bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromatographic Pattern of Serum and Urinary Amino Acids in Cretinism
Authors: GABR MAMDOOH , EL‐GAWAD ZENAB ABD , EL‐BEHAIRY FOUAD 
Published: January 2008

Summary and ConclusionThe amino‐acid chromatographic patterns of the serum and urine in 23 cases of congenital hypothyroidism were studied semi‐quantitatively. An increase in serum amino‐acids was present in all cases affecting mainly glutamic acid, glycine, alanine and valine. The increase was less evident in milder cases. Urinary amino‐acids were within the normal range. Adequate thyroid replacement therapy in 13 cases resulted in lowering of the hyperamino‐acidemia to the normal range in 11 cases. The possible actions of thyroid hormone on the plasma amino‐acid level are presented and the results are discussed.
Congenital Pulmonary Lymphangiectasis
Authors: EKELUND H. , PALMSTIERNA S. , ÖSTBERG G. 
Published: January 2008

SummaryA typical case of congenital pulmonary lymphangiectasia is described and compared with earlier published cases. It is a rare malformation, only about 25 cases hitherto being described, The clinical picture in liveborn infants is characterized by severe respiratory distress appearing a short time after a delivery.
Zytologische Untersuchungen zur Frage des Zellmosaiks bei heterozygoten Frauen mit Glukose‐6‐Phosphatdehydrogenase‐Mangel
Authors: BETKE Von K. , KLEIHAUER E. , KNOTEK Z. 
Published: January 2008

ZusammenfassungBei der Durchführung des Brewer‐Testes mit Blut von heterozygoten Frauen mit G‐6‐PD‐Mangel nahm im zytologischen Praparat die Zahl der methamoglobin‐haltigen Zellen im Ablauf der Zeit konti‐nuierlich ab, die der oxyhämoglobinhaltigen Zellen zu. Die Befunde sind nicht geeignet, die Existenz zweier definierter Zellpopulationen zu beweisen. In gleicher Weise verhielten sich jedoch künstliche Mischungen von Normalblut mit Blut hemizygoter Trager der Anomalie. Offen‐sichtlich leisten die normalen Erythro‐zyten den defekten Erythrozyten eine metabolische Hilfe. Diese wird wahrschein‐lich durch Leukomethylenblau vermittelt. Wenn Nilblausulfat statt Methylenblau verwendet wurde, war eine Existenz zweier Zellpopulationen im Blut heterozygoter Erauen und in kiinstlichen Mischungen besser erkennbar. Unter standardisierten Bedingungen ist die Kombination des Brewer‐Testes (mit Nilblausulfat durch‐geführt) mit der zytologischen Auswertung eines nach 4 Stunden hergestellten Aus‐striches eine wertvolle Hilfe fur die Er‐kennung von Heterozygoten.SummaryDuring the course of the Brewer test in blood of heterozygous females with G‐6‐PD‐deficiency the count of methaemoglobin containing cells decreased with time, while the count of oxyhaemoglobin containing cells increased. There was, therefore, no clear‐cut evidence for the existence of two definite cell populations as postulated by the Lyon‐hypothesis [9]. However, the same findings were seen in artificial mixtures of normal blood with blood of hemizygous males. Apparently the normal cells give metabolic aid to the deficient cells. This is probably mediated by leukomethylene blue. With Nile blue sulfate instead of methylene blue the evidence for the existence of two cell populations was somewhat better. Under standardized conditions the combination of the Brewer test (done with Nile blue sulfate) with the cytological evaluation of a smear prepared after 4 hours is a valuable diagnostic aid for the detection of heterozygotes.
Body Temperature of the Newborn Infant in Relation to Placental Transfusion1
Authors: OH WILLIAM , LIND JOHN 
Published: January 2008

SummaryTemperatures of the rectum, skin areas of the heels, palms, earlobes and epigastrium were serially measured in 36 normal full‐term newborn infants from birth through the 5th day of life. The umbilical cords of 14 infants were clamped immediately after birth, while in 22 infants the cords were tied after arterial pulsation had stopped. At birth the mean skin temperatures of heels and palms dropped precipitously from 35.4oC to 29.8oC during the first 10 minutes of life. The heel and palm temperatures showed a further decline during the first 4 hours of age, while the earlobe and epigastrium temperatures gradually increased at the same time.The early clamped infants had a significantly lower skin temperature at the palms, heels and to a lesser extent at the earlobes. This is considered as indirect evidence of lower peripheral skin blood flow in this group of infants. No difference was observed in the cutaneous epigastric and rectal temperatures between the two groups.
Biochemical Genetics in Medicine1
Authors: MOTULSKY ARNO G. 
Published: January 2008

