Terminal acute myelogenous leukemia in a patient with congenital agranulocytosis

Congenital agranulocytosis terminating in acute myelogenous leukemia has been previously reported in only two cases of adolescent males. We describe the clinical and laboratory features of a 13-year-old male with congenital agranulocytosis, treated with G-CSF with initial good neutrophil response, who subsequently developed acute myeloid leukemia. This rare complication may define a preleukemic subset of patients for whom G-CSF therapy is ineffective. The diagnostic challenges of this case are presented.     

Hot-Water Epilepsy: A Variant of Reflex Epilepsy in Southern India

"Hot water epilepsy" (HWE), precipitated by a bath or shower in hot water, has been described infrequently in the literature. We report 279 cases of HWE that were seen between 1980 to 1983 in Bangalore, South India. We found HWE to be more common in children, with cases more frequent among male than female patients (2.6:1). Complex partial seizures constituted the main clinical presentation (67.0%); HWE accounted for 4.4% of all complex partial seizures and generalize tonic-clonic seizures seen at our center during the 1980-1983 period. Although prognosis seems favorable 25.4% of our patients developed nonreflex epilepsy within 1-3 years. They were managed with antiepileptic drugs and the use of lukewarm water for bathing.     

Cytogenetic diagnosis using midtrimester fetal blood samples: Application to suspected mosaicism and other diagnostic problems

Cytogenetic studies on fetal blood cells obtained at 18–25 weeks gestation have provided information for decision making in 25 cases identified as being at high risk of having an abnormal fetus. In particular, in the 21 cases studied to consider the possibility of true mosaicism, confirmation in fetal blood was obtained in three, one of which presented as a pseudomosaic on the original amniotic fluid cell study. Fetal blood was also informative in two cases (one positive and the other negative) in which a diagnosis of the fragile X syndrome was being considered. Furthermore, when high risk pregnancies presented late in gestation (21–24 weeks), these methods allowed for a rapid cytogenetic diagnosis. The procedure has proved useful in most of these cases since the couples involved had indicated that they would probably have terminated the pregnancy without the reassurance of normal fetal lymphocyte studies. Since the technique carries a much higher risk of pregnancy loss than does amniocentesis, its use should only be considered when there are compelling indications.     

Classification of Breast Masses Using Selected Shape,Edge-sharpness,and Texture Features with Linear and Kernel-based Classifiers

Breast masses due to benign disease and malignant tumors related to breast cancer differ in terms of shape, edge-sharpness, and texture characteristics. In this study, we evaluate a set of 22 features including 5 shape factors, 3 edge-sharpness measures, and 14 texture features computed from 111 regions in mammograms, with 46 regions related to malignant tumors and 65 to benign masses. Feature selection is performed by a genetic algorithm based on several criteria, such as alignment of the kernel with the target function, class separability, and normalized distance. Fisher's linear discriminant analysis, the support vector machine (SVM), and our strict two-surface proximal (S2SP) classifier, as well as their corresponding kernel-based nonlinear versions, are used in the classification task with the selected features. The nonlinear classification performance of kernel Fisher's discriminant analysis, SVM, and S2SP, with the Gaussian kernel, reached 0.95 in terms of the area under the receiver operating characteristics curve. The results indicate that improvement in classification accuracy may be gained by using selected combinations of shape, edge-sharpness, and texture features.     

Monoclonal antibodies against human granulocytes and myeloid differentiation antigens

Monoclonal antibodies (MCA) were obtained by immunizing BALB/c mice with 99% pure granulocytes from normal donors or with a whole leukocyte suspension obtained from a chronic myelogenous leukemia (CML) patient, and then fusing the mouse spleen cells with a 315–43 myeloma cell clone. Four MCA were selected and studied using ELISA, immunofluorescence, cytotoxicity assays, and FACS analysis. Antibodies 80H.1. 80H.3. and 80H.5 (from normals) and 81H.1 (from CML) detected antigens expressed on neutrophils. Antibodies 80H.1 and 80H.3 (lgG) also reacted with monocytes but not with other blood cell subsets. Antibodies 80H.5 and 81H.1 (lgM) were cytotoxic and reacted strongly with most of the cells of the neutrophil maturation sequence. i.e., myeloblasts, promyelocytes, myelocytes, and mature granulocytes. Antibodies 80H.5 and 81H.1 also inhibited BFU-GM and CFU-E. Antigens recognized by 80H.3. 80H.5, and 81H.1 were expressed both on a proportion of cells from HL.60, KG.1, ML.1, and K562 myeloid cell lines, and on a proportion of blast cells isolated from patients with acute myelogenous leukemia. They were not found on lymphoid cell lines or lymphoid leukemia cells. These MCA recognize either late differentiation antigens expressed on mature neutrophils and monocytes (80H.1 and 80H.3) or early differentiation antigens (80H.5 and 81H.1) specific to the granulocytic lineage. They may be useful for a better definition of those antigens specific to hematopoietic stem cells and their relationship with normal or neoplastic hematopoiesis.     

