Research Spotlight

Zoghbi, W. A., F. M. Asch, C. Bruce, L. D. Gillam, P. A. Grayburn, R. T. Hahn, I. Inglessis, A. M. Islam, S. Lerakis, S. H. Little, R. J. Siegel, N. Skubas, T. C. Slesnick, W. J. Stewart, P. Thavendiranathan, N. J. Weissman, S. Yasukochi and K. G. Zimmerman (2019). “Guidelines for the Evaluation of Valvular Regurgitation After Percutaneous Valve Repair or Replacement: A Report from the American Society of Echocardiography Developed in Collaboration with the Society for Cardiovascular Angiography and Interventions, Japanese Society of Echocardiography, and Society for Cardiovascular Magnetic Resonance.” J Am Soc Echocardiogr 32(4): 431-475.

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Valvular disease remains a major cause of cardiovascular morbidity and mortality worldwide. Over the past decade, catheter-based interventions in valvular disease have evolved from balloon dilation of native stenotic valves to repair of paravalvular regurgitation (PVR) with vascular plugs and more recently to valve replacement and repair. Currently-approved interventions include transcatheter aortic valve replacement (TAVR), pulmonic valve replacement, and mitral valve repair, targeted to specific populations. Rapid technological advancements in device design are likely to improve acute and long-term results and expand current indications. Hemodynamics of percutaneous valves have been very favorable. However, a challenging area has been the new or residual valve regurgitation that may occur either after transcatheter valve implantation or repair of a native or prosthetic valve. This condition presents a diagnostic and therapeutic challenge to the interventional and imaging cardiology team in the catheterization laboratory and to the clinician and imager in the outpatient setting. The current document addresses the challenges of assessing residual regurgitation after percutaneous valve replacement or repair and provides a guide to the cardiac team on how best to approach this condition, based on the available data and a consensus of a panel of experts. This document supplements the previous American Society of Echocardiography (ASE) guideline on the assessment of surgically implanted prosthetic valves. 6 It does not address flow dynamics through the percutaneous prosthetic valves since, in general, the evaluation is similar to surgically implanted valves, 6 but focuses mostly on new or residual valvular regurgitation. In addition to the use of echocardiography and hemodynamic assessment in the acute setting, the document incorporates the role of cardiac magnetic resonance (CMR) imaging. This guideline is accompanied by a number of tutorials and illustrative case-studies on evaluation of valvular regurgitation after catheter-based interventions as well as native valve regurgitation, posted on the following website ( www.asecho.org/vrcases ), which will build gradually over time. (Excertp from text, p. 431; no abstract available.)

Wilson, D. K., A. M. Sweeney, L. H. Law, H. Kitzman-Ulrich and K. Resnicow (2019). “Web-Based Program Exposure and Retention in the Families Improving Together for Weight Loss Trial.” Ann Behav Med 53(4): 399-404.

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BACKGROUND: Interventions that incorporate behavioral skills training and parental involvement have been effective for promoting weight loss among middle and upper class youth; however, few studies have produced similar weight loss effects in underserved ethnic minority youth. PURPOSE: This study examined whether online program exposure (in both an online tailored intervention and an online health education comparison program) predicted greater retention among African American youth and their parents in the Families Improving Together (FIT) for Weight Loss trial. METHODS: Parent-adolescent dyads (N = 125) were randomized to either an online tailored intervention program (n = 63) or an online health education comparison program (n = 62). Paradata including login data were used to determine the number of sessions viewed (0-8) and the number of minutes spent online per session. Study retention, defined as collection of adolescent anthropometric measures at 6 months postintervention, was the outcome. RESULTS: Logistic regression analyses showed a significant effect for login rate on retention (OR = 1.21, 95% CI [1.04, 1.39]). Total number of sessions viewed, child age, child sex, parent age, and parent sex accounted for 11% of the variance in retention at 6 months post- intervention. Participants who were retained spent a significantly greater number of minutes during each session (M = 12.99, SD = 11.63) than participants who were not retained (M = 7.77, SD = 11.19), t(123) = 2.24, p = .027, d = 0.45. CONCLUSIONS: The use of paradata from online interventions is a novel and feasible approach for examining exposure in web-based interventions and program retention in underserved ethnic minority families. TRIAL REGISTRATION: ClinicalTrials.gov NCT01796067. Registered January 23, 2013.

Ward, M. A., C. M. Dunst, M. E. Glasgow, E. N. Teitelbaum, W. F. Abdelmoaty, K. M. Reavis, L. L. Swanstrm and S. R. DeMeester (2019). “Can Impedance-pH Testing on Medications Reliably Identify Patients with GERD as Defined by Pathologic Esophageal Acid Exposure off Medications?” J Gastrointest Surg Mar 11. [Epub ahead of print].

