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https://www.readbyqxmd.com/read/28335035/a-novel-cisd2-mutation-associated-with-a-classical-wolfram-syndrome-phenotype-alters-ca2-homeostasis-and-er-mitochondria-interactions
#1
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu-Wai-Man, Véronique Paquis-Flucklinger
Wolfram syndrome (WS) is progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with Wolfram syndrome type 2 (WFS2). The defining diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, this phenotypic subgroup has been associated with peptic ulcer disease and an increased bleeding tendency...
March 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334858/comparison-between-neoadjuvant-chemotherapy-followed-by-surgery-and-definitive-chemoradiotherapy-for-overall-survival-in-patients-with-clinical-stage-ii-iii-esophageal-squamous-cell-carcinoma-jcog1406-a
#2
Motoo Nomura, Ken Kato, Nobutoshi Ando, Atsushi Ohtsu, Kei Muro, Hiroyasu Igaki, Tetsuya Abe, Hiroya Takeuchi, Hiroyuki Daiko, Masahiro Gotoh, Kozo Kataoka, Masashi Wakabayashi, Yuko Kitagawa
Background: Neoadjuvant chemotherapy followed by surgery (NAC-S) represents the standard treatment for patients with Stage II/III esophageal squamous cell carcinoma (ESCC) in Japan. Chemoradiotherapy (CRT) is performed in patients who refuse or have contraindications to surgery. However, randomized clinical trials that compare NAC-S with CRT have not been conducted. The aim of this study was to explore subgroups of patients undergoing CRT to identify those with survival outcomes potentially equivalent to NAC-S...
March 17, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#3
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334790/multidisciplinarity-in-health-promotion-a-bibliometric-analysis-of-current-research
#4
Thierry Gagné, Josée Lapalme, David V McQueen
Health promotion (HP) is a relatively recent field that stems from, notably, public health, sociology, political science, psychology and education. This multidisciplinarity has contributed to HP's challenged institutionalization. Scholars have so far predominately explored HP's multidisciplinarity using anecdotal approaches, limiting our understanding of the breadth and interplay of the disciplines constituting HP research. The overall aim of this paper is to contribute to a better understanding of HP's multidisciplinarity using a bibliometric approach...
February 20, 2017: Health Promotion International
https://www.readbyqxmd.com/read/28334718/sex-differences-do-not-exist-in-outcomes-among-stroke-patients-with-intracranial-atherosclerosis-in-china-subgroup-analysis-from-the-chinese-intracranial-atherosclerosis-study
#5
Yuehua Pu, Na Wei, Dandan Yu, Yilong Wang, Xinying Zou, Yannie O Y Soo, Yuesong Pan, Thomas W H Leung, Lawrence K S Wong, Yongjun Wang, Liping Liu
BACKGROUND: To date, sex difference in outcomes among patients with intracranial atherosclerosis (ICAS) has rarely been discussed in China as well as in the world. This study aimed to estimate the sex difference in outcomes among patients with ICAS in Chinese cerebral ischemia patients. METHODS: We analyzed 1,335 men and women with ICAS who were enrolled in the Chinese Intracranial Atherosclerosis study. They were followed-up for ischemic stroke recurrence, any cause of death, cerebral vascular events (including transient ischemic attack, ischemic and hemorrhagic stroke), combined end points (including cerebral vascular events, angina or myocardial infarction, pulmonary embolism, peripheral vascular events), and unfavorable outcome (modified Rankin scale score of 3-6) at 1 year...
March 24, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28334705/are-there-breast-cancer-patients-with-node-negative-small-tumours-who-do-not-benefit-from-adjuvant-systemic-therapy
#6
Tanja Stüber, Igor Novopashenny, Joachim Diessner, Catharina Bartmann, Roland Stein, Mathias Krockenberger, Sebastian Häusler, Wolfgang Janni, Rolf Kreienberg, Maria Blettner, Achim Wöckel, Manfred Wischnewsky
OBJECTIVE: To identify subgroups of patients with pT1 pN0 breast cancer (BC) who might not profit from adjuvant systemic therapy (AST). METHODS: Data of 3,774 pT1 pN0 BC patients from 17 certified BC centres within the BRENDA study group were collected between 1992 and 2008 and retrospectively analysed. Uni- and multivariate analyses were performed using Kaplan-Meier methods and Cox regression models. RESULTS: 279 (7.4%) of the pT1 pN0 BC patients were T1a, 944 (25...
