobronchial arteries and bronchopulmonary arteries.

The arterial bronchopulmonary anastomoses are of essentially the same type in normal cases as in transposition of the great arteries. The normal number of anastomoses is greater in infancy and early childhood than in the late fetal and neonatal period. From the age of a few months, however, many of the anastomoses become narrowed or obliterated. Abnormal pattern of the pulmonary arterial system, including abnormal pulmobronchial arteries, is a prominent feature in isolated transposition, less so in transposition associated with interventricular septum defect. In isolated transposition there is a considerable increase in the bronchial‐artery supply of the pulmonary parenchyma proper via bronchopulmonary arteries. In transposition associated with interventricular septum defect, the bronchial‐artery supply of the pulmonary parenchyma has a normal extent or is only moderately increased.
The Development of Children in a Swedish Urban Community A Prospective Longitudinal Study
Authors: KLACKENBERG GUNNAR , KARLBERG PETTER , KLACKENBERG‐LARSSON INGRID , LICHTENSTEIN HENRIK , STENSSON JAN , SVENNBERG INGA
Published: January 2008

The social conditions of the 212 families participating in the longitudinal study during the children's first three years of life are described with reference to 23 tables and 2 figures in respect of housing standard, education, occupation and income. The material is classified under each of these variables on a 5‐grade scale in accordance with an international social grouping system (Graffar). The aggregate values of the different variables are considered to reflect the socio‐economic level of the family.
THROMBASTHENIA: A STUDY OF TWO SIBLINGS
Authors: Zaizov R. , Cohen I. , Matoth Y.
Published: January 2008

Clinical and laboratory observations on a brother and sister with congenital hemorrhagic disorder are presented. Both had prolonged bleeding time, poor clot retraction and failure of the platelets to aggregate and adhere to glass in the presence of ADP, absence of platelet extractable fibrinogen and impairment of platelet factor 3 availability. The abnormal platelet function, confirms the recent diagnostic criteria of thrombasthenia. Coagulation studies in the parents were normal. The hemostatic abnormality in thrombasthenia is discussed.
NEONATAL HYPOGLYCEMIA II. A Clinical Study of 44 Idiopathic Cases with Special Reference to Corticosteroid Treatment
Authors: Raivio Kari O.
Published: January 2008

Forty‐four newborn infants with significant hypoglycemia, i. e. with two or more true blood glucose values of 20 mg/100 ml or less, have been studied. Two thirds of the patients were males, and a similar proportion had low birth weight for gestation, mostly associated with maternal toxemia.

Hypoglycemia was diagnosed during the first day of life in 34 cases. Only three infants were asymptomatic, whereas the others exhibited various nonspecific symptoms, which generally were more severe in patients aged two or three days. A therapeutic test with glucose was positive in only 20 infants, and mostly negative before 24 hours of age. The hypoglycemia was transient in all cases.

Mental retardation with spasticity and infantile spasms has developed in four infants by the age of six months, and one of them died at the age of eight months. The others appear normal after 4–26 months of observation.

A significant effect of hydrocortisone in shortening the duration of hypoglycemia was demonstrated.

On the basis of experience with the patients reported, it is suggested that all infants with significant hypoglycemia should be efficiently treated, regardless of symptomatology.
DERMATOGLYPHS IN CONGENITAL HEART DISEASE A familial survey of 100 cases
Authors: Cascos A. Sánchez
Published: January 2008

A familial dermatoglyphic survey has been carried out in relation to 100 patients with congenital heart disease.

Separating the cases with characteristic dermatoglyphic traits from the rest it was found that they were more like their mothers than their fathers and than the remaining cases. The parents were also more alike in the same respect than the other parents.

These findings support the concept of a genetically determined fraction amongst all the patients with congenital heart disease.
THYROID CRISIS IN A 3‐YEAR‐OLD GIRL
Authors: Dahl Inge Lise
Published: January 2008

A thyroid crisis in a 3‐year old girl with previously untreated thyrotoxicosis and the treatment of it are described.
GLUCOSE‐GALACTOSE MALABSORPTION A Study with Biopsy of the Small Intestinal Mucosa
Authors: Meeuwisse G. W. , Dahlqvist A.
Published: January 2008

