Value of the duplex waveform at the common femoral artery for diagnosing obstructive aortoiliac disease

PurposeTo evaluate the accuracy, predictive value, and observer agreement of the duplex ultrasound waveform at the common femoral artery as a marker of significant aortoiliac disease in a large group of consecutive patients who underwent a diagnostic workup for peripheral arterial disease in a vascular unit.MethodsIn 191 consecutive patients (381 aortoiliac segments), we classified the duplex ultrasound waveform at the common femoral artery as triphasic, biphasic, sharp monophasic, or poor monophasic. The waveforms were then compared with the findings of magnetic resonance angiography of the aortoiliac segment and peripheral runoff vessels. We calculated the diagnostic accuracy of the duplex waveform for detecting >50% obstructive disease of the aortoiliac segment and determined the observer agreement for classifying the duplex waveforms done by two independent observers.ResultsMagnetic resonance angiography showed obstruction in 152 (39.9%) of 381 aortoiliac segments in 191 patients. The presence of a poor monophasic waveform, encountered in 91 (24.3%) of 375 segments, was a reliable sign of significant aortoiliac disease, with a positive predictive value of 92%. Other waveforms were nondiagnostic for aortoiliac obstructive disease. The sharp monophasic waveform reliably predicted occlusive disease of the superficial femoral artery that was seen in 17 of 23 instances. There was good observer agreement for classifying duplex waveforms (κw= 0.85; 95% confidence interval, 0.80 to 0.89).ConclusionThe poor monophasic duplex waveform at the common femoral artery is in itself an accurate marker of aortoiliac obstructive disease. Other waveforms are nondiagnostic for aortoiliac disease

Cost-effectiveness of endovascular revascularization compared to supervised hospital-based exercise training in patients with intermittent claudication: A randomized controlled trial

BackgroundThe optimal first-line treatment for intermittent claudication is currently unclear.ObjectiveTo compare the cost-effectiveness of endovascular revascularization vs supervised hospital-based exercise in patients with intermittent claudication during a 12-month follow-up period.DesignRandomized controlled trial with patient recruitment between September 2002-September 2006 and a 12-month follow-up per patient.SettingA large community hospital.ParticipantsPatients with symptoms of intermittent claudication due to an iliac or femoro-popliteal arterial lesion (293) who fulfilled the inclusion criteria (151) were recruited. Excluded were, for example, patients with lesions unsuitable for revascularization (iliac or femoropopliteal TASC-type D and some TASC type-B/C.InterventionParticipants were randomly assigned to endovascular revascularization (76 patients) or supervised hospital-based exercise (75 patients).MeasurementsMean improvement of health-related quality-of-life and functional capacity over a 12-month period, cumulative 12-month costs, and incremental costs per quality-adjusted life year (QALY) were assessed from the societal perspective.ResultsIn the endovascular revascularization group, 73% (55 patients) had iliac disease vs 27% (20 patients) femoral disease. Stents were used in 46/71 iliac lesions (34 patients) and in 20/40 femoral lesions (16 patients). In the supervised hospital-based exercise group, 68% (51 patients) had iliac disease vs 32% (24 patients) with femoral disease. There was a non-significant difference in the adjusted 6- and 12-month EuroQol, rating scale, and SF36-physical functioning values between the treatment groups. The gain in total mean QALYs accumulated during 12 months, adjusted for baseline values, was not statistically different between the groups (mean difference revascularization versus exercise 0.01; 99% CI −0.05, 0.07; P = .73). The total mean cumulative costs per patient was significantly higher in the revascularization group (mean difference €2318; 99% CI €2130, € 2506; P < .001) and the incremental cost per QALY was 231 800 €/QALY adjusted for the baseline variables. One-way sensitivity analysis demonstrated improved effectiveness after revascularization (mean difference 0.03; CI 0.02, 0.05; P < .001), making the incremental costs 75 208 €/QALY.ConclusionIn conclusion, there was no significant difference in effectiveness between endovascular revascularization compared to supervised hospital-based exercise during 12-months follow-up, any gains with endovascular revascularization found were non-significant, and endovascular revascularization costs more than the generally accepted threshold willingness-to-pay value, which favors exercise

