Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type)

G6PD activity was assayed in 20 Sardinian heterozygotes for G6PD deficiency and related to that of LDH and MDH. One of these heterozygotes showed a deficient phenotype in all her follicles, while the remaining 19 had different proportions of deficient, intermediate, and normal follicles. This is in accordance with a previous estimate. Because of the broad fiducial limits at the 5% level and because of some developmental considerations, this value cannot be interpreted as indicative of the number of primordial cells for scalp epidermis at the time of X-chromosome inactivation, as previously stated. The assay of single hair follicles is, however, a very valuable tool for establishing the role of cell selection in the same or in a different tissue, like peripheral blood.     

Distribution of ABO and Rhesus blood groups in G6PD deficient Chinese and Malay newborns

The distribution of ABO blood groups was studied in 459 Chinese and 65 Malay newborns with deficiency of G6PD, and in 1181 Chinese and 535 Malay newborns with normal levels of the enzyme. Similarly, the distribution of Rhesus blood groups was studied in 248 G6PD deficient Chinese newborns and in 255 normal subjects. No association between the ABO blood groups and G6PD deficiency was observed in either Chinese or Malays. For the Rhesus system there was found to be a statistically significant decrease in the frequency of genotypes containing the complex R1, in G6PD deficient subjects compared with that in normal subjects.     

The repertoire of HLA-Cw-specific NK cell receptors CD158 a/b (EB6 and GL183) in individuals with different HLA phenotypes

Over the last few years, natural killer (NK) cells have been shown to express major histocompatibility complex (MHC) molecules recognizing receptors that are thought to function primarily as negative signalling receptors. Much attention has been focused on the NK cell receptors CD158a (EB6) and CD158b (GI 183), which recognize two alternative epitopes on the HLA-Cw locus. In order to investigate whether HLA type affects the CD158a/b repertoire, expressed as percentage positive cells for a particular receptor and mean expression on this population of NK cells, peripheral blood lymphocytes of 47 HLA-typed donors were examined. Peripheral blood samples were examined by flow cytometric analysis to investigate the expression of CD158a and CD158b receptors on the surface of NK cells. In parallel, we determined each individual's HLA phenotype. There was a great heterogeneity in CD158 expression; nevertheless all individuals had NK cells belonging either to the CD158 a+b-, a-b+ or a-b- populations. No positive or inverse correlations could be shown between either receptor expression intensity or proportion of positive cells, and presence of the appropriate ligand. Thus no association between an individual's NK receptor repertoire and HLA serotype could be demonstrated. It is concluded that CD158 is expressed on NK cells in a highly redundant fashion. Our data do not support either a positive selection mechanism or the receptor calibration model.     

Studies of the proporation and synthesis of haemoblogin C Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both haemoglobin G and alpha thalassaemia

This 9th Contribution concerns Cestodes obtained from: A Lamellibranchiata, B Gastropoda, C Pteropoda, D Cephalopoda, E Crustacea.     

Developmental change in red blood cell volume: implication in screening infants and children for iron deficiency and thalassemia trait

The mean corpuscular volumen when determined by electronic counter is an accurate tool for identification of children with microcytosis due to either iron deficiency or thalassemia trait. The purpose of this report is to describe the normal developmental changes in MCV that occur in children afler 6 months of age. In 211 healthy infants and children screened to exclude those with borderline or overt iron deficiency, thalassemia trait, or hemoglobinopathy, we found that the lower limit of normal for MCV is 70 ft between 10 and 17 months of age and that there is a gradual increase of MCV with age; the lower limit is 74 between 1 1/2 and 4 years and 76 between 4 and 7 years. All of these values are well below the minimum adult level of 80 fl.     

