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C C Wu, Y H Chen, T H Yang, K N Lin, S Y Lee, T C Liu, C J Hsu
Congenital ossicular chain anomalies are rare, but are clinically important because hearing loss in most cases is correctable by appropriate surgical interventions. The great diversity in anatomic variations makes congenital ossicular chain anomalies a surgical challenge for otologists. Theoretically, endoscopic surgery might be suitable for management of congenital ossicular chain anomalies by improving visualization of lesions and preserving uninvolved anatomic structures as compared to conventional microscopic surgery...
October 19, 2016: Clinical Otolaryngology
Paola Catastini, Serena Di Marco, Maria Furriolo, Carmela Genovese, Alessia Grande, Eugenia Iacinti, Rosa Danila Iusco, Rita Maria Vittoria Nobili, Rita Pescini, Roberto Ragni, Roberto Randazzo, Cristiana Risso, Paola Tabarini, Cesare Braggion, Salvatore De Masi, Kathleen S McGreevy
BACKGROUND: Cystic fibrosis, like other chronic diseases, is a risk factor for the development of elevated symptoms of depression and anxiety. The objective of this study was to investigate the prevalence of anxiety and depression in Italian patients with CF and their parents. METHODS: The Hospital Anxiety and Depression Scale (HADS) and Center for Epidemiologic Studies Depression Scale (CES-D) questionnaires were administered to a sample of patients and their parents recruited at the cystic fibrosis centers in Italy...
October 19, 2016: Pediatric Pulmonology
Margaret L Griffin, Katherine A McDermott, R Kathryn McHugh, Garrett M Fitzmaurice, Roger D Weiss
BACKGROUND AND OBJECTIVES: Grit is an emerging concept in positive psychology, defined as the ability to be persistent and focused in pursuit of long-term goals. This concept has received a great deal of interest recently because of its robust ability to predict success and well-being across a wide variety of domains. The study aim was to examine the clinical relevance of the construct of grit among patients with substance use disorders. METHODS: Inpatients on a detoxification unit were enrolled from September 2013 to August 2015 (N = 673)...
October 19, 2016: American Journal on Addictions
Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Keiji Tasaka, Kousaku Matsubara, Shizuo Takamiya, Shin-Ichi Ishikawa, Aya Iwata, Hiroyuki Nigami
BACKGROUND: Information on long-term follow-up of childhood-onset anorexia nervosa is scarce. This study aimed to show long-term (>10 years) course, outcome and prognostic factors for hospitalized childhood-onset anorexia nervosa-restricting type (ANR). METHODS: Forty-one ANR girls admitted to a single regional center participated. Median age at first admission was 13.3 (range: 8.6-15.6) years. The longitudinal clinical course was retrospectively determined for a median follow-up period of 17...
October 19, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Sarah F M Pilati, Bianca C Bianco, Daniella S C Vieira, Filipe Modolo
OBJECTIVE: This study aimed to determine the histopathological findings in actinic cheilitis (AC) and lip squamous cell carcinomas (LSCC) diagnosed at Federal University of Santa Catarina in order to attempt to predict the evolution from AC to LSCC based on the comparison of two dysplasia classification systems. METHODS: Histopathological features were evaluated according to the World Health Organization classification of dysplasia and binary system of classification...
October 19, 2016: Oral Diseases
Sandeep Prabhu, Vincent Mackin, Alex Ja McLellan, Tuong Phan, Desmond McGlade, Liang-Han Ling, Kah Y Peck, Alexandr Voskoboinik, Bupesh Pathik, Chrishan J Nalliah, Geoff R Wong, Sonia M Azzopardi, Geoffrey Lee, Justin Mariani, Andrew J Taylor, Jonathan M Kalman, Peter M Kistler
INTRODUCTION: The significance of adenosine induced dormant pulmonary vein (PV) conduction in AF ablation remains controversial. The optimal dose of adenosine to determine dormant PV conduction is yet to be systematically explored. METHODS AND RESULTS: Consecutive patients undergoing index AF ablation received 3 adenosine doses (12mg, 18mg, 24mg) in a randomized blinded order, immediately after PVI. Electrophysiological (PR prolongation, AV block (AVB) and PV reconnection) and hemodynamic (BP) parameters were measured...
