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https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#1
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528482/evertor-muscle-activity-as-a-predictor-for-recurrence-in-idiopathic-clubfoot
#2
Perajit Eamsobhana, Pipat Kongwachirapaitoon, Kamolporn Kaewpornsawan
BACKGROUND: Clubfoot is a complex three-dimensional deformity. Although brace compliance after initial correction was previously found to be significantly associated with recurrence in clubfoot, few previous studies have specifically examined evertor muscle function as a factor that contributes to recurrence in children with idiopathic and non-idiopathic clubfoot. The aim of this study was to investigate the relationship among brace compliance, evertor muscle grading, and recurrence rate in pediatric clubfoot patients...
May 20, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28528481/consent-an-event-or-a-memory-in-lumbar-spinal-surgery-a-multi-centre-multi-specialty-prospective-study-of-documentation-and-patient-recall-of-consent-content
#3
William B Lo, Ciaran P McAuley, Martin J Gillies, Patrick J Grover, Erlick A C Pereira
STUDY DESIGN: Prospective, multi-centre, multi-specialty medical notes review and patient interview. PURPOSE: The consenting process is an important communication tool which also carries medico-legal implications. While written consent is a pre-requisite before spinal surgery in the UK, the standard and effectiveness of the process have not been assessed previously. This study assesses standard of written consent for elective lumbar decompressive surgery for degenerative disc disease across different regions and specialties in the UK; level of patient recall of the consent content; and identifies factors which affect patient recall...
May 20, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28528434/tall-cell-and-diffuse-sclerosing-variants-of-papillary-thyroid-cancer-outcome-and-predicting-value-of-risk-stratification-methods
#4
M Russo, P Malandrino, M Moleti, F Vermiglio, M A Violi, I Marturano, E Minaldi, R Vigneri, G Pellegriti, C Regalbuto
PURPOSE: Tall cell (TCV) and diffuse sclerosing (DSV) variants are aggressive variants of papillary thyroid cancer (PTC). We compared the risk of recurrent/persistent disease in patients with TCV, DSV and classical PTC (cPTC) and evaluated the prognostic accuracy of initial vs. ongoing risk stratification. METHODS: A consecutive series of DSV (n = 54), TCV (n = 72) and cPTC (n = 184) patients was retrospectively analyzed. TCV and DSV patients were first risk stratified for recurrent/persistent disease without considering the histotype as a risk factor and subsequently, 6-24 months after initial treatment, re-classified on the basis of the response to therapy (ongoing risk stratification)...
May 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#5
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28528066/left-ventricular-myxoma-recurrence-and-risk-of-embolism
#6
Pedro Pérez Díaz, Nuria Muñoz Ruiz, Alfonso Jurado Román
No abstract text is available yet for this article.
June 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28527642/depressive-symptoms-and-perceptions-of-ed-care-in-patients-evaluated-for-acute-coronary-syndrome
#7
Tara St Onge, Donald Edmondson, Emily Cea, Syed Husain, Bernard P Chang
INTRODUCTION: Posttraumatic stress disorder (PTSD) develops in 1 out of 8 survivors of acute coronary syndrome (ACS) events, and these persons have a doubling of risk for recurrent ACS and mortality. Overcrowding in the emergency department during ACS evaluation has been associated with increased risk for PTSD, and depressed patients have been found to be particularly vulnerable. Little is known about the mechanisms by which overcrowding increases PTSD risk in depressed patients. Our aim was to evaluate one possible mechanism, patient perception of crowding and care, in depressed and nondepressed ED patients evaluated for ACS...
May 17, 2017: Journal of Emergency Nursing: JEN: Official Publication of the Emergency Department Nurses Association
https://www.readbyqxmd.com/read/28527420/factors-predictive-of-locoregional-recurrence-following-neoadjuvant-chemotherapy-in-patients-with-large-operable-or-locally-advanced-breast-cancer-an-analysis-of-the-eortc-10994-big-1-00-study
#8
Pauline Gillon, Nathan Touati, Christel Breton-Callu, Leen Slaets, David Cameron, Hervé Bonnefoi
PURPOSE: Identification of clinicopathological factors predicting for a locoregional recurrence (LRR) after neoadjuvant chemotherapy (NAC) could help to decide on the optimal locoregional radiotherapy. The objective of this trial is to identify those factors in the context of a phase III trial (European Organisation for Research and Treatment of Cancer 10994). METHODS: Patients received NAC followed by surgery with or without radiotherapy. Radiotherapy was administered according to pre-specified guidelines...
May 17, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28527240/recurrent-deep-vein-thrombosis-after-the-first-venous-thromboembolism-event-a-single-institution-experience
#9
Mohammad Asim, Hassan Al-Thani, Ayman El-Menyar
BACKGROUND We investigated the frequency, clinical presentation, risk factors, and outcome after the first deep vein thrombosis (DVT) event. MATERIAL AND METHODS A retrospective study was conducted for patients with DVT between 2008 and 2012 with a 1-year follow-up. Patients were divided into 2 groups: single vs. recurrent DVT (RDVT). RESULTS Of the 6420 patients screened for DVT, 662 (10.3%) had DVT. RDVT constituted 22% of cases. A single event was more frequent in left lower limb DVT (p=0.01), while RDVT cases had more bilateral DVT (p=0...
