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https://www.readbyqxmd.com/read/29329570/exophthalmos-in-a-young-woman-with-no-graves-disease-a-case-report-of-igg4-related-orbitopathy
#1
Annamaria Erdei, Zita Steiber, Csaba Molnar, Ervin Berenyi, Endre V Nagy
BACKGROUND: Immunoglobulin G4-related disease (IgG4-rd) is characterized by lymphoplasmacytic infiltration and tissue fibrosis. Orbital manifestations of IgG4-rd may include unilateral or bilateral proptosis, cicatricial extraocular muscle myopathy, orbital inflammation and pain which may mimic ophthalmic Graves' disease. CASE PRESENTATION: A 25-year-old woman has been referred to the endocrinology clinic, 4 months after delivery, with suspected Graves' orbitopathy...
January 12, 2018: BMC Ophthalmology
https://www.readbyqxmd.com/read/29312868/aortic-stiffness-is-increased-in-patients-with-hypereosinophilic-syndrome-being-in-early-necrotic-phase
#2
Attila Nemes, Imelda Marton, Péter Domsik, Anita Kalapos, Éva Pósfai, Szabolcs Modok, Zita Borbényi, Tamás Forster
Background: Persistent eosinophilia and eosinophil-mediated single- or multiple-organ damage are typical features of hypereosinophilic syndrome (HES). Theoretically, eosinophilic infiltration of the ascending aortic wall could not be excluded in HES, therefore the present study aimed to test whether HES is associated with abnormalities in aortic elastic properties. Methods: The present study comprised 10 HES patients (mean age: 57.6±10.1 years, 5 males) without known cardiovascular disease, their results were compared to 19 age-, gender- and risk factor-matched controls (59...
December 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/29306639/skin-tissue-engineering-using-3d-bioprinting-an-evolving-research-field
#3
REVIEW
Sam P Tarassoli, Zita M Jessop, Ayesha Al-Sabah, Neng Gao, Sairan Whitaker, Shareen Doak, Iain S Whitaker
BACKGROUND: Commercially available tissue engineered skin remains elusive despite extensive research because the multi-stratified anisotropic structure is difficult to replicate in vitro using traditional tissue engineering techniques. Bioprinting, involving computer-controlled deposition of cells and scaffolds into spatially controlled patterns, is able to control not only the macro but also micro and nanoarchitecture and could offer the potential to more faithfully replicate native skin...
December 13, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/29306106/quantitative-assessment-of-jak2-v617f-and-calr-mutations-in-philadelphia-negative-myeloproliferative-neoplasms
#4
Ambrus Gángó, Réka Mózes, Zsófia Boha, Béla Kajtár, Botond Timár, Péter Attila Király, Richárd Kiss, Viktória Fésüs, Noémi Nagy, Judit Demeter, Gábor Körösmezey, Zita Borbényi, Imelda Marton, Anita Szőke, Tamás Masszi, Péter Farkas, Judit Várkonyi, Márk Plander, Éva Pósfai, Miklós Egyed, Katalin Pál, Gáspár Radványi, Aryan Hamed, Judit Csomor, András Matolcsy, Donát Alpár, Csaba Bödör
BACKGROUND: Philadelphia negative myeloproliferative neoplasms (MPNs) are characterized by frequent mutations of driver genes including JAK2, CALR and MPL. While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation. PATIENTS AND METHODS: Quantitative assessment of JAK2 and CALR mutations was performed on diagnostic DNA samples from 425 essential thrombocythemia (ET) and 227 primary myelofibrosis patients using real-time quantitative PCR and fragment length analysis...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29238710/the-use-of-keystone-flaps-in-periarticular-wound-closure-a-case-series
#5
Thomas H Jovic, Zita M Jessop, Robert Slade, Thomas Dobbs, Iain S Whitaker
The Keystone perforator island flap (Keystone flap), is a Type A fasciocutaneous advancement flap, consisting of two V to Y advancement flaps. Skin cancer excision around joints presents a number of reconstructive challenges. Owing to the mobile nature of joints, the optimal periarticular reconstructive option should possess the ability to provide adequate tissue coverage and withstand regional changes in tensile pressures. We report a single-surgeon series of five cases of periarticular keystone flap between 2014 and 2017...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/29233648/left-atrial-dysfunction-in-light-chain-cardiac-amyloidosis-and-hypertrophic-cardiomyopathy-a-comparative-three-dimensional-speckle-tracking-echocardiographic-analysis-from-the-magyar-path-study
#6
Dóra Földeák, Árpád Kormányos, Péter Domsik, Anita Kalapos, Györgyike Á Piros, Nóra Ambrus, Zénó Ajtay, Róbert Sepp, Zita Borbényi, Tamás Forster, Attila Nemes
INTRODUCTION: While cardiac amyloidosis (CA) is a rare systemic disease characterized by extracellular deposition of protein-derived fibrils, hypertrophic cardiomyopathy (HCM) is histopathologically characterized by myocyte hypertrophy and disarray, interstitial fibrosis, and small intramural coronary arteriole dysplasia. The aim of the present study was to compare left atrial (LA) volumetric and functional characteristics between light-chain (AL) CA and HCM by three-dimensional (3D) speckle-tracking echocardiography (STE)...
