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Disease prediction review

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https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#1
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28634685/poor-predictive-value-of-positive-interim-fdg-pet-ct-in-primary-mediastinal-large-b-cell-lymphoma
#2
Julien Lazarovici, Marie Terroir, Julia Arfi-Rouche, Jean-Marie Michot, Sacha Mussot, Valentina Florea, Maria-Rosa Ghigna, Peggy Dartigues, Cynthia Petrovanu, Alina Danu, Christophe Fermé, Vincent Ribrag, David Ghez
PURPOSE: Though commonly used to assess response to therapy, the prognostic value of interim FDG-PET/CT in Primary Mediastinal Large B-cell Lymphoma (PMBCL) is unclear. METHODS: We conducted a retrospective study on 36 consecutive patients treated at our institution for a PMBCL between 2006 and 2014. All patients with a positive interim FDG-PET/CT had undergone histological restaging consisting either in a surgical debulking of the residual lesion (15 patients) or a CT-guided core needle biopsy (two patients)...
June 21, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28634671/venous-thromboembolism-is-an-independent-predictor-of-mortality-among-patients-with-gastric-cancer
#3
Harry E Fuentes, D M Oramas, L H Paz, Y Wang, X A Andrade, A J Tafur
BACKGROUND: Venous thromboembolism (VTE) is an independent predictor of death among patients with cancer. Patients with gastric cancer (GC) are at higher risk for VTE when compared to other solid tumors, and if one considers its prevalence, GC may be responsible for one of the highest incidences of cancer-associated thrombosis. The impact of VTE on mortality is not well defined among patients with GC. AIM: The aim of this study is to measure the impact of VTE as independent predictor of GC mortality...
June 21, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28634502/impact-of-neurological-follow-up-on-early-hospital-readmission-rates-for-acute-ischemic-stroke
#4
Alexander Allen, Todd Barron, Ashley Mo, Richard Tangel, Ruth Linde, Rodney Grim, John Mingle, Ellen Deibert
INTRODUCTION: Despite advances in stroke care, readmission rates for patients with ischemic stroke remain high. Although factors such as age, diabetes, and continuous use of antiplatelet agents have been found to predict readmission rates, the impact of after-hospital care has not been examined. METHODS: The present study reviewed the charts of 416 patients with acute ischemic stroke and recorded stroke-related comorbidities, neurology follow-up within 21 days, readmission at 0 to 30 days, readmission at 31 to 90 days, and any reasons for readmission...
July 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28631441/genetic-landscape-and-deregulated-pathways-in-b-cell-lymphoid-malignancies
#5
R Rosenquist, S Beà, M-Q Du, B Nadel, Q Pan-Hammarström
With the introduction of next-generation sequencing, the genetic landscape of the complex group of B-cell lymphoid malignancies has rapidly been unravelled in recent years. This has provided important information about recurrent genetic events and identified key pathways deregulated in each lymphoma subtype. In parallel, there has been intense search and development of novel types of targeted therapy that 'hit' central mechanisms in lymphoma pathobiology, such as BTK, PI3K or BCL2 inhibitors. In this review, we will outline the current view of the genetic landscape of selected entities: follicular lymphoma, diffuse large B-cell lymphoma, mantle cell lymphoma, chronic lymphocytic leukaemia and marginal zone lymphoma...
June 20, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28631048/celiac-disease-from-etiological-factors-to-evolving-diagnostic-approaches
#6
REVIEW
Anantdeep Kaur, Olga Shimoni, Michael Wallach
Celiac disease has advanced from a medical rarity to a highly prevalent disorder. Patients with the disease show varying degrees of chronic inflammation within the small intestine due to an aberrant immune response to the digestion of gliadin found in wheat. As a result, cytokines and antibodies are produced in celiac patients that can be used as specific biomarkers for developing diagnostic tests. This review paper describes celiac disease in terms of its etiological cause, pathological effects, current diagnostic tests based on mucosal biopsy, and the genetic basis for the disease...
June 19, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28630647/patterns-of-psychiatric-admissions-and-predictors-of-patient-s-outcome-in-jimma-university-teaching-and-referral-hospital-a-retrospective-study
#7
Sinan Tadesse, Abraham Tamirat Gizaw, Getachew Kirose Abraha, Lakew Abebe Gebretsadik
BACKGROUND: Psychiatric morbidity burden accounts 12.45% of the disease admission burden in Ethiopia; only two referral hospitals are found to manage all cases. The aim of this study is to assess the predictors of patient outcomes. METHOD: A 3 years retrospective patients' cards, charts and medical notes review in psychiatry case admission department of Jimma university teaching and training specialised hospital was conducted. All the admitted cases included in this study...
