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https://www.readbyqxmd.com/read/28695364/revisiting-mitochondrial-ocular-myopathies-a-study-from-the-italian-network
#1
D Orsucci, C Angelini, E Bertini, V Carelli, G P Comi, A Federico, C Minetti, M Moggio, T Mongini, F M Santorelli, S Servidei, P Tonin, A Ardissone, L Bello, C Bruno, E Caldarazzo Ienco, D Diodato, M Filosto, C Lamperti, I Moroni, O Musumeci, E Pegoraro, G Primiano, D Ronchi, A Rubegni, S Salvatore, M Sciacco, M L Valentino, L Vercelli, A Toscano, M Zeviani, G Siciliano, M Mancuso
Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases". We distinguished patients with ocular myopathy as part of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy), and then PEO with isolated ocular myopathy from PEO-plus when PEO was associated with additional features of multisystemic involvement...
July 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28607896/a-survey-of-work-related-musculoskeletal-disorders-among-otolaryngologists
#2
Twinkle Dabholkar, Sujata Yardi, Yogesh G Dabholkar, Haritosh K Velankar, Gaurav Ghuge
There are increased reports of prevalence of work-related musculoskeletal disorders (WRMSDs) in surgeons performing minimal access surgeries. Due to the nature of the speciality, otolaryngologists spend their work days in performing markedly precise procedures in small workspaces i.e. the patients' ear, nose and throat. Due to this, they frequently adopt awkward neck, back and shoulder postures while using devices like otoscope, endoscope and microscope. The field of otolaryngology has barely received any attention with respect to ergonomic assessment...
June 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28559431/dna-polymerase-beta-participates-in-mitochondrial-dna-repair
#3
P Sykora, S Kanno, M Akbari, T Kulikowicz, B A Baptiste, G S Leandro, H Lu, J Tian, A May, K A Becker, D L Croteau, D M Wilson, R W Sobol, A Yasui, V A Bohr
We have detected DNA polymerase beta (Polβ), known as a key nuclear base excision repair (BER) protein, in mitochondrial protein extracts derived from mammalian tissue and cells. Manipulation of the N-terminal sequence affected the amount of Polβ in the mitochondria. Using Polβ fragments, mitochondrial-specific protein partners were identified, with the interactors mainly functioning in DNA maintenance and mitochondrial import. Of particular interest was the identification of the proteins TWINKLE, SSBP1 and TFAM, all of which are mitochondria specific DNA effectors and are known to function in the nucleoid...
May 30, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28542237/a-new-genus-of-leafhopper-subtribe-paraboloponina-hemiptera-cicadellidae-with-molecular-phylogeny-of-related-genera
#4
Naresh M Meshram, Pathour R Shashank, Twinkle Sinha
A new leafhopper genus Chandra and species Chandra dehradunensis gen. nov., sp. nov. are described, illustrated from India and placed in the subtribe Paraboloponina (Cidadellidae: Deltocephalinae: Drabescini). This genus is closely associated with the genus Parabolopona Webb but differs in shape of the head, placement of antennae, male genitalia and molecular analysis using Histone H3 and COI genes confirmed the difference. The taxonomic and phylogenetic position of Chandra is discussed using morphological characters and preliminary molecular evidence of the new genus and related genus Parabolopona...
2017: PloS One
https://www.readbyqxmd.com/read/28461998/detection-of-early-dj-stent-encrustation-by-sonographic-twinkling-artifacts-a-pilot-study
#5
Roman A Blaheta, Anton Oertl, Hans-Joachim Freisleben, Karen Nelson, Hanns Ackermann, Axel Haferkamp, Tobias Engl
INTRODUCTION: Ureter obstruction caused by a retro-peritoneal tumor is treated by inserting an indwelling ureter splint (DJ-stent). Indwelling duration is limited by cumulative crystalline deposits into the splint, eventually causing the repeated impairment of urine flow. Deciding when a DJ-stent must be replaced is important since belated removal can be accompanied by severe complications. X-ray or conventional sonography do not allow satisfactory evaluation of early incrustation, therefore, the use of sonographic twinkling artifacts (TA) to provide accurate stent surveillance was investigated...
