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Aléssio AC Annichino-Bizzacchi JM Bydlowski SP Eberlin MN Vellasco AP Höehr NF 《American journal of medical genetics. Part A》2004,(3):256-260
Hyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms, folate, and B12 levels could contribute to plasma homocysteine (Hcy) variation. Although well established in adults, few studies have been performed in childhood. In this study, we investigated association of polymorphisms C677T and A1298C in the MTHFR gene and A66G in the MTRR gene with Hcy levels in children. These polymorphisms, as well as Hcy, folate, and vitamin B12 levels were investigated in 220 normal children with ages ranging from 1 to 8 years. Plasma Hcy, folate, and vitamin B12 levels were normal in all children. None of the polymorphisms could be considered an independent risk factor for hyperhomocysteinemia during childhood. The median Hcy levels in 37 children (17%) doubly heterozygous for C677T and A1298C mutations in the MTHFR gene were not different from the other genotypes. However, the association of the different genotypes with Hcy, folate, and vitamin B12 levels demonstrated significant P-values. The folate levels demonstrated a statistically significant decrease (P = 0.0477) from the C677T mutation in the MTHFR gene (TT genotype) when compared to the other groups. Folate was the only independent risk factor for hyperhomocysteinemia. Thus, monitoring the concentrations of folate would be more helpful for evaluating hyperhomocysteinemia and for preventing cardiovascular disease. 相似文献
3.
M. Neri G. B. Migliori A. Spanevello D. Berra E. Nicolin C. V. Landoni L. Ballardini M. Sommaruga P. Zanon 《Allergy》1996,51(5):313-319
The aims of the present study were as follows:
- 1). to evaluate the medical outcomes of two treatment and educational asthma programs
- 2). to determine by cost-analysis both cost and economic outcome of the programs
- 3). to perform a cost-benefit analysis (determining the net cost-benefit) and a cost-effectiveness analysis (determining the cost per unit of effect and the incremental cost-effectiveness ratio) from the perspective of health program policy makers (HPP; indirect costs, i.e., loss of productivity, excluded) and of society as a whole (Saw; all costs included).
4.
C. Zanon R. Clara M. Bortolini A. Malossi R. Moscato P. Celoria M. De Andrea M. Rizzo I. Chiappino M. Grazia Sciuto A. Mussa 《International journal of hyperthermia》2013,29(5):456-464
ChemoHyperthermic Peritoneal Perfusion (CHPP) after cytoreductive surgery is a relatively new procedure in the treatment of abdominal carcinomatosis or sarcomatosis. An assessment of the CHPP technique performed on 20 patients suffering from abdominal malignancies was carried out. After surgical debulking and gastrointestinal anastomosis, two Tenckhoff catheters were positioned for the immediate performance of CHPP, which was carried out at 42-43°C for 1h, after closing the abdomen. In 19 assessable patients, 47.3% and 36.8% complete responses (CR) were recorded at 1 and 6 months, respectively, with responses of 37.5% in patients affected with gastrointestinal cancer and 50% in patients affected with ovarian cancer. CR were obtained only in patients who had undergone accurate peritoneal debulking. Survival rate for gastrointestinal and ovarian cancer was 68% at 12 months. Patients who underwent radical cytoreductive surgery are all alive at a follow-up median time of 17 months. Two anastomotic leakages with spontaneous recovery were observed, along with one hydrothorax, which was immediately drained during the procedure, three cases of chemotherapic gastrointestinal toxicity, one sepsis, one renal failure that required a transient dialysis, and one cholecystitis that required cholecystectomy. One patient died 30 days after CHPP of a cardiac ischaemia not strictly related to the surgical procedure. In the authors' experience, CHPP with closed abdomen after reconstructive gastrointestinal surgery is a safe and feasible treatment with acceptable side effects. 相似文献
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Borchiellini Alessandra Castaman Giancarlo Feola Giulio Ferretti Antonietta Giordano Paola Luciani Matteo Malcangi Giuseppe Margaglione Maurizio Molinari Angelo Claudio Pollio Berardino Rocino Angiola Santoro Cristina Schiavulli Michele Zanon Ezio 《Journal of thrombosis and thrombolysis》2022,53(4):934-944
Journal of Thrombosis and Thrombolysis - rVIII-SingleChain is indicated for treatment and prophylaxis of bleeding in patients with haemophilia A (HA). The safety and efficacy of rVIII-SingleChain... 相似文献
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Giovanni Novembre Marco Zanon Giorgia Silani 《Social cognitive and affective neuroscience》2015,10(2):153-164
Recent research has shown that experiencing events that represent a significant threat to social bonds activates a network of brain areas associated with the sensory-discriminative aspects of pain. In the present study, we investigated whether the same brain areas are involved when witnessing social exclusion threats experienced by others. Using a within-subject design, we show that an ecologically valid experience of social exclusion recruits areas coding the somatosensory components of physical pain (posterior insular cortex and secondary somatosensory cortex). Furthermore, we show that this pattern of activation not only holds for directly experienced social pain, but also during empathy for social pain. Finally, we report that subgenual cingulate cortex is the only brain area conjointly active during empathy for physical and social pain. This supports recent theories that affective processing and homeostatic regulation are at the core of empathic responses. 相似文献
9.