Frequency and significance of phenotypes for alpha1-antitrypsin deficiency in type 1 autoimmune hepatitis

To evaluate the frequency and significance of alpha1-antitrypsin deficiency in type 1 autoimmune hepatitis, 181 Caucasian patients were assessed for variant phenotypes. Three hundred three Caucasian patients with various other chronic liver diseases were similarly evaluated. Twenty-one of the 181 patients (12%) had heterozygous deficiencies, including the MS (6%) and MZ (6%) phenotypes. These patients were indistinguishable from those with normal phenotypes. Immediate outcomes after corticosteroid therapy were also similar in both groups. Variant phenotypes were present in 34 of the 303 patients with other chronic liver diseases (11%). Patients with nonalcoholic steatohepatitis had a significantly greater frequency of deficiency phenotypes than patients with chronic hepatitis C (20% vs 7%, P = 0.03). In conclusion, deficiency phenotypes are common in type 1 autoimmune hepatitis and they have no clinical or prognostic importance. In certain liver diseases, such as nonalcoholic steatohepatitis, variant phenotypes may be comorbid factors.     

Associations of types of lens opacities between and within eyes of individuals: an application of second-order generalized estimating equations. The Framingham Eye Studies Group

The lens opacity characteristics of individuals constitute multivariate data. Our goal was to estimate the associations between the three main types of age-related lens opacities (nuclear, cortical, posterior subcapsular) both between and within eyes of individuals using cross-sectional data from the Framingham (Massachusetts) Eye Studies. We describe use of a recently proposed extension of the generalized estimating equations approach to marginal logistic models (GEE2), and we demonstrate that a variety of research problems can be investigated with this methodology. For example, in our data, there were strong associations of the same opacity types between the two eyes of individuals and weak associations between different types of opacities. We also note that estimation of such associations may be limited in other epidemiologic settings.     

An examination of the genetic relationship between bipolar and unipolar illness in an epidemiological sample

In an epidemiologic sample of female-female twin pairs, we previously reported analyses of lifetime major depression. Because lifetime mania was not assessed, we could not differentiate unipolar from bipolar illness. Having completed such an evaluation in this sample, we now examine three questions: (i) does removing bipolar cases from our cohort substantially alter estimates for the heritability of major depression?; (ii) does our epidemiologic data support a familial relationship between major depression and mania?; and (iii) do our results for major depression and mania suggest that the two disorders are caused by the same underlying liability? We find that (i) the heritability of major depression declines only trivially if cases with a history of mania are removed; (ii) mania in one twin predicts major depression in her cotwin-suggesting a familial/genetic relationship between major depression and mania; and (iii) a multiple threshold model fits our data well, consistent with the hypothesis that unipolar and bipolar disorders are points on a continuum of a single liability of illness. The validity of these results are tempered by the small number of bipolar cases detected, as expected from the low base rate of mania in general population samples.     

PD 98059 prevents establishment of the spindle assembly checkpoint and inhibits the G2-M transition in meiotic but not mitotic cell cycles in Xenopus

Human mast cells and basophils play a key role in the pathogenesis of several immunological and inflammatory disorders, not only by producing inflammatory and fibrogenic mediators, but also by directly (CD40 ligand) and indirectly secreting various cytokines and chemokines. Studies carried out to evaluate the effects of drugs that modulate the release of mediators and cytokines from these cells have contributed to clarifying the biochemical mechanism by which immunological and non-immunological stimuli activate these cells. Significant differences have been documented between human mast cells and basophils as regard the pharmacological agents that modulate the release of mediators, between mast cells isolated from different anatomical sites, and between compounds of the same class of drugs. Efforts to gain insight into the biochemical events occurring during immunological activation of mast cells and basophils could lead to the identification of new biochemical targets for therapeutic interventions in several immunological disorders.     

Action of growth hormone on erythropoiesis: changes in red blood cell enzyme activities in growth-retarded patients with and without growth hormone deficiency

