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https://www.readbyqxmd.com/read/29016863/a-tubb6-mutation-is-associated-with-autosomal-dominant-non-progressive-congenital-facial-palsy-bilateral-ptosis-and-velopharyngeal-dysfunction
#1
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Ruth Lang-Roth, Gudrun Nürnberg, Michaela Thoenes, Jutta Becker, Janine Altmüller, Alexander E Volk, Christian Kubisch, Raoul Heller
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28904220/congenital-cranial-dysinnervation-disorders-a-literature-review
#2
Rebecca Fels
Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain...
January 2017: American Orthoptic Journal
https://www.readbyqxmd.com/read/28662816/premature-ventricular-contraction-detection-combining-deep-neural-networks-and-rules-inference
#3
Fei-Yan Zhou, Lin-Peng Jin, Jun Dong
Premature ventricular contraction (PVC), which is a common form of cardiac arrhythmia caused by ectopic heartbeat, can lead to life-threatening cardiac conditions. Computer-aided PVC detection is of considerable importance in medical centers or outpatient ECG rooms. In this paper, we proposed a new approach that combined deep neural networks and rules inference for PVC detection. The detection performance and generalization were studied using publicly available databases: the MIT-BIH arrhythmia database (MIT-BIH-AR) and the Chinese Cardiovascular Disease Database (CCDD)...
June 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28248994/hybrid-weakness-in-a-rice-interspecific-hybrid-is-nitrogen-dependent-and-accompanied-by-changes-in-gene-expression-at-both-total-transcript-level-and-parental-allele-partitioning
#4
Shuai Sun, Ying Wu, Xiuyun Lin, Jie Wang, Jiamiao Yu, Yue Sun, Yiling Miao, Qiuping Li, Karen A Sanguinet, Bao Liu
BACKGROUND: Hybrid weakness, a phenomenon opposite to heterosis, refers to inferior growth and development in a hybrid relative to its pure-line parents. Little attention has been paid to the phenomenological or mechanistic aspect of hybrid weakness, probably due to its rare occurrence. METHODOLOGY/PRINCIPAL FINDINGS: Here, using a set of interspecific triploid F1 hybrids between Oryza sativa, ssp. japonica (genome AA) and a tetraploid wild rice species, O. alta (genome, CCDD), we investigated the phenotypic and physiological differences between the F1 hybrids and their parents under normal and nitrogen-limiting conditions...
2017: PloS One
https://www.readbyqxmd.com/read/28156137/chromosomal-distribution-patterns-of-the-ac-10-microsatellite-and-other-repetitive-sequences-and-their-use-in-chromosome-rearrangement-analysis-of-species-of-the-genus-avena
#5
Araceli Fominaya, Yolanda Loarce, Alexander Montes, Esther Ferrer
Fluorescence in situ hybridization (FISH) was used to determine the physical location of the (AC)10 microsatellite in metaphase chromosomes of six diploid species (AA or CC genomes), two tetraploid species (AACC genome), and five cultivars of two hexaploid species (AACCDD genome) of the genus Avena, a genus in which genomic relationships remain obscure. A preferential distribution of the (AC)10 microsatellite in the pericentromeric and interstitial regions was seen in both the A- and D-genome chromosomes, while in C-genome chromosomes the majority of signals were located in the pericentromeric heterochromatic regions...
March 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/27837354/congenital-cranial-dysinnervation-disorders
#6
REVIEW
Anupam Singh, P K Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana, Chirag Bahuguna
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility...
December 2017: International Ophthalmology
https://www.readbyqxmd.com/read/27256035/the-electronic-patient-reported-outcome-tool-testing-usability-and-feasibility-of-a-mobile-app-and-portal-to-support-care-for-patients-with-complex-chronic-disease-and-disability-in-primary-care-settings
#7
Carolyn Steele Gray, Ashlinder Gill, Anum Irfan Khan, Parminder Kaur Hans, Kerry Kuluski, Cheryl Cott
BACKGROUND: People experiencing complex chronic disease and disability (CCDD) face some of the greatest challenges of any patient population. Primary care providers find it difficult to manage multiple discordant conditions and symptoms and often complex social challenges experienced by these patients. The electronic Patient Reported Outcome (ePRO) tool is designed to overcome some of these challenges by supporting goal-oriented primary care delivery. Using the tool, patients and providers collaboratively develop health care goals on a portal linked to a mobile device to help patients and providers track progress between visits...
