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Mark j Mannis

Mark J Mannis, Joel Sugar
No abstract text is available yet for this article.
May 8, 2018: Cornea
Jemima Albayda, Lisa Christopher-Stine, Clifton O Bingham Iii, Julie J Paik, Eleni Tiniakou, Seth Billings, O Manny Uy, Philippe Burlina
OBJECTIVES: Imaging plays a role in myositis assessment by detecting muscle changes indicative of pathology. This study was conducted to determine the ultrasonographic pattern of muscle involvement in patients with inclusion body myositis (IBM) through an assessment of muscle echointensity. METHODS: Sixty-two individuals were consecutively studied, 18 with IBM, 16 with polymyositis or dermatomyositis and 28 normal controls. Standardised scans were completed bilaterally for the deltoids, biceps, flexor digitorum profundus (FDP), flexor carpi ulnaris, rectus femoris, tibialis anterior and gastrocnemius assessing for muscle echointensity changes...
May 8, 2018: Clinical and Experimental Rheumatology
Gretl Hendrickx, Vere M Borra, Ellen Steenackers, Timur A Yorgan, Christophe Hermans, Eveline Boudin, Jérôme J Waterval, Ineke D C Jansen, Tolunay Beker Aydemir, Niels Kamerling, Geert J Behets, Christine Plumeyer, Patrick C D'Haese, Björn Busse, Vincent Everts, Martin Lammens, Geert Mortier, Robert J Cousins, Thorsten Schinke, Robert J Stokroos, Johannes J Manni, Wim Van Hul
Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively accumulates intracellular zinc, resulting in hyper-activation of cAMP-CREB and NFAT signaling. Conditional knock-in mice overexpressing L438R Zip14 in osteoblasts have a severe skeletal phenotype marked by a drastic increase in cortical thickness due to an enhanced endosteal bone formation, resembling the underlying pathology in HCI patients...
April 5, 2018: PLoS Genetics
Soohyun Kim, Sara M Thomasy, David Ramsey, Min Zhao, Mark J Mannis, Christopher J Murphy
The course travelled by corneal epithelial cells from their stem cell niche at the limbus toward the vertex of the cornea is normally not evident due to their transparency, but in certain conditions, the epithelial cells can be rendered visible to the clinician. In such cases, the pathway taken by epithelial cells can manifest as a whorl pattern described using a variety of terms including hurricane keratitis/keratopathy, vortex keratopathy, whorl keratopathy, cornea verticillata, and at times, named after causative agents as exemplified by amiodarone keratopathy...
February 6, 2018: Veterinary Ophthalmology
Mark J Mannis, Jennifer J Ling, Ralph Kyrillos, Melissa Barnett
PURPOSE: To assess the existing literature on the subject of keratoconus and personality and to propose a theory that might account for the perceived personality changes associated with this condition. METHODS: A literature search was conducted in the PubMed database using the term "keratoconus" in combination with keywords such as personality, psychiatry, psychology, anxiety, depression, or psychosis. A total of 15 articles pertaining to personality and psychiatric disorders in keratoconus were retained and reviewed...
March 2018: Cornea
Catherine E Oldenburg, N Venkatesh Prajna, Abdou Amza, Allison Loh, Nisha R Acharya, Mark J Mannis, Thomas M Lietman
No abstract text is available yet for this article.
December 1, 2017: JAMA Ophthalmology
Jennifer J Ling, Derek J Bays, George R Thompson, Ala Moshiri, Mark J Mannis
PURPOSE: To describe a case of Coccidioides endophthalmitis that resulted in a favorable visual outcome after a combined medical and surgical approach. METHODS: A 33-year-old previously healthy woman was referred for evaluation of dyspnea and left-sided vision loss, which began 3 months before, after a trip to Nevada. She was found to have a pulmonary cavitary lesion and fluffy white material in the anterior chamber. An aqueous and vitreous paracentesis grew Coccidioides species...
November 2017: Cornea
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
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
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
Mazen Y Choulakian, Jennifer Y Li, Samuel Ramos, Mark J Mannis
No abstract text is available yet for this article.
April 2016: Cornea
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
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
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
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
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
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
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
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
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
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