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https://www.readbyqxmd.com/read/28109766/crohn-s-disease-in-italy-a-critical-review-of-the-literature-using-different-data-sources
#1
REVIEW
Carlotta Galeone, Claudio Pelucchi, Giovanna Barbera, Claudio Citterio, Carlo La Vecchia, Andrea Franchi
BACKGROUND: Incidence and prevalence of Crohn's disease (CD) have increased during the last decades in several world areas. Italian data on CD are scattered between various administrative, educational and scientific sources, and findings are poorly summarized. AIMS: We conducted a review focusing not only on prevalence and incidence of CD in Italy, but also on mortality, treatments, delayed diagnosis and hospitalization. METHODS: In October 2015, we searched for quantitative epidemiological data of CD using PubMed/Medline, EMBASE, and the Cochrane Database of Systematic Reviews...
January 9, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28109263/common-and-uncommon-neurological-manifestations-of-neuroborreliosis-leading-to-hospitalization
#2
Philipp Schwenkenbecher, Refik Pul, Ulrich Wurster, Josef Conzen, Kaweh Pars, Hans Hartmann, Kurt-Wolfram Sühs, Ludwig Sedlacek, Martin Stangel, Corinna Trebst, Thomas Skripuletz
BACKGROUND: Neuroborreliosis represents a relevant infectious disease and can cause a variety of neurological manifestations. Different stages and syndromes are described and atypical symptoms can result in diagnostic delay or misdiagnosis. The aim of this retrospective study was to define the pivotal neurological deficits in patients with neuroborreliosis that were the reason for admission in a hospital. METHODS: We retrospectively evaluated data of patients with neuroborreliosis...
January 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28109255/the-effect-of-the-xpert-mtb-rif-test-on-the-time-to-mdr-tb-treatment-initiation-in-a-rural-setting-a-cohort-study-in-south-africa-s-eastern-cape-province
#3
Joshua Iruedo, Don O'Mahony, Sikhumbuzo Mabunda, Graham Wright, Busisiwe Cawe
BACKGROUND: There are significant delays in initiation of multidrug-resistant tuberculosis (MDR -TB) treatment. The Xpert MTB/RIF test has been shown to reduce the time to diagnosis and treatment of MDR-TB predominantly in urban centres. This study describes the time to treatment of MDR-TB and the effect of Xpert MTB/RIF on time to treatment in a deprived rural area in South Africa. METHODS: This was a retrospective cohort study analysing the medical records of patients diagnosed with MDR-TB in King Sabata Dalindyebo Sub-District between 2009 and 2014...
January 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28109027/amplitude-integrated-electroencephalography-can-predict-neurodevelopmental-outcome-at-12-months-of-corrected-age-in-very-preterm-infants
#4
Elisabeth Ralser, Vera Neubauer, Ulrike Pupp-Peglow, Ursula Kiechl-Kohlendorfer, Elke Griesmaier
AIM: It is difficult to find diagnostic tools than can reliably predict neurodevelopmental outcomes in very preterm infants in clinical practice. This study evaluated whether amplitude-integrated electroencephalography predicted neurodevelopmental outcome in preterm infants when they reached 12 months of corrected age. METHODS: Between October 2007 and December 2013 we studied 232 preterm infants (51% male) at Innsbruck Medical University Hospital, Austria. Their mean birth weight was 1,264 grams and their mean gestational age was 29...
January 20, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#5
Baran Erman, Ivan Bilic, Tatjana Hirschmugl, Elisabeth Salzer, Heidrun Boztug, Özden Sanal, Deniz Çağdaş Ayvaz, Ilhan Tezcan, Kaan Boztug
Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. We here established a custom-designed, next generation sequencing-based panel to efficiently identify disease-causing genetic defects in PID patients and applied this method in SCID patients of Turkish origin with previously undefined genetic etiology...
January 21, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28107395/prevalence-of-pre-analytical-errors-in-clinical-chemistry-diagnostic-labs-in-sulaimani-city-of-iraqi-kurdistan
#6
Dereen Najat
BACKGROUND: Laboratory testing is roughly divided into three phases: a pre-analytical phase, an analytical phase and a post-analytical phase. Most analytical errors have been attributed to the analytical phase. However, recent studies have shown that up to 70% of analytical errors reflect the pre-analytical phase. The pre-analytical phase comprises all processes from the time a laboratory request is made by a physician until the specimen is analyzed at the lab. Generally, the pre-analytical phase includes patient preparation, specimen transportation, specimen collection and storage...
2017: PloS One
https://www.readbyqxmd.com/read/28107169/genetic-diagnosis-of-%C3%AE-1-antitrypsin-deficiency-using-dna-from-buccal-swab-and-serum-samples
#7
Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías
BACKGROUND: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD. METHODS: Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method...
