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Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica

Onoufriadis, Alexandros; Hsu, Chao-Kai; Eide, Cindy R; Nanda, Arti; Orchard, Guy E; Tomita, Kenji; Sheriff, Adam; Scott, William; Tierney, Chloe; Lee, John Y W; Gomaa, Nesrin S; Desomchoke, Rasthawathana; Lwin, Su M; Tu, Wei-Ting; Chen, Liang-Yu; Huang, Hsin-Yu; Chao, Sheau-Chiou; Yu-Yun Lee, Julia; Bare, Yonis; Hayday, Thomas; Guy, Alyson L; Liu, Lu; Lees, Chris; Hirdler, Tessa; Lovell, Patricia; Xia, Lily; Dayrit, Johannes F; Calonje, Eduardo; Simpson, Michael A; Tolar, Jakub; Parsons, Maddy; McGrath, John A
PMID: 31226264
ISSN: 1523-1747
CID: 3954712

Mental health training programmes for non-mental health trained professionals coming into contact with people with mental ill health: a systematic review of effectiveness

Booth, Alison; Scantlebury, Arabella; Hughes-Morley, Adwoa; Mitchell, Natasha; Wright, Kath; Scott, William; McDaid, Catriona
BACKGROUND:The police and others in occupations where they come into close contact with people experiencing/with mental ill health, often have to manage difficult and complex situations. Training is needed to equip them to recognise and assist when someone has a mental health issue or learning/intellectual disability. We undertook a systematic review of the effectiveness of training programmes aimed at increasing knowledge, changing behaviour and/or attitudes of the trainees with regard to mental ill health, mental vulnerability, and learning disabilities. METHODS:Databases searched from 1995 onwards included: ASSIA, Cochrane Central Register of Controlled Clinical Trials (CENTRAL), Criminal Justice Abstracts, Embase, ERIC, MEDLINE, PsycINFO, Social Science Citation Index. Courses, training, or learning packages aimed at helping police officers and others who interact with the public in a similar way to deal with people with mental health problems were included. Primary outcomes were change in practice and change in outcomes for the groups of people the trainees come into contact with. Systematic reviews, randomised controlled trials (RCTs) and non- randomised controlled trials (non-RCTs) were included and quality assessed. In addition non-comparative evaluations of training for police in England were included. RESULTS:From 8578 search results, 19 studies met the inclusion criteria: one systematic review, 12 RCTs, three prospective non-RCTs, and three non-comparative studies. The training interventions identified included broad mental health awareness training and packages addressing a variety of specific mental health issues or conditions. Trainees included police officers, teachers and other public sector workers. Some short term positive changes in behaviour were identified for trainees, but for the people the trainees came into contact with there was little or no evidence of benefit. CONCLUSIONS:A variety of training programmes exist for non-mental health professionals who come into contact with people who have mental health issues. There may be some short term change in behaviour for the trainees, but longer term follow up is needed. Research evaluating training for UK police officers is needed in which a number of methodological issues need to be addressed. TRIAL REGISTRATION:Protocol registration number: PROSPERO: CRD42015015981 .
PMCID:5445268
PMID: 28545425
ISSN: 1471-244x
CID: 3673732

Total knee replacement in young, active patients: long-term follow-up and functional outcome: a concise follow-up of a previous report

