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81.
Suzan F Guasch G Terre C Garcia I Bastie JN Maarek O Ribaud P Gluckman E Daniel MT Pébusque MJ Castaigne S 《British journal of haematology》2003,121(2):312-314
A rare atypical myeloproliferative disorder (aMPD) associated with chromosomal translocations involving the short arm of chromosome 8, region p11-p12 has been described. In most patients, the cytogenetic abnormality is a t(8;13)(p12;q12) that fuses fibroblast growth factor receptor 1, the 8p12 key gene, to FIM/ZNF198 gene. Prognosis is poor with frequent evolution to acute myeloid leukaemia within 1 year of diagnosis. We report a new patient with aMPD with a t(8;13) translocation. Complete haematological, cytogenetic and molecular remission was demonstrated 39 months after allogeneic bone marrow transplantation. This is the first report to demonstrate a molecular remission in this disorder. 相似文献
82.
83.
Kobayashi E D'Agostino MD Lopes-Cendes I Andermann E Dubeau F Guerreiro CA Schenka AA Queiroz LS Olivier A Cendes F Andermann F 《Epilepsia》2003,44(8):1080-1084
PURPOSE: To describe postoperative outcome in patients with familial mesial temporal lobe epilepsy (FMTLE). METHODS: We studied FMTLE patients who underwent surgical treatment for refractory seizures. FMTLE was defined when at least two individuals in a family had a clinical EEG diagnosis of MTLE. Preoperative investigation included magnetic resonance imaging (MRI), interictal/ictal EEGs, and neuropsychological evaluation. We used Engel's classification for postoperative outcome. RESULTS: To date, 20 FMTLE patients have been operated on, with 1.6 to 9.8 years of follow-up (mean, 5.5 years). Hippocampal atrophy (HA) and other signs of mesial temporal sclerosis (MTS) were present in 18 patients (15 unilateral). Seizures were recorded in 19 patients. Seventeen (85%) patients are in class I. Two patients had normal hippocampal volumes (HcV): one (5%) is in class II and the other (5%) in class IV (extratemporal seizures developed after surgery). One (5%) patient had bilateral HA and is in class III. Qualitative histopathology showed MTS with different degrees of severity. CONCLUSIONS: Refractory FMTLE patients have good surgical outcome when unilateral or clearly asymmetric HA is identified. Preoperative investigation should be the same as that in patients with sporadic refractory MTLE. 相似文献
84.
Bonilha L Kobayashi E Castellano G Coelho G Tinois E Cendes F Li LM 《Epilepsia》2003,44(12):1546-1550
Mesial temporal lobe epilepsy (MTLE) is frequently associated with refractory seizures and pathologic features of hippocampal sclerosis (HS). Quantitative magnetic resonance imaging (MRI) techniques can improve the detection and quantification of HS. The objective of this study was to evaluate whether MRI texture analysis can detect hippocampal abnormalities in patients with pathologically proven HS. METHODS: Nineteen consecutive patients who underwent surgery for refractory unilateral MTLE and had HS diagnosed on histopathology (12 right and seven left) had their preoperative MRIs evaluated. We performed texture analysis in 3-mm coronal T1-IR MRIs, focusing on the hippocampal head, by using the software MAZDA. Data were compared with those of a group of 78 normal hippocampi from 39 healthy adult volunteers through multivariate analysis of variance and selection of the most significant texture parameters. RESULTS: Overall, almost all parameters of texture could discriminate the group of hippocampi with HS and the group of contralateral hippocampi from the group of normal hippocampi, but the post hoc comparison showed no differences between HS and contralateral hippocampi. CONCLUSIONS: These results provide evidence of texture alteration in MRIs of hippocampi with HS and corroborate the hypothesis of bilaterality of hippocampal damage in patients with MTLE, but further studies are needed to investigate the lateralization power of texture analysis. 相似文献
85.
Leite Mde F Aoun NB Borges MS Magalhães ME Christiani LA 《Arquivos brasileiros de cardiologia》2003,81(1):89-92, 85-8
Marfan's syndrome is an inherited disorder of the connective tissue. Cardiologic manifestations, especially aortic dilation, are important causes of morbidity and mortality in the clinical course of the disease in adults and teenagers. In children, the presence of aortic aneurysm and its dissection or rupture is rare, occurring in patients with genetic mutation of the fibrillin gene but not in those who have the familial form of the disease. We describe here 2 patients, from the same family (siblings), diagnosed with gigantic aortic aneurysm early in infancy, one of them successfully undergoing surgery. 相似文献
86.
Mitochondrial electron transport chain function is enhanced in inspiratory muscles of patients with chronic obstructive pulmonary disease 总被引:2,自引:0,他引:2
Ribera F N'Guessan B Zoll J Fortin D Serrurier B Mettauer B Bigard X Ventura-Clapier R Lampert E 《American journal of respiratory and critical care medicine》2003,167(6):873-879
In chronic obstructive pulmonary disease, inspiratory muscles face increased resistive and elastic workloads and therefore increased energy requirements. The adaptive response of these muscles to this higher energy demand includes increased oxidative enzymes and changes in contractile protein expression but the consequences on mitochondrial function and energy metabolism have not been assessed so far. We investigated the in situ properties of the mitochondria of costal diaphragm and external intercostal muscles using the skinned fiber technique in 9 emphysematous and 11 age-matched control patients. Biopsies obtained during thoracic surgery were placed in an oxygraphic chamber to measure maximal oxygen uptake. We observed that the maximal oxidative capacity of diaphragm and external intercostal muscles increased significantly in the emphysematous group compared with the control group (+135 and +37%, respectively). Significant correlations were found between the maximal oxidative capacity and patients' pulmonary indexes of obstruction (diaphragm: r = -0.637, intercostal: r = -0.667, p < 0.005) and hyperinflation (diaphragm: r = 0.639, p < 0.003, intercostal: r = 0.634, p < 0.01). Slow myosin heavy chain isoform increased in the diaphragm of the emphysematous group, with significant relationships between indexes of obstruction and hyperinflation and activities of biochemical mitochondrial markers. Thus, severe emphysema was associated with increased mitochondrial capacity and efficiency in the inspiratory muscles, supporting an endurance training-like effect. 相似文献
87.
