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https://www.readbyqxmd.com/read/28709447/cryptic-amyloidogenic-elements-in-mutant-nefh-causing-charcot-marie-tooth-2-trigger-aggresome-formation-and-neuronal-death
#1
Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients...
July 14, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28704825/dexamethasone-implants-in-diabetic-macular-edema-patients-with-high-visual-acuity
#2
Riccardo Sacconi, Maurizio Battaglia Parodi, Stefano Casati, Rosangela Lattanzio, Giorgio Marchini, Francesco Bandello
PURPOSE: To evaluate the effects of intravitreal dexamethasone (DEX) implants in patients affected by diabetic macular edema (DME) with high best-corrected visual acuity (BCVA) and contraindications to therapy with anti-vascular endothelial growth factor over a 12-month follow-up. METHODS: In this interventional nonrandomized clinical study, 14 consecutive patients (14 eyes) affected by DME with a BCVA of 0.3 LogMAR or better were prospectively enrolled. All patients were treated with a sustained-release 700-μg DEX implant at baseline, revaluated every 6 weeks, and retreated on a pro re nata basis...
July 14, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28704293/analysis-of-neural-crest-cells-from-charcot-marie-tooth-disease-patients-demonstrates-disease-relevant-molecular-signature
#3
Fukiko Kitani-Morii, Keiko Imamura, Takayuki Kondo, Ryo Ohara, Takako Enami, Ran Shibukawa, Takuya Yamamoto, Kazuya Sekiguchi, Junya Toguchida, Toshiki Mizuno, Masanori Nakagawa, Haruhisa Inoue
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. The majority of CMT is demyelinating type (demyelinating CMT) caused by Schwann cell involvement. Although a large number of genes responsible for demyelinating CMT have been found, the common molecular target of the pathophysiology caused by these different genes in demyelinating CMT is still unknown. We generated induced pluripotent stem cells (iPSCs) from healthy controls and patients with demyelinating CMT caused by duplication in peripheral myelin protein 22 kDa (PMP22) or point mutations in myelin protein zero (MPZ) or early growth response 2 (EGR2)...
July 12, 2017: Neuroreport
https://www.readbyqxmd.com/read/28697703/retrospective-analysis-of-the-effect-of-aflibercept-loading-dose-on-the-retinal-vessel-diameters-in-patients-with-treatment-naive-neovascular-amd
#4
Mehmet Tetikoğlu, Muhammed Mustafa Kurt, Hacı Murat Sağdık, Serdar Aktaş, Medine Aslı Yıldırım, Fatih Özcura
BACKGROUND: To evaluate the effects of intravitreal aflibercept (IVA) on retinal vessel diameters in patients with neovascular age-related macular degeneration (AMD). DESIGN, SETTING, AND PARTICIPANTS: A retrospective study conducted at the Kutahya Dumlupinar University Faculty of Medicine included fifteen eyes of fifteen patients with treatment naive neovascular AMD. METHODS: All eyes received IVA injections once per month for 3 months; untreated contralateral eyes were used as controls...
July 11, 2017: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/28697611/comparison-of-cow-side-diagnostic-tests-for-subclinical-mastitis-of-dairy-cows-in-musanze-district-rwanda
#5
Blaise Iraguha, Humphrey Hamudikuwanda, Borden Mushonga, Erick Kandiwa, Jean P Mpatswenumugabo
Four subclinical mastitis diagnostic tests (the UdderCheck® test [a lactate dehydrogenasebased test], the California Mastitis Test [CMT], the Draminski® test [a conductivity-based test] and the PortaSCC® test [a portable somatic cell count-based test]) were compared in a study comprising crossbreed dairy cows (n = 30) during September and October 2015. Sensitivity and specificity of the CMT, Draminski® and UdderCheck® tests were compared with the PortaSCC® as reference. The CMT, Draminski® and UdderCheck® test results were compared with the results of the PortaSCC® test using kappa statistics...
June 21, 2017: Journal of the South African Veterinary Association
https://www.readbyqxmd.com/read/28695982/combinations-of-genotoxic-tests-for-the-evaluation-of-group-1-iarc-carcinogens
#6
REVIEW
Jacky Bhagat
Many of the known human carcinogens are potent genotoxins that are efficiently detected as carcinogens in human populations but certain types of compounds such as immunosuppressants, sex hormones, etc. act via non-genotoxic mechanism. The absence of genotoxicity and the diversity of modes of action of non-genotoxic carcinogens make predicting their carcinogenic potential extremely challenging. There is evidence that combinations of different short-term tests provide a better and efficient prediction of human genotoxic and non-genotoxic carcinogens...
July 11, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28687322/chemically-modified-tetracyclines-an-emerging-host-modulator-in-chronic-periodontitis-patients-a-randomized-double-blind-placebo-controlled-clinical-trial
#7
Abdullah A Alyousef, Darshan Devang Divakar, Muzaheed, Abdulaziz Abdullah Al Kheraif
Although periodontal diseases are caused by some of the specific pathogens, most of the tissue damage is caused by the host reaction to disease and not actually by the infections. Therefore, host modulatory therapy (HMT) has advanced benefit for the treatment of periodontitis, which works basically by reducing tissue destruction and regeneration in periodontium by altering the critical aspects of host response regulation and up regulating defensive regenerative responses. The present study was conducted with the goal to test an innovative therapeutic option using chemically modified tetracycline in patients affected with generalized, moderate and severe chronic periodontitis...