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INTRODUCTION: Impedance-pH testing (MII-pH) while patients are on acid suppression medications is frequently used to evaluate persistent reflux symptoms. The aim of this study was to determine whether MII-pH on medications can reliably identify patients with gastroesophageal reflux disease (GERD) as defined by pathologic esophageal acid exposure off medications, and to determine if there is a threshold of total reflux episodes on medications where pH testing off medications may be unnecessary. METHODS: A retrospective review identified all patients between 1/2010 and 4/2017 who underwent MII-pH testing on PPI medications and subsequently had pH testing off medications. GERD was defined on pH testing off medications by an abnormal DeMeester Score (DMS) and on MII-pH on medications by >/= 48 total reflux episodes. Patients with an abnormal DMS by MII-pH on medications were excluded. RESULTS: There were 71 patients, (22 males; 49 females), with a median age of 52 years. Based on >/= 48 total reflux episodes by MII-pH testing on medications, 42 patients (59%) had GERD. When tested off medications, an abnormal DMS was present in 44 patients (62%). Among those with GERD based on impedance testing on medications, 31% did not have GERD based on pH testing off medications. Further, in the 29 patients with 73 reflux events with MII-pH on medications, all 15 patients in our series had pathologic acid exposure on pH testing off medications. CONCLUSION: MII-pH testing on medications in patients with refractory GERD symptoms does not reliably correlate with a diagnosis of GERD as defined by pathologic esophageal acid exposure off medications. The commonly used abnormal MII-pH test value of >/= 48 total reflux episodes is not validated and should not be used. However, in our series, patients with > 73 total reflux episodes had a high likelihood of having pathologic acid exposure off medications. Overall, the preferred strategy to evaluate patients with persistent GERD symptoms on acid suppression therapy should be pH testing off medications.

Vemulapalli, S., J. D. Carroll, M. J. Mack, Z. Li, D. Dai, A. S. Kosinski, D. J. Kumbhani, C. E. Ruiz, V. H. Thourani, G. Hanzel, T. G. Gleason, H. C. Herrmann, R. G. Brindis and J. E. Bavaria (2019). “Procedural Volume and Outcomes for Transcatheter Aortic-Valve Replacement.” N Engl J Med Apr 3. [Epub ahead of print].

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BACKGROUND: During the introduction of transcatheter aortic-valve replacement (TAVR) in the United States, requirements regarding procedural volume were mandated by the Centers for Medicare and Medicaid Services as a condition of reimbursement. A better understanding of the relationship between hospital volume of TAVR procedures and patient outcomes could inform policy decisions. METHODS: We analyzed data from the Transcatheter Valve Therapy Registry regarding procedural volumes and outcomes from 2015 through 2017. The primary analyses examined the association between hospital procedural volume as a continuous variable and risk-adjusted mortality at 30 days after transfemoral TAVR. Secondary analysis included risk-adjusted mortality according to quartile of hospital procedural volume. A sensitivity analysis was performed after exclusion of the first 12 months of transfemoral TAVR procedures at each hospital. RESULTS: Of 113,662 TAVR procedures performed at 555 hospitals by 2960 operators, 96,256 (84.7%) involved a transfemoral approach. There was a significant inverse association between annualized volume of transfemoral TAVR procedures and mortality. Adjusted 30-day mortality was higher and more variable at hospitals in the lowest-volume quartile (3.19%; 95% confidence interval [CI], 2.78 to 3.67) than at hospitals in the highest-volume quartile (2.66%; 95% CI, 2.48 to 2.85) (odds ratio, 1.21; P = 0.02). The difference in adjusted mortality between a mean annualized volume of 27 procedures in the lowest-volume quartile and 143 procedures in the highest-volume quartile was a relative reduction of 19.45% (95% CI, 8.63 to 30.26). After the exclusion of the first 12 months of TAVR procedures at each hospital, 30-day mortality remained higher in the lowest-volume quartile than in the highest-volume quartile (3.10% vs. 2.61%; odds ratio, 1.19; 95% CI, 1.01 to 1.40). CONCLUSIONS: An inverse volume-mortality association was observed for transfemoral TAVR procedures from 2015 through 2017. Mortality at 30 days was higher and more variable at hospitals with a low procedural volume than at hospitals with a high procedural volume. (Funded by the American College of Cardiology Foundation National Cardiovascular Data Registry and the Society of Thoracic Surgeons.).

van der Knaap, M. S., A. Fogli, O. Boespflug-Tanguy, T. E. M. Abbink and R. Schiffmann (2019). “Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.” GeneReviews((R)) Available online 04 April 2019.

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CLINICAL CHARACTERISTICS: Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset >/=18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright. DIAGNOSIS/TESTING: The diagnosis of CACH/VWM can be established in an individual with typical clinical findings, characteristic abnormalities on cranial MRI, and identification of biallelic pathogenic variants in one of five genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5), which encode the five subunits of the eukaryotic translation initiation factor 2B (eIF2B). MANAGEMENT: Treatment of manifestations: Physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); antiepileptic drugs for seizures. Prevention of secondary complications: Prevention of infections and fever when possible through the use of vaccinations, low-dose maintenance antibiotics during winter, antibiotics for minor infections, and antipyretics for fever. For children, wearing a helmet when outside helps minimize the effects of head trauma. Surveillance: Close monitoring of neurologic status for several days during febrile infections and following head trauma or surgical procedures with anesthesia. Agents/circumstances to avoid: Contact sports, head trauma, infections, high body temperature and, if possible, major surgery. GENETIC COUNSELING: CACH/VWM is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variants in an affected relative have been identified.