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https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#1
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28535524/genetics-and-autosomal-dominant-polycystic-kidney-disease-progression
#2
Valentina Corradi, Anna Giuliani, Fiorella Gastaldon, Massimo de Cal, Barbara Mancini, Anna Montaldi, Alberta Alghisi, Irene Capelli, Gaetano La Manna, Claudio Ronco
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, accounting for 10% of European patients on renal replacement therapy. In the previous years, many approaches to slow the progression of ADPKD were studied and many clinical trials published. In addition to having diagnostic role, the description of the genotype is even important to predict the progression of the disease and contributes, combined with several other factors, to a more precise patients classification...
2017: Contributions to Nephrology
https://www.readbyqxmd.com/read/28535404/placental-inflammation-and-its-relationship-to-cervicovaginal-fetal-fibronectin-in-preterm-birth
#3
Laura van der Krogt, Alexandra E Ridout, Paul T Seed, Andrew H Shennan
OBJECTIVE: Late miscarriage and preterm birth are frequently thought to be associated with inflammation and infection, although in most cases the underlying cause of early delivery remains unknown. The placenta is the organ that links mother and fetus during pregnancy, and postnatal examination may provide useful information about pathophysiology. The relationship between placental pathological lesions and predictive markers of early delivery has not been explored. We sought to characterize preterm deliveries according to placental pathology and relate these to the performance of reliable predictive markers, fetal fibronectin and cervical length...
May 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28534693/exploring-the-icf-cy-as-a-framework-to-inform-transition-programs-from-pediatric-to-adult-healthcare
#4
Laura R Hartman, Amy C McPherson, Joanne Maxwell, Sally Lindsay
OBJECTIVE: To explore the utility of the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) for informing transition-related programs for youth with chronic conditions moving into adult healthcare settings, using an exemplar spina bifida program. METHODS: Semi-structured in-depth interviews were conducted with 53 participants (9 youth and 11 parents who participated in a spina bifida transition program, 12 young adults who did not, 12 clinicians, and 9 key informants involved in development/implementation)...
May 23, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28534521/comprehensive-analysis-of-adverse-events-associated-with-per-oral-endoscopic-myotomy-in-1826-patients-an-international-multicenter-study
#5
Yamile Haito-Chavez, Haruhiro Inoue, Kristin W Beard, Peter V Draganov, Michael Ujiki, Burkhard H A Rahden, Pankaj N Desai, Mathieu Pioche, Bu Hayee, Amyn Haji, Payal Saxena, Kevin Reavis, Manabu Onimaru, Valerio Balassone, Jun Nakamura, Yoshitaka Hata, Dennis Yang, Davinderbir Pannu, Ali Abbas, Yaseen B Perbtani, Lava Y Patel, Jorg Filser, Sabine Roman, Jerome Rivory, Francois Mion, Thierry Ponchon, Silvana Perretta, Vivien Wong, Roberta Maselli, Saowanee Ngamruengphong, Yen-I Chen, Majidah Bukhari, Gulara Hajiyeva, Amr Ismail, Renata Pieratti, Vivek Kumbhari, Gerson Galdos-Cardenas, Alessandro Repici, Mouen A Khashab
OBJECTIVES: The safety of peroral endoscopic myotomy (POEM) is still debated since comprehensive analysis of adverse events (AEs) associated with the procedure in large multicenter cohort studies has not been performed. To study (1) the prevalence of AEs and (2) factors associated with occurrence of AEs in patients undergoing POEM. METHODS: Patients who underwent POEM at 12 tertiary-care centers between 2009 and 2015 were included in this case-control study. Cases were defined by the occurrence of any AE related to the POEM procedure...
May 23, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28534367/laparoscopic-hepatectomy-for-colorectal-liver-metastases-located-in-all-segments-of-the-liver
#6
Deqing Wu, Wulin Wu, Yong Li, Shuntian Liang, Junjiang Wang, Xueqing Yao, Zhixiang Jian
PURPOSE: Laparoscopic hepatectomy is not a well-established treatment modality for colorectal liver metastases. Moreover, most reports have been limited to tumors in the anterolateral segments (segments 2, 3, 4b, 5, and 6). We evaluated the short- and long-term outcomes after laparoscopic hepatectomy for colorectal liver metastases located in all segments, including tumors located in the posterosuperior segments (segments 1, 4a, 7, and 8). METHODS: TThis retrospective study included 102 patients who underwent laparoscopic hepatectomy for colorectal liver metastases with radical intent between January 2009 and January 2016...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28534362/the-expression-of-claudin-4-in-gastric-cancer-tissue-a-single-center-experience
#7
Demetrios Moris, Dimitrios Schizas, Adamantios Michalinos, Prodromos Kanavidis, Nikolaos Dimitrokallis, Andreas Alexandrou, Evangelos Misiakos, Theodoros Liakakos
PURPOSE: Gastric cancer (GC) is still one of the most common malignancies with the majority of the tumors diagnosed at advanced stage. The need for identification of prognostic and early detection biomarkers is thus compulsory. Claudins are biomarkers that are currently evaluated in the literature in the frame of epithelial-mesenchymal transition. The purpose of this investigation was to study the expression of claudin-4 in the various histological subtypes of GC and to evaluate its prognostic value...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28534221/measuring-outcomes-in-adult-spinal-deformity-surgery-a-systematic-review-to-identify-current-strengths-weaknesses-and-gaps-in-patient-reported-outcome-measures
#8
REVIEW
Sayf S A Faraj, Miranda L van Hooff, Roderick M Holewijn, David W Polly, Tsjitske M Haanstra, Marinus de Kleuver
PURPOSE: Adult spinal deformity (ASD) causes severe disability, reduces overall quality of life, and results in a substantial societal burden of disease. As healthcare is becoming more value based, and to facilitate global benchmarking, it is critical to identify and standardize patient-reported outcome measures (PROMs). This study aims to identify the current strengths, weaknesses, and gaps in PROMs used for ASD. METHODS: Studies were included following a systematic search in multiple bibliographic databases between 2000 and 2015...
