Citations

ObjectivesThis study evaluated the feasibility of real time three‐dimensional transesophageal echocardiography (RT3DTEE) in the diagnosis and localization of aortic valve perforation.MethodsAortic valve perforation was diagnosed in 12 patients by multiplane two‐dimensional transesophageal echocardiography (2DTEE). We studied the feasibility of RT3DTEE using en face view in detection and precise localization of the aortic valve perforation. The artifactual dropout on RT3D images of aortic valve can mimic perforation and lead to a false positive diagnosis. We defined a true perforation as the hole with thicker margin and its visibility in both systole and diastole. We combined the RT3D images from 10 subjects with relatively normal aortic valve without perforation (test group) with the 12 with perforation for a blind review by an experienced echocardiographer.ResultsThere were 14 perforations in 12 patients. The perforation was located in the left coronary cusp in 1, the noncoronary cusp in 7, and the right coronary cusp in 6 patients. In the subgroup of 9 patients with 11 perforations, all were confirmed at surgery. In test group the artifact mimicking perforation was frequently encountered (7/10 or 70%). However, they did not meet the criteria for true perforation except in 1 (1 false positive). All true perforations were correctly recognized.ConclusionsEn face imaging with RT3DTEE can be used to confirm aortic valve perforation and its spatial location. However, RT3D should be used as an extension to comprehensive 2DTEE and color flow imaging.

Background Myocardial strain imaging is a sensitive echocardiographic technique for identifying ventricular dysfunction. The aim of this study was to describe a reference range for right ventricular ( RV ) strain in subjects without cardiopulmonary disease and to report these values from a systematic review and meta‐analysis of the current literature. Methods Prospective online measurement of RV free wall longitudinal systolic strain using speckle tracking echocardiography ( STE ) was performed in 116 subjects with normal echocardiograms and without cardiopulmonary disease or risk factors. A systematic search of studies in EMBASE and Medline reporting RV strain values was performed through February 2014. Results The mean age was 48 ± 16 years and 58% were female. Mean RV strain was −26 ± 4%. Ten studies involving a total of 486 patients met our inclusion criteria. The mean age range was 43–57 years and 59% were female. All prior studies were performed with offline strain analysis, and 9 used a GE Healthcare strain analysis software system. The weighted estimate of RV free wall strain measured using tissue Doppler imaging (4 studies) was −27 ± 1% (95% confidence interval [ CI ] −30% to −25%) and with STE (8 studies, including the current study data) −27 ± 2% (95% CI −29% to −24%), respectively. Conclusions A reference range for RV strain in subjects without cardiopulmonary disease is presented. These data may help facilitate the routine clinical measurement of RV strain in patients referred for right heart echocardiography assessment.

ABSTRACTObjectives:In adults, vitamin D deficiency is common in patients with nonalcoholic fatty liver disease (NAFLD) and has been associated with the severity of histology. There are known differences between adult and pediatric NAFLD, with little data regarding the relation between vitamin D and pediatric NAFLD. The aim of the present study was to examine the relation between vitamin D levels and NAFLD in children.Methods:Clinical and histological data were used from children ages 2 to 18 years with biopsy‐proven NAFLD enrolled in the Nonalcoholic Steatohepatitis Clinical Research Network studies. 25(OH) vitamin D levels were measured from serum. Data examined included demographics, anthropometrics, laboratory markers, and liver histology. Data were analyzed using 3 categories of vitamin D level: deficient (≤20 ng/mL), insufficient (21–29 ng/mL), and sufficient (≥30 ng/mL).Results:A total of 102 children were studied. There was a high prevalence (80/102, 78%) of vitamin D deficiency or insufficiency; however, there were no significant associations between vitamin D level and the histological characteristics or severity of NAFLD. Significantly higher levels of triglycerides were found in those with vitamin D deficiency (P = 0.004), but there was no association with other features of the metabolic syndrome.Conclusions:There is a high prevalence of vitamin D deficiency and insufficiency in children with biopsy‐proven NAFLD; however, no association was found between vitamin D deficiency and the severity of disease on biopsies. This differs from adult NAFLD studies in which vitamin D deficiency correlates with histological severity, suggesting differences in the risk factors for or consequences of pediatric NAFLD.

Objective: To compare the safety and effectiveness of video-assisted thoracic surgery (VATS) versus conventional median sternotomy (open) in the repair of secundum atrial septal defect (ASD) or patent foramen ovale (PFO). Design: Among 415 consecutive patients undergoing open or VATS ASD/PFO closure between 1993 and October 2012, 153 patients were compared using 2:1 frequency matching (n = 102 open vs 51 VATS). Matching variables include age, gender, body surface area, past medical history of neurologic events, and need of patch closure. Median age was 43 years (3-71 years), and 67% were female. Results: There were no early deaths in either group. There were no conversions to open sternotomy. Although mean cross-clamp time (14.5 ± 7.6 vs 26.3 ± 13.2 minutes, P < .001) and bypass time (31.7 ± 13.8 vs 60.9 ± 20.9 minutes, P < .001) were longer in the VATS group, patients who underwent VATS had shorter postoperative ventilation time (7.5 ± 6.4 vs 4.4 ± 2.8 hours, P = .03) with 62.7% extubated in the operating room, along with shorter intensive care unit stay (26.7 ± 10.8 vs 19.1 ± 9.9 hours, P < .001) and hospital stay (5.2 ± 1.9 vs 3.5 ± 0.9 days, P < .001). At early follow-up (mean 1.5 years, maximum 4.2 years), there was no difference in need for reintervention. Of the 27 patients who underwent VATS ASD/PFO closure for a neurologic event, none had a recurrence. Conclusion: The use of VATS provides a safe, equally effective alternative to conventional sternotomy for ASD/PFO closure, using a less invasive approach.