2017: Central European Journal of Urology
https://www.readbyqxmd.com/read/28454724/protein-phosphatase-1%C3%AE-enhances-renal-aldosterone-signaling-via-mineralocorticoid-receptor-stabilization
#6
Shunmugam Nagarajan, Twinkle Vohra, Johannes Loffing, Nourdine Faresse
Stimulation of the mineralocorticoid receptor (MR) by aldosterone controls several physiological parameters including blood pressure, inflammation or metabolism. We previously showed that MR turnover constitutes a crucial regulatory step in the responses of renal epithelial cells to aldosterone. Here, we identified Protein Phosphatase 1 alpha (PP1α), as a novel cytoplasmic binding partner of MR that promotes the receptor activity. The RT-PCR expression mapping of PP1α reveals a high expression in the kidney, particularly in the distal part of the nephron...
April 25, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28377575/the-role-of-lon-mediated-proteolysis-in-the-dynamics-of-mitochondrial-nucleic-acid-protein-complexes
#7
Nina Kunová, Gabriela Ondrovičová, Jacob A Bauer, Jana Bellová, Ľuboš Ambro, Lucia Martináková, Veronika Kotrasová, Eva Kutejová, Vladimír Pevala
Mitochondrial nucleoids consist of several different groups of proteins, many of which are involved in essential cellular processes such as the replication, repair and transcription of the mitochondrial genome. The eukaryotic, ATP-dependent protease Lon is found within the central nucleoid region, though little is presently known about its role there. Aside from its association with mitochondrial nucleoids, human Lon also specifically interacts with RNA. Recently, Lon was shown to regulate TFAM, the most abundant mtDNA structural factor in human mitochondria...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28281476/objective-ergonomic-risk-assessment-of-wrist-and-spine-with-motion-analysis-technique-during-simulated-laparoscopic-cholecystectomy-in-experienced-and-novice-surgeons
#8
Twinkle Yogesh Dabholkar, Sujata Sudhir Yardi, Sanjay Narahari Oak, Sneha Ramchandani
INTRODUCTION: There is a rise in prevalence of work-related musculoskeletal disorders in surgeons performing laparoscopic surgeries due to lack of ergonomic considerations to the minimal access surgical environment. The objective of this study was to assess the physical ergonomics in experienced and novice surgeons during a simulated laparoscopic cholecystectomy. METHODOLOGY: Thirty-two surgeons participated in this study and were distributed in two groups (experienced and novices) based on the inclusion criteria...
April 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28190622/effect-of-carbon-dioxide-on-the-twinkling-artifact-in-ultrasound-imaging-of-kidney-stones-a-pilot-study
#9
Julianna C Simon, Yak-Nam Wang, Bryan W Cunitz, Jeffrey Thiel, Frank Starr, Ziyue Liu, Michael R Bailey
Bone demineralization, dehydration and stasis put astronauts at increased risk of forming kidney stones in space. The color-Doppler ultrasound "twinkling artifact," which highlights kidney stones with color, can make stones readily detectable with ultrasound; however, our previous results suggest twinkling is caused by microbubbles on the stone surface which could be affected by the elevated levels of carbon dioxide found on space vehicles. Four pigs were implanted with kidney stones and imaged with ultrasound while the anesthetic carrier gas oscillated between oxygen and air containing 0...
May 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28178980/novel-neuro-audiological-findings-and-further-evidence-for-twnk-involvement-in-perrault-syndrome
#10
Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński
BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients. METHODS: We report on two siblings with a clinical picture resembling a severe, neurological type of PRLTS...
