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https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#1
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/28108823/which-clinical-and-patient-factors-influence-the-national-economic-burden-of-hospital-readmissions-after-total-joint-arthroplasty
#2
Steven M Kurtz, Edmund C Lau, Kevin L Ong, Edward M Adler, Frank R Kolisek, Michael T Manley
BACKGROUND: The Affordable Care Act of 2010 advanced the economic model of bundled payments for total joint arthroplasty (TJA), in which hospitals will be financially responsible for readmissions, typically at 90 days after surgery. However, little is known about the financial burden of readmissions and what patient, clinical, and hospital factors drive readmission costs. QUESTIONS/PURPOSES: (1) What is the incidence, payer mix, and demographics of THA and TKA readmissions in the United States? (2) What patient, clinical, and hospital factors are associated with the cost of 30- and 90-day readmissions after primary THA and TKA? (3) Are there any differences in the economic burden of THA and TKA readmissions between payers? (4) What types of THA and TKA readmissions are most costly to the US hospital system? METHODS: The recently developed Nationwide Readmissions Database from the Healthcare Cost and Utilization Project (2006 hospitals from 21 states) was used to identify 719,394 primary TJAs and 62,493 90-day readmissions in the first 9 months of 2013 based on International Classification of Diseases, 9th Revision, Clinical Modification codes...
January 20, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28108424/clinical-and-radiological-findings-after-multilevel-cervical-total-disc-replacement-defining-radiological-changes-to-predict-surgical-outcomes
#3
Jung Hwan Lee, Sang-Ho Lee, Jun Ho Lee
OBJECTIVE: This study compared the radiological parameters between preoperation and postoperation for patients who underwent multilevel cervical total disc replacement (MCTDR) and assessed which parameters were related to successful clinical outcomes after MCTDR. METHODS: The study included a consecutive series of 24 patients who were treated with MCTDR following the diagnosis of multilevel cervical disc herniation or stenosis. Numeric Rating Scale (NRS), C2-7 sagittal vertical axis (SVA), range of motion (ROM) of C2-7 segment and TDR implanted levels were evaluated at pre- and post-TDR...
January 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28107028/interrelationship-of-clinical-radiographic-and-hematological-features-in-patients-under-bisphosphonate-therapy
#4
Valesca Sander Koth, Maria Antonia Figueiredo, Fernanda Gonçalves Salum, Karen Cherubini
OBJECTIVE: To analyze clinical, radiographic and hematological aspects of patients under bisphosphonate therapy. METHODS: A retrospective study was conducted where the records of patients taking bisphosphonates were analyzed considering the occurrence of bisphosphonate-related osteonecrosis of the jaw (BRONJ). Evaluation included panoramic and periapical radiographies, hematological exams and clinical features. Radiographies were analyzed determining the presence or absence of bone sclerosis, osteolysis, persisting alveolar socket, narrowing of the mandibular canal, widening of the periodontal ligament space, periradicular radiolucency, sequestrum, and thickening of the lamina dura...
January 20, 2017: Dento Maxillo Facial Radiology
https://www.readbyqxmd.com/read/28106520/impact-of-area-deprivation-index-on-coronary-stent-utilization-in-a-medicare-nationwide-cohort
#5
Tushar A Tuliani, Maithili Shenoy, Milind Parikh, Kenneth Jutzy, Anthony Hilliard
Area Deprivation Index (ADI) is a marker of neighborhood deprivation. This study investigates utilization of coronary bare-metal stent (BMS) and drug-eluting stent (DES) in Medicare patients across hospitals with varying ADI. Data were abstracted using Diagnosis-Related Group (DRG) codes 249 (BMS without major complications or comorbidities [MCC]), 246, and 247 (DES with and without MCC, respectively) from the 2011-2012 Medicare Provider Utilization and Payment Data Inpatient File, which was linked to American Hospital Association data (to determine bed size, location, ownership, teaching status), and ADI for each hospital zip code was obtained...
January 20, 2017: Population Health Management
https://www.readbyqxmd.com/read/28106045/identification-of-shared-and-unique-gene-families-associated-with-oral-clefts
#6
Noriko Funato, Masataka Nakamura
Oral clefts, the most frequent congenital birth defects in humans, are multifactorial disorders caused by genetic and environmental factors. Epidemiological studies point to different etiologies underlying the oral cleft phenotypes, cleft lip (CL), CL and/or palate (CL/P) and cleft palate (CP). More than 350 genes have syndromic and/or nonsyndromic oral cleft associations in humans. Although genes related to genetic disorders associated with oral cleft phenotypes are known, a gap between detecting these associations and interpretation of their biological importance has remained...
