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61.
Carlos R Ferreira Kristina Kintzinger Mary E Hackbarth Ulrike Botschen Yvonne Nitschke M Zulf Mughal Genevieve Baujat Dirk Schnabel Eric Yuen William A Gahl Rachel I Gafni Qing Liu Pedro Huertas Gus Khursigara Frank Rutsch 《Journal of bone and mineral research》2021,36(11):2193-2202
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course and possible differences between the causative genes remain unknown. In all, 247 individual records for patients with GACI (from birth to 58.3 years of age) across 19 countries were reviewed. Overall mortality was 54.7% (13.4% in utero or stillborn), with a 50.4% probability of death before the age of 6 months (critical period). Contrary to previous publications, we found that bisphosphonate treatment had no survival benefit based on a start-time matched analysis and inconclusive results when initiated within 2 weeks of birth. Despite a similar prevalence of GACI phenotypes between ENPP1 and ABCC6 deficiencies, including arterial calcification (77.2% and 89.5%, respectively), organ calcification (65.8% and 84.2%, respectively), and cardiovascular complications (58.4% and 78.9%, respectively), mortality was higher for ENPP1 versus ABCC6 variants (40.5% versus 10.5%, respectively; p = 0.0157). Higher prevalence of rickets was reported in 70.8% of surviving affected individuals with ENPP1 compared with that of ABCC6 (11.8%; p = 0.0001). Eleven affected individuals presenting with rickets and without a GACI diagnosis, termed autosomal recessive hypophosphatemic rickets type 2 (ARHR2), all had confirmed ENPP1 variants. Approximately 70% of these patients demonstrated evidence of ectopic calcification or complications similar to those seen in individuals with GACI, which shows that ARHR2 is not a distinct condition from GACI but represents part of the spectrum of ENPP1 deficiency. Overall, this study identified an early mortality risk in GACI patients despite attempts to treat with bisphosphonates, high prevalence of rickets almost exclusive to ENPP1 deficiency, and a spectrum of heterogenous calcification and multiple organ complications with both ENPP1 and ABCC6 variants, which suggests an overlapping pathology. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR). This article has been contributed to by US Government employees and their work is in the public domain in the USA. 相似文献
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63.
Selim G. Gebran Philip J. Wasicek Ledibabari M. Ngaage Arthur J. Nam Mark D. Kligman Yvonne M. Rasko 《Surgery for obesity and related diseases》2021,17(1):177-184
BackgroundBody contouring in the postbariatric surgery patient improves quality of life and daily function.ObjectivesTo determine the risk profile of panniculectomy when performed in select patients at the time of bariatric surgery.SettingMetabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP) participating centers.MethodsWe examined the MBSAQIP database (2016-2017), in which data on 379,544 bariatric surgeries are reported. Concurrent panniculectomy procedures were identified by Current Procedural Technology (CPT) codes. Patient characteristics and in-hospital as well as 30-day complications were compared between the body contouring group and propensity score-matched bariatric surgery controls.ResultsOne hundred twenty-four patients met inclusion criteria and were matched to 248 controls. An infra-umbilical panniculectomy was performed in the majority of patients (n = 94, 75.8%). Most patients received an open rather than laparoscopic bariatric surgery (n = 87, 70.2%). There were no statistically significant differences between 30-day mortality (1.9%), wound complications (11.5%), readmission (12.5%) and reoperation (5.8%) between the 2 groups (P > .05). Wound complications occurred in 11.5% of patients and were associated with prolonged hospital stay (odds ratio 4.65, 95% confidence interval 1.99–10.86, P < .001) and a body mass index (BMI) > 50 (odds ratio 3.19, 95% confidence interval 1.02–9.96, P = .046).ConclusionIn select patients, panniculectomy at the time of bariatric surgery was not associated with increased in-hospital or 30-day adverse outcomes compared with matched bariatric surgery controls. This procedure may be performed in select patients, with awareness that revision surgery may be needed once weight loss stabilizes. 相似文献
64.
Joseph S Puthumana Ledibabari M Ngaage Mimi R Borrelli Erin M Rada Julie Caffrey Yvonne Rasko 《Bulletin of the World Health Organization》2021,99(6):439
ObjectiveTo assess the characteristics of cooking-related burn injuries in children reported to the World Health Organization Global Burn Registry.MethodsOn 1 February 2021, we downloaded data from the Global Burn Registry on demographic and clinical characteristics of patients younger than 19 years. We performed multivariate regressions to identify risk factors predictive of mortality and total body surface area affected by burns.FindingsOf the 2957 paediatric patients with burn injuries, 974 involved cooking (32.9%). More burns occurred in boys (532 patients; 54.6%) than in girls, and in children 2 years and younger (489 patients; 50.2%). Accidental contact and liquefied petroleum caused most burn injuries (729 patients; 74.8% and 293 patients; 30.1%, respectively). Burn contact by explosions (odds ratio, OR: 2.8; 95% confidence interval, CI: 1.4–5.7) or fires in the cooking area (OR: 3.0; 95% CI: 1.3–6.8), as well as the cooking fuels wood (OR: 2.2; 95 CI%: 1.3–3.4), kerosene (OR: 1.9; 95% CI: 1.0–3.6) or natural gas (OR: 1.5; 95% CI: 1.0–2.2) were associated with larger body surface area affected. Mortality was associated with explosions (OR: 7.5; 95% CI: 2.2–25.9) and fires in the cooking area (OR: 6.9; 95% CI: 1.9–25.7), charcoal (OR: 4.6; 95% CI: 2.0–10.5), kerosene (OR: 3.9; 95% CI: 1.4–10.8), natural gas (OR: 3.0; 95% CI: 1.5–6.1) or wood (OR: 2.8; 95% CI: 1.1–7.1).ConclusionPreventive interventions directed against explosions, fires in cooking areas and hazardous cooking fuels should be implemented to reduce morbidity and mortality from cooking-related burn injuries. 相似文献
65.
