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21.
Liang Wang Jinfu Lin Fu Xiong Yingyin Liang Huan Li Ziyu Liao Cheng Zhang 《Neuromuscular disorders : NMD》2021,31(5):456-461
Twins with Duchenne muscular dystrophy (DMD) have been widely studied. We report the first rare case of monozygotic triplets with DMD who shared consistent phenotypes, including delayed motor and language milestones, muscle wasting and weakness, joint contracture, and lumbar lordosis. Muscle magnetic resonance imaging and biopsy revealed the similar muscle injury characteristics and dystrophin absence. Short tandem repeat analysis confirmed monozygosity. A de novo mutation (exon 49–52 deletion) was found in the triplets but not in their mother. Treatment included prednisone, idebenone, and rehabilitation management. At the 2-year follow-up, motor function had deteriorated, and muscle fatty infiltration was more extensive and severe. Our case offers a unique opportunity for genetic and therapeutic research. Furthermore, it highlights the critical role of genetic factors in DMD phenotypes and provides a potential choice for treatment observations. 相似文献
22.
Daniel J. Snyder Thomas R. Kroshus Aakash Keswani Evan B. Garden Karl M. Koenig Kevin J. Bozic David S. Jevsevar Jashvant Poeran Calin S. Moucha 《The Journal of arthroplasty》2019,34(4):613-618
Background
Nursing Home Compare (NHC) ratings, created and maintained by Medicare, are used by both hospitals and consumers to aid in the skilled nursing facility (SNF) selection process. To date, no studies have linked NHC ratings to actual episode-based outcomes. The purpose of this study was to evaluate whether NHC ratings are valid predictors of 90-day complications, readmission, and bundle costs for patients discharged to an SNF after primary total joint arthroplasty (TJA).Methods
All SNF-discharged primary TJA cases in 2017 at a multihospital academic health system were queried. Demographic, psychosocial, and clinical variables were manually extracted from the health record. Medicare NHC ratings were then collected for each SNF. For patients in the Medicare bundle, postacute and total bundle cost was extracted from claims.Results
Four hundred eighty-eight patients were discharged to a total of 105 unique SNFs. In multivariate analysis, overall NHC rating was not predictive of 90-day readmission/major complications, >75th percentile postacute cost, or 90-day bundle cost exceeding the target price. SNF health inspection and quality measure ratings were also not predictive of 90-day readmission/major complications or bundle performance. A higher SNF staffing rating was independently associated with a decreased odds for >75th percentile 90-day postacute spend (odds ratio, 0.58; P = .01) and a 90-day bundle cost exceeding the target price (odds ratio = 0.69; P = .02) but was similarly not predictive of 90-day readmission/complications.Conclusion
Results of our study suggest that Medicare's NHC tool is not a useful predictor of 90-day costs, complications, or readmissions for SNFs within our health system. 相似文献23.
24.
B. Kowall N. Lehmann A.A. Mahabadi S. Moebus R. Erbel K.H. Jöckel A. Stang 《Nutrition, metabolism, and cardiovascular diseases : NMCD》2019,29(3):228-235
Background and aims
There is controversy on the potentially benign nature of metabolically healthy obesity (MHO), i.e., obese persons with few or no metabolic abnormalities. So far, associations between MHO and coronary artery calcification (CAC), a measure of subclinical atherosclerosis, have mainly been studied cross-sectionally in Asian populations. We assessed cross-sectional and longitudinal MHO CAC associations in a Caucasian population.Methods and results
In the Heinz Nixdorf Recall Study, a population-based cohort study in Germany, CAC was assessed by electron-beam tomography at baseline and at 5-year follow-up. For cross-sectional and longitudinal analyses, we included 1585 participants free of coronary heart disease at baseline, with CAC measurements at baseline and at follow-up, and with either normal weight (BMI 18.5–24.9 kg/m2) or obesity (BMI ≥30.0 kg/m2) at baseline. We used four definitions of MHO. In our main analysis, we defined obese persons as metabolically healthy if they met ≤1 of the NCEP ATP III criteria for the definition of the metabolic syndrome – waist circumference was not taken into account because of collinearity with BMI.Persons with MHO had a higher prevalence of CAC than metabolically healthy normal weight (MHNW) persons (prevalence ratio = 1.59 (95% confidence interval 1.38–1.84) for the main analysis). Persons with MHO had slightly larger odds of CAC progression than persons with MHNW (odds ratios ranged from 1.17 (0.69–1.99) to 1.48 (1.02–2.13) depending on MHO definition and statistical approach).Conclusion
Our analyses on MHO CAC associations add to the evidence that MHO is not a purely benign health condition. 相似文献25.
