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11.
Marcio Leyser Patricia Sola Penna Alexandre Cardozo de Almeida Marcio Moacyr Vasconcelos Osvaldo J. M. Nascimento 《Neurological sciences》2014,35(5):701-705
Angelman syndrome is a neurogenetic disorder that severely affects global neurodevelopment due to modifications in the structure or functioning of UBE3A gene. Its prevalence ranges from 1:10,000 to 1:40,000. There are four main genetic types of AS transmission. A maternal deletion in 15q11.2-q13 is the most common type. There are three well-established electroencephalogram (EEG) patterns used as an ancillary tool for AS diagnosis. The main objectives are to scrutinize the EEG patterns in Angelman syndrome, their correlation to different types of seizures and to review the role of the EEG as an ancillary screening tool in the diagnosis of clinically suspected patients. Forty-three patients’ charts and their previously recorded EEGs were reviewed. A set of 34 patients with deletion type, paternal uniparental disomy type and imprint defect type AS were enrolled. AS diagnosis was confirmed either by fluorescent in situ hybridization test or Methylation Specific–Multiplex Ligation Probe Amplification test. Sequencing of UBE3A was not available. Frequencies and Chi-square tests were used for statistic analysis. Pattern I type EEG was observed in 22 (64.7 %) individuals. Pattern II accounted for 6 (17.6 %); Pattern III was evident in 11 (32.4 %). The three distinguished EEG patterns, more frequently Pattern I, when observed in the appropriate clinical setting, may heighten the index of suspicion for selecting patients who will need a molecular biology test to confirm the diagnosis of AS. 相似文献
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S. U. Eisenhardt H. Nienhueser D. Braig V. Penna H. Bannasch N. Torio-Padron 《Aesthetic plastic surgery》2013,37(6):1153-1160
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Background
Purified water for pharmaceutical purposes must be free of microbial contamination and pyrogens. Even with the additional sanitary and disinfecting treatments applied to the system (sequential operational stages), Pseudomonas aeruginosa, Pseudomonas fluorescens, Pseudomonas alcaligenes, Pseudomonas picketti, Flavobacterium aureum, Acinetobacter lowffi and Pseudomonas diminuta were isolated and identified from a thirteen-stage purification system. To evaluate the efficacy of the chemical agents used in the disinfecting process along with those used to adjust chemical characteristics of the system, over the identified bacteria, the kinetic parameter of killing time (D-value) necessary to inactivate 90% of the initial bioburden (decimal reduction time) was experimentally determined. 相似文献14.
Increased brain l‐arginine availability facilitates cutaneous heat loss induced by running exercise
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Samuel Penna Wanner Laura Hora Rios Leite Juliana Bohnen Guimarães Cândido Celso Coimbra 《Clinical and experimental pharmacology & physiology》2015,42(6):609-616
The effects of increased brain availability of l ‐arginine (l ‐arg), a precursor for nitric oxide synthesis, on core body temperature (Tcore) and cutaneous heat loss were evaluated in running rats. One week prior to the experiments, adult male Wistar rats received the following implants: a chronic guide cannula in the lateral cerebral ventricle and a temperature sensor in the abdominal cavity. On the day of the experiments, the rats were assigned to receive a 2‐μL intracerebroventricular injection of either NaCl (0.15 mol/L) or l ‐arg solution (0.825, 1.65 or 3.30 mol/L); Tcore and tail skin temperature were measured while the rats ran at a speed of 18 m/min until they were fatigued. l ‐arginine induced a dose‐dependent reduction in the threshold Tcore required for cutaneous heat loss (38.09 ± 0.20°C for 3.30‐mol/L l ‐arg vs 38.61 ± 0.10°C for saline; P < 0.05), which attenuated the exercise‐induced hyperthermia. Although the rats treated with l ‐arg presented a lower Tcore at the end of exercise (~0.7°C lower after treatment with the highest dose), no changes in the time to fatigue were observed relative to the control trial. These results suggest that brain l ‐arg controls heat loss during exercise, most likely by modulating the sympathetic vasoconstrictor tonus to skin vessels. Furthermore, despite facilitating cutaneous heat loss mechanisms, increased brain l ‐arg availability did not enhance physical performance. 相似文献
15.
