bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association Between Congenital Heart Malformation and Chromosomal Variations1
Authors: BÖÖK J. A. , SANTESSON BERTA , ZETTERQVIST PER 
Published: January 2008

SummaryA family is described in which mother rind son both displayed auricular septal defects of the secundum type while father and daughter had no cardiovascular disorders. The karyotypes of these individuals were analysed by the cell culture method using biopsies from bone marrow and skin. The majority of the cells from the mother had 47 chromosomes and she was apparently trisomic [19‐201. A similar additional chromosome of group [19‐201 wasfound in the cells derived from the son.However, he lacked one of the smallest acrocentric chromosomes. His chromosome number was 46. The father and daughter both had normal karyotypes. The significance of numerical and/or structural chromosome variation in the etiology of congenital heart malformation is discussed with regard to recent developments in clinical cytogenetics.
Chromosomal Abnormality in a Mongolism‐Like Syndrome1
Authors: BÖÖK J. A. , GUSTAVSON K.‐H. , SANTESSON BERTA 
Published: January 2008

SummaryThe cytogenetical and clinical observations of a 4 year old girl with a mongolism‐like syndrome are reported. The patient showed a moderate mental and physical retardation. Some signs and symptoms considered characteristic of mongolism were present. Others, such as the dermal patterns of hands and feet, rather contradict this diagnosis. In addition the patient had a bilateral dislocation of the hips and unspecific signs of retinal degeneration. There were no signs of abnormal sexual development.Chromosome studies based on cell cultures derived from bone marrow and skin biopsies revealed a chromosome number of 46 and a consistent karyotype pattern which was interpfeted as a combination of trisomy for chromosome no. 21 and monosomy for no. 16, or alternatively as a translocation between the short arms of 16/21. Typical sex chromatin was present in 50‐60%of the interphase nuclei. Both parents had apparently normal karyo‐types and were free from signs or symptoms of significant disease.This patient represents a new genetical disease entity and clinically a variant of the common trisomic type of mongolism.
The Morphological Development of Pulmonary Arteries During the First Years of Life
Authors: HERZENBERG H. , ESKELUND V. 
Published: January 2008

SummaryThe normal pulmonary arterial vascular bed undergoes a morphological development during infancy. The intrapulmonary arteries a t birth have narrow luminae and thick vessel walls, thus resembling the structure of systemic arteries. During the first months of life, there is a progressive change, so that the lumen of the intrapulmonary arteries widens and the thickness of the vessel wall decreases.After 3‐4 months of age, this development takes place more slowly, and after 8 months of life has almost subsided. In regard to the different types of intrapulmonary vessels, the elastic arteries (intrapulmonary arteries of greater size) seem to undergo an earlier development than the muscular arteries (smaller type of intrapulmonary arteries). Corresponding to the progressive vascular change during the first months of life, the hemodynamic behaviour of the pulmonary circulation changes from the high‐resistance circulation of the fetus to the low‐resistance circulation seen in the adult.
A Case of Ataxia‐Telangiectasia
Authors: BONNEVIER JOHN OLOF 
Published: January 2008

SummaryReport of a 13‐year‐old girl with progressive ataxia starting at the age of 4 years, and later also oculo‐cutaneous telangiectases. Points of divergence from the findings in ataxia‐telangiectaaia are discussed.
Toxoplasmosis in Children A Study of 83 Swedish Cases
Authors: HEDENSTRÖM GRETA , HULDT GUNNEL , LAGERCRANTZ RUTGER 
Published: January 2008

SummaryA report is given of 83 cases of toxo‐plasmosis in childhood. The series represents most cases diagnosed in Sweden during the period 1951 to 1959. The diagnostic criteria and the differential diagnosis between congenital and acquired forms of the disease are discussed. Sixty‐two patients were considered to have the congenital disease and 17 the acquired. In four patients it was impossible to determine if the disease waa congenital or acquired. The series of congenital cases comprises some with none or very few symptoms, and normal development. Acquired toxo‐plasmosis in childhood seems to give the same clinical symptoms as in adults. The most common symptom is lymphadenopathy, with or without fever. One patient had acute chorioretinitis. The disease often runs a mild course and subclinical infections are probably not uncommon in childhood.
Serial Blood‐Gas Tensions and Acid‐Base Balance during the First Hour of Life in Human Infants1
Authors: OLIVER T. K. , DEMIS J. A. , BATES G. D. 
Published: January 2008

