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Olga Azevedo, Miguel Gago, Gabriel Miltenberger-Miltenyi, Paulo Gaspar, Nuno Sousa, Damião Cunha
We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family...
February 3, 2017: Cardiology
Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpi, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl-Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Ludger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramirez, Frank Jessen, Michael T Heneka, Estrella Gómez-Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, Marc Bruyland, Christiana Willems, Eric Salmon, Pau Pastor, Sara Ortega-Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Mercè Boada, Agustín Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sanchez-Valle, Albert Llado, Isabel Santana, Maria Rosário Almeida, Giovanni B Frisoni, Walter Maetzler, Radoslav Matej, Matthew J Fraidakis, Gabor G Kovacs, Gian Maria Fabrizi, Silvia Testi
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring loss of RNA expression. Functional effect of in-frame amino acid deletions and missense mutations was further explored in vivo on protein level and in vitro by an NFκB-induced luciferase reporter assay and measuring phosphorylated TBK1...
March 2017: Human Mutation
Nicholas J Tobias, Tilman Ahrendt, Ursula Schell, Melissa Miltenberger, Hubert Hilbi, Helge B Bode
Several members of the genus Legionella cause Legionnaires' disease, a potentially debilitating form of pneumonia. Studies frequently focus on the abundant number of virulence factors present in this genus. However, what is often overlooked is the role of secondary metabolites from Legionella. Following whole genome sequencing, we assembled and annotated the Legionella parisiensis DSM 19216 genome. Together with 14 other members of the Legionella, we performed comparative genomics and analysed the secondary metabolite potential of each strain...
2016: PeerJ
Robert P Miltenberger
No abstract text is available yet for this article.
December 2016: Health Physics
Claire Spieler, Raymond Miltenberger
This study evaluated the effectiveness of awareness training for the reduction of three nervous habits that manifest during public speaking: filled pauses, tongue clicks, and inappropriate use of the word "like." Four university students delivered short speeches during baseline and assessment sessions. Awareness training resulted in meaningful reductions in target behaviors for all participants. Booster awareness training sessions were necessary for all participants to achieve further reductions in target behaviors...
October 21, 2016: Journal of Applied Behavior Analysis
Raj Nath Makroo, Aakanksha Bhatia, Mohit Chowdhry, N L Rosamma, Prashant Karna
The Miltenberger (Mi) classes represent a group of phenotypes for red cells that carry low frequency antigens associated with the MNSs blood group system. This pilot study was aimed at determining the Mia antigen positivity in the blood donor population in a tertiary care hospital in New Delhi, India. The study was performed between June to August 2014 on eligible blood donors willing to participate. Antigen typing was performed using monoclonal anti-Mia antiserum by tube technique. Only one of the 1000 blood donors (0...
May 2016: Indian Journal of Medical Research
Matthew Miltenberger, Anton Pecha, Robert Dowden, Tyler Keshel, Shawn Munford, Emily Sauers
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
Brandon Snyder, Jason Kelmer, Gavin Moir, Shala Davis, Matt Miltenberger, Shawn Munford
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
Michael L Rossetti, Matthew Miltenberger, Jordan Hartey, Shala Davis, Chad Witmer, Emily Sauers
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
Emily J Sauers, Elizabeth F Klinger, Chad A Witmer, Matthew R Miltenberger, Shala E Davis
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
Raquel Pinho, Leonor C Guedes, Lilach Soreq, Patrícia P Lobo, Tiago Mestre, Miguel Coelho, Mário M Rosa, Nilza Gonçalves, Pauline Wales, Tiago Mendes, Ellen Gerhardt, Christiane Fahlbusch, Vincenzo Bonifati, Michael Bonin, Gabriel Miltenberger-Miltényi, Fran Borovecki, Hermona Soreq, Joaquim J Ferreira, Tiago F Outeiro
The prognosis of neurodegenerative disorders is clinically challenging due to the inexistence of established biomarkers for predicting disease progression. Here, we performed an exploratory cross-sectional, case-control study aimed at determining whether gene expression differences in peripheral blood may be used as a signature of Parkinson's disease (PD) progression, thereby shedding light into potential molecular mechanisms underlying disease development. We compared transcriptional profiles in the blood from 34 PD patients who developed postural instability within ten years with those of 33 patients who did not develop postural instability within this time frame...
2016: PloS One
L Wei, Z G Shan, R L Flower, Z Wang, J Z Wen, G P Luo, Y L Ji
BACKGROUND AND OBJECTIVES: MNS hybrid glycophorins are identified by characteristic antigen profiles. One of these is the Mur antigen, which is expressed on red cell hybrid glycophorins of several phenotypes of the 'Miltenberger' series found predominantly in East Asian population. The aim of this study was to investigate the distribution of Mur-positive hybrid glycophorins and clarify the genetic basis in the donors from southern China. MATERIALS AND METHODS: Blood samples from 528 donors were collected for Mur antigen serological typing...
October 2016: Vox Sanguinis
Apirom Vongsakulyanon, Chinnawut Pipatpanukul, Pimpun Kitpoka, Mongkol Kunakorn, Toemsak Srikhirin
BACKGROUND: Miltenberger (Mi) series are the collective glycophorin hybrids in the MNS blood group system. Mi series are composed of several subtypes, for examples, GP.Mur, GP.Hop, and GP.Bun. The incompatibility of Mi series blood transfusion poses the risk of hemolysis. Due to the lack of standard antibodies for Mi series blood typing, colorimetric gold nanoparticle (AuNP) DNA probes were therefore explored for Mi series identification. METHODS: AuNPs were synthesized and conjugated to an RvB (test) probe and an RvA2 (control) probe...