January 20, 2017: International Journal of Oral Science
https://www.readbyqxmd.com/read/28105904/increasing-use-of-ctpa-for-the-investigation-of-suspected-pulmonary-embolism
#7
Sidharth Sharma, Christopher D Lucas
OBJECTIVES: Pulmonary embolism (PE) is a frequently suspected life-threatening condition that often presents with non-specific signs and symptoms. There is concern that increased availability of computerized tomography pulmonary angiogram (CTPA) is resulting in overuse in the diagnostic workup of patients presenting with cardio-respiratory symptoms. We therefore aimed to determine whether use of CTPA was increasing over time within our institution, with a consequent decrease in the diagnostic yield of PE...
January 20, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28105670/the-role-of-shame-in-people-with-a-diagnosis-of-schizophrenia
#8
Nadine Keen, Darren George, Peter Scragg, Emmanuelle Peters
OBJECTIVES: To examine the role of shame and its relationship to depression in schizophrenia. It was predicted that individuals with a diagnosis of schizophrenia would exhibit higher levels of shame due to the stigma associated with their diagnosis, independently of depression levels, compared with psychiatric and medical control groups. DESIGN: Cross-sectional design with three groups: individuals with a diagnosis of (1) schizophrenia, (2) depression, and (3) rheumatoid arthritis...
January 19, 2017: British Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28105259/clinical-usefulness-of-ursodeoxycholic-acid-for-japanese-patients-with-autoimmune-hepatitis
#9
Yuichi Torisu, Masanori Nakano, Keiko Takano, Ryo Nakagawa, Chisato Saeki, Atsushi Hokari, Tomohisa Ishikawa, Masayuki Saruta, Mikio Zeniya
AIM: To evaluate the therapeutic effects of ursodeoxycholic acid (UDCA) on autoimmune hepatitis (AIH). METHODS: A total 136 patients who were diagnosed with AIH were included in our study. All of the patients underwent a liver biopsy, and had at least a probable diagnosis on the basis of either the revised scoring system or the simplified scores. Initial treatment included UDCA monotherapy (Group U, n = 48) and prednisolone (PSL) monotherapy (Group P, n = 88). Group U was further classified into two subgroups according to the effect of UDCA: Patients who had achieved remission induction with UDCA monotherapy and showed no sign of relapse (Subgroup U1, n = 34) and patients who additionally received PSL during follow-up (Subgroup U2, n = 14)...
January 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28105247/initial-fludeoxyglucose-18f-positron-emission-tomography-computed-tomography-fdg-pet-ct-imaging-of-breast-cancer-correlations-with-the-primary-tumour-and-locoregional-metastases
#10
Sevin Ayaz, Salih Sinan Gültekin, Ümit Yaşar Ayaz, Alper Dilli
BACKROUND: We aimed to evaluate initial PET/CT features of primary tumour and locoregional metastatic lymph nodes (LNs) in breast cancer and to look for potential relationships between several parameters from PET/CT. MATERIAL/METHODS: Twenty-three women (mean age; 48.66±12.23 years) with a diagnosis of primary invasive ductal carcinoma were included. They underwent PET/CT imaging for the initial tumour staging and had no evidence of distant metastates. Patients were divided into two groups...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28104234/knowledge-attitudes-and-perceptions-of-parkinson-s-disease-a-cross-sectional-survey-of-asian-patients
#11
Onanong Jitkritsadakul, Nonglak Boonrod, Roongroj Bhidayasiri
BACKGROUND: A knowledge gap about Parkinson's disease (PD) often exists amongst PD patients, the level and accuracy of which can influence their attitude and perceptions about the disease. Increased awareness of this information deficit can help physicians identify interventions that will improve patient's knowledge and perceptions about PD. OBJECTIVES: To evaluate general understanding of PD and identify knowledge gaps amongst PD patients using a validated PD knowledge questionnaire...
December 29, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28103909/potential-diagnostic-biomarkers-for-chronic-kidney-disease-of-unknown-etiology-ckdu-in-sri-lanka-a-pilot-study
#12
Saravanabavan Sayanthooran, Dhammika N Magana-Arachchi, Lishanthe Gunerathne, Tilak Abeysekera
BACKGROUND: In Sri Lanka, there exists chronic kidney disease of both known (CKD) and unknown etiologies (CKDu). Identification of novel biomarkers that are customized to the specific causative factors would lead to early diagnosis and clearer prognosis of the diseases. This study aimed to find genetic biomarkers in blood to distinguish and identify CKDu from CKD as well as healthy populations from CKDu endemic and non-endemic areas of Sri Lanka. METHODS: The expression patterns of a selected panel of 12 potential genetic biomarkers were analyzed in blood using RT-qPCR...
