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Mark j Mannis

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https://www.readbyqxmd.com/read/27164717/definition-and-diagnostic-criteria-of-sleep-related-hypermotor-epilepsy
#1
REVIEW
Paolo Tinuper, Francesca Bisulli, J H Cross, Dale Hesdorffer, Philippe Kahane, Lino Nobili, Federica Provini, Ingrid E Scheffer, Laura Tassi, Luca Vignatelli, Claudio Bassetti, Fabio Cirignotta, Christopher Derry, Antonio Gambardella, Renzo Guerrini, Peter Halasz, Laura Licchetta, Mark Mahowald, Raffaele Manni, Carla Marini, Barbara Mostacci, Ilaria Naldi, Liborio Parrino, Fabienne Picard, Maura Pugliatti, Philippe Ryvlin, Federico Vigevano, Marco Zucconi, Samuel Berkovic, Ruth Ottman
The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine, neurosurgery, pediatric neurology, epidemiology, genetics). Though uncommon, it is of considerable interest to practicing neurologists because of complexity in differential diagnosis from more common, benign sleep disorders such as parasomnias, or other disorders like psychogenic nonepileptic seizures. Moreover, misdiagnosis can have substantial adverse consequences on patients' lives...
May 10, 2016: Neurology
https://www.readbyqxmd.com/read/27148909/evaluation-of-a-portable-artificial-vision-device-among-patients-with-low-vision
#2
Elad Moisseiev, Mark J Mannis
IMPORTANCE: Low vision is irreversible in many patients and constitutes a disability. When no treatment to improve vision is available, technological developments aid these patients in their daily lives. OBJECTIVE: To evaluate the usefulness of a portable artificial vision device (OrCam) for patients with low vision. DESIGN, SETTING, AND PARTICIPANTS: A prospective pilot study was conducted between July 1 and September 30, 2015, in a US ophthalmology department among 12 patients with visual impairment and best-corrected visual acuity of 20/200 or worse in their better eye...
July 1, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/26916109/transmission-of-human-mtdna-heteroplasmy-in-the-genome-of-the-netherlands-families-support-for-a-variable-size-bottleneck
#3
Mingkun Li, Rebecca Rothwell, Martijn Vermaat, Manja Wachsmuth, Roland Schröder, Jeroen F J Laros, Mannis van Oven, Paul I W de Bakker, Jasper A Bovenberg, Cornelia M van Duijn, Gert-Jan B van Ommen, P Eline Slagboom, Morris A Swertz, Cisca Wijmenga, Manfred Kayser, Dorret I Boomsma, Sebastian Zöllner, Peter de Knijff, Mark Stoneking
Although previous studies have documented a bottleneck in the transmission of mtDNA genomes from mothers to offspring, several aspects remain unclear, including the size and nature of the bottleneck. Here, we analyze the dynamics of mtDNA heteroplasmy transmission in the Genomes of the Netherlands (GoNL) data, which consists of complete mtDNA genome sequences from 228 trios, eight dizygotic (DZ) twin quartets, and 10 monozygotic (MZ) twin quartets. Using a minor allele frequency (MAF) threshold of 2%, we identified 189 heteroplasmies in the trio mothers, of which 59% were transmitted to offspring, and 159 heteroplasmies in the trio offspring, of which 70% were inherited from the mothers...
April 2016: Genome Research
https://www.readbyqxmd.com/read/26845321/reply-to-letter-to-the-editor-ultrathin-grafts-for-dsaek-with-a-single-microkeratome-pass
#4
LETTER
Mazen Y Choulakian, Jennifer Y Li, Samuel Ramos, Mark J Mannis
No abstract text is available yet for this article.
April 2016: Cornea
https://www.readbyqxmd.com/read/26831084/enhanced-stability-of-tristetraprolin-mrna-protects-mice-against-immune-mediated-inflammatory-pathologies
#5
Sonika Patial, Alan D Curtis, Wi S Lai, Deborah J Stumpo, Georgette D Hill, Gordon P Flake, Mark D Mannie, Perry J Blackshear
Tristetraprolin (TTP) is an inducible, tandem zinc-finger mRNA binding protein that binds to adenylate-uridylate-rich elements (AREs) in the 3'-untranslated regions (3'UTRs) of specific mRNAs, such as that encoding TNF, and increases their rates of deadenylation and turnover. Stabilization of Tnf mRNA and other cytokine transcripts in TTP-deficient mice results in the development of a profound, chronic inflammatory syndrome characterized by polyarticular arthritis, dermatitis, myeloid hyperplasia, and autoimmunity...