November 2016: Journal of Clinical Laboratory Analysis
Carolyn Mancuso, Raymond G Miltenberger
This study evaluated the effectiveness of simplified habit reversal in reducing filled pauses that occur during public speaking. Filled pauses consist of "uh," "um," or "er"; clicking sounds; and misuse of the word "like." After baseline, participants received habit reversal training that consisted of awareness training and competing response training. During postintervention assessments, all 6 participants exhibited an immediate decrease in filled pauses.
March 2016: Journal of Applied Behavior Analysis
P A Rodrigues, J Demgen, E Miltenberger, L Aliaga, O Altinok, L Bellantoni, A Bercellie, M Betancourt, A Bodek, A Bravar, H Budd, T Cai, M F Carneiro, J Chvojka, J Devan, S A Dytman, G A Díaz, B Eberly, M Elkins, J Felix, L Fields, R Fine, A M Gago, R Galindo, H Gallagher, A Ghosh, T Golan, R Gran, D A Harris, A Higuera, K Hurtado, M Kiveni, J Kleykamp, M Kordosky, T Le, J R Leistico, A Lovlein, E Maher, S Manly, W A Mann, C M Marshall, D A Martinez Caicedo, K S McFarland, C L McGivern, A M McGowan, B Messerly, J Miller, A Mislivec, J G Morfín, J Mousseau, T Muhlbeier, D Naples, J K Nelson, A Norrick, Nuruzzaman, J Osta, V Paolone, C E Patrick, G N Perdue, M A Ramirez, R D Ransome, H Ray, L Ren, D Rimal, D Ruterbories, H Schellman, D W Schmitz, C J Solano Salinas, N Tagg, B G Tice, E Valencia, T Walton, J Wolcott, M Wospakrik, G Zavala, D Zhang
Two different nuclear-medium effects are isolated using a low three-momentum transfer subsample of neutrino-carbon scattering data from the MINERvA neutrino experiment. The observed hadronic energy in charged-current ν_{μ} interactions is combined with muon kinematics to permit separation of the quasielastic and Δ(1232) resonance processes. First, we observe a small cross section at very low energy transfer that matches the expected screening effect of long-range nucleon correlations. Second, additions to the event rate in the kinematic region between the quasielastic and Δ resonance processes are needed to describe the data...
February 19, 2016: Physical Review Letters
Bethany Harriage, Kwang-Sun Cho Blair, Raymond Miltenberger
This study evaluated an in situ pedestrian safety skills intervention for three individuals with autism , as implemented by their parents. Specifically, this study examined the utility of behavioral skills training (BST) in helping parents implement most-to-least prompting procedures in training their children to use pedestrian safety skills in community settings. A multiple baseline design across participants was used to assess parent implementation of in situ pedestrian safety skills training as well as the correct use of safety skills independently by the participating individuals with autism...
2016: Journal of Autism and Developmental Disorders
A Vongsakulyanon, P Kitpoka, M Kunakorn, T Srikhirin
OBJECTIVES: To develop reliable and convenient methods for Miltenberger (Mi(a) ) blood group typing. AIM: To apply real-time polymerase chain reaction (qPCR) melting curve analysis to Mi(a) blood group typing. BACKGROUND: The Mi(a) blood group is the collective set of glycophorin hybrids in the MNS blood group system. Mi(a+) blood is common among East Asians and is also found in the Thai population. Incompatible Mi(a) blood transfusions pose the risk of life-threatening haemolysis; therefore, Mi(a) blood group typing is necessary in ethnicities where the Mi(a) blood group is prevalent...
December 2015: Transfusion Medicine
Joel P Golden, Daniel K Burden, Kenan P Fears, Daniel E Barlow, Christopher R So, Justin Burns, Benjamin Miltenberg, Beatriz Orihuela, Daniel Rittshof, Christopher M Spillmann, Kathryn J Wahl, Leonard M Tender
Surface plasmon resonance imaging (SPRI) and voltammetry were used simultaneously to monitor Amphibalanus (=Balanus) amphitrite barnacles reattached and grown on gold-coated glass slides in artificial seawater. Upon reattachment, SPRI revealed rapid surface adsorption of material with a higher refractive index than seawater at the barnacle/gold interface. Over longer time periods, SPRI also revealed secretory activity around the perimeter of the barnacle along the seawater/gold interface extending many millimeters beyond the barnacle and varying in shape and region with time...
January 19, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
Heather Kelley, Raymond G Miltenberger
This study used video feedback to improve the horseback-riding skills of advanced beginning riders. We focused on 3 skill sets: those used in jumping over obstacles, dressage riding on the flat, and jumping position riding on the flat. Baseline consisted of standard lesson procedures. Intervention consisted of video feedback in which a recorded attempt at the target behavior was immediately shown to the rider and the instructor. The rider and instructor reviewed the video while the instructor delivered feedback...
March 2016: Journal of Applied Behavior Analysis
Tricia Jeffries, Kimberly Crosland, Raymond Miltenberger
We tested the effectiveness of a tablet application and differential reinforcement to increase eye contact in 3 children with autism. The application required the child to look at a picture of a person's face and identify the number displayed in the person's eyes. Eye contact was assessed immediately after training, 1 hr after training, and in a playroom. The tablet application was not effective; however, differential reinforcement was effective for all participants.
March 2016: Journal of Applied Behavior Analysis
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