Intestinal biopsies from two patients with glucose‐galactose malabsorption have been subjected to biochemical and histological studies and the absorption of glucose, mannitol and sodium has been studied with a perfusion technique in one of the patients. No accumulation of glucose against a concentration gradient was found during in vitro incubation of mucosa from the patients. Phloridzin did not further decrease the slow glucose uptake by the mucosa. L‐Alanine uptake was normal. Intestinal mucosa from both parents of a patient with glucose‐galactose malabsorption accumulated glucose. In mucosa from patients with glucose‐galactose malabsorption disaccharidase activities were normal, sodium activation of invertase could be demonstrated and ouabain‐inhibited (pump‐) ATP‐ase activity was present. The histology was essentially normal both by light microscopy and electron microscopy. The per fusion study in vivo demonstrated not only a very slow absorption of glucose but also leakage of glucose into the lumen. Sodium absorption was not impaired. From the data obtained it is suggested that this inborn error of metabolism is localized at the level of the glucose‐galactose membrane carrier of the small intestinal mucosa.
A COMPARISON OF THE EFFECTS AND SIDE‐EFFECTS OF PENICILLIN V AND AMPICILLIN IN THE TREATMENT OF SCARLET FEVER
Authors: Ström Justus
Published: January 2008

A comparison of the effect of penicillin V and ampicillin in the treatment of scarlet fever has been made in two series of 110 patients each. Clinically and bacteriologically both drugs showed a very satisfactory effect, penicillin V being superior–half the dose of this drug bringing about a rather shorter period of fever, quicker elimination of bacteria, and less streptococcal recurrence. The serological reaction, judged from the antistreptolysin titre, was the same in the two series, and likewise the incidence of recurrences of scarlet fever.

As regards sife‐effects there was a considerable difference. Exanthema, sometimes accompanied by fever, occurred on the eighth to tenth day of 10 ampicillin cases (9%) but in no penicillin V case. One patient on ampicillin had a mild mucocutaneous syndrome. In 11 (10%) of the ampicillin cases and 4 of the penicillin V cases there was a clinically inexplicable febrile condition of a fairly pronounced nature beginning on the third to eighth day. The author interpret the exanthema cases as an allergic reaction of the nature of serum disease, the febrile cases on the other hand as a non‐allergic type of drug fever, perhaps being brought about by a change in the intestinal flora. A knowledge concerning the latter type of reaction is of practical significance.
AN OUTBREAK AMONG CHILDREN OF ASEPTIC MENINGITIS CAUSED BY ECHOVIRUS TYPE 9 A Clinical and Serological Study
Authors: Moshkowitz Abraham , Grinfeld Andre , Abrahamov Abraham , Nishmi Moshe
Published: January 2008

An outbreak of aseptic meningitis broke out in a limited residential area of Jerusalem, Israel, in the early summer of 1967. The patients, whose ages varied from 15 months to 10 years, presented a clinical picture of acute meningitis. Nuchal rigidity, positive Kernig's and Brudzinski's signs and high temperature were noted in all cases.

Examination of the CSF revealed pleocytosis, mostly of mononuclear cells.

Echovirus 9 was isolated from the CSF of 5 patients and from a throat swab and rectal swab taken from the sixth patient.

The outbreak lasted for 5 weeks, and all the patients recovered completely.
METHYLMALONIC ACIDEMIA A Disorder Associated with Acidosis, Hyperglycinemia, and Hyperlactatemia
Authors: Lindblad Bengt , Lindblad Bo S. , Olin Patrick , Svanberg Börje , Zetterström Rolf
Published: January 2008

The clinical and biochemical features of a case of methylmalonic acidemia, a newly described inborn error of metabolism, are reported.

The cardinal feature was chronic metabolic acidosis which was controlled by restriction of the protein intake. Periodically, exacerbations with vomiting, dehydration, lethargy, coma, and even peripheral circulatory failure have appeared. The crisis have been induced by trivial acute infections and by overloading with protein. Mild symptoms appeared in the neonatal period, crises after an age of 4 months. When the protein intake was high, there was marked muscular hypotonia, developmental retardation, and neutropenia. When acidosis was controlled by protein restriction and treatment with bicarbonate the baby made marked progress. At 23/12 years of age the development was normal.

The patient excreted large amounts of methylmalonic acid in the urine and the blood level was elevated. Other biochemical abnormalities were hyperglycinemia, hyperglycinuria, and hyperlactatemia.

The hypothesis that the basic metabolic defect in methylmalonic acidemia and the ketotic type of hyperglycinemia is the same is discussed, as are the similarities between methylmalonic acidemia and infantile lactic acidosis.
DIURNAL VARIATION OF SERUM IRON IN INFANTS AND CHILDREN
Authors: Schwartz Elias , Baehner Robert L.
Published: January 2008

The diurnal variation of serum iron found in healthy adults was evaluated in two groups of children of different ages. No variation was found in 12 children aged 2 weeks to 20 months. In contrast, there was a significant variation of the per cent relative change of serum iron from a. m. to p. m. for a group of 12 children from 3 to 14 years of age. These results support the evidence for the late appearance of a biological “clock” in children.
A SWEDISH FOETAL HAEMOGLOBIN VARIANT
Authors: Nilsson L.‐O. , Wranne L.
Published: January 2008

