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https://www.readbyqxmd.com/read/29771953/mitochondrial-disease-patient-motivations-and-barriers-to-participate-in-clinical-trials
#1
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M McCormick, Amy Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xiaoyan Wang, John L P Thompson, Marni J Falk
BACKGROUND: Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD. METHODS: A survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents)...
2018: PloS One
https://www.readbyqxmd.com/read/29731894/integration-sites-of-human-papillomavirus-18-in-esophageal-cancer-samples
#2
Shuying Li, Zhanjun Liu, Jianghong Yan, Shangbo Sun, Xiaoli Hou, Dianqing Liu, Ke Zhang, Jin-Tao Li
To investigate the association between human papillomavirus (HPV) infection and esophageal cancer, genomic DNA was isolated from 189 samples obtained from patients with esophageal carcinoma, and HPV DNA was identified using the polymerase chain reaction (PCR) with the following specific primers: My09/11 for HPV L1 and HPV18 E6 for HPV18. The HPV18 gene products were sequenced to identify the HPV genotype and the HPV18 integration site was verified using PCR amplification of papillomavirus oncogene transcripts...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29731553/estimation-of-cortisol-levels-in-patients-with-premalignant-disorders-and-oral-squamous-cell-carcinoma
#3
Priyanka Sharma, Simarpreet Virk Sandhu, Rajat Bhandari, Indu Verma, Ramanpreet Kaur Bhullar, Rajbir Kaur Khangura
Introduction: Oral cancer has been a scourge on the human population that drastically affects the quality of life-causing chronic anxiety and depression leading to disturbance in hypothalamus pituitary axis reflected by cortisol hormone dysregulation. Stress hormones affect tumor progression at different levels such as initiation, tumor growth and metastasis. Cortisol dysregulation has been reported in other malignancies; however, a thorough review of English literature revealed only anecdotal studies investigating it in patients with oral squamous cell carcinoma (OSCC)...
January 2018: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/29729355/insertion-of-proteolipid-protein-into-mitochondria-but-not-dm20-regulates-metabolism-of-cells
#4
Mallika Somayajulu, Denise A Bessert, Maik Hüttemann, Jasloveleen Sohi, John Kamholz, Robert P Skoff
Proteolipid protein (PLP), besides its adhesive role in myelin, has been postulated to have multiple cellular functions. One well-documented function of PLP is regulation of oligodendrocyte (Olg) apoptosis. In contrast, DM20, an alternatively spliced product of the PLP1/Plp1 gene, has been proposed to have functions that are unique from PLP but these functions have never been elucidated. Here, we compare metabolism of PLP and DM20, and show that oxidative phosphorylation (OxPhos) was significantly decreased in Plp1 but not DM20 or EGFP expressing cells...
May 2, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29725841/auditory-function-in-pelizaeus-merzbacher-disease
#5
Thierry Morlet, Kyoko Nagao, S Charles Bean, Sara E Mora, Sarah E Hopkins, Grace M Hobson
Pelizaeus-Merzbacher disease (PMD; MIM 312080), an inherited defect of central nervous system myelin formation, affects individuals in many ways, including their hearing and language abilities. The aim of this study was to assess the auditory abilities in 18 patients with PMD by examining the functional processes along the central auditory pathways using auditory brainstem responses (ABR) and cortical auditory evoked potentials (CAEP) in response to speech sounds. The significant ABR anomalies confirm the existence of dyssynchrony previously described at the level of the brainstem in patients with PMD...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29725023/population-coding-of-conditional-probability-distributions-in-dorsal-premotor-cortex
#6
Joshua I Glaser, Matthew G Perich, Pavan Ramkumar, Lee E Miller, Konrad P Kording
Our bodies and the environment constrain our movements. For example, when our arm is fully outstretched, we cannot extend it further. More generally, the distribution of possible movements is conditioned on the state of our bodies in the environment, which is constantly changing. However, little is known about how the brain represents such distributions, and uses them in movement planning. Here, we record from dorsal premotor cortex (PMd) and primary motor cortex (M1) while monkeys reach to randomly placed targets...
May 3, 2018: Nature Communications
https://www.readbyqxmd.com/read/29697219/2-deoxy-2-18f-fluoro-d-glucose-positron-emission-tomography-computed-tomography-in-primary-extranodal-lymphomas-treatment-response-evaluation-and-prognosis
#7
Barbara Salvatore, Rosa Fonti, Amalia De Renzo, Sara Pellegrino, Ida L Ferrara, Ciro G Mainolfi, Luana Marano, Carmine Selleri, Fabrizio Pane, Silvana Del Vecchio, Leonardo Pace
BACKGROUND: We evaluated the role of [18F]FDG PET/CT in tumor response assessment and prognosis of Primary Extranodal Lymphoma (PEL) patients. METHODS: We examined retrospectively, 56 PEL patients: 31 with aggressive diffuse large B cell lymphoma (DLBCL) and 25 with indolent lymphoma (20 mucosa-associated lymphoid tissue lymphoma-MALT and 5 follicular lymphoma). All patients had undergone [18F]FDG PET/CT at diagnosis (PET-I) and 50 of them also after therapy (PET-II)...