December 9, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29228836/complete-mtdna-sequencing-reveals-mutations-m-9185t-c-and-m-13513g-a-in-three-patients-with-leigh-syndrome
#7
Dita Pelnena, Birute Burnyte, Eriks Jankevics, Baiba Lace, Evelina Dagyte, Kristina Grigalioniene, Algirdas Utkus, Zita Krumina, Jolanta Rozentale, Irina Adomaitiene, Janis Stavusis, Liana Pliss, Inna Inashkina
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a cohort of patients with suspected mitochondrial mutations. Patients from Latvia and Lithuania (n = 92 and n = 57, respectively) referred by clinical geneticists were included...
December 12, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29220397/desethylamiodarone-a-metabolite-of-amiodarone-induces-apoptosis-on-t24-human-bladder-cancer-cells-via-multiple-pathways
#8
Zita Bognar, Katalin Fekete, Csenge Antus, Eniko Hocsak, Rita Bognar, Antal Tapodi, Arpad Boronkai, Nelli Farkas, Ferenc Gallyas, Balazs Sumegi, Arpad Szanto
Bladder cancer (BC) is a common malignancy of the urinary tract that has a higher frequency in men than in women. Cytostatic resistance and metastasis formation are significant risk factors in BC therapy; therefore, there is great interest in overcoming drug resistance and in initiating research for novel chemotherapeutic approaches. Here, we suggest that desethylamiodarone (DEA)-a metabolite of amiodarone-may have cytostatic potential. DEA activates the collapse of mitochondrial membrane potential (detected by JC-1 fluorescence), and induces cell death in T24 human transitional-cell bladder carcinoma cell line at physiologically achievable concentrations...
2017: PloS One
https://www.readbyqxmd.com/read/29217260/ontogenesis-of-the-pinealo-retinal-neuronal-connection-in-albino-rats
#9
Ágnes Csáki, Viktória Vereczki, Ákos Lukáts, Zsolt Boldogkői, Anna Sebestyén, Zita Puskár, Katalin Köves
It was accepted for a long time that in mammals there is only retinofugal neuronal connection between the eye and the pineal body (PB). In our previous paper we described that nerve cells were present in hamster PB and these neurons could establish a reverse connection with the retina through a transsynaptic pathway. In adult albino rats neuronal perikarya were not found. In this present experiment it was examined whether the lack of these nerve cells in the PB of adult rats is the result of an apoptotic phenomenon or the lack of migration during the fetal period...
