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51.
Venceslá A Baena M Garrido RP Nú?ez R Velasco F Rosell J Villar A Jiménez-Yuste V Baiget M Tizzano EF 《Haemophilia》2012,18(5):708-713
Summary. We performed molecular analysis of the factor 8 gene (F8) in 272 unrelated Spanish patients with haemophilia A (HA) and detected a mutation by routine analysis in 267 of them (98.1%). No mutation was detected in the remaining five patients despite clinical and laboratory confirmation of HA. The aim is to describe the molecular alterations in F8 discovered by gene dosage methodologies in three of these patients. For methodology, F8 sequencing, intragenic marker analysis, multiplex ligation-dependent probe amplification and quantitative real time-PCR were followed. One patient had Klinefelter syndrome (47,XXY) and a large deletion spanning exons 1-12 masked by the other F8 allele; the second patient showed a large duplication spanning exons 2-10 and the third patient revealed a non-contiguous double duplication of exons 14 and 23-25. The remaining two patients had mild HA and dosage results were normal. The application of gene dosage methods is useful to define haemophilic patients in whom mutations are not detected using other routine methods. Nevertheless, in a small percentage of patients (<1%), no molecular pathology can be identified after testing several genetic methodologies. 相似文献
52.
F. FERNÁNDEZ-PALAZZI R. VISO A. BOADAS A. RUIZ-SÁEZ H. CAVIGLIA & N. BLUMENFELD DE BOSCH 《Haemophilia》2002,8(3):375-381
We report our preliminary experience with the use of hyaluronic acid (Synvisc) in 29 joints from 25 different haemophilic patients (17 knees, six shoulders, four ankles, one elbow and one hip). All the joints were grade III of our classification, characterized by synovial thickening, axial deformities and muscle atrophy (chronic arthropathy). In view of the very satisfactory results obtained with this procedure, we have substituted Synvisc for the previous use of intra-articular long-standing corticosteroids that we had been used for some years. This method is theoretically more physiological and does not destroy the joint cartilage further, as corticosteroids can. 相似文献
53.
We report a case of meningeal melanocytoma in the thoracic spinal cord of a 44-year-old woman and review previously documented cases. Our patient experienced numbness and tingling in her left leg for 8 years, and low back pains with intermittent claudication for the previous 2 months. A histologically benign 20-mm tumour was totally resected. Radiation therapy was not given. The tumour showed the histological, immunohistochemical and ultrastructural features of a meningeal melanocytoma. The patient is alive without recurrence 4.5 years after surgery. 相似文献
54.
DANIEL E. FORMAN M.D. BORIS D. NÚÑEZ M.D. CRAIG S. KEIGHLEY M.B. CINDY A. COMSTOCK RDCS DAN J. DIVER M.D. ROBERT G. JOHNSON M.D. PAMELA S. DOUGLAS M.D. WARREN J. MANNING M.D. 《Echocardiography (Mount Kisco, N.Y.)》1995,12(4):407-411
Discrete subvalvular aortic membrane is an unusual cause of left ventricular outflow tract obstruction. While commonly presenting during childhood, one quarter of the individuals are asymptomatic in childhood but remain vulnerable to progressive outflow tract obstruction as well as bacterial endocarditis in adulthood. Unfortunately, because the condition is so uncommon in adults, the diagnosis of subvalvular membrane is often missed or delayed. We recently had the opportunity to care for an adult patient who finally had subvalvular membrane identified as the cause of a left ventricular outflow obstruction, only after a protracted series of diagnostic investigations. Pitfalls in the noninvasive and invasive diagnosis of this condition are reviewed. 相似文献
55.
FRANCISCO J. CHORRO M.D. Ph.D. XAVIER IBAÑEZ‐CATALÁ I.E.E. ISABEL TRAPERO Ph.D. LUIS SUCH‐MIQUEL Ph.D. FRANCISCA PELECHANO M.D. Ph.D. JOAQUÍN CÁNOVES M.D. Ph.D. LUIS MAINAR M.D. Ph.D. Álvaro Tormos Ph.D. JOSE M. CERDÁ M.D. Ph.D. ANTONIO ALBEROLA M.D. Ph.D. LUIS SUCH M.D. Ph.D. 《Pacing and clinical electrophysiology : PACE》2013,36(3):286-298
56.
57.
A. BOADAS F. FERNÁNDEZ‐PALAZZI N. B. DE BOSCH M. CEDEÑO A. RUIZ‐SÁEZ 《Haemophilia》2011,17(3):422-427
Summary. Elective surgery in patients with congenital haemophilia with inhibitors carries a high risk of bleeding. However, inhibitor patients also have a high risk of haemarthroses and other orthopaedic complications, and surgery could improve their quality of life. Successful elective surgery has been reported in inhibitor patients under haemostatic cover with plasma‐derived activated prothrombin complex concentrate (pd‐aPCC) or recombinant activated factor VII (rFVIIa). Recombinant FVIIa has recently become available in Venezuela and, unlike pd‐aPCC, has not been associated with an anamnestic response. The aim of this study was to assess our experience using rFVIIa as a first‐line and sustained treatment in elective invasive surgical procedures at the National Haemophilia Centre in Venezuela. Surgical procedures were classified as major or minor, under haemostatic cover with rFVIIa. A total of 13 patients (12 with haemophilia A with high‐responding inhibitors and one with von Willebrand’s disease type 3) underwent a total of 19 surgical procedures under rFVIIa cover. Thirteen procedures were classified as major surgeries. Intraoperative haemostasis was achieved in the majority of patients. Only two patients required an additional dose of rFVIIa, at 30 min and 75 min, respectively, with good results. Postoperative haemostasis was considered effective in 16 of 18 (89%) of the procedures in haemophilia A patients. Treatment was considered to be ineffective in two patients because of excessive postoperative bleeding. Data from the study provide no safety concerns, and demonstrate that rFVIIa provides effective haemostatic cover in elective surgery in patients with inhibitors; research is ongoing to determine the optimal dose for such procedures. 相似文献
58.