Summary1. The history of human biochemical genetics is reviewed with special references to Garrod's and Pauling's contributions.2. Recent knowledge on the correlation of gene structure and protein structure is reviewed.3. The influence of various mutations on the hemoglobin molecule is discussed. Heterozygote structural mutations affecting the critical active site of the hemoglobin molecule may lead to hemolytic anemia, drug sensitivity, polycythemia and methemoglobinemia. Other mutants are usually harmless. Another class of hemoglobin mutants–the thalassemias–cause diminished hemoglobin chain production and may lead to severe anemia in the ho‐mozygote state.4. Many different glucose‐6‐phosphate dehydrogenase mutations have been discovered. Some are rare mutants, others are common and, as the sickle trait, owe their frequency to a selective advantage vis‐a‐vis falciparum malaria. The African type of G6PD mutant is caused by a structural mutation which causes more rapid degradation of the enzyme during red cell ageing. The chemically most unstable mutants are associated with chronic hemolytic disease.5. Mutations of controlling elements as contrasted to structural mutations have not yet been proven in man, but hereditary persistence of fetal hemoglobin and oroticaciduria can best be explained by control mutations.6. Differences in drug response and drug reactions may be caused by genetically determined biochemical variability. G6PD deficiency may cause drug hemolytic anemia. Pseudocholinesterase alterations may cause sensitivity or resistance to succinylcholine and differences in the acetylation of some drugs are genetically controlled.7. Biochemical screening is feasible for a variety of disorders and is strongly indicated since certain forms of mental retardation may be prevented by early treatment, e.g., phenylketonuria.8. Carrier detection of many heterozygote traits is possible. Overlap in enzyme activity between heterozygotes and normals may be caused by the existence of isoalleles in the normal population. Screening of heterozygotes of X‐linked diseases (muscular dystrophy and hemophilia) is practically more important in family counseling than screening for heterozygotes of autosomal diseases.
Familial Leukaemia — Three Cases of Acute Leukaemia in Four Siblings
Authors: LUNDMARK K. M. , THILÉN ASTRID , VAHLQUIST B. 
Published: January 2008

SummaryAn instance of familial leukaemia is described where 3 children out of 4 died of acute lymphocytic leukaemia at the ages of 2–4 years. Two of the siblings were twins, probably binovular. Genetic mechanisms in the aetiology of acute leukaemia are discussed and the pertinent literature is briefly reviewed.
Hemangioma of the Spleen with Thrombocytopenia and Fibrinogen Deficiency
Authors: ZERVOS N. , VLACHOS J. , KARPATHIOS T. , MANTAS J. 
Published: January 2008

SummaryA case of giant splenic hemangioma associated with thrombocytopenia and fibrinogen deficiency is described. The case presented clinically with severe bleeding and splenomegaly. Treatment with prednisone and transfusions of fresh blood and fibrinogen, was unsuccessful in controlling the hemorrhage. Following splenectomy, the patient improved considerably, the bleeding tendency disappeared and the blood findings became normal. The relationship between giant heman‐giomata, either visceral or cutaneous, and the disturbed mechanisms of blood clotting is discussed.
TIME STUDIES ON FREE AMINO ACID LEVELS OF VENOUS PLASMA DURING THE NEONATAL PERIOD
Authors: LINDBLAD B. S. , BALDESTEN A. 
Published: January 2008

SummaryA simplified method of ion‐exchange chromatography of essential amino acids on small amounts of human plasma is described. The precision of the instrument and the reproducibility was to be compared with those achieved with automatic amino acid analyzers. The method has been applied in a survey of venous plasma free amino acid levels and urinary concentrations during the neonatal period.A considerable general decrease of the free amino acid levels was seen already during the first postnatal day. This was most marked in the branch‐chained amino acids, where levels that were low for infants were seen already after the first hours of starvation. The well known high urinary excretion of amino acid nitrogen was found to be due to a high excretion of a limited number of amino acids.
MEASLES VACCINATION
Authors: NORRBY ERLING , LAGERCRANTZ RUTGER , GARD SVEN 
Published: January 2008

