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https://www.readbyqxmd.com/read/28806779/a-mutation-in-nischarin-causes-otitis-media-via-limk1-and-nf-%C3%AE%C2%BAb-pathways
#1
Michael Crompton, Tom Purnell, Hayley E Tyrer, Andrew Parker, Greg Ball, Rachel E Hardisty-Hughes, Richard Gale, Debbie Williams, Charlotte H Dean, Michelle M Simon, Ann-Marie Mallon, Sara Wells, Mahmood F Bhutta, Martin J Burton, Hilda Tateossian, Steve D M Brown
Otitis media (OM), inflammation of the middle ear (ME), is a common cause of conductive hearing impairment. Despite the importance of the disease, the aetiology of chronic and recurrent forms of middle ear inflammatory disease remains poorly understood. Studies of the human population suggest that there is a significant genetic component predisposing to the development of chronic OM, although the underlying genes are largely unknown. Using N-ethyl-N-nitrosourea mutagenesis we identified a recessive mouse mutant, edison, that spontaneously develops a conductive hearing loss due to chronic OM...
August 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28806213/maintenance-of-good-visual-acuity-in-best-disease-associated-with-chronic-bilateral-serous-macular-detachment
#2
Sarra Gattoussi, Camiel J F Boon, K Bailey Freund
PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable...
August 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28804784/birinapant-sensitizes-platinum-resistant-carcinomas-with-high-levels-of-ciap-to-carboplatin-therapy
#3
V La, R Fujikawa, D M Janzen, M Nunez, L Bainvoll, L Hwang, K Faull, G Lawson, S Memarzadeh
Platinum drugs are the frontline therapy in many carcinomas, including high-grade serous ovarian cancers. Clinically, high-grade serous carcinomas have an apparent complete response to carboplatin, but tumors invariably recur and response to platinum drugs diminishes over time. Standard of care prohibits re-administration of platinum drugs to these patients who are labeled as having platinum-resistant disease. In this stage patients are treated with non-platinum agents and outcomes are often poor. In vivo and in vitro data presented here demonstrate that this clinical dogma should be challenged...
2017: NPJ Precis Oncol
https://www.readbyqxmd.com/read/28804663/misdiagnosis-of-a-giant-uterine-leiomyosarcoma-clinic-and-image-challenges
#4
Jila Agah, Sedighe Karimzadeh, Fateme Moharrer Ahmadi
A 41-year-old woman (G3P2L2Ab1) was referred to gynecology clinic with chief complaints of abdominal distension and localized abdominal wall pruritus for three months. She was misdiagnosed with gastrointestinal disorder and ultimately had undergone imaging. Ultrasonography and computed tomography (CT) scan disclosed a huge solid-cystic mass originating from the ovary. On clinical examination the patient had no pain or tenderness and no gynecologic complaints. Laboratory tests showed normal tumor markers and hemoglobin at 8 g/dl...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28802188/risk-of-uterine-cancer-for-brca1-and-brca2-mutation-carriers
#5
Y C Lee, R L Milne, S Lheureux, M Friedlander, S A McLachlan, K L Martin, M Q Bernardini, C Smith, S Picken, S Nesci, J L Hopper, K A Phillips
BACKGROUND: Whether BRCA1 and BRCA2 mutation carriers have a clinically relevant elevated risk of uterine cancer has implications for risk-reducing surgery. AIM: This multicentre, prospective cohort study assessed uterine cancer risk for mutation carriers compared with the general population. METHODS: Eligible mutation carriers were enrolled in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) cohort study, had a uterus present and no history of uterine cancer at cohort entry...
August 9, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28800945/impact-of-age-at-diagnosis-on-racial-disparities-in-endometrial-cancer-patients
#6
Christopher M Tarney, Chunqiao Tian, Guisong Wang, Elizabeth A Dubil, Nicholas W Bateman, John K Chan, Mohamed A Elshaikh, Michele L Cote, Joellen M Schildkraut, Craig D Shriver, Thomas P Conrads, Chad A Hamilton, G Larry Maxwell, Kathleen M Darcy
INTRODUCTION: Although black patients with endometrial cancer (EC) have worse survival compared with white patients, the interaction between age/race has not been examined. The primary objective was to evaluate the impact of age at diagnosis on racial disparities in disease presentation and outcome in EC. METHODS: We evaluated women diagnosed with EC between 1991 and 2010 from the Surveillance, Epidemiology, and End Results. Mutation status for TP53 or PTEN, or with the aggressive integrative, transcript-based, or somatic copy number alteration-based molecular subtype were acquired from the Cancer Genome Atlas...
