bluuebunny/crossref_metadata_2025 huggingface dataset:
THE HEMOSTATIC DEFECT IN GLYCOGEN STORAGE DISEASE, TYPE I
Authors: Gilchrist Gerald S. , Fine Richard N. , Donnell George N.
Published: January 2008

Because of the ill‐defined bleeding tendency which has been reported in patients with Glycogen Storage Disease, Type 1, various aspects of hemostasis and coagulation were studied in 8 patients. Definite abnormalities in the bleeding time and platelet factor 3 availability were found in the older symptomatic individuals but all the patients, irrespective of age, exhibited significant reduction in platelet adhesiveness in spite of normal platelet aggregation after addition of ADP. Although an intracellular defect may account for the abnormal platelet function, environmental plasma factors appear to play a role in the development of the platelet lesion.
ACTINOMYCIN D AND TRANSVERSE LINES OF GROWING BONES
Authors: Aarskog Dagfinn , Hexeberg Arve
Published: January 2008

Actinomycin D in a dose of 15 µg per kilogram body weight per day for 5 days was given at intervals of two months for two years in the treatment of Wilms' tumor. It was observed that each course of actinomycin D therapy resulted in the occurrence of transverse lines of increased density at the terminal segments of growing bones. Linear growth proceeded at the expected rate in all children studied. Evidently, arrest of longitudinal growth is no prerequisite for the development of transverse lines, and even the formation of multiple lines within a relatively short period does not necessarily imply any retardation of linear growth. The formation of transverse lines in response to actinomycin D administration may indicate that interference with growth hormone secretion and/or peripheral action may be involved in the development of these lines.
FIBRINOLYTIC TISSUE ACTIVITY IN THE UROGENITAL TRACT AND THE ADRENAL GLAND OF HUMAN EMBRYOS AND NEW‐BORN
Authors: Ladehoff Aa.
Published: January 2008

The concentration of plasminogen activator in the various organs of the human genito‐urinary tract and in the adrenals was investigated in 15 fetuses (aged 15 to 24 weeks of pregnancy) and in 7 premature or still‐born infants (aged 26 to 38 weeks).
AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME
Authors: Broholm Karl‐Axel , Eeg‐Olofsson Orvar , Hall Bertil
Published: January 2008

A mentally retarded girl with some signs of de Lange syndrome is described. The proposita has a chromosomal aberration, inherited from her unaffected mother. One chromosome of group B and one of group D are engaged in the translocation, and the possibility of a third chromosome being involved in this rearrangement cannot be excluded. The proposita has a partial D trisomy. The variability of de Lange syndrome is discussed.
METACHROMATIC LEUCODYSTROPHY IN EARLY CHILDHOOD Treatment with a diet deficient in vitamin A
Authors: Melchior Johannes C. , Clausen Jørgen
Published: January 2008

The clinical, biochemical and pathological findings in a family with four cases of metachromatic leucodystrophy are presented. The biochemical studies of one of the cases revealed the absence of urinary sulphatase A and the preponderance of two glycolipid fractions in urinary sediment.

The patient in question was fed a diet low in vitamin A for four months. This diet reduced the relative amount of glycolipids five times in the urinary sediment (relative to the total content of sialic acid free polar lipids). The diet did not change the sulphatase activity. However, no significant clinical improvement of the patient was noticed. The biochemical changes induced by the deficiency in vitamin A are discussed on the basis of biochemical studies showing vitamin‐A to be necessary for the synthesis of active sulphate (PAPS). PAPS is necessary for sulphate incorporation in galactoceramide during biosynthesis of sulphatide. It is suggested that a diet deficient in vitamin A may be used in treatment of metachromatic leucodystrophy.
VENOUS OCCLUSION PLETHYSMOGRAPHY IN CHILDREN I. Method
Authors: Preece A. W. , Voyce M. A.
Published: January 2008

This paper describes a simple, acceptable plethysmograph for use with children, which is operated automatically and is not effected adversely by subject non‐cooperation. The operating mechanism, thermostatic control and recording apparatus are remote from the plethysmograph chambers, two of which are used for bilateral flow measurements.
EFFECT OF PHYSICAL TRAINING ON ADOLESCENTS WITH SEVERE MOTOR HANDICAPS
Authors: Ekblom Björn , Lundberg Åke
Published: January 2008

The case material consisted of 17 pupils at the Norrbacka Institute Schools. Cerebral palsy (CP) was present in 7 cases (mediam age 19 years), and paraplegia of other origin‐chiefly myelomeningocele‐in 10 (median age 17 years). All had severe motor but not mental handicaps, and had to use a wheel‐chair for their daily activities.

Physical training was carried out for 30 minutes twice a week for 6 weeks, concurrently with the ordinary gymnastics. It consisted of fast wheel‐chair driving, exercising with medicine balls and dumb‐bells, and levering movements in a wheel‐chair and on parallel bars.

Exercise tests were made on an ergometer bicycle for arm work; the loads were submaximal for all pupils, and also maximal for 8 in the paraplegia group. Identical submaximal tests were carried out before and after the training period, together with determination of the oxygen uptake, heart rate, blood lactate concentration and roentgenological heart volume.

In the CP group, the blood lactate concentration was lower after training than before it. In the paraplegia group, significantly lower values were recorded after training for oxygen uptake, heart rate and blood lactate. No change in heart volume was detected in either group.

In the 8 pupils in the paraplegia group who could perform maximal work, a 40% increase was noted after training.

The better training results in the paraplegia group can be explained by the more severe handicap in the CP group, in which the arms were also involved in most cases. The heart rate during training was an average 140 beats/min in the paraplegia group, but only 115 beats/min in the CP group.

