Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

Summary The marked binding of antibodies specific for 5-methylcytidine to the short arm of chromosome 15 distinguishes this chromosome from the other human acrocentrics. This method has been used to study over 60 individuals including 12 who did not have Down's syndrome, but who did have an extra G-group sized acrocentric chromosome. In six cases the extra chromosome did not show intensive binding of anti-5-methylcytidine. In the other six cases, the extra chromosome contained a 5-methylcytidine rich band at each end indicating that both ends were derived from chromosome 15 and contained centromeric heterochromatin normally present on the short arm of chromosome 15. The duplication of short arm material in the abnormal chromosomes was confirmed in all cases by quinacrine staining, nucleolar organizer (Ag-AS) staining or C-banding. In three cases, the abnormal chromosome appeared to arise from two different chromosomes 15. Several possible mechanisms for the production of the abnormal chromosome are discussed. The individuals with this abnormal chromosome all showed some degree of mental retardation, but few common physical findings.     

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a model human imprinting disorder resulting from altered activity of one or more genes in the 11p15.5 imprinted gene cluster. Approximately 20% of BWS cases have uniparental disomy (UPD) of chromosome 11. Such cases appear to result from mitotic recombination occurring in early embryogenesis and offer a rare opportunity to study mitotic recombination in nonneoplastic cells. We analyzed a cohort of 52 children with BWS and UPD using a panel of microsatellite markers for chromosome 11. All cases demonstrated mosaic paternal isodisomy, and IGF2 and H19 were included in the segment of UPD in all cases. However, the extent of segmental disomy was variable, with no evidence of clustering of the proximal UPD breakpoint. In most cases (92% of those informative) UPD did not involve 11q, but 4 patients demonstrated UPD for the whole of chromosome 11. In contrast to meiotic recombination, the mitotic recombination frequency did not decline near the centromere.     

不同术式治疗早期卵巢颗粒细胞瘤的预后分析

目的：探讨不同术式对早期卵巢颗粒细胞瘤初治患者预后的影响。方法：收集2000年1月～2008年12月我院收治的39例早期卵巢颗粒细胞瘤患者的临床资料,分析不同术式对肿瘤复发和预后的影响。结果：39例患者中,行全面分期手术者20例,其中7例仅予盆腔及腹主动脉旁淋巴结活检而未予淋巴结清扫,所有淋巴结术后病理皆提示无淋巴转移;19例行非全面分期手术。随访期间,全面分期手术组皆无复发,而非全面分期手术组4例复发,两组患者术后3年的复发率分别为0和21%,具有统计学差异（P〈0.05）;非全面分期手术组有1例患者于术后29月死亡,死亡年龄为72岁,全面分期手术组无死亡病例,两组患者的死亡率不具有统计学差异（P〉0.05）。结论：原发性卵巢颗粒细胞瘤罕有淋巴结转移,早期卵巢颗粒细胞瘤行全面分期手术对于明确肿瘤分期、治疗及预后有重要意义,而全面分期手术中行盆腔及腹主动脉旁淋巴结清扫对于肿瘤的复发意义有限,初治患者全面分期手术时可不予淋巴清扫。     

Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing regions are described. In situ hybridization with a battery of biotinylated pericentric repeat probes specific either for individual chromosomes or for groups of chromosomes allowed the identification of the chromosomal origin of these marker chromosomes. There was one example of a marker derived from each of chromosomes 1, 3, 6, 14, 16, 18, 20, 13 or 21, and the X, and there were two examples of markers derived from chromosome 12. One case possessed two markers, one derived from chromosome 6, and one derived from the X. The mechanism of generation of ring marker chromosomes is discussed. Five of seven cases who could be phenotypically assessed were abnormal. Three of these--the first with a ring chromosome derived from chromosome 1; the second with two markers, one derived from chromosome 6 and the other from the X chromosome; and the third with a ring chromosome derived from chromosome 20--each possessed distinctive facies. Additional cases with identified rings may allow the delineation of new chromosomal syndromes.     

The comedo subtype of intraductal carcinoma. Cytologic characteristics.

