Baylor Research Institute

Ameen, R., S. A. Shemmari and M. Askar (2017). “Next-generation sequencing characterization of HLA in multi-generation families of Kuwaiti descent.” Hum Immunol.

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The frequency of HLA genes in one population may not accurately represent frequencies in other populations. In this study, we characterized extended human leukocyte antigen (HLA) haplotypes in several families of Kuwaiti descent by high-resolution typing using next-generation technology. A total 81 members (including patients and related donors) from 21 families were enrolled. No haplotypes were shared among multiple families. Of 77 haplotypes identified, 23 were not listed in the HaploStats database. Two haplotypes were most common in African Americans, six in Asian Pacific Islanders, three in Caucasians, three in Hispanics, and three in Native Americans. The remaining identified haplotypes were not among the most common 200 HLA haplotypes in any of the five major populations. This cohort had 202 (19%) unique alleles, including 20 rare alleles, 16 very rare alleles, and 2 novel ones. Furthermore, no frequency data were available for 30% (23/77) of the observed haplotypes, and 6% (3/49) of B approximately C blocks identified were not available in the HaploStats database. Kuwaiti individuals carry unique HLA haplotypes that are not shared by the majority of individuals historically reported to the US National Marrow Donor Program registry.

Sorajja, P., S. Vemulapalli, T. Feldman, M. Mack, D. R. Holmes, Jr., A. Stebbins, S. Kar, V. Thourani and G. Ailawadi (2017). “Outcomes with transcatheter mitral valve repair in the united states: An sts/acc tvt registry report.” J Am Coll Cardiol 70(19): 2315-2327.

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BACKGROUND: Post-market surveillance is needed to evaluate the real-world clinical effectiveness and safety of U.S. Food and Drug Administration-approved devices. OBJECTIVES: The authors examined the commercial experience with transcatheter mitral valve repair for the treatment of mitral regurgitation. METHODS: Data from the Society of Thoracic Surgery/American College of Cardiology Transcatheter Valve Therapy Registry on patients commercially treated with transcatheter mitral valve repair were analyzed. The study population consisted of 2,952 patients treated at 145 hospitals between November 2013 and September 2015. In 1,867 patients, data were linked to patient-specific Centers for Medicare and Medicaid Services administrative claims for analyses. RESULTS: The median age was 82 years (55.8% men), with a median Society of Thoracic Surgery predicted risk of mortality of 6.1% (interquartile range: 3.7% to 9.9%) and 9.2% (interquartile range: 6.0% to 14.1%) for mitral repair and replacement, respectively. Overall, in-hospital mortality was 2.7%. Acute procedure success occurred in 91.8%. Among the patients with Centers for Medicare and Medicaid Services linkage data, the mortality at 30 days and at 1 year was 5.2% and 25.8%, respectively, and repeat hospitalization for heart failure at 1 year occurred in 20.2%. Variables associated with mortality or rehospitalization for heart failure after multivariate adjustment were increasing age, lower baseline left ventricular ejection fraction, worse post-procedural mitral regurgitation, moderate or severe lung disease, dialysis, and severe tricuspid regurgitation. CONCLUSIONS: Our findings demonstrate that commercial transcatheter mitral valve repair is being performed in the United States with acute effectiveness and safety. Our findings may help determine which patients have favorable long-term outcomes with this therapy.

Muriello, M. J., S. Viall, T. Bottiglieri, K. Cusmano-Ozog and C. R. Ferreira (2017). “Confirmation that mat1a p.Ala259val mutation causes autosomal dominant hypermethioninemia.” Mol Genet Metab Rep 13: 9-12.

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Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p.Ala259Val substitution and provide evidence of autosomal dominant inheritance by showing both maternal inheritance of the mutation and concomitant hypermethioninemia. The p.Ala259Val mutation falls in the dimer interface, and thus likely leads to dominant inheritance by a similar mechanism to that described in the previously reported dominant negative mutation, that is, by means of interference with subunits encoded by the wild-type allele.

Powers, M. B., R. A. de Kleine and J. A. J. Smits (2017). “Core mechanisms of cognitive behavioral therapy for anxiety and depression: A review.” Psychiatr Clin North Am 40(4): 611-623.

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This article reviews the extant literature on mediators of change in cognitive behavioral therapy (CBT) for anxiety and depression. The authors briefly discuss the efficacy of CBT for anxiety and depression and methods of mediation analysis and detection. Then the authors discuss fear extinction in anxiety treatment and cognitive change in depression treatment.

Roden-Foreman, K., R. Robinson, M. Bennett, K. Roaten, L. Petrey, M. B. Powers and A. M. Warren (2017). “Posttraumatic growth in a heterogeneous sample of traumatically injured patients 1 year postinjury.” J Clin Psychol: 2017 Nov [Epub ahead of print].

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OBJECTIVE: Posttraumatic growth (PTG) describes positive change resulting from challenging life events. The current study examined factors associated with PTG in traumatically injured patients 1 year postinjury. METHOD: Participants (N = 221) in this prospective cohort study included adults admitted to a Level I trauma center. Over half the participants (60%) were male, with a mean age of 47. Participants completed baseline measures during hospitalization. PTG was assessed at 12-month follow-up. RESULTS: Greater PTG was associated with minority race/ethnicity, lower income, automotive collision, and premorbid psychological disorder other than depression or posttraumatic stress (PTS). These variables are also known to predict PTS in trauma patients. Analysis confirmed that greater PTS at follow-up was associated with more growth. CONCLUSION: Participants with the most growth also experienced the most distress. This finding demonstrates the importance of implementing psychological screening and intervention for trauma patients in the acute care setting to reduce PTS and facilitate growth.