2017: International Journal of Mental Health Systems
https://www.readbyqxmd.com/read/28630229/observing-clonal-dynamics-across-spatiotemporal-axes-a-prelude-to-quantitative-fitness-models-for-cancer
#8
Andrew W McPherson, Fong Chun Chan, Sohrab P Shah
The ability to accurately model evolutionary dynamics in cancer would allow for prediction of progression and response to therapy. As a prelude to quantitative understanding of evolutionary dynamics, researchers must gather observations of in vivo tumor evolution. High-throughput genome sequencing now provides the means to profile the mutational content of evolving tumor clones from patient biopsies. Together with the development of models of tumor evolution, reconstructing evolutionary histories of individual tumors generates hypotheses about the dynamics of evolution that produced the observed clones...
June 19, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28629386/strain-elastography-imaging-for-early-detection-and-prediction-of-tumor-response-to-concurrent-chemo-radiotherapy-in-locally-advanced-cervical-cancer-feasibility-study
#9
Yan Xu, Lijing Zhu, Baorui Liu, Tong Ru, Huanhuan Wang, Jian He, Song Liu, Xiaofeng Yang, Zhengyang Zhou, Tian Liu
BACKGROUND: To investigate the feasibility of strain elastography imaging in early detecting and predicting treatment response in patients receiving concurrent chemo-radiotherapy (CCRT) for locally advanced cervical cancer. METHODS: Between January 2015 and June 2016, 47 patients with locally advanced cervical cancer were enrolled in a feasibility study approved by the institutional review board. All patients underwent CCRT and received strain elastography examinations at 4 time points: pre-therapy (baseline), 1 week and 2 weeks during, as well as immediately post CCRT...
June 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28629385/administrative-algorithms-to-identify-avascular-necrosis-of-bone-among-patients-undergoing-upper-or-lower-extremity-magnetic-resonance-imaging-a-validation-study
#10
Medha Barbhaiya, Yan Dong, Jeffrey A Sparks, Elena Losina, Karen H Costenbader, Jeffrey N Katz
BACKGROUND: Studies of the epidemiology and outcomes of avascular necrosis (AVN) require accurate case-finding methods. The aim of this study was to evaluate performance characteristics of a claims-based algorithm designed to identify AVN cases in administrative data. METHODS: Using a centralized patient registry from a US academic medical center, we identified all adults aged ≥18 years who underwent magnetic resonance imaging (MRI) of an upper/lower extremity joint during the 1...
June 19, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28629350/the-utility-of-the-hematoxylin-and-eosin-staining-in-patients-with-suspected-hirschsprung-disease
#11
Josephine Amanda Setiadi, Andi Dwihantoro, Kristy Iskandar, Didik Setyo Heriyanto, Gunadi
BACKGROUND: While immunohistochemistry (IHC) methods have been widely conducted for the diagnosis of Hirschsprung disease (HSCR) in developed countries, there are very few studies on their use in developing countries where hematoxylin and eosin (HE) staining is a key element of the diagnosis of HSCR. We aimed to determine the accuracy of HE staining in the diagnosis of HSCR using S100 IHC as the reference standard in Indonesia. METHODS: All histopathology performed for the suspicion of HSCR patients from January 2013 to August 2015 in Dr...
June 19, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28628497/predicting-short-term-and-long-term-mortality-of-hospitalized-portuguese-patients-with-alcoholic-hepatitis
#12
Samuel R Fernandes, Pedro Marques da Costa, Sofia Vítor, Joana R Carvalho, Patrícia Santos, Carlos M Moura, Helena Cortez-Pinto, Fernando Ramalho, José Velosa
BACKGROUND: Alcohol abuse can result in a spectrum of liver injury that ranges from mild fatty infiltration to alcoholic hepatitis (AH), cirrhosis, and hepatocellular carcinoma. The present study aimed to evaluate current scoring systems in predicting short-term and long-term mortality because of AH. PATIENTS AND METHODS: Records of 170 consecutive patients with AH admitted to a tertiary center between January 2005 and October 2015 were reviewed. Clinical and biochemical parameters were retrieved for the assessment of AH scores for the day of admission (D1) and for the seventh day of hospitalization (D7)...
June 16, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28628465/cardiopulmonary-involvement-in-takayasu-s-arteritis
#13
David N Brennan, Kenneth J Warrington, Cynthia S Crowson, Jean Schmidt, Matthew J Koster
OBJECTIVES: To evaluate cardiopulmonary (CP) involvement in patients with Takayasu's arteritis (TAK) and assess the impact on disease outcomes. METHODS: A retrospective cohort of patients with newly diagnosed TAK from 1984 to 2009 was assembled. Demographics, baseline disease characteristics, relapse events, surgeries and mortality were abstracted from direct medical record review. Angiograms, advanced imaging and cardiac studies were reviewed for evidence of CP involvement...
June 12, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28628227/microrna-mediated-drug-resistance-in-ovarian-cancer
#14
REVIEW
Aynaz Mihanfar, Amir Fattahi, Hamid Reza Nejabati
The development of intrinsic or acquired resistance to chemotherapeutic agents used in the treatment of various human cancers is a major obstacle for the successful abolishment of cancer. The accumulated efforts in the understanding the exact mechanisms of development of multidrug resistance (MDR) have led to the introduction of several unique and common mechanisms. Recent studies demonstrate the regulatory role of small noncoding RNA or miRNA in the several parts of cancer biology. Practically all aspects of cell physiology under normal and disease conditions are reported to be controlled by miRNAs...
