Search PubMed⌕ Search

Biomedical subjects

G R Honig

Publications and source records attributed to G R Honig.

At least 37 records · Page 2Linked to original sources
PubMed1983

Acetylesterase in lymphoblastic leukaemia associated with thymic enlargement.

Focal cytoplasmic acetylesterase activity was sought in the malignant cells of 91 consecutive children with acute lymphoblastic leukaemia, of whom 10 had an anterior mediatstinal mass at diagnosis. This subgroup with thymic disease (TD) was characterized by hyperleucocytosis, the total leucocyte count being greater than 200 X 10(9)/1 in 6 patients. Furthermore, there was a significant association (P less than 0.025) between TD and the presence of leukaemic blast cells expressing a thymic phenotype, in the form of rosette formation with sheep erythrocytes. Focal cytoplasmic acetylesterase activity identified TD with a sensitivity of 20%, a specificity of 91%, a positive predictive value of 25%, a negative predictive value of 88% and a diagnostic accuracy of 81%. The demonstration of this feature by a simple cytochemical technique can be a useful component of the profile of investigations which are employed in the classification of acute lymphoblastic leukaemia.

Acetylesterase↗
PubMed1983

Iron deficiency and sickle cell anemia.

In a patient with sickle cell anemia, iron deficiency was accompanied by hypochromic, microcytic RBCs, absence of bone marrow iron, and a low serum ferritin level. The mean corpuscular hemoglobin concentration (MCHC) was decreased (27.6 g/dL) and was associated with an extreme scarcity of sickled erythrocytes in blood smears. Iron therapy resulted in reticulocytosis and an increase in sickled erythrocytes. In vitro studies demonstrated a decrease in sickling of erythrocytes as a function of oxygen saturation of the blood when the patient was iron deficient. The whole blood oxygen dissociation curve showed a substantial decrease in oxygen pressure necessary to produce 50% saturation of hemoglobin at pH 7.4 and 37 degrees C (P50), indicating an increased oxygen affinity. These data suggest that a reduction of the MCHC induced by iron deficiency may ameliorate sickling.

Anemia, Hypochromic↗
PubMed1982

Hemoglobin F Lódź (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent.

An electrophoretically slowly migrating hemoglobin variant was identified in a neonate of Polish parents from a cord blood hemoglobin survey. Structural analysis of the gamma chain of the mutant hemoglobin, with fractionation of the tryptic peptides by means of high-performance liquid chromatography, demonstrated a substitution of serine-44 by arginine. Glycine was identified at position 136 of the gamma chain and isoleucine at position 75. Serine residue 44 appears not to be a heme contact site, but as a result of the substitution in this mutant hemoglobin, the possibility exists for formation of a salt bridge between the arginine and a heme propionate group. The infant's hematologic findings suggested the possibility of mild hemolysis, but these changes may have been due to isoimmune disease.

Amino Acids↗
PubMed1982

The identification of fanconi anemia genotypes by clastogenic stress.

Clastogen-induced chromosome damage was investigated in peripheral lymphocytes of five patients with Fanconi anemia (FA), 10 obligate heterozygotes, 25 normal controls, and four individuals with some clinical manifestations of FA. The two agents used were diepoxybutane (DEB) and mitomycin C (MMC), previously reported to be specific for the induction of increased chromosome breakage in FA cells. Following clastogenic stress, two of the five FA patients did not exhibit the expected increase in chromosomal damage while three of the four "non-FA" individuals did. In this series of subjects, the possibility of misdiagnosis is considerable when based on either clinical delineation or cytogenetic results alone. Therefore, the integration of both laboratory data and physical findings is essential before reaching a diagnosis. Furthermore, the broad range of response in both the control group and the parents of FA patients yields overlapping results, making reliable heterozygote detection impractical by these procedures.

Adolescent↗
PubMed1981

Transient erythroblastopenia of childhood. Review of 17 cases, including a pair of identical twins.