Summary1. Serial determinations of oxygen and carbon dioxide tension, pH, CO2, content, sodium, potassium, chloride, magnesium, total protein and hematocrit beginning within 5 minutes of birth and continuing through the first hour have been performed in newborn infants.2. The data support the concept that the delivery process is invariably as‐phyxiating whether delivery is vaginal or by cesarian section. Furthermore, the major recovery occurs within 10 minutes of delivery in healthy infants.3. Arterial oxygen tension was reduced throughout the entire period. Even though the mean arterial oxyhemoglobin saturation was within normal limits at one hour of age the mean oxygen tension remained low. The interpretation of these findings is discussed.4. The administration of high oxygen concentration to the mothers for periods up to 30 minutes failed to effect the infants' PaO2.5. Evidence is presented for a right to left shunt through the ductus arteriosus when the newborn is quiet as well as crying.6. Serum potassium concentration was found to be considerably elevated in all infants. The mechanisms for this are discussed.7. Differences in acid‐base balance, serum protein concentration and packed cell volume between infants delivered vaginally and by cesarian section were noted. The explanation of these differences is not known.
Hamman‐Rich Syndrome
Authors: VESTERMARK S. 
Published: January 2008

SummaryA case of the Hamman‐Rich syndrome in a 10 year old girl is reported. The duration of the disease was 5 years. Microscopy of the lung tissue showed an increase of connective tissue and dilated capillaries in the alveolar walls. Treatment with digitalis, penicillin and diuretics were without effect. A survey of previously reported cases of this syndrome in children is given.
Goitrous Hypothyroidism Simulating Thyrotoxicosis
Authors: BLOOM VICTOR R. 
Published: January 2008

SummaryA case of goitrous hypothyroidism in a boy of 13 is described which has been successfully treated with 260 mg of thyroid daily. The defect in this case may have been due to a failure in the coupling of iodotyrosines. For four years the patient was regarded as suffering from thyrotoxicosis. This was largely due to the association of goitre with nervous manifestations, viz. excitability, tremor and moist palms. An incorrectly interpreted radio‐iodine up‐take and an apparently raised B.M.R. were thought to support the diagnosis. Indications of the true diagnosis were the family history of goitre without iodine deficiency, the retarded physical development and bone age, the normal temperature of the palms, the failure to confirm the presence of the thyroid murmur, the absence of eye signs, the discrepancy between the sleeping and the waking pulse, the failure to respond antithyroid treatment and the good response to treatment with thyroid 30 mg three times daily before the diagnosis was established. The finding of a low P.B.I. clinched the diagnosis of hypothyroidism.
CONGENITAL HEART DISEASE IN CHILDREN UNDER TWO YEARS OF AGE
Authors: Gotzsche H. , Mortensen Ole , Mosekilde E. 
Published: January 2008

SummaryDuring the years 1956–1959 inclusive 201 children under 2 years of age were referred to hospital for investigation for congenital heart disease. In 31 cases, clinical and radiographic examination revealed normal conditions; in 13 cases, continued clinical observation was indicated. Congenital heart disease was revealed in 157. Of these, 59 were not subjected to cardiac cathe‐terisation, either because they were in a very poor condition and died before the examination could be accomplished, or because their condition was so good that catheterisation, with advantage, could be postponed until the age of 3–4 years. Catheterisation was performed in 98, including 44 who were also subjected to angiocardiography. Of these 98 cases, 80 were fully clarified; the principal anomaly was disclosed in nine; the diagnosis was uncertain in seven (including three in whom catheterisation was unsuccessful); erroneous diagnoses were made in two. Death occurred in one case.
The Incidence of Head Injuries in Children
Authors: MELCHIOR JOHANNES C. 
Published: January 2008

SummaryIn 1190 children consecutively admitted to hospital, inquiries were made concerning head injury and information on the subject was obtained in 1134. In the entire material, 16 per cent replied in the affirmative and no difference in the incidence between boys and girls was observed. In patients admitted on account of neurological or severe psychiatric conditions the incidence was significantly greater, viz 28 per cent as compared with 12 per cent in the group of patients without neurological or psychiatric conditions.
Diarrhoea Caused by Deficiency of Sugar Splitting Enzymes. I
Authors: WEIJERS H. A. , KAMER J. H. VAN DE , DICKE W. K. , IJSSELING J. 
Published: January 2008