Sabita Jiwnani Priya Ranganathan Vijaya Patil Vandana Agarwal George Karimundackal C.S. Pramesh 《The Journal of thoracic and cardiovascular surgery》2019,157(1):380-386
Objectives
Post-thoracotomy pain leads to patient discomfort, pulmonary complications, and increased analgesic use. Intercostal nerve injury during thoracotomy or its entrapment during closure can contribute to post-thoracotomy pain. We hypothesized that a modified technique of posterolateral thoracotomy and closure, preserving the intercostal neurovascular bundle, would reduce acute and chronic post-thoracotomy pain.Methods
We randomized 90 patients undergoing posterolateral thoracotomy for pulmonary resection at a tertiary level oncology center to standard posterolateral (control arm) or modified nerve-sparing thoracotomy. All patients received morphine via patient-controlled analgesia pumps. The primary outcome was the worst postoperative pain score in the first 3 postoperative days. Secondary outcomes included the average pain score and analgesic requirements in the first 3 postoperative days and the incidence of post-thoracotomy pain 6 months after surgery.Results
No significant differences were seen between the groups in acute or chronic post-thoracotomy measured by the numeric rating scale. There was no difference seen in the worst (mean) postoperative pain scores (3.71 vs 3.83, difference 0.12; 99% confidence interval [CI], ?0.7 to +0.9; P = .7), average (mean) pain scores in the first 3 postoperative days (1.77 vs 1.85, difference 0.08; 99% CI, ?0.4 to +0.6; P = .69), mean consumption of morphine (mg/kg) (1.45 vs 1.40, difference ?0.05; 99% CI, ?0.4 to +0.3; P = .73), or incidence of chronic postoperative pain (37.8% vs 40%, difference 4.9%; 99% CI, ?22.8 to +30.7%; P = .73).Conclusions
The modified nerve-sparing thoracotomy technique does not reduce post-thoracotomy pain compared with standard posterolateral thoracotomy. 相似文献26.
27.
Aasha I. Hoogland Hailey W. Bulls Brian D. Gonzalez Brent J. Small Lianqi Liu Joseph Pidala Heather S.L. Jim Asmita Mishra 《Journal of pain and symptom management》2019,57(5):952-960.e1
Context
Quality of life (QoL) is increasingly recognized as an important outcome of cancer treatment. Previous studies have examined clinical predictors of QoL, but with the increasing prevalence of wearable sensors that monitor sleep and activity patterns, further investigation into whether these behaviors are predictive of post-treatment QoL is now feasible. Among patients receiving aggressive cancer treatment such as hematopoietic cell transplantation (HCT), analysis of circadian rhythms (24-hour patterns of sleep and activity) via wearable sensors is limited.Objective
To evaluate the relationship between overall QoL and circadian rhythms in patients receiving allogeneic HCT.Methods
Patients wore an ActiGraph GT3X (Pensacola, FL) activity monitor for at least 72 hours before the initiation of conditioning chemotherapy and transplantation and completed a QoL (Functional Assessment of Cancer Therapy-General [FACT-G]) assessment. QoL assessments were also completed 1, 3, and 6 months after HCT.Results
Patients (n = 45, M age = 55) were mostly male (66%) with a total FACT-G score of 80.96 (SD = 16.05) before HCT. Mixed models revealed robust cross-sectional associations between overall QoL and multiple circadian rhythmicity parameters, including durations of high physical activity, overall circadian rhythmicity, and earlier starts of daily activity (P's < .01). Recovery of QoL after transplant was predicted by longer pre-transplant durations of high physical activity (P = .04) and earlier evening retirement (P = .04).Conclusion
Our findings suggest that wearable sensor information is a promising method of predicting recovery of QoL after HCT. Additional studies are needed to confirm these findings in a larger sample. 相似文献28.