2016: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/26923563/complete-chloroplast-genomes-of-aegilops-tauschii-coss-and-ae-cylindrica-host-sheds-light-on-plasmon-d-evolution
#8
Mari Gogniashvili, Tamar Jinjikhadze, Inesa Maisaia, Maia Akhalkatsi, Adam Kotorashvili, Nato Kotaria, Tengiz Beridze, Alexander Ju Dudnikov
Hexaploid wheat (Triticum aestivum L., genomes AABBDD) originated in South Caucasus by allopolyploidization of the cultivated Emmer wheat T. dicoccum (genomes AABB) with the Caucasian Ae. tauschii ssp strangulata (genomes DD). Genetic variation of Ae. tauschii is an important natural resource, that is why it is of particular importance to investigate how this variation was formed during Ae. tauschii evolutionary history and how it is presented through the species area. The D genome is also found in tetraploid Ae...
November 2016: Current Genetics
https://www.readbyqxmd.com/read/26892952/improving-patient-experience-and-primary-care-quality-for-patients-with-complex-chronic-disease-using-the-electronic-patient-reported-outcomes-tool-adopting-qualitative-methods-into-a-user-centered-design-approach
#9
Carolyn Steele Gray, Anum Irfan Khan, Kerry Kuluski, Ian McKillop, Sarah Sharpe, Arlene S Bierman, Renee F Lyons, Cheryl Cott
BACKGROUND: Many mHealth technologies do not meet the needs of patients with complex chronic disease and disabilities (CCDDs) who are among the highest users of health systems worldwide. Furthermore, many of the development methodologies used in the creation of mHealth and eHealth technologies lack the ability to embrace users with CCDD in the specification process. This paper describes how we adopted and modified development techniques to create the electronic Patient-Reported Outcomes (ePRO) tool, a patient-centered mHealth solution to help improve primary health care for patients experiencing CCDD...
2016: JMIR Research Protocols
https://www.readbyqxmd.com/read/26163776/considerations-on-the-etiology-of-congenital-brown-syndrome
#10
Tracey Coussens, Forrest J Ellis
PURPOSE OF REVIEW: Brown syndrome is an ocular motility disorder characterized by limited volitional and passive elevation of the eye in adduction. Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital Brown syndrome may be related to neurodevelopmental abnormalities of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD)...
July 2015: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/25832746/genetic-effect-of-the-aegilops-caudata-plasmon-on-the-manifestation-of-the-ae-cylindrica-genome
#11
Koichiro Tsunewaki, Naoki Mori, Shigeo Takumi
In the course of reconstructing Aegilops caudata from its own genome (CC) and its plasmon, which had passed half a century in common wheat (genome AABBDD), we produced alloplasmic Ae. cylindrica (genome CCDD) with the plasmon of Ae. caudata. This line, designated (caudata)-CCDD, was found to express male sterility in its second substitution backcross generation (SB2) of (caudata)-AABBCCDD pollinated three times with the Ae. cylindrica pollen. We repeatedly backcrossed these SB2 plants with the Ae. cylindrica pollen until the SB5 generation, and SB5F2 progeny were produced by self-pollination of the SB5 plants...
2014: Genes & Genetic Systems
https://www.readbyqxmd.com/read/25803556/-congenital-cranial-dysinnervation-disorders-ccdd
#12
REVIEW
M M Nentwich, M F Nentwich, J Maertz, U Brandlhuber, G Rudolph
Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as "congenital fibrosis syndromes". Based on the results of genetic testing, these ocular motility disorders are now referred to as "congenital cranial dysinnervation disorders" (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles...
March 2015: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/25633065/the-congenital-cranial-dysinnervation-disorders
#13
REVIEW
N J Gutowski, J K Chilton
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance...
July 2015: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/25581513/possible-rare-congenital-dysinnervation-disorder-congenital-ptosis-associated-with-adduction
#14
Sílvia Mendes, Diana Beselga, Sónia Campos, Arminda Neves, Joana Campos, Sílvia Carvalho, Eduardo Silva, João Paulo Castro Sousa
Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD)...
