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C. A. Mangone E. M. Castaño E. Levy G. Abiusi T. Wisniewski M. R. Marques E. Faccio P. B. Gorelick B. Frangione and R. E. P. Sica 《Acta neurologica Scandinavica》1995,91(1):6-13
We report the clinical, SPET, immunohistochemical and DNA features of an early-onset familial Alzheimer's disease (FAD) in an Argentine pedigree of South American indian ethnic background. Pedigree spans 5 generations comprising more than 110 biological relatives. Clinical data supported the diagnosis of early onset FAD (mean age at onset 38.9 years) in 10 family members, including 3 with pathological confirmation (mean age at death 48.5). The pattern of transmission suggested autosomal dominant inheritance. Prominent features were mood changes, early language impairment, myoclonus, seizures and cerebellar signs. SPET displayed bilateral frontal, temporo-parietal and cerebellar hypoperfusion in early stages and in an asymptomatic member at risk, suggesting that SPET may have predictive value in this family. Immunohistochemistry showed β amyloid deposits within neuritic plaques and vessel walls and no anti-PrP immunoreactivity. DNA analysis showed no abnormalities in the β amyloid precursor protein gene. The identification of additional genetic defects in well characterized independent FAD pedigrees will contribute to the understanding of the pathogenesis of Alzheimer's disease. 相似文献
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Mário Martins Oliveira Nogueira da Silva Ana Teresa Timóteo Joana Feliciano Lídia de Sousa Sofia Santos Fernando Marques Rui Ferreira 《Revista portuguesa de cardiologia》2007,26(7-8):691-702
Atrial electrical remodeling plays a part in recurrence of atrial fibrillation (AF). It has been related to an increase in heterogeneity of atrial refractoriness that facilitates the occurrence of multiple reentry wavelets and vulnerability to AF. AIM: To examine the relationship between dispersion of atrial refractoriness (Disp_A) and vulnerability to AF induction (A_Vuln) in patients with clinical paroxysmal AF (PAF). METHODS: Thirty-six patients (22 male; age 55+/-13 years) with > or =1 year of history of PAF (no underlying structural heart disease--n=20, systemic hypertension--n=14, mitral valve prolapse--n=1, surgically corrected pulmonary stenosis--n=1), underwent electrophysiological study (EPS) while off medication. The atrial effective refractory period (AERP) was assessed at five different sites--high (HRA) and low (LRA) lateral right atrium, high interatrial septum (IAS), proximal (pCS) and distal (dCS) coronary sinus--during a cycle length of 600 ms. AERP was taken as the longest S1-S2 interval that failed to initiate a propagation response. Disp_A was calculated as the difference between the longest and shortest AERP. A_Vuln was defined as the ability to induce AF with 1-2 extrastimuli or with incremental atrial pacing (600-300 ms) from the HRA or dCS. The EPS included analysis of focal electrical activity based on the presence of supraventricular ectopic beats (spontaneous or with provocative maneuvers). The patients were divided into group A--AF inducible (n=25) and group B--AF not inducible (n=11). Disp_A was analyzed to determine any association with A_Vuln. Disp_A and A_Vuln were also examined in those patients with documented repetitive focal activity. Logistic regression was used to determine any association of the following variables with A_Vuln: age, systemic hypertension, left ventricular hypertrophy, left atrial size, left ventricular function, duration of PAF, documented atrial flutter/tachycardia and Disp_A. RESULTS: There were no significant differences between the groups with regard to clinical characteristics and echocardiographic data. AF was inducible in 71% of the patients and noninducible in 29%. Group A had greater Disp_A compared to group B (105+/-78 ms vs. 49+/-20 ms; p=0.01). Disp_A was >40 ms in 50% of the patients without A_Vuln and in 91% of those with A_Vuln (p=0.05). Focal activity was demonstrated in 14 cases (39%), 57% of them with A_Vuln. Disp_A was 56+/-23 ms in this group and 92+/-78 ms in the others (p=0.07). Using logistic regression, the only predictor of A_Vuln was Disp_A (p=0.05). CONCLUSION: In patients with paroxysmal AF, Disp_A is a major determinant of A_Vuln. Nevertheless, the degree of nonuniformity of AERP appears to be less important as an electrophysiological substrate for AF due to focal activation. 相似文献
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César Marques Salgado Claudio C Conti Paulo H B Becker 《Applied radiation and isotopes》2006,64(6):700-705
