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91.
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Berti SL Nasi GM Garcia C Castro FL Nunes ML Rojas DB Moraes TB Dutra-Filho CS Wannmacher CM 《Metabolic brain disease》2012,27(1):79-89
Phenylketonuria is characterized by a variable degree of mental retardation and other neurological features whose mechanisms
are not fully understood. In the present study we investigated the effect of intrahippocampal administration of phenylalanine,
isolated or associated with pyruvate or creatine, on rat behavior and on oxidative stress. Sixty-day-old male Wistar rats
were randomly divided into 6 groups: saline; phenylalanine; pyruvate; creatine; phenylalanine + pyruvate; phenylalanine +
creatine. Phenylalanine was administered bilaterally in the hippocampus one hour before training; pyruvate, at the same doses,
was administered in the hippocampus one hour before phenylalanine; creatine was administered intraperitoneally twice a day
for 5 days before training; controls received saline solution at same volumes than the other substances. Parameters of exploratory
behavior and of emotionality were assessed in both training and test sessions in the open field task. Rats receiving phenylalanine
did not habituate to the open field along the sessions, indicating deficit of learning/memory, but parameters of emotionality
were normal, not interfering in the habituation process. Pyruvate or creatine administration prevented the lack of habituation
caused by phenylalanine. Pyruvate and creatine also prevented alterations provoked by phenylalanine on lipid peroxidation,
total content of sulfhydryls, total radical-trapping antioxidant potential and total antioxidant reactivity. The results suggest
that the behavioral alterations provoked by intra-hippocampal administration of phenylalanine may be caused, at least in part,
by oxidative stress and/or energy deficit. If this also occurs in PKU, it is possible that pyruvate and creatine supplementation
to the phenylalanine-restricted diet might be beneficial to phenylketonuric patients. 相似文献
93.
Fabrice Airaud S��bastien K��ry Isabelle Valo Ingrid Maury Dominique Bonneau Olivier Ingster St��phane Bezieau 《World journal of gastroenterology : WJG》2012,18(39):5635-5639
We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers: a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. The mutation identified in his blood and buccal cells, c.1771delG, p.Asp591Ilefs*25, appears to be a de novo event, as it was not transmitted by either of his parents. This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far. Furthermore, the discordant results observed between replication error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome. 相似文献
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95.
Sokol H Beaugerie L Maynadié M Laharie D Dupas JL Flourié B Lerebours E Peyrin-Biroulet L Allez M Simon T Carrat F Brousse N;for the CESAME Study Group 《Inflammatory bowel diseases》2012,18(11):2063-2071
BACKGROUND: It remains to be shown whether inflammatory bowel disease (IBD) is associated with an increased risk of primary intestinal lymphoproliferative disorders (PILD). We assessed this risk in the CESAME French nationwide prospective observational cohort. METHODS: In all, 680 gastroenterologists enrolled 19,486 patients with IBD (Crohn's disease in 60.3%) from May 2004 to June 2005. Follow-up ended on 31 December 2007. Available biopsy samples and surgical specimens from patients with PILD (n = 14) were centralized for review. The reference incidence of PILD in the general population was obtained from the C?te d'Or registry and was used as a comparator to assess the standardized incidence ratio (SIR). The influence of thiopurine exposure was explored in a nested case-control study. RESULTS: In the CESAME population the crude incidence of PILD was 0.12/1000 patient-years, with a corresponding SIR of 17.51 (95% confidence interval [CI], 6.43-38.11; P < 0.0001). The risk was highest in patients exposed to thiopurines (SIR 49.52, 95% CI 13.49-126.8; P < 0.0001), while it did not reach statistical significance in patients na?ve to thiopurines (SIR 4.83, 95% CI, 0.12-26.91; P = 0.37). The odds ratio associated with ongoing thiopurine exposure (vs. na?ve) was 2.97 (95% CI, 0.30-infinity; P = 0.38). All 14 cases of PILD were non-Hodgkin's B-cell LD, 78.6% occurred in males, 85.7% arose in IBD lesions, and 45.5% were Epstein-Barr virus-positive. Eleven cases occurred in patients with Crohn's disease. Mean (SD) age at PILD diagnosis was 55.1 (5.6) years and the median time since IBD onset was 8.0 years (interquartile range, 3.0-15.8). CONCLUSIONS: Patients with IBD have an increased risk of developing PILD. (Inflamm Bowel Dis 2012;). 相似文献
96.
