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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719901/patient-related-benefits-for-adults-with-cochlear-implantation-a-multicultural-longitudinal-observational-study
#2
Thomas Lenarz, Lida Muller, Hanna Czerniejewska-Wolska, Hector Vallés Varela, César Orús Dotú, Marcin Durko, Alicia Huarte Irujo, Bartosz Piszczatowski, Marek Zadrożniak, Colin Irwin, Petra L Graham, Josie Wyss
OBJECTIVES: To assess subjectively perceived, real-world benefits longitudinally for unilateral cochlear implant (CI) recipients in a multinational population treated routinely. To identify possible predictors of self-reported benefits. DESIGN: This was a prospective, multicenter, repeated-measures study. Self-assessment of performance at preimplantation and postimplantation at 1, 2, and 3 years using standardized, validated, local language versions of the Speech, Spatial, and Qualities of Hearing Scale (SSQ), and the Health Utilities Index Mark 3 (HUI3) was performed...
July 19, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28719837/prescription-trends-and-the-selection-of-initial-oral-antidiabetic-agents-for-patients-with-newly-diagnosed-type-2-diabetes-a-nationwide-study
#3
C-H Liu, S-T Chen, C-H Chang, L-M Chuang, M-S Lai
OBJECTIVES: The aim of this study was to examine the characteristics of patients, physicians, and medical facilities, and their association with prescriptions that do not include metformin as the initial oral antidiabetic agent. STUDY DESIGN: Observational, cross-sectional study. METHODS: Patients with incident type 2 diabetes between January 1, 2006, and December 31, 2010, were identified from the Taiwan National Insurance Research Database...
July 15, 2017: Public Health
https://www.readbyqxmd.com/read/28719831/metacognitive-profiles-in-schizophrenia-and-bipolar-disorder-comparisons-with-healthy-controls-and-correlations-with-negative-symptoms
#4
Raffaele Popolo, Elizabeth Smith, Paul H Lysaker, Krizia Lestingi, Francesca Cavallo, Luisa Melchiorre, Cristina Santone, Giancarlo Dimaggio
While deficits in metacognition, or the ability to notice and reflect upon mental states has been observed in schizophrenia and linked with poorer concurrent and future function, it is unknown whether these deficits are unique to schizophrenia. Accordingly, this study assessed metacognition using the Metacognitive Assessment Scale-Abbreviated (MAS-A) and the Metacognitions Questionnaire- 30 (MCQ-30) among 26 adults with schizophrenia, 23 with bipolar disorder and 23 healthy controls. Symptom levels of the psychiatric groups were assessed with the Brief Psychiatric Rating Scale...
July 11, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28719787/in-vivo-performance-of-a-novel-anatomically-shaped-total-meniscal-prosthesis-made-of-polycarbonate-urethane-a-12-month-evaluation-in-goats
#5
Anne C T Vrancken, Gerjon Hannink, Wojciech Madej, Nico Verdonschot, Tony G van Tienen, Pieter Buma
BACKGROUND: Injury or loss of the meniscus generally leads to degenerative osteoarthritic changes in the knee joint. However, the treatment options for symptomatic patients with total meniscectomy are limited. Therefore, we developed a novel, anatomically shaped, total meniscal implant made of polycarbonate urethane. PURPOSE: To evaluate the in vivo performance of this novel total meniscal implant. The assessment particularly focused on the implant's response to long-term physiological loading in a goat model and its chondroprotective capacity in comparison to clinically relevant controls...
July 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28719778/medial-malleoli-fractures-clinical-comparison-between-newly-designed-sled-device-and-conventional-screws
#6
Hemil Maniar, Harish Kempegowda, Akhil A Tawari, Michael R Rutter, Amrut Borade, Gerard Cush, Daniel S Horwitz
BACKGROUND: The Trimed Medial Malleolar Sled is a newer device designed to treat medial malleolus fracture. The purpose of this study was to compare the outcome of medial malleolar fractures treated with the sled and conventional malleolar screws. METHODS: After obtaining an institutional review board approval, we conducted a retrospective study to identify all skeletally mature patients who sustained an ankle fracture with medial malleolar involvement treated with the sled and we identified a matched cohort treated with conventional malleolar screws...