April 24, 2018: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29669963/protective-effect-of-remote-ischemic-preconditioning-on-myocardial-damage-after-percutaneous-coronary-intervention-in-stable-angina-patients-with-complex-coronary-lesions-subanalysis-of-a-randomized-controlled-trial
#8
Kentaro Ejiri, Toru Miyoshi, Kunihisa Kohno, Makoto Nakahama, Masayuki Doi, Mitsuru Munemasa, Masaaki Murakami, Atsushi Takaishi, Kazufumi Nakamura, Hiroshi Ito
BACKGROUND: The effect of remote ischemic preconditioning (RIPC) on periprocedural myocardial damage (pMD) in patients undergoing percutaneous coronary intervention (PCI) is controversial. The aim of this study was to investigate the effect of RIPC or intravenous nicorandil on pMD following elective PCI in a subgroup of patients with complex coronary lesions from a multicenter randomized controlled trial.Methods and Results:Patients with stable angina who underwent elective PCI were assigned to 3 groups: control, upper-limb RIPC or intravenous nicorandil...
April 18, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29663518/potentially-malignant-disorders-revisited-the-lichenoid-lesion-proliferative-verrucous-leukoplakia-conundrum
#9
P J Thomson, M L Goodson, D R Smith
BACKGROUND: Clinically identifiable potentially malignant disorders (PMD) precede oral squamous cell carcinoma development. Oral lichenoid lesions (OLL) and proliferative verrucous leukoplakia (PVL) are specific precursor lesions believed to exhibit both treatment resistance and a high risk of malignant transformation (MT). METHODS: A retrospective review of 590 PMD patients treated in Northern England by CO2 laser surgery between 1996 and 2014 was carried out. Lesions exhibiting lichenoid or proliferative verrucous features were identified from the patient database and their clinico-pathological features and outcome post-treatment determined at the study census date of 31 December 2014...
April 16, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29628880/real-time-prediction-of-observed-action-requires-integrity-of-the-dorsal-premotor-cortex-evidence-from-repetitive-transcranial-magnetic-stimulation
#10
Louisa F M Brich, Christine Bächle, Joachim Hermsdörfer, Waltraud Stadler
Studying brain mechanisms underlying the prediction of observed action, the dorsal premotor cortex (PMd) has been suggested a key area. The present study probed this notion using repetitive transcranial magnetic stimulation (rTMS) to test whether interference in this area would affect the accuracy in predicting the time course of object directed actions performed with the right hand. Young and healthy participants observed actions in short videos. These were briefly occluded from view for 600 ms and resumed immediately afterwards...
2018: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29619238/pelizaeus-merzbacher-disease-can-be-a-differential-diagnosis-in-males-presenting-with-severe-neonatal-respiratory-distress-and-hypotonia
#11
Ayako Ueda, Hiroko Shimbo, Yukari Yada, Yasunori Koike, Takanori Yamagata, Hitoshi Osaka
Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was identified in PLP1 , the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29610480/dna-methylation-loss-in-late-replicating-domains-is-linked-to-mitotic-cell-division
#12
Wanding Zhou, Huy Q Dinh, Zachary Ramjan, Daniel J Weisenberger, Charles M Nicolet, Hui Shen, Peter W Laird, Benjamin P Berman
DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 additional human and 206 mouse WGBS datasets. We identified a local CpG sequence context associated with preferential hypomethylation in PMDs. Analysis of CpGs in this context ('solo-WCGWs') identified previously undetected PMD hypomethylation in almost all healthy tissue types...
April 2, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29609407/window-split-structured-frequency-domain-kalman-equalization-scheme-for-large-pmd-and-ultra-fast-rsop-in-an-optical-coherent-pdm-qpsk-system
#13
Zibo Zheng, Nan Cui, Hengying Xu, Xiaoguang Zhang, Wenbo Zhang, Lixia Xi, Yuanyuan Fang, Liangchuan Li
A window-split frequency domain Kalman scheme is proposed in this paper for the equalization of large polarization mode dispersion (PMD) and ultra-fast rotation of state-of-polarization (RSOP) which is an extreme environment due to the Kerr effect and the Faraday effect under the lightning strike near the fiber cables. In order to carry out the proposed Kalman scheme, we give a simplified and equivalent fiber channel model as a replacement for the general model of the polarization effect of the co-existence of PMD and RSOP...
March 19, 2018: Optics Express
https://www.readbyqxmd.com/read/29584714/clemastine-effects-in-rat-models-of-a-myelination-disorder
#14
Christopher A Turski, Gabrielle Turski, Bingming Chen, Hauhui Wang, Moones Heidari, Lingjun Li, Kevin Noguchi, Cara Westmark, Ian Duncan, Chrysanthy Ikonomidou
BACKGROUND: Pelizaeus Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system caused by impaired differentiation of oligodendrocytes. This study was prompted by findings that anti-muscarinic compounds enhance oligodendrocyte differentiation and remyelination in vitro. One of these compounds, clemastine fumarate, is licensed for treatment of allergic conditions. We tested whether clemastine fumarate can promote myelination in two rodent PMD-models, the myelin deficient and the PLP transgenic rat...