P. Perrin S. Caillard R. M. Javier L. Braun F. Heibel C. Borni‐Duval C. Muller J. Olagne B. Moulin 《American journal of transplantation》2013,13(10):2653-2663
The risk of fractures after kidney transplantation is high. Hyperparathyroidism frequently persists after successful kidney transplantation and contributes to bone loss, but its impact on fracture has not been demonstrated. This longitudinal study was designed to evaluate hyperparathyroidism and its associations with mineral disorders and fractures in the 5 posttransplant years. We retrospectively analyzed 143 consecutive patients who underwent kidney transplantation between August 2004 and April 2006. The biochemical parameters were determined at transplantation and at 3, 12 and 60 months posttransplantation, and fractures were recorded. The median intact parathyroid hormone (PTH) level was 334 ng/L (interquartile 151–642) at the time of transplantation and 123 ng/L (interquartile 75–224) at 3 months. Thirty fractures occurred in 22 patients. The receiver operating characteristic (ROC) curve analysis for PTH at 3 months (area under the ROC curve = 0.711, p = 0.002) showed that a good threshold for predicting fractures was 130 ng/L (sensitivity = 81%, specificity = 57%). In a multivariable analysis, independent risk factors for fracture were PTH >130 ng/L at 3 months (adjusted hazard ratio [AHR] = 7.5, 95% CI 2.18–25.50), and pretransplant osteopenia (AHR = 2.7, 95% CI 1.07–7.26). In summary, this study demonstrates for the first time that persistent hyperparathyroidism is an independent risk factor for fractures after kidney transplantation. 相似文献
97.
Qian Wang‐Lopez PhD Student Catherine Abrial PhD Eloïse Planchat PhD Marie‐Ange Mouret‐Reynier MD Hervé Cure MD PhD Pr Pierre Gimbergues MD Pascale Dubray‐Longeras MD Emilie Gadea PhD Student Fabrice Kwiatkowski MS Frédérique Penault‐Llorca MD PhD Pr Philippe Chollet MD PhD Pr Xavier Durando MD PhD 《The breast journal》2013,19(4):448-450
98.
Ingmar Blümcke Maria Thom Eleonora Aronica Dawna D. Armstrong Fabrice Bartolomei Andrea Bernasconi Neda Bernasconi Christian G. Bien Fernando Cendes Roland Coras J. Helen Cross Thomas S. Jacques Philippe Kahane Gary W. Mathern Haijme Miyata Solomon L. Moshé Buge Oz Çiğdem Özkara Emilio Perucca Sanjay Sisodiya Samuel Wiebe Roberto Spreafico 《Epilepsia》2013,54(7):1315-1329
Hippocampal sclerosis (HS) is the most frequent histopathology encountered in patients with drug‐resistant temporal lobe epilepsy (TLE). Over the past decades, various attempts have been made to classify specific patterns of hippocampal neuronal cell loss and correlate subtypes with postsurgical outcome. However, no international consensus about definitions and terminology has been achieved. A task force reviewed previous classification schemes and proposes a system based on semiquantitative hippocampal cell loss patterns that can be applied in any histopathology laboratory. Interobserver and intraobserver agreement studies reached consensus to classify three types in anatomically well‐preserved hippocampal specimens: HS International League Against Epilepsy (ILAE) type 1 refers always to severe neuronal cell loss and gliosis predominantly in CA1 and CA4 regions, compared to CA1 predominant neuronal cell loss and gliosis (HS ILAE type 2), or CA4 predominant neuronal cell loss and gliosis (HS ILAE type 3). Surgical hippocampus specimens obtained from patients with TLE may also show normal content of neurons with reactive gliosis only (no‐HS). HS ILAE type 1 is more often associated with a history of initial precipitating injuries before age 5 years, with early seizure onset, and favorable postsurgical seizure control. CA1 predominant HS ILAE type 2 and CA4 predominant HS ILAE type 3 have been studied less systematically so far, but some reports point to less favorable outcome, and to differences regarding epilepsy history, including age of seizure onset. The proposed international consensus classification will aid in the characterization of specific clinicopathologic syndromes, and explore variability in imaging and electrophysiology findings, and in postsurgical seizure control. 相似文献
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