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american journal of case report

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https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#1
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. () Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. () Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28402326/chocolate-intake-and-diabetes-risk-in-postmenopausal-american-women
#2
J A Greenberg, J E Manson, L Tinker, M L Neuhouser, L Garcia, M Z Vitolins, L S Phillips
BACKGROUND/OBJECTIVES: Recent long-term prospective cohort studies found inverse associations between chocolate consumption and the risk of type 2 diabetes, but provided conflicting evidence on the nature of the association among women. To assess this association in a large cohort of American women. SUBJECTS/METHODS: Multivariable Cox regression was used with the data from 92 678 postmenopausal women in the prospective Women's Health Initiative study. Chocolate intake was assessed by food frequency questionnaire...
April 12, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28349606/from-moment-to-movement-empowerment-and-resilience-as-a-framework-for-collective-action-in-hong-kong
#3
Wing Y Chan, Lauren B Cattaneo, Winnie Wing Sze Mak, Wan-Ying Lin
The Transconceptual Model of Empowerment and Resilience (American Journal of Community Psychology, 52, 2013, 333) suggests that a set of resilience and empowerment resources fuel both initial and sustained participation in collective action. Using the case study of a prodemocracy movement in Hong Kong, the present study focused on the subset of those resources that are relevant in ongoing collective action: efficacy, skills, and maintenance. As individuals possess varying combinations of these resources, the present study utilized latent profile analysis to test how patterns of empowerment and resilience resources influence initial and long-term collective action...
March 2017: American Journal of Community Psychology
https://www.readbyqxmd.com/read/28341089/corrigendum-to-malignant-transformation-of-keratocystic-odontogenic-tumor-two-case-reports-american-journal-of-otolaryngology-34-2013-357-361
#4
Bernard Tan, Sok Yan Tay, Lee Shermin, Kwa Chong Teck, Poon Choy Yoke, Christopher Goh, Abhilash Balakrishnan
No abstract text is available yet for this article.
March 21, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28253424/botulinum-toxin-for-the-treatment-of-strabismus
#5
REVIEW
Fiona J Rowe, Carmel P Noonan
BACKGROUND: The use of botulinum toxin as an investigative and treatment modality for strabismus is well reported in the medical literature. However, it is unclear how effective it is in comparison to other treatment options for strabismus. OBJECTIVES: The primary objective was to examine the efficacy of botulinum toxin therapy in the treatment of strabismus compared with alternative conservative or surgical treatment options. This review sought to ascertain those types of strabismus that particularly benefit from the use of botulinum toxin as a treatment option (such as small angle strabismus or strabismus with binocular potential, i...
March 2, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28242768/american-orthopaedic-foot-and-ankle-society-aofas-ankle-hindfoot-score-a-study-protocol-for-the-translation-and-validation-of-the-dutch-language-version
#6
Esther M M Van Lieshout, A Siebe De Boer, Duncan E Meuffels, P Ted Den Hoed, Cornelis H Van der Vlies, Wim E Tuinebreijer, Michael H J Verhofstad
INTRODUCTION: The American Orthopaedic Foot and Ankle Society (AOFAS) Ankle-Hindfoot Score is among the most commonly used instruments for measuring the outcome of treatment in patients who sustained a complex ankle or hindfoot injury. It combines a clinician-reported and a patient-reported part. A valid Dutch version of this instrument is currently not available. Such a translated and validated instrument would allow objective comparison across hospitals or between patient groups, and with shown validity and reliability it may become a quality of care indicator in future...
February 27, 2017: BMJ Open
https://www.readbyqxmd.com/read/28145906/safety-of-tofacitinib-in-the-treatment-of-rheumatoid-arthritis-in-latin-america-compared-with-the-rest-of-the-world-population
#7
Oswaldo M Castañeda, Felix J Romero, Ariel Salinas, Gustavo Citera, Eduardo Mysler, Oscar Rillo, Sebastiao C Radominski, Mario H Cardiel, Juan J Jaller, Carlos Alvarez-Moreno, Dario Ponce de Leon, Graciela Castelli, Erika G García, Kenneth Kwok, Ricardo Rojo
OBJECTIVE: Rheumatoid arthritis (RA) is a chronic, autoimmune disease characterized by joint destruction. Tofacitinib is an oral Janus kinase inhibitor for the treatment of RA. This post hoc analysis assessed the safety of tofacitinib in Latin American (LA) patients with RA versus the Rest of World (RoW) population. METHODS: Data were pooled from 14 clinical studies of tofacitinib: six Phase 2, six Phase 3 and two long-term extension studies. Incidence rates (IRs; patients with events/100 patient-years of treatment exposure) were calculated for safety events of special interest combined across tofacitinib doses...