The infant boy of a Swedish woman with the haemoglobin variant Hb Uppsala, was studied during his first six months of life. In cord blood, two major haemoglobin fractions were seen at electrophoresis. One behaved like normal foetal haemoglobin and the other migrated faster than Hb A but slower than Hb Uppsala. When the boy was three months old, this unknown fraction had disappeared and Hb Uppsala was found. Since the abnormality of Hb Uppsala is known to be located in the α‐chain, the unknown fraction was considered to be the foetal type of Hb Uppsala.
THE RELIABILITY OF THE DIAGNOSIS OF METACHROMATIC LEUCODYSTROPHY BY PERIPHERAL NERVE BIOPSY
Authors: OLSSON YNGVE , SOURANDER PATRICK
Published: January 2008

In order to increase the certainty of the diagnosis from peripheral nerve biopsy in cases of suspected metachromatic leucodystrophy, peripheral nerves were examined from individuals belonging to three different categories, viz. cases of metachromatic leucodystrophy (MLD) verified chemically and post‐mortem, cases of other diseases afflicting the peripheral nerves, and cases with no clinical or morphological evidence of neurological disease. The method recommended for the diagnostic establishment of sulphatides is that described by v. Hirsch & Peiffer, with cresyl violet and acetic acid applied to frozen sections. Using this method the sulphatides appear as brown metachromatic granular substances, which are completely dissolved by chloroform and methanol. The most important results of the present investigation can be summarized as follows:

1. In advanced cases of MLD there is a copious accumulation of a yellow‐brown metachromatic granular substance localized partly to Schwann cells, partly to perivascular or subperineurial phagocytes. In addition, there are advanced axon and myelin lesions.

.2. In peripheral neuropathies due to causes other than MLD and in normal peripheral nerves, there are also varying amounts of brown metachromatic granules localized to nerve fibres. However, no massive accumulation occurs in perivascular or subperineurial phagocytes.

For the present, a reliable diagnosis of MLD by peripheral nerve biopsy requires the demonstration of sulphatide accumulation in typical phagocytes. In those cases in which the brown metachromatic substance can only be traced to nerve fibres and Schwann cells, no reliable diagnosis of MLD can be made, but neither can the possibility of an early stage of MLD be excluded.
THE LONG TERM PROGNOSIS OF NON‐OBSTRUCTIVE URINARY TRACT INFECTION IN INFANCY AND CHILDHOOD AFTER THE ADVENT OF SULPHONAMIDES
Authors: LINDBLAD B. S. , EKENGREN K.
Published: January 2008

One hundred and seven cases of urinary tract infection in children, hospitalized during the years 1940‐1949, were reinvestigated with an observation time ranging from 15 to 24 years. Primary and late mortality was low. Non‐obstructive urinary infections in boys show a good prognosis, concerning recurrence as well as progressive renal disease.

Non‐obstructive urinary tract infection in girls seems to be a potentially serious disease, where recurrence developed in half the cases in spite of the initial sulpha‐treatment given. A minimum of 19 % of the girls showed progressive renal disease according to radiological examinations. Early recurrence, according to the primary report, increased the risk of progressive renal disease from 4 to 30%. In 40% of the girls with late symptomatic recurrence, progressive renal disease could be diagnosed at about 20 years of age.

The reinvestigation shows that in certain individuals the child's susceptability to recurrent urinary tract infection is retained even in the adult, in whom it manifests itself as acute pyelonephritis. It is of special interest to note that between one half to one third of those who had been pregnant had suffered from urinary tract infection of pregnancy.

At about 20 years observation time negative results of single determination of blood pressure, sedimentation rate, haemoglobin, serum‐creatinine, protein or leucocytes or bacteria in the urine and maximal urinary concentration capacity does not seem to guarantee the ab‐scence of chronic or recurrent pyelonephritis. A thorough case history, including a paediatric history, is recommended in dealing with urinary tract infections in children and young adults.
ASSESSMENT FOR ADOPTION
Authors: ILLINGWORTH R. S.
Published: January 2008

A total of 156 babies were assessed for suitability for adoption in the first year, almost all of them at the age of six months, and a further 36 infants, different ones, were first assessed in their second year. They were all graded at the time of examination, and were followed up by psychologists at school age, mainly at the age of six or seven years. The I.Q. score at school was related to the grading given in infancy.

The mean I.Q. score of those placed in the first year in grade 1 (Possibly above average) was 109.1; of those placed in grade 2 (Average) was 107.3; of those in grade 3 (Doubtful) was 99.8; of those placed in grade 4 (Retarded) was 84.1. Similar figures were obtained for the 36 only seen in the second year.

