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21.
In a patient with clinical manifestations suggestive of brain malformation, CT showed lissencephaly with absent opercularization. The child had seizures but not a typical EEG of hypsarhythmia. MRI confirmed the diagnosis and showed heterotopic grey matter and abnormal basal ganglia. High grey-white matter contrast and the possibility of imaging the brain in sagittal, coronal and transverse planes make MRI the methode of choice for the evaluation of lissencephaly and other brain malformations. 相似文献
22.
Improving the safety of patient care is an issue which affects health systems in both developed and developing countries. To co-ordinate and accelerate improvements in patient safety, the World Health Organization (WHO) has supported the creation of the World Alliance for Patient Safety which was launched in October 2004. The six action areas of the Alliance are Patients for Patient Safety, Taxonomy, Research, Solutions for Patient Safety, Reporting and Learning, and a biennial Global Patient Safety Challenge. The first Challenge covering 2005-2006 was launched in October 2005 under the banner 'Clean Care is Safer Care'. The Challenge addresses health care-associated infection, a major, patient safety problem affecting hundreds of millions of people worldwide. 相似文献
23.
The reactivities of carbaryl, N-methyl 1-naphthylcarbamate insecticide and its N-nitrosated derivative carcinogenic, N-nitrosocarbaryl, were investigated on the microsomal hepatic lipid peroxidation and NADPH-dependent reductase activities. The in vivo treatment by N-nitrosocarbaryl produced a reduction in lipoperoxidative degradation induced in vitro by NADPH with regard to the formation of malonaldehyde and conjugated dienes. Carbaryl, its precursor did not affect lipid peroxidation under the same in vivo conditions. Moreover, following administration of the 2 compounds, the activities of NADPH-cytochrome c reductase as well as NADPH-neotetrazolium reductase were significantly decreased by N-nitrosocarbaryl but not influenced by carbaryl. Correspondingly, in vitro studies were performed; different action patterns of the 2 tested xenobiotics were also noted after treatment of rat liver microsomes in vitro by carbaryl and N-nitrosocarbaryl especially in their ability to cope with microsomal oxygen activation. N-Nitrosocarbaryl proved to have a potent inhibitor concentration effect on NADPH-dependent chemiluminescence response in vitro; carbaryl was virtually ineffective on this parameter. No significant difference appeared in the affinity of N-nitrosocarbaryl and carbaryl for the microsomal phospholipids. From the in vitro explorations, it was suggested that carcinogenic N-nitrosocarbaryl may be involved in the inhibition mechanism of microsomal lipid peroxidation through decreases in both NADPH-dependent reductase activities and superoxide generation. 相似文献
24.
Constantly evolving treatment guidelines based on a growing body of randomized controlled trials are helping us to improve outcomes in sepsis. However, it must be borne in mind that proven benefit from individual sepsis treatments does not guarantee synergistic beneficial effects when new treatments are added to sepsis management. Indeed, unexpected harmful interactions are also possible. A good example of this is the conflict between intensive insulin therapy and 'low dose' hydrocortisone in septic shock. The goal of tight glycaemic control is made more complicated by steroid-induced hyperglycaemia. In their recent study, Loisa and coworkers demonstrate a measure that reduces the risk for this interaction. They found continuous infusion of hydrocortisone to be associated with fewer hyperglycaemic episodes and reduced staff workload compared with bolus application. 相似文献
25.
A Mantero M Possa D Torta A Dabalà A Catenacci F Giampino L Musso A Santelia F Banfi A Pezzano 《La Radiologia medica》1988,75(5):446-452
From 1-1-1981 to 3-31-1985, 367 subjects (227 males and 140 females) were examined by means of TL-201 myocardial scintigraphy for diagnostic purpose. A follow-up period, 5 years maximum, was run in order to assess the prognostic value of the three equivalents of transient myocardial ischemia which can be demonstrated by the test (angina, reversible hypoperfusion, and ST-T segment changes). The end points were myocardial infarction and/or sudden death. Three-hundred fifty-four patients complied (96%). During the observation period 9 severe ischemic events (SIE) occurred: 5 myocardial infarctions and 4 sudden deaths. As far as the predictivity of SIE is concerned, the "t" test for independent samples showed a statistically significant difference between the group of patients with no signs of ischemia and the group with positive scintiscan (p less than 0.05) and with the three equivalents of ischemia all together (p less than 0.05). Moreover, in the sub-group of patients with pathological scintigraphic results the probability for SIE to occur was statistically different in the patients with no hypoperfusion in the region supplied by the anterior descending coronary artery and in those with pathological scintigraphic findings in that region (p less than 0.05). In our opinion, the above data demonstrate the pathological signs noticeable with stress myocardial TL-201 scintiscan to have prognostic value. 相似文献
26.