The results show that these severely handicapped adolescents were able to improve their working capacity, despite training being of fairly mild intensity and carried out during a relatively short period. This implies that the ordinary gymnastic lessons were inadequate for improving the pupils' working capacity, and should therefore be complemented by a training programme of the type described. A better working capacity is highly desirable for their performance at school, as well as during their activity of daily living.

It is concluded that this type of training should be included in the conventional habilitation programme for children and adolescents with motor handicaps of this type.
HEREDITARY FRUCTOSE INTOLERANCE IN FOUR SWEDISH FAMILIES
Authors: Köhlin Per , Melin Kerstin
Published: January 2008

A brief review is given of hereditary fructose intolerance. Seven adult cases of the disease from four families, two of which are distantly related, are reported. Among their relations at least two more persons have shown symptoms of fructose intolerance.

The first symptoms appeared in infancy on weaning, when sweetened formulas or fruit juice supplements were given, and consisted of retching, vomiting, and sweating.

All the subjects quickly developed strong aversion to foods containing fructose. None had dental caries. All were physically and mentally normal.

The characteristic hypoglycaemia and hypophosphataemia were observed in all cases in intravenous fructose tolerance tests. The plasma FFA showed an initial fall after injection of fructose, followed by a sharp rise. The initial fall probably supports the view that fructose is readily metabolized in adipose tissue in subjects with HFI. The subsequent rise may be due to lipolysis. The urinary excretion of adrenaline was examined in one case, and raised values were recorded during the fructose tolerance tests; the significance of this is discussed.
MALIGNANT PHEOCHROMOCYTOMA IN A CHILD: TREATMENT WITH A COMBINATION OF ALPHA‐ AND BETA‐ADRENERGIC BLOCKADE
Authors: Boréus Lars O. , Broberger Ulf , Nergårdh Arne , Zetterqvist Per
Published: January 2008

A case of inoperable malignant pheochromocytoma in a 9‐year‐old girl is described. On admission to the hospital, the patient was in poor general condition with weight loss, hypertension, a considerable left heart hypertrophy and extremely high concentrations of noradrenaline in central venous blood and urine. Alpha‐adrenergic blockade with phentolamine was insufficient to improve her condition. When the beta‐adrenergic drug, propranolol, was added, a rapid reduction of blood pressure and heart size to normal values occurred with dramatic improvement of the general condition in spite of continued high urinary output of noradrenaline. It is concluded that the symptomatic treatment of pheochromocytoma may require both alpha‐ and beta‐adrenergic blocking drugs for adequate control of the clinical symptoms in this disease.
DEVELOPMENT OF NON‐RESPIRATORY COMPONENTS OF ACID‐BASE EQUILIBRIUM IN 250 NORMAL CHILDREN AGED ONE MONTH TO 15 YEARS
Authors: Vokáč Z. , Vávrová V.
Published: January 2008

Total plasma protein, hemoglobin, standard bicarbonate, buffer base; and base excess concentrations were determined in venous blood of 250 healthy normal children of both sexes aged one month to 15 years. In infants up to one year (100 babies in all) the mean standard bicarbonate concentration was round 21 mEq/1, buffer base 43 mEq/1, and base excess – 4 mEq/1. A slight lowering of the buffering capacity of blood due, above all, to decreased hemoglobin concentration was found in these infants.

With increasing age all values come near the normal adult values but do not quite reach them even in the oldest age group of children aged 9 to 15 years. Infants especially, but also children from one to three years of age have, in comparison to adults, a marked trend towards non‐respiratory (metabolic) acidosis that, however, cannot be regarded as pathologic.
GLYCOSIDASES IN SKIN AND PLASMA IN HUNTER'S SYNDROME Abnormality of a β‐galactosidase in Skin
Authors: Öckerman P. A. , Köhlin P.
Published: January 2008

Two patients with Hunter's syndrome (mucopolysaccharidosis type II) were studied. The exact diagnosis could be settled by the finding of clinical symptoms and signs, typical for this form of mucopolysaccharidosis, and of a greatly increased excretion of glycosaminoglycans (acid mucopolysaccharides) in the urine, as well as by the fact that the patients were half‐brothers with unrelated fathers.

Analyses of glycosidases in skin demonstrated the existence of low activity of β‐galactosidase in both patients. β‐acetylglucosaminidase was more active in both patients and β‐glucuronidase in one of them than in the controls.

In plasma increased activities were noted for β‐glucuronidase and β‐acetylglucosaminidase in both patients and of β‐galactosidase and α‐mannosidase activities in one of them and of α‐fucosidase activity in the other.

The results are very similar to those described in patients with Hurler's syndrome (mucopolysaccharidosis type I).
HYPOPITUITARY DWARFISM The Importance of Early Therapy
Authors: Moe Peter Johan
Published: January 2008

Two siblings with hypoglycemia had from early infancy retardation of growth which seemed to be due to isolated deficiency of somatotropin. The father had diabetes mellitus which may be of etiologic significance. They have been followed from birth to the ages of 6 and 7 1/2 years respectively. Experience with long‐term therapy with HGH, 2 mg three times weekly, from the age of 3 1/2 and 2 years is reported. A purified HGH preparation which is supposed to contain only the somatotropin proper, seems to be preferable. A reduction of the HGH dosage to 1 mg three times weekly resulted in a marked reduction in height increments, and almost no growth was observed in the short periods without therapy. Total growth during a 4‐year‐period was 29.5 and 32.5 cm respectively. However, the therapy was probably initiated too late and the height continues to be far below the 2.5 percentile, particularly in the older child. The importance of an adequate therapy from early infancy in the more severe cases of hypopituitary dwarfism is stressed.