Seventeen patients aged 7 to 33 months, including a pair of identical twin girls, came to the Children's Memorial Hospital, Chicago, between January 1975 and December 1979 with transient normocytic anemia and reticulocytopenia. In 16 of the patients, bone marrow aspirates were obtained; 15 showed erythroblastopenia and one showed erythroid hyperplasia indicative of recovery. Except for a cluster of six cases occurring from July to October 1979, no seasonal variation was observed. Unlike patients with congenital hypoplastic anemia, all 17 patients were of normal stature. Other distinguishing features of transient erythroblastopenia of childhood included onset after early infancy, normocytosis, and rapid, spontaneous recovery.

Anemia↗
PubMed1980

Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity.

Hemoglobin Milledgeville, a new hemoglobin structural variant, was identified in three members of a black American family. The oxygen affinity of blood and hemoglobin samples from the affected individuals was markedly increased (p50 O2 of whole blood 11-15 mmHg at 37 degrees C, pH 7.4), and the abnormality was associated with mild erythrocytosis. The variant hemoglobin did not separate from Hb A by electrophoresis or by chromatography or isoelectric focusing, and efforts to isolate an abnormal globin chain were also unsuccessful. The Hb A2 fraction as well as Hb A from erythrocytes of affected individuals exhibited increased oxygen affinity, indicating that the altered oxygen equilibrium was the result of a hemoglobin alpha chain abnormality. Fractionation of trypsin and chymotrypsin digests of isolated alpha chains demonstrated a single abnormal peptide representing a Pro leads to Leu substitution at alpha 44 (CD2). Properties of Hb Milledgeville include low cooperativity (n = 1.1-1.4), a normal alkaline Bohr effect (delta logp50/delta pH = -0.62), and normal interaction with 2,3-diphosphoglycerate. The alpha CD2 proline residue normally participates in the formation of the alpha 1 beta 2 subunit interface in the deoxy quaternary conformation, but not in oxyhemoglobin; the leucine substitution may produce destabilization of the deoxy conformation with a resulting shift in equilibrium toward the oxy conformation.

Amino Acid Sequence↗
PubMed1980

Fever and neutropenia in children with neoplastic disease: an analysis of 158 episodes.

The development of fever in neutropenic cancer patients is frequently an indication of infection. The response of these patients to antibiotic treatment is often poor, and the recent literature continues to document a substantial mortality rate in spite of the prompt treatment of these patients with multiple-agent antibiotic therapy. Because of limited available information regarding fever and neutropenia in pediatric cancer patients, we undertook an analysis of a group of such patients from a pediatric oncology center. The incidence of probable and documented infections was 39.2% in a group of these patients, representing 158 febrile episodes. The most frequent form of infection was bacterial sepsis; pulmonary infections were the next most frequent, followed by infections of skin and soft tissues. In leukemia patients with culture-proven infections, gram-negative organisms were isolated in 61.1% of episodes while gram-positive organisms were isolated in 41.7%. Escherichia coli and Staphylococcus aureus were the organisms most frequently isolated from these patients. In solid-tumor patients with bacterial infections, gram-positive organisms were isolated in 78% of cases. Patients having the highest incidence of documented infections were those with leukemia who had active disease (induction or relapse), and severe neutropenia (less than 200 granulocytes/microliter). Antibiotic therapy with cephalothin, gentamicin, and carbenicillin (CGC), was effective in 41 of 45 (91.1%) episodes of documented infection in the total group of patients.

Adolescent↗
PubMed1980

31P NMR spectroscopy of erythrocytes in congenital hemolytic anemias: detection of heterogeneous erythrocyte populations and quantification of intracellular 2,3-diphosphoglycerate.