SummaryChildren immunized with 4 doses of formalin‐killed (FK) whole virus vaccine containing adjuvant and aqueous, purified hemagglutinin prepared from Tween‐ether (TE) treated material in different combinations have been followed serologically and clinically during a period of 3 to 4 years after the last dose of vaccine. The average decline in HI antibody titers was about 10‐fold during this period of time, except in children who had received 4 doses of TE vaccine. The latter group displayed about a 40‐fold decrease in titers. Four out of 10 children exposed to cases of regular measles displayed clinical symptoms of varying degrees of severity. Two more children responded with a rise in HI antibody titer only. All these reactions occurred in children with a pre‐exposure HI serum titer of 160 or higher. A case of pneumonia was encountered in connection with exposure to wild virus in a child who had received only 2 doses of FK vaccine.
CHRONIC AUTOIMMUNE HEMOLYTIC ANEMIA IN CHILDHOOD WITH COLD ANTIBODIES, APLASTIC CRISES, AND FAMILIAL OCCURRENCE
Authors: SEIP M. , HARBOE M. , CYVIN K. 
Published: January 2008

SummaryA report is given of two sisters who developed chronic autoimmune hemolytic anemia in their fourth and twelfth years of age, respectively. The serological findings were different in the two cases. In patient 1, a typical cold agglutinin with a titer of 256 at 4oC was found in the serum, and only complement on the red cells by the direct Coombs' test. The serum hemolysed trypsinized red cells at 37oC. Her sister had warm type hemolytic anemia with a γG antibody on her red cells. In case 1, the clinical course has been severe, with several exacerbations of the hemolytic process accompanied by erythroid aplasia in the bone marrow.Whereas acute autoimmune hemolytic anemia with cold antibodies is not rare in children, and may be elicited by mycoplasma or viral infections, chronic autoimmune hemolytic anemia is rarely seen before adulthood. The typical, chronic cold hemagglutinin disease with hemoglobinuria and Raynaud's phenomena has not been described in childhood, and was not present in our case. It is suggested that the disease in the case presented may have started as the result of an acute infection, and that for one reason or another (genetic predisposition?) the process has not shown the usual self‐limited course.Although a familial–probably genetic– predisposition exists for several autoimmune diseases, familial occurrence of autoimmune hemolytic anemia has rarely been observed. The authors have found nine convincing reports in the literature, and in only one of the reported families did the hemolytic anemia develop in childhood. In families predisposed to autoimmune diseases, a variety of γ‐globulin disturbances and autoimmune disorders are often found. The presence of a more fundamental, genetic aberration of the immune apparatus, preventing a normal immune homeostasis, may therefore be postulated.A brief comment is made on the possible mechanism of the repeated periods of erythroid aplasia in the patient with cold antibodies. It is suggested that a second antibody, causing hemolysis of trypsinized red cells at 37oC may be of importance by damaging the red cell precursors. The presence of this antibody may also possibly explain why the severity of the clinical picture of the patient did not seem to be related to exposure to cold.
THE EFFECT OF ANTIMICROBIAL AGENTS ON THE BINDING OF BILIRUBIN BY ALBUMIN
Authors: MALAKA‐ZAFIRIU KETI , STRATES BASIL S. 
Published: January 2008

SummaryThe effect of antibiotics, on the albumin binding capacity was studied by adding various concentrations of each drug in a standard solution of crystalline human serum albumin 4 g/ 100 ml, according to method of Porter & Waters (8). We found significant depression (above 25 %) of binding capacity of the albumin after addition of the following drugs in concentrations reaching therapeutical blood levels: Novobiocin and Sulfonamides (Elkosin, Sulfexin, Gantrisin).Moderate depression (11‐25 %) was observed with the following drugs: Oxacillin, Ce‐phalothin and Rifamycin.Little or no decrease of the albumin binding capacity was found after the addition of the following drugs: Penicillin, Penetracin, Methi‐cillin (Staphcillin, Celbenin) Ampicillin, (Pen‐trexyl, Penbritin), Cloxacillin, Lincomycin, Cephaloridin, Streptomycin, Colimycin, Chloramphenicol succinate, Erythromycin, Tetra‐cyclin hydrochloride, Pyrolidynomethyl‐tetra‐cyclin and Oxytetracyclin.
BALANCE OF NET ACID IN GROWING INFANTS
Authors: KILDEBERG P. , ENGEL K. , WINTERS R. W. 
Published: January 2008