July 4, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28687219/diabetic-macular-edema-with-and-without-subfoveal-neuroretinal-detachment-two-different-morphological-and-functional-entities
#8
Stela Vujosevic, Tommaso Torresin, Marianna Berton, Silvia Bini, Enrica Convento, Edoardo Midena
PURPOSE: To assess specific morphologic and functional characteristics in eyes with diabetic macular edema (DME) with subfoveal neuroretinal detachment (SND+) vs DME without SND (SND-). DESIGN: Cross-sectional, prospective, comparative case series. METHODS: Seventy two patients (72 eyes: 22 eyes SND+ and 50 eyes SND-) with treatment-naïve, center-involving DME were evaluated. Data gathering included fundus color photographs, fluorescein angiography, spectral-domain optical coherence tomography (SD-OCT), best corrected visual acuity (BCVA), and microperimetry...
July 4, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28684869/a-proposal-of-a-perfect-graphene-absorber-with-enhanced-design-and-fabrication-tolerance
#9
Sangjun Lee, Thang Q Tran, Hyungjun Heo, Myunghwan Kim, Sangin Kim
We propose a novel device structure for the perfect absorption of a one-sided lightwavve illumination, which consists of a high-contrast grating (HCG) and an evanescently coupled slab with an absorbing medium (graphene). The operation principle and design process of the proposed structure are analyzed using the coupled mode theory (CMT), which is confirmed by the rigorous coupled wave analysis (RCWA). According to the CMT analysis, in the design of the proposed perfect absorber, the HCG, functioning as a broadband reflector, and the lossy slab structure can be optimized separately...
July 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28683927/cognitive-control-during-a-spatial-stroop-task-comparing-conflict-monitoring-and-prediction-of-response-outcome-theories
#10
Luís Pires, José Leitão, Chiara Guerrini, Mário R Simões
Cognitive control allows information processing and behaviour to vary adaptively from moment to moment depending on current goals. Two of the most prominent theories that have been proposed to account for the processing of cognitive control are the Conflict Monitoring Theory (CMT) and the Prediction of Response-Outcome Theory (PRO). According to both theories, the implementation of cognitive control during a trial in a conflict task reflects processing events that occurred in the preceding trial. Both CMT and PRO advocate that the detection of conflict situations leads to the recruitment of cognitive control, but they differ regarding the processing underpinnings of cognitive control during conflict resolution...
July 3, 2017: Acta Psychologica
https://www.readbyqxmd.com/read/28678038/new-developments-in-charcot-marie-tooth-neuropathy-and-related-diseases
#11
Davide Pareyson, Paola Saveri, Chiara Pisciotta
PURPOSE OF REVIEW: Charcot-Marie-Tooth disease (CMT) and related neuropathies represent a heterogeneous group of hereditary disorders. The present review will discuss the most recent advances in the field. RECENT FINDINGS: Knowledge of CMT epidemiology and frequency of the main associated genes is increasing, with an overall prevalence estimated at 10-28/100 000. In the last years, the huge number of newly uncovered genes, thanks to next-generation sequencing techniques, is challenging the current classification of CMT...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28677541/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-36-year-old-charcot-marie-tooth-disease-patient-with-gjb1-mutation-cmtx
#12
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You
Charcot-Marie-Tooth disease (CMTX) is inherited neurological disorder caused by gap junction beta 1 gene (GJB1) mutation. We generated induced pluripotent stem cell (iPSC) line from 36-year-old CMTX disease patient by electroporation of skin fibroblasts with episomal vectors encoding OCT4, SOX2, KLF4, L-MYC, LIN28 and shRNA-p53. Established iPSCs expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained GJB1 mutation. This CMT patient-derived iPSC line could be useful in vitro tool for CMTX research as disease modeling and drug development...
May 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28676991/outcomes-of-microscope-integrated-intraoperative-optical-coherence-tomography-guided-center-sparing-internal-limiting-membrane-peeling-for-myopic-traction-maculopathy-a-novel-technique
#13
Atul Kumar, Raghav Ravani, Aditi Mehta, Sriram Simakurthy, Chirakshi Dhull
PURPOSE: To evaluate the outcomes of pars plana vitrectomy (PPV) with microscope-integrated intraoperative optical coherence tomography (I-OCT)-guided traction removal and center-sparing internal limiting membrane (cs-ILM) peeling. METHODS: Nine eyes with myopic traction maculopathy as diagnosed on SD-OCT underwent PPV with I-OCT-guided cs-ILM peeling and were evaluated prospectively for resolution of central macular thickness (CMT) and improvement in best-corrected visual acuity (BCVA), and complications, if any, were noted...