May 22, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28534116/myeloid-neoplasms-with-germ-line-runx1-mutation
#9
REVIEW
Yoshihiro Hayashi, Yuka Harada, Gang Huang, Hironori Harada
Familial platelet disorder with propensity to myeloid malignancies (FPD/AML) is an autosomal dominant disorder characterized by quantitative and/or qualitative platelet defects with a tendency to develop a variety of hematological malignancies. Heterozygous germ line mutations in the RUNX1 gene are responsible genetic events for FPD/AML. Notably, about half of individuals in the family with germ line mutations in RUNX1 develop overt hematological malignancies. The latency is also relatively long as an average age at diagnosis is more than 30 years...
May 22, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28534110/the-impact-of-disability-in-survivors-of-critical-illness
#10
Carol L Hodgson, Andrew A Udy, Michael Bailey, Jonathan Barrett, Rinaldo Bellomo, Tracey Bucknall, Belinda J Gabbe, Alisa M Higgins, Theodore J Iwashyna, Julian Hunt-Smith, Lynne J Murray, Paul S Myles, Jennie Ponsford, David Pilcher, Craig Walker, Meredith Young, D J Cooper
PURPOSE: To use the World Health Organisation's International Classification of Functioning to measure disability following critical illness using patient-reported outcomes. METHODS: A prospective, multicentre cohort study conducted in five metropolitan intensive care units (ICU). Participants were adults who had been admitted to the ICU, received more than 24 h of mechanical ventilation and survived to hospital discharge. The primary outcome was measurement of disability using the World Health Organisation's Disability Assessment Schedule 2...
May 22, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28534080/pathologic-complete-response-rates-after-neoadjuvant-treatment-in-rectal-cancer-an-analysis-of-the-national-cancer-database
#11
Patrick D Lorimer, Benjamin M Motz, Russell C Kirks, Danielle M Boselli, Kendall K Walsh, Roshan S Prabhu, Joshua S Hill, Jonathan C Salo
BACKGROUND: Pathologic complete response (pCR) of rectal cancer following neoadjuvant therapy is associated with decreased local recurrence and increased overall survival. This study utilizes a national dataset to identify predictors of pCR in patients with rectal cancer. METHODS: The National Cancer Database was queried for patients with nonmetastatic rectal cancer (2004-2014) who underwent neoadjuvant therapy and surgical resection. Unadjusted associations were assessed using rank-sum tests and χ (2) tests where appropriate...
May 22, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28534075/comparison-between-different-disease-activity-scores-in-rheumatoid-arthritis-an-egyptian-multicenter-study
#12
M Eissa, A El Shafey, M Hammad
The aim of our work was to assess the performance of different Disease Activity Score (DAS) other than DAS-ESR in daily clinical practice in our Egyptian outpatient clinics and also to evaluate the accuracy of European League Against Rheumatism Classification (EULAR) proposed cutoffs for these scores to stratify Egyptian patients into different categories of disease activity. This study is a cross-sectional Egyptian multicenter study. It included 130 rheumatoid arthritis (RA) patients who visited our Rheumatology and Rehabilitation outpatient and inpatient clinics; 80 patients from Cairo University Hospitals and 50 patients from Zagazig University Hospitals...
May 22, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28534069/imaging-features-of-papillary-renal-cell-carcinoma-with-cystic-change-dominant-appearance-in-the-era-of-the-2016-who-classification
#13
Yukiko Honda, Keisuke Goto, Yuko Nakamura, Hiroaki Terada, Kazuhiro Sentani, Wataru Yasui, Yohei Sekino, Tetsutaro Hayashi, Jun Teishima, Akio Matsubara, Tomoyo Fuji, Yoko Kaichi, Toru Higaki, Yasutaka Baba, Makoto Iida, Kazuo Awai
PURPOSE: Papillary renal cell carcinoma (P-RCC) typically exhibits a homogeneous, solid hypovascular mass; P-RCC with a cystic appearance is atypical. Tubulocystic RCC (TC-RCC), a newly proposed entity for renal tumors in the 2016 WHO classification, and cystic papillary RCC, may yield similar imaging findings. Therefore, we investigated the incidence of papillary RCC with cystic changes and compared its CT and pathologic features to differentiate between two entities. METHODS: We retrospectively evaluated 26 consecutive patients diagnosed with P-RCC...
