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Detection of a patient suffering from Krabbe's disease led to carrier screening in his family. Determination of galactosylceramide β-galactosidase activity revealed the occurrence of two different alleles among the carriers of the same family. Heterozygotes and their noncarrier relatives were studied using psychometric and neuropsychological tests under blind conditions. It was found that compared to seven adult noncarrier relatives 19 adult carriers differ significantly in their general IQ and some subtests of the Wechsler Intelligence Scale for adults (WISA), including spatial cognition. Reaction times were significantly slower in the carriers with enzyme activity below 25% of the control values. Most of the carriers of this family have had myopia since early childhood. [ABSTRACT FROM AUTHOR]

A sample of 38 clinically unaffected carriers for various lipidoses and their noncarrier relatives was studied with biochemical, psychological, and neuropsychological tests under blind conditions. The largest group of carriers was that for metachromatic leucodystrophy (MLD). The mean activity of arylsulphatase A or cerebroside sulphatase in the obligate carriers was 25%-30% of the control values, some heterozygotes showing little more activity than MLD patients. It was found that compared with the controls all heterozygotes (both obligate and facultative) differ unfavourably in some personality traits and in WISA subtests, including capacity for spatial cognition. These differences are especially obvious in a group of seven MLD carriers from the same family. With respect to reaction times, performance was significantly slower in MLD carriers, and particularly in those with enzyme activity lower than 30% of the control values. [ABSTRACT FROM AUTHOR]

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Ten children with transfusion dependent anemias (thalassemia, sideroblastic anemia, congenital pure red cell aplasia) received either intravenous desferrioxamine (DF) in increasing doses up to 450 mg/kg at the time of transfusion or daily subcutaneous DF up to 110 mg/kg on an outpatient basis. No patient on intravenous DF reached a negative iron balance. All children with a subcutaneous DF dose of more than 60 mg/kg obtained a negative iron balance with a net iron excretion (transfusion iron already substracted) between 206 to 810 mg (mean 496 mg) monthly. The effectiveness of regular subcutaneous DF on liver storage iron could be confirmed in 4 patients by liver biopsy, showing a decrease between 40-60% iron after 12-14 months of chelation therapy. So far the daily iron excretion has remained constant with a given dose of DF over a period up to 15 months. Even if poor compliance in some patients is taken into account, it is possible with this method of treatment to prevent further accumulation of iron in chronically transfused children. [ABSTRACT FROM AUTHOR]

Red cell mass (RCM) was estimated using I-labelled human serum albumin in 128 premature infants born after 26 to 36 weeks gestation. Infants of three different gestational periods (26-29, 30-32, and 33-36 weeks) with respiratory distress (RD) averaged lower one-minute Apgar scores and lower RCM than infants without RD ( P<0.05). The incidence of RD was significantly ( P<0.05) higher in infants with Apgar scores below 6 and in infants with RCM of less than 35 ml/kg than in the infants with greater values. The highest incidence of RD and the highest mortality rate were found in the infants with low Apgar scores and low RCM values. Prematures with similar Apgar scores showed a higher incidence of RD when RCM was low, and infants with similar RCM showed a higher incidence of RD when Apgar scores were low. Our results suggest that both birth asphyxia and deficiency of red cell mass interfere with postnatal cardio-respiratory adaptation. In high-risk premature infants, erythrocytes should be transfused when the venous haematocrit is below 0.45. [ABSTRACT FROM AUTHOR]

Peripheral blood flow and systolic blood pressure (strain-gauge plethysmograph), blood volume (Evans blue) and whole blood viscosity (cone-plate viscometer) have been measured in 66 premature and full-term infants 6 to 144h of age. Blood flow and blood volume were moderately decreased in the infants with respiratory distress. Highly significant ( P<0.001) correlations were found betwen blood flow and blood volume ( r=0.77), blood pressure and blood volume ( r=0.50), peripheral resistance and blood volume ( r=-0.44), blood flow and blood pressure ( r=0.50), blood flow and peripheral resistance ( r=-0.67), peripheral resistance and blood viscosity ( r=0.45), and blood viscosity and haematocrit ( r=0.86). There was no correlation between peripheral blood flow and blood viscosity. However, at given blood volume, peripheral blood flow decreased with increasing blood viscosity. These results indicate that in newborn infants peripheral blood flow, blood pressure and peripheral resistance are influenced by blood volume, but also depend on blood viscosity. [ABSTRACT FROM AUTHOR]