Phosphorus-31 nuclear magnetic resonance (NMR) spectra were determined from intact erythrocytes of a patient with homozygous beta-thalassemia and from three patients with pyruvate kinase (PK) deficiency. The intracellular 2,3-diphosphoglycerate-(2,3-DPG) were mildly elevated in the thalassemia patient and in PK heterozygotes, and were markedly elevated in the PK-deficient homozygotes. The 2,3-DPG chemical shifts in the patients' NMR spectra were consistently positioned at a higher magnetic field than normal. When the patients with thalassemia or PK deficiency were transfused with blood from a normal donor, or when a patient's erythrocytes were mixed with normal erythrocytes, two distinct sets of 2,3-DPG resonances appeared in the resulting spectra, allowing the simultaneous quantification of the 2,3-DPG levels in each erythrocyte population. The ability of NMR to detect heterogeneous cell populations may be useful for the diagnosis of congenital hemolytic anemias in patients who have been transfused.

2,3-Diphosphoglycerate↗
PubMed1980

Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia.

Nucleated bone marrow cells from normal individuals and from three patients with homozygous beta+-thalassemia were pulse-labeled with tritiated nucleosides. The processing of the newly synthesized globin mRNA precursors was monitored by inhibiting additional transcription with actinomycin D for 30 min. Human beta-globin mRNA is derived from its precursor via a series of reactions that generate processing intermediates. In nonthalassemic cells the precursor is processed efficiently to mature mRNA during the chase. In contrast, in beta+-thalassemic cells the processing of beta-globin RNA is defective. In one patient the beta-globin mRNA precursor turns over during the chase, but some of the intermediate RNAs accumulate and are not processed to mRNA. In two other patients a large fraction of the precursor and intermediate RNAs is not processed to mRNA. The alpha-globin mRNA precursor and intermediates are processed efficiently to mRNA-sized molecules in thalassemic and normal cells. The reduction in the rate of beta-globin but not alpha-globin RNA processing accounts for the alpha/beta globin mRNA imbalance in thalassemic erythroid cells. We discuss the possibility that the genetic lesions in beta+-thalassemia are at splicing signal sites within intervening sequences of the beta-globin gene.

Bone Marrow↗
PubMed1980

Hemoglobin C-I-A.

Hemoglobin I (alpha 16 lys leads to glu) was identified in association with hemoglobins C and A in a black American woman who had no clinical or hematologic disease. Her erythrocytes contained four major hemoglobins, all of which were separable by DEAE-cellulose column chromatography. Nearly 50% of the total recovered alpha I-chains were present in combination with beta C, suggesting that there may have been preferential formation of the alpha I beta C hybrid hemoglobin.

Amino Acids↗
PubMed1980

Immunoquantitation of Hageman factor in urine and plasma of children with nephrotic syndrome.

Children with nephrotic syndrome frequently have decreased plasma levels of Hageman factor (factor XII). Studies were designed to determine whether this finding results primarily from a loss of Hageman factor in the urine or is related to an alteration in the Hageman factor protein itself. A monospecific anti-Hageman factor goat antibody was prepared and used for quantitative measurements of Hageman factor in urine and plasma by a radial immunodiffusion method. Samples of 24 hr urine collections from 14 children with nephrotic syndrome were examined by this immunoassay technique; no Hageman factor was detected in the urine in 13/14 patients. Comparative studies using plasma from the nephrotic syndrome patients and nine normal controls demonstrated: (1) a significantly reduced level of Hageman ACT in the nephrotic syndrome patients (p < 0.001); (2) a reduction to a lesser degree of the levels of CRM in the same group (p < 0.001); and (3) a significantly increased CRM/ACT ratio in the plasma of the patients with nephrotic syndrome (p < 0.01) indicating partial inactivation of the Hageman factor enzymatic function. However, no inhibitory activity to added Hageman factor could be detected in the plasma or urine of the patients. These findings indicate that the decreased plasma Hageman factor activity that accompanies the nephrotic syndrome cannot be adequately explained by simple urinary loss of Hageman factor as has previously been suggested.

Adolescent↗
PubMed1980

Hemoglobin Nigeria (alpha-81 Ser replaced by Cys):a new variant associated with alpha-thalassemia.