February 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28167365/nitrogen-doped-graphene-quantum-dots-based-long-persistent-chemiluminescence-system-for-ascorbic-acid-imaging
#11
Hongjun Chen, Qin Wang, Qinpeng Shen, Xin Liu, Wang Li, Zhou Nie, Shouzhuo Yao
High photo-intensity and sluggish flight attenuation are important to highly sensitive chemluminescence imaging. Herein, we present a copper ion catalyzed long-persistent chemiluminescent imaging system of nitrogen-doped graphene quantum dots (NGQDs) for ascorbic acid detection in fruit. NGQDs as luminescent probe are fabricated, emitting out chemluminescence with the direct oxidation by H2O2. In addition, Cu(2+) ion enlarges over two order magnitudes of NGQDs CL intensity (214 times) due to its catalyzed Fenton-like reaction for H2O2 decomposition, and displaying unique specificity against other metal ions...
May 15, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28042097/parkin-deficiency-accelerates-consequences-of-mitochondrial-dna-deletions-and-parkinsonism
#12
Lanying Song, Marissa McMackin, Andy Nguyen, Gino Cortopassi
Parkinson's disease (PD) is a neurodegenerative condition caused by age-related death of dopaminergic (DA) neurons in the substantia nigra (SN). Mitochondrial DNA (mtDNA) deletions rise exponentially with age in humans and reach their highest levels approaching 60% in dopaminergic neurons of the substantia nigra and overlap with dying neurons. Parkin deletion causes Parkinsonism in humans, presumably through a decrease in mitochondrial quality control, but Parkin knockout mice do not have DA neurodegeneration...
December 29, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28039937/quantitative-evaluation-of-the-effects-of-urinary-stone-composition-and-size-on-color-doppler-twinkling-artifact-a-phantom-study
#13
Mengmeng Shang, Xiao Sun, Qing Liu, Jie Li, Dandan Shi, Song Ning, Lin Cheng
OBJECTIVES: The present study was conducted to quantitatively evaluate the influence of urinary stone composition and size on color Doppler twinkling artifact. METHODS: Calcium oxalate monohydrate (COM), apatite, L-cystine, and uric acid (UA) stone phantoms with 10 different sizes were prepared artificially and embedded in the renal sinus of porcine kidneys in vitro. Color Doppler ultrasound scanning was performed on the phantoms and TA pictures were recorded. The length of the twinkling artifact (TAL) and width of twinkling artifact (TAW) were measured...
December 31, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28030582/therapeutic-targeting-of-the-mitochondria-initiates-excessive-superoxide-production-and-mitochondrial-depolarization-causing-decreased-mtdna-integrity
#14
Kaytee L Pokrzywinski, Thomas G Biel, Dmitry Kryndushkin, V Ashutosh Rao
Mitochondrial dysregulation is closely associated with excessive reactive oxygen species (ROS) production. Altered redox homeostasis has been implicated in the onset of several diseases including cancer. Mitochondrial DNA (mtDNA) and proteins are particularly sensitive to ROS as they are in close proximity to the respiratory chain (RC). Mitoquinone (MitoQ), a mitochondria-targeted redox agent, selectively damages breast cancer cells possibly through damage induced via enhanced ROS production. However, the effects of MitoQ and other triphenylphosphonium (TPP+) conjugated agents on cancer mitochondrial homeostasis remain unknown...
2016: PloS One
https://www.readbyqxmd.com/read/28029769/light-harvesting-and-amplified-energy-transfer-in-conjugated-polymer-nanoparticles
#15
REVIEW
Yifei Jiang, Jason McNeill
Conjugated polymer nanoparticles are a class of nanoparticles with many useful and interesting properties, including very high fluorescence brightness, excellent photostability, and sensing capabilities. They also exhibit interesting and potentially useful phenomena, such as highly efficient energy transfer, anomalous single particle blinking, and twinkling phenomena associated with polaron motion. As little as one dye molecule per nanoparticle can efficiently quench the fluorescence of hundreds of polymer chromophore units...