December 4, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29208530/analytical-performances-of-simultaneous-detection-of-hiv-1-hiv-2-and-hepatitis-c-specific-antibodies-and-hepatitis-b-surface-antigen-hbsag-by-multiplex-immunochromatographic-rapid-test-with-serum-samples-a-cross-sectional-study
#10
Leman Robin, Ralph-Sydney Mboumba Bouassa, Zita Aleyo Nodjikouambaye, Laura Charmant, Mathieu Matta, Sylvie Simon, Mounir Filali, Souleymane Mboup, Laurent Bélec
BACKGROUND: The HIV/HCV/HBsAg Triplex consists in manually performed, visually interpreted, lateral flow, immunochromatographic rapid diagnostic test simultaneously detecting in 15min human immunodeficiency virus (HIV)-1 and HIV-2 and hepatitis C virus (HCV)- specific antibodies (Ab) (IgG and IgM) and hepatitis B virus (HBV) surface antigen (HBsAg) in serum, plasma and whole blood. METHODS: A hospital-based cross-sectional study was conducted on a prospective panel of serum samples from adult inpatients included from routine analysis irrespectively of age and sex, including 250 sera positive for HIV-1-specific Ab, 250 for HCV-specific Ab, 250 for HBsAg and 250 sera negative for HIV- and HCV- Ab and HBsAg, and from 110 HIV-2-infected patients living in Ivory Coast, according to the results obtained by the reference chemiluminiscent microparticle immunoassay (CMIA) Abbott Architect i2000SR analyzer (Abbott Diagnostic, Chicago, IL, USA)...
December 5, 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#11
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29183136/-laparoscopic-cecal-wedge-resection
#12
Iván Karaffa, Zoltán Barra, Tamás Balog, Zita Farkas, János Bezsilla
INTRODUCTION: Several indications of cecal wedge resection can be found in the literature, but the most common ones are acute appendicitis, appendiceal mucocele and selected cecal polyps. PURPOSE: We summarize the indications, review the results of laparoscopic cecal wedge resections carried out in our department from 01.01.2010 till 31.12.2016. A case report is presented when cecal resection was carried out for a cecal polyp. PATIENTS: Between 01...
December 2017: Magyar Sebészet
https://www.readbyqxmd.com/read/29154021/diagnosis-of-fanconi-anaemia-by-ionising-radiation-or-mitomycin-c-induced-micronuclei
#13
Flavia Zita Francies, Rosalind Wainwright, Janet Poole, Kim De Leeneer, Ilse Coene, Greet Wieme, Hélène A Poirel, Bénédicte Brichard, Stephanie Vermeulen, Anne Vral, Jacobus Slabbert, Kathleen Claes, Ans Baeyens
Fanconi Anaemia (FA) is an autosomal recessive disorder characterised by defects in DNA repair, associated with chromosomal instability and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (MMC). The FA repair pathway involves complex DNA repair mechanisms crucial for genomic stability. Deficiencies in DNA repair genes give rise to chromosomal radiosensitivity. FA patients have shown increased clinical radiosensitivity by exhibiting adverse normal tissue side-effects. The study aimed to investigate chromosomal radiosensitivity of homozygous and heterozygous carriers of FA mutations using three micronucleus (MN) assays...
November 8, 2017: DNA Repair
https://www.readbyqxmd.com/read/29151690/region-dependent-effects-of-diabetes-and-insulin-replacement-on-neuronal-nitric-oxide-synthase-and-heme-oxygenase-immunoreactive-submucous-neurons
#14
Nikolett Bódi, Zita Szalai, Lalitha Chandrakumar, Mária Bagyánszki
AIM: To investigate the intestinal segment-specific effects of diabetes and insulin replacement on the density of different subpopulations of submucous neurons. METHODS: Ten weeks after the onset of type 1 diabetes samples were taken from the duodenum, ileum and colon of streptozotocin-induce diabetic, insulin-treated diabetic and sex- and age-matched control rats. Whole-mount preparations of submucous plexus were prepared from the different gut segments for quantitative fluorescent immunohistochemistry...
November 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29135289/-what-should-we-know-about-cardiac-amyloidosis-from-clinical-signs-to-treatment
#15
Dóra Földeák, Attila Nemes, Anita Kalapos, Péter Domsik, Árpád Kormányos, László Krenács, Enikő Bagdi, Zita Borbényi
Systemic amyloidosis is a rare disease, in which the heart involvement is rather frequent and determines survival remarkably. Regarding the disease and organ involvement, new diagnostic procedures help to establish the diagnosis and to start the adequate treatment as soon as possible. Cardiac involvement is more likely to be characterised by monoclonal immunglobulin free light chain (AL amyloidosis) type and transthyretin type. In case of AL amyloidosis, heart involvement can lead to serious consequences. Biomarker assessments for cardiac function are important to determine disease severity at the beginning and to measure response to the treatment...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29097942/the-effect-of-diagnostic-imaging-on-surgical-treatment-planning-in-diseases-of-the-thymus
#16
REVIEW
Aurel Ottlakan, Bernadett Borda, Zita Morvay, Aniko Maraz, Jozsef Furak
Accurate imaging of the thymus is essential in the diagnosis and surgical treatment of both neoplastic and nonneoplastic conditions. Imaging of the thymus is a rather complex task, which affects both initial diagnosis and further surgical treatment planning. Imaging techniques include a wide armamentary of possibilities, from the most frequently used computed tomography (CT) to 18-fluorodeoxyglucose positron emission tomography- (18-FDG-PET-) CT and chemical shift magnetic resonance imaging (CS-MRI). In cases where surgical treatment is involved diagnostic imaging is of pivotal importance, not only in distinguishing benign from malignant disease but also in making a way among subtypes of thymic conditions...