Blood volume and its components were estimated using iodinated human serum albumin in 194 newborn infants with 26 to 41 week gestations. Umbilical cords were ligated 15 seconds after vaginal delivery ( n=141) and within 5 seconds after delivery by Caesarean section ( n=53). The infants were divided into four groups according to the mode of delivery and presence of prenatal complications: group I: vaginal deliveries ( n=96) and group II: Caesarean section ( n=25) without preceding complications; group III: infants with intra-uterine asphyxia ( n=56); group IV: infants with tight umbilical cord loops around neck ( n=17). Subgroups were established with respect to gestational age and to one-minute Apgar scores. Significantly different blood volume (BV) and red cell mass (RCM) values between the subgroups were only found in group I with respect to different Apgar scores: Ia Apgar>5: BV 77.9±6.2; RCM 37.5±5.1 ml/kg; Ib Apgar<6: BV 70.0±4.4; RCM 29.6±2.9 ml/kg ( P<0.005). Intra-partum asphyxia did not affect BV (71.3±4.8 ml/kg) and RCM (31.2±3.6 ml/kg) in group II. BV and RCM were significantly ( P<0.005) lower than in group Ia. In group III, BV (90.4±7.0 ml/kg) and RCM (46.9±6.3 ml/kg) were significantly ( P<0.005) higher than in group I, irrespective of the mode of delivery and Apgar scores. The infants of group IV had the lowest volumes (BV 67.5±5.7; RCM 27.4±2.7 ml/kg). Values obtained in premature and full-term infants were similar in the respective groups. These results indicate that infants with intra-partum asphyxia and with tight nuchal cords do not participate in placental transfusion or even lose some blood into the placenta. However, infants with intrauterine asphyxia (excepting those with tight nuchal cords) receive marked placental transfusion in utero. [ABSTRACT FROM AUTHOR]

Venous and capillary hematocrit, acid base values, and circulatory parameters were measured simultaneously in 92 newborn infants within six hours of birth. Gestational age ranged from 26 to 41 weeks. The capillary/ venous hematocrit ratio (Hct/Hct) was greater than 1.00 in 89 infants. We found significant inverse correlations between Hct/Hct and several parameters, such as pH ( r=-0.82), standard bicarbonate ( r=-0.73), systolic blood pressure ( r=-0.51), and peripheral blood flow ( r=-0.70). Most of the infants with a Hct/Hct of 1.20 and above had red cell mass values of less than 35 ml/kg. However, blood volume apparently did not influence the Hct/Hct. Gestational age appeared to affect Hct/Hct only before 30 weeks, when compared with the Hct/Hct of term infants. Our results indicate that disturbed circulation, and in particular, disturbed microcirculation, is involved in the development of high Hct/Hct ratios. We strongly advise that hematocrits obtained by skin prick from a sick newborn infant should not be relied on as they may give misleading information on oxygen carrying capacity to vital organs. [ABSTRACT FROM AUTHOR]

Blood volume was studied in 160 infants and children aged from one hour to 14 years. From these data linear and logarithmic regression equations relating blood volume to weight, height and surface area were calculated. Equations utilizing combined height and logarithmic weight values were found to be the most accurate for predicting blood volume. Therefore, nomograms were constructed for reading blood volume directly from height and weight. [ABSTRACT FROM AUTHOR]

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Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Blut: Zeitschrift für die Gesamte Blutforschung is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Blut: Zeitschrift für die Gesamte Blutforschung is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Naunyn-Schmiedebergs Archiv für Experimentelle Pathologie und Pharmakologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In-vitro oxygen dissociation curves were constructed for 14 subjects. To uncover individual variations, at least 3 curves were drawn for most subjects over a period of several weeks. In 5 subjects they were drawn over a period of 2 years. The resultant individual characteristics are constant for years. The maximum variation of oxygen partial pressure necessary to produce 50% saturation in our subjects amounted to 5.4 mm Hg. The mean partial pressure of oxygen for half saturation from all experiments was 26.8 mm Hg, standard deviation ±2.6. A new 'Standard Oxygen Dissociation Curve' is presented. [ABSTRACT FROM AUTHOR]

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From 70 infants born after gestation periods of 28-41 weeks HbF and HbA2 were determined in the cord blood; HbA was calculated from the two values. HbF decreased with maturity, HbA and HbA2 increased. The percentage of HbA2 calculated from the sum of HbA + HbA2 (non-fetal Hb) increased from 0.57% to 0.83% with maturity. These values are much lower than those in adult controls (1.83%). The results show that during development the synthesis of the delta-globin chains lags behind that of the beta-globin chains. This is remarkable considering the location of the delta-globin gene within the beta-globin like gene cluster. [ABSTRACT FROM AUTHOR]

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Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)