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https://www.readbyqxmd.com/read/29342063/low-prevalence-of-hip-and-knee-arthritis-in-active-marathon-runners
#1
Danielle Y Ponzio, Usman Ali M Syed, Kelly Purcell, Alexus M Cooper, Mitchell Maltenfort, Julie Shaner, Antonia F Chen
BACKGROUND: Existing evidence on whether marathon running contributes to hip and knee arthritis is inconclusive. Our aim was to describe hip and knee health in active marathon runners, including the prevalence of pain, arthritis, and arthroplasty, and associated risk factors. METHODS: A hip and knee health survey was distributed internationally to marathon runners. Active marathoners who completed ≥5 marathons and were currently running a minimum of 10 miles per week were included (n = 675)...
January 17, 2018: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/29342053/gradual-symmetric-progression-of-dfna34-hearing-loss-caused-by-an-nlrp3-mutation-and-cochlear-autoinflammation
#2
Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, Julie A Muskett, H Jeffrey Kim, Carmen C Brewer, Andrew J Griffith
OBJECTIVE: To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3 encodes a critical component of the NLRP3 inflammasome that is activated in innate immune responses. STUDY DESIGN: This study was conducted under protocol 01-DC-0229 approved by the NIH Combined Neurosciences IRB. We performed medical and developmental history interviews and physical and audiological examinations of affected individuals with DFNA34 HL caused by the p...
January 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29341947/spontaneous-direct-carotid-cavernous-fistula-in-an-elderly-patient
#3
Stanimir S Sirakov, Borislav D Kitov, Kristina S Sirakova, Ivo I Kehayov
We describe the case of an 83-year-old woman with left-sided ophthalmoplegia. She had no family history of connective tissue disease. The computed tomography study found a dilated left cavernous sinus. The conventional cerebral panangiography confirmed the diagnosis - a direct carotid-cavernous fistula (CCF), with no evidence of ruptured aneurysm. The woman underwent endovascular treatment with coiling of the cavernous sinus in combination with application of the Onyx embolic agent in the fistula. During the first 48 hours after the embolization the local pain, exophthalmos and conjunctival injection of the left eye were significantly ameliorated...
December 20, 2017: Folia Medica
https://www.readbyqxmd.com/read/29341936/rheumatic-manifestations-among-cancer-patients-treated-with-immune-checkpoint-inhibitors
#4
REVIEW
Merav Lidar, Eitan Giat, Daniela Garelick, Yuval Horowitz, Howard Amital, Yael Steinberg-Silman, Jacob Shachter, Ronnie Shapira-Frommer, Gal Markel
BACKGROUND: The use of immune checkpoint inhibitors (ICI) has grown incessantly since they were first approved in 2014. These monoclonal antibodies inhibit T cell activation, yielding a dramatic tumor response with improved survival. However, immunotherapy is frequently hampered by immune adverse events (iAE) such as hypophysitis, colitis, hepatitis, pneumonitis and rash. Until recently, rheumatic side effects were only infrequently reported. Aim To describe the rheumatic manifestations encountered among patients treated with ICIs in a large tertiary cancer center in Israel METHODS: The cancer center's patient registry was screened for patients who had ever been treated with ipilimumab, pembrolizumab and/or nivolumab with relevant data gathered from clinical charts...
January 13, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29341851/underutilization-of-supplemental-magnetic-resonance-imaging-screening-among-patients-at-high-breast-cancer-risk
#5
Randy Miles, Fei Wan, Tracy L Onega, Amanda Lenderink-Carpenter, Ellen S O'Meara, Weiwei Zhu, Louise M Henderson, Jennifer S Haas, Deirdre A Hill, Anna N A Tosteson, Karen J Wernli, Jennifer Alford-Teaster, Janie M Lee, Constance D Lehman, Christoph I Lee
BACKGROUND: Women at high lifetime breast cancer risk may benefit from supplemental breast magnetic resonance imaging (MRI) screening, in addition to routine mammography screening for earlier cancer detection. MATERIALS AND METHODS: We performed a cross-sectional study of 422,406 women undergoing routine mammography screening across 86 Breast Cancer Surveillance Consortium (BCSC) facilities during calendar year 2012. We determined availability and use of on-site screening breast MRI services based on woman-level characteristics, including >20% lifetime absolute risk using the National Cancer Institute risk assessment tool...
