bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paraplegia in Childhood Malignant Disease
Authors: KEIDAN S. E. 
Published: January 2008

Summary1. Five cases of paraplegia due to secondary malignant disease in children are described.2. There was one case of generalized lymphosarcoma; one case of acute leukaemia who had recurrent neurological complications, paraplegia developing terminally; one case of metastatic Wilm's tumour; one case of Ewing's sarcoma; and one case in which the histological diagnosis was not confirmed, but was probably lymphosarcoma.3. Tumours of the spinal cord and appendages are uncommon in children and are more often primary than secondary.4. Spread to the spinal canal may be by direct extension from the abdomen or vertebrae or by blood‐borne metastases.5. The management of paraplegia includes care of the bladder, the bowels and of the skin.
Clinical Considerations, EEG and EMG Studies, in Subacute Sclerosing Leucoencephalitis
Authors: KYRIAKIDOU V. 
Published: January 2008

SummaryClinical considerations, as well as EEG and EMG studies from 8 patients, 7 males and one female, 5 to 11 years old, with SSLE are reported.Mental deterioration, involuntary rythmic movements coinciding with periodic EEG complexes, were constant findings. In all cases the EEG showed periodic discharges, at intervals of 5 to 20 seconds, on a more or less disorganized background activity. The EMG study revealed that the action potentials of the involuntary movements occurred at about the beginning of the periodic EEG changes.In deep sleep spontaneous jerking ceased while the EEG complexes persisted.Some activation of the rythmic discharges in the EEG appeared to occur during sleep and photic stimulation.
L'hypercalciurie idiopathique avec nanism e et atteinte rénale chez l'enfant
Authors: ROYER PIERRE 
Published: January 2008

RésuméLes observations d'un syndrome comportant un nanisme, une ostóorose, un trouble de concentration des urines, une protéinuric de type tubulaire et une hypercalciurie sont analysées.Le rachitisme, la néphrocalcinose et la lithiase urinaire peuvent compléter le tableau. Les biopsies rénales montrent une image normale ou une néphrite inter‐stitielle en foyer.La physiologie pathologique est obscure. Deux thérapeutiques peuvent supprimer l'hypercalciurie tout en améliorant le bilan calcique: l'hydrochlorothiazide et surtout le régime pauvre en chlorure de sodium. Les premiers résultats de nos régimes pauvres en chlorure de sodium, en ce qui concerne en particulier la reprise de la croissance en taille, semblent trés encou‐rageants.
Some Genetic Considerations in Cystic Fibrosis. A Study of Nail and Sweat Sodium in Two Sibships1
Authors: SHWACHMAN HARRY , KOPITO LOUIS 
Published: January 2008

SummaryThe rationale for studying tissue that stores sodium as it occurs in nails is presented. The results of our studies on the concentration of sodium in 242 patients with C.F., 63 healthy children, 171 parents of children with C.F., 51 healthy adults and 184 siblings of patients with cystic fibrosis are presented. The elevated nail sodium concentration was detected in over 95 % of the patients with C.F. and in no patient with C.F. was the value less than 80 mEq/Kg. Seven out of 8 children born to parents, one of whom had C.F., showed elevated nail sodium. By definition these healthy children are the only presently recognized heterozygotes in infancy. The sibling group showed a wide range of values suggesting the possibility of indicating the heterozygote.The nail and sweat sodium results in three generations of two selected sibships is shown in graphic form. Variations are noted which indicate that this type of study does not select the heterozygote for the gene of cystic fibrosis.The usefulness of the measurement of nail sodium is stated. It is hoped that this report will stimulate others to seek other methods for detecting the heterozygote.
A PATIENT WITH HEREDITARY GALACTOSEMIA STUDIED WITH A SCREENING METHOD FOR GALACTOSE IN URINE
Authors: DAHLQVIST A. , JAGENBURG R. , MARK A. 
Published: January 2008

