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991.
t(3;17)(q21;q25) in Epstein-Barr virus associated peripheral T-cell lymphoma: a paediatric case 总被引:1,自引:0,他引:1
Frédéric Millot Françoise Brizard Philippe Babin Danielle Canioni Elisabeth Macintyre Guillaume Levard Catherine Gambert Claude Ricour & François Guilhot 《British journal of haematology》1998,100(2):331-334
We describe an immunocompetent 8-year-old boy with a serological profile indicating chronic infection by Epstein-Barr virus (EBV) who developed subcutaneous and pulmonary lesions related to a peripheral T-cell proliferation. No clonal rearrangement of T-cell receptor or immunoglobulin genes was seen. However, the finding of a t(3;17)(q21;q25) in 44 metaphases from one skin lesion demonstrated a clonal origin. We also showed that the proliferative T cells contained EBV genome leading to the diagnosis of EBV-associated peripheral T-cell lymphoma. Further cytogenetic and molecular studies are needed to identify genes implicated in the pathogenesis of this haematological malignancy. 相似文献
992.
Richarda M. de Voer Illja J. Diets Rachel S. van der Post Robbert D.A. Weren Eveline J. Kamping Tessa J.J. de Bitter Lisa Elze Rob H.A. Verhoeven Elisa Vink-Börger Astrid Eijkelenboom Arjen Mensenkamp Iris D. Nagtegaal Marjolijn C.J. Jongmans Marjolijn J.L. Ligtenberg 《Clinical gastroenterology and hepatology》2021,19(8):1642-1651.e8
993.
Cairo MS Davenport V Bessmertny O Goldman SC Berg SL Kreissman SG Laver J Shen V Secola R van de Ven C Reaman GH 《British journal of haematology》2005,128(1):49-58
Thrombocytopenia remains the major dose-limiting toxicity of myelosuppressive chemotherapy in children with solid tumours. Recombinant human interleukin-11 (rhIL-11) has been approved by the Food and Drug Administration as treatment for adults with solid tumours and lymphomas with severe chemotherapy-induced thrombocytopenia. We conducted a phase I/II trial of rhIL-11 following ifosfamide, carboplatin and etoposide (ICE) chemotherapy in children with solid tumours or lymphomas. Patients received ifosfamide 1800 mg/m(2)/d for 5 d, carboplatin 400 mg/m(2)/d for 2 d and etoposide 100 mg/m(2)/d for 5 d with rhIL-11 subcutaneous (s.c.) at 25-125 microg/kg/d on days 6-33. Forty-seven patients with median age 10.5 years (range, 0.7-26 years) were studied. Median days to absolute neutrophil count >/=0.5 x 10(9)/l, platelet count >/=50 x 10(9)/l and platelet transfusions were 23, 18, 18, 16.5 and 18.5, 21, 20, 18 and 3, 3, 4, and 2 d at doses 25, 50, 75 and 100 Schulteg/kg respectively. There was a dose-dependent increase in C(max) (7.6-25.5 ng/ml), AUC(0-rho) (57-209 ng.h/ml) and T(1/2) (4-8.2 h) respectively. There was a 4% incidence of anti-IL-11 antibody formation. Clinically important adverse events to rhIL-11 were papilloedema and periosteal bone formation. In summary, rhIL-11 was well tolerated at doses of =50 microg/kg (maximal tolerated dose) and associated with improved haematological recovery and reduced platelet transfusion requirements compared with historical controls receiving similar ICE chemotherapy without rhIL-11. 相似文献
994.
U. Nowak-Gttl H. G. Koch I. Aschka B. Kohlhase H. Vielhaber G. Kurlemann K. Oleszcuk-Raschke H. G. Kehl H. Jürgens R. Schneppenheim 《British journal of haematology》1996,92(4):992-998
Resistance to activated protein C (APCR), in the majority of cases due to the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of venous thromboembolism. Using an activated thromboplastin time (aPTT) based method in the presence of APC together with a DNA technique based on the polymerase chain reaction, we investigated 37 children with venous (V: n = 19) or arterial (A: n = 18) thromboembolism and 196 age-matched healthy controls for the presence of this mutation. In the control group 10 children were detected to be heterozygous for the factor V Leiden mutation, indicating a prevalence of 5.1%. 10/19 children (52%) with venous thrombosis and 7/18 (38%) patients with arterial thromboembolism showed the common factor V gene mutation. Additional inherited coagulation disorders were found in 1/10 (V: 10%) and 2/7 (A: 28%) APC-resistant patients. Inherited coagulation disorders without APCR were diagnosed in 3/9 (V: 33%) and 2/11 (A: 18%) children. Furthermore, we diagnosed exogenous risk factors in 6/10 (V: 60%) and 2/7 (A: 28%) children with thrombosis and APCR. These data are evidence that APCR combined with exogenous reasons may play an important role in the early manifestation of thromboembolism during infancy and childhood. 相似文献
995.