February 1, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28145427/variability-in-assigning-pathogenicity-to-incidental-findings-insights-from-ldlr-sequence-linked-to-the-electronic-health-record-in-1013-individuals
#8
Maya S Safarova, Eric W Klee, Linnea M Baudhuin, Erin M Winkler, Michelle L Kluge, Suzette J Bielinski, Janet E Olson, Iftikhar J Kullo
Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert reviewers in assigning pathogenicity to sequence variants in LDLR, the causal gene in the majority of cases of familial hypercholesterolemia. LDLR was sequenced on the Illumina HiSeq platform (average read depth >200 × ) in 1013 Mayo Biobank participants recruited from 2012 to 2013. Variants with a minor allele frequency (MAF) <5% predicted to be functional or referenced in HGMD (Human Gene Mutation Database) or NCBI-ClinVar databases were reviewed...
April 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28112784/update-on-distal-radius-fractures
#9
Adam E M Eltorai, Andrew D Sobel, Nathan P Thomas, Alan H Daniels, Christopher T Born
This article discusses recent reports on distal radius fractures. The keyword "distal radius fracture" was used to query the PubMed database of the US National Library of Medicine. From the resulting list, articles published in the Journal of Hand Surgery (American Volume), the Journal of Hand Surgery (European Volume), and the Journal of Orthopaedic Trauma from April 2014 through December 2015 were reviewed. Related commentaries were also evaluated. Case series of fewer than 5 patients were excluded. The 65 studies and commentaries identified are categorized and summarized...
January 20, 2017: Orthopedics
https://www.readbyqxmd.com/read/28107475/review-and-analysis-of-publication-trends-over-three-decades-in-three-high-impact-medicine-journals
#10
Alexander Ivanov, Beata A Kaczkowska, Saadat A Khan, Jean Ho, Morteza Tavakol, Ashok Prasad, Geetha Bhumireddy, Allan F Beall, Igor Klem, Parag Mehta, William M Briggs, Terrence J Sacchi, John F Heitner
CONTEXT: Over the past three decades, industry sponsored research expanded in the United States. Financial incentives can lead to potential conflicts of interest (COI) resulting in underreporting of negative study results. OBJECTIVE: We hypothesized that over the three decades, there would be an increase in: a) reporting of conflict of interest and source of funding; b) percentage of randomized control trials c) number of patients per study and d) industry funding...
2017: PloS One
https://www.readbyqxmd.com/read/28052113/zoonoses-in-veterinary-students-a-systematic-review-of-the-literature
#11
Antonio Sánchez, Miranda Prats-van der Ham, Juan Tatay-Dualde, Ana Paterna, Christian de la Fe, Ángel Gómez-Martín, Juan C Corrales, Antonio Contreras
BACKGROUND: Veterinary students face diverse potential sources of zoonotic pathogens since the first years of their academic degree. Such sources include different animal species and pathologic materials which are used at university facilities as well as commercial clinics, farms and other external facilities. OBJECTIVES: The present study utilizes a systematic review of the literature to identify zoonoses described in veterinary students. DATA SOURCES: Web of Science and PubMed...
2017: PloS One
https://www.readbyqxmd.com/read/28029320/pulmonary-infiltrates-in-a-patient-with-advanced-melanoma
#12
Charles A Powell
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice...
March 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28027049/occupational-therapy-interventions-for-adolescents-with-autism-spectrum-disorder
#13
Scott Tomchek, Kristie Patten Koenig, Marian Arbesman, Deborah Lieberman
Evidence Connection articles provide a clinical application of systematic reviews developed in conjunction with the American Occupational Therapy Association's (AOTA's) Evidence-Based Practice Project. In this Evidence Connection article, we describe a case report of an adolescent with autism spectrum disorder. The occupational therapy assessment and treatment processes for school, home, community, and transition settings are described. Findings from the systematic reviews on this topic were published in the September/October 2015 issue of the American Journal of Occupational Therapy and in AOTA's Occupational Therapy Practice Guidelines for Individuals With Autism Spectrum Disorder...
January 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/27898350/cronkhite-canada-syndrome-complicated-by-pulmonary-embolism-a-case-report
#14
Neha L Nemade, Urvi B Shukla, Gajanan D Wagholikar
INTRODUCTION: Cronkhite Canada Syndrome (CCS) is a rare syndrome, described in 1955 by Americans, Leonard Wolsey Cronkhite and Wilma Jeanne Canada in the New England Journal of Medicine [1]. About 450 cases have been reported. Complications, like malignant transformation, unprovoked thromboembolism is known. Since there is wide variability in medical presentation, no definitive diagnostic and treatment protocol s have been set. The mortality remains at 55%. CASE PRESENTATION: We report a case of a 50 year old male patient presenting with diarrhea, weight loss, abdominal pain, ectodermal features...