January 19, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28103890/the-association-between-diabetes-and-dermal-microvascular-dysfunction-non-invasively-assessed-by-laser-doppler-with-local-thermal-hyperemia-a-systematic-review-with-meta-analysis
#13
REVIEW
Dagmar Fuchs, Pepijn P Dupon, Laura A Schaap, Richard Draijer
BACKGROUND/INTRODUCTION: Diabetes and cardiovascular disease develop in concert with metabolic abnormalities mirroring and causing changes in the vasculature, particularly the microcirculation. The microcirculation can be affected in different parts of the body of which the skin is the most easily accessible tissue. PURPOSE: The association between diabetes and dermal microvascular dysfunction has been investigated in observational studies. However, the strength of the association is unknown...
January 19, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28103761/the-everyday-dynamics-of-rumination-and-worry-precipitant-events-and-affective-consequences
#14
Katharina Kircanski, Renee J Thompson, James Sorenson, Lindsey Sherdell, Ian H Gotlib
Rumination and worry are two perseverative, negatively valenced thought processes that characterise depressive and anxiety disorders. Despite significant research interest, little is known about the everyday precipitants and consequences of rumination and worry. Using an experience sampling methodology, we examined and compared rumination and worry with respect to their relations to daily events and affective experience. Participants diagnosed with Major Depressive Disorder (MDD), Generalized Anxiety Disorder (GAD), co-occurring MDD-GAD, or no diagnosis carried an electronic device for one week and reported on rumination, worry, significant events, positive affect (PA), and negative affect (NA)...
January 20, 2017: Cognition & Emotion
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
#15
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/28103458/-uterine-carcinosarcoma-clinicopathological-features-and-prognostic-factors
#16
Rita Luz, Joana Ferreira, Mara Rocha, Ana Francisca Jorge, Ana Félix
INTRODUCTION: Uterine carcinosarcoma is a rare and aggressive biphasic malignancy and is currently included in the high risk endometrial carcinoma group. The aims of this study were to determine the clinicopathological profile, treatment, recurrence/progression patterns, survival and prognostic factors. MATERIAL AND METHODS: Retrospective study of 42 patients, surgically staged and followed-up at a cancer centre, between 2005 and 2013. Clinical data was retrieved from records and pathological characteristics were reviewed for this study...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103424/no-negative-impact-of-serum-igg4-levels-on-clinical-outcome-in-435-patients-with-primary-sclerosing-cholangitis-from-japan
#17
Atsushi Tanaka, Susumu Tazuma, Takahiro Nakazawa, Hiroyuki Isayama, Toshio Tsuyuguchi, Kazuo Inui, Hajime Takikawa
BACKGROUND AND AIMS: Several studies have demonstrated that elevated serum IgG4 levels are associated with poor outcomes of primary sclerosing cholangitis (PSC), but the impact of serum IgG4 levels on PSC remains controversial. In this study, we aimed to determine prognostic factors of patients with PSC and to investigate the association between serum IgG4 levels and the clinical features and prognosis of PSC in a Japanese cohort. METHODS: We retrospectively analysed follow-up data for 435 patients with PSC (UMIN000018438)...
January 19, 2017: Journal of Hepato-biliary-pancreatic Sciences
https://www.readbyqxmd.com/read/28102889/a-population-based-study-examining-injury-in-older-adults-with-and-without-dementia
#18
Lynn B Meuleners, Michelle B Hobday
OBJECTIVES: To estimate the incidence of and risk factors for injuries in older adults with and without dementia. DESIGN: Retrospective, population-based cohort study. SETTING: Western Australian Data Linkage System (WADLS). PARTICIPANTS: Cases included 29,671 (47.9%) older adults aged 50 and older with an index hospital admission for dementia between 2001 and 2011. Comparison participants without dementia included a random sample of 32,277 (52...
January 19, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28102699/tracheostomy-weaning-outcomes-in-relation-to-the-site-of-acquired-brain-injury-a-retrospective-case-series
#19
Kay Mitton, Krystyna Walton, Manoj Sivan
OBJECTIVE: To analyse whether the outcome of tracheostomy weaning is influenced by the site of injury in acquired brain injury. METHODS: A retrospective case review of all the consecutive admissions to an acute neurorehabilitation unit in a 2-year period was performed. Patients with a diagnosis of acquired brain injury and tracheostomy in situ were included in this study. RESULTS: One hundred and six patients were included in the analysis...
January 19, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28102156/quality-of-life-in-pediatric-patients-with-avascular-necrosis-of-the-femoral-head
#20
Luanne Lísle Dos Santos Silva, Marilda Castelar, Marcos Almeida Matos
BACKGROUND: The aim of the present study was to evaluate health-related quality of life in pediatric patients with avascular necrosis of the femoral head. MATERIAL AND METHODS: A comparative study was conducted involving 32 children and adolescents in "ONFH Group" (subjects with a diagnosis of ONFH) and 44 in "Comparison Group" (asymptomatic children), both aged between 8 and 18. Clinical and sociodemographic data were obtained along with PedsQL 4.0 questionnaires to evaluate the quality of life in the age-ranges studied...
October 28, 2016: Ortopedia, Traumatologia, Rehabilitacja
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