Christophe Penna M.D. Emmanuel Tiret M.D. Frederic Daude M.D. Professor Rolland Parc M.D. 《Diseases of the colon and rectum》1994,37(2):157-160
PURPOSE: Rectal cancer frequently occurs in patients with familial adenomatous polyposis (FAP) and, in some cases, proctocolectomy and ileal pouch-anal anastomosis (IPAA) can be proposed as an alternative to end ileostomy. This study aimed to assess the results of IPAA for familial adenomatous polyposis complicated by rectal carcinoma. PATIENTS AND METHODS: Postoperative morbidity and bowel function following IPAA were assessed in six patients who had a mesorectal excision for rectal cancer. The functional results were compared with those obtained after IPAA in 134 FAP patients without bowel cancer. RESULTS: Carcinomas were located at a mean of 11 cm from the dentate line. There were no postoperative complications. One patient with synchronous hepatic metastases died 6 months after operation and the 5 others were alive without recurrence after a mean follow-up of 29 months. Mean frequency of defecation was 6.5/day (vs. 4.2/day in patients without carcinoma), 86 percent of patients had nocturnal defecation (vs. 50 percent), day and night continence were normal in 66 percent and 33 percent of patients, respectively, compared with 90 percent and 85 percent for IPAA without cancer. Pouch excision was required in one patient for unsatisfactory functional result. CONCLUSION: IPAA can be safely performed for cancer of the upper rectum complicating FAP, but a poor functional outcome related to mesorectal excision has to be expected. 相似文献
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17.
Activity of apelin and APJ receptors on myocardial contractility and vasomotor tone] 总被引:3,自引:0,他引:3
Gianni Losano Claudia Penna Sandra Cappello Pasquale Pagliaro 《Italian heart journal. Supplement》2005,6(5):272-278
Apelin, an endogenous peptide, is the ligand of APJ receptors. Although initially it was identified in the gastrointestinal tract, later its presence was found in several organs and tissues. On the cardiovascular system apelin induces an increase in myocardial contractility and a reduction of vasomotor tone. While the increase in contractility seems to depend on an activation of Na+/H+ and Na+/Ca2+ exchangers, vasodilation is attributed to a release of nitric oxide from the vascular endothelial cells. Apelin-induced vasodilation leads to a reduction of mean filling pressure which in turn causes a decrease of afterload and preload. When apelin is given acutely, the decrease in preload favors the reduction of stroke volume and cardiac output in spite of an increased contractility. On the contrary, when the peptide is administered for 2 weeks, cardiac output increases significantly without the occurrence of cardiac hypertrophy. It is not excluded that hypertrophy might occur after a longer administration. 相似文献
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19.
Penna C Pasqua T Perrelli MG Pagliaro P Cerra MC Angelone T 《Basic research in cardiology》2012,107(4):272-11
We recently reported that heart expresses functional receptors for the anorexigenic glucagon-like peptide (GLP)-2. Activation of these cardiac receptors affected basal heart performance through extracellular regulated kinase (ERK1/2) activation. Since ERK1/2 is considered one of the prosurvival kinases of postconditioning cardioprotective pathways, we hypothesized that GLP-2 directly protects the heart against ischemia/reperfusion (I/R) injury via prosurvival kinases. Wistar rat hearts were retrogradely perfused on a Langendorff perfusion apparatus. After 40-min stabilization, hearts underwent 30-min global ischemia and 120-min reperfusion (I/R group). In GLP-2 group, the hearts received 20-min GLP-2 (10(-7)?M) infusion at the beginning of the 120-min reperfusion. Perfusion pressure and left ventricular pressure (LVP) were monitored. Infarct size was evaluated by nitroblue-tetrazolium staining. Compared with the I/R group, GLP-2-treated hearts showed a significant reduction of infarct size and of postischemic diastolic LVP (index of contracture), together with a sharp improvement of developed LVP recovery (index of contractility). The protective effects were abolished by co-infusion with phosphatidylinositol 3-kinase inhibitor, Wortmannin (WT), the ERK1/2 inhibitor, PD98059, or the mitochondrial K(ATP) channel blocker, 5-hydroxydecanoate. GLP-2 effects were accompanied by increased phosphorylation of protein kinase B (PKB/Akt), ERK1/2 and glycogen synthase kinase (GSK3β). After 7-min reperfusion, WT blocked Akt and GSK3β phosphorylation. After 30-min reperfusion, WT inhibited phosphorylation of all kinases. In conclusion, the data suggest that GLP-2, given in early reperfusion, as postconditioning, protects against myocardial I/R injury, limiting infarct size, and improving post-ischemic mechanical recovery. It seems that the GLP-2-protection of rat heart involves multiple prosurvival kinases and mitochondrial K(ATP) channels. 相似文献
20.