2017: Contrast Media & Molecular Imaging
https://www.readbyqxmd.com/read/29092115/cardiac-amyloidosis-associated-with-enlargement-and-functional-impairment-of-the-mitral-annulus-insights-from-the-three-dimensional-speckle-tracking-echocardiographic-magyar-path-study
#17
Attila Nemes, Dóra Földeák, Árpád Kormányos, Péter Domsik, Anita Kalapos, Zita Borbényi, Tamás Forster
BACKGROUND: Cardiac amyloidosis (CA) is a rare condition characterized by the extracellular deposition of amyloidogenic proteins in the heart. The aim of the present study was to compare the size and function of the mitral annulus (MA) between CA patients and age- and gender-matched controls, using three-dimensional speckle-tracking echocardiography (3-D STE). METHODS: The study included 17 patients (mean age 64.2 ± 9.8 years) with CA, whose results were compared to 26 age- and gender-matched healthy controls (mean age 59...
May 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29081883/diabetes-related-induction-of-the-heme-oxygenase-system-and-enhanced-colocalization-of-heme-oxygenase-1-and-2-with-neuronal-nitric-oxide-synthase-in-myenteric-neurons-of-different-intestinal-segments
#18
Lalitha Chandrakumar, Mária Bagyánszki, Zita Szalai, Diána Mezei, Nikolett Bódi
Increase in hyperglycaemia-induced oxidative stress and decreased effectiveness of endogenous defense mechanisms plays an essential role in the initiation of diabetes-related neuropathy. We demonstrated that nitrergic myenteric neurons display different susceptibilities to diabetic damage in different gut segments. Therefore, we aim to reveal the gut segment-specific differences in the expression of heme oxygenase (HO) isoforms and the colocalization of these antioxidants with neuronal nitric oxide synthase (nNOS) in myenteric neurons...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29077265/chemical-approach-to-biological-safety-molecular-level-control-of-an-integrated-zinc-finger-nuclease
#19
Eszter Németh, Masamitsu Asaka, Kohsuke Kato, Zita Fabian, Chris Oostenbrink, Hans Christensen, Kyosuke Nagata, Bela Gyurcsik
Application of artificial nucleases (ANs) in genome editing is still hindered by their cytotoxicity, related to off-target cleavages. This problem could be targeted by the regulation of the nuclease domain. Here we provide the experimental survey of computationally designed integrated zinc finger nucleases, constructed by linking the inactivated catalytic centre and the allosteric activator sequence of the colicin E7 nuclease domain to the two opposite termini of a zinc finger array. DNA-specificity and metal binding were confirmed by electrophoretic mobility shift assays, synchrotron radiation circular dichroism spectroscopy and nano-electrospray ionization mass spectrometry...
October 27, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29073650/the-cognitive-map-in-humans-spatial-navigation-and-beyond
#20
REVIEW
Russell A Epstein, Eva Zita Patai, Joshua B Julian, Hugo J Spiers
The 'cognitive map' hypothesis proposes that brain builds a unified representation of the spatial environment to support memory and guide future action. Forty years of electrophysiological research in rodents suggest that cognitive maps are neurally instantiated by place, grid, border and head direction cells in the hippocampal formation and related structures. Here we review recent work that suggests a similar functional organization in the human brain and yields insights into how cognitive maps are used during spatial navigation...
October 26, 2017: Nature Neuroscience
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