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https://www.readbyqxmd.com/read/27890833/pulse-wave-analysis-after-treatment-of-abdominal-aortic-aneurysms-with-the-ovation-device
#1
Efstratios Georgakarakos, Christos Argyriou, George S Georgiadis, Miltos K Lazarides
BACKGROUND: Ovation Aortic Stent-Graft System is a new device for the endovascular treatment of Abdominal Aortic Aneurysms achieving fixation via a 35-mm long, rigid ancored suprarenal stent and sealing stent at the infrarenal level by a means of a polymer-filling pair of inflatable O-rings which cause narrowing of flow lumen and regional stenosis. Thus, concerns have been raised regarding hemodynamic consequences associated with this new desing . Our preliminary report showed no significant increase of aortic pulse wave velocity (aPWV) immediately after implantation of the Ovation in 3 patients...
November 24, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27853988/antenatal-manifestations-of-inborn-errors-of-metabolism-prenatal-imaging-findings
#2
Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban
Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#3
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27816186/-transition-process-from-paediatric-to-adult-care-in-patients-with-inborn-errors-of-metabolism-consensus-statement
#4
Jordi Pérez-López, Leticia Ceberio-Hualde, José Salvador García Morillo, Josep M Grau-Junyent, Álvaro Hermida Ameijeiras, Mónica López-Rodríguez, Montserrat Morales-Conejo, Juan José Nava Mateos, Luis José Aldámiz Echevarri Azuara, Jaume Campistol, M Luz Couce, María Teresa García-Silva, Luis González Gutiérrez-Solana, Mireia Del Toro
BACKGROUND AND OBJECTIVE: The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients' healthcare...
December 2, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#5
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27735016/iiem-spfret-improved-iem-spfret-method-for-robust-fret-measurement
#6
Jiang Zhang, Fangrui Lin, Liuying Chai, Lichun Wei, Tongsheng Chen
No abstract text is available yet for this article.
October 1, 2016: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/27703389/ineffective-esophageal-motility-and-the-vagus-current-challenges-and-future-prospects
#7
Ji-Hong Chen
Ineffective esophageal motility (IEM) is characterized by low to very low amplitude propulsive contractions in the distal esophagus, hence primarily affecting the smooth muscle part of the esophagus. IEM is often found in patients with dysphagia or heartburn and is commonly associated with gastroesophageal reflux disease. IEM is assumed to be associated with ineffective bolus transport; however, this can be verified using impedance measurements or evaluation of a barium coated marshmallow swallow. Furthermore, water swallows may not assess accurately the motor capabilities of the esophagus, since contraction amplitude is strongly determined by the size and consistency of the bolus...
2016: Clinical and Experimental Gastroenterology
https://www.readbyqxmd.com/read/27689836/blue-light-transmittance-of-esthetic-monolithic-cad-cam-materials-with-respect-to-their-composition-thickness-and-curing-conditions
#8
B Stawarczyk, D Awad, N Ilie
Determining the amount of blue light (360-540nm) passing through nine monolithic computer-aided design/computer-aided manufacturing (CAD/CAM) materials depends on material thickness, initial irradiance, and the distance between the curing unit and the specimen's surface. A total of 180 specimens of two thicknesses (1 mm and 2 mm, n=10/subgroup) were fabricated from TelioCAD, VITA CAD-Temp (VCT), experimental nanocomposite, LAVA Ultimate (LU), VITA ENAMIC (VE), VITA MarkII (VM), IPS EmpressCAD (IEC), IPS e.maxCAD (IEM), and CELTRA DUO (CD)...