Attention is drawn to the hematological aspect of hypopituitary dwarfism, and the increased iron requirement during the initial period with catchup growth.
DIETARY TREATMENT OF CYSTINOSIS
Authors: Seip M. , Steen‐Johnsen J. , Vellan J. E. , Gjessing L. R.
Published: January 2008

The amino acid pattern in the urine and serum was investigated in two cases of cystinosis before and on treatment with a diet low in methionine and cystine. The cerebrospinal fluid and the liver were studied two months after dietary treatment was started. The urinary amino acids in both cases were increased, similarly as in the Fanconi syndrome. Some of the amino acids occurred in elevated amounts in serum. The aminoaciduria, therefore, must be extrarenal as well as renal in origin. The treatment with the methionine and cystine poor diet did not produce a great change in the concentration of the urinary and serum amino acids, but the amino acids showed a slight tendency towards normalization. The cerebrospinal fluid and the liver showed high levels of cystine.

Clinically there was an obvious improvement on the dietary regimen with increased well‐being, reduction of fluid intake and diuresis as well as a fall in blood urea and an increase in specific gravity of the urine. The rate of growth has been unchanged so far.

Whether all these positive findings are due to the reduced protein intake or to the reduced amounts of methionine and cystine in the diet, is difficult to decide at the present time.
IMMUNOGLOBULINS IN 13–15 TRISOMY SYNDROME DUE TO A TRANSLOCATION
Authors: Gustavson K.‐H. , Johansson S. G. O. , Wranne L.
Published: January 2008

A case of 13–15 trisomy syndrome, due to a translocation between two chromosomes of the 13–15 group, is described. The parents' karyotypes were normal. The child showed typical features of the syndrome except for the absence of harelip, cleft palate and four‐finger lines. Despite numerous infections the immunoglobulin concentrations were very low, although not significantly lower than those found in normal, non‐infected infants of the same age. At present the boy is 27 months old. Thus, he has survived longer than most other patients with this syndrome reported in the literature.
TWO PATIENTS WITH A 46, XX, Er CHROMOSOME CONSTITUTION
Authors: Leisti J. , Gripenberg U. , Kivalo E. , Palo J. , von Schoulz B. , Suomalainen E.
Published: January 2008

The clinical and cytogenetic features of two girls, aged 11 and 19, are described. Both have a ring chromosome replacing one of the chromosomes no. 18.
MENINGITIS CAUSED BY NEISSERIA CATARRHALIS
Authors: Cocchi P. , Ulivelli A.
Published: January 2008

A case is reported of meningitis due to Neisseria catarrhalis in a 14‐month‐old infant. The organism was cultured from the spinal fluid and throat. The patient recovered after penicillins, erythromycin and chloramphenicol therapy.
INTRAVENOUS INFUSION OF GLUCOSE AND SODIUM BICARBONATE IN HYALINE MEMBRANE DISEASE
Authors: SAVIGNONI P. G. , BUCCI G. , CECCAMAE A. , MENDICINI M. , ANDRE A. SCAL AM , ORZALESI M. M.
Published: January 2008

A controlled trial of the effect of intravenous infusion of glucose and sodium bicarbonate was performed in 48 low weight newborn infants with hyaline membrane disease.

The experimental design included diagnosis by clinical and radiological criteria and random assignment to the treatment and control series.

In treated infants the mortality rate was lower, early death occurred less frequently and the neonatal survival curve was improved when compared with controls. Only the difference in survival curves of treated and control patients was statistically significant.

Systolic blood pressure was found to be a factor of considerable prognostic significance.

We conclude that intravenous infusions of glucose and sodium bicarbonate should be part of the routine therapy of infants with hyaline membrane disease.
A DOUBLE BLIND TRIAL OF PREDNISOLONE IN EPIDEMIC BRONCHIOLITIS DUE TO RESPIRATORY SYNCYTIAL VIRUS
Authors: CONNOLLY J. H. , FIELD C. M. B. , GLASGOW J. F. T. , SLATTERY CLAIRE M. , MacLYNN D. M.
Published: January 2008

A double blind trial of prednisolone treatment was carried out on 95 children with clinical evidence of epidemic bronchiolitis. The trial showed that there was no difference between the prednisoIone and the placebo group in the duration of symptoms and signs.

Eighty‐four per cent of children were shown to be infected with respiratory syncytial virus. Prednisolone in the dosage used did not affect the antibody response to infection.

The presence of maternal antibody to respiratory syncytial virus, while not preventing infection, reduced the number of active antibody responses in children aged 3 months or younger.

Eight children had a double infection with respiratory syncytial virus and adenovirus which lengthened their average stay in hospital by two days and the overall duration of illness by more than three days.
HEMORRHAGIC MUCOSAL NECROSIS OF THE GASTROINTESTINAL TRACT IN THE NEWBORN
Authors: SØRENSEN F. HANBERG , VETNER M.
Published: January 2008

Two cases of hemorrhagic mucosal necrosis in the gastrointestinal tract without vascular occlusion are reported. This combination does not seem to have been previously described. Both cases were observed in newborn infants and in both cases the condition was combined with intestinal perforation. Both infants died. Possible etiologic factors are discussed and the histological criteria reviewed.
ACUTE HEMIPLEGIA IN GLYCOGEN STORAGE DISEASE, TYPE 1
Authors: FINE RICHARD N. , PODOSIN ROBERT , DONNELL GEORGE N.
Published: January 2008