January 20, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28106554/recovery-from-proactive-semantic-interference-in-mild-cognitive-impairment-and-normal-aging-relationship-to-atrophy-in-brain-regions-vulnerable-to-alzheimer-s-disease
#8
David A Loewenstein, Rosie E Curiel, Clinton Wright, Xiaoyan Sun, Noam Alperin, Elzabeth Crocco, Sara J Czaja, Arlene Raffo, Ailyn Penate, Jose Melo, Kimberly Capp, Monica Gamez, Ranjan Duara
BACKGROUND: There is growing evidence that proactive semantic interference (PSI) and failure to recover from PSI may represent early features of Alzheimer's disease (AD). OBJECTIVE: This study investigated the association between PSI, recovery from PSI, and reduced MRI volumes in AD signature regions among cognitively impaired and unimpaired older adults. METHODS: Performance on the LASSI-L (a novel test of PSI and recovery from PSI) and regional brain volumetric measures were compared between 38 cognitively normal (CN) elders and 29 older participants with amnestic mild cognitive impairment (MCI)...
January 18, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28106548/does-the-female-advantage-in-verbal-memory-contribute-to-underestimating-alzheimer-s-disease-pathology-in-women-versus-men
#9
Erin E Sundermann, Anat Biegon, Leah H Rubin, Richard B Lipton, Susan Landau, Pauline M Maki
There is a growing recognition of sex differences in Alzheimer's disease (AD). Females show an advantage over males on tests of verbal memory, which are used to diagnose AD and its precursor, amnestic mild cognitive impairment (aMCI). Women retain this advantage in aMCI despite reduced hippocampal volume and temporal lobe glucose metabolism. Here we examined whether this female advantage endures despite evidence of AD-specific pathology, cortical amyloid-β (Aβ) deposition measured with [18F]AV45 (florbetapir) positron emission tomography...
January 18, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28103749/clinical-practice-with-anti-dementia-drugs-a-revised-third-consensus-statement-from-the-british-association-for-psychopharmacology
#10
John T O'Brien, Clive Holmes, Matthew Jones, Roy Jones, Gill Livingston, Ian McKeith, Peter Mittler, Peter Passmore, Craig Ritchie, Louise Robinson, Elizabeth L Sampson, John-Paul Taylor, Alan Thomas, Alistair Burns
The British Association for Psychopharmacology coordinated a meeting of experts to review and revise its previous 2011 guidelines for clinical practice with anti-dementia drugs. As before, levels of evidence were rated using accepted standards which were then translated into grades of recommendation A-D, with A having the strongest evidence base (from randomised controlled trials) and D the weakest (case studies or expert opinion). Current clinical diagnostic criteria for dementia have sufficient accuracy to be applied in clinical practice (B) and both structural (computed tomography and magnetic resonance imaging) and functional (positron emission tomography and single photon emission computerised tomography) brain imaging can improve diagnostic accuracy in particular situations (B)...
December 1, 2016: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28103460/-pneumocystis-pneumonia-in-107-hiv-infected-patients-admitted-to-the-department-of-infectious-diseases-at-santa-maria-hospital-lisbon-2002-2013
#11
Vilma Grilo, Aida Pereira
INTRODUCTION: Pneumocystis jirovecii pneumonia remains one of the most common opportunistic illnesses in patients infected with the human immunodeficiency virus. It is currently the most reported AIDS-defining infection in Portugal. The aims of this study were to analyze the features of a human immunodeficiency virus /Pneumocystis jirovecii pneumonia coinfected population, to compare it with the current literature, and to evaluate comparatively subpopulations of patients based on the previous knowledge of the human immunodeficiency virus infection, Pneumocystis jirovecii pneumonia diagnostic method and discharge results...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103199/diagnostic-criteria-for-susac-syndrome
#12
Ilka Kleffner, Jan Dörr, Marius Ringelstein, Catharina C Gross, Yvonne Böckenfeld, Wolfram Schwindt, Benedikt Sundermann, Hubertus Lohmann, Heike Wersching, Julia Promesberger, Natascha von Königsmarck, Anne Alex, Rainer Guthoff, Catharina J M Frijns, L Jaap Kappelle, Sven Jarius, Brigitte Wildemann, Orhan Aktas, Friedemann Paul, Heinz Wiendl, Thomas Duning
BACKGROUND: Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome. METHOD: The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012...
December 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28103121/comparison-of-helicopter-emergency-medical-services-transport-types-and-delays-on-patient-outcomes-at-two-level-i-trauma-centers
#13
Brodie Nolan, Homer Tien, Bruce Sawadsky, Sandro Rizoli, Amanda McFarlan, Andrea Phillips, Alun Ackery
BACKGROUND: Helicopter emergency medical services (HEMS) have become an engrained component of trauma systems. In Ontario, transportation for trauma patients is through one of three ways: scene call, modified scene call, or interfacility transfer. We hypothesize that differences exist between these types of transports in both patient demographics and patient outcomes. This study compares the characteristics of patients transported by each of these methods to two level 1 trauma centers and assesses for any impact on morbidity or mortality...
