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https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#1
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29194579/targeted-gene-sequencing-and-whole-exome-sequencing-in-autopsied-fetuses-with-prenatally-diagnosed-kidney-anomalies
#2
M Rasmussen, L Sunde, M L Nielsen, M Ramsing, A Petersen, T D Hjortshøj, T E Olsen, A Tabor, J M Hertz, I Johnsen, L Sperling, O B Petersen, U B Jensen, F G Møller, M B Petersen, D L Lildballe
Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney-panel...
November 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29188862/editorial-collaborative-efforts-to-prevent-alzheimer-s-disease
#3
J Touchon, J Rosenbaum, P Aisen, S Andrieu, M C Carrillo, M Ceccaldi, J-F Dartiques, H Feldman, A Gabelle, M Isaac, L J Fitten, R A Sperling, B Vellas, P Tariot, M Weiner
No abstract text is available yet for this article.
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/29188853/computerized-cognitive-testing-for-use-in-clinical-trials-a-comparison-of-the-nih-toolbox-and-cogstate-c3-batteries
#4
R F Buckley, K P Sparks, K V Papp, M Dekhtyar, C Martin, S Burnham, R A Sperling, D M Rentz
BACKGROUND: As prevention trials for Alzheimer's disease move into asymptomatic populations, identifying older individuals who manifest the earliest cognitive signs of Alzheimer's disease is critical. Computerized cognitive testing has the potential to replace current gold standard paper and pencil measures and may be a more efficient means of assessing cognition. However, more empirical evidence about the comparability of novel computerized batteries to paper and pencil measures is required...
2017: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/29186281/eu-us-ctad-task-force-lessons-learned-from-recent-and-current-alzheimer-s-prevention-trials
#5
P Aisen, J Touchon, R Amariglio, S Andrieu, R Bateman, J Breitner, M Donohue, B Dunn, R Doody, N Fox, S Gauthier, M Grundman, S Hendrix, C Ho, M Isaac, R Raman, P Rosenberg, R Schindler, L Schneider, R Sperling, P Tariot, K Welsh-Bohmer, M Weiner, B Vellas
At a meeting of the EU/US/Clinical Trials in Alzheimer's Disease (CTAD) Task Force in December 2016, an international group of investigators from industry, academia, and regulatory agencies reviewed lessons learned from ongoing and planned prevention trials, which will help guide future clinical trials of AD treatments, particularly in the pre-clinical space. The Task Force discussed challenges that need to be addressed across all aspects of clinical trials, calling for innovation in recruitment and retention, infrastructure development, and the selection of outcome measures...
2017: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/29167419/widespread-theta-synchrony-and-high-frequency-desynchronization-underlies-enhanced-cognition
#6
E A Solomon, J E Kragel, M R Sperling, A Sharan, G Worrell, M Kucewicz, C S Inman, B Lega, K A Davis, J M Stein, B C Jobst, K A Zaghloul, S A Sheth, D S Rizzuto, M J Kahana
The idea that synchronous neural activity underlies cognition has driven an extensive body of research in human and animal neuroscience. Yet, insufficient data on intracranial electrical connectivity has precluded a direct test of this hypothesis in a whole-brain setting. Through the lens of memory encoding and retrieval processes, we construct whole-brain connectivity maps of fast gamma (30-100 Hz) and slow theta (3-8 Hz) spectral neural activity, based on data from 294 neurosurgical patients fitted with indwelling electrodes...
November 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/29124043/activities-of-daily-living-measured-by-the-harvard-automated-phone-task-track-with-cognitive-decline-over-time-in-non-demented-elderly
#7
Gad A Marshall, Sarah L Aghjayan, Maria Dekhtyar, Joseph J Locascio, Kamal Jethwani, Rebecca E Amariglio, Keith A Johnson, Reisa A Sperling, Dorene M Rentz
Background: Impairment in activities of daily living is a major burden to both patients and caregivers. Mild impairment in instrumental activities of daily living is often seen at the stage of mild cognitive impairment. The field of Alzheimer's disease is moving toward earlier diagnosis and intervention and more sensitive and ecologically valid assessments of instrumental or complex activities of daily living are needed. The Harvard Automated Phone Task, a novel performance-based activities of daily living instrument, has the potential to fill this gap...
2017: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/29119643/a-phase-i-study-of-lenalidomide-plus-chemotherapy-with-mitoxantrone-etoposide-and-cytarabine-for-the-reinduction-of-patients-with-acute-myeloid-leukemia
#8
Daniel J DeAngelo, Andrew M Brunner, Lillian Werner, David Avigan, Amir T Fathi, Adam S Sperling, Abigail Washington, Dina Stroopinsky, Jacalyn Rosenblatt, Malgorzata McMasters, Katarina Luptakova, Martha Wadleigh, David P Steensma, Gabriela S Hobbs, Eyal C Attar, Philip C Amrein, Benjamin L Ebert, Richard M Stone, Karen K Ballen
Patients with relapsed AML have a poor prognosis and limited responses to standard chemotherapy. Lenalidomide is an immunomodulatory drug that may modulate anti-tumor immunity. We performed a study to evaluate the safety and tolerability of lenalidomide with mitoxantrone, etoposide and cytarabine (MEC) in relapsed/refractory AML. Adult patients with relapsed/refractory AML were eligible for this phase I dose-escalation study. We enrolled 35 patients using a "3 + 3" design, with a 10 patient expansion cohort at the maximum tolerated dose (MTD)...