A 21‐month‐old girl with GSD, Type 1 developed acute hemiplegia with homonymous hemianopsia following a prolonged hypoglycemic seizure. There was gradual improvement in motor function. However, the patient had subsequent episodes of transient blindness with and without seizure activity which were unrelated to hypoglycemia. Serial EEG findings suggested that the hemiplegia resulted from a vascular accident and led to neural dysfunction causing subsequent transient blindness.
Growth and Serun Chemical Values of Normal Breastfed Infants
Authors: J. Fomon Samuel , Filer L. J. , Thomas Lora N. , R. N.  , Ronald  , Rogers R.
Published: January 2008

One‐hundred‐and‐forty‐nine normal fullterm infants were enrolled during the first 9 days after birth in a study of breastfed infants; 104 (70%) completed the planned 112 days of observation. Lengths and weights at 8, 14, 28, 42, 56, 84 and 112 days of age are presented for each infant. Rates of gain in length and weight between various ages are summarized and some patterns of growth of individual infants are discussed. Serum chemical data at 28, 42, 56, 84 and 112 days of age are presented. Statistically significant sex‐related differences in serum concentrations of cholesterol and triglycerides (greater in females than in males) and alkaline phosphatase (greater in males than in females) are demonstrated.

It is suggested that these data on performance of normal infants breastfed by healthy mothers may be useful for evaluating the performance of other breastfed infants and of infants fed commercially available or experimental formulas.
School children with cerebral palsy at Bräcke Östergard Pediatric Habilitation Centre
Authors: OLOW INGEMAR , BERG KRISTINA
Published: January 2008

Bräcke Östergård is the regional centre för pediatric habilitation in western Sweden. All children with cerebral palsy in the region, except för the Göteborg and S province children, are registered at the Centre. The indications för full‐board admission to the Centre are guided by uniförm principles with due consideration to the need of each subject.

The internationally accepted definition of cerebral palsy is used. The classification of the subgroups of cerebral palsy is Swedish and is based on the state of the muscular tone, on the type of associated movements and on the anatomical distribution of the symptoms.
Transthoracic Impedance: V. Effects of Early and Late Clamping of the Umbilical Cord with Special Reference to the Ratio Air‐to‐Blood during Respiration
Authors: DAILY WILLIAM , OLSSON TORSTEN , VICTORIN LARS
Published: January 2008

Transthoracic impedance TTI in combination with recordings of air volume change and oesophageal pressure has been used to analyze time dependent variations in the ratio airlfluid during the first day of life, as well as the dynamic interrelationship between air and fluid in the lungs during respiration.

Two groups of infants, seven with early and seven with late clamping of the umbilical cord, were studied a t 2, 6, 12 and 24 hours of age. These groups are known to have a dif‐ference in total blood volume, decreasing during the time of study.

Especially in late‐clamped infants charac‐teristic changes in impedance variables are noted. Basic transthoracic impedance lZo(, reflecting the static ratio air/fluid, is initially low and increases till 12 hours of age, a net result of a decrease in pulmonary blood volume, interstitial fluid and possibly some contribu‐tion from an increase in pulmonary air volume.

A tendency towards a fall in IZ, I from 12 to 24 hours coincides with an enlargement of the total blood volume.

Variations between early and late‐clamped infants are larger for the dynamic impedance variables than for IZoI. The ratio IZ, I/V, of impedance variation per unit air volume change during respiration is higher for late‐clamped infants during the whole study, though decreasing with time. This implies that these infants have a larger amount of fluid in the lungs as compared with early‐clamped infants, also decreasing with time. n accordance with the presented physical model for volume relations in the lungs the amount of blood that needs to be moved into the lungs with inspiration is relatively smaller when the pulmonary blood volume is higher.

A looped relation between air volume change and impedance change during a breath lZdl, is most pronounced in late‐clamped infants a t the commencement of the study, significantly decreasing with time. The existence of a IZ, I means that a larger blood volume than necessary for the geometrical requirements has entered the lungs during inspiration, a volume that is allowed to leave in early expiration. The prerequisite of a high IZ, I is a large pulmonary blood volume. For infants with early clamping of the umbilical cord no significant variations are noted in the impedance variables.

It is concluded that late‐clamped infants, compared to early‐clamped infants, in addition to their larger total blood volume also have larger pulmonary fluid volume, the increment, mainly consisting of blood. A correlation found between change in lung compliance and the impedance variables, especially con‐cerning the late‐clamped group, and a suggestion is made that lung compliance varies inversely with the pulmonary fluid volume.
IMPAIRED LYMPHOCYTE TRANSFORMATION AND CHROMOSOMAL ABNORMALITIES IN FATAL GRANULOMATOUS DISEASE OF CHILDHOOD
Authors: BARNES R. D. , BISHUN N. P. , HOLLIDAY JEAN
Published: January 2008

A previously described case of fatal granulomatous disease of childhood is presented here as certain previous findings could not be confirmed and since two unusual features were noted. Upon the basis of impaired leucocyte function in the father of this patient a new mode of genetic transmission for the disease was proposed meanwhile we have been unable to confirm these original findings (11). This case in itself was interesting since, firstly an impaired in vitro lymphocyte transformation was noted and this later related to the presence of a serum inhibitory factor. Secondly, chromosomal abnormalities were recorded in peripheral blood cells of both patient and his mother and this might be considered evidence to favour a sex‐linked transmission of the disease in this case.
NEONATAL MENINGITIS CAUSED BY SALMONELLA THOMPSON
Authors: BERGSTRAND C. G. , NILSSON KARL OLOF
Published: January 2008

A case of neonatal meningitis caused by Salmonella Thompson is presented. In spite of adequate antibiotic treatment during 1 month a relapse occurred and treatment had to be continued for 3 months. The final outcome was very favourable and at the age of 2 years the patient appeared quite normal. During the course of the disease the immunoglobulin levels and the Widal test were followed. Evidence of an antibody deficiency syndrome explaining the patient's relapse could not be demonstrated.
TREATMENT OF CYSTINOSIS WITH A DIET POOR IN CYSTINE AND METHIONINE
Authors: CHRISTENSEN MOGENS FJORD , NIELSEN JOHN ALLAN , HENRIKSEN OLE
Published: January 2008

Two siblings with cystinosis are presented.