March 24, 2017: Oncology
https://www.readbyqxmd.com/read/28334687/neurocognitive-status-in-patients-with-newly-diagnosed-brain-tumors-in-good-neurological-condition-the-impact-of-tumor-type-volume-and-location
#7
Philipp Hendrix, Elisa Hans, Christoph J Griessenauer, Andreas Simgen, Joachim Oertel, Julia Karbach
OBJECTIVE: Neurocognitive function is of great importance in patients with brain tumors. Even patients in good neurological condition may suffer from neurocognitive dysfunction that affects their daily living. The purpose of the present study was to identify risk factors for neurocognitive dysfunction in patients suffering from common supratentorial brain tumors with minor neurological deficits. METHODS: A prospective study evaluating neurocognitive dysfunction in patients with a newly-diagnosed brain tumor in good neurological condition was performed at a major German academic institution...
March 18, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28334637/on-the-non-linear-association-between-serum-uric-acid-levels-and-all-cause-mortality-rate-in-patients-with-type-2-diabetes-mellitus
#8
Olga Lamacchia, Andrea Fontana, Antonio Pacilli, Massimiliano Copetti, Stefania Fariello, Monia Garofolo, Giuseppe Penno, Vincenzo Trischitta, Salvatore De Cosmo, Mauro Cignarelli
BACKGROUND AND AIMS: High levels of serum uric acid (SUA) are associated with increased mortality risk in the general population. Contrasting results are available in people with diabetes. The aim of our study was to investigate the association and its functional form between SUA and all cause-mortality in patients with type 2 diabetes mellitus (T2DM). METHODS: We studied three cohorts of patients with T2DM: Gargano Mortality Study, Foggia Mortality Study, Pisa Mortality Study...
March 9, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28334477/latent-classes-of-alcohol-problems-in-mauritian-men-results-from-the-joint-child-health-project
#9
Susan E Luczak, Carol A Prescott, Peter H Venables
INTRODUCTION AND AIMS: The purpose of this study was to identify latent classes of alcohol problems and their sociodemographic correlates in the east African nation of Mauritius. DESIGN AND METHODS: Participants were from the Joint Child Health Project, a longitudinal study of a 1969-1970 birth cohort of 1795 individuals. In mid-adulthood (M = 37 years), all available participants (n = 1206; 67% of the original cohort) were assessed for demographic characteristics, and lifetime drinkers were assessed for alcohol-related problems...
March 23, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28334430/radiofrequency-ablation-using-a-10-mm-target-margin-for-small-hepatocellular-carcinoma-in-patients-with-liver-cirrhosis-a-prospective-randomized-trial
#10
Mingheng Liao, Xiaofei Zhong, Jingyi Zhang, Yangyang Liu, Zexin Zhu, Hong Wu, Yong Zeng, Jiwei Huang
BACKGROUND AND OBJECTIVES: To compare 3-year clinical outcomes of radiofrequency ablation (RFA) targeting 5- or 10-mm margins for small hepatocellular carcinomas (HCCs) in cirrhotic patients. METHODS: In total, 96 cirrhotic patients with a small solitary HCC (diameter ≤3 cm) were included in this prospective trial (ChiCTRTRC-10000954). Patients were stratified by Child-Pugh class and randomly allocated into groups targeting either wide margins (≥10 mm, WM) or narrow margins (≥5 mm but <10 mm, NM)...
March 23, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28334427/capnography-versus-standard-monitoring-for-emergency-department-procedural-sedation-and-analgesia
#11
REVIEW
Brian F Wall, Kirk Magee, Samuel G Campbell, Peter J Zed
BACKGROUND: Procedural sedation and analgesia (PSA) is used frequently in the emergency department (ED) to facilitate painful procedures and interventions. Capnography, a monitoring modality widely used in operating room and endoscopy suite settings, is being used more frequently in the ED setting with the goal of reducing cardiopulmonary adverse events. As opposed to settings outside the ED, there is currently no consensus on whether the addition of capnography to standard monitoring modalities reduces adverse events in the ED setting...