May 22, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28534063/-the-new-law-on-radiation-protection-as-a-consequence-of-the-eu-safety-standard-of-2013
#14
REVIEW
G Layer
The transformation of a European guideline (2013/59/Euratom) from 2013 into national law requires adaptation of the national statutory regulations. This year, all areas of protection from ionizing radiation will be subject to the new radiation protection law (StrlSchG). Through this, the German X‑ray and Radiation Protection Acts will be combined to form a higher level of authority. The main parts of the StrlSchG will receive a new classification and will be organized according to the exposure scenario: radiation protection in planned exposure scenarios, radiation protection in emergency exposure scenarios, radiation protection in existing exposure scenarios, and the regulation of overall exposure scenarios...
May 22, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28533834/-splenic-marginal-zone-lymphoma
#15
Sinaa Mohamed
Splenic marginal zone lymphoma (SMZL) is a rare B-cell lymphoma, well defined according to the 2016 WHO classification of tumors of the hematopoietic tissue, which can raise diagnostic problems. We report the case of a 72-year old patient, hospitalised for exploration of a massive splenomegaly confirmed by computed tomography (CT). Laboratory tests were normal. The patient underwent splenectomy. Microscopic examination of the surgical specimen showed widespread lymphomatous proliferation in small cells associated with CD20 marker...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#16
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28533006/association-between-preoperative-albumin-levels-and-length-of-stay-after-radical-cystectomy
#17
Rohan G Bhalla, Li Wang, Sam S Chang, Mark D Tyson
PURPOSE: Using contemporary population-based epidemiologic data, we measured the relationship between preoperative serum albumin level and hospital length of stay (LOS) after cystectomy and urinary diversion. MATERIALS & METHODS: Data was acquired from the 2014-2015 National Surgical Quality Improvement Program (NSQIP) database. We identified 1,582 adult patients who underwent a cystectomy between January 1st 2014 and December 31st 2015 and had a documented preoperative serum albumin level...
May 19, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28532995/histological-subtypes-of-hepatocellular-carcinoma-are-related-to-gene-mutations-and-molecular-tumour-classification
#18
Julien Calderaro, Gabrielle Couchy, Sandrine Imbeaud, Giuliana Amaddeo, Eric Letouzé, Jean-Frédéric Blanc, Christophe Laurent, Yacine Hajji, Daniel Azoulay, Paulette Bioulac-Sage, Jean-Charles Nault, Jessica Zucman-Rossi
BACKGROUND AND AIMS: Our increasing understanding of hepatocellular carcinoma (HCC) biology holds promise for personalized care, however its translation into clinical practice requires a precise knowledge of its relationship to tumour phenotype. METHODS: We aimed at investigating molecular-phenotypic correlations in a large series of HCC. To this purpose, 343 surgically resected HCC were investigated by pathological review, immunohistochemistry, gene expression profiling and sequencing...
May 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28532985/upper-limb-and-hand-patterns-in-cerebral-palsy-reliability-of-two-new-classifications
#19
E Chaleat-Valayer, R Bard-Pondarre, J C Bernard, F Roumenoff, A Lucet, A Denis, P Occelli, S Touzet
AIM: To evaluate the inter- and intra-rater reliability of two previously developed classifications of upper limb and hand patterns. METHOD: Two hundred and twelve films of patients with CP (118 of UL postures and 94 of hand tasks; median age 14, 3-46 years) were viewed by 18 examiners from 2 different rehabilitation centers, and one expert who had participated in the design of the classifications. They classed upper limb (3 patterns with sub-types) and hand patterns (2 patterns with subtypes) twice, at 2 months' interval...
May 10, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28532777/predictive-value-of-age-adjusted-charlson-co-morbidity-index-for-1-3-and-5-year-mortality-in-patients-requiring-transcatheter-mitral-valve-repair
#20
Mike Saji, Marc R Katz, Gorav Ailawadi, Dale E Fowler, Michael Ragosta, D Scott Lim
Co-morbidities increase markedly with aging, and they often negatively affect its prognosis. Although mortality with transcatheter mitral valve repair (TMVr) is significantly less than for open mitral valve surgery in patients at high surgical risk, it remains a concern to identify which patients will benefit from this treatment. Some prognostic metrics have been reported to guide better patient selection; however, universal risk stratification measures have not been established. This study aimed to determine if age-adjusted Charlson co-morbidity index (CCI) could predict mortality in patients who underwent TMVr and to assess its discriminatory performance in long-term outcomes...
April 27, 2017: American Journal of Cardiology
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