November 17, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27854093/posterior-reversible-encephalopathy-syndrome-mimicking-brainstem-infarction-a-dilemma
#15
Tsung-Han Ho, Chia-Lin Tsai, Yaw-Don Hsu, Jiunn-Tay Lee, Fu-Chi Yang, Chia-Ching Hsu, Chun-Chieh Lin
PURPOSE: We had recently reported one case at American Journal of Emergency Medicine about centralvariant posterior reversible encephalopathy syndrome (PRES) in an 84-year-old woman with an initial misdiagnosis as central pontine myelinolysis (CPM). Here, we introduce another case of centralvariant PRES in a 49-year-old man mimicking as acute brainstem infarction in the cranial computed tomography (CT) findings. CASE REPORT: A 49-year-old man was admitted to the emergency department with a 5-day history of vertigo, cognitive decline, and difficulty in walking...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27831548/a-novel-more-efficient-staged-approach-for-critical-congenital-heart-disease-screening
#16
J Mouledoux, S Guerra, J Ballweg, Y Li, W Walsh
OBJECTIVE: Screening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the American Academy of Pediatrics and the American Heart Association. The recommended screening requires two saturation readings. We sought to determine the incidence of undetected CCHD in Tennessee for the 2 years following implementation of an algorithm that assigned an immediate pass to a single lower extremity saturation of 97% or higher. STUDY DESIGN: State Genetic Screening records and reports of missed cases from the Tennessee Initiative for Perinatal Quality Care were used to determine if CCHD cases were missed by the new screening algorithm...
March 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27436264/copy-number-variations-in-375-patients-with-oesophageal-atresia-and-or-tracheoesophageal-fistula
#17
Erwin Brosens, Florian Marsch, Elisabeth M de Jong, Hitisha P Zaveri, Alina C Hilger, Vera Gisela Choinitzki, Alice Hölscher, Per Hoffmann, Stefan Herms, Thomas M Boemers, Benno M Ure, Martin Lacher, Michael Ludwig, Bert H Eussen, Robert M van der Helm, Hannie Douben, Diane Van Opstal, Rene M H Wijnen, H Berna Beverloo, Yolande van Bever, Alice S Brooks, Hanneke IJsselstijn, Daryl A Scott, Johannes Schumacher, Dick Tibboel, Heiko Reutter, Annelies de Klein
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts...
December 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27433299/levels-of-evidence-in-the-treatment-of-slipped-capital-femoral-epiphysis-a-systematic-review
#18
Andrew Moriarity, Jim Kennedy, Joe Baker, Pat Kiely
The primary aim of this study was to analyze the current level of evidence available on the surgical management of Slipped Capital Femoral Epiphysis (SCFE). Secondary aims were to correlate the level of evidence with the impact factor of the journal to evaluate the level of evidence over time, and to evaluate the geographic distribution of the studies. Therapeutic studies published in English between January 1991 and August 2014 that reported on SCFE were identified via electronic search was performed using the databases PubMed, EMBASE, and the Cochrane Library...
June 27, 2016: Orthopedic Reviews
https://www.readbyqxmd.com/read/27405471/breast-cancer-policy-in-latin-america-account-of-achievements-and-challenges-in-five-countries
#19
Gustavo Nigenda, Maria Cecilia Gonzalez-Robledo, Luz Maria Gonzalez-Robledo, Rosa Maria Bejarano-Arias
BACKGROUND: The recent increase of breast cancer mortality has put on alert to most countries in the region. However it has taken some time before breast cancer could be considered as a relevant problem. Only in recent years breast cancer has been considered a priority in some Latin American countries and resources have been mobilized to confront the problem at the institutional level. The article analyzes the efforts made in five Latin American countries (Argentina, Brazil, Colombia, Mexico and Venezuela) in the last 15 years to design and implement policies to address the growing incidence of breast cancer...
2016: Globalization and Health
https://www.readbyqxmd.com/read/27197976/income-inequality-and-child-mortality-in-wealthy-nations
#20
David Collison
This chapter presents evidence of a relationship between child mortality data and socio-economic factors in relatively wealthy nations. The original study on child mortality that is reported here, which first appeared in a UK medical journal, was undertaken in a school of business by academics with accounting and finance backgrounds. The rationale explaining why academics from such disciplines were drawn to investigate these issues is given in the first part of the chapter. The findings related to child mortality data were identified as a special case of a wide range of social and health indicators that are systematically related to the different organisational approaches of capitalist societies...
2016: World Review of Nutrition and Dietetics
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