November 9, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29102347/relation-of-changes-in-body-fat-distribution-to-oxidative-stress
#9
Heval M Kelli, Frank E Corrigan, Robert E Heinl, Devinder S Dhindsa, Muhammad Hammadah, Ayman Samman-Tahhan, Pratik Sandesara, Wesley T O'Neal, Ibhar Al Mheid, Yi-An Ko, Viola Vaccarino, Thomas R Ziegler, Laurence S Sperling, Kenneth Brigham, Dean Jones, Greg S Martin, Arshed A Quyyumi
Android fat is a surrogate measure of visceral obesity in the truncal region. Both visceral adiposity and oxidative stress (OS) are linked to cardiometabolic risk factors and clinical cardiovascular disease. However, whether body fat distribution (android vs gynoid) is associated with OS remains unknown. We hypothesized that increased android fat will be associated with greater OS. Body fat distribution and markers of OS, including plasma levels of reduced (cysteine and glutathione) and oxidized (cystine and glutathione disulfide) aminothiols, were estimated in 711 volunteers (67% female, 23% black, mean age 48 ± 11) enrolled in the Emory Georgia Tech Predictive Health study...
September 20, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29098293/binocular-combination-of-luminance-profiles
#10
Jian Ding, Dennis M Levi
We develop and test a new two-dimensional model for binocular combination of the two eyes' luminance profiles. For first-order stimuli, the model assumes that one eye's luminance profile first goes through a luminance compressor, receives gain-control and gain-enhancement from the other eye, and then linearly combines the other eye's output profile. For second-order stimuli, rectification is added in the signal path of the model before the binocular combination site. Both the total contrast and luminance energies, weighted sums over both the space and spatial-frequency domains, were used in the interocular gain-control, while only the total contrast energy was used in the interocular gain-enhancement...
November 1, 2017: Journal of Vision
https://www.readbyqxmd.com/read/29071396/-artificial-urinary-sphincter-in-women-too-uncommon
#11
REVIEW
H Sperling, A Kaufmann, I Bonn, M Zaum
The artificial urinary sphincter (AUS) is a well-known standard in the therapy of male incontinence, but not in females. This review highlights options, results, and a critical appraisal of the use of AUS in women.
October 25, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/29055150/distinct-sources-of-gene-flow-produce-contrasting-population-genetic-dynamics-at-different-range-boundaries-of-a-choristoneura-budworm
#12
Gwylim S Blackburn, Bryan M T Brunet, Kevin Muirhead, Michel Cusson, Catherine Béliveau, Roger C Levesque, Lisa M Lumley, Felix A H Sperling
Populations are often exposed to multiple sources of gene flow, but accounts are lacking of the population genetic dynamics that result from these interactions or their effects on local evolution. Using a genomic clines framework applied to 1,195 single nucleotide polymorphisms, we documented genomewide, locus-specific patterns of introgression between Choristoneura occidentalis biennis spruce budworms and two ecologically divergent relatives, C. o. occidentalis and Choristoneura fumiferana, that it interacts with at alternate boundaries of its range...
October 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29051160/the-prognostic-significance-of-diabetes-and-microvascular-complications-in-patients-with-heart-failure-with-preserved-ejection-fraction
#13
Pratik B Sandesara, Wesley T O'Neal, Heval M Kelli, Ayman Samman-Tahhan, Muhammad Hammadah, Arshed A Quyyumi, Laurence S Sperling
OBJECTIVE: This study examined the prognostic significance of diabetes and microvascular complications in patients with heart failure with preserved ejection fraction (HFpEF). RESEARCH DESIGN AND METHODS: This analysis included 3,385 patients (mean age 69 ± 9.6 years; 49% male; 89% white) with HFpEF from the Treatment of Preserved Cardiac Function Heart Failure With an Aldosterone Antagonist Trial (TOPCAT). Diabetes and microvascular complications were ascertained by self-reported history and medical record review...
October 19, 2017: Diabetes Care
https://www.readbyqxmd.com/read/29017219/-consensus-based-guidelines-for-diagnosis-prevention-and-treatment-of-tuberculosis-in-children-and-adolescents-a-guideline-on-behalf-of-the-german-society-for-pediatric-infectious-diseases-dgpi
#14
C Feiterna-Sperling, F Brinkmann, C Adamczick, F Ahrens, M Barker, C Berger, L D Berthold, M Bogyi, U von Both, T Frischer, W Haas, P Hartmann, D Hillemann, F W Hirsch, K Kranzer, F Kunitz, E Maritz, A Pizzulli, N Ritz, R Schlags, T Spindler, S Thee, K Weizsäcker
Recently, epidemiological data shows an increase of childhood tuberculosis in Germany. In addition to this, drug resistant tuberculosis becomes more frequent. Therefore, diagnosis, prevention and therapy in childhood and adolescence remain a challenge. Adult guidelines do not work for children, as there are age specific differences in manifestation, risk of progression and diagnostic as well as therapeutic pathways.The German Society for Pediatric Infectious Diseases (DGPI) has initiated a consensus-based (S2k) process and completed a paediatric guideline in order to improve and standardize care for children and adolescents with tuberculosis exposure, infection or disease...
