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- 저자 : Alexis Williams (검색결과 4 건)
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Wilson, William C.,Hornig-Do, Hue-Tran,Bruni, Francesco,Chang, Jeong Ho,Jourdain, Alexis A.,Martinou, Jean-Claude,Falkenberg, Maria,Spå,hr, Henrik,Larsson, Nils-Gö,ran,Lewis, Richard J.,Hewit Oxford University Press 2014 Human Molecular Genetics Vol.23 No.23
<P>The p.N478D missense mutation in human mitochondrial poly(A) polymerase (mtPAP) has previously been implicated in a form of spastic ataxia with optic atrophy. In this study, we have investigated fibroblast cell lines established from family members. The homozygous mutation resulted in the loss of polyadenylation of all mitochondrial transcripts assessed; however, oligoadenylation was retained. Interestingly, this had differential effects on transcript stability that were dependent on the particular species of transcript. These changes were accompanied by a severe loss of oxidative phosphorylation complexes I and IV, and perturbation of <I>de novo</I> mitochondrial protein synthesis. Decreases in transcript polyadenylation and in respiratory chain complexes were effectively rescued by overexpression of wild-type mtPAP. Both mutated and wild-type mtPAP localized to the mitochondrial RNA-processing granules thereby eliminating mislocalization as a cause of defective polyadenylation. <I>In vitro</I> polyadenylation assays revealed severely compromised activity by the mutated protein, which generated only short oligo(A) extensions on RNA substrates, irrespective of RNA secondary structure. The addition of LRPPRC/SLIRP, a mitochondrial RNA-binding complex, enhanced activity of the wild-type mtPAP resulting in increased overall tail length. The LRPPRC/SLIRP effect although present was less marked with mutated mtPAP, independent of RNA secondary structure. We conclude that (i) the polymerase activity of mtPAP can be modulated by the presence of LRPPRC/SLIRP, (ii) N478D mtPAP mutation decreases polymerase activity and (iii) the alteration in poly(A) length is sufficient to cause dysregulation of post-transcriptional expression and the pathogenic lack of respiratory chain complexes.</P>
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Colovesical Fistula: Should It Be Considered a Single Disease?
Qamar Hafeez Kiani,Mark L. George,Emin A. Carapeti,Alexis M. P. Schizas,Andrew B. Williams 대한대장항문학회 2015 Annals of Coloproctolgy Vol.31 No.2
different aetiologies. Methods: Retrospective data were collected from 2002 to 2012 and analyzed with SPSS ver. 17. Age, gender, aetiology, management, hospital stay, postoperative complications, and mortality were studied and compared among colovesical fistulae of different aetiologies. Results: A total of 55 patients, 46 males (84%) and 9 females (16%), with a median age of 65 years (interquartile range [IQR], 48–75 years) were studied. Diverticular disease was the most common benign cause and recto-sigmoid cancer the most common malignancy. Anterior resection and bladder repair were the most frequent operations in benign cases, as was total pelvic exenteration in the malignant group. Multiple intestinal loop involvement and subsequent resection were significantly higher in those with Crohn disease than it was in patients of colovesical fistula due to all other causes collectively (60% vs. 6%, P = 0.006). Patients with malignancy had a higher postoperative complication rate than patients who did not (12 [80%] vs. 7 [32%], P = 0.0005). Pelvic collection (11, 22%) was the most frequent early complication (predominantly in the malignant group) whereas incisional hernia (8, 22%) was the most common late complication, with a predominance in the benign group. The median hospital stay was significantly prolonged in the malignant group (32 days; IQR, 17–70 days vs. 16 days; IQR, 11–25 days; P < 0.001). Conclusion: Despite their having similar clinical presentation, colovesical fistulae of various aetiologies differ significantly in management and outcome.
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Troy Li,Akiro H. Duey,Christopher A. White,Amit Pujari,Akshar V. Patel,Bashar Zaidat,Christine S. Williams,Alexis Williams,Carl M. Cirino,Dave Shukla,Bradford O. Parsons,Evan L. Flatow,Paul J. Cagle 대한견주관절의학회 2023 대한견주관절의학회지 Vol.26 No.3
Background: In the past decade, the number of anatomic total shoulder arthroplasty (aTSA) procedures has steadily increased. Patients over 65 years of age comprise the vast majority of recipients, and outcomes have been well documented; however, patients are opting for definitive surgical treatment at younger ages.We aim to report on the effects of age on the long-term clinical outcomes following aTSA. Methods: Among the patients who underwent TSA, 119 shoulders were retrospectively analyzed. Preoperative and postoperative clinical outcome data were collected. Linear regression analysis (univariate and multivariate) was conducted to evaluate the associations of clinical outcomes with age. Kaplan-Meier curves and Cox regression analyses were performed to evaluate implant survival. Results: At final follow-up, patients of all ages undergoing aTSA experienced significant and sustained improvements in all primary outcome measures compared with preoperative values. Based on multivariate analysis, age at the time of surgery was a significant predictor of postoperative outcomes. Excellent implant survival was observed over the course of this study, and Cox regression survival analysis indicated age and sex to not be associated with an increased risk of implant failure. Conclusions: When controlling for sex and follow-up duration, older age was associated with significantly better patient-reported outcome measures. Despite this difference, we noted no significant effects on range of motion or implant survival.
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Does humeral fixation technique affect long-term outcomes of total shoulder arthroplasty?
Troy Li,Kenneth H. Levy,Akiro H. Duey,Akshar V. Patel,Christopher A. White,Carl M. Cirino,Alexis Williams,Kathryn Whitelaw,Dave Shukla,Bradford O. Parsons,Evan L. Flatow,Paul J. Cagle 대한견주관절의학회 2023 대한견주관절의학회지 Vol.26 No.3
Background: For anatomic total arthroscopic repair, cementless humeral fixation has recently gained popularity. However, few studies have compared clinical, radiographic, and patient-reported outcomes between cemented and press-fit humeral fixation, and none have performed follow-up for longer than 5 years. In this study, we compared long-term postoperative outcomes in patients receiving a cemented versus press-fit humeral stem anatomic arthroscopic repair. Methods: This study retrospectively analyzed 169 shoulders that required primary anatomic total shoulder arthroplasty (aTSA). Shoulders were stratified by humeral stem fixation technique: cementation or press-fit. Data were collected pre- and postoperatively. Primary outcome measures included range of motion, patient reported outcomes, and radiographic measures. Results: One hundred thirty-eight cemented humeral stems and 31 press-fit stems were included. Significant improvements in range of motion were seen in all aTSA patients with no significant differences between final cemented and press-fit stems (forward elevation: P=0.12, external rotation: P=0.60, and internal rotation: P=0.77). Patient reported outcome metrics also exhibited sustained improvement through final follow-up. However, at final follow-up, the press-fit stem cohort had significantly better overall scores when compared to the cemented cohort (visual analog score: P=0.04, American Shoulder and Elbow Surgeon Score: P<0.01, Simple Shoulder Test score: P=0.03). Humeral radiolucency was noted in two cemented implants and one press-fit implant. No significant differences in implant survival were observed between the two cohorts (P=0.75). Conclusions: In this series, we found that irrespective of humeral fixation technique, aTSA significantly improves shoulder function. However, within this cohort, press-fit stems provided significantly better outcomes than cemented stems in terms of patient reported outcome scores.
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