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21.
22.
Fransiska Malfait Clair Francomano Peter Byers John Belmont Britta Berglund James Black Lara Bloom Jessica M. Bowen Angela F. Brady Nigel P. Burrows Marco Castori Helen Cohen Marina Colombi Serwet Demirdas Julie De Backer Anne De Paepe Sylvie Fournel-Gigleux Michael Frank Neeti Ghali Cecilia Giunta Rodney Grahame Alan Hakim Xavier Jeunemaitre Diana Johnson Birgit Juul-Kristensen Ines Kapferer-Seebacher Hanadi Kazkaz Tomoki Kosho Mark E. Lavallee Howard Levy Roberto Mendoza-Londono Melanie Pepin F. Michael Pope Eyal Reinstein Leema Robert Marianne Rohrbach Lynn Sanders Glenda J. Sobey Tim Van Damme Anthony Vandersteen Caroline van Mourik Nicol Voermans Nigel Wheeldon Johannes Zschocke Brad Tinkle 《American journal of medical genetics. Part C, Seminars in medical genetics》2017,175(1):8-26
23.
Filip Struyf Jo Nijs Kris De Coninck Marco Giunta Sarah Mottram Romain Meeusen 《Journal of Athletic Training》2009,44(5):519-526
Context:
The reliability of the measurement of the distance between the posterior border of the acromion and the wall and the reliability of the modified lateral scapular slide test have not been studied. Overall, the reliability of the clinical tools used to assess scapular positioning has not been studied in musicians.Objective:
To examine the intertester reliability of scapular observation and 2 clinical tests for the assessment of scapular positioning in musicians.Design:
Intertester reliability study.Setting:
University research laboratory.Patients or Other Participants:
Thirty healthy student musicians at a single university.Main Outcome Measure(s):
Two assessors performed a standardized observation protocol, the measurement of the distance between the posterior border of the acromion and the wall, and the modified lateral scapular slide test. Each assessor was blinded to the other''s findings.Results:
The intertester reliability coefficients (κ) for the observation in relaxed position, during unloaded movement, and during loaded movement were 0.41, 0.63, and 0.36, respectively. The κ values for the observation of tilting and winging at rest were 0.48 and 0.42, respectively; during unloaded movement, the κ values were 0.52 and 0.78, respectively; and with a 1-kg load, the κ values were 0.24 and 0.50, respectively. The intraclass correlation coefficient (ICC) of the measurement of the acromial distance was 0.72 in relaxed position and 0.75 with the participant actively retracting both shoulders. The ICCs for the modified lateral scapular slide test varied between 0.63 and 0.58.Conclusions:
Our results demonstrated that the modified lateral scapular slide test was not a reliable tool to assess scapular positioning in these participants. Our data indicated that scapular observation in the relaxed position and during unloaded abduction in the frontal plane was a reliable assessment tool. The reliability of the measurement of the distance between the posterior border of the acromion and the wall in healthy musicians was moderate. 相似文献24.
Cloning and characterization of two catechol 1,2-dioxygenase genes from Acinetobacter radioresistens S13 总被引:2,自引:0,他引:2
Caposio P Pessione E Giuffrida G Conti A Landolfo S Giunta C Gribaudo G 《Research in microbiology》2002,153(2):69-74
Two novel catechol 1,2-dioxygenase (C 1,2-O) genes have been isolated from an Acinetobacter radioresistens strain that grows on phenol or benzoate as sole carbon and energy source. Designated as catA(A) and catA(B), they encode proteins composed of 314 and 306 amino acids, whose deduced sequences indicate that they have approximately 53% identity, whereas their NH2-terminal and COOH-terminal regions have no sequences in common. This may explain their different thermal and pH stability. Polyclonal antibodies raised against an amino-terminal CatA(A) peptide or the whole CatA(B) protein were used to establish their inducible and differential expression patterns upon bacterial growth in phenol or benzoate. The CatA(A) protein (IsoA) was induced by both phenol and benzoate though with different kinetics, whereas the catA(B) product (IsoB) was constitutively produced at low levels that increased only during growth in the presence of benzoate. 相似文献
25.
Giunta C Nuytinck L Raghunath M Hausser I De Paepe A Steinmann B 《American journal of medical genetics》2002,109(4):284-290
Skin hyperelasticity, tissue fragility with atrophic scars, and joint hypermobility are characteristic for the classical type of Ehlers-Danlos syndrome (EDS). The disease is usually inherited as an autosomal dominant trait; however, recessive mode of inheritance has been documented in tenascin-X-deficient EDS patients. Mutations in the genes coding for collagen alpha1(V) chain (COL5A1), collagen alpha2(V) chain (COL5A2), tenascin-X (TNX), and collagen alpha1(I) chain (COL1A1) have been characterized in patients with classical EDS, thus confirming the suspected genetic heterogeneity. Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am. J. Med. Genet. 90:72-79; Steinmann and Giunta, 2000: Am. J. Med. Genet. 93:342]. Here, we report on a 4-year-old boy with mild classical EDS, born to healthy consanguineous Turkish parents; the mother presented a soft skin, while the father had a normal thick skin. Ultrastructural analysis of the dermis revealed in the patient the typical "cauliflower" collagen fibrils, while in both parents variable moderate aberrations were seen. Mutation revealed the presence of a homozygous Gly530Ser substitution in the alpha1(V) collagen chains in the patient, while both parents were heterozygous for the same substitution. An additional mutation in either the COL5A1 and COL5A2 genes was excluded. Furthermore, haplotype analysis with polymorphic microsatellite markers excluded linkage to the genes coding for alpha3(V) collagen (COL5A3), tenascin-X (TNX), thrombospondin-2 (THBS2), and decorin (DCN). These new findings support further our previous hypothesis that the heterozygous Gly530Ser substitution is disease modifying and now suggest that in the homozygous state it is disease causing. 相似文献
26.