SummaryA case of hereditary galactosemia in a newborn infant is reported. Dietary treatment was started on the 9th day of life, which caused a dramatical improvement in the patient's condition. Diagnosis was confirmed by assay of galactose in urine and blood, and finally by demonstration of the enzyme deficiency in the red blood cells of the patient. Both parents had low values for galactose‐1‐phosphate uridyl transferase activity in red blood cells, in agreement with the fact that they are heterozygotes for hereditary galactosemia.A recently described test paper for galactose in urine was used both in the diagnosis of the disease and for the control of the suitability of the patient's diet.In addition to galactose, the urine also contained large anounts of galactitol. On the introduction of galactose‐free diet, galactitol dis‐appeared from the urine more slowly than did galactose.There was an increased concentration of amino acids in the blood and in the urine, as a result of liver damage and also decreased tubular reabsorption. Also the aminoaciduria and the increased blood amino acid concentration disappeared on galactose‐free diet.
AMINO ACID PATTERNS IN PLASMA AND ERYTHROCYTES IN PROTEIN MALNUTRITION
Authors: BJORNESJÖ K. B. , JAGENBURG R. , MELLANDER O. 
Published: January 2008

SummaryThe reliability of the paper chromatographic technique developed by Whitehead for evaluation of the amino pattern of serum and plasma has been studied by comparison with the results obtained by quantitative column chromatography. The results obtained with the two techniques show a satisfactory agreement.The screening technique has been used in a field study of protein malnutrition among Ethiopian pre‐school children in different areas of the country. Changes of the amino acid pattern of blood serum of the type seen in protein malnutrition have been found in 27‐52 % of the children. The highest figure of amino acid imbalance was obtained for an area, where ensete (false banana) containing only about 1 % of protein is the main staple food.The erythrocyte/plasma distribution ratios of amino acids have been determined in a group of children with advanced protein malnutrition. The erythrocyte values of amino acids are often increased in spite of low plasma values resulting in high erythrocyte/plasma distribution ratios in most of the protein malnutrition cases studied.
HAIR AMINO ACIDS IN CYSTINOSIS, HOMOCYSTINURIA, FÖLLING'S DISEASE AND TYROSINOSIS
Authors: VELLAN E. J. , GJESSFNG L. R. , SEIP M. 
Published: January 2008

SummaryThe amino acid content of the hair was determined in patients with cystinosis, homocystin‐uria, phenylketonuria and tyrosinosis, and in two normal controls. No significant increases of cystine, homocystine, methionine, phenylalanine or tyrosine were found. Analysis of hair amino acids therefore does not seem to give any information about the diagnosis in these disorders.
INCREASING METABOLIC ACIDOSIS FOLLOWING FRUCTOSE INFUSION IN TWO CHILDREN
Authors: ANDERSSON GILLIS , BROHULT JOHAN , STERNER GÖRAN 
Published: January 2008

SummaryTwo children with metabolic acidosis received fructose infusion in accordance with the standard treatment at the time. During the infusion, both pH and bicarbonate decreased in spite of the administration of large doses of bicarbonate. When the fructose infusion was reduced or withdrawn, pH and bicarbonate increased. However, the extreme acidosis (pH 6.6) during fructose infusion in one of the children had probably caused irreversible cell injuries which might have been the main reason for the death in this patient. The other child survived probably because the fructose infusion was interrupted in time. We accordingly recommend that fructose infusions should not be given to patients in whom there is a risk of acidosis and tissue hypoxia.
ANTIBODY DEFICIENCY SYNDROME AND AUTOIMMUNE HAEMOLYTIC ANAEMIA IN A BOY WITH ISOLATED IgM DEFICIENCY DYSIMMUNOGLOBULINAEMIA TYPE 5
Authors: STOELINGA G. B. A. , van MUNSTER P. J. J. , SLOOFF J. P. 
Published: January 2008

SummaryThis paper describes a boy who suffered from severe recurrent infections from the first year of life. A brother with similar symptoms died from meningococcal meningitis. Virtually no IgM was demonstrable in the patient's serum, and it is suggested that the antibody deficiency syndrome in this case was based on a familial congenital disturbance in IgM synthesis. A study of antibody formation disclosed that disturbances existed in the formation of antibodies assumed to be contained in IgM; other antibodies were produced in adequate amounts. The significance of these findings is discussed in some detail. The boy subsequently developed autoimmune haemolytic anaemia. The question whether this was caused by the IgM deficiency or whether the immunological imbalance was based on a general disorder must remain unanswered.
HAEMOGLOBIN, ERYTHROCYTES AND SERUM IRON VALUES IN NORMAL CHILDREN 3‐6 YEARS OF AGE
Authors: MARNER TORBEN 
Published: January 2008