August 2017: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/28719713/lymph-node-positive-cutaneous-nonmelanoma-skin-cancer-a-poor-prognosis-disease-in-need-of-treatment-intensification
#7
Lora S Wang, Elizabeth A Handorf, John A Ridge, Barbara A Burtness, Miriam N Lango, Ranee Mehra, Jeffrey C Liu, Thomas J Galloway
Locoregionally advanced nonmelanoma skin cancer (NMSC) has an aggressive clinical course characterized by high rates of treatment failure and poor survival compared with localized skin cancers. Our goal was to investigate multimodal therapy for lymph-node-positive NMSC. Data from patients with lymph-node-positive NMSC who underwent surgery and adjuvant therapy at a single tertiary center from 2002 to 2012 were retrospectively reviewed. Median follow-up was 1.8 years (range: 0.5 to 8.5). Overall survival (OS) and progression-free survival (PFS) were calculated using the Kaplan-Meier method...
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28719708/plasmablade-vs-cold-dissection-tonsillectomy-a-prospective-randomized-double-blind-controlled-study-in-adults
#8
Rasim Yilmazer, Zahide Mine Yazici, Meliksah Balta, Ibrahim Erdim, Omer Erdur, Fatma Tulin Kayhan
We conducted a prospective, randomized, double-blind, controlled clinical study to compare the efficacy and safety of the PlasmaBlade device and cold dissection for adult tonsillectomy. Our study group was made up of 20 patients-12 men and 8 women, aged 18 to 50 years (mean: 27.1)-who were undergoing a bilateral tonsillectomy. Each patient had one randomly chosen tonsil removed by the PlasmaBlade and the other by cold instrumentation. We compared the duration of surgery, the amount of intraoperative blood loss, the number of sutures required, the status of tonsillar fossa wound healing at 7 and 14 days postoperatively, the amount of postoperative pain, and postoperative complications...
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28719668/epidemiology-and-distribution-of-10-superantigens-among-invasive-streptococcus-pyogenes-disease-in-germany-from-2009-to-2014
#9
Matthias Imöhl, Christina Fitzner, Stephanie Perniciaro, Mark van der Linden
A nationwide laboratory-based surveillance study of invasive S. pyogenes infections was conducted in Germany. Invasive isolates (n = 719) were obtained between 2009 and 2014. Most isolates were obtained from blood (92.1%). The proportions of isolates from cerebrospinal fluid, pleural fluid, synovial fluid and peritoneal fluid were 3.9%, 1.8%, 1.7% and 0.6%, respectively. The most common emm types were emm 1 (31.8%), emm 28 (15.4%) and emm 89 (14.5%). The most common superantigen genes (speA, speC, speG, speH, speI, speJ, speK, speL, speM, ssa) identified from S...
2017: PloS One
https://www.readbyqxmd.com/read/28719650/heat-stimuli-enhanced-osteogenesis-using-clinically-available-biomaterials
#10
Takehiro Ota, Yoshihiro Nishida, Kunihiro Ikuta, Ryuji Kato, Eiji Kozawa, Shunsuke Hamada, Tomohisa Sakai, Naoki Ishiguro
A recent study reported that heat stress stimulates osteogenesis in an in vivo rat model using alginate gel and magnetite cationic liposomes. However, for clinical use, the efficacy for promoting osteogenesis needs to be investigated using clinically approved materials, and preferably with animals larger than rats. The aim of this study was to evaluate multiple heat stimuli-triggered osteogenesis in rat tibial defect models using already clinically applicable materials (Resovist® and REGENOS®) and determine the efficacy also in the rabbit...
