Studies on the blood of a Co (a−b−) proposita and her family

The serum of a pregnant woman whose red cells typed as Co(a-b-) contained an alloantibody that, at the time of the infants delivery, was hemolytic in vitro and had a titer of 32,000 by the antiglobulin test. This antibody, which reacted with cells of all Colton-phenotypes except the proposita's own cells, showed very weak reactions with other Co(a-b-) cells and therefore cannot be called anti-Co3. The red cells of the proposita may carry a very weak Co3 antigen. No other persons of the Co(a-b-) phenotype were found in her members, among three of the four generations tested, suggested that an inhibitor gene may be responsible for the unusual Colton phenotypes in this family. The proposita's infant required one exchange transfusion with red cells obtained from the proposita. Red cells from 40,000 donors reacted with the serum of the proposita.     

Studies on the blood of an MiV homozygote

An individual, whose parents are third cousins, has been shown to be homozygous for the rare Mi.V. condition. The proposita's red blood cells type as M−, N+(weak), S−, s+(strong), U+, Mi(a−), Vw−, Hil+; Wr(a− b−). The cells react, albeit less strongly than most other samples, with anti-Ena. However, from studies on the red blood cells of the proposita and on those of another person of the En(a+), Wr(a−b−) phenotype, it is apparent that the term "anti-Ena" actually describes a number of antibodies of differing specificities. Inhibition studies with sialoglycoprotein (SGP) isolates, and tests on protease-modified red blood cells illustrate some of the differences in specificity. Biochemical analyses of the SGPs of the red blood cells of the MiV homozygote and those of her parents confirm that the Mi.V condition is associated with the absence of normal MN SGP (alpha) and normal Ss SGP (delta), the appearance of a hybrid SGP molecule comprised of a portion of the MN SGP at its NH2 terminal end, and a portion of the Ss SGP at its C terminal end.     

Studies on the blood of an MiV/Mk proposita and her family

An individual (J-1) was shown to be heterozygous for the MiV and Mk genes. Her red cells typed as M+(weak), N−, S−, s+(strong), U+, Hil+, Wr(a-b-), En(a+weak). Polyacrylamide gel electrophoresis analysis of her red cell membranes revealed absence of PAS-staining bands corresponding to normal MN and Ss sialoglycoprotein (SGP), and presence of a hybrid MNSs SGP [(alpha-delta)MiV] similar but not identical to that reported for an MiV homozygote. However, J-1 cannot be homozygous for MiV since the red cells of two of her children are Hil- and s-, carry only a single dose of M antigen, and have a sialic acid content that is consistent with the presumption that they are Mk heterozygotes. J-1's hybrid MNSs SGP is considered to be gene-fusion product resulting from unequal crossover between a normal alpha M and delta gene, and her red cells lack that portion of the Ena antigen that is resistant to ficin. Her hybrid MNSs SGP differs, therefore, from that reported for the MiV homozygote, which probably arose from unequal crossover between alpha N and delta genes. Further, the red cells of the MiV homozygote carry the ficin-resistant Ena determinant.     

The Dc(G48)e(s) haplotype is frequent among the Dce haplotypes within a white population

BACKGROUND: The absence of hybrid Rhesus boxes denotes an RHD homozygous status and helps to detect the presence of Dce haplotypes instead of dce. RHCE exon 1 C48, characteristic of RHC alleles, and RHCE exon 5 G733, responsible for VS antigenicity, have been noted in many RHce alleles but it was not clearly established whether they occurred in the same allele and/or cosegregate together with RHD. STUDY DESIGN AND METHODS: Samples from 148 white trios (father, mother, and child) were studied. Rh phenotype was performed by hemagglutination. Hybrid Rhesus box, RHCE exon 1 G48C, RHCE exon 5 C733G, and RHC intron 2 polymorphisms were analyzed by polymerase chain reaction. Haplotypes were determined considering serologic, molecular, and segregation data. RESULTS: RHCE exon 1 C48 and RHCE exon 5 G733 were present in RHce alleles that cosegregated with RHD forming Dce haplotypes. Both transversions were not frequently found in the same RHce allele. Of the 33 Dce haplotypes, 16 (48.5%) had a C at position 48 [Dc(C48)e], 11 (33.3%) had a G at position 48 with a G at position 733 [Dc(G48)e(s)], 5 (15.2%) had a G at position 48 [Dc(G48)e], and 1 (3.0%) had a C at position 48 with a G at position 733 [Dc(C48)e(s)]. CONCLUSIONS: The results show four molecular backgrounds for the Dce haplotype and reflect the contribution of African alleles to the genetic pool of the population under study. The molecular characterization of Dce and its frequency distribution may develop a better understanding of the phylogeny of Rh haplotypes.     

Studies on the blood of an MsHe/MSu proposita and her family. Serological evidence that Henshaw-producing genes do not code for the 'N' antigen

The serum of a black woman has been found to contain a potent alloanti- N that reacted in direct agglutination tests with the 'N' antigen carried on Ss-active sialoglycoprotein. Thus far, such antibodies have been observed only in the sera of MSu/MSu individuals. However, our proposita had red cells that lacked 'N'. Her blood type was M+, N-, S-, s+, U+, He+. Results of family studies indicate that she is of the genotype MsHe/MSu. Our findings are consistent with recently reported data on the structure of the Henshaw antigen, which is located on a Ss- active sialoglycoprotein that does not carry 'N'.     