May 20, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28527009/the-simpson-grading-in-meningioma-surgery-does-the-tumor-location-influence-the-prognostic-value
#10
Kira Marie Voß, Dorothee Cäcilia Spille, Cristina Sauerland, Eric Suero Molina, Caroline Brokinkel, Werner Paulus, Walter Stummer, Markus Holling, Astrid Jeibmann, Benjamin Brokinkel
In meningiomas, location-specific differences of the prognostic value of the Simpson classification are sparsely investigated but can influence strategy of surgery. We therefore compared the prognostic value of the Simpson classification in different tumor locations. Progression was compared with Simpson grade in 826 meningioma patients (median age 58 years, female:male ratio 2.4) in location-specific uni- and multivariate analyses. Simpson grade strongly correlated with tumor location (p < .001). Within a median follow-up of 50 months, recurrence was observed in 107 of 803 patients (13%)...
May 19, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28526718/p16-hpv-and-cetuximab-what-is-the-evidence
#11
James A Bonner, Ricard Mesia, Jordi Giralt, Amanda Psyrri, Ulrich Keilholz, David I Rosenthal, Frank Beier, Jeltje Schulten, Jan B Vermorken
Squamous cell carcinoma of the head and neck (SCCHN) is the sixth most common cancer worldwide. It has recently been appreciated that human papillomavirus (HPV) status (or p16 status, which is a frequently used surrogate for HPV status) is prognostic for oropharyngeal SCCHN. Here, we review and contextualize existing p16 and HPV data, focusing on the cetuximab registration trials in previously untreated, locoregionally advanced, nonmetastatic SCCHN (LA SCCHN) and in recurrent and/or metastatic SCCHN (R/M SCCHN): the IMCL-9815 and EXTREME clinical trials, respectively...
May 18, 2017: Oncologist
https://www.readbyqxmd.com/read/28526657/risk-adjusted-adverse-outcomes-in-complex-abdominal-wall-hernia-repair-with-biologic-mesh-a-case-series-of-140-patients
#12
Rifat Latifi, David Samson, Ansab Haider, Asad Azim, Hajira Iftikhar, Bellal Joseph, Elizabeth Tilley, Jorge Con, Saranda Gashi, Ayman El-Menyar
INTRODUCTION: Biologic mesh is preferred for repair of complex abdominal wall hernias (CAWHs) in patients at high risk of wound infection. We aimed to identify predictors of adverse outcomes after complex abdominal wall hernia repair (CAWR) using biologic mesh with different placement techniques and under different surgical settings. METHODS: A retrospective case series study was conducted on all patients who underwent CAWR with biologic mesh between 2010 and 2015 at a tertiary medical center...
May 16, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28526618/24-hour-urine-metabolic-differences-between-solitary-and-multiple-stone-formers-results-of-the-collaboration-on-urolithiasis-in-pediatrics-cup-working-group
#13
Theodore R Saitz, Solange Mongoue-Tchokote, Cynthia Sharadin, Dana W Giel, Sean Corbett, Larisa Kovacevic, Aaron P Bayne
INTRODUCTION: Specific factors associated with the risk of developing pediatric urinary stone disease remain unclear, especially those that may be associated with recurrent stone disease. OBJECTIVE: We compared the results of 24-h urine collections in children with a solitary stone episode to those with multiple stone episodes to determine if there is a difference that may be associated with multiple stone formation in children. STUDY DESIGN: A multi-institutional retrospective analysis was completed to assess 24-h urinary metabolic profiles in children with urolithiasis aged 2-18 years old...
April 20, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28526616/stereotactic-ablative-radiotherapy-in-treatment-of-early-stage-non-small-cell-lung-cancer-unsolved-questions-and-frontiers-ahead
#14
Jingze Zhang, Li Kong, Qinghua Jiao, Minghuan Li, Jingming Yu
Stereotactic ablative radiotherapy (SABR) has been recognized as a standard alternative treatment to surgery for inoperable early stage non-small cell lung cancer (NSCLC). Guaranteed local control rates over 90% makes oncologists wonder whether SABR is qualified enough to challenge surgery in operable patients. The role of SABR for centrally located lesions would be another question because of the increased risk of severe toxic effect. Plenty of studies suggest that optimization of dose regimen and appropriate case selection would be helpful...
May 16, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28526452/gestational-age-at-initiation-of-17-alpha-hydroxyprogesterone-caproate-and-recurrent-preterm-birth
#15
Angela Ning, Catherine J Vladutiu, Sarah K Dotters-Katz, William H Goodnight, Tracy A Manuck
BACKGROUND: Preterm birth (PTB) is the leading cause of neonatal morbidity and mortality in non-anomalous neonates in the US. Women with a previous early spontaneous PTB are at highest risk for recurrence. Weekly intramuscular 17-alpha hydroxyprogesterone caproate (17-OHPC) reduces the risk of recurrent prematurity. Though current guidelines recommend 17-OHPC initiation between 16-20 weeks', in clinical practice, 17-OHPC is started across a spectrum of gestational ages. OBJECTIVE: To examine the relationship between the gestational age at 17-OHPC initiation and recurrent PTB among women a prior spontaneous PTB 16-28 weeks' gestation...