June 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28627953/role-of-diffusion-weighted-imaging-in-head-and-neck-lesions-pictorial-review
#15
Neeraj Bhatt, Nishant Gupta, Neetu Soni, Kusum Hooda, Joshua M Sapire, Yogesh Kumar
Head and neck cancers are very common worldwide, causing significant morbidity and mortality. Squamous cell carcinoma originating from the epithelial lining of the upper aerodigestive tract is the most common histology. Many patients with head and neck cancers present with advanced stage disease requiring aggressive treatment consisting of extensive surgery and chemo-radiation. Appropriate treatment planning as well as prognosis of tumors depends to a large extent on accurate histological diagnosis and differentiation of malignant from benign lesions...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28627523/pulse-wave-analysis-and-diabetes-mellitus-a-systematic-review
#16
Jaromira Gajdova, David Karasek, Dominika Goldmannova, Ondrej Krystynik, Jan Schovanek, Helena Vaverkova, Josef Zadrazil
Cardiovascular (CV) disease is the primary cause of death in diabetic patients and one of the explanations may be increased arterial stiffness. Arterial stiffness assessment using pulse wave analysis, is a predictive factor of CV events. The aim of this paper is to review the current knowledge of relations between diabetes mellitus and pulse wave analysis. A MEDLINE search was performed to retrieve both original and review articles addressing the relations and influences on arterial stiffness in diabetics. Pulse wave analysis is considered as a gold standard in CV risk evaluation for patients at risk, especially diabetics...
June 5, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28627094/-spectrum-of-hepatitis-b-and-renal-involvement
#17
Apurva S Shah, Deepak N Amarapurkar
Renal involvement in hepatitis B occurs in various spectrums and its knowledge is important for clinicians in management of patients. The renal diseases most commonly associated with hepatitis B virus (HBV) infection include membranous nephropathy, membranoproliferative glomerulonephritis, and Polyarteritis nodosa. The widespread use of hepatitis B vaccination has decreased the incidence of HBV-related renal diseases. The incidence of HBV infection in dialysis patients has significantly decreased over the past few decades due to screening of blood products for hepatitis B surface antigen (HBsAg) and hepatitis B core antibody, implementation of infection control measures and hepatitis B vaccination...
June 19, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28626861/diphenylcyclopropenone-for-the-treatment-of-cutaneous-in-transit-melanoma-metastases-results-of-a-prospective-non-randomised-single-centre-study
#18
T Read, S Webber, J Tan, M Wagels, H Schaider, H P Soyer, B M Smithers
BACKGROUND: Current treatments for in-transit melanoma (ITM) metastases are frequently invasive and do not improve overall survival. Recently there has been increasing investigation into the use of topical agents for ITM. Diphenylcyclopropenone or diphencyprone (DPCP) is a novel, topical agent that has been reported to have immune-sensitising properties useful in the treatment of ITM. OBJECTIVE: To assess the clinical outcomes of patients treated within a prospective, non-randomised, non-comparative study using DPCP for cutaneous in-transit melanoma metastases...
June 19, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28626366/current-developments-in-mobilization-of-hematopoietic-stem-and-progenitor-cells-and-their-interaction-with-niches-in-bone-marrow
#19
REVIEW
Rudolf Richter, Wolfgang Forssmann, Reinhard Henschler
The clinical application of hematopoietic stem and progenitor cells (HSPCs) has evolved from a highly experimental stage in the 1980s to a currently clinically established treatment for more than 20,000 patients annually who suffer from hematological malignancies and other severe diseases. Studies in numerous murine models have demonstrated that HSPCs reside in distinct niches within the bone marrow environment. Whereas transplanted HSPCs travel through the bloodstream and home to sites of hematopoiesis, HSPCs can be mobilized from these niches into the blood either physiologically or induced by pharmaceutical drugs...
June 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28626361/molecular-biomarkers-of-colorectal-cancer-and-cancer-disparities-current-status-and-perspective
#20
Upender Manne, Trafina Jadhav, Balananda-Dhurjati Kumar Putcha, Temesgen Samuel, Shivani Soni, Chandrakumar Shanmugam, Esther A Suswam
This review provides updates on the efforts for the development of prognostic and predictive markers in colorectal cancer based on the race/ethnicity of patients. Since the clinical consequences of genetic and molecular alterations differ with patient race and ethnicity, the usefulness of these molecular alterations as biomarkers needs to be evaluated in different racial/ethnic groups. To accomplish personalized patient care, a combined analysis of multiple molecular alterations in DNA, RNA, microRNAs (miRNAs), metabolites, and proteins in a single test is required to assess disease status in a precise way...
December 2016: Current Colorectal Cancer Reports
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