August 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28800944/systematic-review-tumor-associated-antigen-autoantibodies-and-ovarian-cancer-early-detection
#7
REVIEW
Renée Turzanski Fortner, Antje Damms-Machado, Rudolf Kaaks
OBJECTIVES: Tumor-associated autoantibodies (AAbs), produced as an immune response to tumor-associated antigens (TAAs), are a novel pathway of early detection markers. METHODS: We conducted a systematic review on AAbs and ovarian cancer to summarize the diagnostic performance of individual AAbs and AAb panels. A total of 29 studies including 85 AAbs were included; 27 of the studies were conducted in prevalent cases and cancer-free controls and 2 investigations included pre-diagnosis samples...
August 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28800941/survival-and-safety-associated-with-aggressive-surgery-for-stage-iii-iv-epithelial-ovarian-cancer-a-single-institution-observation-study
#8
Shinichi Tate, Kazuyoshi Kato, Kyoko Nishikimi, Ayumu Matsuoka, Makio Shozu
OBJECTIVE: We evaluated the efficacy and safety of aggressive surgery for advanced ovarian cancer at a non-high-volume center. MATERIALS AND METHODS: We evaluated consecutive patients with stage III/IV ovarian, fallopian, and peritoneal cancer undergoing elective aggressive surgery from January 2008 to December 2012, which encompassed the first 5years after implementing an aggressive surgery protocol. After receiving appropriate training for 9months, a gynecological surgical team began performing multi-visceral resections...
August 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28800940/neoadjuvant-chemotherapy-and-chemotherapy-cycle-number-a-national-multicentre-study
#9
Alon D Altman, Jacob McGee, Taymaa May, Kelly Lane, Lin Lu, Wei Xu, Prafull Ghatage, Barry Rosen
OBJECTIVES: Six cycles of consolidation chemotherapy have become the standard for ovarian cancer treatment regimen following primary cytoreduction, yet with neoadjuvant chemotherapy (NAC), only 3 consolidation cycles are used. This study examines the effects of number of chemotherapy cycles in women with ovarian cancer that are being treated with neoadjuvant chemotherapy. In addition, we examined the effect of number of cycles on survival on consolidation and total chemotherapy. METHODS: All patients with stage IIIC and IV high grade serous carcinoma (HGSC) were identified at 4 major Canadian cancer centers treated with NAC...
August 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28800130/mir-130a-upregulates-mtor-pathway-by-targeting-tsc1-and-is-transactivated-by-nf-%C3%AE%C2%BAb-in-high-grade-serous-ovarian-carcinoma
#10
Yuqiong Wang, Xiyu Zhang, Wei Tang, Zhenghong Lin, Limei Xu, Ruifen Dong, Yinuo Li, Jieyin Li, Zaixin Zhang, Xiangzhi Li, Ling Zhao, Jian-Jun Wei, Changshun Shao, Beihua Kong, Zhaojian Liu
Activation of mammalian target of rapamycin (mTOR) signaling pathway is associated with poor prognosis of epithelial ovarian cancer. The TSC1-TSC2 complex is a critical negative regulator of mTOR signaling. Here, we demonstrated that TSC1 was frequently downregulated in high-grade serous ovarian carcinoma (HGSOC) and low TSC1 expression level is associated with advanced tumor stage. We next identified miR-130a to be a negative regulator of TSC1 by targeting its 3'UTR. miR-130a was overexpressed in HGSOC and could drive proliferation and invasion/metastasis of ovarian cancer cells...