March 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28334365/effect-of-kit-and-pdgfra-mutations-on-survival-in-patients-with-gastrointestinal-stromal-tumors-treated-with-adjuvant-imatinib-an-exploratory-analysis-of-a-randomized-clinical-trial
#12
Heikki Joensuu, Eva Wardelmann, Harri Sihto, Mikael Eriksson, Kirsten Sundby Hall, Annette Reichardt, Jörg T Hartmann, Daniel Pink, Silke Cameron, Peter Hohenberger, Salah-Eddin Al-Batran, Marcus Schlemmer, Sebastian Bauer, Bengt Nilsson, Raija Kallio, Jouni Junnila, Aki Vehtari, Peter Reichardt
Importance: Little is known about whether the duration of adjuvant imatinib influences the prognostic significance of KIT proto-oncogene receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor α (PDGFRA) mutations. Objective: To investigate the effect of KIT and PDGFRA mutations on recurrence-free survival (RFS) in patients with gastrointestinal stromal tumors (GISTs) treated with surgery and adjuvant imatinib. Design, Setting, and Participants: This exploratory study is based on the Scandinavian Sarcoma Group VIII/Arbeitsgemeinschaft Internistische Onkologie (SSGXVIII/AIO) multicenter clinical trial...
March 23, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28334179/bayesian-distributed-lag-interaction-models-to-identify-perinatal-windows-of-vulnerability-in-children-s-health
#13
Ander Wilson, Yueh-Hsiu Mathilda Chiu, Hsiao-Hsien Leon Hsu, Robert O Wright, Rosalind J Wright, Brent A Coull
Epidemiological research supports an association between maternal exposure to air pollution during pregnancy and adverse children's health outcomes. Advances in exposure assessment and statistics allow for estimation of both critical windows of vulnerability and exposure effect heterogeneity. Simultaneous estimation of windows of vulnerability and effect heterogeneity can be accomplished by fitting a distributed lag model (DLM) stratified by subgroup. However, this can provide an incomplete picture of how effects vary across subgroups because it does not allow for subgroups to have the same window but different within-window effects or to have different windows but the same within-window effect...
February 27, 2017: Biostatistics
https://www.readbyqxmd.com/read/28334165/ctsge-clustering-subgroups-of-expression-data
#14
Michal Sharabi-Schwager, Etti Or, Ron Ophir
Summary: A prerequisite to clustering noisy data, such as gene-expression data, is the filtering step. As an alternative to this step, the ctsGE R-package applies a sorting step in which all of the data are divided into small groups. The groups are divided according to how the time points are related to the time-series median. Then clustering is performed separately on each group. Thus, the clustering is done in two steps. First, an expression index (i.e., a sequence of 1, -1, and 0) is defined and genes with the same index are grouped together, and then each group of genes is clustered by k-means to create subgroups...
March 3, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28334141/distribution-of-antimicrobial-resistance-determinants-virulence-associated-factors-and-crispr-loci-in-isolates-of-enterococcus-faecalis-from-various-settings-and-genetic-lineages
#15
Iwona Gawryszewska, Katarzyna Malinowska, Alicja Kuch, Dorota Chrobak-Chmiel, Lucja Laniewska-Trokenheim, Waleria Hryniewicz, Ewa Sadowy
Enterococcus faecalis represents an important factor of hospital-associated infections (HAIs). The knowledge on its evolution from a commensal to an opportunistic pathogen is still limited, thus we performed a study to characterize distribution of factors that may contribute to this adaptation. Using a collection obtained from various settings (hospitalized patients, community carriers, animals, fresh food, sewage, water) we investigated differences in antimicrobial susceptibility, distribution of antimicrobial resistance genes, virulence-associated determinants and phenotypes, and CRISPR loci in the context of the clonal relatedness of isolates...