October 2017: Pneumologie
https://www.readbyqxmd.com/read/28980702/detection-of-generalized-tonic-clonic-seizures-using-surface-electromyographic-monitoring
#15
MULTICENTER STUDY
Jonathan J Halford, Michael R Sperling, Dileep R Nair, Dennis J Dlugos, William O Tatum, Jay Harvey, Jacqueline A French, John R Pollard, Edward Faught, Katherine H Noe, Thomas R Henry, Gina M Jetter, Octavian V Lie, Lola C Morgan, Michael R Girouard, Damon P Cardenas, Luke E Whitmire, Jose E Cavazos
OBJECTIVE: A prospective multicenter phase III trial was undertaken to evaluate the performance and tolerability in the epilepsy monitoring unit (EMU) of an investigational wearable surface electromyographic (sEMG) monitoring system for the detection of generalized tonic-clonic seizures (GTCSs). METHODS: One hundred ninety-nine patients with a history of GTCSs who were admitted to the EMU in 11 level IV epilepsy centers for clinically indicated video-electroencephalographic monitoring also received sEMG monitoring with a wearable device that was worn on the arm over the biceps muscle...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/28974997/the-door-to-needle-time-metric-can-be-achieved-via-telestroke
#16
Ganesh Asaithambi, Amy L Castle, Michael A Sperl, Jayashree Ravichandran, Aditi Gupta, Bridget M Ho, Sandra K Hanson
The administration of intravenous (IV) alteplase to patients with stroke via telestroke (TS) can be safe and effective. It remains unclear how quickly IV alteplase occurs during TS evaluations. We sought to compare door to needle times (DNTs) between patients receiving IV alteplase who present directly to our comprehensive stroke center (CSC) and those presenting to community hospitals in our TS network. Consecutive patients with acute ischemic stroke (AIS) who presented to emergency departments and received IV alteplase between August 2014 and June 2015 were identified at our CSC and TS network...
October 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28973551/region-specific-association-of-subjective-cognitive-decline-with-tauopathy-independent-of-global-%C3%AE-amyloid-burden
#17
Rachel F Buckley, Bernard Hanseeuw, Aaron P Schultz, Patrizia Vannini, Sarah L Aghjayan, Michael J Properzi, Jonathan D Jackson, Elizabeth C Mormino, Dorene M Rentz, Reisa A Sperling, Keith A Johnson, Rebecca E Amariglio
Importance: The ability to explore associations between reports of subjective cognitive decline (SCD) and biomarkers of early Alzheimer disease (AD) pathophysiologic processes (accumulation of neocortical β-amyloid [Aβ] and tau) provides an important opportunity to understand the basis of SCD and AD risk. Objective: To examine associations between SCD and global Aβ and tau burdens in regions of interest in clinically healthy older adults. Design, Setting, and Participants: This imaging substudy of the Harvard Aging Brain Study included 133 clinically healthy older participants (Clinical Dementia Rating Scale global scores of 0) participating in the Harvard Aging Brain Study who underwent cross-sectional flortaucipir F 18 (previously known as AV 1451, T807) positron emission tomography (FTP-PET) imaging for tau and Pittsburgh compound B carbon 11-labeled PET (PiB-PET) imaging for Aβ...
October 2, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28954594/subjective-memory-change-mood-and-cerebrovascular-risk-factors-in-older-african-americans
#18
Scott A Sperling, Siny Tsang, Ishan C Williams, Moon Ho Park, Ira M Helenius, Carol A Manning
OBJECTIVE: Subjective memory change (SMC) in older individuals may represent a harbinger of cognitive decline. This study examined the factors associated with SMC in older African Americans (AA), who have greater risk of developing dementia. We predicted that symptoms of depression and anxiety, as well as the total number of cerebrovascular risk factors (tCVRFs), but not performances on objective memory measures, would be positively associated with SMC. METHODS: Ninety-six AA completed brief cognitive testing and answered questions about mood and memory at their primary care appointment...
January 1, 2017: Journal of Geriatric Psychiatry and Neurology
https://www.readbyqxmd.com/read/28942965/biallelic-c1qbp-mutations-cause-severe-neonatal-childhood-or-later-onset-cardiomyopathy-associated-with-combined-respiratory-chain-deficiencies
#19
René G Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A Jourdain, Kyle Thompson, Aaron R D'Souza, Robert Kopajtich, Charlotte L Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M Strom, Saskia B Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F Chinnery, Zofia M Chrzanowska-Lightowlers, Robert N Lightowlers, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A Mayr, Robert W Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28940506/molecular-and-clinical-spectra-of-fbxl4-deficiency
#20
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion...
September 22, 2017: Human Mutation
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