August 11, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28800010/cell-polarity-reversal-distinguishes-true-micropapillary-growth-from-retraction-artifact-in-invasive-urothelial-carcinoma
#11
Yiang Hui, Kara A Lombardo, M Ruhul Quddus, Andres Matoso
Focal micropapillary features in invasive urothelial carcinoma is sometimes difficult to distinguish from retraction artifact morphologically. Cell polarity reversal has been demonstrated in micropapillary tumors by epithelial membrane antigen (EMA) immunostaining. We have previously described the use of E-cadherin as a cell polarity marker in ovarian micropapillary serous borderline tumors. The aim of this study was to evaluate the utility of immunohistochemistry for EMA and E-cadherin in differentiating micropapillary urothelial carcinoma from retraction artifact...
August 9, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28798899/diagnosed-a-patient-with-central-serous-chorioretinopathy-now-what-management-of-central-serous-chorioretinopathy
#12
Brian E Goldhagen, Raquel Goldhardt
PURPOSE OF REVIEW WHAT IS THE GOAL OF YOUR PAPER? WHAT QUESTIONS DID YOU SEEK TO ANSWER?: The goal of this paper is to provide a comprehensive review of the management options for central serous chorioretinopathy (CSCR). RECENT FINDINGS SUMMARIZE THE LATEST RESEARCH ON YOUR TOPIC: The majority of cases of acute CSCR may be managed with observation and cessation of corticosteroids, if possible, as well as life-style modifications including stress reduction and control of hypertension...
June 2017: Current Ophthalmology Reports
https://www.readbyqxmd.com/read/28798488/analysis-of-factors-influencing-diagnostic-accuracy-of-t-spot-tb-for-active-tuberculosis-in-clinical-practice
#13
Lifan Zhang, Xiaochun Shi, Yueqiu Zhang, Yao Zhang, Feifei Huo, Baotong Zhou, Guohua Deng, Xiaoqing Liu
T-SPOT.TB didn't perform a perfect diagnosis for active tuberculosis (ATB), and some factors may influence the results. We did this study to evaluate possible factors associated with the sensitivity and specificity of T-SPOT.TB, and the diagnostic parameters under varied conditions. Patients with suspected ATB were enrolled prospectively. Influencing factors of the sensitivity and specificity of T-SPOT.TB were evaluated using logistic regression models. Sensitivity, specificity, predictive values (PV), and likelihood ratios (LR) were calculated with consideration of relevant factors...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797227/changes-in-macular-sensitivity-after-half-dose-photodynamic-therapy-for-chronic-central-serous-chorioretinopathy
#14
Alp Atik, Yijun Hu, Honghua Yu, Chun Yang, Bin Cai, Yijing Tao, Dongli Li, Yan Chen, Li Lu, Guodong Li, Ling Yuan
BACKGROUND: To evaluate the macular sensitivity changes after half-dose photodynamic therapy (PDT) for chronic central serous chorioretinopathy (CSCR). METHODS: Eighteen patients (26 eyes) with chronic CSCR were recruited in the same hospital between April 2011 and December 2012. All patients were treated with one session of half-dose PDT after complete ophthalmic examination. Macular sensitivity examination was performed at baseline and 1, 3 and 6 months post-treatment...
August 10, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28796659/eosinophilic-cells-autoimplants-degree-of-cellular-proliferation-and-adenofibroma-pattern-are-important-histologic-findings-in-ovarian-borderline-tumors
#15
Georgia Karpathiou, Melany Venet, Celine Chauleur, Fressia Honeyman, Francois Casteillo, Michel Peoc'h
Ovarian borderline tumors can show histologic features, such as different degrees of cellular proliferation, eosinophilic cells, autoimplants, and adenofibromatous architecture, the importance of which is not known. The aim of the study was to describe these features and correlate them with clinical characteristics. Eighty-three ovarian borderline tumors were studied for the aforementioned features. These were correlated with clinicopathologic features. Epithelial proliferation was associated with the T stage in serous tumors (P=0...