SummaryBlood values including serum iron and transferrin were measured in 147 healthy children 3‐6 years of age. An iron supplement given to 122 children showed no significant changes in the mean values of the total material in haemoglobin (13.7‐13.7 g/100 ml), V.P.R.C. (40‐40 ml/100 ml), R.B.C. (4.93‐4.67 mill/μl), MCHC (34.1‐34.5 g/100 ml), serum iron (122 ‐106 μg/100 ml) and TIBC (410‐397 μg/ 100 ml). These values are therefore considered as normal values for the age group in question. No iron deficiency with or without anaemia was observed.
URINARY C,19 AND C21 STEROID PATTERNS IN ISOSEXUAL PRECOCIOUS PUBERTY DURING LONG‐TERM TREATMENT WITH GESTAGENS
Authors: TELLER W. M. , MÜRSET G. , SCHELLONG G. 
Published: January 2008

SummaryFive patients (three boys and two girls, aged 1 8/12 to 6 years) with idiopathic precocious puberty and one patient (boy, 3 6/12 years old) with sexual precocity due to a pinealoma were treated with gestagens, 6α‐methyl‐17α‐acetoxy‐progesterone (Depo‐Provera®) or 6‐chloro‐6‐dehy dro‐17α‐acetoxyprogesterone (Chlormadi‐none acetate; Gestafortin ®), for periods from 4 to 21 months. Before and during treatment the urinary excretion of three 11‐deoxy‐C19 four 11‐oxy‐C19) and three C21 steroids was determined by a combined column and paper chromatographic procedure with colorimetric end points.In accordance with the failure of suppression of bone and height ages, the steroid excretion patterns during treatment with Depo‐Provera ® remained essentially unchanged. Even after 21 months of therapy the ratios of 5α/5β of 11‐deoxy C19 steroids as well as the percentages of allo‐tetrahydrocortisol were elevated above normal ranges. It is concluded that in idiopathic precocious puberty the administration of gestagens fails to inhibit efficiently andJor persistently the secretion of gonadotrophins. They continue to be secreted in amounts sufficient to stimulate endogenous androgen production.
FAMILIAL HYPOMAGNESEMIA
Authors: STRØMME J. H. , NESBAKKEN R. , NORMANN TRINE , SKJØRTEN F. , SKYBERG D. , JOHANNESSEN B. 
Published: January 2008

SummaryTwo brothers are reported, who at the ages of two and three weeks respectively, demonstrated generalized tetanic convulsions. In both cases, hypocalcemia and hypophosphatemia were found. The serum magnesium of the elder brother was not determined, whereas the younger was found to have severe hypomag‐nesemia. Calcium administration had no effect on the condition of the elder one, who died at the age of 50 days. In the younger, magnesium alone led to a normalization of the clinical as well as the biochemical picture. On daily oral magnesium supplementation, the child is healthy and is developing normally.Data are presented which indicate that the hypomagnesemia is due to a selective defect in the absorption of this ion. The low serum calcium appears to be secondary to a magnesium deficiency.Morphological findings in autopsy and biopsy material are presented, demonstrating histological and electron microscopical changes most marked in the liver.On the basis of a familial occurrence of this disease, a hereditary genesis is considered likely.
ON THE DIAGNOSIS OF SYMPTOMATIC NEONATAL HYPOGLYCEMIA
Authors: GENTZ JOHAN , PERSSON BENGT , ZETTERSTRÖM OLF 
Published: January 2008