Fifteen red cell enzyme activities of growth-retarded patients with and without growth hormone (GH) deficiency were investigated before and after GH administration. The 15 enzymes were Hexokinase, phosphoglucomutase, glucose phosphate, isomerase, phosphofructokinase, fructose diphosphate aldolase, glyceraldehyde-3-phosphae dehydrogenase, triosephosphate isomerase, 2,3-diphosphoglycerate mutase, 3-phosphoglycerate kinase, 3-phosphoglycerate mutase, enolase, pyruvate kinase, glycose-6-phosphate dehydrogenase, 6-phosphogluconic dehydrogenase, glutathione reducase. Sixty-six subjects were studied: 30 normal control subjects (group N) and 36 patients (aged 5-23 years) with short stature. Complete endocrine evaluation showed 21 (group I) to have GH deficiency (10 patients with isolated GH deficiency) and 15 (group II) to have normal hypothalamic and pituitary function except for two patients with a moderate hypothyroidism. Both had been receiving thyroid hormone treatment for a long time before our studies. All 36 patients were treated with 2 mg human growth hormone intramuscularly for 7 days. Before GH treatment no significant difference was observed between hematologic data in group I (GH deficiency) and group II (no GH deficiency). After GH therapy there was a significant increase in reticulocyte count in both groups of patients with short stature. The mean pretreatment value in group I was 1.294% +/- 0.084 (SEM); the mean post-treatment value was 2.081% +/- 0.287 (SEM)< P less than 0.005. The mean pretreatment value in group II was 1.0% 0.184 (SEM); the mean post-treatment value was 1.407% +/- 0.193 (SEM), P less than 0.01. In group II (no GH deficiency) mean pretreatment erythrocyte enzyme activities were not significantly different from those activities observed in normal control subjects (group N). However, in patients who lacked GH, the pretreatment activities of five red cell enzymes (glucose phosphate isomerase, triosephosphate isomerase, glyceraldehyde-3-phosphate dehydrogenase, 2,3-diphosphoglycerate mutase, 3-phosphoglycerate kinase) were significantly decreased before GH administration compared with the values in normal control subjects...     

The importance of growth hormone in the regulation of erythropoiesis, red cell mass, and plasma volume in adults with growth hormone deficiency

Total body water (TBW) is reduced in adult GH deficiency (GHD) largely due to a reduction of extracellular water. It is unknown whether total blood volume (TBV) contributes to the reduced extracellular water in GHD. GH and insulin-like growth factor I (IGF-I) have been demonstrated to stimulate erythropoiesis in vitro, in animal models, and in growing children. Whether GH has a regulatory effect on red cell mass (RCM) in adults is not known. We analyzed body composition by bioelectrical impedance and used standard radionuclide dilution methods to measure RCM and plasma volume (PV) along with measuring full blood count, ferritin, vitamin B12, red cell folate, IGF-I, IGF-binding protein-3, and erythropoietin in 13 adult patients with GHD as part of a 3-month, double blind, placebo-controlled trial of GH (0.036 U/kg.day). TBW and lean body mass significantly increased by 2.5 +/- 0.53 kg (mean +/- SEM; P < 0.004) and 3.4 +/- 0.73 kg (P < 0.004), respectively, and fat mass significantly decreased by 2.4 +/- 0.32 kg (P < 0.001) in the GH-treated group. The baseline RCM of all patients with GHD was lower than the predicted normal values (1635 +/- 108 vs. 1850 +/- 104 mL; P < 0.002). GH significantly increased RCM, PV, and TBV by 183 +/- 43 (P < 0.006), 350 +/- 117 (P < 0.03), and 515 +/- 109 (P < 0.004) mL, respectively. The red cell count increased by 0.36 +/- 0.116 x 10(12)/L (P < 0.03) with a decrease in ferritin levels by 39.1 +/- 4.84 micrograms/L (P < 0.001) after GH treatment. Serum IGF-I and IGF-binding protein-3 concentrations increased by 3.0 +/- 0.43 (P < 0.001) and 1.3 +/- 0.15 (P < 0.001) SD, respectively, but the erythropoietin concentration was unchanged after GH treatment. No significant changes in body composition or blood volume were recorded in the placebo group. Significant positive correlations could be established between changes in TBW and TBV, lean body mass and TBV (r = 0.78; P < 0.04 and r = 0.77; P < 0.04, respectively), and a significant negative correlation existed between changes in fat mass and changes in TBV in the GH-treated group (r = -0.95; P < 0.02). We conclude that 1) erythropoiesis is impaired in GHD; 2) GH stimulates erythropoiesis in adult GHD; and 3) GH increases PV and TBV, which may contribute to the increased exercise performance seen in these patients.     