February 16, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26555583/single-pass-microkeratome-system-for-eye-bank-dsaek-tissue-preparation-is-stromal-bed-thickness-predictable-and-reproducible
#6
Mazen Y Choulakian, Jennifer Y Li, Samuel Ramos, Mark J Mannis
PURPOSE: To evaluate the predictability and reproducibility of stromal bed thickness for single-pass donor Descemet stripping automated endothelial keratoplasty (DSAEK) tissue preparation, using the ML7 Microkeratome Donor Cornea System (Med-logics Inc, Athens, TX). METHODS: In this retrospective chart review of 256 consecutive corneal tissue preparations for DSAEK surgery, from June 2013 to August 2014, tissue thicknesses were divided into 3 groups, depending on surgeon preference: <91 μm (group A), 90 to 120 μm (group B), and 120 to 160 μm (group C)...
January 2016: Cornea
https://www.readbyqxmd.com/read/26539624/ocular-adverse-events-associated-with-antibody-drug-conjugates-in-human-clinical-trials
#7
REVIEW
Joshua Seth Eaton, Paul E Miller, Mark J Mannis, Christopher J Murphy
This article reviews ocular adverse events (AEs) reported in association with administration of antibody-drug conjugates (ADCs) in human clinical trials. References reporting ocular toxicity or AEs associated with ADCs were collected using online publication searches. Articles, abstracts, or citations were included if they cited ocular toxicities or vision-impairing AEs with a confirmed or suspected association with ADC administration. Twenty-two references were found citing ocular or vision-impairing AEs in association with ADC administration...
December 2015: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/26214530/use-of-scleral-lenses-and-miniscleral-lenses-after-penetrating-keratoplasty
#8
Melissa Barnett, Vivian Lien, Jennifer Y Li, Blythe Durbin-Johnson, Mark J Mannis
PURPOSE: To examine the clinical outcomes of scleral lenses for visual rehabilitation after penetrating keratoplasty (PK). METHODS: A retrospective review was conducted for 34 patients (48 eyes) who had a history of prior PK and were fit with scleral lenses between October 2009 and December 2013 at the UC Davis Eye Center. RESULTS: The most common initial indication for PK was keratoconus in 27 eyes (56%). Thirty-three eyes (69%) had previously been fit with other types of contact lenses, with small-diameter rigid gas-permeable lenses being the most common...
May 2016: Eye & Contact Lens
https://www.readbyqxmd.com/read/25984290/in-vivo-volumetric-depth-resolved-vasculature-imaging-of-human-limbus-and-sclera-with-1%C3%AE-m-swept-source-phase-variance-optical-coherence-angiography
#9
Raju Poddar, Robert J Zawadzki, Dennis E Cortés, Mark J Mannis, John S Werner
We present nnnnnin vivo volumetric depth-resolved vasculature images of the anterior segment of the human eye acquired with phase-variance based motion contrast using a high-speed (100 kHz, 10(5) A-scans/s) swept source optical coherence tomography system (SSOCT). High phase stability SSOCT imaging was achieved by using a computationally efficient phase stabilization approach. The human corneo-scleral junction and sclera were imaged with swept source phase-variance optical coherence angiography and compared with slit lamp images from the same eyes of normal subjects...
June 2015: Journal of Optics
https://www.readbyqxmd.com/read/25752331/in-vivo-ocular-imaging-of-the-cornea-of-the-normal-female-laboratory-beagle-using-confocal-microscopy
#10
Ann R Strom, Dennis E Cortés, Sara M Thomasy, Philip H Kass, Mark J Mannis, Christopher J Murphy
OBJECTIVE: To obtain normative data for the normal laboratory beagle cornea using high-resolution in vivo confocal microscopy (IVCM). ANIMALS STUDIED: Sixteen eyes of eight healthy young female intact beagles. PROCEDURES: The central cornea was imaged using IVCM. Mixed effects linear regression was used for statistical analysis. RESULTS: in vivo confocal microscopy allowed detailed visualization and quantification of epithelial cells (superficial epithelial cell diameter: 43...
January 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/25681441/lysosomal-degradation-of-cd44-mediates-ceramide-nanoliposome-induced-anoikis-and-diminished-extravasation-in-metastatic-carcinoma-cells
#11
Jeremy K Haakenson, Andrei V Khokhlatchev, Younhee J Choi, Samuel S Linton, Pu Zhang, Peter M Zaki, Changliang Fu, Timothy K Cooper, Andrea Manni, Junjia Zhu, Todd E Fox, Cheng Dong, Mark Kester
The ceramide nanoliposome (CNL) has shown promise in being able to treat a variety of primary tumors. However, its potential for treating metastatic cancer remains unknown. In this study, we demonstrate that CNL increases anoikis while preventing cancer cell extravasation under both static and physiological fluid flow conditions. Mechanistically, CNL limits metastases by decreasing CD44 protein levels in human breast and pancreatic cancer cells via lysosomal degradation of CD44, independent of palmitoylation or proteasome targeting...