Direct and indirect methods for the quantification of leg volume: Comparison between water displacement volumetry, the disk model method and the frustum sign model method, using the correlation coefficient and the limits of agreement

Volume changes can be measured either directly by water-displacement volumetry or by various indirect methods in which calculation of the volume is based on circumference measurements. The aim of the present study was to determine the most appropriate indirect method for lower leg volume calculation using water displacement volumetry as a ‘golden standard’. For 20 male volunteers, age range: 20–35 years, the volume of both lower legs was determined directly by water-displacement volumetry, and indirectly by the frustum sign model method and the disc model method. Calculation of the correlation coefficient and the limits of agreement showed that water-displacement volumetry and the disc model method are interchangeable (r = + 0.99, mean ± 2s = − 45 ± 78 ml), whereas this does not hold for the frustum sign model (r = + 0.93, mean ± 2s = 521 ± 238 ml). In the clinical situation volume measurement can be valuable for monitoring of the severity of oedema or haematoma occurrence after surgery or severe trauma. This non-invasive diagnostic aid may be a valuable adjuvant means of diagnosis for several volume dependent disorders of the extremities

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease

Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem cell (iPSC) lines from 3 individuals with LND, along with 6 control lines from 3 normal individuals. All 12 lines had the characteristics of pluripotent stem cells, as assessed by immunostaining for pluripotency markers, expression of pluripotency genes, and differentiation into the 3 primary germ cell layers. Gene expression profiling with RNAseq demonstrated significant heterogeneity among the lines. Despite this heterogeneity, several anticipated abnormalities were readily detectable across all LND lines, including reduced HPRT1 mRNA. Several unexpected abnormalities were also consistently detectable across the LND lines, including decreases in FAR2P1 and increases in RNF39. Shotgun proteomics also demonstrated several expected abnormalities in the LND lines, such as absence of HGprt protein. The proteomics study also revealed several unexpected abnormalities across the LND lines, including increases in GNAO1 decreases in NSE4A. There was a good but partial correlation between abnormalities revealed by the RNAseq and proteomics methods. Finally, functional studies demonstrated LND lines had no HGprt enzyme activity and resistance to the toxic pro-drug 6-thioguanine. Intracellular purines in the LND lines were normal, but they did not recycle hypoxanthine. These cells provide a novel resource to reveal insights into the relevance of heterogeneity among iPSC lines and applications for modeling LND

Successful adult domino living donor liver transplantation in methylmalonic acidemia:case report

Background: Liver transplantation (LT) is a therapeutic option in multiple inherited metabolic diseases (IMDs), including methylmalonic acidemia (MMA), as LT reduces the risk of acute metabolic decompensations and long-term complications associated with these diseases. In certain IMDs, such as maple syrup urine disease (MSUD), domino liver transplant (DLT) is an accepted and safe method which expands the donor pool. However, only one adult case of DLT using an MMA donor liver has been reported; outcome and safety are still unknown and questioned. Case Description: In this case report, we describe our experience with DLT using MMA livers. Two adult MMA patients underwent living donor liver transplant (LDLT); their MMA livers were consecutively transplanted into two patients on the liver transplant waiting list who had limited chance of receiving a liver transplant in the short term due to their low model for end-stage liver disease (MELD) scores. No severe peri- or postoperative complications occurred, however the recipients of the MMA livers biochemically now have mild MMA. Conclusions: DLT using MMA grafts is a feasible strategy to treat end-stage liver disease and expand the donor organ pool. However, the recipient of the MMA domino liver may develop mild MMA which could affect quality of life, and long-term safety remains unclear. Further long-term of outcomes for domino recipients of MMA livers, focusing on quality of life and any metabolic complications of transplantation are needed to better define the risks and benefits