2017: PloS One
https://www.readbyqxmd.com/read/28719593/long-term-treatment-of-eosinophilic-esophagitis-with-swallowed-topical-corticosteroids-development-and-evaluation-of-a-therapeutic-concept
#11
Thomas Greuter, Christian Bussmann, Ekaterina Safroneeva, Alain M Schoepfer, Luc Biedermann, Stephan R Vavricka, Alex Straumann
OBJECTIVES: Swallowed topical corticosteroids (STCs) are efficacious in inducing and presumably maintaining remission in patients with active eosinophilic esophagitis (EoE). Hitherto, it has not been evaluated whether long-lasting remission can be achieved, and whether treatment can be stopped once patients have achieved this remission. METHODS: Since 2007, EoE patients included into a large database at the Swiss EoE Clinics were put on STCs as induction/maintenance therapy...
July 18, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28719553/the-effect-of-a-lay-led-group-based-self-management-program-for-patients-with-chronic-pain-a-randomized-controlled-trial-of-the-danish-version-of-the-chronic-pain-self-management-programme
#12
Mimi Mehlsen, Lea Hegaard, Eva Ørnbøl, Jens Søndergaard Jensen, Per Fink, Lisbeth Frostholm
The Stanford Chronic Pain Self-Management Programme (CPSMP) consists of six 2½-hour weekly workshops focusing on how to manage pain in daily life. The workshops are facilitated by two workshop leaders of whom at least one must suffer from a long-term pain condition. The program is highly structured and manualized. Only few controlled trials testing the effect of CPSMP exist.Enrolled in the study were 424 adults from 19 Danish municipalities, (72% women; age: 25-93 years) with pain of any etiology and great variation in pain history (0-50 yrs)...
June 22, 2017: Pain
https://www.readbyqxmd.com/read/28719552/immune-checkpoint-inhibitors-in-organ-transplant-patients
#13
Adam S Kittai, Hayden Oldham, Jeremy Cetnar, Matthew Taylor
Modulation of T-cell activity through blockade of coinhibitory molecules has revolutionized the treatment of various malignancies. Several immune checkpoint inhibitors are currently Food and Drug Administration approved which target various coinhibitory pathways including cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), programmed death 1 receptor (PD-1), and programmed cell death ligand-1. Clinical trials that lead to the Food and Drug Administration approval of these agents often excluded patients with an organ transplant...
July 17, 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/28719548/forearm-pronation-osteotomy-for-supination-contracture-secondary-to-obstetrical-brachial-plexus-palsy-a-retrospective-cohort-study
#14
Aharon Z Gladstein, Brant Sachleben, Emily S Ho, Alison Anthony, Howard M Clarke, Sevan Hopyan
BACKGROUND: Obstetrical brachial plexus palsy can lead to fixed forearm supination contracture. Fixed supination may lead to functional deficits as the affected hand cannot be positioned optimally for activities on a desk such as writing and typing, or for using tools including utensils, which require a neutral or pronated forearm. Forearm pronation osteotomy has been used to address this problem, although the functional benefit over nonoperative management has not been clearly defined...
July 17, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28719527/pupillometry-guided-intraoperative-remifentanil-administration-versus-standard-practice-influences-opioid-use-a-randomized-study
#15
Nada Sabourdin, Jérôme Barrois, Nicolas Louvet, Agnès Rigouzzo, Marie-Laurence Guye, Christophe Dadure, Isabelle Constant
BACKGROUND: Pupillometry has shown promising results for assessing nociception in anesthetized patients. However, its benefits in clinical practice are not demonstrated. The aim of this prospective randomized study was to evaluate the impact of intraoperative pupillometry monitoring on perioperative opioid consumption in major gynecologic surgery. METHODS: After receiving ethics committee approval and written consent of patients, American Society of Anesthesiologists status I to II women undergoing gynecologic surgery were included in this single-blinded, prospective, parallel-arm randomized study...