SummaryA method for the quantitative assessment of the balance of net acid (NAB) in growing infants with a changing body composition is described. Results of seventy measurements of the daily NAB in healthy growing premature infants ingesting modified cow's milk formulae are reported. The relative contributions of the various determinants of the daily net acid input in the infant differ from those in the normal adult, and growth appears to be associated with negative net acid balances due to base deposition in skeleton and new body water. The daily load of “undetermined anion” (UA) in the diet was found to be the largest single component of the NAB. Moreover, a strong correlation between the rates of dietary UA intake and fecal UA excretion suggested an active regulation of the transintestinal acid‐base balance. A model for such regulation, based upon available evidence concerning the transport of acid and base across the gastrointestinal membrane, is proposed and briefly discussed.
IDENTICAL SYNDROMES OF CEREBRAL PALSY IN THE SAME FAMILY
Authors: GUSTAVSON K.‐H. , BERG B. HAG , SANNER G. 
Published: January 2008

SummaryFamilial cases of cerebral palsy were traced all over Sweden. Fortythree families were collected, in 30 of which the patients were siblings. The families were divided into three groups: (1) 16 families with cases of identical syndromes and a history of normal pregnancy, delivery and perinatal period; (2) 3 families with cases of identical syndromes but an abnormal perinatal period; (3) 24 families with non‐identical syndromes.Within the first group, which is of main genetic importance, 10 families were found with 2‐3 siblings affected with congenital non‐progressive ataxia and mental retardation, the mode of inheritance with all probability being autosomal recessive. Three families showed ataxic diplegia, two of them only in siblings, the third with affected members of both sexes represented in three generations. Surprisingly enough, pure spastic diplegia was only revealed in one family, viz. a grandfather and his grandson. Spastic tetraplegia was found in two mentally retarded siblings in an otherwise healthy sibship of 11 members. True microcephaly combined with a dystonic tetraplegic cerebral palsy was seen in one family and was thought to have an autosomal recessive inheritance as in similar cases reported in the literature.Chromosome studies and laboratory screening tests revealed no abnormalities indicating particular aetiological mechanisms.
ENZYMATIC STUDIES IN A CASE OF HEREDITARY TYROSINEMIA WITH HEPATOMA
Authors: GENTZ J. , HEINRICH J. , LINDBLAD B. , LINDSTEDT S. , ZETTERSTRÖM R. 
Published: January 2008

SummaryThe activity of δ‐aminolevulinic acid synthetase has been measured in liver and hepatoma tissue from a case of hereditary tyrosinemia with an increased excretion of δ‐aminolevulinic acid in the urine. The enzyme activity in the hepatoma tissue was seven times higher than in the surrounding liver, where the activity was not increased above the reported normal range. The activity of p‐hydroxyphe‐nylpyruvate hydroxylase (EC 1.14.2.2.) was about 25 % of the normal in the liver tissue but not measurable in the hepatoma. Tyrosine aminotransferase (EC 2.6.1.5.) activity was normal in the liver tissue but was not detectable in the hepatoma, whereas the activity of phenylpy‐ruvate keto‐enol isomerase (EC 5.3.2.1.) was the same in liver and hepatoma tissue.
BICYCLE ERGOMETER TESTS ON BUILDING APPRENTICES AGED 15–19
Authors: ÅSTRAND IRMA , KILBOM ÅSA 
Published: January 2008

SummaryA work test on a bicycle ergometer was carried out on 82 Swedish boys aged 15 to 19. The heart rates were recorded, both at the submaximal loads of 600 and 900 kpm/min and at the maximal work load. Maximal aerobic power was predicted from submaximal work loads and maximal heart rate. The heart rates obtained show decreasing values with increasing age at a given work load. This is partly ascribed to physical growth, and partly to some training effect noticeable in the older boys who have completed one year of building apprenticeship.
INTRAVENOUS GLUCOSE TOLERANCE, PLASMA INSULIN, FREE FATTY ACIDS AND β‐HYDROXYBUTYRATE IN UNDERWEIGHT NEWBORN INFANTS
Authors: GENTZ JOHAN C. H. , WARRNER RICHARD , PERSSON BENGT E. H. , CORNBLATH MARVIN 
Published: January 2008