Smears from 10 intraductal carcinomas of the comedo type without microinfiltration were compared with smears from 10 similar tumors with suspected or proven microinfiltration and smears from 10 invasive comedo carcinomas. Microinvasive tumors could not be separated from purely intraductal cases unless tumor cell infiltration in mammary fat was seen in the smear. The tumor cells in most of the intraductal cases were shed in cohesive groups and clusters, lying in necrotic cellular debris and with few or no scattered, single, dissociated tumor cells. Smears from invasive comedo carcinomas invariably showed tumor cell clusters and scattered, single, dissociated tumor cells, often with atypia in excess of what was seen in the intraductal cases. Also, in most cases the invasive tumors did not show a background of necrotic cellular debris.     

Fine needle aspiration diagnosis of cysticercosis in soft tissue swellings

The cytomorphologic criteria for diagnosing cysticercosis in fine needle aspirates are described. A retrospective analysis of aspirates from 62 cases with subcutaneous swellings in various sites showed the presence of the parasite in 25 cases. In another 31 cases, the aspiration smears contained no larval parts, but did contain an inflammatory reaction (consisting of large numbers of eosinophils and palasading histiocytes) suggestive of a parasitic cyst. Corresponding histologic material from 19 of these cases were diagnostic of cysticercosis in 9 cases and suggestive of cysticercosis in 10. However, histology was diagnostic of cysticercosis in six cases that produced acellular aspirates. These results show that fine needle aspiration cytology can diagnose or suggest cysticercosis in many cases, but may be falsely negative in a few.     

Myelogenous leukemia and electric blanket use

In a case-control study of adult acute and chronic myelogenous leukemia in Los Angeles County, we tested the hypothesis that excess exposure to electromagnetic fields from electric blankets was associated with risk of leukemia. We did this by studying 116 cases of acute myelogenous leukemia (AML) and 108 cases of chronic myelogenous leukemia (CML) along with matched neighborhood controls. The cases and controls were queried as to electric blanket use and the risks computed. For AML the risk was 0.9 (95% CI 0.5-1.6) and for CML the risk was 0.8 (95% CI 0.4-1.6). Cases did not differ from controls by duration of use, year of first regular use, year since last use, or socioeconomic status. Our best estimates of exposure indicate that electric blanket use increases overall exposure to electric fields by less than 50% and magnetic fields by less than 100%. We conclude that there is no major leukemogenic risk associated with electric blanket use in Los Angeles County.     

Nuclear magnetic tomography in the diagnosis of spinal cord cysts]

Magnetic resonance tomography (MRT) was used in examinations of 172 patients with spinal cord abnormalities. Thirty-eight cysts were detected: 25 in syringomyelia, 5 in intramedullary tumors, 4 posttraumatic and 4 postoperational ones. Based on the MRT patterns, two types of syringomyelia were distinguished, the occlusive and idiopathic ones. The size and site of cyst, as shown by the MRT, did not conform to its neurologic symptoms. A characteristic feature of tumorous cysts was a highly intensive signal originating from their contents. Traumatic cysts were detected against the background of diffuse atrophy of the cord. Computer-aided tomography did not give full-value information in such cases and therefore could not be recommended in cases with suspected intramedullary cysts.     

PHYSICIAN ASSISTED SUICIDE: NEW DEVELOPMENTS IN THE NETHERLANDS

Until recently, physician assisted suicide was dealt with on the same basis as active voluntary euthanasia in the Netherlands. Over the last years, several cases relating to assistance in suicide of mental patients did raise specific issues, not addressed so far in the debate on euthanasia. One of these cases resulted in a Supreme Court decision. The paper summarizes this decision and comments on it from a legal point of view.     

Physician assisted suicide: new developments in the Netherlands

Until recently, physician assisted suicide was dealt with on the same basis as active voluntary euthanasia in the Netherlands. Over the last years, several cases relating to assistance in suicide of mental patients did raise specific issues, not addressed so far in the debate on euthanasia. One of these cases resulted in a Supreme Court decision. The paper summarizes this decision and comments on it from a legal point of view.     