Amgad El Mekabaty Monica S. Pearl Bommy Mershon Ivor Berkowitz Philippe Gailloud Thierry A.G.M. Huisman 《Journal of neuroradiology. Journal de neuroradiologie》2019,46(3):214-221
Background and purpose
The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation with a higher morbidity and mortality, especially in neonates. Ultrasound, CT and MR are usually used in diagnosis and treatment monitoring of these disorders. In this current study, we aim to examine utility of SWI in evaluation of treatment response in infants with VGAM.Materials and methods
We performed a retrospective chart analysis of children with VGAM in our institution between January 2008 and December 2016. Inclusion criteria included; confirmed VGAM on DSA; available SWI sequence at baseline and at follow up after at least a single embolization session; age at initial MR of 18?years or younger. Signal intensity and Angioarchitecture of VGAM and cerebral veins on SWI, as well as hydrocephalus and clinical outcome were evaluated.Results
Of 11 patients identified with VGAM in our institution, 5 children (3 males and 2 females) satisfied the inclusion criteria. The average age at initial MR was 29?days (range 1–120). Fourteen MRI were available for review. All children had VGAM of mural type. Intramedullary veins were dilated and SWI-hypointense in all children, while subependymal and sulcal veins were dilated and SWI-hypointense in 4 patients on initial MRI. On the first available follow up MRI, cerebral veins have mostly normalized in 4 children and remained mostly dilated and SWI-hypointense in 1 child; even after complete treatment of the VGAM.Conclusion
Our preliminary findings show that SWI seems to offer a beneficial non-invasive tool in evaluating passive venous congestion patterns in pediatric patients with VGAM. It remains to be determined in larger studies, the clinical significance of these SWI changes. 相似文献29.
Li Zhang Yuli Kang Shujun Chen Li Wang Min Jiang Leihong Xiang 《Journal of dermatological science》2019,93(2):92-100
Background
Vitiligo is an autoimmune disease with varying pathological features. Activation of the CCL20-CCR6 axis plays an important role in chronic inflammatory diseases. However, whether CCL20-CCR6 and Th1/17 cells are indicative of active vitiligo is unclear.Objective
To investigate the potential role of CCL20 and the involvement of Th1/17 and Tc1/17 cells in the mechanism in vitiligo.Methods
One hundred patients with vitiligo, and 20 healthy controls were included. The serum and blister fluid IL-17, IFN-γ, CCL20, and CXCL10 were studied using enzyme-linked immunosorbent assays. The numbers of Th1/17 cells and Tc1/17 cells in circulation were quantified using flow cytometry. CCR6 mRNA in peripheral blood mononuclear cells (PBMCs) was analyzed by real-time polymerase chain reaction and the protein level was confirmed by western blotting. CCR6 and CCL20 expression in lesions was analyzed by immunohistochemistry.Results
The serum CCL20 level was significantly elevated in patients with vitiligo. The level of serum CCL20 was higher in active than in the stable stage, which correlated positively with the Vitiligo European Task Force spreading score and the Vitiligo Area Scoring Index score. Patients with active vitiligo had elevated numbers of circulating Th1/17 cells and Tc1/17 cells, and upregulated expression of CCR6 in PBMCs and lesions. After effective treatment, the level of CCL20 in sera and blister fluid was significantly decreased, as were the numbers of circulating Th1/17 cells and Tc1/17 cells.Conclusion
CCL20 might be a vital biomarker of active vitiligo, and circulating Th1/17 and Tc1/17 cells are involved in the pathogenesis of vitiligo. 相似文献30.
David C. Johnson Steven S. Raman Sohrab A. Mirak Lorna Kwan Amirhossein M. Bajgiran William Hsu Cleo K. Maehara Preeti Ahuja Izak Faiena Aydin Pooli Amirali Salmasi Anthony Sisk Ely R. Felker David S.K. Lu Robert E. Reiter 《European urology》2019,75(5):712-720