BACKGROUND AND AIMS: The (13)C-urea breath test ((13)C-UBT) is a reliable non-invasive method of diagnosing Helicobacter pylori infection in adults and children. However, only a few validation studies have been performed on the (13)C-UBT in very young children. The purpose of the present study was to evaluate the diagnostic accuracy of the (13)C-UBT according to age, and to determine the optimal cut-off value in children. METHODS: A total of 307 (13)C-UBT were performed in 274 children. All were compared with the results of endoscopic biopsy-based methods to confirm H. pylori infection. Seventy-five milligrams of (13)C-urea was ingested without a test meal. Two breath samples were collected at 0 and 30 min. The optimal cut-off value of the (13)C-UBT was assessed by determining the sensitivity, specificity, false negative, and false positive results, at cut-off values ranging from 2.0 to 10.0 per thousand. RESULTS: The delta over baseline (DOB) values of the (13)C-UBT showed a significant negative correlation with age in both the H. pylori-positive group (r = -0.309; P = 0.005) and the H. pylori-negative group (r = -0.162; P = 0.015). High false positive results and low specificity were noted in children aged 6 years or less compared with children older than 6 years at a cut-off value of 4.0 per thousand (false positives; 8.3%vs 0.85%, specificity; 89.8%vs 98.8%). After adjusting the cut-off value, the optimal cut-off values were found to be 4.0 per thousand in children older than 6 years and 7.0 per thousand in children aged 6 years or less. CONCLUSIONS: The cut-off value of the (13)C-UBT recommended regardless of age must be adjusted in preschool children to reduce the false positive results. 相似文献
996.
Forestier E Johansson B Gustafsson G Borgström G Kerndrup G Johannsson J Heim S 《British journal of haematology》2000,110(1):147-153
The prognostic impact of acquired chromosome abnormalities was evaluated in a population-based consecutive series of 768 children (< 15 years of age) with acute lymphoblastic leukaemia (ALL). The study cohort included all cases of cytogenetically abnormal childhood ALL diagnosed between 1986 and 1997 in the five Nordic countries (Denmark, Finland, Iceland, Norway and Sweden). The probability of event-free survival (pEFS) for the total cohort was 0. 72 +/- 0.02. When comparing the two treatment periods of July 1986 to December 1991 and January 1992 to December 1997, a better survival was seen for the latter time period (pEFS of 0.69 +/- 0.02 vs. 0.76 +/- 0.02, P = 0.05). Hypodiploidy with less than 45 chromosomes, t(9;22)(q34;q11) and 11q23 translocations were associated with a dismal outcome during the whole study period (pEFS of 0.57 +/- 0.12, 0.41 +/- 0.14 and 0.37 +/- 0.10 respectively). The poor prognostic influence of 11q23 rearrangements seemed to be restricted to infants and older children (> 10 years), who differed significantly from children aged 1-10 years in this regard (P < 0. 01). Patients with t(9;22)-positive ALL seemed to benefit from allogeneic bone marrow transplantation in first remission (P = 0.05). The pEFS for children with t(1;19)(q23;p13)-positive ALL was intermediate (0.63 +/- 0.17), with a tendency to a better outcome for patients with the unbalanced variant der(19)t(1;19). Hyperdiploid ALL patients, subdivided into moderate hyperdiploidy (47-51 chromosomes), massive hyperdiploidy (52-60 chromosomes) and cases in the tri-/tetraploid range (> 60 chromosomes) had the best outcome in the last treatment period (pEFS of 0.81 +/- 0.06, 0.80 +/- 0.04 and 0.88 +/- 0.07 respectively), unless t(1;19), t(8;14), t(9;22) or 11q23 translocations were present. In a multivariate analysis including white blood cell (WBC) count, immunophenotype, age, mediastinal mass, central nervous system involvement and leukaemia karyotype, only WBC and modal chromosome number were shown to be significant independent risk factors (P < 0.01). 相似文献
997.