March 27, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/25676065/in-vivo-evaluation-of-the-cornea-and-conjunctiva-of-the-normal-laboratory-beagle-using-time-and-fourier-domain-optical-coherence-tomography-and-ultrasound-pachymetry
#12
Ann R Strom, Dennis E Cortés, Carol A Rasmussen, Sara M Thomasy, Kim McIntyre, Shwu-Fei Lee, Philip H Kass, Mark J Mannis, Christopher J Murphy
OBJECTIVE: To obtain normative data for the canine cornea and conjunctiva using high-resolution time- and Fourier-domain optical coherence tomography (TD-OCT and FD-OCT) and ultrasound pachymetry (USP). ANIMALS: One hundred sixty-eight eyes of 133 healthy young intact laboratory beagles. PROCEDURES: The cornea and conjunctiva of 16 eyes of 8 healthy young intact female beagles were imaged using FD-OCT. Corneal thickness was measured with FD-OCT and USP, while corneal epithelial thickness and conjunctival epithelial thickness were measured with FD-OCT...
January 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/25542617/mitochondrial-disease-sequence-data-resource-mseqdr-a-global-grass-roots-consortium-to-facilitate-deposition-curation-annotation-and-integrated-analysis-of-genomic-data-for-the-mitochondrial-disease-clinical-and-research-communities
#13
REVIEW
Marni J Falk, Lishuang Shen, Michael Gonzalez, Jeremy Leipzig, Marie T Lott, Alphons P M Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip Yeske, Renkui Bai, Richard G Boles, Virginia Brilhante, David Ralph, Jeana T DaRe, Robert Shelton, Sharon F Terry, Zhe Zhang, William C Copeland, Mannis van Oven, Holger Prokisch, Douglas C Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Zuchner, Xiaowu Gai
Success rates for genomic analyses of highly heterogeneous disorders can be greatly improved if a large cohort of patient data is assembled to enhance collective capabilities for accurate sequence variant annotation, analysis, and interpretation. Indeed, molecular diagnostics requires the establishment of robust data resources to enable data sharing that informs accurate understanding of genes, variants, and phenotypes. The "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" is a grass-roots effort facilitated by the United Mitochondrial Disease Foundation to identify and prioritize specific genomic data analysis needs of the global mitochondrial disease clinical and research community...
March 2015: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/25378555/whole-genome-sequencing-to-understand-the-genetic-architecture-of-common-gene-expression-and-biomarker-phenotypes
#14
Andrew R Wood, Marcus A Tuke, Mike Nalls, Dena Hernandez, J Raphael Gibbs, Haoxiang Lin, Christopher S Xu, Qibin Li, Juan Shen, Goo Jun, Marcio Almeida, Toshiko Tanaka, John R B Perry, Kyle Gaulton, Manny Rivas, Richard Pearson, Joanne E Curran, Matthew P Johnson, Harald H H Göring, Ravindranath Duggirala, John Blangero, Mark I Mccarthy, Stefania Bandinelli, Anna Murray, Michael N Weedon, Andrew Singleton, David Melzer, Luigi Ferrucci, Timothy M Frayling
Initial results from sequencing studies suggest that there are relatively few low-frequency (<5%) variants associated with large effects on common phenotypes. We performed low-pass whole-genome sequencing in 680 individuals from the InCHIANTI study to test two primary hypotheses: (i) that sequencing would detect single low-frequency-large effect variants that explained similar amounts of phenotypic variance as single common variants, and (ii) that some common variant associations could be explained by low-frequency variants...
March 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/25322173/factors-associated-with-corneal-graft-survival-in-the-cornea-donor-study
#15
RANDOMIZED CONTROLLED TRIAL
Alan Sugar, Robin L Gal, Craig Kollman, Dan Raghinaru, Mariya Dontchev, Christopher R Croasdale, Robert S Feder, Edward J Holland, Jonathan H Lass, Jonathan I Macy, Mark J Mannis, Patricia W Smith, Sarkis H Soukiasian, Roy W Beck
IMPORTANCE: The Cornea Donor Study (CDS) showed that donor age is not a factor in survival of most penetrating keratoplasties for endothelial disease. Secondary analyses confirm the importance of surgical indication and presence of glaucoma in outcomes at 10 years. OBJECTIVE: To assess the relationship between donor and recipient factors and corneal graft survival in the CDS. DESIGN, SETTING, AND PARTICIPANTS: Multicenter prospective, double-masked, controlled clinical trial conducted at 80 clinical sites...
