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https://www.readbyqxmd.com/read/28621425/epigenetic-mechanism-of-fmr1-inactivation-in-fragile-x-syndrome
#1
Merav Hecht, Amalia Tabib, Tamar Kahan, Shari Orlanski, Michal Gropp, Yuval Tabach, Ofra Yanuka, Nissim Benvenisty, Ilana Keshet, Howard Cedar
Fragile X syndrome is the most frequent cause of inherited intellectual disability. The primary molecular defect in this disease is the expansion of a CGG repeat in the 5' region of the fragile X mental retardation1 (FMR1) gene, leading to de novo methylation of the promoter and inactivation of this otherwise normal gene, but little is known about how these epigenetic changes occur during development. In order to gain insight into the nature of this process, we have used cell fusion technology to recapitulate the events that occur during early embryogenesis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28595505/wound-complications-after-common-femoral-vein-endophlebectomy-influence-on-outcome
#2
Alexander Gombert, Mohammad E Barbati, Jochen Grommes, Ralph Lm Kurstjens, Mark Af deWolf, Cees Ha Wittens, Houman Jalaie
Introduction Venous recanalization of obstructed femoral and iliac veins is associated with good results regarding the feasibility and patency rate. If the common femoral vein with its inflow vessels is involved, open surgical desobliteration or endophlebectomy has been described as a crucial part of the intervention. However, when performing the hybrid procedure, a number of specific complications have been described. We present our results after venous recanalization including an endophlebectomy, focussing on wound complications and its impact on outcome...
January 1, 2017: Phlebology
https://www.readbyqxmd.com/read/28540007/anterior-chamber-depth-change-following-cataract-surgery-in-pseudoexfoliation-syndrome-a-preliminary-study
#3
Mohammad Reza Fallah Tafti, Hossein Abdollah Beiki, S Farzad Mohammadi, Golshan Latifi, Elham Ashrafi, Zahra Fallah Tafti
PURPOSE: To assess the pseudophakic anterior chamber depth (PP-ACD) or effective lens position (ELP) change after cataract surgery in patients with pseudoexfoliation syndrome (PEX). METHODS: Consecutive eyes with PEX and cataract underwent standard phacoemulsification and were implanted with single-piece acrylic posterior chamber intraocular lenses (IOLs). Eyes with severe PEX and with axial length (AL) greater than 24 mm or less than 22 mm were not included. Eyes with capsular complication or unstable bags that needed capsular tension ring insertion were excluded...
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28507961/total-hip-arthroplasty-indicated-for-a-tuberculous-coxitis-complicating-a-controlled-acquired-imunodefficiency-syndrom-condition-a-preliminary-report-concerning-a-case
#4
Handy Eone Daniel, Jean Emile Bayiha, Théophyle Chunteng Nana, Olivier Kennedy Muluem, Jean Bahebeck
INTRODUCTION: Total hip arthroplasty (THA) remains controversial in active tuberculosis (TB) infection because of the risks of septic loosening and reactivation of the infection. We present a rare case of THA in a patient positive for the human immunodeficiency virus (HIV) with active tuberculous coxitis. The aim of this work is to share our experience and our preliminary results. CASE REPORT: The patient was a 53-year-old Black African woman, positive for the HIV, who was operated for implantation of a THA via the Hardinge approach indicated for a severe painful hip with restriction of joint movement and limp...
November 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28489466/intrathecal-injection-of-gadobutrol-a-tale-of-caution
#5
Corey Reeves, Enrique Galang, Raj Padalia, Nam Tran, Devang Padalia
In the field of interventional pain medicine a radiocontrast agent is commonly used in conjunction with fluoroscopy. Limited work has been published regarding the use of gadolium based contrast agents (GBCA) in the intrathecal space. We report a case of an intrathecal gadobutrol injection resulting in neurotoxic manifestations.A 60-year-old female with a history significant for lumbar post-laminectomy syndrome and intrathecal drug delivery implantation was admitted for lumbar fusion and kyphoplasty. Postoperatively, the patient had escalating pain medication requirements...
May 10, 2017: Journal of Pain & Palliative Care Pharmacotherapy
https://www.readbyqxmd.com/read/28477435/sacral-nerve-stimulation-can-be-an-effective-treatment-for-low-anterior-resection-syndrome
#6
Saleh M Eftaiha, Banujan Balachandran, Slawomir J Marecik, Anders Mellgren, Johan Nordenstam, George Melich, Leela M Prasad, John J Park
AIM: Sacral nerve stimulation has become a preferred method for the treatment of faecal incontinence in patients who fail conservative (non-operative) therapy. In previous small studies, sacral nerve stimulation has demonstrated improvement of faecal incontinence and quality of life in a majority of patients with low anterior resection syndrome. We evaluated the efficacy of sacral nerve stimulation in the treatment of low anterior resection syndrome, using a recently developed and validated low anterior resection syndrome instrument to quantify symptoms...