Analysis of the figures shows that there was a tendency to underestimate the potential of the babies, but this could be partly explained by the fact that many had suffered emotional deprivation. On the other hand only two of 110 babies thought to be average or possibly better had an I.Q. at school of below 80.

Twenty‐one infants of a mentally defective parent had a mean I.Q. of 100.1, indicating the importance of not rejecting such infants as being unsuitable for adoption.

It is concluded that although there never can be a high correlation between tests in infancy and the subsequent career of a child, because of all the environmental factors which will influence him, nevertheless assessment in infancy is of considerable value for the purpose of assessing babies for suitability for adoption.
HEREDITARY TYROSINEMIA
Authors: BODEGÅRD GÖRAN , GENTZ JOHAN , LINDBLAD BENGT , LINDSTEDT SVEN , ZETTERSTRÖM ROLF
Published: January 2008

The clinical and biochemical findings in the case of an infant with hereditary tyrosinemia followed from birth have been reported. The child received a low protein diet from birth and a formula diet restricted in phenylalanine and tyrosine when the diagnosis was established at 54 days of age. There was a steady progress of the disease and the baby died from liver failure complicated with septicemia when he was 5½ months old. The clinical course and the biochemical findings as well as the morphological changes were typical of the acute type of the disease.

A 6½ year old brother suffers from the same disease of the chronic type and the two types of hereditary tyrosinemia therefore seem to belong to the same genotype.

The biochemical data from the patient with hereditary tyrosinemia have been compared with those in a healthy looking baby with longstanding and pronounced transient tyrosinemia of early infancy.

The patterns of amino acids in blood and of phenolic acids in urine were similar in the two patients and it is concluded that an early laboratory differential diagnosis between hereditary tyrosinemia and transient tyrosinemia may only be made by observing the biochemical response to a diet restricted in tyrosine and phenylalanine in combination with the results of phenylalanine tolerance tests.

The clinical features of hereditary tyrosinemia can apparently not be attributed to a high serum‐tyrosine concentration or to the overproduction of phenolic acids; the lack of effect of early restriction in the intake of phenylalanine and tyrosine indicates a more complex pathogenesis of hereditary tyrosinemia than a primary deficiency of p‐hydroxyphenylpyruvate hydroxylase.
STUDIES ON ERYTHRO‐KINETICS IN INFANCY
Authors: WRANNE LARS
Published: January 2008

Endogenous formation of carbon monoxide was determined in nine infants with Rh‐haemolytic disease. The calculated daily haemolysis averaged 430 mg haemoglobin per kg body weight, contrasting to the normal average of 185 mg/kg. No correlation could be found between the CO‐formation and the haemoglobin concentration of the newborn. This confirms the clinical observation that the haemoglobin concentration is not always a reliable index of the rate of haemolysis. The findings also suggest that studies of the intrauterine haemolysis do not always give true indication of the degree of foetal anaemia.
ALBUMIN METABOLISM AND GASTROINTESTINAL PROTEIN LOSS IN CHILDREN WITH NEPHROTIC SYNDROME
Authors: YSSING MINNA , JENSEN HERLUF , JARNUM STIG
Published: January 2008

In order to assess the significance of gastrointestinal protein loss as a cause of plasma protein hypercatabolism in patients with nephrotic syndrome, seven nephrotic children were studied simultaneously with radioiodine labelled albumin and a test substance, 51,Fe‐labelled iron dextran, for evaluation of gastrointestinal protein loss.

All the patients displayed a pronounced hypercatabolism of albumin, which could not be accounted for by urinary protein loss. A slightly increased gastrointestinal protein loss was demonstrated in 4 patients, whereas, in 3 patients, the faecal loss of macromolecules was within normal limits.

The relation between protein catabolism and faecal loss of macromolecules was compared in the nephrotic children and in 20 patients with protein‐losing enteropathies. It is concluded that gastrointestinal protein loss is insignificant in the nephrotic syndrome, and unable to account for the marked endogenous hypercatabolism of albumin.