Estrogen receptor alpha and beta gene polymorphisms are not risk factors for recurrent miscarriage in a Brazilian population. 总被引:1,自引:0,他引:1
Aline Morandi Aléssio Lúcia Helena Siqueira Egle Cristina Couto de Carvalho Ricardo Barini Ant?nio de Pádua Mansur Nelci Fenalti Hoehr Joyce Maria Annichino-Bizzacchi 《Clinical and applied thrombosis/hemostasis》2008,14(2):180-185
The aim of this study was to determine the prevalence of alpha (ESR1: c.454-397T>C and c.454-351A>G) and beta (ESR2: 1082G>A and 1730G>A) estrogen receptor gene polymorphisms in 2 Brazilian ethnic groups (Caucasian, African Brazilian) and to investigate their association with recurrent miscarriage (RM) in 75 women with a history of 3 or more consecutive pregnancy losses and 139 controls with at least 2 live births and no history of pregnancy loss. Polymerase chain reaction and restriction fragment length polymorphism were used to identify gene polymorphisms. Coagulation methods were used to measure protein C, protein S, and fibrinogen, and a chromogenic method was used for antithrombin quantification. Significantly higher prevalences of 1082G>A and 1730G>A polymorphisms were seen in African Brazilian and Caucasian controls, respectively. There was no association between RM and ESR polymorphisms. There was a difference in the genotype prevalence in the c.454-39T>C polymorphism between RM and control Caucasians, but this finding was not associated with an increased risk of miscarriage. There was no synergistic or additive effect between ESR polymorphisms and thrombophilia in RM patients. A difference in the prevalence of ESR polymorphisms was observed, according to ethnic origin. ESR polymorphisms could not be considered a risk factor for RM. 相似文献
10.
M. Franchini A. Coppola A. Rocino E. Zanon M. Morfini the Italian Association of Haemophilia Centers Working Group 《Haemophilia》2014,20(2):e128-e135
Despite great advances in haemophilia care in the last 20 years, a number of questions on haemophilia therapy remain unanswered. These debated issues primarily involve the choice of the product type (plasma‐derived vs. recombinant) for patients with different characteristics: specifically, if they were infected by blood‐borne virus infections, and if they bear high or low risk of inhibitor development. In addition, the most appropriate treatment regimen in non‐inhibitor and inhibitor patients compel physicians operating at the haemophilia treatment centres (HTCs) to take important therapeutic decisions, which are often based on their personal clinical experience rather than on evidence‐based recommendations from published literature data. To know the opinion on the most controversial aspects in haemophilia care of Italian expert physicians, who are responsible for common clinical practice and therapeutic decisions, we have conducted a survey among the Directors of HTCs affiliated to the Italian Association of Haemophilia Centres (AICE). A questionnaire, consisting of 19 questions covering the most important topics related to haemophilia treatment, was sent to the Directors of all 52 Italian HTCs. Forty Directors out of 52 (76.9%) responded, accounting for the large majority of HTCs affiliated to the AICE throughout Italy. The results of this survey provide for the first time a picture of the attitudes towards clotting factor concentrate use and product selection of clinicians working at Italian HTCs. 相似文献