May 6, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28438304/thirty-day-outcomes-after-unrestricted-implantation-of-bioresorbable-vascular-scaffold-from-the-prospective-rai-registry
#7
Bernardo Cortese, Alfonso Ielasi, Elisabetta Moscarella, Bruno Loi, Giuseppe Tarantini, Francesco Pisano, Alessandro Durante, Giampaolo Pasquetto, Alessandro Colombo, Gabriele Tumminello, Luciano Moretti, Paolo Calabrò, Pietro Mazzarotto, Attilio Varricchio, Maurizio Tespili, Roberto A Latini, Gianfranco Defilippi, Donatella Corrado, Giuseppe Steffenino
The Absorb biovascular scaffold (BVS) is a bioresorbable, everolimus-eluting scaffold whose data on real-world patients with complex lesions are limited. Short-term follow-up from recent studies point to a higher rate of 30-day thrombosis than observed with drug-eluting stents. We aimed to understand the short-term safety and efficacy of BVS. Registro Absorb Italiano (RAI, ClinicalTrials.gov:NCT02298413) is an Italian, prospective, multicenter registry not funded, whose aim is to investigate BVS performance through a 5-year follow-up of all consecutive patients who have undergone successful implantation of ≥1 BVS in different clinical/lesion subsets...
March 29, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28431056/long-term-outcome-of-transvenous-pacemaker-implantation-in-infants-a-retrospective-cohort-study
#8
Laura M Vos, Janneke A E Kammeraad, Matthias W Freund, Andreas C Blank, Johannes M P J Breur
Aim: Evaluation of long-term outcome of transvenous pacemaker (PM) implantation in infants. Methods and Results: A retrospective analysis of all transvenous PM implantations in infants <10 kg between September 1997 and October 2001 was made. Indications for PM implantation, age at implantation, and determinants of long-term outcome including cardiac function, PM function, and PM (system) complications were noted. Seven patients underwent transvenous VVI(R) PM implantation...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28427417/novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#9
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical assessments. DNAs were extracted from peripheral blood leukocytes for genetic screening with next generation method...
April 20, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28424434/high-dose-bolus-tirofiban-versus-low-dose-bolus-in-patients-with-acute-coronary-syndrome-undergoing-percutaneous-coronary-intervention
#10
Taner Ulus, Utku Şenol, Senan Tahmazov, Kemal Iskenderov, Fezan Mutlu, Yüksel Çavuşoğlu
OBJECTIVE: Aim of the present study was to determine effects of high-dose versus low-dose intravenous (IV) bolus tirofiban on angiographic measures, ST resolution, enzymatic infarct size, and clinical outcomes in patients with acute coronary syndrome (ACS) who were undergoing percutaneous coronary intervention (PCI) and received current pharmacoinvasive therapy. METHODS: Acute coronary syndrome patients (n=271, 85.6% male; mean age: 57.9±12.6 years) from between 2009 and 2015 who received IV tirofiban therapy following PCI were retrospectively analyzed...
March 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28414673/purulent-pericarditis-due-to-an-infected-pacemaker-lead
#11
Teresa Backes
INTRODUCTION: Intravenous drug users have a substantially increased risk of infective endocarditis, especially in the setting of implanted cardiac devices. Purulent pericarditis is a rare occurrence that can occur iatrogenically or through direct or hematogenous spread. CASE DESCRIPTION: A 75 year old man with a past medical history significant for hepatitis C, IV drug abuse, and sick sinus syndrome status post pacemaker was brought in by EMS with a chief complaint of diaphoresis and chest pain...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28402512/defective-trophoblast-invasion-underlies-fetal-growth-restriction-and-pre-eclampsia-like-symptoms-in-the-stroke-prone-spontaneously-hypertensive-rat
#12
G Barrientos, M Pussetto, M Rose, A C Staff, S M Blois, J E Toblli
STUDY QUESTION: What is the impact of chronic hypertension on placental development, fetal growth and maternal outcome in the stroke-prone spontaneously hypertensive rat (SHRSP)? SUMMARY ANSWER: SHRSP showed an impaired remodeling of the spiral arteries and abnormal pattern of trophoblast invasion during placentation, which were associated with subsequent maternal glomerular injury and increased baseline hypertension as well as placental insufficiency and asymmetric fetal growth restriction...
April 11, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28384949/comparative-study-of-surgical-management-of-fracture-neck-of-femur-with-cemented-versus-uncemented-bipolar-hemiarthroplasty
#13
Y S Prashanth, M Niranjan
INTRODUCTION: There is evidence for use of cemented hemiarthroplasty resulting in greater anchoring and lesser peri prosthetic fracture. However, this procedure results in more haemodynamic instability and cardiopulmonary complications termed as 'cement reaction' or bone cement implantation syndrome. There has been a heightened interest among surgeons to compare cemented and uncemented hemiarthroplasty for fracture neck of femur. AIM: To compare cemented and uncemented hemiarthroplasty in terms of blood loss during the procedure, post-operative complications, mortality, functional recovery and long term clinical outcome...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28382120/outcomes-of-late-implantation-in-usher-syndrome-patients
#14
Ana Cristina H Hoshino, Agustina Echegoyen, Maria Valéria Schmidt Goffi-Gomez, Robinson Koji Tsuji, Ricardo Ferreira Bento
Introduction Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language. During adolescence, as they start losing vision, they are usually referred to cochlear implantation as a salvage for their new condition. Is a late implantation beneficial to these children? Objective The objective of this study is to describe the outcomes of US patients who received cochlear implants at a later age...