Long, William J; Bryce, Christopher D; Hollenbeak, Christopher S; Benner, Rodney W; Scott, W Norman
Concern exists regarding the long-term durability and effectiveness of total knee arthroplasty in young patients. We reviewed our experience with total knee arthroplasty in patients fifty-five years old and younger with severe osteoarthritis to determine the long-term outcomes. One hundred and fourteen total knee arthroplasties were performed in eighty-eight patients at an average patient age of fifty-one years. Clinical outcomes, survival analysis, and radiographs were all reviewed at the most recent follow-up. One hundred and eight knees (eighty-four patients) were followed up from May 2011 to 2012. At thirty years, survivorship without revision for any cause was 70.1% (twenty-five revisions) and survivorship with failure defined as aseptic revision of the tibial or femoral components was 82.5%. At thirty years, a significant difference existed in the survivorship free from tibial or femoral aseptic revision (p = 0.003) between the non-modular Insall-Burstein I component (92.3%) and the modular Insall-Burstein II component (68.3%). All patients were evaluated at an average time from the index total knee arthroplasty to the latest follow-up of 25.1 years (range, twenty to thirty-five years). Clinical evaluation was obtained in thirty-six patients with forty-five total knee arthroplasties. The average Hospital for Special Surgery score had improved from 57.9 points preoperatively to 85.3 points. The average Knee Society score was 87.4 points and the average Knee Society functional score was 62.1 points; the average knee motion was 110 degrees . The mean Tegner and Lysholm activity score improved from 1.5 points preoperatively to 3.0 points. Radiographic review of forty-two knees that had undergone total knee arthroplasty demonstrated a mean 3.2 degrees of valgus, with no cases of radiographically loose components. Total knee arthroplasty with use of a cemented posterior stabilized system, particularly a non-modular Insall-Burstein I design, was an effective treatment option with durable results for end-stage symptomatic osteoarthritis in this young cohort. These data should provide comparison for modern total knee arthroplasties and alternative procedures in young patients.
PMID: 25232089
ISSN: 1535-1386
CID: 1462682

Unicompartmental knee arthritis

Long, William J; Scott, W Norman
PMID: 24274854
ISSN: 0278-5919
CID: 949452

Clinical and Genetic Characteristics of Participants with Juvenile PD: The CORE-PD Study [Meeting Abstract]

Alcalay, Roy; Rosado, Llency; Mejia-Santana, Helen; Orbe-Reilly, Martha; Caccappolo, Elise; Tang, Mingxin; Ruiz, Diana; Ross, Barbara; Verbitsky, Miguel; Kisselev, Sergey; Louis, Elan; Comella, Cynthia; Colcher, Amy; Jennings, Danna; Nance, Martha; Bressman, Susan; Scott, William; Tanner, Caroline; Andrews, Howard; Waters, Cheryl; Fahn, Stanley; Cote, Lucien; Frucht, Steven; Ford, Blair; Rezak, Michael; Novak, Kevin; Friedman, Joseph; Pfeiffer, Ronald; Marsh, Laura; Hiner, Bradley; Siderowf, Andrew; Payami, Haydeh; Molho, Eric; Nutt, John; Factor, Stewart; Ottman, Ruth; Clark, Lorraine; Marder, Karen
ISI:000303204803104
ISSN: 0028-3878
CID: 2785692

The Effect of Parkin Mutation Status on Cognitive Functioning in EOPD Patients with Long Disease Duration: The CORE-PD Study [Meeting Abstract]

Caccappolo, Elise; Alcalay, Roy; Marder, Karen; Tang, Mingxin; Rosado, Llency; Mejia-Santana, Helen; Ruiz, Diana; Orbe-Reilly, Martha; Ross, Barbara; Verbitsky, MIguel; Kisselev, Sergey; Louis, Elan; Colcher, Amy; Comella, Cynthia; Siderowf, Andrew; Jennings, Danna; Nance, Martha; Bressman, Susan; Scott, William; Tanner, Caroline; Mickel, Susan; Waters, Cheryl; Fahn, Stanley; Cote, Lucien; Frucht, Steven; Ford, Blair; Rezak, Michael; Friedman, Joseph; Marsh, Laura; Hiner, Bradley; Payami, Haydeh; Molho, Eric; Ottman, Ruth; Clark, Lorraine
ISI:000303204803230
ISSN: 0028-3878
CID: 2785702

Estimating the Cumulative Risk of PD in Carriers of Parkin Mutations: The CORE-PD Study [Meeting Abstract]