September 2016: Operative Dentistry
https://www.readbyqxmd.com/read/27682710/co-existence-of-phenylketonuria-either-with-maple-syrup-urine-disease-or-sandhoff-disease-in-two-patients-from-iran-emphasizing-the-role-of-consanguinity
#9
Maryam Abiri, Saeed Talebi, Jouni Uitto, Leila Youssefian, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Sirous Zeinali
Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27676840/interests-of-therapeutic-education-for-motor-disabled-adolescents
#10
Julia Hamonet-Torny
OPINION/FEEDBACK: INTRODUCTION: The Motor Education Institute (IEM) of Couzeix set up in June 2015 workshops of therapeutic education, with the aim of helping adolescents to better understand their motor disabilities and to reinforce their motivation for the rehabilitation. METHOD: Between March and April 2015, the educational supports of this workshop entitled "understanding my motor disability" were elaborated in collaboration by the paramedical and the educative staffs, with the participation of volunteer teenagers...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27662232/haematopoietic-stem-cell-transplantation-in-inborn-errors-of-metabolism
#11
Robert Chiesa, Robert F Wynn, Paul Veys
PURPOSE OF REVIEW: This review summarizes the main results of haematopoietic stem cell transplantation (HSCT) in selected inborn errors of metabolism (IEMs). RECENT FINDINGS: Early diagnosis and immediate referral to an IEM specialist is of paramount importance to improve clinical outcome: patients who are transplanted early or in their presymptomatic phase generally achieve better correction of their somatic symptoms and neurocognitive development. Long-term outcome in children with Hurler syndrome is influenced by age at HSCT, baseline clinical status and post-HSCT enzyme levels...
November 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27649151/omics-based-strategies-in-precision-medicine-toward-a-paradigm-shift-in-inborn-errors-of-metabolism-investigations
#12
REVIEW
Abdellah Tebani, Carlos Afonso, Stéphane Marret, Soumeya Bekri
The rise of technologies that simultaneously measure thousands of data points represents the heart of systems biology. These technologies have had a huge impact on the discovery of next-generation diagnostics, biomarkers, and drugs in the precision medicine era. Systems biology aims to achieve systemic exploration of complex interactions in biological systems. Driven by high-throughput omics technologies and the computational surge, it enables multi-scale and insightful overviews of cells, organisms, and populations...
September 14, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27631978/analysis-of-polymorphic-membrane-protein-expression-in-cultured-cells-identifies-pmpa-and-pmph-of-chlamydia-psittaci-as-candidate-factors-in-pathogenesis-and-immunity-to-infection
#13
Sarah Van Lent, Winnok H De Vos, Heather Huot Creasy, Patricia X Marques, Jacques Ravel, Daisy Vanrompay, Patrik Bavoil, Ru-Ching Hsia
The polymorphic membrane protein (Pmp) paralogous families of Chlamydia trachomatis, Chlamydia pneumoniae and Chlamydia abortus are putative targets for Chlamydia vaccine development. To determine whether this is also the case for Pmp family members of C. psittaci, we analyzed transcription levels, protein production and localization of several Pmps of C. psittaci. Pmp expression profiles were characterized using quantitative real-time PCR (RT-qPCR), immunofluorescence (IF) and immuno-electron microscopy (IEM) under normal and stress conditions...
2016: PloS One
https://www.readbyqxmd.com/read/27629047/thirteen-year-retrospective-review-of-the-spectrum-of-inborn-errors-of-metabolism-presenting-in-a-tertiary-center-in-saudi-arabia
#14
Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. METHOD: We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27622308/inverted-erythrocyte-membranes-demonstrate-%C3%AE-2gpi-antiphospholipid-antibody-interactions-and-membrane-crosslinking
#15
Saartje Bloemen, Xiao Xuan Wu, Katrien M Devreese, Bas de Laat, Jacob H Rand, Ljiljana V Vasovic
INTRODUCTION: The antiphospholipid syndrome (APS) is an acquired autoimmune disorder predisposing patients to thrombosis or pregnancy complications. Since inverted erythrocyte membranes (iEMs) might provide a physiologically relevant source of anionic phospholipids, we studied the interactions of phospholipid-binding proteins and APS antibodies using iEMs. MATERIALS & METHODS: iEMs were prepared from packed erythrocytes by hypotonic lysis. Phosphatidylserine (PS) exposure was confirmed by annexin A5 (A5) binding using fluorescence microscopy and flow cytometry...