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the results obtained in 9 index patients from 12 unrelated families: three patients were homozygous for three novel mutations (p.Ile454IlefsX2, p.Ala667Thr, and p.His706Arg), four patients were homozygous for the common duplication of exons 10-16, one patient was compound heterozygous for the common duplication and p.Ile454IlefsX2, and one patient was homozygous for p.Arg319X. 相似文献
27.
Sellitto A Galizia G De Fanis U Lieto E Zamboli A Orditura M De Vita F Giunta R Lucivero G Romano C 《Journal of clinical immunology》2011,31(6):1095-1104
CD4+CD25+Foxp3+ regulatory T cells (Treg) specialize in suppressing immune responses. In this study, 47 consecutive colon
cancer patients were subjected to circulating Treg frequency assessment by flow cytometry before and after cancer resection.
Thirty-two healthy subjects served as controls. Circulating Treg frequencies were significantly higher in colon cancer patients
with respect to healthy controls. When patients were subgrouped according to Dukes stages, a linear relationship was observed
between Dukes stages and Treg frequencies. In radically resected patients, Treg frequencies were shown to have significantly
dropped down. Patients with advanced colon cancer were more likely to have significantly higher proportions of circulating
Treg frequencies than Dukes A and B patients when compared to healthy subjects. Of note, nonradically resected patients were
found to display reductions in—but not normalization of—Treg frequencies. These results suggest that cancer itself may be
able to drive Treg recruitment as a strategy of immunoevasion. 相似文献
28.
She‐Qing Zhang Demian Obregon Jared Ehrhart Juan Deng Jun Tian Huayan Hou Brian Giunta Darrell Sawmiller Jun Tan 《Journal of neuroscience research》2013,91(9):1239-1246
Baicalein, a flavonoid isolated from the roots of Scutellaria baicalensis, is known to modulate γ‐aminobutyric acid (GABA) type A receptors. Given prior reports demonstrating benefits of GABAA modulation for Alzheimer's disease (AD) treatment, we wished to determine whether this agent might be beneficial for AD. CHO cells engineered to overexpress wild‐type amyloid precursor protein (APP), primary culture neuronal cells from AD mice (Tg2576) and AD mice were treated with baicalein. In the cell cultures, baicalein significantly reduced the production of β‐amyloid (Aβ) by increasing APP α‐processing. These effects were blocked by the GABAA antagonist bicuculline. Likewise, AD mice treated daily with i.p. baicalein for 8 weeks showed enhanced APP α‐secretase processing, reduced Aβ production, and reduced AD‐like pathology together with improved cognitive performance. Our findings suggest that baicalein promotes nonamyloidogenic processing of APP, thereby reducing Aβ production and improving cognitive performance, by activating GABAA receptors. © 2013 Wiley Periodicals, Inc. 相似文献
29.
30.
Varrassi G Marinangeli F Agrò F Aloe L De Cillis P De Nicola A Giunta F Ischia S Ballabio M Stefanini S 《Anesthesia and analgesia》1999,88(3):611-616
We assessed the relative morphine consumption in a combined analgesic regimen (on-demand morphine plus the nonopioids propacetamol or ketorolac) after gynecologic surgery. Two hundred women randomly received two i.v. doses of propacetamol 2 g or ketorolac 30 mg in a double-blinded, double-dummy trial. Patients were monitored for 12 h, and the following efficacy variables were assessed: total dose of morphine, pain intensity, and global efficacy. Safety and tolerability were evaluated by the occurrence of adverse events, especially the presence and intensity of gastrointestinal symptoms. Hemostatic variables were measured 30 and 60 min after the first infusion; arterial blood pressure, heart and respiratory rates, sedation scores, and renal and hepatic function were also assessed. Total morphine requirements were not significantly different between the propacetamol (10.6 +/- 4.8 mg) and ketorolac (10.2 +/- 4.4 mg) groups. The evolution of pain intensity and the global efficacy also showed similar patterns in the two groups: 70.2% of patients in the propacetamol group rated the efficacy as "good/ excellent" compared with 68.2% in the ketorolac group. There were no clinically significant changes in vital signs or laboratory values and no observed differences between the two groups, although ketorolac slightly, but not significantly, prolonged the bleeding time. Epigastric pain was present in 9% and 15% of patients receiving propacetamol and ketorolac, respectively. There were two adverse events in the propacetamol group and four in the ketorolac group. Propacetamol demonstrates an efficacy similar to that of ketorolac and has an excellent tolerability after gynecologic surgery. IMPLICATIONS: Propacetamol and ketorolac, combined with patient-controlled analgesia morphine, show similar analgesic efficacy after gynecologic surgery. Morphine consumption and pain scores were comparable in the two studied groups. Propacetamol is as effective as ketorolac and has an excellent tolerability after gynecologic surgery. 相似文献