September 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28795841/serous-carcinoma-mimicking-primary-urothelial-carcinoma-on-clinical-evaluation-and-pathology-a-potential-diagnostic-pitfall
#16
Leili Mirsadraei, Alexey Hodkoff, Karra Jones, Ahmed Shabaik, A Karim Kader, Cheryl C Saenz, Rodolfo Montironi, David E Tacha, Oluwole Fadare, Donna E Hansel
CONTEXT: - Serous carcinoma of the gynecologic tract often involves the external bladder wall and can occasionally mimic primary urothelial carcinoma of the bladder. OBJECTIVE: - To define the spectrum of morphologic and immunohistochemical features that characterize serous carcinoma involving the bladder wall and its distinction from urothelial carcinoma. DESIGN: - We reviewed all cases of serous carcinoma secondarily involving the bladder wall from the University of California San Diego and Polytechnic Institute for histopathologic and immunohistochemical features...
August 10, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28795426/blinded-histopathological-characterisation-of-pole-exonuclease-domain-mutant-endometrial-cancers-sheep-in-wolf-s-clothing
#17
Inge C Van Gool, Jef E H Ubachs, Ellen Stelloo, Cor D de Kroon, Jelle J Goeman, Vincent T H B M Smit, Carien L Creutzberg, Tjalling Bosse
AIMS: POLE exonuclease domain mutations identify a subset of endometrial cancer (EC) patients with an excellent prognosis. Implementation of this biomarker has been suggested to refine adjuvant treatment decisions, but the necessary sequencing is not widely performed and relatively expensive. Therefore, we aimed to identify histopathological and immunohistochemical characteristics to aid the detection of POLE-mutant ECs. METHODS AND RESULTS: Fifty-one POLE-mutant endometrioid, 67 POLE-wild-type endometrioid and 15 POLE-wild-type serous ECs were included (total N=133)...
August 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28794804/brca-mutation-in-ovarian-cancer-testing-implications-and-treatment-considerations
#18
REVIEW
Robert T Neff, Leigha Senter, Ritu Salani
Ovarian cancer is a heterogeneous disease that encompasses a number of different cellular subtypes, the most common of which is high-grade serous ovarian cancer (HGSOC). Still today, ovarian cancer is primarily treated with chemotherapy and surgery. Recent advances in the hereditary understanding of this disease have shown a significant role for the BRCA gene. While only a minority of patients with HGSOC will have a germline BRCA mutation, many others may have tumor genetic aberrations within BRCA or other homologous recombination proteins...
August 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/28793003/complete-axillary-dissection-without-drainage-for-the-surgical-treatment-of-breast-cancer-a-randomized-clinical-trial
#19
Ruffo Freitas-Junior, Luís Fernando Jubé Ribeiro, Marise Amaral Rebouças Moreira, Geraldo Silva Queiroz, Maurício Duarte Esperidião, Marco Aurélio Costa Silva, Rubens José Pereira, Rossana Araújo Catão Zampronha, Rosemar Macedo Sousa Rahal, Leonardo Ribeiro Soares, Danielle Laperche Dos Santos, Maria Virginia Thomazini, Cassiana Ferreira Silva de Faria, Régis Resende Paulinelli
OBJECTIVE: This randomized clinical trial evaluated the possibility of not draining the axilla following axillary dissection. METHODS: The study included 240 breast cancer patients who underwent axillary dissection as part of conservative treatment. The patients were divided into two groups depending on whether or not they were subjected to axillary drainage. ClinicalTrials.gov: NCT01267552. RESULTS: The median volume of fluid aspirated was significantly lower in the axillary drainage group (0...
July 2017: Clinics
https://www.readbyqxmd.com/read/28791695/use-of-antidepressants-and-risk-of-epithelial-ovarian-cancer
#20
Lina S Mørch, Christian Dehlendorff, Louise Baandrup, Søren Friis, Susanne K Kjaer
Antidepressants are widely prescribed among women to treat depression and anxiety disorders, but studies of their effects on gynecological cancer risk are sparse. We assessed associations between various antidepressants and risk of epithelial ovarian cancer. By using Danish nationwide registers, we identified all women (cases) aged 30 to 84 years with incident epithelial (serous, endometrioid, clear cell or mucinous) ovarian cancer during 2000-2011 (n= 4,103) and matched each case to 20 population controls (n=58,706) by risk-set matching...
August 9, 2017: International Journal of Cancer. Journal International du Cancer
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