Successful adult domino living donor liver transplantation in methylmalonic acidemia:case report

Background: Liver transplantation (LT) is a therapeutic option in multiple inherited metabolic diseases (IMDs), including methylmalonic acidemia (MMA), as LT reduces the risk of acute metabolic decompensations and long-term complications associated with these diseases. In certain IMDs, such as maple syrup urine disease (MSUD), domino liver transplant (DLT) is an accepted and safe method which expands the donor pool. However, only one adult case of DLT using an MMA donor liver has been reported; outcome and safety are still unknown and questioned. Case Description: In this case report, we describe our experience with DLT using MMA livers. Two adult MMA patients underwent living donor liver transplant (LDLT); their MMA livers were consecutively transplanted into two patients on the liver transplant waiting list who had limited chance of receiving a liver transplant in the short term due to their low model for end-stage liver disease (MELD) scores. No severe peri- or postoperative complications occurred, however the recipients of the MMA livers biochemically now have mild MMA. Conclusions: DLT using MMA grafts is a feasible strategy to treat end-stage liver disease and expand the donor organ pool. However, the recipient of the MMA domino liver may develop mild MMA which could affect quality of life, and long-term safety remains unclear. Further long-term of outcomes for domino recipients of MMA livers, focusing on quality of life and any metabolic complications of transplantation are needed to better define the risks and benefits

Development and clinical evaluation of a 3-step modified manipulation protocol for MRI-guided high-intensity focused ultrasound of uterine fibroids

__Objectives:__ The clinical applicability of magnetic resonance image−guided high-intensity focused ultrasound (MR-HIFU) treatment of uterine fibroids is often limited due to inaccessible fibroids or bowel interference. The aim of this study was to implement a newly developed 3-step modified manipulation protocol and to evaluate its influence on the number of eligible women and treatment fai

A systematic review of correlates of sedentary behaviour in adults aged 18–65 years: a socio-ecological approach

Background: Recent research shows that sedentary behaviour is associated with adverse cardio-metabolic consequences even among those considered sufficiently physically active. In order to successfully develop interventions to address this unhealthy behaviour, factors that influence sedentariness need to be identified and fully understood. The aim of this review is to identify individual, social, environmental, and policy-related determinants or correlates of sedentary behaviours among adults aged 18-65 years. Methods: PubMed, Embase, CINAHL, PsycINFO and Web of Science were searched for articles published between January 2000 and September 2015. The search strategy was based on four key elements and their synonyms: (a) sedentary behaviour (b) correlates (c) types of sedentary behaviours (d) types of correlates. Articles were included if information relating to sedentary behaviour in adults (18-65 years) was reported. Studies on samples selected by disease were excluded. The full protocol is available from PROSPERO (PROSPERO 2014:CRD42014009823). Results: 74 original studies were identified out of 4041: 71 observational, two qualitative and one experimental study. Sedentary behaviour was primarily measured as self-reported screen leisure time and total sitting time. In 15 studies, objectively measured total sedentary time was reported: accelerometry (n = 14) and heart rate (n = 1). Individual level factors such as age, physical activity levels, body mass index, socio-economic status and mood were all significantly correlated with sedentariness. A trend towards increased amounts of leisure screen time was identified in those married or cohabiting while having children resulted in less total sitting time. Several environmental correlates were identified including proximity of green space, neighbourhood walkability and safety and weather. Conclusions: Results provide further evidence relating to several already recognised individual level factors and preliminary evidence relating to social and environmental factors that should be further investigated. Most studies relied upon cross-sectional design limiting causal inference and the heterogeneity of the sedentary measures prevented direct comparison of findings. Future research necessitates longitudinal study designs, exploration of policy-related factors, further exploration of environmental factors, analysis of inter-relationships between identified factors and better classification of sedentary behaviour domains