Galvão MA Lamounier JA Bonomo E Tropia MS Rezende EG Calic SB Chamone CB Machado MC Otoni ME Leite RC Caram C Mafra CL Walker DH 《Cadernos de saúde pública / Ministério da Saúde, Funda??o Oswaldo Cruz, Escola Nacional de Saúde Pública》2002,18(6):1593-1597
This article describes a serological survey for rickettsiosis in the county of Novo Cruzeiro, Minas Gerais State, Brazil, in 1998, testing schoolchildren and dogs. Sera included 331 samples from schoolchildren from an endemic area and 142 samples from schoolchildren from a non-endemic area in the county. All children examined were healthy and had not reported clinical symptoms of Brazilian spotted fever prior to the serological survey. Some 35 children in the endemic area were reactive to Rickettsia rickettsiiby indirect fluorescent antibody (IFA) with a titer of 1:64, corresponding to 10.6%. Sera from 73 dogs were tested, showing seroreactivity (IFA 1:64) to Rickettsia rickettsi, Ehrlichia chaffeensis, and Ehrlichia canisin 3 (4.11%), 11 (15.07%), and 13 (17.81%), respectively. The results in schoolchildren and the presence of canine seroreactivity to Ehrlichiaspecies that are potentially pathogenic to humans suggests the risk of transmission of other Rickettsiaein the study area. 相似文献
88.
This study analyzes the content of the scientific production of three national pediatric journals from 1990 to 1999, concerning pregnancy among adolescents and identifies the justifications for this occurrence and the follow-up suggested. The following variables were investigated according to their frequency: journal; year of publication; authors background; keywords; ideas associated with the subject in question; methodology. A qualitative approach enabled an analysis of the pediatric explanations and recommendations concerning this theme. Among 1437 papers, only 1.1% were related to the subject. Controversies regarding the importance of the biological risk involving the adolescents' lives were observed in the papers. In sum, the authors point out the need for an interdisciplinary perspective in approaching this theme, considering the complexity of the aspects involved in the pregnancy among adolescents. 相似文献
89.
Echaniz-Laguna A Zoll J Ribera F Tranchant C Warter JM Lonsdorfer J Lampert E 《Annals of neurology》2002,52(5):623-627
Evidence implicating mitochondrial dysfunction in the central nervous system of patients with sporadic amyotrophic lateral sclerosis (SALS) has recently been accumulating. In contrast, data on mitochondrial function in skeletal muscle in SALS are scarce and controversial. We investigated the in situ properties of muscle mitochondria in patients with early-stage SALS and sedentary (SED) controls using the skinned fiber technique to determine whether respiration of muscle tissue is altered in early-stage SALS in comparison with SED. Musculus vastus lateralis biopsies were obtained from 7 SED group members and 14 patients with early-stage SALS (mean disease duration, 9 months). Muscle fibers were permeabilized with saponine and then skinned and placed in an oxygraphic chamber to measure basal (V(0)) and maximal (V(max)) adenosine diphosphate-stimulated respiration rates and to assess mitochondrial regulation by adenosine diphosphate. Muscle oxidative capacity, evaluated with V(max), was identical in patients in the SALS and SED groups (V(0): SALS, 1.1 +/- 0.1; SED, 0.8 +/- 0.1, micromol 0(2). min(-1). gm(-1)dw and V(max): SALS, 3.1 +/- 0.3; SED, 2.5 +/- 0.3, micromol 0(2). min(-1). gm(-1)dw). This study shows an absence of large mitochondrial damage in skeletal muscle of patients with early-stage SALS, suggesting that mitochondrial dysfunction in the earlier stages of SALS is almost certainly not systemic. 相似文献
90.
Samuel Tyano Gil Zalsman Hadas Ofek Ilanan Blum Alan Apter Luisa Wolovik Leo Sher Eliane Sommerfeld Daniella Harell Abraham Weizman 《European neuropsychopharmacology》2006,16(1):49-57
To evaluate the relationship between plasma serotonin (p5-HT) levels and psychometric measures in suicidal adolescents vs. controls, 211 adolescents from three sites in Israel were divided into four groups: suicidal psychiatric inpatients (n=35); non-suicidal psychiatric inpatients (n=30); adolescents referred to the emergency room (ER) due to a suicide attempt (n=51); and a community-based control group from 4 high schools in the same catchment areas (n=95). All were interviewed and assessed for violence, aggression, depression, impulsivity, anger, anxiety, and p5-HT. p5-HT levels were significantly lower in the control group compared to all other groups. A significant negative correlation was found between p5-HT level and suicidal behavior severity among the suicidal inpatients. p5-HT did not discriminate between the psychiatric diagnostic categories and was significantly lower in ER violent compared to non-violent subjects. Gender, depression, and anger were associated with suicidal behavior in all four groups. Beck Depression Inventory (BDI) scores together with p5-HT levels discriminated between healthy controls and other groups. p5-HT level in combination with some of the psychometric scales may serve as a safe and inexpensive peripheral marker of psychopathology, and may help to differentiate between sub-populations of suicidal adolescents. The biological mechanism behind the serotonin dysregulation in suicidal adolescents requires further investigation. 相似文献