AbstractPrognostic significance of histological anaplasia and BRAF V600E mutation were retrospectively evaluated in 74 patients with pleomorphic xanthoastrocytoma (PXA). Median age at diagnosis was 21.5 years (31 pediatric, 43 adult) and median follow‐up 7.6 years. Anaplasia (PXA‐AF), defined as mitotic index ≥ 5/10HPF and/or presence of necrosis, was present in 33 cases. BRAF V600E mutation was detected in 39 (of 60) cases by immunohistochemical and/or molecular analysis, all negative for IDH1 (R132H). Mitotic index ≥ 5/10HPF and necrosis were associated with decreased overall survival (OS; P = 0.0005 and P = 0.0002, respectively). In all cases except two, necrosis was associated with mitotic index ≥ 5/10HPF. Patients with BRAF V600E mutant tumors had significantly longer OS compared with those without BRAF V600E mutation (P = 0.02). PXA‐AF patients, regardless of age, had significantly shorter OS compared with those without (P = 0.0003). Recurrence‐free survival was significantly shorter for adult PXA‐AF patients (P = 0.047) only. Patients who either recurred or died ≤3 years from diagnosis were more likely to have had either PXA‐AF at first diagnosis (P = 0.008) or undergone a non‐gross total resection procedure (P = 0.004) as compared with patients who did not. This study provides further evidence that PXA‐AF behaves more aggressively than PXA and may qualify for WHO grade III “anaplastic” designation.

Abstract Phosphaturic mesenchymal tumours ( PMTs ) are uncommon soft tissue and bone tumours that typically cause hypophosphataemia and tumour‐induced osteomalacia ( TIO ) through secretion of phosphatonins including fibroblast growth factor 23 ( FGF23 ). PMT has recently been accepted by the World Health Organization as a formal tumour entity. The genetic basis and oncogenic pathways underlying its tumourigenesis remain obscure. In this study, we identified a novel FN1–FGFR1 fusion gene in three out of four PMTs by next‐generation RNA sequencing. The fusion transcripts and proteins were subsequently confirmed with RT‐PCR and western blotting. Fluorescence in situ hybridization analysis showed six cases with FN1–FGFR1 fusion out of an additional 11 PMTs . Overall, nine out of 15 PMTs (60%) harboured this fusion. The FN1 gene possibly provides its constitutively active promoter and the encoded protein's oligomerization domains to overexpress and facilitate the activation of the FGFR1 kinase domain. Interestingly, unlike the prototypical leukaemia‐inducing FGFR1 fusion genes, which are ligand‐independent, the FN1–FGFR1 chimeric protein was predicted to preserve its ligand‐binding domains, suggesting an advantage of the presence of its ligands (such as FGF23 secreted at high levels by the tumour) in the activation of the chimeric receptor tyrosine kinase, thus effecting an autocrine or a paracrine mechanism of tumourigenesis. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Identifying patients who will benefit from a palliative care approach is the first critical step in integrating palliative with curative therapy. Criteria are established that identify hospitalized medical patients who are near end of life, yet there are no criteria with respect to hospitalized patients with psychiatric disorders. The records of 276 consecutive patients admitted to a dedicated inpatient psychiatric unit were reviewed to identify prognostic criteria predictive of mortality. Mortality predictors were 2 or more admissions in the past year ( P = .0114) and older age ( P = .0006). Twenty-two percent of patients met National Hospice and Palliative Care Organization noncancer criteria for dementia. Palliative care intervention should be considered when treating inpatients with psychiatric disorders, especially older patients who have a previous hospitalization or history of dementia.

Because of the complexity of cervical cancer prevention guidelines, clinicians often fail to follow best-practice recommendations. Moreover, existing clinical decision support (CDS) systems generally recommend a cervical cytology every three years for all female patients, which is inappropriate for patients with abnormal findings that require surveillance at shorter intervals. To address this problem, we developed a decision tree-based CDS system that integrates national guidelines to provide comprehensive guidance to clinicians. Validation was performed in several iterations by comparing recommendations generated by the system with those of clinicians for 333 patients. The CDS system extracted relevant patient information from the electronic health record and applied the guideline model with an overall accuracy of 87%. Providers without CDS assistance needed an average of 1 minute 39 seconds to decide on recommendations for management of abnormal findings. Overall, our work demonstrates the feasibility and potential utility of automated recommendation system for cervical cancer screening and surveillance.