Marder, Karen; Tang, Ming-Xin; Alcalay, Roy; Rosado, Llency; Mejia-Santana, Helen; Caccappolo, Elise; Ruiz, Diana; Orbe-Reilly, Martha; Ross, Barbara; Louis, Elan; Comella, Cynthia; Colcher, Amy; Siderowf, Andrew; Jennings, Danna; Nance, Martha; Rezak, Michael; Novak, Kevin; Friedman, Joseph; Pfeiffer, Ronald; Marsh, Laura; Hiner, Bradley; Payami, Haydeh; Molho, Eric; Factor, Stewart; Bressman, Susan; Scott, William; Tanner, Caroline; Mickel, Susan; Andrews, Howard; Waters, Cheryl; Cote, Lucien; Frucht, Steven; Ford, Blair; Verbitsky, MIguel; Kisselev, Sergey; Ottman, Ruth; Clark, Lorraine
ISI:000303204802091
ISSN: 0028-3878
CID: 2785682

15-year experience with soft tissue expansion in total knee arthroplasty

Long, William J; Wilson, Charles H; Scott, Susan M Craig; Cushner, Fred D; Scott, W Norman
Preoperative identification of a knee at risk for wound healing after total knee arthroplasty (TKA) allows the surgeon to apply a soft tissue expansion technique to expand the available tissue for closure and healing after TKA. A consecutive series of 64 soft tissue expansions were performed for 59 cases of conflicting incisions and 5 cases of severe angular deformity, with a mean of 3.5 previous surgeries. An average 2.1 expanders were used for a total volume of 359 mL. Expansion took a mean of 70 days during which 14 minor and 7 major complications occurred. There were 8 post-TKA complications, 5 of which required a return to the operating room. Soft tissue expansion is a safe, prophylactic technique that provides adequate coverage in this complex subset of patients.
PMID: 21855275
ISSN: 0883-5403
CID: 949472

Development of a new Knee Society scoring system

Noble, Philip C; Scuderi, Giles R; Brekke, Adam C; Sikorskii, Alla; Benjamin, James B; Lonner, Jess H; Chadha, Priya; Daylamani, Daniel A; Scott, W Norman; Bourne, Robert B
BACKGROUND: The Knee Society Clinical Rating System was developed in 1989 and has been widely adopted. However, with the increased demand for TKA, there is a need for a new, validated scoring system to better characterize the expectations, satisfaction, and physical activities of the younger, more diverse population of TKA patients. QUESTIONS/PURPOSES: We developed and validated a new Knee Society Scoring System. METHODS: We developed the new knee scoring system in two stages. Initially, a comprehensive survey of activities was developed and administered to 101 unilateral TKA patients (53 women, 48 men). A prototype knee scoring instrument was developed from the responses to the survey and administered to 497 patients (204 men, 293 women; 243 postoperatively, 254 preoperatively) at 15 medical institutions within the United States and Canada. Objective and subjective data were analyzed using standard statistical and psychometric procedures and compared to the Knee Injury and Osteoarthritis Score and SF-12 scores for validation. Based on this analysis, minor modifications led to the new Knee Society Scoring System. RESULTS: We found the new Knee Society Scoring System to be broadly applicable and to accurately characterize patient outcomes after TKA. Statistical analysis confirmed the internal consistency, construct and convergent validity, and reliability of the separate subscale measures. CONCLUSIONS: The new Knee Society Scoring System is a validated instrument based on surgeon- and patient-generated data, adapted to the diverse lifestyles and activities of contemporary patients with TKA. This assessment tool allows surgeons to appreciate differences in the priorities of individual patients and the interplay among function, expectation, symptoms, and satisfaction after TKA.
PMCID:3237986
PMID: 22065240
ISSN: 0009-921x
CID: 949602

The new Knee Society Knee Scoring System

Scuderi, Giles R; Bourne, Robert B; Noble, Philip C; Benjamin, James B; Lonner, Jess H; Scott, W N
PMCID:3237971
PMID: 22045067
ISSN: 1528-1132
CID: 3940942