Hematologic evaluation of a Nigerian obstetrical patient disclosed the presence of sickle-cell trait as well as evidence of a hemoglobin alpha-chain abnormality. Hemoglobins containing the variant alpha-chain were isolated by DEAE-cellulose column chromatography, and analysis of the purified alpha-chain demonstrated a ser replaced by cys substitution at alpha-81. The abnormal alpha-chain represented approximately 45% of the total, and hemoglobins containing this alpha-chain appeared to have normal stability and functional properties. In addition to the abnormal hemoglobins that were identified in this patient, she also was found to have persistent microcytosis in the absence of iron deficiency, and the percentage of HbS in her erythrocytes was less than that usually present in individuals with sickle cell trait. These findings, together with a reduced alpha/beta globin synthesis ratio from her peripheral blood reticulocytes, indicated that the presence of alpha-thalassemia trait. Hematologic findings from members of the patients's family suggest that an alpha-thalassemia gene may be linked to that of the structurally abnormal alpha-chain.

Absorption↗
PubMed1980

Two new sickle cell syndromes: HbS, Hb Camden, and alpha-thalassemia; and HbS in combination with Hb Tacoma.

Hemoglobin variants having electrophoretic mobility more rapid than that of HbA were identified in combination with sickle hemoglobin in two patients at the Cook County Hospital. Neither individual had symptomatic hematologic disease. In one patient, the rapidly migrating hemoglobin had the amino acid substitution characteristic of Hb Tacoma (beta-40 arg leads to ser), a mildly unstable variant. In the other patient, Hb Camden (beta-131 gln leads to glu) was identified, and the hematologic findings also indicated that he has alpha-thalassemia trait. In the patient with HbS-Camden--alpha-thalassemia, globin synthesis was unbalanced (alpha/beta 0.66), and HbS represented only 19.5% of the total hemoglobin. The latter finding suggests that under conditions of limited alpha-chain availability beta Camden may combine with alpha subunits at least as efficiently as does betaA. HbS represented 56% of the hemoglobin of the patient with HbS Tacoma, although the rate of synthesis of beta Tacoma by her reticulocytes was consistently greater than that of betaS. A time-course synthesis study demonstrated a progressive increase in the specific activity of beta Tacoma in relation to that of betaS, suggesting that the unstable beta-chains of Hb Tacoma underwent selective intracellular degradation. This process appears to explain the disparity between the rates of synthesis of the two beta chains and the relative representation of HbS and Hb Tacoma in the patient's erythrocytes.

Adolescent↗
PubMed1979

The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor.

Wilms' tumor was diagnosed in two children each of whom has an identical twin. In one of the pairs of twins the aniridia syndrome with psychomotor retardation was present in both children, but Wilms' tumor was found in only one. In the other twins hemihypertrophy as well as Wilms' tumor were identified in one child, whereas neither of these abnormalities was present in her twin sister. These findings lend support to a hypothesis that the development of Wilms' tumor requires the occurrence of two successive mutational events, one of which may be a germinal mutation. The presence of aniridia, hemihypertrophy, or other associated congenital abnormalities may aid in distinguishing between hereditary and sporadic forms of Wilms' tumor.

Abnormalities, Multiple↗
PubMed1979

Three new variants of glucose-6-phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G-6-PD Lincoln Park, G-6-PD Arlington Heights, and G-6-PD West Town.

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was identified in three children who were evaluated because of chronic nonspherocytic hemolytic anemia. One child is of German extraction, another Puerto Rican, and the third Mexican. In each of the patients the hemolytic process was well compensated, but each had one or more episodes of anemia following exposure to an oxidant drug or with infections. The electrophoretic, functional, and kinetic properties of the mutant enzymes, derived both from the patients' erythrocytes and from cultured fibroblasts, allowed each to be distinguished from G-6-PD variants previously described.

Anemia, Hemolytic, Congenital Nonspherocytic↗