Case 1, a 16‐month‐old boy, presented with a severe renal tubular insufficiency. Case 2, a 7‐year‐old girl, was a dwarf with both glomerular and tubular renal insufficiency.

Case 1 was initially treated with high doses of vitamin D2 and electrolyte supplements for more than 2 months without significant alteration of the condition. Thereafter he was treated for 23 days with 150 mg penicillamine per day again without any significant clinical or biochemical improvement. Both patients were then followed through 1 year on treatment with a diet poor in cystine and methionine supplemented with cholinechloride, an anabolic steroid, high doses of vitamin D2, electrolytes, oral iron and a combined vitamin preparation. After some time there was considerable difficulty in giving the patients sufficient amounts of the diet, consequently the diet had to be modified with supplement of cow's milk. On this treatment case 1 attained a distinct clinical improvement with healed rickets and normal growth. There was no evidence of mobilisation of the stored cystine.

Case 2 obtained a healing of the rickets and some gain in height during the treatment, but otherwise the general condition was unaltered, and she continued to have increasing renal glomerular insufficiency.
FATTY ACID COMPOSITION OF PLASMA AND RED CELL PHOSPHOGLYCERIDES IN FULL TERM INFANTS AND THEIR MOTHERS1
Authors: OLEGARD RAGNAR , SVENNERHOLM LARS
Published: January 2008

Methods have been adapted and their reproducibility tested for the determination of blood lipids and the fatty acid composition of the phosphoglycerides. The main lipid classes in 20 women from the south‐western part of Sweden at term pregnancy and of umbilical cord plasma of their newborn infants were studied. Determinations were made of the fatty acid pattern of plasma phosphoglycerides and of cephalins and lecithin of red cells.

The concentration of the major lipid classes in maternal and umbilical cord plasma agreed well with previously reported figures from other countries. The maternal plasma fatty acid pattern of phosphoglycerides was similar to that of adult males. The mothers and their infants had identical concentrations of the total sum of all polyunsaturated fatty acids in plasma phosphoglycerides, in red cell lecithin and in red cell cephalins. The infants' pattern differed from the mothers' by much lower concentrations of the parent fatty acids, linoleic and linolenic acids, and correspondingly increased concentrations of the more polyunsaturated fatty acids of the two series. The fatty acid composition in the red cell lecithin of mother and infant reflected that in the corresponding plasma. The cephalins contained more polyunsaturated fatty acids than the lecithin in both mothers' and infants' red cells.

The study produced no biochemical evidence of an essential fatty acid deficiency in these newborns. The identical concentration of total polyunsaturated fatty acids in blood phosphoglycerides of mothers and infants in combination with the pronounced change in the ratio between the parent fatty acids and the highly polyunsaturated derivates, suggest a homeo‐static regulation of the fatty acid composition of the blood phosphoglycerides.
A CASE OF THE XXXXY CHROMOSOME ANOMALY WITH FOUR MATERNAL X CHROMOSOMES AND DIABETIC GLUCOSE TOLERANCE
Authors: CHRISTENSEN M. FJORD , THERKELSEN A. J.
Published: January 2008

The 49, XXXXY anomaly was found in a 2 ½‐year‐old boy with signs typical of that anomaly: physical and mental retardation, hypogenitalism and certain mongoloid features.

Determination of the Xg blood type in the patient and his parents showed that the X chromosomes were of maternal origin. The most likely explanation of the development of the anomaly is non‐disjunction twice during the meiotic divisions of the egg.

The finding of a diabetic glucose tolerance test is discussed in relation to the increased frequency of diabetes mellitus in patients with Klinefelter's syndrome.
FAMILIAL EARLY HYPOPARATHYROIDISM ASSOCIATED WITH HYPOMAGNESAEMIA
Authors: NIKLASSON E.
Published: January 2008

Two cases of idiopathic hypoparathyroidism are reported and previous cases of the disease with symptoms at an age less than one year are briefly reviewed. Unlike earlier findings there is evidence of the disease as a non‐sex‐linked trait, probably recessive. Both cases had hypo‐magnesaemia. Administration of parathyroid hormone caused in one patient a rise of the serum magnesium level, which has previously been observed in experiments on the rat.
A NEW SYNDROME OF DYSMORPHOGENESIS: IMPERFORATE‐ANUS ASSOCIATED WITH POLY‐OLIGODACTYLY AND SKELETAL (MAINLY VERTEBRAL) ANOMALIES
Authors: SAY BURHAN , BALCI SEVIM , PIRNAR TUĜRUL , TUNÇBILEK ERGÜL
Published: January 2008

Nine patients having imperforate anus and hand malformations with or without vertebral anomalies have been presented. The similarity of the findings in these patients to those seen among the members of the luxoid group of mouse mutants, such as the dominant hemimelia (Dh) mutants has been emphasized. Similar cases reported in the literature have been briefly reviewed.
FAILURE TO THRIVE IN LEBANON I. EXPERIENCE WITH SOME SIMPLE SOMATIC MEASUREMENTS
Authors: KANAWATI ABDALLAH A. , McLAREN DONALD S. , ABU‐JAWDEH ISABELLE
Published: January 2008