March 2015: JAMA Ophthalmology
https://www.readbyqxmd.com/read/25119961/corneal-graft-rejection-10-years-after-penetrating-keratoplasty-in-the-cornea-donor-study
#16
Steven P Dunn, Robin L Gal, Craig Kollman, Dan Raghinaru, Mariya Dontchev, Christopher L Blanton, Edward J Holland, Jonathan H Lass, Kenneth R Kenyon, Mark J Mannis, Shahzad I Mian, Christopher J Rapuano, Walter J Stark, Roy W Beck
PURPOSE: The aim of this study was to assess the effect of donor and recipient factors on corneal allograft rejection and evaluate whether a rejection event was associated with graft failure. METHODS: One thousand ninety subjects undergoing penetrating keratoplasty for a moderate risk condition (principally Fuchs dystrophy or pseudophakic corneal edema) were followed for up to 12 years. Associations of baseline recipient and donor factors with the occurrence of a rejection event were assessed in univariate and multivariate proportional hazards models...
October 2014: Cornea
https://www.readbyqxmd.com/read/25000141/professor-dr-med-oskar-fehr-the-fate-of-an-outstanding-german-jewish-ophthalmologist-an-early-contributor-to-cornea-and-external-disease
#17
Walter Lisch, Mark J Mannis
PURPOSE: The aim of this study was to recount the immense and abrupt change in the private and professional life of a prominent German-Jewish ophthalmologist in the transition from democracy to dictatorship in Germany during the first half of the 20th century. METHODS: This involves a Retrospective analysis of Fehr's clinical and scientific work as the first assistant of Julius Hirschberg's world-famous eye clinic in Berlin; evaluation of Fehr's successful tenure as a chair of Virchow's Eye Hospital; the catastrophic influence of Hitler's seizure of power on the private and professional lives of German-Jewish physicians; and an analysis of Fehr's personal and professional will to continue the practice of medicine in England...
August 2014: Cornea
https://www.readbyqxmd.com/read/24999101/interfacial-phenomena-and-the-ocular-surface
#18
REVIEW
Bernardo Yañez-Soto, Mark J Mannis, Ivan R Schwab, Jennifer Y Li, Brian C Leonard, Nicholas L Abbott, Christopher J Murphy
Ocular surface disorders, such as dry eye disease, ocular rosacea, and allergic conjunctivitis, are a heterogeneous group of diseases that require an interdisciplinary approach to establish underlying causes and develop effective therapeutic strategies. These diverse disorders share a common thread in that they involve direct changes in ocular surface chemistry as well as the rheological properties of the tear film and topographical attributes of the cellular elements of the ocular surface. Knowledge of these properties is crucial to understand the formation and stability of the preocular tear film...
July 2014: Ocular Surface
https://www.readbyqxmd.com/read/24812070/mushrooms-and-health-summit-proceedings
#19
Mary Jo Feeney, Johanna Dwyer, Clare M Hasler-Lewis, John A Milner, Manny Noakes, Sylvia Rowe, Mark Wach, Robert B Beelman, Joe Caldwell, Margherita T Cantorna, Lisa A Castlebury, Shu-Ting Chang, Lawrence J Cheskin, Roger Clemens, Greg Drescher, Victor L Fulgoni, David B Haytowitz, Van S Hubbard, David Law, Amy Myrdal Miller, Bart Minor, Susan S Percival, Gabriela Riscuta, Barbara Schneeman, Suzanne Thornsbury, Cheryl D Toner, Catherine E Woteki, Dayong Wu
The Mushroom Council convened the Mushrooms and Health Summit in Washington, DC, on 9-10 September 2013. The proceedings are synthesized in this article. Although mushrooms have long been regarded as health-promoting foods, research specific to their role in a healthful diet and in health promotion has advanced in the past decade. The earliest mushroom cultivation was documented in China, which remains among the top global mushroom producers, along with the United States, Italy, The Netherlands, and Poland...
July 2014: Journal of Nutrition
https://www.readbyqxmd.com/read/24322799/simultaneous-surgery-for-corneal-edema-and-aphakia-dsek-and-placement-of-a-retropupillary-iris-claw-lens
#20
Mauricio Vélez F, Mark J Mannis, Luis Izquierdo, Juan G Sánchez, Luis F Velásquez, Sebastián Rojas
PURPOSE: The aim was to report the surgical outcomes of simultaneous Descemet stripping endothelial keratoplasty (DSEK) with a retropupillary fixated iris claw lens in patients with aphakic corneal edema without capsular support. METHODS: The clinical records of aphakic patients with corneal edema and no capsular support who underwent a combined DSEK and implantation of a retropupillary fixated iris claw lens (Artisan) were evaluated. Presurgical and postsurgical best-corrected visual acuity, postsurgical refraction, and endothelial cell count were analyzed at the first and sixth months after the surgery and were imaged with anterior segment ultrasound biomicroscopy...
February 2014: Cornea
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