SummaryEighteen newborn infants, 11 males and 7 females, with hypoglycemia, i.e. with blood glucose concentration of less than 20 mg per 100 ml were studied. Twelve infants were diagnosed as cases of symptomatic and 6 as cases of asymptomatic hypoglycemia. All infants with asymptomatic hypoglycemia were small for gestational age, whereas the symptomatic group was heterogenous from a clinical point of view.The disappearance rate of intravenously administered glucose (kG‐value) was studied before any treatment was started. The kG‐values were high in all infants with symptomatic hypoglycemia, in 10 exceeding +2 s.D. for normal infants of the same age. The symptomatic infants were treated with hydrocortisone or human growth hormone in addition to continuous glucose infusion. After the institution of therapy there was a rapid normalization of the kG‐values. The 6 infants with asymptomatic hypoglycemia had normal kG;‐values. They were only given a high caloric supply by means of breast milk. In two infants with symptomatic hypoglycemia repeated simultaneous determinations of kG‐values and the plasma concentration of free fatty acids revealed no relationship.At follow‐up examinations at ages from 5 months to 2 years, 2 out of the 12 infants in the symptomatic group were found to have severe cerebral damage. All infants with asymptomatic hypoglycemia were completely normal.The findings seem to have some clinical applications. Determination of the disappearance rate of intravenously administered glucose, primarily given as a diagnostic test, may differentiate between symptomatic and asymptomatic hypoglycemia. If in a doubtful case the kG‐value is normal, the likely diagnosis is asymptomatic hypoglycemia. In cases of symptomatic neonatal hypoglycemia repeated determinations of the kG‐value may provide a sensitive guide as to the effect of treatment.
THE ACID‐BASE AND ELECTROLYTE PATTERN IN THE ERYTHROBLASTOTIC INFANT AND ITS RELATIONSHIP TO VARIOUS PARAMETERS DURING EXCHANGE TRANSFUSION
Authors: MAGUIRE HERBERT , KRETZSCHMAR GÜNTER , WALLGREN GÖRAN 
Published: January 2008

SummaryThe effect of exchange transfusion in the electrolyte and acid‐base balance has been studied in 37 newborn infants undergoing the procedure because of hyperbilirubinemia. Particular interest was focused on possible relationships between induced changes and various pertinent parameters such as infant and donor blood characteristics and rate and volume of the exchange. A statistically highly significant decrease in pH and plasma bicarbonate was noted together with a decrease of the potassium level. Changes in other electrolytes were inconsistent. There was a highly significant correlation between rate of exchange and acid‐base disturbance as well as between induced potassium decrease and the total volume of the procedure. There was no demonstrable increase of the susceptibility to induced changes among the low‐weight infants. A recovery period of 20 minutes was usually sufficient to allow for the control of the metabolic derangement and in some instances an alkalotic overshoot was encountered as related to the preoperative control value. The potassium level continued to fall during the recovery period.The technical aspects of the procedure are discussed against the reported findings.
PAI-1 gene 4G/5G polymorphism, cytokine levels and their relations with metabolic parameters in obese children
Authors: Yuce Muammer , Yazici Ayse , Verdi Hasibe , Ataç F. Belgin , Kinik Sibel , Özbek Namik 
Published: January 2008

SummaryObesity is associated with the changes of plasminogen activator inhibitor-1 (PAI-1), tumor necrosis factor-alpha (TNFα) and transforming growth factor beta (TGFβ) levels. However, the precise effect of the 4G allele on obesity is still contradictory. Here, we aimed to elucidate the role of the 4G/5G polymorphism of the PAI-1 gene on the PAI-1 level and determine the associations between cytokines, glucose and lipid metabolism parameters in obese children. Thirty-nine obese children (mean age 11.4 ± 3.3 years) and 38 age-matched healthy control group (mean age 10.3 ± 3.5 years) were included in the study. In all cases, serum levels of glucose, lipid and insulin were measured, homeostasis model assessment of insulin resistance (HOMAIR) was calculated, and 4G/5G polymorphism of PAI-1 gene, plasma PAI-1 level and serum TNFα and TGFβ levels were studied. The mean relative body mass index (BMI) and HOMA-IR score, VLDL,TG, insulin, PAI-1,TNFα levels were higher, and HDL and TGFβ levels were lower in the obese group. The frequency of the 4G/4G genotype was considerably higher in obese children than in controls. Also, a positive correlation was found between PAI-1 and TNFα levels, and relative BMI, HOMA-IR score, insulin,TG, HDL levels. TGFβ was inversely correlated only with relative BMI. There was no correlation among three cytokines. In conclusion, childhood obesity contributes to higher PAI-1 andTNFα and lowerTGFβ levels. Especially PAI-1 andTNFα accompany insulin resistance and dyslipidemia.
Increased thrombin generation after acute versus chronic coronary disease as assessed by the thrombin generation test
Authors: Orbe Josune , Zudaire Maite , Serrano Rosario , Coma-Canella Isabel , de Sizarrondo Sara , Rodríguez Jose A. , Páramo Jose A. 
Published: January 2008