Familial Risk of Type I diabetes in European Children 总被引:1,自引:1,他引:1
The EURODIAB ACE Study Group The EURODIAB ACE Substudy Study Group 《Diabetologia》1998,41(10):1151-1156
Summary The characteristics of familial Type I (insulin-dependent) diabetes mellitus – that is Type I diabetes in a first degree
relative were investigated for children diagnosed before the age of 15 years using data from an international network of population-based
registries (the Eurodiab Ace network) and from a case-control study (Eurodiab Ace Substudy 2) conducted by eight of the network's centres. Ecological analysis across the 18 centres showed a positive association
between the population incidence rate of Type I diabetes and the prevalence of Type I diabetes in fathers of affected children
(Spearman's rank correlation coefficient r
s = 0.70, p < 0.001). A similar association was observed with the prevalence in sibling (r
s = 0.71, p < 0.001), but the association with prevalence in mothers was weaker and not significant. Pooling results from all centres
showed that a greater proportion of fathers (3.4 %) of affected children had Type I diabetes than mothers (1.8 %) giving a
risk ratio of 1.8 (95 % CI 1.4 to 2.5). Affected girls were more likely to have a father with Type I diabetes than affected
boys (odds ratio 1.56, 95 % CI 1.07 to 2.27), but there was no evidence of a similar finding for mothers or siblings. Children
with disease onset in the 0–4 year age-range were more likely to have an affected father than were children who were older
at onset, and similar although weaker associations were seen in mothers and siblings. This suggests that familial Type I diabetes
patients have a younger age at onset than non-familial patients. In conclusion, a positive association between the prevalence
of familial Type I diabetes and the population Type I diabetes incidence rate was shown and the characteristics of familial
Type I diabetes (younger age at onset and preferential transmission of disease from tather to child and particularly from
father to daughter) were described. [Diabetologia (1998) 41: 1151–1156]
Received: 16 February 1998 and in revised form: 4 May 1998 相似文献
998.
Summary In 231 subjects with Type 1 diabetes mellitus aged 17.6 ± 4.0 years, with a diabetes duration of 8.5 ± 4.9 years at the end
of the study, the prevalence and the development of retinopathy during a period of 5 years were studied. All patients were
examined between one and six times both by ophthalmoscopy and fluorescein angiography. A total of 626 fluorescein angiographies
were evaluated. By the end of the study, 109 out of 231 patients (47%) had developed retinal changes, half of which were classified
as minimal (<5 microaneurysms). Thirty-eight patients (35% of those affected) had background (n = 28) or proliferative (n = 10) retinopathy. In subjects less than 15 years of age and diabetic for less than 5 years, retinal lesions were rare. With
increasing age and duration of diabetes, both the prevalence and severity of retinal changes increased markedly. Life-table
analysis was used to calculate the median individual risk for the development of early retinal changes, which was 9.1 years
of diabetes duration. This risk differed in sub-groups with different ages at onset of diabetes, i. e. 12.1, 8.9 and 6.6 years
(p < 0.0001), with diabetes starting below 4, between 5 and 9, and after 10 years of age respectively. After 18 years of diabetes,
every patient demonstrated at least incipient structural changes. Fluorescein angiography allowed the detection of retinopathy,
on average, four years earlier than with ophthalmoscopy. The median interval between the ‘onset’ of retinopathy, as indicated
by a few microaneurysms, and background retinopathy was 5 years. 相似文献
999.
Desmond F. Duff Charles E. Mullins 《Catheterization and cardiovascular interventions》1978,4(2):213-223
Transseptal left heart catheterization was performed in 80 infants and children with various forms of congenital heart disease. The majority had left heart obstructive lesions. Forty percent were under 5 years of age and less than 20 kg in weight. Uncomplicated cardiac perforation occurred in two patients. The technique is described in detail with emphasis on measures which increase the safety of the procedure for the patient. We conclude that this is a useful technique and in selected patients may be the preferred approach to the left heart. 相似文献
1000.
目的 研究利奈唑胺联合布地奈德治疗儿童肺炎的临床疗效。方法 选择2016年1月-2019年1月安康市中心医院的90例肺炎患儿作为研究对象,采用抽签法随机将患儿分为对照组和观察组,每组各45例。对照组患儿雾化吸入布地奈德气雾剂,500 μg/d,2次/d。观察组在对照组的基础上静脉滴注利奈唑胺注射液,10 mg/kg,2次/d,连续给药10 d,当患儿的病情稳定后,改为口服利奈唑胺片,10 mg/kg。两组疗程均为3周。观察两组患儿的临床疗效、住院时间及症状消失时间,同时比较两组治疗前后的总免疫球蛋白(Ig)E(T-IgE)和嗜酸性粒细胞(EOS)水平。结果 治疗后,观察组的总有效率为95.55%,明显高于对照组的77.78%(P<0.05)。治疗后,观察组的住院时间和发热、肺部湿啰音、咳嗽消失时间明显短于对照组(P<0.05)。两组治疗后EOS水平均显著降低(P<0.05),且观察组治疗后的EOS水平明显低于对照组(P<0.05),TIgE无明显改变。结论 利奈唑胺联合布地奈德对儿童肺炎具有比较确切的治疗效果,能缩短住院时间及症状消失时间,减轻气道炎症性反应,具有一定的临床推广应用价值。 相似文献