During a period of 12 months 1 231 Lebanese Arab children of low socio‐economic class, 3–48 months of age living in three locations were measured. The measurements were weight, height, head circumference and mid‐arm circumference. The results were expressed as percentage of international standards for boys and girls separately. The patterns of deviation from the standard values varied according to the measurement. In general for both sexes there was a falling off between 6 and 18 months, greatest for weight and mid‐arm circumference with some recovery later, and less for height and head circumference without recovery later. The possible influences of location and season of observation and birth were studied. Using these four somatic measurements an Index of Thriving was developed for the subsequent study of contrasting groups of “control” and “failure to thrive” children. The use of this and other simple means of assessing failure to thrive in the field is discussed.
POSTNATAL CHANGES IN SOME RED CELL PARAMETERS
Authors: MATOTH Y. , ZAIZOV R. , VARSANO I.
Published: January 2008

The red blood picture was studied in detail from birth to 12 weeks. The low point in the red cell count was reached in the seventh week, which represented the turning point from a negative to a positive balance between cell production and destruction. From the dynamics of the total number of circulating red cells it was concluded that, although erythropoiesis slows down after birth, a considerable amount of red cell production takes place during the first few postnatal weeks.

The MCHC increased significantly over the first 5–6 postnatal weeks and remained constant thereafter.

Macrocytes predominated at birth. Their percentage distribution decreased after the second week with a corresponding increase in microcytes.

The red cell density distribution curve in the neonatal period is sigmoid in shape. The range of densities is, however, wider than in the adult. The curve shifts gradually to the heavy side from birth to 5 weeks, while from 5 to 12 weeks a shift back to the light side is observed. Macrocytes preponderate in the light fractions.
THE HEAD CIRCUMFERENCE IN INFANTS AND OTHER MEASUREMENTS TO WHICH IT MAY BE RELATED
Authors: ILLINGWORTH R. S. , EID E. E.
Published: January 2008

Head circumference was related to weight, chest circumference, supine length, and crown rump length at birth, 6 weeks, 3 months and 6 months in fifty boys and fifty‐six girls.

1. The head circumference is highly correlated with body size especially at birth and 6 weeks.

2. The head circumference shows the best correlation with weight and chest circumference, particularly the weight, in both sexes.
ECTOPIC SPLEEN IN AN Rh INCOMPATIBLE INFANT
Authors: IANCU T. , ELIAN E.
Published: January 2008

A case of a newborn with a Erythroblastosis fetalis and “obstructive” type jaundice with an abdominal tumor, is presented. As the jaundice was found to be elicited by Rh incompatibility, the absence of a palpable spleen at the normal site suggested the possibility of the abdominal mass being an ectopic spleen. This diagnosis was confirmed at operation. The possibility of a preexisting developmental defect is elaborated upon.
DIETARY COMPOSITSION AND DENTAL DISEASE IN ADOLESCENT DIABETICS
Authors: STERKY G. , KJELLMAN O. , HÖGBERG O. , LÖFROTH A‐L.
Published: January 2008

In a group of adolescent diabetics there was a probable lower frequency of caries but a higher frequency of supragingival calculus than in the control group. The diabetics consumed relatively more protein and less refined carbohydrates, taken less frequently than nondia‐betics. The 24‐hour recalls showed good reproducibility but an unsatisfactory correspond‐ance to a 7‐day record among diabetics.
EFFECTS OF DIET ON FATTY ACID COMPOSITION OF PLASMA AND RED CELL PHOSPHOGLYCERIDES IN THREE‐MONTH‐OLD INFANTS
Authors: OLEGÅRD RAGNAR , SVENNERHOLM LARS
Published: January 2008

Concentrations of the main lipid classes in plasma and the blood phosphoglyceride fatty acid patterns were measured in 3‐month‐old infants, fed breast‐milk or an industrial manufactured formula. The levels of cholesterol and phosphoglycerides were in the normal range for young adults, but the triglyceride concentration was twice as high as in adults. There were no significant differences in the levels of the plasma lipids between the two groups, but the mean of the triglycerides was 25 % higher in the formula‐fed group.

The plasma and red cell phosphoglycerides had already assumed a fatty acid pattern of adult type. The concentration of the total polyenoic acids was significantly lower in the breast‐fed group, the difference being entirely confined to the fatty acids of the linoleic acid series. Linoleic acid was 27% and 40%, respectively, lower in plasma phosphoglycerides and red cell lecithin of breast‐fed than of formula‐fed infants, but arachidonic acid did not show any significant difference in the two groups. The concentration of the fatty acids of the linolenic acid series was higher in the breast‐fed infants. The blood lecithin ratio between the fatty acids of the linolenic acid series and the linoleic acid series was thus much lower in the formula‐fed than in the breast‐fed infants, the ratio being closely correlated with the dietary linolenate/linoleate ratio. Although the concentration of essential fatty acids was low in both plasma and red cell phosphoglycerides of breast‐fed infants, there was no increase of 20: 3 (n – 9).
THE SIMULTANEOUS DETERMINATION IN CHILDREN OF GLOMERULAR FILTRATION RATE AND EFFECTIVE RENAL PLASMA FLOW BY THE SINGLE INJECTION CLEARANCE TECHNIQUE
Authors: DONATH A.
Published: January 2008