January 19, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28102620/when-does-speech-sound-disorder-matter-for-literacy-the-role-of-disordered-speech-errors-co-occurring-language-impairment-and-family-risk-of-dyslexia
#14
Marianna E Hayiou-Thomas, Julia M Carroll, Ruth Leavett, Charles Hulme, Margaret J Snowling
BACKGROUND: This study considers the role of early speech difficulties in literacy development, in the context of additional risk factors. METHOD: Children were identified with speech sound disorder (SSD) at the age of 3½ years, on the basis of performance on the Diagnostic Evaluation of Articulation and Phonology. Their literacy skills were assessed at the start of formal reading instruction (age 5½), using measures of phoneme awareness, word-level reading and spelling; and 3 years later (age 8), using measures of word-level reading, spelling and reading comprehension...
February 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#15
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#16
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28100439/considerations-for-an-access-centered-design-of-the-fever-thermometer-in-low-resource-settings-a-literature-review
#17
REVIEW
Rikako Iwamoto, Ana Laura Rodrigues Santos, Niels Chavannes, Ria Reis, Jan Carel Diehl
BACKGROUND: The lack of adequate information about fever in low-resource settings, its unreliable self-assessment, and poor diagnostic practices may result in delayed care and under-or-overdiagnosis of diseases such as malaria. The mismatches of existing fever thermometers in the context of use imply that the diagnostic tools and connected services need to be studied further to address the challenges of fever-related illnesses and their diagnostics. OBJECTIVE: This study aims to inform a product-service system approach to design a reliable and accessible fever thermometer and connected services, as well as contribute to the identification of innovative opportunities to improve health care in low-resource settings...
January 18, 2017: JMIR Human Factors
https://www.readbyqxmd.com/read/28099224/comparison-of-model-based-iterative-reconstruction-adaptive-statistical-iterative-reconstruction-and-filtered-back-projection-for-detecting-hepatic-metastases-on-submillisievert-low-dose-computed-tomography
#18
Jung Hee Son, Seung Ho Kim, Jung-Hee Yoon, Yedaun Lee, Yun-Jung Lim, Seon-Jeong Kim
OBJECTIVE: The aim of the study was to compare the diagnostic performance of model-based iterative reconstruction (MBIR), adaptive statistical iterative reconstruction (ASIR), and filtered back projection (FBP) on submillisievert low-dose computed tomography (LDCT) for detecting hepatic metastases. METHODS: Thirty-eight patients having hepatic metastases underwent abdomen CT. Computed tomography protocol consisted of routine standard-dose portal venous phase scan (120 kVp) and 90-second delayed low-dose scan (80 kVp)...
January 18, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28098821/tumor-microenvironment-modulation-via-gold-nanoparticles-targeting-malicious-exosomes-implications-for-cancer-diagnostics-and-therapy
#19
REVIEW
Catarina Roma-Rodrigues, Luís R Raposo, Rita Cabral, Fabiana Paradinha, Pedro V Baptista, Alexandra R Fernandes
Exosomes are nanovesicles formed in the endosomal pathway with an important role in paracrine and autocrine cell communication. Exosomes secreted by cancer cells, malicious exosomes, have important roles in tumor microenvironment maturation and cancer progression. The knowledge of the role of exosomes in tumorigenesis prompted a new era in cancer diagnostics and therapy, taking advantage of the use of circulating exosomes as tumor biomarkers due to their stability in body fluids and targeting malignant exosomes' release and/or uptake to inhibit or delay tumor development...
January 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28096521/decreased-esophageal-sensitivity-to-acid-in-morbidly-obese-patients-a-cause-for-concern
#20
Vicente Ortiz, Diego Alvarez-Sotomayor, Esteban Sáez-González, Francia Carolina Díaz-Jaime, Marisa Iborra, Julio Ponce, Vicente Garrigues
Background/Aims: To evaluate esophageal sensitivity to acid between morbidly obese (MO) patients and non-MO controls with abnormal esophageal acid exposure. Methods: We conducted a cross-sectional study of 58 patients: 30 MO (cases) and 28 non-MO (controls). Esophageal symptoms and esophageal sensitivity to 0.1 M hydrochloric acid solution (Bernstein test) were compared between MO and non-MO patients with a prior diagnosis of abnormal esophageal acid exposure. Results: MO patients were less symptomatic than non-MO controls (14% vs 96%; odds ratio [OR], 0...
January 20, 2017: Gut and Liver
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