October 19, 2016: Journal of Cardiovascular Electrophysiology
H Zöllner, R Jouni, S Panzer, A Khadour, L Janzen, J Wesche, M Ten Berg, S Schellong, A Heinken, A Greinacher, T Bakchoul
BACKGROUND: Protamine (PRT) is used to stabilize insulin in Neutral Protamine Hagedorn (NPH) insulin, a commonly used therapeutic agent for diabetes mellitus. Immunization against PRT/heparin-complexes is common in diabetic patients. OBJECTIVES: To investigate the impact of NPH-insulin on the interaction between anti-PRT/heparin antibodies and platelets. METHODS: The interaction between NPH-insulin and anti-PRT/heparin antibodies was tested using in-house enzyme immunoassays...
October 19, 2016: Journal of Thrombosis and Haemostasis: JTH
Donald B Sanders, Janice M Massey
OBJECTIVE: To determine if single-fiber EMG (SFEMG) jitter accurately reflects change in severity in myasthenia gravis (MG). METHODS: We reviewed jitter and outcome data from all MG patients in our clinic who had at least 2 jitter measurements in the extensor digitorum (ED) or frontalis muscle. RESULTS: Change in all parameters of jitter measured with SFEMG electrodes predicted clinical change with acceptable accuracy. Absolute and percentage change in mean MCD were equally accurate in predicting clinical change and were more accurate than change in the proportion of fiber pairs with blocking or normal jitter...
October 19, 2016: Muscle & Nerve
Suma Babu, Erik P Pioro, Jianbo Li, Yuebing Li
INTRODUCTION: We compared the yield of limb and thoracic paraspinal muscles for revealing lower motor neuron (LMN) dysfunction on electromyography (EMG) in amyotrophic lateral sclerosis (ALS). METHODS: A retrospective review of 354 patients with clinically definite or probable ALS was performed. Seventeen limb muscles and thoracic paraspinal muscles were evaluated for the presence of both active and chronic denervation. RESULTS: Distal limb muscles showed the highest electrodiagnostic sensitivities of LMN dysfunction in ALS regardless of onset region and diagnostic certainty at the time of diagnosis...
October 19, 2016: Muscle & Nerve
Imene Dalichaouche, Yamina Sifi, Carinne Roudaut, Karima Sifi, Abdelmadjid Hamri, Leila Rouabah, Noureddine Abadi, Isabelle Richard
INTRODUCTION: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families that presented with early onset severe muscular dystrophy and a clinical phenotype resembling Limb-girdle muscular dystrophy type 2C (LGMD2C). METHODS: To define the genetic basis of the diseases in these families, we undertook a series of analysis of the γ-sarcoglycan (SGCG) and DMD genes. RESULTS: Fifteen families were shown to carry SGCG variants...
October 19, 2016: Muscle & Nerve
Luca Liberale, Fabrizio Montecucco, Ilaria Casetta, Silva Saraceni, Alessandro Trentini, Marina Padroni, Franco Dallegri, François Mach, Enrico Fainardi, Federico Carbone
BACKGROUND: Soluble mediators have been investigated to predict the prognosis of acute ischemic stroke (AIS). Among them, proprotein convertase subtilisin/kexin type 9 (PCSK9) might have both clinical and pathophysiological relevance. MATERIALS AND METHODS: All available serum samples from a cohort of patients with first AIS (n=72) were tested for PCSK9 and included in this sub-study analysis. The primary endpoint investigated the predictive value of early PCSK9 level variations (ΔPCSK9) from AIS onset to day 7 or from day 1 to day 7, towards a 90-day outcome by modified Rankin Scale (mRS)...