July 4, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28673555/brain-involvement-in-charcot-marie-tooth-disease-due-to-ganglioside-induced-differentiation-associated-protein-1-mutation
#14
Fouad Al-Ghamdi, Irina Anselm, Edward Yang, Partha S Ghosh
Charcot-Marie-Tooth (CMT) due to ganglioside-induced differentiation associated-protein 1 (GDAP1) gene mutation can be inherited as an autosomal recessive (severe phenotype) or dominant (milder phenotype) disorder. GDAP1 protein, located in the outer mitochondrial membrane, is involved in the mitochondrial fission. Brain imaging abnormalities have not been reported in this condition. We described an 8-year-old boy who had an early onset autosomal recessive neuropathy. Whole exome sequencing revealed compound heterozygous mutations in the GDAP1 gene: c...
June 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28671260/phenotypic-and-genotypic-characterization-of-staphylococcus-aureus-isolates-in-milk-from-flocks-diagnosed-with-subclinical-mastitis
#15
A R E O Xavier, A C Almeida, C N Souza, L M V Silva, A X A Ruas, D A Sanglard, A F M Júnior, A M E Oliveira, M A S Xavier
The Staphylococcus aureus is the most common isolated microorganism in ruminant animal species diagnostic with clinical or subclinical mastitis. Dairy herds with these diseases can transfer S. aureus into the milk supply, which can lead to food poisoning in humans. The objective of this study was to evaluate the profile of antimicrobial susceptibility, the presence of femA gene, the genetic relationships among isolates of S. aureus obtained from milk originating from flocks diagnosed with subclinical mastitis in nine rural properties in the northern of Minas Gerais State...
June 29, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28669366/effects-of-self-selected-exercise-on-strength-in-charcot-marie-tooth-disease-subtypes
#16
Djurdja Djordjevic, Sabrina Fell, Steven Baker
BACKGROUND: Preliminary studies have supported the utility of exercise as a treatment for Charcot-Marie-Tooth disease (CMT) patients. Despite being the most common inherited neuropathy, there remains a paucity of guidelines for CMT management. METHODS: A retrospective chart review was performed on 297 CMT patients. Self-reported exercise and strength results from standardized dynamometer testing were obtained from adult patients' first visits. Values were converted and analyzed based on previously reported age- and sex-matched normative values...
July 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28669041/two-year-results-of-a-treat-and-extend-regimen-with-aflibercept-for-polypoidal-choroidal-vasculopathy
#17
Masahiro Morimoto, Hidetaka Matsumoto, Kensuke Mimura, Hideo Akiyama
PURPOSE: To evaluate the effects of aflibercept therapy using a treat-and-extend regimen on treatment-naïve polypoidal choroidal vasculopathy (PCV). METHODS: In a retrospective interventional case series of 58 eyes of 58 patients with PCV, we assessed best-corrected visual acuity (BCVA), central macular thickness (CMT), central choroidal thickness (CCT), and number of injections for 2 years. Polypoidal lesions were also evaluated before treatment and after the loading phase by indocyanine green angiography...
July 1, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28664414/do-obstetric-risk-factors-truly-influence-the-etiopathogenesis-of-congenital-muscular-torticollis
#18
N Hardgrib, O Rahbek, B Møller-Madsen, R D Maimburg
BACKGROUND: Congenital muscular torticollis (CMT) is seen in childhood and presents within months after birth. The etiology remains unknown; however, medical textbooks suggest trauma at birth as a main reason. The aim of this study was to systematically describe obstetric and perinatal outcomes in a population of children with a confirmed congenital muscular torticollis diagnosis. MATERIALS AND METHODS: Children with a validated diagnosis of congenital muscular torticollis born at Aarhus University Hospital from 2000 to 2014 were included in the study...
June 29, 2017: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/28660751/clinical-and-genetic-diversities-of-charcot-marie-tooth-disease-with-mfn2-mutations-in-a-large-case-study
#19
Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Charcot-Marie-Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1334 unrelated patients with clinically suspected CMT referred by neurological and neuropediatric departments throughout Japan. We conducted mutation screening using a DNA microarray, targeted resequencing, and whole-exome sequencing...
June 29, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28660748/angiotensin-ii-subtype-1a-receptor-signaling-in-resident-hepatic-macrophages-induces-liver-metastasis-formation
#20
Yuki Shimizu, Hideki Amano, Yoshiya Ito, Tomohiro Betto, Sakiko Yamane, Tomoyoshi Inoue, Nobuyuki Nishizawa, Yoshio Matsui, Mariko Kamata, Masaki Nakamura, Hidero Kitasato, Wasaburo Koizumi, Masataka Majima
Liver metastases from colorectal cancer (CRC) are a clinically significant problem. The renin-angiotensin system (RAS) is involved in the tumor growth and metastases. This study was designed to evaluate the role of angiotensin II subtype receptor 1a (AT1a) in the formation of liver metastasis in CRC. A model of liver metastasis was made by intra-splenic injection of mouse colon cancer (CMT-93) into AT1a knockout mice (AT1aKO) and wild-type (C57BL/6) mice (WT). As compared with WT, the liver weight and liver metastatic rate were significantly lower in AT1aKO...
June 29, 2017: Cancer Science
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