SummaryIn 3 children suffering from chronic diarrhoea in which all normally occurring causes (including coeliac disease) were ruled out, the absence (or defective functioning) of invertase and/or maltase was proved to be the cause. The diarrhoea was arrested with a monosaccharide diet, and in the case of invertase deficiency also an invertase preparation helped. The observation of Holzel et al. that a chronic diarrhoea—without excretion of lactose with the urine—also can be caused by lactase deficiency could be confirmed in another child.The criteria were the severity of the diarrhoea, the pH of the faeces and the excretion in the stools of lactic acid and the volatile lower fatty acids, gas‐chro‐matographically differentiated into formic acid, acetic acid, propionic acid, (iso)‐butyric acid, (iso)valeric acid and caproic acid.It appeared that for the diagnosis of diarrhoeas caused by carbohydrate intolerance, the lactic acid content of the faeces is especially valuable. Differentiation of the faecal flora gives no help.In no case more than traces of sugar where excreted with the urine.
Nocturnal Enuresis in Twins1
Authors: HALLGREN BERTIL , LARSSON HARRY , RUDHE ULF 
Published: January 2008

Summary1. A study by means of micturition urethro‐cystography of changes in the lower urinary tract and of the effective bladder capacity in children with nocturnal enuresis was performed on the basis of a randomly selected twin series. The material comprised 40 same‐sexed twin pairs in which at least one of the partners suffered from persistent nocturnal enuresis, i.e. 49 affected twins and 31 unaffected partners who were used as controls.2. Only minor deviations in the lower urinary tract were found. The investigation failed to show any significant relationship between such deviations and nocturnal enuresis.3. There seems to be no relationship between nocturnal enuresis and the width of the posterior urethra during micturition.4. The statistical analysis indicates that there is no difference in the effective bladder capacity between children with persistent nocturnal enuresis and other children.5. There seems to be no significant relationship between nocturnal enuresis and the occurrence of spina bifida occulta in the lower lumbar and sacral regions.
Growth Changes in the Mongoloid Head1
Authors: ROCHE A. F. , SEWARD F. S. , SUNDERLAND S. 
Published: January 2008

Summary1. The growth of the head has been investigated in 148 white Australian mongoloids.2. The maximum head breadth was within the normal range (±2 S.D.) over approximately the first year. In comparison with normal children, the increase for males was then less rapid until the age of five years, more rapid until the age of nine years, after which no continuing increase was observed. In the female group, the changes were similar except for a slight increase throughout the period studied.3. During first few months of life the maximum head length was almost normal. It then increased much more slowly than in normal children until about the age of five years after which both groups showed approximately equal rates of increase.4. The breadth‐length index increased rapidly during the first few months of life to become much higher than in normal children, but variable. Most mongoloids are brachycephalic or hyperbrachycephalic, but examples of mesocephaly and dolichocephaly were observed.5. The horizontal head circumference was normal until about the age of one year, but between this and the fifth year it increased more slowly than in normal children after which the rate of increase was approximately the same.
Venous Hypertension in the Newborn Infant Associated with Delayed Clamping of the Umbilical Cord1
Authors: TAYLOR PAUL M. , EGAN THOMAS J. , BIRCHARD EDNA L. , BRIGHT NANCY H. , WOLFSON JEROME H. 
Published: January 2008

SummaryThe mean umbilical vein pressure of 31 normal infants 5 to 89 hours of age was 92.2 mm of normal saline ± 12.8 mm (S.D.). Venous pressure was not influenced by age or birth weight.Continuous recordings of umbilical rein pressure were made on 11 infants whose umbilical cords were clamped at the time of delivery, and on 20 infants whose cords were clamped several minutes after delivery. The highest pressure recorded in the early‐clamped group was 120 mm; 2 of the 11 infants had this pressure. Seventeen of the 20 late‐clamped infants had levels of venous pressure repeatedly in excess of 120 mm during the first 30–60 minutes of life with return to the normal range at varying rates.Possible effects of a placental transfusion sufficiently large to raise venous pressure on the clinical status of the newborn infant have been discussed briefly.
Respiratory Studies in Children III. Variability of the Lung Volumes in Healthy Children
Authors: GEUBELLE F. , RUDDER P. DE 
Published: January 2008

