We report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q25----6qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have developmental retardation, microcephaly, craniofacial anomalies, various types of congenital heart defects, and anomalies of hands and feet. The facial similarities of our two patients and those in six published photographs are subtle and may represent an emerging phenotype.
Erythrocyte 2,3-diphosphoglycerate (2,3-DPG) concentrations in 10 patients with acute lymphoblastic leukemia rose 21.3%(P smaller than 0.02) after 3 weeks of prednisone and vincristine therapy, and returned to pretreatment level 2 weeks after therapy had been discontinued. The mean 2,3-DPG level of three patients on vincristine alone did not vary significantly from the control level of the leukemia patients on prednisone and vincristine. No significant change in serum inorganic phosphate level was observed. The mean erythrocyte 2,3-DPG concentration of 17 nephrotic syndrome patients being treated with chronic prednisone therapy was 14.0% higher than a control group of 20 nephrotic syndrome patients not being treated with prednisone (P small than 0.01). A significant positive correlation was observed between the dose of prednisone and 2,3-DPG level.
studies specific g o a t a n t i -S and specific r a b b i t a n t i -F sera were shown t o b e adequate f o r q u a n t i f y i n g hemoglobins S and F i n mixed p r o p o r t i o n s s i m u l a t i n g those anticipated in newborn infants w i t h hemoglobin AS o r SS. To d a t e 107 c o r d b l o o d specimens from b l a c k infants have been t e s t e d f o r r e l a t i v e q u a n t i t i e s o f hemoglobins S and F. The mean relative q u a n t i t y o f F was 86.3% * 10.6 S.D. I n 1 5 o f t h e s e specimens S was d e t e c t e d with a mean relative q u a n t i t y o f 6.3% + 2.5 S.D. T h i s t e c h n i q u e p r e s e n t l y can s e r v e as a convenient s c r e e n i n g device w i t h i d e n t i f i c a t i o n o f SS among p o s i t i v e s by t h e more cmbersome agar g e l e l e c t r o p h o r e s i s t e c h n i q u e . Continuing work w i l l compare t h e p e r c e n t concordance between d i a g n o s e s o f AS and SS by these two methods. This study was designed t o determine the origin of SF and its turnover in t h e rat and in man. The concentrotion of SF was measured by radioimmunoassay. 5 9~e in SF during kinetic studies was measured after ultracentrifugal fractionation of plasma on o sucrose gradient, based on the greater molecular weight of ferritin compored with other iron containing components. After injection of heat-treated 5 9~e -~~~ in rats, peak labelling of SF fraction was a t 30 min; other 5 9~e in plosmo, primarily transferrin-bound, was maximally labelled a t 2 h. N o labelling of the SF fraction was detected after injection of 59~e-transferrin in mon or in the rat or after 59~e-hemoglobin-hoptoglobin in the rat. Purified rat liver 59~e-ferritin, injected intravenously in the rat, was removed by t h e liver a t an exponential rate with a half-life of 4 min. NEW ROLE FORThe turnover of SF in man was estimated by a n unusual approach, based on a n 8-fold higher concentration in t h e newborn compored with the adult. SF concentration was measured in 1 0 ml increments of blood removed during 1.5 -2.0 volume exchange transfusions of the newborn for hyperbilirvbinemia. The decrease in serum SF during the 1 h exchanges was slow and of small magnitude. The rote of synthesis of SF was computed t o correspond t o a half-life a s short a s 5 min. The rapid turnover of iron in SF, compared with tmnsferrin iron, suggests a quantitatively important role for SF in t h e transport of iron from the RE cell t o the liver. CESSATION O F THERAPY DURING REMISSION IN CHILDREN WITH ACUTE LYMPHOCYTIC LEUKEMIA (ALL). Joseph V. Simone, RhomesAur, Manuel Verzosa, Omar Hustu, and Donald Pinkel, St. Jude Children's Res. Hosp., Memphis, TN. Combination chemotherapy and preventive central nervous system (CNS) therapy for childhood ALL have resulted in 5-year leukemia-free survival in about one-half of the patients. However, the risk of side effects and fatal infection is significant so chemotherapy was stopped after 2-3 years of complete remission.Therapy was stopped in a total of 123 patients with ALL...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.