Nadia Falah Alissa Terry Amna Umer Marlee Kastner Kathryn L. Oliverio Nicole Matthews Kimberly M. Kelly Yvonne Kellar-Guenther 《American journal of medical genetics. Part A》2023,191(4):1013-1019
Telegenetics has shifted some genetic testing performance to the patient's own home, with the patient collecting his/her own sample. Little is known regarding the rate of test completion of such home-based genetic testing. This study compared the completion rate of home-based genetic tests before and after a reminder system was implemented. In the pre-reminder group, we reviewed medical records for patients who were seen via telegenetics and agreed to complete genetic testing using an at-home test kit. In the reminder group, a prospective analysis of the genetic test completion rate was performed taking a clinical quality improvement approach where three reminders were provided for patients who had not submitted their at-home genetic testing. Our study included 94 patients' records: 46 pre-reminders and 48 reminders. The lab received 24 patient samples (52.2%) in the pre-reminder group. In the reminder group, 30 patients returned their kits (62.5%). Despite a higher percentage of patients completing their test in the reminder group, there was no statistically significant difference between the pre-reminder and reminder groups. The rate of test completion in our pilot test was statistically similar between the two groups, but the reminder group was trending toward a higher percent of completion which may be clinically meaningful. 相似文献
66.
Van Leeuwen YD Düsman H Mol SS Pollemans MC Drop MJ Grol RP Van Der Vleuten CP 《Advances in health sciences education : theory and practice》1997,2(1):61-70
Objectives: The relation between the content of postgraduate training for general practice and the outcome in terms of the growth in knowledge of trainees was investigated. The training variables included were: (1) the number of patients seen per day, (2) the trainer, (3) the practice and (4) the theoretical curriculum.Methods: Subjects were 58 trainee-trainer pairs. Growth in knowledge was assessed by two written tests administered with eight months interval. Training variables were evaluated by means of questionnaires and logbook-registration. The correlation was explored between each of the training variables and the knowledge tests scores. To correct for interactional effects, a step-wise multiple regression analysis was performed with the second test as dependent variable and the first test as well as the training variables as independent variables.Results: Significant growth in knowledge was demonstrated. Non of all training variables investigated explained the variance in scores on the second test equally good or better than the scores on the entry test.Conclusions: The impact of the separate training-components on the growth in knowledge, remains unclear. We may speculate, that the sort of knowledge assessed with the written literature based true/false test is different from the sort of knowledge transferred during every day training: evidence based knowledge versus experience based knowledge. Equally valid is the conclusion that these findings fit into the theory that in adult learning the outcome is more learner than teacher dependent.This revised version was published online in September 2005 with corrections to the Cover Date. 相似文献
67.
Predictors of occult metastasis in clinical stage I nonseminoma: a systematic review. 总被引:3,自引:0,他引:3
Yvonne Vergouwe Ewout W Steyerberg Marinus J C Eijkemans Peter Albers J Dik F Habbema 《Journal of clinical oncology》2003,21(22):4092-4099
PURPOSE: Patients with clinical stage I nonseminomatous testicular germ cell tumor should ideally receive adjuvant therapy only when they are at high risk for occult metastasis. We aimed to quantify the importance of predictors for occult metastasis by performing a systematic review of the relevant literature. In addition, we reviewed published multivariable models and risk-adapted treatment policies. PATIENTS AND METHODS: We identified 23 publications between 1979 and 2001, reporting a total of 2,587 patients. Twenty-nine percent of the patients (759 of 2,587 patients) had occult metastases, which was diagnosed either at retroperitoneal lymph node dissection (n = 193) or during follow-up (n = 566). Odds ratios (OR) were pooled using meta-analysis techniques. RESULTS: The presence of vascular invasion of the primary tumor cells had the strongest effect (OR, 5.2; 95% CI, 4.0 to 6.8). Immunohistochemical staining of the primary tumor cells with the MIB-1 monoclonal antibody showing proliferative activity was a promising predictor (OR, 4.7; 95% CI, 2.0 to 11). Intermediate effects were found for embryonal carcinoma in the primary tumor (OR, 2.9; 95% CI, 2.0 to 4.4) and a high pathologic stage of the tumor (OR, 2.6; 95% CI, 1.8 to 3.8). Size of the primary tumor and age of the patient had weaker though also statistically significant associations with occult metastasis. Until now, multivariable models often included vascular invasion and embryonal carcinoma with one or two weaker predictors. None of the published risk-adapted treatment policies included MIB-1 staining. CONCLUSION: Several strong predictors for occult metastasis were identified. A risk-adapted treatment policy should be developed that incorporates all relevant predictors so that adjuvant therapy is targeted better to those with occult metastases. 相似文献
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Dr Simon F. Crowe Dr Yvonne Skinner Dr Ian Freckelton 《Psychiatry, Psychology and Law》2013,20(2):293-300
Forensic neuropsychology: Fundamentals and practice J Sweet (Ed.) Swets and Zeitlingen Lisse, Netherlands, 1999 Neuropsychological effects of the psychiatric disorders Crowe, Simon E. Harwood Academic Publishers, Amsterdam, 1998, 177pp. A difficult case: An autobiography of a Chinese miner on the central Victorian goldfields Jong Ah Siug, translated, annotated and historical introduction by Ruth Moore and John Tully Jim Crow Press, Daylesford, 2000, paperback, 148pp, $32.95. 相似文献