August 2017: Anesthesiology
https://www.readbyqxmd.com/read/28719524/establishing-obstetric-anesthesiology-practice-guidelines-in-the-republic-of-armenia-a-global-health-collaboration
#16
Gordon Yuill, Ashot Amroyan, Simon Millar, Emil Vardapetyan, Ashraf S Habib, Medge D Owen
BACKGROUND: Disparity exists in anesthesia practices between high- and low-to-middle income countries, and awareness has been raised within the global health community to improve the standards of anesthesia care and patient safety. The establishment of international collaborations and appropriate practice guidelines may help address clinical care deficiencies. This report's aim was to assess the impact of a multiyear collaboration on obstetric anesthesia practices in the Republic of Armenia...
August 2017: Anesthesiology
https://www.readbyqxmd.com/read/28719503/central-peripheral-temperature-monitoring-as-a-marker-for-diagnosing-late-onset-neonatal-sepsis
#17
José Luis Leante-Castellanos, Antonio Martínez-Gimeno, Manuel Cidrás-Pidré, Gerardo Martínez-Munar, Ana García-González, Carmen Fuentes-Gutiérrez
BACKGROUND: The prognosis for late-onset sepsis depends largely on a timely diagnosis. We assess central-peripheral temperature difference monitoring as a marker for late-onset neonatal sepsis diagnosis. METHODS: We performed a prospective, observational study focusing on a cohort of 129 very low birth weight infants. Thermal gradient alteration was defined as a difference of > 2°C maintained during 4 hours. We then determined its association with the late-onset sepsis variable through logistic regression...
July 13, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28719502/safety-of-quadrivalent-meningococcal-conjugate-vaccine-in-children-2-10-years
#18
Sara Y Tartof, Lina S Sy, Bradley K Ackerson, Rulin C Hechter, Mendel Haag, Jeffrey M Slezak, Yi Luo, Christine A Fischetti, Harp S Takhar, Yan Miao, Zendi Solano, Steven J Jacobsen, Hung-Fu Tseng
BACKGROUND: Quadrivalent meningococcal conjugate vaccine is recommended for children, adolescents, and adults at increased risk of meningococcal disease. In 2011, MenACWY-CRM (Menveo, GSK) was approved for children aged 2-10 years in the U.S. Although no safety concerns arose from clinical trials, it remains important to monitor its safety in routine clinical settings. METHODS: Kaiser Permanente Southern California members 2-10 years old who received MenACWY-CRM between September 2011 and September 2014 were included...
July 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28719498/incidence-of-active-tuberculosis-and-cohort-retention-among-adolescents-in-western-kenya
#19
Videlis Nduba, Anna H Van't Hoog, Ellen M H Mitchell, Martien Borgdorff, Kayla F Laserson
SETTING: Siaya County, with the highest tuberculosis notification rates in Kenya. OBJECTIVE: To determine the incidence of active tuberculosis and one year cohort retention in 12-18 year old adolescents, in preparation for Phase III tuberculosis vaccine trials. METHODS: Adolescents were enrolled and followed up for 1-2 years to determine tuberculosis incidence. Adolescents with a positive tuberculin skin test (TST), history of cohabitation with a tuberculosis case, or at least one tuberculosis symptom received clinical and sputum examination and a chest radiograph...
July 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28719393/restrictions-and-limitations-after-pelvic-floor-surgery-what-s-the-evidence
#20
Miles Murphy
PURPOSE OF REVIEW: A common concern regarding pelvic floor surgery is the relatively high risk of recurrence. In an effort to minimize this risk, many surgeons instruct their patients to avoid certain activities during the healing process so as not to damage the repair before proper healing has occurred. However, many of these restrictions have been historically based on little to no hard evidence. The purpose of this review is to present the latest evidence-based recommendations regarding restrictions and limitations after pelvic floor surgery...
July 17, 2017: Current Opinion in Obstetrics & Gynecology
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