Bone marrow transplantation: support of the patient and his/her family

Bone marrow transplantation (BMT) has evolved over the last decade from a controversial research procedure to a standard therapeutic modality, becoming an important innovative treatment for hematological malignancies, solid tumors, immunodeficiency diseases and metabolic disorders. historically in research and clinical literature, the BMT procedure is divided into several stages, each accompanied by particular emotional tones and psychological issues. In providing care for transplant recipients, donors, and families, caregivers must be familiar with the psychological stages of the procedure, the psychological themes such as body image, and the patient's mechanisms of coping with the stress of such protocols. BMT's complex regimens of high-dose chemotherapy and total-body irradiation, germ-free environments, graft-versus-host disease, and total parenteral nutrition can precipitate significant psychological sequelae in some patients with acute and long-term consequences. In response to their illness, transplant patients may also develop emotional disturbances of anxiety, depression, agitation, and non-compliance. This paper will address the psychological care of the patient, donor and family from pre-BMT consultation, through informed consent, hospitalization and convalescence. Various psychotherapeutic, pharmacological and behavioral interventions will be briefly described. Finally, areas of research in quality of life after BMT and factors that may predict BMT adjustment and outcome will be explored. We hope this brief paper will familiarize the reader with this psychologically intriguing field and will provide a departure point for future reading, study, research, and patient/family care.Presented as an invited lecture at the 4th International Symposium: Supportive Care in Cancer, St. Gallen, Switzerland, 24–27 February 1993     

一例稀有血型JK(a-b-)表型家系调查分析

本研究旨在检测Kidd血型系统的稀有JK(a-b-)表型的先证者及其家系中其他个体的表型及基因型,探讨本例JK(a-b-)表型的分子机理,分析遗传背景,为稀有血型个体输血治疗寻找相合供者提供科学依据。采用4 mol/L尿素溶血试验,筛选JK(a-b-)表型先证者,并对其进行家系调查。用血清学方法确认表型;用PCR-SSP方法检测基因型,并对JK基因外显子4-11及其侧翼的区域扩增后测序,分析序列信息。结果表明,先证者及其哥哥具有相同的表型JK(a-b-)和基因型Jkb/Jkb;其父母的表型为JK(a+b-),基因型为Jka/Jkb;妹妹的表型和基因型分别为JK(a+b-)和Jka/Jka。对外显子及其侧翼测序发现,先证者及其哥哥的内含子5的3’端拼接接受位点碱基g>a突变,其父母的该位点均为a/g杂合,其妹妹的该位点没有突变;内含子3(外显子4侧翼)nt-99位的碱基为g,其父母的该位点均为g/a杂合,其妹妹的该位点是a。结论:先证者及其哥哥具有相同的表型JK(a-b-)和基因型Jkb/Jkb,JK基因内含子5的3’端拼接接受位点的g>a突变可能是造成其JK(a-b-)表型的原因之一;家系中内含子3的nt-99位的碱基也具有多态性(ncbi:rs8090908),该位点多态性是否与JK(a-b-)表型相关值得进一步研究。本例家系Kidd血型系统符合显性遗传规律。对于稀有JK(a-b-)表型个体的家系,尤其是同胞兄妹进行血型调查,发现表型和基因型均相同的个体可能性大。     

Expression of the vascular endothelial growth factor (VEGF) family in human endometrial blood vessels

Endometrial regrowth is associated with intense angiogenesis, for which vascular endothelial growth factor-A (VEGF-A) is an important regulator. However, the expression of other members of the VEGF family is less well documented. The aim of this study was to localize members of the VEGF family (VEGF-A,-B and-C), and their receptors (VEGFR1, 2 and 3) in human endometrial blood vessels. Endometrial biopsies collected from four healthy and fertile women were used for immunohistochemistry assessments. Co-localization of VEGF-family proteins with CD34 stained endothelial structures was determined by image analysis. We demonstrate here the marked expression of VEGF-A as well as VEGFR2 and 3 in capillaries. Arterioles expressed VEGF-B, VEGFR1, 2, and 3 moderately and VEGF-A variably. Venules expressed only VEGFR3 markedly. In contrast, VEGF-C was not expressed in the arterioles, but moderately in the capillaries and weakly in the venules. VEGF-B was expressed in all blood vessels; however, VEGF-B was weakly expressed in capillaries and arterioles and moderately expressed in venules and arterioles. Thus, expression of VEGF-A, B and C and VEGF receptors 1-3 in endometrial blood vessels indicates a highly structured involvement of VEGF in the regulation of angiogenesis in the human endometrium.     

Expression of the vascular endothelial growth factor (VEGF) family in human endometrial blood vessels

Endometrial regrowth is associated with intense angiogenesis, for which vascular endothelial growth factor-A (VEGF-A) is an important regulator. However, the expression of other members of the VEGF family is less well documented. The aim of this study was to localize members of the VEGF family (VEGF-A, -B and -C), and their receptors (VEGFR1, 2 and 3) in human endometrial blood vessels. Endometrial biopsies collected from four healthy and fertile women were used for immunohistochemistry assessments. Co-localization of VEGF-family proteins with CD34 stained endothelial structures was determined by image analysis. We demonstrate here the marked expression of VEGF-A as well as VEGFR2 and 3 in capillaries. Arterioles expressed VEGF-B, VEGFR1, 2, and 3 moderately and VEGF-A variably. Venules expressed only VEGFR3 markedly. In contrast, VEGF-C was not expressed in the arterioles, but moderately in the capillaries and weakly in the venules. VEGF-B was expressed in all blood vessels; however, VEGF-B was weakly expressed in capillaries and arterioles and moderately expressed in venules and arterioles. Thus, expression of VEGF-A. B and C and VEGF receptors 1-3 in endometrial blood vessels indicates a highly structured involvement of VEGF in the regulation of angiogenesis in the human endometrium.