Observations on two members of the Swedish family with congenital dyserythropoietic anaemia,type III

Abstract: Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28c (1c = haploid DNA content) and 48c respectively, and some DNA synthesising bi- and multinucleate erythroblasts contained one or more nuclei which were unlabelled with ³H-thymidine. These findings are similar to those in patients with the autosomal recessive type of disease. Thus no major phenotypic differences are yet apparent between cases of CDA, type III, with different patterns of inheritance. Analysis of the surface erythrocyte proteins of the 2 Swedish CDA, type III, patients with monoclonal antibodies recognising Band 3, glycophorins A, B, C and D, Rh, CD44, CD47, CD55, CD58, CD59, Lutheran, Kell, LW and acetylcholinesterase did not reveal any gross abnormality of expression of these proteins. A slightly altered expression of blood group antigens A and H was revealed by the lectins Dolichos biflorus and Ulex europaeus and the Mr of Band 3 as judged by SDS polyacrylamide gel electrophoresis was also slightly reduced, suggesting that there may be minor alterations in the degree of N-glycosylation of some red cell membrane constituents.     

Deep cerebral venous thrombosis presenting as an encephalitic illness.

Three cases of deep cerebral vein thrombosis presenting as encephalitic illnesses are described. Thyrotoxicosis was present in one case, ulcerative colitis in one case and an anticardiolipin antibody was detected in two cases. All three patients were on oestrogen and progesterone. Magnetic resonance imaging and angiography allowed rapid confirmation of the diagnosis and permitted non-invasive follow up of this condition. The first two patients made complete clinical recoveries despite having thalamic infarction, in one case bilaterally, demonstrable radiologically.     

Cephalexin-supplemented Jones-Kendrick charcoal agar for selective isolation of Bordetella pertussis: comparison with previously described media.

Four agar media, Jones-Kendrick (JK) charcoal agar unsupplemented, JK agar supplemented with 0.5 U of penicillin per ml, JK medium supplemented with 2.5 micrograms of methicillin per ml, and JK medium supplemented with 40 micrograms of cephalexin per ml, were evaluated to determine their ability to support growth of Bordetella pertussis, their ability to selectively inhibit normal pharyngeal flora while maintaining growth of B. pertussis, and their stability during storage. Five stock cultures of B. pertussis were plated on each of the media. Penicillin- and cephalexin-supplemented media were more inhibitory for early growth of B. pertussis than was medium supplemented with methicillin. However, after 5 days of incubation at 35 degrees C, all media supported good growth of this organism. When employed to detect B. pertussis in sham specimens, prepared by mixing normal pharyngeal material with each of the five B. pertussis stock cultures, the medium containing cephalexin was judged superior to all other media tested in its combined ability to suppress the growth of normal pharyngeal flora and to allow early detection of Bordetella colonies. All media tested retained their efficacy after 9 weeks of storage at 2 to 8 degrees C.