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Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

To access publisher's full text version of this article click on the hyperlink at the bottom of the pageAdenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifestations. Assessment of DHA crystalluria by urine microscopy is used for therapeutic monitoring, but lacks sensitivity. We report a high-throughput assay based on ultra-performance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) for quantification of urinary DHA. The UPLC-MS/MS assay was optimized by a chemometric approach for absolute quantification of DHA, utilizing isotopically labeled DHA as an internal standard. Experimental screening was conducted with D-optimal design and optimization of the DHA response was performed with central composite face design and related to the peak area of DHA using partial least square regression. Acceptable precision and accuracy of the DHA concentration were obtained over a calibration range of 100 to 5000ng/mL on three different days. The intra- and inter-day accuracy and precision coefficients of variation were well within ±15% for quality control samples analyzed in replicates of six at three concentration levels. Absolute quantification of DHA in urine samples from patients with APRT deficiency was achieved wihtin 6.5min. Measurement of DHA in 24h urine samples from three patients with APRT deficiency, diluted 1:15 (v/v) with 10mM ammonium hydroxide (NH4OH), yielded a concentration of 3021, 5860 and 10563ng/mL and 24h excretion of 816, 1327 and 1649mg, respectively. A rapid and robust UPLC-MS/MS assay for absolute quantification of DHA in urine was successfully developed. We believe this method will greatly facilitate diagnosis and management of patients with APRT deficiency.Rare Kidney Stone Consortium (U54DK083908), Rare Diseases Clinical Research Network (RDCRN), National Center for Advancing Translational Sciences (NCATS). National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK

Measuring and Building Community Disaster Resilience: Essential for Achieving Sendai

Disaster risk and resulting impacts are on the rise, threatening development gains. The Sendai Framework for Disaster Risk Reduction seeks to tackle the underlying drivers of risk, namely increasing exposure, and promote well-being. Achieving the goals of Sendai requires a shift in practice, away from the status quo in DRM and toward a holistic and system-thinking approach to disaster resilience that is centered on development. This chapter outlines one such approach, that of the Zurich Flood Resilience Alliance, to measure and build community flood resilience in 118 communities across nine countries. The links between the Flood Resilience Measurement for Communities (FRMC) measurement tool and linked resilience-building interventions and the goals of the Sendai Framework are outlined to demonstrate the potential of resilience for tackling the underlying drivers of increasing disaster risk

Sensorimotor function and dizziness in neck pain: Implications for assessment and management

SYNOPSIS: The term sensorimotor describes all the afferent, efferent, and central integration and processing components involved in maintaining stability in the postural control system through intrinsic motor-control properties. The scope of this paper is to highlight the sensorimotor deficits that can arise from altered cervical afferent input. From a clinical orthopaedic perspective, the peripheral mechanoreceptors are the most important in functional joint stability; but in the cervical region they are also important for postural stability, as well as head and eye movement control. Consequently, conventional musculoskeletal intervention approaches may be sufficient only for patients with neck pain and minimal sensorimotor proprioceptive disturbances. Clinical experience and research indicates that significant sensorimotor cervical proprioceptive disturbances might be an important factor in the maintenance, recurrence, or progression of various symptoms in some patients with neck pain. In these cases, more specific and novel treatment methods are needed which progressively address neck position and movement sense, as well as cervicogenic oculomotor disturbances, postural stability, and cervicogenic dizziness. In this commentary we review the most relevant theoretical and practical knowledge on this matter and implications for clinical assessment and management, and we propose future directions for research

Prosthetic closure of the esophageal hiatus in large hiatal hernia repair and laparoscopic antireflux surgery

Background: Laparoscopy has become the standard surgical approach to both surgery for gastroesophageal reflux disease and large/paraesophageal hiatal hernia repair with excellent long-term results and high patient satisfaction. However, several studies have shown that laparoscopic hiatal hernia repair is associated with high recurrence rates. Therefore, some authors recommend the use of prosthetic meshes for either laparoscopic large hiatal hernia repair or laparoscopic antireflux surgery. The aim of this article was to review available studies regarding the evolution, different techniques, results, and future perspectives concerning the use of prosthetic materials for closure of the esophageal hiatus. Methods: A search of electronic databases, including Medline and Embase, was performed to identify available articles regarding prosthetic hiatal closure for large hiatal or paraesophageal hernia repair and/or laparoscopic antireflux surgery. Techniques and results as well as recurrence rates and complications related to the use of prosthetics for hiatal closure were reviewed and compared. Additionally, recent experiences and recommendations of experienced experts in this field were collected. Results: The results of 42 studies were analyzed in this review. Some techniques of mesh hiatal closure were evaluated; however, most authors prefer posterior mesh cruroplasty. The type and shape of hiatal meshes vary from small angular meshes to A-shaped, V-shaped, or complete circular meshes. The most frequently utilized materials are polypropylene, polytetrafluoroethylene, or dual meshes. All studies show a low rate of postoperative hernia recurrence, with no mortality and low morbidity. In particular, comparative studies including two prospective randomized trials comparing simple sutured hiatal closure to prosthetic hiatal closure show a significantly lower rate of postoperative hiatal hernia recurrence and/or intrathoracic wrap migration in patients who underwent prosthetic hiatal closure. Conclusions: Laparoscopic large hiatal/paraesophageal hernia repair with prosthetic meshes as well as laparoscopic antireflux surgery with prosthetic hiatal closure are safe and effective procedures to prevent hiatal hernia recurrence and/or postoperative intrathoracic wrap migration, with low complication rates. The type of mesh, particularly the size and shape, is still controversial and is a matter for future research in this field