October 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27599539/esophageal-body-motility-for-clinical-assessment-in-patients-with-refractory-gastroesophageal-reflux-symptoms
#16
Liuqin Jiang, Bixing Ye, Ying Wang, Meifeng Wang, Lin Lin
Background/Aims: Little data exists about esophageal body dysmotility and reflux patterns in refractory gastroesophageal reflux disease (RGERD) patients off therapy. We aimed to evaluate effects of esophageal body dysmotility on reflux parameters in RGERD patients by combining impedance-pH monitoring and high-resolution manometry (HRM). Methods: We retrospectively reviewed the impedance-pH data and HRM metrics in patients with refractory gastroesophageal reflux symptoms...
September 6, 2016: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/27594392/influence-of-a-high-intensity-interval-training-session-on-peripheral-and-central-blood-pressure-at-rest-and-during-stress-testing-in-healthy-individuals
#17
Sascha Ketelhut, Florian Milatz, Walter Heise, Reinhard G Ketelhut
BACKGROUND: Regular physical activity is known to reduce arterial pressure (BP). In a previous investigation, we could prove that even a single bout of moderate-intensity continuous exercise (MICE) causes a prolonged reduction in BP. Whether high-intensity interval training (HIIT) has a favourable influence on BP, and therefore may be followed subjects and methods by a prolonged BP reduction, should be examined on the basis of blood pressure response after exercise and during a subsequent stress test...
September 2016: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/27593158/development-and-approval-of-live-attenuated-influenza-vaccines-based-on-russian-master-donor-viruses-process-challenges-and-success-stories
#18
Larisa Rudenko, Leena Yeolekar, Irina Kiseleva, Irina Isakova-Sivak
Influenza is a viral infection that affects much of the global population each year. Vaccination remains the most effective tool for preventing the disease. Live attenuated influenza vaccine (LAIV) has been used since the 1950s to protect humans against seasonal influenza. LAIVs developed by the Institute of Experimental Medicine (IEM), Saint Petersburg, Russia, have been successfully used in Russia since 1987. In 2006, the World Health Organization (WHO) announced a Global action plan for influenza vaccines (GAP)...
October 26, 2016: Vaccine
https://www.readbyqxmd.com/read/27563354/a-web-based-interactive-tool-to-improve-breast-cancer-patient-centredness
#19
Alessandra Gorini, Ketti Mazzocco, Haridimos Kondylakis, Gordon McVie, Gabriella Pravettoni
The uniqueness of a patient as determined by the integration of clinical data and psychological aspects should be the aspired aim of a personalized medicine approach. Nevertheless, given the time constraints usually imposed by the clinical setting, it is not easy for physicians to collect information about the patient's unique mental dimensions and needs related to her illness. Such information may be useful in tailoring patient-physician communication, improving the patient's understanding of provided information, her involvement in the treatment process, and in general her empowerment during and after the therapeutic journey...
2016: Ecancermedicalscience
https://www.readbyqxmd.com/read/27562603/quantifying-antiepileptic-drug-effects-using-intrinsic-excitability-measures
#20
Christian Meisel, Dietmar Plenz, Andreas Schulze-Bonhage, Heinz Reichmann
Pathologic increases in excitability levels of cortical tissue commonly underlie the initiation and spread of seizure activity in patients with epilepsy. By reducing the excitability levels in neural tissue, antiepileptic drug (AED) pharmacotherapy aims to reduce seizure severity and frequency. However, AEDs may also bring about adverse effects, which have been reported to increase with higher AED load. Measures that monitor the dose-dependent effects of AEDs on cortical tissue and quantify its excitability level are therefore of prime importance for efficient clinical care and treatment but have been difficult to identify...
November 2016: Epilepsia
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