Novel neutral glycolipid associated with adult T-cell leukemia and its pathological biochemistry

During attempts to make antibodies cross-reactive with human lymphocytes, we established a monoclonal antibody (VJ-41) from the alloimmunization of mice, that is, B10. A (3R) anti-B10. A (5R). VJ-41 reacted with all cases of freshly isolated adult T-cell leukemia cells (36 cases) but not with cells from other hematological disorders (more than 50 cases). Human T-cell leukemia virus type I healthy carriers also seemed to possess these VJ-41 antigen positive cells. However, in vitro established adult T-cell leukemia cell lines did not show the reactivity with VJ-41. Normal lymphocytes from humans or mice apparently did not carry this antigen, but mitogen activated lymphocytes or some in vitro maintained malignant cell lines of both human and mouse origins showed positive reaction. Having established solid phase radioimmunoassay to detect the VJ-41 antigen in plasma, it was found that healthy human T-cell leukemia virus type I carriers, but not the majority of adult T-cell leukemia patients, predominantly possessed this antigen. Even though immunochemical characterizations of cellular materials were unsuccessful, a certain neutral glycolipid was detected from healthy human T-cell leukemia virus type I carrier plasma by using thin-layer chromatography and immunostaining with the VJ-41 antibody.     

The association of sex ratio anomalies with pyloric stenosis

Published family data were examined for evidence of aberrant sex ratios in relatives of pyloric stenosis index cases. An excess of males over females was found among unaffected members of sibships in which there occurred more than one case of pyloric stenosis. The male excess among affected members of these sibships did not differ from that among index cases without affected sibs. An unusual frequency of spontaneous abortions in these subships, which might account for the observed excess of males, was not observed. No evidence was found of sex ratio anomalies in other classes of relative of pyloric stenosis index cases, whether or not the index cases had affected sibs.     

Clozapine-induced agranulocytosis

Summary An epidemic of agranulocytosis and granulocytopenia occurred in 1975 in conjunction with clozapine treatment of mental patients in Finland. An attempt was made to assess the epidemiologic and genetic factors contributing to the adverse drug effect. The estimated incidence rate in Finland was 2.1/1000 patient-months. This figure could not be compared with rates from other countries because of the inexact nature of the figures reported so far. All 16 cases occurred in seven hospitals in southwestern Finland, whereas the overall hospital net use of the drug was geographically evenly distributed. The difference between the observed and the proportionally expected incidence of cases amongst the hospitals where clozapine was used was statistically significant. The average consumption of the drug did not differ between the hospitals where cases occurred and those where no definite cases could be diagnosed. Six-generation pedigree analyses failed to reveal significant parental consanguinity or genetic kinship between probands. Neither did the birth places of the ancestors of the probands disclose a typical isolate pattern. In conclusion, the cases appeared to be confined to a few hospitals in southwestern Finland. Although a genetic factor is not excluded, we found no evidence in support of a genetic mechanism.     

Plague Meningitis—A Retrospective Analysis of Cases Reported in the United States, 1970-1979

Meningitis caused by Yersinia pestis developed in 6 (6%) of a total of 105 patients with plague reported to the Centers for Disease Control from 1970 to 1979. Five of the six cases occurred in children aged 10 to 15 years. All six patients received antibiotic therapy before meningitis developed, which appeared between the 9th and 14th days after the onset of acute illness in five of the six patients. There were no neurologic sequelae. The antigenic and biochemical profiles of the Y pestis strains isolated from cerebrospinal fluid in the meningitis cases did not differ from those of the Y pestis strains obtained from blood and bubo aspirates in the other 99 patients, and neither did in vitro studies suggest antibiotic resistance. While plague meningitis is an uncommon complication of acute plague infection, physicians in the western United States should be aware that it may develop as much as 14 days after antibiotic therapy for the acute plague infection has been initiated.     

Survival and non-breeding of adult Common Guillemots Una aalge

Annual survival of colour-ringed Common Guillemots Uria aalge with at least 1 year of breeding experience was measured in five study areas on the Isle of May, southeast Scotland from 1982 to 1993. Annual survival averaged 94.9%. There were no significant sex, year or area differences. Between 5% and 10% of the birds known to be alive in any year did not breed, and on average such birds appeared to survive less well (87%) than breeders (95%). Non-breeding did not occur randomly within the population, and 6% of birds accounted for 47% of the cases of non-breeding. It appeared that non-breeding in Common Guillemots on the Isle of May was socially induced with most cases occurring after an individual had lost its site.     