January 25, 2017: Chemical Reviews
https://www.readbyqxmd.com/read/28000651/objective-ergonomic-risk-assessment-of-wrist-and-spine-with-motion-analysis-technique-during-simulated-laparoscopic-cholecystectomy-in-experienced-and-novice-surgeons
#16
Twinkle Yogesh Dabholkar, Sujata Sudhir Yardi, Sanjay Narahari Oak, Sneha Ramchandani
INTRODUCTION: There is a rise in prevalence of work-related musculoskeletal disorders in surgeons performing laparoscopic surgeries due to lack of ergonomic considerations to the minimal access surgical environment. The objective of this study was to assess the physical ergonomics in experienced and novice surgeons during a simulated laparoscopic cholecystectomy. METHODOLOGY: Thirty-two surgeons participated in this study and were distributed in two groups (experienced and novices) based on the inclusion criteria...
December 21, 2016: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/27930563/combining-ultrasonography-and-noncontrast-helical-computerized-tomography-to-evaluate-holmium-laser-lithotripsy
#17
Jia Mi, Jie Li, Qinglu Zhang, Xing Wang, Hongyu Liu, Yanlu Cao, Xiaoyan Liu, Xiao Sun, Mengmeng Shang, Qing Liu
The purpose of the study was to establish a mathematical model for correlating the combination of ultrasonography and noncontrast helical computerized tomography (NCHCT) with the total energy of Holmium laser lithotripsy.In this study, from March 2013 to February 2014, 180 patients with single urinary calculus were examined using ultrasonography and NCHCT before Holmium laser lithotripsy. The calculus location and size, acoustic shadowing (AS) level, twinkling artifact intensity (TAI), and CT value were all documented...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27906631/mitochondrial-purine-and-pyrimidine-metabolism-and-beyond
#18
REVIEW
Liya Wang
Carefully balanced deoxynucleoside triphosphate (dNTP) pools are essential for both nuclear and mitochondrial genome replication and repair. Two synthetic pathways operate in cells to produce dNTPs, e.g., the de novo and the salvage pathways. The key regulatory enzymes for de novo synthesis are ribonucleotide reductase (RNR) and thymidylate synthase (TS), and this process is considered to be cytosolic. The salvage pathway operates both in the cytosol (TK1 and dCK) and the mitochondria (TK2 and dGK). Mitochondrial dNTP pools are separated from the cytosolic ones owing to the double membrane structure of the mitochondria, and are formed by the salvage enzymes TK2 and dGK together with NMPKs and NDPK in postmitotic tissues, while in proliferating cells the mitochondrial dNTPs are mainly imported from the cytosol produced by the cytosolic pathways...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27867407/twinkle-artefact-in-the-ultrasound-diagnosis-of-superficial-epidermoid-cysts
#19
Richard Clarke, Priya Suresh, Rose Thomas, Simon Freeman
AIM: The aim of the study was to evaluate whether the twinkle artefact is a valuable feature in the sonographic diagnosis of superficial epidermoid cysts. MATERIALS AND METHODS: A retrospective search was undertaken of our institution's Radiology Information System and pathology database to identify cases of superficial masses showing the twinkle artefact that proceeded to surgical excision. RESULTS: Eighteen superficial masses demonstrating the twinkle artefact were identified that were submitted for pathological analysis...
August 2016: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/27846700/droplet-like-heterogeneity-of-aqueous-tetrahydrofuran-solutions-at-the-submicrometer-scale
#20
N F Bunkin, A V Shkirin, G A Lyakhov, A V Kobelev, N V Penkov, S V Ugraitskaya, E E Fesenko
A droplet formation in aqueous solutions of tetrahydrofuran (THF) has been experimentally detected at the submicrometer scale using two independent laser diagnostic techniques (dynamic light scattering and laser phase microscopy) and described in terms of THF-water intermolecular hydrogen bonding. It is shown that the nanodroplets have a mean size of 300 nm, their refractive index is higher than that of the ambient liquid, and they are highly enriched with THF molecules. The maximum of light scattering intensity falls within the THF concentration range 2-8 mol...
November 14, 2016: Journal of Chemical Physics
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