The Monte Carlo method was used to calculate the efficiency, escape and Compton curves of a planar high-purity germanium detector (HPGe) in the 20-150 keV energy. These curves were used for the determination of photons spectra produced by an X-ray machine in order to allow a precise characterization of photon beams applied to medical diagnosis. The detector was modeled with the MCNP5 computer code and validated by comparison with experimental data. The air kerma calculated after the spectra stripping was compared with ionization chamber measurements. 相似文献
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Abstract: This paper describes a device used to measure the isometric forces generated during electrical stimulation of the canine latissimus dorsi muscle in vivo with a preserved neurovascular supply. This device uses 2 strain gauge force sensors linked to a movable alignment frame to which the muscle is attached. The muscle length is controlled by the application of known weights to the system. The device has a frequency of response of 17.5 Hz and compliance of -0.1 mm N-1 , and its experimental performance was tested in the anesthetized mongrel dog. 相似文献
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Everson L. A. Artifon Airton Z. Rodrigues Sergio Marques Bhawna Halwan Paulo Sakai Claudio Bresciani Atul Kumar 《Journal of gastrointestinal surgery》2007,11(12):1686-1691
Background Exploratory laparoscopy is commonly undertaken in patients with highly suspicious biliary and pancreatic lesions to facilitate
diagnosis and staging cancer is present. If an unresectable tumor is identified, a second endoscopic procedure may be required
do deploy a self-expandable metal stent (SEMS) for palliation. As endoscopic retrograde cholangio pancreatography (ERCP) may
be unsuccessful in up to 20% of patients, we evaluated the feasibility and safety of deployment of self-expandable metal stents
at the same time as the initial laparoscopy.
Patients and Methods A total of 23 eligible patients (8 male and 15 female) with malignant obstruction of the common bile duct underwent deployment
of SEMS at laparoscopy. Primary outcome measure was the successful laparoscopic deployment of stent and secondary outcome
measure was complications rates.
Results Indications for stent deployment were unresectable pancreatic cancer in 18, cholangiocarcinoma in two, neuroendocrine tumor
in one and ampullary adenocarcinoma in two patients. The median age was 73 years (range 49–93). Twenty-two of 23 stents were
deployed successfully: 17 stents were deployed transcystically and five via a choledochotomy. Median times for laparoscopic
exploration and SEMS deployment were 165 min (range 105–230) and 20 min (range 10–50), respectively. Pre- and post-procedures
median total bilirubin were 9.4 mg/dl (range 5.4–17.5) and 4.0 (range 2.6–7.1). The median size of the pancreatic mass was
3 cm (range 2–5 cm) and that of the common bile duct (CBD) from 9.2 mm (range 7.2–17.4). The mean duration of laparoscopy
was 170 min (range 120–230 min) and that for stent deployment 23 min (range 10–50 min). Complications included bleeding, obstruction,
and wound infection. Bleeding occurred on day 7 in two patients and on day 30 in one patient; bleeding occurred at the gastrojejunal
anastomosis site and was successfully treated with endoscopic hemostasis. A total of three stent obstructions were identified:
one each at 60, 90, and 120 days follow-up. All complications were successfully managed endoscopically. There were a total
of seven deaths, six as a result of progressive cancer and one of surgical wound infection and ensuing complications.
Conclusion This study demonstrates that laparoscopic deployment of self-expandable metal bile duct stents is feasible and safe. This
option appears to be a reasonable option in patients with inoperable malignant obstruction of the distal common bile duct. 相似文献
10.
Nicholas Stephens Eric Marques Christopher Livingston 《CANADIAN JOURNAL OF PLASTIC SURGERY》2007,15(1):44-46
Anomalies of the flexor digitorum superficialis muscle are extremely uncommon and usually present as a painful mass or pseudotumour within the palm. Diagnosis may be difficult because many other soft tissue tumours (lipomas, ganglions, giant cell tumours and hamartomas) may present similarly. Magnetic resonance imaging helps to define the extent and characteristics of this anomalous muscle belly and to distinguish it from a soft tissue sarcoma, whereas plain radiographs are of little value. Three types of flexor digitorum superficialis muscle anomalies have been described, and treatment consists of subtotal or total surgical debulking of the mass if symptoms persist or if the diagnosis is in question. Most patients have complete resolution and full recovery. To date, 20 cases have been reported in the literature, usually involving the right small finger. In the present paper, the case of an anomalous flexor digitorum superficialis muscle in a 17-year-old male patient’s left index finger is reported. Symptoms were relieved following surgical debulking and hand-based occupational therapy. 相似文献