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81.
OBJECTIVE: To assess the long-term effects on functional and mobility outcomes of two exercise interventions for the management of patients with ankylosing spondylitis. DESIGN: In an extended 12-mo follow-up of a randomized controlled trial, 40 patients who were diagnosed with ankylosing spondylitis according to the modified criteria of New York, allocated to control or experimental groups using a random numbers table, and who performed their respective exercise program at least three times per month, were included in this long-term study. The control group was treated during 15 sessions with a conventional exercise regimen in ankylosing spondylitis, whereas the experimental group received 15 sessions of exercises based on the treatment of the shortened muscle chains following the guidelines described by the Global Posture Reeducation method. These patients were followed up and assessed again 1 yr after entering the study, re-applying the same validated indexes: BASMI (Bath Ankylosing Spondylitis Metrology Index [tragus to wall distance, modified Schober test, cervical rotation, lumbar side flexion, and intermalleolar distance]), BASDAI (Bath Ankylosing Spondylitis Disease Activity Index), and BASFI (Bath Ankylosing Spondylitis Functional Index). RESULTS: The intragroup comparison between follow-up and post-intervention data showed that both groups decrease their clinical and functional measures during the follow-up period. This decrease was only significant for lumbar side flexion and intermalleolar distance measurements, being more significant in the control group (P = 0.001 and P = 0.002, respectively). Intragroup differences between follow-up and pre-intervention assessments revealed that improvements in all mobility measures of the BASMI index and in the BASFI index were partially maintained at the 12-mo follow-up in the experimental group but not in the control group. The intergroup comparison (unpaired t test analysis) between changes on each outcome during the long-term follow-up (post-follow-up; and pre-follow-up) showed no significant differences in the decrease between post-intervention and follow-up data between the study groups. On the other hand, the intergroup comparison between pre-intervention and follow-up data revealed significant differences in almost all mobility measures of the BASMI index (except for cervical rotation) and in the BASFI index, in favor of the experimental group. CONCLUSIONS: An exercise regimen based on the Global Posture Reeducation method and focusing on specific strengthening and flexibility exercises of the shortened muscle chains offers promising short- and long-term results in the management of patients who have ankylosing spondylitis.  相似文献   
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Objective

Lung transplantation (LT) has been proposed as a treatment for advanced interstitial lung disease (ILD) and/or pulmonary hypertension (PH) associated to systemic sclerosis (SSc) but few studies have been reported. The aim of this study was to describe the clinical features, complications and survival of a single-center cohort of patients with SSc that underwent LT and to compare their survival with a group of non-SSc transplanted patients.

Methods

Fifteen patients with SSc were transplanted between May 2005 and April 2015. Standard international criteria were used to determine eligibility for LT. The severity of gastroesophageal involvement was not considered as a major contraindication if symptoms were under control.

Results

Eight (53.3%) patients had diffuse cutaneous SSc. Eleven (73%) underwent bilateral LT. The main indication for LT was ILD, with or associated PH in 4 cases. Acute cellular rejection and infections were the most frequent complications. Functional lung tests tended to keep stable after transplantation. Median survival was 2.4 years (Q1–Q3: 0.7–3.7 years). We did not find differences in survival between patients transplanted with SSc versus those transplanted due to non-SSc ILD or PH. SSc complications were scarce with no patient developing PH after LT.

Conclusions

LT was an effective treatment for advanced ILD and/or PH associated to SSc in our study. Gastroesophageal reflux was not a limitation for LT in SSc in this study. Complications and survival did not differ from non-SSc patients undergoing LT.  相似文献   
88.

Purpose of Review

The term osteopetrosis refers to a group of rare skeletal diseases sharing the hallmark of a generalized increase in bone density owing to a defect in bone resorption. Osteopetrosis is clinically and genetically heterogeneous, and a precise molecular classification is relevant for prognosis and treatment. Here, we review recent data on the pathogenesis of this disorder.

Recent Findings

Novel mutations in known genes as well as defects in new genes have been recently reported, further expanding the spectrum of molecular defects leading to osteopetrosis.

Summary

Exploitation of next-generation sequencing tools is ever spreading, facilitating differential diagnosis. Some complex phenotypes in which osteopetrosis is accompanied by additional clinical features have received a molecular classification, also involving new genes. Moreover, novel types of mutations have been recognized, which for their nature or genomic location are at high risk being neglected. Yet, the causative mutation is unknown in some patients, indicating that the genetics of osteopetrosis still deserves intense research efforts.
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Infective endocarditis (IE) is the cardiac disease with the highest rates of mortality. New biomarkers that are able to identify patients at risk for death are required to improve patient management and outcome. This study aims to investigate if cytokines, chemokines and growth factors measured at IE diagnosis can predict mortality. Patients with definite IE, according to the Duke’s modified criteria, were included. Using high-performance Luminex assay, 27 different cytokines, chemokines and growth factors were analyzed. Machine learning techniques were used for the prediction of death and subsequently creating a decision tree, in which the cytokines, chemokines and growth factors were analyzed together with C-reactive protein (CRP). Sixty-nine patients were included, 41 (59%) male, median age 54 [interquartile range (IQR) = 41–65 years] and median time between onset of the symptoms and diagnosis was 12 days (IQR = 5–30 days). The in-hospital mortality was 26% (n = 18). Proinflammatory cytokines interkeukin (IL)-15 and C-C motif chemokine ligand (CCL4) were found to predict death, adding value to CRP levels. The decision tree predicted correctly the outcome of 91% of the patients at hospital admission. The high-risk group, defined as CRP ≥ 72 mg/dL, IL-15 ≥ 5·6 fg/ml and CCL4 ≥ 6·35 fg/ml had an 88% in-hospital mortality rate, whereas the patients classified as low-risk had a mortality rate of 8% (P = < 0·001). Cytokines IL-15 and CCL4 were predictors of mortality in IE, adding prognostic value beyond that provided by CRP levels. Assessment of cytokines has potential value for clinical risk stratification and monitoring in IE patients.  相似文献   
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