The performance of over 1000 clearances with the single injection method allows a retrospective review on the value of this new technique. The choice of the indicator substance, the reproducibility of the method and the irradiation dosimetry do not bring up very exciting problems. The theoretical basis of the justification of the single injection method has not been proven so far and the inexactitude which may happen because of the empirical assumption that the substances used behave as in an open mamillary bicompartimental model is discussed. The author comes to the conclusion that although the rightness of the model has never been proven, the method will give sufficient precise results in practice and is proposed to a large extension because of its technical simplicity as well as for the patient as for the physician and the laboratory technician. The irradiation dose is so small that it will practically never be considered as a contra‐indication.
ORAL D‐PENICILLAMINE AND INTRAMUSCULAR BAL + EDTA IN THE TREATMENT OF LEAD ACCUMULATION
Authors: BARTSOCAS C. S. , GRUNT J. A. , JR G. W. BOYLEN , BRANDT I. K.
Published: January 2008

Oral D‐penicillamine and intramuscular BAL + EDTA have been used in the treatment of lead accumulation in three children with blood levels of at least 70 µUg per 100 ml. Lead balance studies were done during control periods and while the children were given either D‐penicillamine orally or BAL plus EDTA intramuscularly. There was a marked cumulative negative lead balance and the blood lead levels decreased to normal after 6 days with either treatment. The results indicate that D‐penicillamine given to three children orally, in doses as high as 100 mg/kg/day, is an effective and non‐toxic lead chelator for short‐term use.
INTERMITTENT MUSCULAR WEAKNESS, EXTRASYSTOLES, AND MULTIPLE DEVELOPMENTAL ANOMALIES
Authors: ANDERSEN ELLEN DAMGAARD , KRASILNIKOFF PETER A. , OVERVAD HANS
Published: January 2008

A description is given of an eight‐year‐old boy with extrasystoles, seizures of muscular weakness, and multiple developmental anomalies (dwarfism, scaphocephalic skull, hypertelorism, bilateral ptosis, low‐set ears, broad nose, mandibular hypoplasia, aplasia of a number of teeth, defect of both the soft and osseous palate, inward bending of the fifth fingers, single transverse palmar crease of both hands, and cryptorchidism). These findings suggest a specific syndrome, but no similar description was found in the literature. The investigations disclosed no signs of either a chromosomal, a neuromuscular, or an endocrine disease.
STUDIES ON MATURITY IN NEWBORN INFANTS
Authors: FINNSTRÖM ORVAR
Published: January 2008

Five anthropometric measurements, birth weight, crown‐heel length, head circumference, occipito‐frontal diameter, and bi‐parietal diameter were recorded in a group of 174 newborn infants of various gestational ages.

The material was selected to contain a relatively large number of infants with extreme birth weights and/or gestational ages.

Head circumference was better correlated to gestational age than were the other four measurements. Birth weight and crown‐heel length had the same degree of correlation to gestational age. The two skull diameters showed significantly lower correlations to gestational age. The confidence limits for estimating gestational age on the basis of the mean value for head circumference were ±26.1 days in this material.

In SGA infants, crown‐heel length and head circumference were not significantly greater than in pre‐term infants of the same birth weight.
ADHESIONS OF LABIA MINORA (SYNECHIA VULVAE) IN CHILDHOOD
Authors: CHRISTENSEN EDEL HARLUND , ØSTER JAKOB
Published: January 2008

The diagnostic and therapeutic problems in 14 cases of adhesions of the labia minora in children are mentioned. It was found that the condition is quite frequent, is acquired and occurs predominantly during the first 2 years of life.

Thorough investigation of the external genitalia in little girls is essential to establish the diagnosis. This is important because the treatment, in which the adhesions are ruptured by means of slight lateral traction, is very easy and painless and because the untreated condition may result in urinary symptoms. Follow‐up treatment with an indifferent ointment applied to the exposed epithelial surfaces is important in order to avoid recurrence.

Recognition of the condition is important as incorrect interpretation as pseudohermaphroditism may cause much anxiety and trouble for the children and their families.

The pathogenesis is unknown and the hypothesis that it is due to an exaggerated form of the normal childhood hypoestrogenism in the affected children deserves further investigation.
IDENTIFICATION OF THE Y CHROMOSOME BY THE FLUORESCENCE TECHNIQUE IN AN XY/X0 GONADAL DYSGENESIS
Authors: SEVERI FRANCESCA , TIEPOLO L. , SCAPPATICCI SUSI
Published: January 2008

A phenotypic female aged 16 years had sexual hypoplasia, streak gonads and sex chromosome mosaicism. She was XY in peripheral blood cultures and XY/X0 in Fallopian tube tissue and in skin cultures. A definite identification of the XY line was made by the fluorescence technique which showed a fluorescent section corresponding to the distal segment of the long arm of one of the five achrocentrics.
PERIPHERAL CIRCULATORY RESPONSE TO PHOTOTHERAPY IN NEWBORN INFANTS
Authors: OH W. , YAO A. C. , HANSON J. S. , LIND J.
Published: January 2008

Calf blood flow (CBF), calf skin temperature, incubator wall and ambient temperature, and respiratory rate, were measured in 8 newborn infants 10 to 127 hours of age, who were treated by phototherapy because of jaundice. During phototherapy (within 30 min) the CBF increased to a range of 30 to 80% above the control values of 8.8 ± 0.9 ml/min/100 g. The CBF is correlated directly with the leg skin temperature (γ= 0.724 and 0.588 at 15 and 30 min after phototherapy respectively). The increase in CBF was associated with a fall in incubator ambient temperature, the latter is a result of the use of servo control unit in monitoring incubator temperature by epigastric skin temperature. The increase in CBF is probably evidence of peripheral vasodilatation to facilitate evaporative heat loss. An increase in respiratory rate was also observed during phototherapy. The observed increase in heat loss (and water loss) from vasodilatation and increased respiratory rate serve as a basis for the increase in insensible water loss as previously reported.
A LONG‐TERM FOLLOW‐UP INVESTIGATION OF PATIENTS WITH HYPERTROPHIC PYLORIC STENOSIS—WITH SPECIAL REFERENCE TO HEREDITY AND LATER MORBIDITY
Authors: BERGLUND G. , RABO E.
Published: January 2008

Of 203 boys treated for hypertrophic pyloric stenosis at Children's Hospital, Gothenburg, during the years 1922–1942 a total of 195 could be traced by a follow‐up investigation in 1970. All had been medically treated. Seven died during their first year of life, none of the disease directly. This number is the approximate figure for infant mortality in Sweden at that time.