March 1, 2017: Pathogens and Disease
https://www.readbyqxmd.com/read/28334029/prognostic-power-of-global-2d-strain-according-to-left-ventricular-ejection-fraction-in-patients-with-st-elevation-myocardial-infarction
#16
Myung-Jin Cha, Hyun-Sook Kim, Seong Hwan Kim, Jae-Hyeong Park, Goo-Yeong Cho
BACKGROUNDS: We aimed to evaluate the predictive power of longitudinal and circumferential fibers according to left ventricular ejection fraction (LVEF) in successfully reperfused acute ST elevation myocardial infarction (STEMI) patients. METHODS: Total 691 patients (age 59±13, 20% female) underwent clinical evaluation and conventional and strain echocardiography (Global longitudinal strain (GLS), global circumferential strain (GCS)). The clinical outcome was defined as the composite of death, hospitalization for heart failure, non-fatal myocardial infarction, and ventricular arrhythmia...
2017: PloS One
https://www.readbyqxmd.com/read/28333936/adenosine-for-postoperative-analgesia-a-systematic-review-and-meta-analysis
#17
Xin Jin, Weidong Mi
PURPOSE: Perioperative infusion of adenosine has been suggested to reduce the requirement for inhalation anesthetics, without causing serious adverse effects in humans. We conducted a meta-analysis of randomized controlled trials evaluating the effect of adenosine on postoperative analgesia. METHODS: We retrieved articles in computerized searches of Scopus, Web of Science, PubMed, EMBASE, and Cochrane Library databases, up to July 2016. We used adenosine, postoperative analgesia, and postoperative pain(s) as key words, with humans, RCT, and CCT as filters...
2017: PloS One
https://www.readbyqxmd.com/read/28333878/one-year-results-of-half-versus-standard-dose-photodynamic-therapy-combined-with-ranibizumab-for-polypoidal-choroidal-vasculopathy
#18
Ian Y Wong, Xuan Shi, Rita Gangwani, Lawrence P Iu, Nicholas Fung, Qing Li, Alex L K Ng, Xiaoxin Li
PURPOSE: To explore the efficacy of half-dose verteporfin photodynamic therapy (hd-PDT) and standard-dose photodynamic therapy (sd-PDT), when combined with ranibizumab in the treatment of polypoidal choroidal vasculopathy. METHODS: Subjects were allocated to either the hd-PDT arm or the sd-PDT arm. All subjects received an injection of ranibizumab and PDT treatment (dosage according to allocation) at baseline. Subjects were followed up monthly for 12 months, and re-treatment were given at each visit if criteria were met...
March 22, 2017: Retina
https://www.readbyqxmd.com/read/28333846/prognostic-value-of-fluorine-18-fluorodeoxyglucose-uptake-of-bone-marrow-on-positron-emission-tomography-computed-tomography-for-prediction-of-disease-progression-in-cervical-cancer
#19
Jeong Won Lee, Seob Jeon, Seong Taek Mun, Sang Mi Lee
OBJECTIVE: This study aimed to evaluate the prognostic value of fluorine-18 fluorodeoxyglucose (FDG) uptake of bone marrow (BM) on positron emission tomography (PET)/computed tomography in patients with uterine cervical cancer. METHODS: One hundred forty-five patients with cervical cancer who underwent staging FDG PET/computed tomography and subsequent surgical resection or chemoradiotherapy were retrospectively enrolled in the study. Mean BM FDG uptake (BM standardized uptake value [SUV]) and BM-to-liver uptake ratio of FDG uptake (BLR) were measured...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28333782/the-normal-adult-human-internal-auditory-canal-a-volumetric-multidetector-computed-tomography-study
#20
Fahad Essbaiheen, Tarek Hegazi, Lorne Rosenbloom
OBJECTIVE: The purpose of this study was to demonstrate that volumetric analysis of multidetector computed tomography (CT) images can be used to calculate the volume of the adult human internal auditory canal (IAC) reproducibly, and to describe the range of normal IAC volumes in the adult population with subgroup analysis of sex, age, and laterality. BACKGROUND: Previous studies of the IAC have typically used measurements in two dimensions or by using casts of cadavers to measure IAC volumes...
March 22, 2017: Otology & Neurotology
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