SummaryBlood glucose, plasma insulin, FFA and β‐hydroxybutyrate values during intravenous glucose tolerance were reported in 20 small for gestational age (SGA) and 15 appropriate for gestational age (AGA) low birthweight infants. The babies were divided into three groups according to their age when tested; <24 hours, 24–48 hours and >48 hours.Both the SGA and AGA infants cleared glucose more rapidly with increasing age. The change was more marked in the SGA babies. The clearance rates were similar to those reported in normal full‐sized infants.The insulin values before the glucose load were similar in all groups and comparable to those reported in normal newborn infants.The insulin response to glucose was variable. There were no significant differences with increasing age or between the two groups of infants. The insulin curve of the individual infant followed one of three patterns. Most commonly seen was a double‐peak curve. The infants who showed a single‐peak insulin response had a better but not significantly different glucose tolerance than that of the other babies. Infants with no appreciable insulin response still removed glucose from plasma at a rate similar to those with a double‐peak insulin curve. It is concluded that insulin as measured in peripheral plasma could not explain the rate of removal of glucose from the plasma of the newborn low birthweight infant.Infants of low birthweight had higher plasma FFA values as compared to that reported in normal full term infants. The FFA values in SGA infants were higher than those in AGA babies. In both groups of infants, the jS‐hydroxybutyrate values were comparable to those reported in normal full‐term babies. Thus there was an unexpected discrepancy between the high FFA and relatively low β‐hydroxybutyrate levels in plasma. The fall in plasma FFA and β‐hydroxybutyrate after glucose was minimal but similar in both groups of infants.The findings are compatible with a decreased sensitivity to insulin in the infants studied.
IMMUNOGLOBULIN LEVELS DURING CHILDHOOD, WITH SPECIAL REGARD TO IgE
Authors: BERG T. , JOHANSSON S. G. O. 
Published: January 2008

SummaryIn a series comprising 215 children of ages 2–15 years, representative of the population in a medium‐sized Swedish town, determinations were made of the 5 immunoglobulins IgG, IgA, IgM, IgD and IgE. The children were divided with regard to the occurrence of allergic symptoms and to their general state of health. The results were subjected to extensive statistical calculations including regression analyses with regard to age and sex for the different immunoglobulins. A longitudinal study of the IgE development during the first year of life was also carried out.Mean values and normal variations for IgE at different ages are presented. The IgE development during childhood was found to be essentially similar to that of IgA.Adult IgG levels were reached, on the whole, at the age of 11–12 years, and a further IgG increase was noted in children during puberty. The girls had higher IgG concentrations throughout than the boys; this sex difference is not large but is statistically significant.The IgA levels rose gradually throughout childhood and had still not reached an adult level during puberty. No sex difference was found for IgA.Adult IgM levels were attained by the age of 4 years. The girls showed higher IgM concentrations throughout than the boys, and this difference is statistically significant.A statistically significant relationship was found between age and IgD level. IgD was lacking from the age of 7–8 years in 12–16 per cent of the children, a somewhat lower figure than has been reported previously for adults. No statistically significant sex difference was found. Children with atopic conditions had higher IgD levels than completely healthy children; this difference was statistically significant.
Monitoring high-dose heparinization during cardiopulmonary bypass – A comparison between prothrombinase-induced clotting time (PiCT) and two chromogenic anti-factor Xa activity assays
Authors: Kuitunen Anne , Petäjä Jari , Ilveskero Sorella , Lassila Riitta , Raivio Peter 
Published: January 2008

SummaryHeparinization requires monitoring, but optimal methods for measuring the anticoagulant effects of heparin remain to be determined. We compared prothrombinase-induced clotting time (PiCT) and two chromogenic anti-factor Xa activity (anti-Xa) assays in monitoring high-dose heparinization during cardiopulmonary by-pass (CPB). Heparin effects were serially measured with PiCT and two anti-Xa assays in 100 patients. Antithrombin and protein C activities were measured preoperatively, and antithrombin activity was measured during CPB. Activation of coagulation was assessed with measurements of prothrombin fragment F1+2, soluble fibrin complexes, and D-dimer before, during, and after CPB. During CPB mean ranges of PiCT and of anti-Xa heparin levels measured with (anti-Xa A) and without (anti-Xa B) dextran sulfate and antithrombin supplementation were 5.0–5.2, 4.7–5.0, and 4.5–4.9 IU/ml, respectively. There was poor agreement between PiCT and anti-Xa and between the two anti-Xa assays (r=0.32–0.65 and broad limits of agreement). Patients with low preoperative antithrombin or protein C levels had lower PiCT (p=0.028 and p=0.01) and anti-Xa A (both p<0.001) levels during CPB than others. Patients with the lowest heparin activities during CPB (lowest deciles of PiCT and anti-Xa A) had higher subsequent F1+2 after CPB (p=0.002 and p=0.02), and patients with high heparin levels required fewer transfusions of packed red blood cells than others. In conclusion, in the challenging setting of CPB there is poor agreement between anti-Xa assays and PiCT. However, coagulation-based PiCT could provide an alternative to the chromogenic anti-Xa assays. Higher heparin levels during CPB were confirmed to associate with reduced transfusion requirements.