Albumin synthesis was normal or somewhat increased. An abnormally high fraction of the total albumin mass was present in the intravascular space in 4 of the 7 children.
SECONDARY CYSTATHIONINURIA
Authors: STUDNITZ WILFRIED v.
Published: January 2008

Cystathioninuria was detected in 6 of 230 hospitalized children. Three had convulsions when admitted to the hospital, two severe liver malfunction of unknown cause (suspect neonatal hepatitis), and one child had severe congenital malformations and bronchopneumonia and was in a terminal stage. Cystathioninuria disappeared in 4 children (two with convulsions and two with liver malfunction) treated with pyridoxine orally. Pyridoxine treatment (2×40 mg daily) also resulted in disappearence of convulsions. The possible background to these findings is discussed.
AN INHERITED B/C TRANSLOCATION IN A DYSPLASTIC GIRL WITH PARTIAL C TRISOMY
Authors: HALL BERTIL , SVENNINGSEN NILS
Published: January 2008

A new case of partial C trisomy with many signs encountered in other chromosomal syndromes is reported. The dermatoglyphic findings on the finger tips are discussed.
I. The Development of the Hering‐Breuer Inflation Reflex
Authors: BODEGÄRD GÖRAN , SCHWIELER GÖSTA H. , SKOGLUND STEN , ZETTERSTRÖM ROLF
Published: January 2008

The Hering‐Breuer inflation reflex has been studied in babies of varying postmenstrual ages. The strength of the reflex was assessed by relating the relative increase of the length of the breathing cycle to the transpulmonary pressure when the airway was occluded.

The Hering‐Breuer inflation reflex was found to be very weak at a postmenstrual age of 32 weeks. It was then found to increase to a maximum strength at a postmenstrual age of 36 to 38 weeks. Later on there was a decline of the strength of the reflex.

The significance of the findings in relation to the frequent occurrence of periodic and irregular respiratory rhythm in infants of low gestational age has been discussed.
THE FOETAL DEVELOPMENT OF SERUM LEVELS OF IgG AND IgM
Authors: BERG TORSTEN , NILSSON BO A.
Published: January 2008

The serum concentrations of the immunoglobulins G and M were studied in non‐viable foetuses with gestational ages of 13–26 weeks, and also in premature, mature and postmature infants. Among the prematurely born infants there was an overrepresentation of infants with very low gestational ages. The serum IgG concentrations in the mothers at the time of abortion or delivery were also studied.

In full‐term infants there was a systematic difference between simultaneously taken capillary and umbilical cord samples, with higher serum concentrations of IgG in the former. For this reason umbilical cord sera were used throughout in this study.

The maternal serum concentration of IgG was found to be of some importance for the foetal IgG level. The foetal: maternal IgG ratio increased, as also did the foetal IgG concentration, exponentially during pregnancy, with the exception of its last weeks when the development took place relatively more slowly. IgM in serum was observed (>1 mg/100 ml) in two foetuses with gestational ages as short as 14 and 16 weeks. From the 24th week of pregnancy onwards, IgM was found in the serum in practically all cases. From about the 29th‐30th week of pregnancy, no significant increase in the serum IgM with increasing gestational age was observed in the infants studied.
A PATIENT WITH A DEFICIENCY OF SERUM‐CARNOSINASE ACTIVITY
Authors: van HEESWIJK P. J. , TRIJBELS J. M. F. , SCHRETLEN E. D. A. M. , van MUNSTER P. J. J. , MONNENS L. A. H.
Published: January 2008

A patient with severe mental retardation, generalized convulsions and electro‐encephalo‐graphic abnormalities has been described. A marked carnosinuria was observed on a regular diet as well as on a diet which was essentially free of carnosine. No carnosine was found in plasma of this patient on any occasion. The serum‐carnosinase activity was extremely diminished compared to control subjects. Oral loading with L‐carnosine resulted in a much greater excretion of the administered L‐carnosine compared to a control subject. The consanguineous parents of the patient also excreted large amounts of the dipeptide and had decreased serum‐carnosinase activities. Infusion with freshly prepared donor plasma, containing active carnosinase, resulted in a temporary elevation of the enzymic activity in serum and a decrease of carnosine excretion in urine.
5‐HYDROXYINDOLEACETIC ACID IN CEREBROSPINAL FLUID OF HYDROCEPHALIC CHILDREN
Authors: ANDERSSON H. , ROOS B.‐E.
Published: January 2008

There was a significant increase in the level of 5‐HIAA in lumbar CSF of children with hydrocephalus compared with “non‐hydroce‐phalic” children. In “non‐hydrocephalic” children the values of 5‐HIAA were found to be highest in the newborn successively decreasing to the levels of adult persons at the age of about one year. Prematurely born children seemed to have relatively higher levels of 5‐HIAA in CSF compared with full‐term children. Adult persons were not included in the study.