Immunohistochemical detection of the beta4 integrin subunit in pancreatic adenocarcinoma.

The expression of the beta4 integrin subunit protein in pancreatic cancer was investigated using routine immunohistochemical methods on paraffin-embedded archival material. Forty-eight cases of pancreatic ductal adenocarcinoma were immunostained with a monoclonal antibody to the beta4 integrin subunit, and the extent of staining was compared with that seen in non-cancerous pancreatic tissues, including 15 separate cases of chronic pancreatitis and 6 sections from normal pancreas. We found that the beta4 integrin subunit protein was overexpressed in the majority of pancreatic carcinoma cases tested, whereas chronic pancreatitis and normal pancreas did not display substantial levels of expression.     

Genetic analysis of Candida albicans: identification of different isoleucine-valine, methionine, and arginine alleles by complementation.

By using the spheroplast fusion technique as a tool for genetic analysis, we have demonstrated complementation among three of four isoleucine-valine mutants, two of three methionine mutants, and two arginine mutants of independent origin from two different Candida albicans isolates. The two adenine mutants derived from the same parent strain did not complement. Complementation resulted predominantly from heterokaryon formation and, in some cases, from heterozygote formation. In either case, most fusion products were unstable and showed nuclear as well as chromosomal segregation, in a few cases resulting in recombination of parental auxotrophic markers. However, some fusion products were fairly stable.     

Infanticide in wedge-capped capuchin monkeys, Cebus olivaceus

Three cases of infanticide are reported from a well-studied population of wedge-capped capuchin monkeys, Cebus olivaceus, located in the Venezuelan llanos. For each case, we examined the social context and the consequences to the reproductive success of the infanticidal male. In 1 case, the male probably killed his own son. In 2 cases, the male killed an unrelated animal. In all 3 cases, the female conceived in the following breeding season, but in only 1 case did the infanticidal male possibly enhance his own reproductive success. These data are interpreted in the light of current hypotheses for infanticide.     

Temporal characteristics of laboratory screening errors in cervical cytology

OBJECTIVE: To explore the temporal characteristics of laboratory false negative reports in cervical cytology. STUDY DESIGN: The temporal characteristics of 198 false negative cervical cytology cases were compared with those of 750,805 control cases. RESULTS: The false negative rate did not vary significantly by month, day of the week or time of day. The false negative rate was lowest for slides that took between 4 and 5 minutes to screen and increased significantly with screening times that were longer than 5 minutes. The false negative rate did not vary by the number of cases already authorized in a given day. After 40 cases had been authorized in a given day, the false negative rate fell for subsequent cases, but this did not reach statistical significance. The false negative rate was higher during periods when prescreening was performed. CONCLUSION: Further studies of the relationship between time and false negative reports are needed. These would provide an evidence base to help promote safe working practices within laboratories and a more objective setting of maximum daily productivity levels for cytotechnologists.     

Inter-male mating-like behavior in the domesticated house musk shrew, Suncus murinus

In the present study, inter-male interaction of the domesticated house musk shrew was observed in detail under laboratory conditions. In most cases, during inter-male interaction, male house musk shrews exhibited a sequence of behavior items including tail-wagging, following, mounting and thrusting. In the minority of cases, males did not progress beyond following. Offensive behavior was not sufficiently violent to cause injury. It appeared that role assignment was decided by contact manner and vocalization. One of fundamental characters of this animal made a start of following, in which one shrew followed another, who touched and then separated. Role assignment (i.e., which male led and which followed) was decided in status battle. Roles were often reversed during following. Following behavior was maintained by 'polite' mutual contact, and the interaction progressed to thrusting in the majority cases. After role assignment, the variation in contact manner decreased. The ratio of time spent in front-and-behind contact to that spent in multi-lateral contact increased when both males commenced following behavior simultaneously. This ratio was maintained until the following male snapped after he finished thrusting. Even if the following male did not reach thrusting, he mounted the preceding male. The pairs who did not reach thrusting repeated following behavior or mounting. In those cases, while one male concentrated on touching the other to maintain following, the other attempted to divert attention from the following behavior. Male shrews were able to reach thrusting irrespective of sex.