Summary1. The day‐today physiological variations of the lung volumes were studied in healthy boys and girls. The results were compared with the ones obtained in healthy adults.2. The most striking variation was observed for the values of expiratory reserve volume which evokes the cooperation of the children and for the values of residual volume (because its calculation is a function of VER).
Preliminary Experiences with the Spitz‐Holter Ventriculo‐Caval Shunt in the Treatment of Hydrocephalus1
Authors: GROTTE G. , LUNDBERG N. G. 
Published: January 2008

SummaryA preliminary report is given of 5 cases of infantile hydrocephalus where ventriculo‐venous shunt operations using the Spitz‐Holter technique were performed. There were no postoperative deaths. In all cases pre‐ and postoperative measurements of head circumference, pneu‐mography of the ventricular system, recordings of the ventricular fluid pressure and examinations by pediatricians with regard to mental and physical development were performed. The follow‐up time ranged between 6 and 12 months. Three reoperations of the shunt were necessary in two patients, after which all valves were functioning well. In all 5 cases interruption of the rapid increase in the head circumference occurred and a low ventricular fluid pressure was found postopera‐tively. In 4 cases postoperative pneumo‐graphy suggested an incress? in brain bulk. Normal mental development was found in 4 of the cases.In addition a brief report is given of a case of increased intracranial pressure due to diffuse melanosarcomatosis of the meninges in an adult. In this case a Spitz‐Holter shunt operation reduced a preoperatively high and widely fluctuating ventricular fluid pressure to a low, even level during an observation time of 6 months. It is suggested that the Spitz‐Holter operation may be of benefit in cases of severe intracranial hypertension where removal of an intracranial tumour or an intracranial shunt operation does not give relief.
Association Between Congenital Heart Malformation and Chromosomal Variations1
Authors: BÖÖK J. A. , SANTESSON BERTA , ZETTERQVIST PER 
Published: January 2008

SummaryA family is described in which mother rind son both displayed auricular septal defects of the secundum type while father and daughter had no cardiovascular disorders. The karyotypes of these individuals were analysed by the cell culture method using biopsies from bone marrow and skin. The majority of the cells from the mother had 47 chromosomes and she was apparently trisomic [19–20]. A similar additional chromosome of group [19–20] was found in the cells derived from the son.However, he lacked one of the smallest acrocentric chromosomes. His chromosome number was 46. The father and daughter both had normal karyotypes. The significance of numerical and/or structural chromosome variation in the etiology of congenital heart malformation is discussed with regard to recent developments in clinical cytogenetics.
A Case of Ataxia‐Telangiectasia
Authors: BONNEVIER JOHN OLOF 
Published: January 2008

SummaryReport of a 13‐year‐old girl with progressive ataxia starting at the age of 4 years, and later also oculo‐cutaneous telangiectases. Points of divergence from the findings in ataxia‐telangiectasia are discussed.
Toxoplasmosis in Children: A Study of 83 Swedish Cases
Authors: HEDENSTRÖM GRETA , HULDT GUNNEL , LAGERCRANTZ RUTGER 
Published: January 2008

SummaryA report is given of 83 cases of toxo‐plasmosis in childhood. The series represents most cases diagnosed in Sweden during the period 1951 to 1959. The diagnostic criteria and the differential diagnosis between congenital and acquired forms of the disease are discussed. Sixty‐two patients were considered to have the congenital disease and 17 the acquired. In four patients it was impossible to determine if the disease was congenital or acquired. The series of congenital cases comprises some with none or very few symptoms, and normal development. Acquired toxo‐plasmosis in childhood seems to give the same clinical symptoms as in adults. The most common symptom is lymphadenopa‐thy, with or without fever. One patient had acute chorioretinitis. The disease often runs a mild course and subclinical infections are probably not uncommon in childhood.
Identification of Enteropathogenic Escherichia Coli 0111:B4 by Means of Fluorescent Antibodies
Authors: DANIELSSON DAN , LAURELL GUNNAR 
Published: January 2008