The ventriculo‐lumbar ratio in different types of hydrocephalus was calculated. A diminished level of 5‐HIAA was measured after surgery with a functioning shunt. All the findings support the theory that the cause of the increased level of 5‐HIAA is a decreased elimination of the acid metabolite from CSF. Determination of 5‐HIAA in CSF might be a simple and useful diagnostic complement in various neurological diseases, where the suspicion of hydrocephalus has arisen.
GLUCOSE‐GALACTOSE MALABSORPTION
Authors: MEEUWISSE G. W. , MELIN K.
Published: January 2008

The histories of 6 cases, 2 male and 4 female, with glucose‐galactose malabsorption (GGM) are presented. Of these, 4 have survived and are in good general health on a diet with a reduced carbohydrate content. One case died at 2 months of age with severe malnutrition due to intractible diarrhoea before a diagnosis was made. The other patient who died, was diagnosed and treated from the neonatal period, and he was progressing until infection occurred by a Candida albicans, followed by death at 3 months of age in a picture of agam‐maglobulinaemia. One patient is now a woman of 41. The main symptoms are diarrhoea from birth, dehydration and malnutrition. Glucose is found in the watery stools and there is also a slight glucosuria. Hyperosmolar serum is often seen. Two patients, not those treated at an early stage, developed renal concrements probably owing to the long lasting water loss with the stools. Treatment during the first months consisted of replacement of the ordinary dietary carbohydrates by fructose. Although the basic biochemical disorder lasts throughout life, limited amounts of starch and milk could be introduced later in infancy. Some absorption of glucose could be demonstrated, tentatively due to a second pathway for intestinal glucose absorption which is apparently not shared by galactose. Hydrolysis of disac‐charides occurred in the small intestine of GGM patients but the released glucose was absorbed no better than when administered as a monosaccharide. This implies that the site of disaccharidase activity is located more superficially at the luminal side of the epithelial cell membrane than the disturbed step of glucose and galactose transport.
GLUCOSE‐GALACTOSE MALABSORPTION
Authors: MELIN K. , MEEUWISSE G. W.
Published: January 2008

The pedigree of 6 cases (2 male and 4 female) of glucose‐galactose malabsorption is presented. Besides the 6 cases seen by the authors, there occurred in the same pedigree at least 4 more instances of death in early infancy due to intractable diarrhoea. It is likely that these resulted from glucose‐galactose malabsorption. The parents of the patients were healthy and had no history of chronic diarrhoea in infancy or thereafter. As judged by oral GTT's on two pairs of parents they had normal glucose absorption. No renal glucosuria, present in all the patients, was found in the parents. It was concluded that glucose‐galactose malabsorption has an autosomal recessive mode of inheritance.

In 5 patients (from 4 different sibships) where the urinary excretion of amino acids was examined, 4 had increased excretion of β‐aminoisobutyric acid although they were in a good nutritional state. Of 7 parents examined, 2 excreted increased amounts of the same compound. The finding of this selective aminoaciduria is probably incidental and, at least in the children, is not believed to be genetically determined.
Methods för evaluation of the physical working capacity of school children with cerebral palsy
Authors: BERG KRISTINA , BJURE JAN
Published: January 2008

Application to children with cerebral palsy of ordinary physical working capacity tests involving standardized work on bicycle ergo‐meters is not possible since the handicap of such children involves poor neuromotor control. The work load perförmed will vary since the involontary movements and tensions also are oxygen‐consuming and varying. The mechanical efficiency also changes considerably in such subjects, even at the same load in the same individual on different occasions.

Thus, direct measurements of oxygen consumption during work is the only solution. However, due to mouth involvement, it is often difficult to perförm air collection, in subjects with cerebral palsy particularly at maximal work intensity.

A simple rubber membrane was thereföre made which facilitated air collection in children with cerebral palsy.

A graphical method which correlated oxygen uptake to heart rate at two or more submaximal levels was also developed. för a rough estimate of the maximal oxygen uptake in subjects where direct determinations were not possible, extrapolation of the line to the maximal heart rate, individually determined, was done.

Training of these inactive subjects could change the original line in two ways. An improved muscular perförmance with respect to strength and technique, the “muscle” effect, seemed to increase the maximal heart rate and extended the line; a higher oxygen capacity, the “oxygen” effect, raised the original line, i.e. an increased oxygen uptake at a given heart rate was demonstrated. Either effect alone or the effects in combination increased the maximal
Effect of physical training of school children with cerebral palsy
Authors: BERG KRISTINA
Published: January 2008

The results of training school children with cerebral palsy are reported. Twenty‐two severely handicapped subjects, with a mean age of 14 years, were trained three times a week för 20 minutes each time and för varying periods, ranging between 1 1/2 and 16 months. The effect of training on the observed “maximal” oxygen uptake was pronounced: 8 subjects improved 10–15 per cent above the original value and 12 subjects 25 per cent and more. Several students subjectively noted improved perförmance and well‐being.

It was noted that inactivity during the 31/2‐months of summer vacation significantly reduced the observed “maximal” oxygen uptake incurred after a previous training period of equally long time.

A measurable training effect was sometimes not found immediately. Once an effect was noted, it seemed to continue at the same rate för several months.