SummaryAtherosclerosis is the most common pathophysiologic substrate of coronary artery disease (CAD).Whereas plaque progression and arterial remodeling are critical components in chronic CAD, intracoronary thrombosis over plaque disruption is causally related to acute CAD. It was the objective of this study to investigate the differences between prior acute CAD and chronic CAD by a simple global coagulation assay measuring thrombin generation. A cross-sectional study involving 15 healthy controls, 35 patients with chronic stable CAD, and 60 patients after an episode of acute myocardial infarction (AMI) was performed. Thrombin generation was measured between three and 11 months after the initial diagnosis (mean 6 months) by a commercially available fluorogenic assay (Technothrombin TGA). In each patient the lag phase, velocity index and peak thrombin were obtained from the thrombogram profile. Traditional cardiovascular risk factors were recorded, and the inflammatory markers, fibrinogen and hs-C-reactive protein were determined. Compared with stable CAD patients, showing normal thrombograms, those with previous AMI showed earlier lag phase (p<0.05) and significant increase of both the velocity index (p<0.001) and peak thrombin (p<0.05), indicating faster and higher thrombin generation in the AMI group. Differences in thrombin generation between stable and acute CAD patients remained significant (p<0.001) after adjusting for conventional CAD risk factors (age, gender, diabetes, hypertension, smoking, and hypercholesterolemia). In conclusion, patients with a previous history of acute CAD showed earlier, faster and higher thrombin generation than stable chronic CAD patients. The thrombin generation test may be of clinical value to monitor hypercoagulable/ vulnerable blood and/or guide therapy in CAD.
The antigenic binding sites of autoantibodies to factor XII in patients with recurrent pregnancy losses
Authors: Fujita Yoshimi , Matsubayashi Hidehiko , Izumi Shun-ichiro , Mikami Mikio , Inomo Akifumi , Sugi Toshitaka 
Published: January 2008

SummaryRecently, numerous studies have suggested an association between factor XII (FXII) deficiency and recurrent pregnancy losses, and between autoantibodies to FXII and recurrent pregnancy losses. Autoantibodies to FXII rather than FXII deficiency may be a risk factor for recurrent pregnancy losses. To know the pathogenesis of autoantibodies to FXII, epitope mapping study was done. Seventeen anti-FXII antibody positive recurrent pregnancy loss patients were chosen for this study. We used synthetic peptides in inhibition and direct binding studies to identify the antigenic binding site of autoantibodies to FXII. Among plasmas from 17 recurrent pregnancy loss patients who were positive for autoantibodies to FXII, 13 patients (76.5%) recognized amino acids 1–30, the amino-terminal heavy chain region that is known as factor XII binding site to platelet glycoprotein Ibα.
Endothelial cell apoptosis induced by bacteria-activated platelets requires caspase-8 and -9 and generation of reactive oxygen species
Authors: Kuckleburg Christopher J. , Tiwari Raksha , Czuprynski Charles J. 
Published: January 2008

SummaryA common feature of severe sepsis is vascular inflammation and damage to the endothelium. Because platelets can be directly activated by bacteria and endotoxin, these cells may play an important role in determining the outcome of sepsis. For example, inhibiting platelet interactions with the endothelium has been shown to attenuate endothelial cell damage and improve survival during sepsis. Although not entirely understood, the interactions between bacteria-activated platelets and the endothelium may play a key role in the vascular pathology of bacterial sepsis. Haemophilus somnus is a bacterial pathogen that causes diffuse vascular inflammation and endothelial damage. In some cases H.somnus infection results in an acute and fatal form of vasculitis in the cerebral microvasculature known as thrombotic meningoencephalitis (TME). In this study, we have characterized the mechanisms involved in endothelial cell apoptosis induced
by activated platelets. We observed that direct contact between H.somnus-activated platelets and endothelial cells induced significant levels of apoptosis; however, Fas receptor activation on bovine endothelial cells was not able to induce apoptosis unless protein synthesis was disrupted. Endothelial cell apoptosis by H.somnus-activated platelets required activation of both caspase-8 and caspase-9, as inhibitors of either caspase inhibited apoptosis. Furthermore, activated platelets induced endothelial cell production of reactive oxygen species (ROS) and disrupting ROS activity in endothelial cells significantly inhibited apoptosis. These findings suggest that bacterial activation of platelets may contribute to endothelial cell dysfunction observed during sepsis, specifically by inducing endothelial cell apoptosis.