Relationship between appearance of urinary red blood cell/white blood cell casts and the onset of renal relapse in systemic lupus erythematosus

The purpose of the study was to determine the extent to which urinary sediment findings (changes in red blood cells [RBCs], white blood cells [WBCs], and the appearance of RBC and WBC casts) predict the onset of renal relapse (defined as a specific increase in proteinuria and/or serum creatinine level) in patients with systemic lupus erythematosus (SLE). Seventeen SLE patients with biopsy-proven diffuse proliferative glomerulonephritis at initial presentation were followed prospectively for 1,129 patient-months under a study protocol. Semiquantitative urinalyses were performed at 2-month intervals during periods with little or no SLE activity and, more frequently, during periods with increased SLE activity. Each urinalysis was accompanied by a clinical evaluation and a panel of screening tests relevant to the evaluation of SLE activity. During this study, 877 semiquantitative urinalyses were performed and 43 renal relapses were observed in 14 patients. No relapse occurred in three patients. Of the renal relapses, 30 were defined as proteinuria relapses (mean baseline proteinuria increased from 0.8 +/- 0.1 g/24 hr to 2.7 +/- 0.3 g/24 hr; P < 0.001) and 13 were defined as serum creatinine relapses (mean baseline serum creatinine increased from 2.7 +/- 0.4 mg/dL to 3.8 +/- 0.5 mg/dL; P < 0.001). Red blood cell and/or WBC casts (cellular casts) were observed before or at the onset of 35 of the 43 renal relapses (sensitivity, 81%). The mean and median intervals between the appearance of cellular casts and the onset of renal relapse was 10 +/- 2 weeks and 8 weeks, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)     

Association between an early humoral response to Mycobacterium tuberculosis antigens and later development of tuberculosis in human immunodeficiency virus-infected individuals

We describe four cases of inflammatory pseudotumor seen at our institution in the past 4 years. Four children were each found to have a large extraperitoneal mass on imaging studies, three of which were in the pelvis. Malignant sarcomatous tumors were suspected. Surgical biopsy of each mass, however, revealed inflammatory pseudotumor.     

吖啶黄-罗丹明6G之间荧光能量转移及其在测定钒中的应用

在λex/λem=465/556 nm,阴离子表面活性剂十二烷基硫酸钠(SLS)存在下,吖啶黄-罗丹明6G间能够发生有效的能量转移,使罗丹明6G的荧光强度大大增强;在弱酸性条件下,五价钒的加入使能量转移体系罗丹明6G的荧光强度降低,即发生荧光猝灭。利用吖啶黄-罗丹明6G能量转移荧光猝灭法测定痕量钒,提高了测定钒的灵敏度和选择性。钒在5.85~87.74μg/L范围内与罗丹明6G荧光猝灭程度呈良好的线性关系,测定11份空白溶液,计算方法检出限为3.73μg/L。该方法用于饮用水和工业废水中痕量钒的测定,相对     

Demonstration of identical expanded clones within both CD8+CD28+ and CD8+CD28- T cell subsets in HIV type 1-infected individuals

In HIV-1-infected individuals, the CD8+CD28- T cell subset is considerably expanded and is frequently the largest subset of T cells found in peripheral blood. It has been assumed, but not proven, that CD8+CD28- T cells derive from CD8+CD28+ T cells in vivo. To further study the ontogeny of CD8+CD28- T cells, we have performed analyses of the complementarity determining region 3 (CDR3) of the TCRB of CD8+CD28+ and CD8+CD28- T cells from the peripheral blood of HIV-1-infected individuals. When cells from the same individual were compared, expanded peaks in CDR3 length analysis within a given BV family were frequently observed at the same location in both CD8+ subsets (p < 0.001). Sequencing of cDNA corresponding to dominant peaks revealed the presence of identical expanded CD8+ T cell clones within both the CD28+ and CD28- subsets on eight of nine attempts. Our results show that CD8+CD28+ and CD8+CD28- T cells are phenotypic variants of the same lineage, most likely evolving from CD8+CD28+ to end-stage CD8+CD28- T cells.