Brémond-Gignac D Crolla JA Copin H Guichet A Bonneau D Taine L Lacombe D Baumann C Benzacken B Verloes A 《European journal of human genetics : EJHG》2005,13(4):409-413
Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented. 相似文献
27.
Chassaing N Siani V Carles D Delezoide AL Alberti EM Battin J Chateil JF Gilbert-Dussardier B Coupry I Arveiler B Saura R Lacombe D 《American journal of medical genetics. Part A》2005,(4):307-312
We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to termination of the pregnancies. A fourth affected male died at 6 days of life. The four patients had chondrodysplasia, hydrocephaly, and facial features with microphthalmia. Radiographs showed severe platyspondyly and various bone abnormalities including a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. The affected females were less affected and showed small stature, sometimes associated with body asymmetry and mild mental retardation. This condition appears to be a previously unrecognized X-linked dominant chondrodysplasia. 相似文献
28.
Pierre-Edouard Fournier Mogens Jensenius Herman Laferl Sirka Vene Didier Raoult 《Clinical and Vaccine Immunology : CVI》2002,9(2):324-328
African tick-bite fever, caused by Rickettsia africae, is the most common tick-borne rickettsiosis in sub-Saharan Africa. Mediterranean spotted fever due to Rickettsia conorii also occurs in the region but is more prevalent in Mediterranean countries. Using microimmunofluorescence, we compared the development of immunoglobulin G (IgG) and IgM titers in 48 patients with African tick-bite fever and 48 patients with Mediterranean spotted fever. Doxycycline treatment within 7 days from the onset of disease significantly prevented the development of antibodies to R. africae. In patients with African tick-bite fever, the median times to seroconversion with IgG and IgM were 28 and 25 days, respectively, after the onset of symptoms. These were significantly longer by a median of 6 days for IgG and 9 days for IgM than the times for seroconversion in patients with Mediterranean spotted fever (P < 10−2). We recommend that sera collected 4 weeks after the onset of signs of patients with suspected African tick-bite fever should be used for the definitive serological diagnosis of R. africae infections. 相似文献
29.
Sylvestre Marchaux Paul Fornes Stphanie Petit Catherine Poisson Didier Thevenin Thierry Le Tourneau Philippe Asseman Patrick Bruneval Pierre-Vladimir Ennezat 《Cardiovascular pathology》2008,17(4):241-243
Myocardial dysfunction without coronary involvement may occur in acute cerebral diseases. The inverted Takotsubo pattern has been recently recognized as a novel heart neurologic stress-related syndrome. We report on the case of a 40-year-old woman presenting with massive subarachnoid hemorrhage and brain death. Echocardiography revealed an extensive left ventricular circumferential akinesis except at the apex. Histologic analysis of the heart confirmed the absence of myocardial infarction and revealed only sparse foci of myocyte necrosis with contraction bands in the akinetic areas. 相似文献
30.
Charlotte Charpentier Didier Laureillard Mustapha Sodqi Ali Si-Mohamed Marina Karmochkine Laurent Bélec Laurence Weiss Christophe Piketty 《Journal of clinical virology》2008,43(2):212-215
BACKGROUND: Salvage therapy based on foscarnet plus a thymidine analog is effective in patients with advanced-stage HIV disease and viruses harbouring multiple drug-resistance mutations. OBJECTIVE: To identify viral genetic determinants associated with the virological efficacy of foscarnet salvage therapy. STUDY DESIGN: Thirteen patients received foscarnet at a fixed dose of 80mg/kg twice daily for 14 days, in combination with zidovudine or stavudine. RESULTS: The baseline median HIV viral load and CD4 cell count were 5.10log(10)copies/ml and 23cells/mm(3), respectively. Following foscarnet therapy, viral load fell by a median of 1.84log(10)copies/ml (range: -0.29 to -2.82), and by at least 1log(10)copies/ml in 11 patients, all of whom harboured viruses with at least three thymidine-associated mutations (TAMs). The two patients with smaller declines in viral load (<0.50log(10)copies/ml) harboured viruses with only one or zero TAMs. CONCLUSIONS: These findings corroborate, in vivo, the impact of TAMs on HIV susceptibility to foscarnet. The virological response to foscarnet salvage therapy in multiclass-experienced patients may thus differ according to the number of TAMs. 相似文献