Ramadhani S O Nondo Zakaria H Mbwambo Abdul W Kidukuli Ester M Innocent Matobola J Mihale Paul Erasto Mainen J Moshi 《BMC complementary and alternative medicine》2011,11(1):33
Background
The leaves and roots of Cissampelos mucronata A. Rich (Menispermaceae) are widely used in the tropics and subtropics to manage various ailments such as gastro-intestinal complaints, menstrual problems, venereal diseases and malaria. In the Coast region, Tanzania, roots are used to treat wounds due to extraction of jigger. Leaves of Tephrosia villosa (L) Pers (Leguminosae) are reported to be used in the treatment of diabetes mellitus in India. In this study, extracts from the roots and aerial parts of C. mucronata and extracts from leaves, fruits, twigs and roots of T. villosa were evaluated for larvicidal activity, brine shrimps toxicity and antimicrobial activity. 相似文献59.
Mainen Moshi Cosam Joseph Esther Innocent Mayunga Nkunya 《Pharmaceutical biology》2013,51(4-5):269-273
Petroleum ether, dichloromethane, and ethanolic extracts of the stem bark and leaves of Uvaria scheffleri Diels (Annonaceae) exhibited antifungal activity against Aspergillus niger (wild strain), Aspergillus fumigatus (wild strain), and a Penicillium species (wild strain). The ethanol extract of the stem bark was also active against Candida albicans (Strain H6392). The dichloromethane extract of the leaves showed the highest antifungal activity and in addition it showed antibacterial activity against Staphylococcus aureus (NCTC 6571). Fractionation of the dichloromethane extract of the leaves yielded nine known compounds. They included a 1 : 1 mixture of stigmasterol (1) and β-sitosterol (2), which showed antifungal activity against Candida albicans. Others were 3-farnesylindole (3), 2′,6′-dihydroxy-3′,4′-dimethoxy-chalcone (4), 2′-hydroxy-3′,4′,6′-trimethoxychalcone (5), 5-hydroxy-7,8-dimethoxyflavanone (6), 5,7,8-trimethoxyflavanone (7), and a 3 : 2 mixture of 2′,6′-dihydroxy-4′-methoxychalcone (8) and 5,7-dihydroxyflavone (9). Compound 7 and the mixture of compounds 8 and 9 showed antibacterial activity against Escherichia coli (NCTC 10418, MIC 125 µg/ml) and Staphylococcus aureus (MIC 125 µg/ml), respectively. The mixture of compounds 8 and 9 was also active against Candida albicans (MIC 31.25 µg/ml), Aspergillus niger, Aspergillus fumigatus, and the Penicillium species (MIC 1000 µg/ml). We conclude that Uvaria scheffleri extracts contain compounds with antifungal and antibacterial activity. The activities observed in this study are weak. Based on previous studies, it is being speculated that, possibly, the most active compounds were lost during fractionation. Further work to isolate more antifungal and antibacterial compounds is suggested. 相似文献
60.
Jackson P Periasamy S Bansal V Geso M 《Australasian physical & engineering sciences in medicine / supported by the Australasian College of Physical Scientists in Medicine and the Australasian Association of Physical Sciences in Medicine》2011,34(2):243-249
There has been increasing interest in the use of a nanoparticle-based media as a contrast-enhancement agent in medical imaging,
particularly with gold Nanoparticles in radiography. Particularly attractive, is the prospect of modifying the surface of
these materials with monoclonal antibodies to preferentially bind the nanoparticles to tumour sites. These materials differ
from conventional molecular agents in their ability to be modified with cell specificity, or tailored for size and shape for
maximum uptake. We investigated the consideration that quantum confinement electronic effects in nanometre-sized metals might
have an effect on the integrated photon attenuation of gold atoms; in the same manner as these materials affect X-ray absorption
and scattering as seen in X-ray absorption spectroscopy. This experiment has been designed to identify any effect on contrast
enhancement that might result from employing gold nanoparticles with a variety of sizes. Spherical particles and nanorods
were synthesised for this application. Image contrast enhancement was quantified by contrast-to-noise ratio in computed radiography.
Results are consistent with existing measurements of gold nanoparticle contrast enhancement in radiography. No significant
variation in attenuation depending on particle size was observed. Findings indicate that nanoparticle-based contrast agents
in the size range 4–30 nm-can be synthesised for maximum stability or cell specificity (directed cellular uptake) without
consideration of effect of size on contrast enhancement. 相似文献