2015: Strabismus
https://www.readbyqxmd.com/read/25500261/recessive-mutations-in-col25a1-are-a-cause-of-congenital-cranial-dysinnervation-disorder
#15
Jameela M A Shinwari, Arif Khan, Salma Awad, Zakia Shinwari, Ayodele Alaiya, Mohamad Alanazi, Asma Tahir, Coralie Poizat, Nada Al Tassan
Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal development have been associated with different CCDD phenotypes. By using linkage analysis, candidate gene screening, and exome sequencing, we identified three mutations in collagen, type XXV, alpha 1 (COL25A1) in individuals with autosomal-recessive inheritance of CCDD ophthalmic phenotypes. These mutations affected either stability or levels of the protein. We further detected altered levels of sAPP (neuronal protein involved in axon guidance and synaptogenesis) and TUBB3 (encoded by TUBB3, which is mutated in CFEOM3) as a result of null mutations in COL25A1...
January 8, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25428028/tying-ehealth-tools-to-patient-needs-exploring-the-use-of-ehealth-for-community-dwelling-patients-with-complex-chronic-disease-and-disability
#16
Carolyn Steele Gray, Daniel Miller, Kerry Kuluski, Cheryl Cott
BACKGROUND: Health policy makers have recently shifted attention towards examining high users of health care, in particular patients with complex chronic disease and disability (CCDD) characterized as having multimorbidities and care needs that require ongoing use of services. The adoption of eHealth technologies may be a key strategy in supporting and providing care for these patients; however, these technologies need to address the specific needs of patients with CCDD. This paper describes the first phase of a multiphased patient-centered research project aimed at developing eHealth technology for patients with CCDD...
2014: JMIR Research Protocols
https://www.readbyqxmd.com/read/25173900/the-ecel1-related-strabismus-phenotype-is-consistent-with-congenital-cranial-dysinnervation-disorder
#17
Arif O Khan, Ranad Shaheen, Fowzan S Alkuraya
BACKGROUND: Congenital cranial dysinnervation disorders (CCDDs) are phenotypes of congenital incomitant strabismus and/or ptosis related to orbital dysinnervation. CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis. Recently, arthrogryposis with or without strabismus has been shown to be caused by recessive mutations in ECEL1, a gene likely involved in neuromuscular junction formation...
August 2014: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/25103958/independent-allopolyploidization-events-preceded-speciation-in-the-temperate-and-tropical-woody-bamboos
#18
Jimmy K Triplett, Lynn G Clark, Amanda E Fisher, Jun Wen
The objectives of the current study were to investigate the origin of polyploidy in the woody bamboos and examine putative hybrid relationships in one major lineage (the temperate woody bamboos, tribe Arundinarieae). Phylogenetic analyses were based on sequence data from three nuclear loci and 38 species in 27 genera. We identify six ancestral genome donors for contemporary bamboo lineages: temperate woody bamboos (tribe Arundinarieae) contain genomes A and B, tropical woody bamboos (tribe Bambuseae) contain genomes C and D, and herbaceous bamboos (tribe Olyreae) contain genome H; some hexaploid paleotropical bamboos contain genome E in addition to C and D...
October 2014: New Phytologist
https://www.readbyqxmd.com/read/24939891/molecular-analysis-of-oryza-latifolia-desv-ccdd-genome-derived-introgression-lines-and-identification-of-value-added-traits-for-rice-o-sativa-l-improvement
#19
Rosalyn B Angeles-Shim, Ricky B Vinarao, Balram Marathi, Kshirod K Jena
Oryza latifolia is a tetraploid wild Oryza species with a CCDD genome that has been reported to harbor resistance to bacterial blight (BB), brown planthopper, and whitebacked planthopper. Aside from these traits, O. latifolia is also being tapped as a new source of resistance to lodging and high biomass production. To explore the genetic potential of O. latifolia as a novel genetic resource for the improvement of existing O. sativa cultivars, 27 disomic derivatives of O. latifolia monosomic alien addition lines (MAAL) were characterized for alien chromosome segment introgressions and evaluated for yield components, BB resistance, and strong stem characteristics...
September 2014: Journal of Heredity
https://www.readbyqxmd.com/read/24475916/ccdd-phenotype-associated-with-a-small-chromosome-2-deletion
#20
Khaled K Abu-Amero, Thomas M Bosley, Altaf A Kondkar, Darren T Oystreck, Arif O Khan
PURPOSE: Some individuals are born with congenital limitation of ocular motility, often associated with ptosis and retraction of the globe. Many of these disorders are now known as the congenital cranial dysinnervation disorders (CCDDs). While several genes have been associated with CCDD phenotypes, there are still patients for whom the genetic basis has not been identified. METHODS: Clinical evaluation and neuroimaging, sequencing of candidate genes, and array comparative genomic hybridization (array CGH)...
2015: Seminars in Ophthalmology
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