May 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28526168/extended-mesometrial-resection-emmr-surgical-approach-to-the-treatment-of-locally-advanced-cervical-cancer-based-on-the-theory-of-ontogenetic-cancer-fields
#16
Benjamin Wolf, Roman Ganzer, Jens-Uwe Stolzenburg, Bettina Hentschel, Lars-Christian Horn, Michael Höckel
BACKGROUND: Based on ontogenetic-anatomic considerations, we have introduced total mesometrial resection (TMMR) and laterally extended endopelvic resection (LEER) as surgical treatments for patients with cancer of the uterine cervix FIGO stages I B1 - IV A. For a subset of patients with locally advanced disease we have sought to develop an operative strategy characterized by the resection of additional tissue at risk for tumor infiltration as compared to TMMR, but less than in LEER, preserving the urinary bladder function...
May 16, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28525891/identification-of-precision-treatment-strategies-for-relapsed-refractory-multiple-myeloma-by-functional-drug-sensitivity-testing
#17
Muntasir Mamun Majumder, Raija Silvennoinen, Pekka Anttila, David Tamborero, Samuli Eldfors, Bhagwan Yadav, Riikka Karjalainen, Heikki Kuusanmäki, Juha Lievonen, Alun Parsons, Minna Suvela, Esa Jantunen, Kimmo Porkka, Caroline A Heckman
Novel agents have increased survival of multiple myeloma (MM) patients, however high-risk and relapsed/refractory patients remain challenging to treat and their outcome is poor. To identify novel therapies and aid treatment selection for MM, we assessed the ex vivo sensitivity of 50 MM patient samples to 308 approved and investigational drugs. With the results we i) classified patients based on their ex vivo drug response profile; ii) identified and matched potential drug candidates to recurrent cytogenetic alterations; and iii) correlated ex vivo drug sensitivity to patient outcome...
May 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28525830/outpatient-management-of-pulmonary-embolism
#18
REVIEW
P-M Roy, T Moumneh, A Penaloza, O Sanchez
Despite clear potential benefits of outpatient care, most patients suffering from pulmonary embolism (PE) are currently hospitalized due to the fear of possible adverse events. Nevertheless, some teams have increased or envisage to increase outpatient treatment or early discharge. We performed a narrative systematic review of studies published on this topic. We identified three meta-analyses and 23 studies, which involved 3671 patients managed at home (n=3036) or discharged early (n=535). Two main different approaches were applied to select patients eligible for outpatient in recent prospective studies, one based on a list of pragmatic criteria as the HESTIA rule, the other adding severity criteria (i...
May 4, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28525825/what-is-to-blame-for-postnatal-pelvic-floor-dysfunction-in-primiparous-women-pre-pregnancy-or-intrapartum-risk-factors
#19
Constantin M Durnea, Ali S Khashan, Louise C Kenny, Uliana A Durnea, James C Dornan, Suzanne M O'Sullivan, Barry A O'Reilly
BACKGROUND: The aetiology of pelvic floor dysfunction (PFD) is still poorly understood. However childbearing is recognized as a major risk factor. OBJECTIVES: To elucidate the natural history of PFD by investigating the impact of the mode of delivery on postnatal pelvic floor dysfunction in primiparas, when PFD existing before the first pregnancy is taken into consideration. STUDY DESIGN: 4P-study (Prevalence and Predictors of Pelvic floor dysfunction in Primips) is a prospective cohort study, nested within the Screening for Pregnancy Endpoints (SCOPE) study set in a tertiary referral teaching hospital with 9000 deliveries annually...
April 23, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28525796/beneficial-effects-of-training-in-self-distancing-and-perspective-broadening-for-people-with-a-history-of-recurrent-depression
#20
Emma Travers-Hill, Barnaby D Dunn, Laura Hoppitt, Caitlin Hitchcock, Tim Dalgleish
Cognitive training designed to recalibrate maladaptive aspects of cognitive-affective processing associated with the presence of emotional disorder can deliver clinical benefits. This study examined the ability of an integrated training in self-distancing and perspective broadening (SD-PB) with respect to distressing experiences to deliver such benefits in individuals with a history of recurrent depression (≥3 prior episodes), currently in remission. Relative to an overcoming avoidance (OA) control condition, SD-PB: a) reduced distress to upsetting memories and to newly encountered events, both during training when explicitly instructed to apply SD-PB techniques, and after-training in the absence of explicit instructions; b) enhanced capacity to self-distance from and broaden perspectives on participants' experiences; c) reduced residual symptoms of depression...
May 11, 2017: Behaviour Research and Therapy
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