The morbidity among the former patients did not differ from that for the general population. 7.5% had had peptic ulcer, the mean age at the interview was 35.6 years. This can be compared with a frequency of peptic ulcer at 16% for 50‐year olds in the population in Gothenburg.

4.5% of close relatives had had hypertrophic pyloric stenosis. The risk for the sons and daugthers was about the same, 1: 30. The brothers were the ones with the greatest risk, 1: 11.
EFFECT OF LIGHT EXPOSURE ON GUT TRANSIT TIME IN JAUNDICED NEWBORNS
Authors: RUBALTELLI F. F. , LARGAJOLLI G.
Published: January 2008

In order to elucidate the mechanism by which phototherapy induces loose stools in newborns, studies were performed on the speed of gut transit by performing the Carmine Red test on normal newborn, on jaundiced newborns before and after phototherapy.

A statistically accelerated intestinal transit was observed in jaundiced newborns treated with phototherapy.

The increased rate of intestinal transit produced by phototherapy is probably due to the action of the photo‐decomposition derivatives of bilirubin, which are excreted during phototherapy.
SIMULTANEOUS DETERMINATION OF PLASMA VOLUME AND TRANSCAPILLARY ESCAPE RATE WITH 131 I‐LABELLED ALBUMIN AND T‐1824 IN THE NEWBORN
Authors: PARVING H.‐H. , KLEBE J. G. , INGOMAR C. J.
Published: January 2008

A new micro method for plasma volume determination with T‐1824 was investigated in 10 newborn infants. Dye concentration was measured with a two wavelength spectrophotometric method. The method was found to be easy, rapid to perform and requires only 150 μl plasma. Thus several plasma samples could be obtained and the dye loss during mixing time calculated and corrected for. This is of special importance in the newborn due to the high transcapillary albumin loss mentioned below. Plasma volume was determined with 131I human serum albumin (RIHSA) serving as reference. Identical results were obtained, mean 43 ml/kg. Consequently it is concluded that the dye method, being a non‐radioactive method, should be preferred for plasma volume determination in the newborn. Transcapillary escape rate of albumin (fraction of intra‐vascular mass of albumin escaping to the extravascular space per unit time) was determined from the disappearance of intravenously injected RIHSA and T‐1824 during the first hour after the injection. The mean transcapillary escape rate with RIHSA was: 18.4%/hour, with T‐1824: 20.7%/hour (p<0.1). These values are 3 to 4 times higher than those obtained in adults thus indicating a high capillary permeability to albumin in newborns.
ACCIDENTS AND SURGICAL EMERGENCIES IN A POPULATION OF MENTALLY RETARDED CHILDREN
Authors: BERGGREEN SHEILA MARGARET
Published: January 2008

The incidence of casualties in an institution for mentally retarded children is shown to be about three times as great as in the normal Danish child population. The circumstances concerned are analysed by means of a retrospective investigation to elucidate the mechanisms involved and the contributory factors. The investigation reveals that there is a definite relationship between the degree of mental handicap and the underlying disease (e.g. epilepsy and/or cerebral paresis, mon‐golism etc.) and the incidence of casualties. Other types of incapacity such as motor handicap, anaesthesia, defective sight or hearing and other physical disease (e.g. hydrocephalus) may predispose to accidents. Some children are undoubtedly more accident‐prone than others and the cause may be found in their disease (most frequently epilepsy) while, in others, purposeless motor activity and the inability to learn from experience combined with severe or profound mental retardation appear to be responsible. Phases of accident‐proneness may be associated with the acquiring of new skills.

Some prophylactic measures are suggested which should be considered when new institutions are planned.

A broad spectrum of somatic, developmental, handicap, environmental, emotional and mental factors interplay in the production of accidents in mentally retarded patients. Attempts should be made to analyse the mechanism of every accident so that appropriate prophylactic measures can be undertaken.
LOWES SYNDROME
Authors: CYVIN K. B. , WEIDEMANN J. , BATHEN J.
Published: January 2008

Two siblings, a boy and a girl, with characteristic features of the oculo‐cerebro‐renal syndrome of Lowe are described. In both cases the impaired renal function was a predominant feature of the disease, and both died at the age of 3–4 months. Whereas the classical form of the disease probably is X‐linked recessive, other clinical variants suggest different modes of inheritance, possibly autosomal recessive.
PRIMARY HYPERPARATHYROIDISM IN CHILDHOOD
Authors: LUND H. T.
Published: January 2008

A case of primary hyperparathyroidism in a 12‐year‐old boy with renal lithiasis is reported. Laboratory investigations showed a cortisone‐resistant hypercalcemia and a low serum phosphate concentration. The renal handling of calcium and phosphate, too, was indicative of primary hyperparathyroidism. At the following operation a parathyroid adenoma was removed. The importance of estimating the serum calcium concentration in all uncertain states of disease in children is stressed, since primary hyperparathyroidism is probably un‐derdiagnosed in the pediatric age group.