April 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28377907/initial-clinical-experience-with-the-endologix-afx-unibody-stent-graft-system-for-treating-patients-with-abdominal-aortic-aneurysms-a-case-controlled-comparative-study
#15
George N Kouvelos, Petroula Nana, Vasilios Bouris, Michalis Peroulis, Aikaterini Drakou, Nikolaos Rousas, Athanasios Giannoukas, Miltiadis I Matsagkas
PURPOSE: The newly designed unibody AFX endograft system for endovascular aortic aneurysm repair is the only graft with anatomical fixation to the aortic bifurcation in comparison to most other grafts that use the infrarenal neck as the main fixation point. The aim of this study was to assess the preliminary results of the AFX stent-graft system used with infrarenal aortic component and compare them with those obtained in patients treated with a well established endograft of the same material and pure infrarenal fixation as the Gore Excluder...
March 2017: Vascular Specialist International
https://www.readbyqxmd.com/read/28377313/conduction-disturbances-after-tavr-electrophysiological-studies-and-pacemaker-dependency
#16
Nader Makki, Jenn Dollery, Danielle Jones, Juan Crestanello, Scott Lilly
BACKGROUND: Permanent pacemaker (PPM) placement occurs in 5-20% of patients after transcatheter aortic valve replacement (TAVR). Although predictors of pacemaker implantation have been established, features that predispose patients to pacemaker utilization on follow up have not been widely reported. METHODS: We performed a retrospective review of patients undergoing commercial TAVR between 2011 and 2016. We collated patients that underwent in-hospital PPM implantation and had a follow up of at least 3months...
March 15, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28353317/self-expanding-stentys-stent-in-daily-routine-use
#17
Michał Kidawa, Krzysztof Chiżyński, Michał Kacprzak, Anna Ledakowicz-Polak, Marzenna Zielińska
In the era of modern interventional cardiology implantation of balloon expandable stent is a finishing touch of almost every coronary angioplasty. However sometimes we face clinical situation when decision on stent diameter is complicated, especially in ectatic part of arteries, in situations when artery lumen is obscured with thrombus or when reference diameter of proximal and distal part of lesion vary greatly. That is why idea of self-apposing stent similar to one used in peripheral vascular interventions was adopted into cardiology...
March 29, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28344762/protracted-refractory-pain-post-tevar-post-implantation-syndrome
#18
Peter Waweru, Hardeep Gill, Chris Abeid
Aortic dissection is a life-threatening condition and has one of the highest mortality rates of cardiovascular diseases. It remains a devastating disease; with multiple unanswered questions concerning treatment modalities. The role of thoracic endovascular aortic repair (TEVAR) in these patients; especially those with uncomplicated acute aortic Type B dissections (AAD-B) is especially controversial although it has been shown to have better long-term outcomes compared to medical therapy alone. For those who have TEVAR, up to 60% may develop an acute, transient systemic inflammatory response syndrome that remains vaguely defined...
October 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28322477/impact-of-insurance-provider-on-overall-costs-in-failed-back-surgery-syndrome-a-cost-study-of-122-827-patients
#19
Aladine A Elsamadicy, Samuel Harrison Farber, Siyun Yang, Syed Mohammed Qasim Hussaini, Kelly R Murphy, Amanda Sergesketter, Carter M Suryadevara, Promila Pagadala, Beth Parente, Jichun Xie, Shivanand P Lad
OBJECTIVES: Failed back surgery syndrome (FBSS) affects 40% of patients following spine surgery with estimated costs of $20 billion to the US health care system. The aim of this study was to assess the cost differences across the different insurance providers for FBSS patients. METHODS: A retrospective longitudinal study was performed using the Truven MarketScan(®) database to identify FBSS patients from 2001 to 2012. Patients were grouped into Commercial, Medicaid, or Medicare cohorts...
March 21, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28320117/use-of-social-media-to-assess-the-effectiveness-of-vagal-nerve-stimulation-in-dravet-syndrome-a-caregiver-s-perspective
#20
Rushna Ali, Mona Elsayed, Manpreet Kaur, Ellen Air, Naznin Mahmood, Jules Constantinou, Jason Schwalb
BACKGROUND: Dravet syndrome (DS) is a rare genetic epilepsy syndrome which is particularly pharmacoresistant. Vagus nerve stimulation (VNS) is commonly used in the treatment of DS as an adjunct to medical therapy. A meaningful assessment of post-surgical outcomes with VNS is difficult given the rarity of the condition. OBJECTIVE: In a novel approach, we used social media to contact patients with DS to gather data on post-surgical seizure reduction and overall satisfaction with VNS...
April 15, 2017: Journal of the Neurological Sciences
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