October 19, 2016: European Journal of Clinical Investigation
Rosemary Fama, Edith V Sullivan, Stephanie A Sassoon, Adolf Pfefferbaum, Natalie M Zahr
BACKGROUND: Executive functioning and episodic memory impairment occur in HIV infection (HIV) and chronic alcoholism (ALC). Comorbidity of these conditions (HIV + ALC) is prevalent and heightens risk of vulnerability to separate and compounded deficits. Age and disease-related variables can also serve as mediators of cognitive impairment and should be considered, given the extended longevity of HIV-infected individuals in this era of improved pharmacological therapy. METHODS: HIV, ALC, HIV + ALC, and normal controls (NC) were administered traditional and computerized tests of executive function and episodic memory...
October 19, 2016: Alcoholism, Clinical and Experimental Research
Massimo Del Fabbro, Stefano Corbella, Patrick Sequeira-Byron, Igor Tsesis, Eyal Rosen, Alessandra Lolato, Silvio Taschieri
BACKGROUND: When primary root canal therapy fails, periapical lesions can be retreated with or without surgery. Root canal retreatment is a non-surgical procedure that involves removal of root canal filling materials from the tooth, followed by cleaning, shaping and obturating of the canals. Root-end resection is a surgical procedure that involves exposure of the periapical lesion through an osteotomy, surgical removal of the lesion, removal of part of the root-end tip, disinfection and, commonly, retrograde sealing or filling of the apical portion of the remaining root canal...
October 19, 2016: Cochrane Database of Systematic Reviews
Y-C Huang, J Xiao, W Y Leung, W W Lu, Y Hu, K D Luk
Previous human study suggested that fresh-frozen intervertebral disc allograft transplantation can relieve neurological symptoms and restore segmental kinematics. Before wide clinical application, research into the pathophysiology of the postoperative disc allograft is needed. One important question that remains to be answered in disc allografting is the healing process of the host-graft interface and the subsequent change of the endplates. With the goat model for lumbar disc allografting, histology, micro-computed tomography analysis, scanning electron microscopy and energy-dispersive X-ray spectroscopy mapping were applied to evaluate the healing of the host-graft interfaces, the remodelling of subchondral bone, and the changes of the bony and cartilaginous endplates after transplantation...
October 19, 2016: European Cells & Materials
Fatma Yildirim, Filiz Sadi Aykan
We read the report by Çeltikçi et al in the Turkish Neurosurgery with great interest. In this single-center retrospective study, they analysed 449 intracranial meningioma patients underwent open surgery. They stated that venous thromboembolism (VTE) had been seen in 21 (4.6%) of their patients. This is an important issue because VTE, including deep vein thrombosis (DVT) and pulmonary embolism (PE), is the most common overall complication in meningioma surgery and is fatal in up to one third of patients (2)...
September 26, 2016: Turkish Neurosurgery
Zühtü Özbek, Hasan Emre Aydin, Atacan Emre Koçman, Emre Özkara, Erdem Söztutar, Ezgi Bektur, Murat Vural, Aydan Köse, Ali Arslantaş, Cengiz Bayçu
AIM: In this study, we investigated the effects of genistein in a rat model of sciatic nerve crush injury and complete sciatic nerve transection. The effects of genistein were compared with those of gabapentin, which is widely used in clinical practice for peripheral nerve injury. MATERIAL AND METHODS: Forty-eight rats were randomly divided into six groups (n = 8 for all groups): group 1 (sham); group 2, sciatic nerve crush injury (control); group 3, sciatic nerve crush injury + genistein 20 mg/kg; group 4, sciatic nerve crush injury + gabapentin 90 mg/kg; group 5, sciatic nerve transection + genistein 20 mg/kg; group 6, sciatic nerve transection + gabapentin 90 mg/kg...
September 21, 2016: Turkish Neurosurgery
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