It can be concluded that simple training as described here probably can be fitted into any rehabilitation program, and that it is important in increasing the physical capacity of severely handicapped children with cerebral palsy
Body composition and nutrition of school children with cerebral palsy
Authors: BERG KRISTINA , ISAKSSON BJÖRN
Published: January 2008

Height, weight, body composition, and intake of energy and of some essential nutrients were determined on 23 full‐board subjects with cerebral palsy, aged 7–21 years, from Bräcke Öster‐gärd Pediatric Habilitation Centre.

Body height was generally small för age while weight often was increased för height.

The mean body cell mass was 86 per cent of the value predicted för height.

The extracellular water was strikingly increased in all subjects.

Body fat was increased in 7 spastics and reduced in 5 spastics and in 6 of the 7 dyskinetics.

The observed energy intake was low but adequate för active metabolic mass in 11 of 23 subjects. The reduced energy requirements of most subjects resulted in an insufficient supply of several essential nutrients due to the composition of the food offered.

Low physical activity and malnutrition were suggested as possible causes of the abnormal body composition.
Effect of physical activation and of improved nutrition on the body composition of school children with cerebral palsy
Authors: BERG KRISTINA
Published: January 2008

Twenty‐two subjects with cerebral palsy and with abnormal body composition, reduced physical activity and malnutrition, were subjected to treatment with physical activation and/or improved nutrition. Nine subjects were trained för 4 months (Study A); 8 of these and 5 more subjects then received training and improved nutrition during one school‐year (Study B). Eight more subjects had only the improved nutrition för one school year (Study C).

The treatment in Studies A, B, and C had no significant effect on the initially reduced body cell mass (BCM).

The markedly increased extracellular water (ECW) was significantly reduced in Studies A and B, but not in C.

The effect of the treatment on body fat (BF) varied. In Study A, the body fat increased significantly, in Studies B and C no significant changes were observed.

The effects were interpreted as evidence of the fact that inactivity and malnutrition were relevant causes of the abnormal body composition. The observed absence of a growth spurt during the therapy indicated that the initial malnutrition could not have been too serious. A clear‐cut separation between the two therapeutic measures was not achieved, however, as an increased activity induced an increased intake of energy and of essential nutrients.
Transthoracic Impedance: I. Theoretical Considerations and Technical Approach
Authors: OLSSON TORSTEN , DAILY WILLIAM , VICTORIN LARS
Published: January 2008

For the analysis of measured values of TTI the thorax can be regarded as a practically homogeneous volume conductor.

A theoretical model is developed by which TTI can be evaluated in terms of volumes of the thorax. The instrumentation is described, and an analysis is made of the influence of leakage currents.
Transthoracic Impedance: IV. Studies of the Infant During the First Two Hours of Life
Authors: VICTORIN LARS , OLSSON TORSTEN
Published: January 2008

The initial functional adaptation has been studied with the transthoracic impedance measuring technique in infants from 15 minutes to two hours of life. The series consists of 20 newborns with early and 20 with late clamping of the umbilical cord.

All infants showed a marked fall in basic impedance IZ, I between 15 and 30 minutes of age. From 45 to 75 minutes jZ, I was virtually unchanged, a t a level somewhat lower for the late‐clamped group. During the second hour a rising IZ,/ was noted in the same group.

With the aid of a mathematical formula an extrapolation backwards from 15 minutes to the time of birth was made for lZol. The results obtained directly and after the extrapolation are discussed together with previous known facts about the adaptation process in animals and infants.

Main factors influencing IZ, I are air filling of the lungs, pulmonary blood volume and pulmonary interstitial fluid volume. The dynam‐ic interplay between these variables during the first hours is discussed.

The results suggest a pronounced increase of pulmonary blood volume and pulmonary interstitial fluid volume during the first half hour of life, simultaneously with the establish‐ment of a functional residual capacity of air in the lungs.

That infants with late clamping of the umbilical cord fall to a lower level of IZ,/ for the time period from 45 to 75 minutes is inter‐preted as reflecting a larger pulmonary blood volume in combination with a smaller func‐tional residual capacity as compared with the early‐clamped group. A rise in IZ, I for late‐clamped infants during the second hour of life points in the direction of an approximation between the two groups as pulmonary fluid and blood decreases and functional residual capacity increases in the late‐clamped group. No significant changes in transthoracic impedance were found in a control group of newborns past the post‐natal period of early adaptation to extra‐uterine life.
FIBRINOLYSIS IN HUMAN FOETUSES
Authors: EKELUND H. , HEDNER ULLA , ASTEDT B.
Published: January 2008

The fibrinolytic system was studied in blood from 74 human foetuses in the 12th to 24th gestational week and with crown‐heel lengths between 10 and 32 cm. Plasminogen could be demonstrated in all foetuses in an amount equal to about 20 per cent of that in adults. There was also a definite plasminogen activator activity and a remarkable fibrinolytic capacity. The α2‐macro‐globulin content was about 30 per cent of that in adults, while progressive antiplasmin was at, and the inhibitors of plasminogen activationabove, adult level.