SummaryThe fluorescent antibody technique has been tested during a current epidemic of infantile diarrhoea due to E. coli 0111:B4, and has been compared with the conventional bacteriological and serological techniques. Four different modifications have been compared. After enrichment of the faecal specimens in broth the greatest number of positive specimens was obtained by the fluorescent antibody technique. It was possible by means of this technique to demonstrate the organisms in 15 infants and one adult in 35 specimens, whereas conventional culture, all modifications together, revealed them in 12 infants in 26 specimens. The time for putting a diagnosis is greatly reduced by the fluorescent method. The method's didvantages and its use in routine practice are discussed.
The Cellular Excretion in the Urine of Normal Newborn Infants
Authors: AAS KJELL 
Published: January 2008

SummaryUrine sediment counts were made in 380 specimens collected from 114 male and 27 female infants during the first 10 days after birth. In some the Addis counts were calculated. This method is considered inaccurate and erroneous in infants, however, and it is advocated that the findings should be expressed in cells per cubic millimetre. The counts found in the normal newborn infants are tabulated and the results are discussed. The range of normal sediment counts found exceeds that set for older children and adults in earlier publications.
Discussion on the Advisability of Performing Exchange Transfusion in Neonatal Jaundice of Unknown Aetiologyl
Authors: TROLLE DYRE 
Published: January 2008

SummaryIn a study of 1000 newborns jaundice of unknown aetiology was a common finding during the first week of life. In these children the bilirubin values were as follows:≥ 10 mg% in 26 %≥ 20 mg% in 6 %It is known from the literature that there is a causal relationship between severe jaundice occurring in the first week of lie and the subsequent development of athetosis. By carrying out exchange transfusion on children with a serum bili‐rubin value of ≥ 20 mg%, and comparing the number with the frequency of athetosis reported in the literature, it is shown that the following will be exchange transfused:(a) 2140 full‐term babies in order to prevent subsequent athetesis in one, but one runs the risk of 21 dying as a result of the procedure itself.(b) 92 premature infants to prevent subsequent athetosis in one, but one runs the risk of 4 dying as a result of the procedure.The limit of 20 mg% is thus not appropriate. Through systematic investigetions must be found better criteria for exchange transfusing newborn with jaundice of unknown aetiology.As opposed to this, the criteria for exchange transfusing Rhesus sensitised children are satisfactory. Admittedly it is unnecessary in the case of 44 out of every 100 children but, on the other hand, 56 will be saved from death or kernicterus, with the risk of death due to the procedure in only one case.
Successful Resuscitation of Two Immature Infants with Cardiac Arrest During Exchange Transfusion
Authors: WALLGREN GÖRAN , OKMIAN LUDVIG 
Published: January 2008

SummaryTwo instances of asystolic cardiac arrest in immature infants during exchange transfusions are reported. In both cases the collapse came as an unexpected complication at the end of the transfusion. When extrathoracic manipulations to restore spontaneous heart action had been unsuccessfully performed for one and two minutes respectively, thoracotomy was performed and cardiac massage instituted. Spontaneous heart action started in one case shortly after manual compressions had been instituted and in the other case after 10 minutes of massage and the administration of calcium and adrenalin. The recovery of the infants was completely uneventful and no signs of CNS damage could be detected at the age of two and three months respectively. Methods to institute cardiac action are discussed and it is stressed that thoracotomy and cardiac massage are comparatively easy procedures not contraindicated by the small size of these infants. The use of continuous ECG control during exchange transfusion is recommended.
Goitrous Hypothyroidism Simulating Thyrotoxicosis
Authors: BLOOM VICTOR R. 
Published: January 2008

SummaryA case of goitrous hypothyroidism in a boy of 13 is described which has been successfully treated with 260 mg of thyroid daily. The defect in this case may have been due to a failure in the coupling of iodotyrosines. For four years the patient was regarded as suffering from thyrotoxi‐cosis. This was largely due to the association of goitre with nervous manifestations, viz. excitability, tremor and moist palms. An incorrectly interpreted radio‐iodine uptake and an apparently raised B.M.R. were thought to support the diagnosis. Indications of the true diagnosis were the family history of goitre without iodine deficiency, the retarded physical development and bone age, the normal temperature of the palms, the failure to confirm the presence of the thyroid murmur, the absence of eye signs, the discrepancy between the sleeping and the waking pulse, the failure to respond antithyroid treatment and the good response to treatment with thyroid 30 mg three times daily before the diagnosis was established. The finding of a low P.B.I. clinched the diagnosis of hypothyroidism.