Laboratory diagnosis of variant Creutzfeldt-Jakob disease

The neuropathological and biochemical features of 33 cases of variant Creutzfeldt-Jakob disease (vCJD) diagnosed up to the end of 1998 are analysed in relation to the 646 cases of suspected CJD referred to the CJD Surveillance Unit laboratory from 1990 to 1998. Morphological studies of the central nervous system, lymphoid tissues and other organs were accompanied by immunocytochemistry; Western blot analysis of PrPRES was performed on frozen brain tissue. The findings were analysed in relation to clinical and genetic data. The pathology of vCJD showed morphological and immunocytochemical characteristics distinct from other cases of CJD. PrP accumulation was widespread in lymphoid tissues in vCJD, but was not identified in other non-neural tissues. PrPRES accumulation in vCJD brain tissue showed a uniform glycotype pattern distinct from sporadic CJD. All analysed cases of vCJD were methionine homozygotes at codon 129 of the PrP gene. No evidence currently exists to suggest that cases of CJD diagnosed in individuals who are MV or VV at codon 129 of the PrP gene represent 'human bovine spongiform encaphalopathy (BSE)'. Continued surveillance is required to further investigate this possibility, with the need to investigate autopsy tissues from suspected cases by histological and biochemical techniques.     

Prevalence of human T-Cell lymphotropie virus infections in Germany

The extent of human T-cell lymphotropic retorvirus HTLV-I and HTLV-II infections in the general population in central Europe has not been investigated fully. Two hundred forty-eight thousand blood donors from southern Germany were examined serologically for antibodies to the human lymphotropic retroviruses HTLV-I and HTLV-II: 0.021% were confirmed postive and 0.056% were “indeterminate”. A limited number of seropositives and “indeterminate” samples were analyzed by polymerase chain reaction (PCR): the seropositives were confirmed as positive and 43% of the “indeterminate” samples were PCR-positive. The range of 0.021% HTLV-positives in 248,000 donors, i.e. about two in 10,000 individuals, mirrors closely the published data for the United States. © 1994 Wiley-Liss, Inc.     

大Y携带者不良孕产史与胚胎非整倍体率增高的关系

目的探讨1例有不良孕产史的大Y携带者的胚胎异常情况。方法1对有2次自然流产史的夫妇,男方染色体核型为46,XY,Yqh ,常规超促排卵和卵母细胞胞浆内单精子注射,受精后第3天和第4天进行胚胎活检,获取分裂球,采用18,X,Y三色着丝粒探针进行荧光原位杂交分析(FISH),第5天移植正常胚胎。异常胚胎及废弃胚胎所有分裂球第6天再次FISH确定胚胎核型。结果患者获卵19个,对其中13个M2期卵母细胞进行ICSI,12个受精,分裂11胚。10个胚胎获得明确诊断,其中4个正常胚胎,6个异常胚胎,异常发生率达60%。5个为女胚,其中1个正常核型,4个异常胚胎中2个为无序分裂,2个为嵌合体;5个为男胚,3个正常,2个异常胚胎中1个为无序分裂,1个为嵌合体。对染色体正常的1个女胚进行宫腔内移植,未获得妊娠。结论该例大Y患者胚胎非整倍体发生率增高可能是导致其不良孕产史的原因。     

Postmortem Diagnosis of Acute Megakaryocytic Leukemia Usefulness of lmmunohistochemistry and Tissue Hemogram

An autopsy case of acute megakaryocytic leukemia (AMKL) is presented. The bone marrow was hypercellular with proliferation of three lineages, especially megakaryocytes. Immunohistochemical examination revealed many platelet glycoprotein IIb/IIIa (GP IIb/IIIa)- positive blast cells in bone marrow. The proportion of the blasts was 26.4% by tissue hemogram. GP IIb/IIIa-positive blasts and megakaryoblasts were deposited massively in lymph nodes. lmmunohistochemistry against GP IIb/IIIa and tissue hemograms by paraffin section are needed to diagnose AMKL by postmortem examination, since the identification of ultra-structural platelet peroxidase in autopsy materials is difficult.