The fibrinolytic system develops early in intrauterine life. Like other enzyme systems essential to life, it must serve some physiologic purpose, presumably to keep the foetomaternal circulation patent.
SERUM CREATININE VALUES IN HEALTHY CHILDREN
Authors: DONCKERWOLCKE R. A. M. G. , SANDER P. C. , STEKELENBURG G. J. VAN , STOOP J. W. , TIDDENS H. A. W. M.
Published: January 2008

This paper presents the normal serum creatinine values in 408 healthy children aged 4‐13. All determinations were carried out with a minimum volume of 50 pl serum specimen. Mean values, standard deviations, and regression lines were calculated in relation to age and body surface for practical reasons of follow‐up and assessment in indivdual patients.
SILVER'S SYNDROME1
Authors: VESTERMARK S.
Published: January 2008

A description is given of a boy and a girl with asymmetry, shortness of stature and low birth weight despite being born at term. The girl showed estrogenization of the vaginal mucosa at the age of 15 months. No chromosomal abnormalities were demonstrated.
THE LOWE SYNDROME
Authors: HAMBRÆUS LEIF , PALLISGAARD GUNNAR , KILDEBERG POUL
Published: January 2008

Ion exchange chromatographic studies of the distribution of a number of amino acids in the body fluids of a two‐year‐old boy with the oculo‐cerebro‐renal syndrome are reported. Amino acid concentrations in serum and in cerebrospinal fluid were normal, whereas studies of the urine disclosed a highly selective (renal) aminoaciduria, rather similar to that occurring in healthy premature infants.

Complementary observations on the acid‐base metabolism served to establish the presence of renal tubular acidosis, probably due to a low tubular bicarbonate threshold.

The implications of these findings are briefly discussed.
THE EFFECT OF DIURETICS IN LATE PREGNANCY ON THE NEWBORN INFANT
Authors: ANDERSEN JØRGEN BENT
Published: January 2008

The changes in water and mineral metabolism in newborn infants born of mothers, who has been treated in late pregnancy with diuretics, was investigated. It was found, that all 6 parameters: the total body water, the extracellular water, the serum concentrations of sodium potassium and chloride and the osmolality all pointed in the direction that there was a slight salt and water depletion in the infants from the mothers, treated with diuretics.

The biochemical observations were not clinically detectable.
SUDDEN UNEXPECTED DEATH IN INFANCY
Authors: STALSBERG H.
Published: January 2008

Autopsy findings in 26 typical cases of sudden and unexpected infant death (SUD) are reported and compared to findings in non‐infectious sudden deaths and deaths from acute infectious diseases. Lung edema and hyperemia were on the average more pronounced in SUD than in the controls. Bacterial colonies in histological lung sections were seen in seven SUD cases; in the control groups such findings were generally associated either with bronchopneumonia or with microscopic evidence of aspiration. Increased numbers of neutrophilic granulocytes were seen in the lung alveolar septa in SUD infants over 4 months of age, and occasional intraalveolar granulocytes were present in one third of the SUD cases. Covering of the face with bedclothes was the rule in SUD infants older than 4 months and was absent from SUD infants younger than 3 months of age. It is suggested that bacterial pneumonias that reach only to the initial phase of the disease may be the cause of many cases of SUD, and that covering of the face with bedclothes may be actively sought for by the older SUD infants under a feeling of cold accompanying a rapid rise in body temperature.
HYPERLIPIDEMIA IN TYPE III GLYCOGENOSIS
Authors: VÍTEK BOHUMIL , ŠRÁČKOVÁ DANUŠE , TOMAN MIROSLAV , KRÁTKÝ JAROSLAV , VOGNÁREK JIŘÍ
Published: January 2008

During 4 years of observation, a patient suffering from type III glycogenosis developed considerable hyperlipidemia with hyperlipoproteinemia and hypercholesterolemia. The boy repeatedly suffered from hypoglycaemia especially during infections. Our diagnosis was made on the basis of markedly increased quantities of glycogen in the liver, skeletal muscle and the erythrocytes. After a 12‐hour fast, glucagon admininstration resulted in an elevation of free fatty acids and pyruvate, no change in lactate, and no increase in glucose as measured in both the hepatic and peripheral veins. These observations can be explained by the influence of glucagon on lipolysis.