March 27, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29580844/primary-maxillary-deficiency-dentofacial-deformities-occlusion-and-facial-esthetic-surgical-outcomes
#15
Jeffrey C Posnick, Sirish Makan, Daniel Bostock, Timothy J Tremont
PURPOSE: The purpose of this study was to document the malocclusion and facial dysmorphology in patients with primary maxillary deficiency (PMD) and chronic obstructive nasal breathing before treatment and the outcomes after bimaxillary orthognathic, genioplasty, and intranasal surgery. MATERIALS AND METHODS: A retrospective cohort study of patients with PMD undergoing bimaxillary orthognathic, chin, and intranasal surgery was implemented. The predictor variables were grouped into demographic, anatomic, operative, and longitudinal follow-up categories...
March 1, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29564407/corneal-hysteresis-and-corneal-resistance-factor-in-pellucid-marginal-degeneration
#16
Mohamad Reza Sedaghat, Hadi Ostadi-Moghadam, Mahmoud Jabbarvand, Farshad Askarizadeh, Hamed Momeni-Moghaddam, Foroozan Narooie-Noori
Purpose: To evaluate and compare corneal hysteresis (CH) and corneal resistance factor (CRF) in pellucid marginal degeneration (PMD), keratoconus (KCN), and normal eyes using the Ocular Response Analyzer (ORA). Methods: In this retrospective study, corneal biomechanical parameters were measured in patients with PMD ( n  = 102) and KCN ( n  = 202) and normal subjects ( n  = 208) using the ORA. Data, including full patient history as well as the results of refraction, slit-lamp biomicroscopy, Pentacam HR (Oculus), and ORA (Reichert; Buffalo, New York, USA), were collected from medical records...
March 2018: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/29555354/nonconvulsive-status-epilepticus-after-convulsive-status-epilepticus-clinical-features-outcomes-and-prognostic-factors
#17
Fang Yuan, Fang Yang, Wen Li, Xiai Yang, Qiong Gao, Lijie Bi, Yongli Jiang, Wen Jiang
OBJECTIVES: To investigate clinical characteristics and outcomes of nonconvulsive status epilepticus (NCSE) after convulsive status epilepticus (CSE) and determine risk factors for unfavorable outcomes. METHODS: We reviewed consecutive patients with NCSE after CSE over eight years in the neurological intensive care unit. Clinical presentations and the Salzburg EEG criteria for NCSE were used to identify patients with NCSE after CSE. Demographics, clinical features, and anti-epileptic treatment responses were collected and analyzed...
March 12, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29525315/inclusion-of-brown-midrib-dwarf-pearl-millet-silage-in-the-diet-of-lactating-dairy-cows
#18
M T Harper, A Melgar, J Oh, K Nedelkov, G Sanchez, G W Roth, A N Hristov
Brown midrib brachytic dwarf pearl millet (Pennisetum glaucum) forage harvested at the flag leaf visible stage and subsequently ensiled was investigated as a partial replacement of corn silage in the diet of high-producing dairy cows. Seventeen lactating Holstein cows were fed 2 diets in a crossover design experiment with 2 periods of 28 d each. Both diets had forage:concentrate ratios of 60:40. The control diet (CSD) was based on corn silage and alfalfa haylage, and in the treatment diet, 20% of the corn silage dry matter (corresponding to 10% of the dietary dry matter) was replaced with pearl millet silage (PMD)...
March 7, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29514672/the-origins-of-breast-cancer-associated-with-mammographic-density-a-testable-biological-hypothesis
#19
Norman Boyd, Hal Berman, Jie Zhu, Lisa J Martin, Martin J Yaffe, Sofia Chavez, Greg Stanisz, Greg Hislop, Anna M Chiarelli, Salomon Minkin, Andrew D Paterson
BACKGROUND: Our purpose is to develop a testable biological hypothesis to explain the known increased risk of breast cancer associated with extensive percent mammographic density (PMD), and to reconcile the apparent paradox that although PMD decreases with increasing age, breast cancer incidence increases. METHODS: We used the Moolgavkar model of carcinogenesis as a framework to examine the known biological properties of the breast tissue components associated with PMD that includes epithelium and stroma, in relation to the development of breast cancer...
March 7, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29495078/corticocortical-projections-to-area-1-in-squirrel-monkeys-saimiri-sciureus
#20
Christina M Cerkevich, Jon H Kaas
Cortical area 1 is a non-primary somatosensory area in the primate anterior parietal cortex that is critical to tactile discrimination. The corticocortical projections to area 1 in squirrel monkeys were determined by placing multiple injections of anatomical tracers into separate body part representations defined by multiunit microelectrode mapping in area 1. The pattern of labeled cells in the cortex indicated that area 1 has strong intrinsic connections within each body part representation and has inputs from somatotopically matched regions of areas 3b, 3a, 2 and 5...
March 1, 2018: European Journal of Neuroscience
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