January 17, 2018: Journal of Women's Health
https://www.readbyqxmd.com/read/29341459/multicenter-study-of-diagnostic-procedures-genetic-aberration-analysis-and-first-line-treatment-of-lung-cancer-in-jiangsu-province-china
#6
YangBo Hu, Huan Hu, LiYun Miao, Xin Zhao, Wei Gu, Wei Heng, ZiLi Meng, Jian Feng, Yi You, XingXiang Xu, Rong Hu, HaiQuan Li, Jie Zhao, XiaoLi Zhu, MeiQi Shi, Li Shen, XiuWei Zhang, XiaoWei Yin, Hang Ma, MinHua Shi, Yong Yu, Hong Lv, LiMing Cai, GaoHua Feng, YeQing Zhang, Feng Wu, TangFeng Lv, Yong Song
BACKGROUND: Jiangsu Province, China, is highly developed economically and culturally, and has a high prevalence of lung cancer. We aimed to evaluate the diagnostic procedures, genetic aberration analysis status, and first-line treatment models of lung cancer in Jiangsu Province. METHODS: Lung cancer patients diagnosed in 2016 at 22 tertiary care hospitals were evaluated. Demographic characteristics, tumor histology, staging, family history of lung cancer, auxiliary examinations, genetic testing, and first-line treatment were collected on discharge...
January 17, 2018: Thoracic Cancer
https://www.readbyqxmd.com/read/29341452/contribution-of-mlh1-constitutional-methylation-for-lynch-syndrome-diagnosis-in-patients-with-tumor-mlh1-downregulation
#7
Diana Pinto, Carla Pinto, Joana Guerra, Manuela Pinheiro, Rui Santos, Hege Marie Vedeld, Zeremariam Yohannes, Ana Peixoto, Catarina Santos, Pedro Pinto, Paula Lopes, Ragnhild Lothe, Guro Elisabeth Lind, Rui Henrique, Manuel R Teixeira
Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p...
January 17, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29340581/gene-turnover-and-diversification-of-the-%C3%AE-and-%C3%AE-globin-gene-families-in-sauropsid-vertebrates
#8
Federico G Hoffmann, Michael W Vandewege, Jay F Storz, Juan C Opazo
The genes that encode the α- and β-chain subunits of vertebrate hemoglobin have served as a model system for elucidating general principles of gene family evolution, but little is known about patterns of evolution in amniotes other than mammals and birds. Here we report a comparative genomic analysis of the α- and β-globin gene clusters in sauropsids (archosaurs and nonavian reptiles). The objectives were to characterize changes in the size and membership composition of the α- and β-globin gene families within and among the major sauropsid lineages, to reconstruct the evolutionary history of the sauropsid α- and β-globin genes, to resolve orthologous relationships, and to reconstruct evolutionary changes in the developmental regulation of gene expression...
January 11, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29340577/lactation-duration-and-progression-to-diabetes-in-women-across-the-childbearing-years-the-30-year-cardia-study
#9
Erica P Gunderson, Cora E Lewis, Ying Lin, Mike Sorel, Myron Gross, Stephen Sidney, David R Jacobs, James M Shikany, Charles P Quesenberry
Importance: Lactation duration has shown weak protective associations with incident diabetes (3%-15% lower incidence per year of lactation) in older women based solely on self-report of diabetes, studies initiated beyond the reproductive period are vulnerable to unmeasured confounding or reverse causation from antecedent biochemical risk status, perinatal outcomes, and behaviors across the childbearing years. Objective: To evaluate the association between lactation and progression to diabetes using biochemical testing both before and after pregnancy and accounting for prepregnancy cardiometabolic measures, gestational diabetes (GD), and lifestyle behaviors...
January 16, 2018: JAMA Internal Medicine
https://www.readbyqxmd.com/read/29340169/autoimmune-retinopathy-a-review
#10
REVIEW
Aristófanes Mendonça Canamary, Walter Yukihiko Takahashi, Juliana Maria Ferraz Sallum
Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the retina. It may be related to history of autoimmune disease in the patient or in a family member or the presence of neoplastic disease in the individual. The disease may be subdivided into paraneoplastic and non-paraneoplastic AIR. When related to melanoma, it is referred to as MAR, and when related to other cancers, it is called CAR. The exact prevalence of AIR is unknown...
2018: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29339498/mafa-missense-mutation-causes-familial-insulinomatosis-and-diabetes-mellitus
#11
Donato Iacovazzo, Sarah E Flanagan, Emily Walker, Rosana Quezado, Fernando Antonio de Sousa Barros, Richard Caswell, Matthew B Johnson, Matthew Wakeling, Michael Brändle, Min Guo, Mary N Dang, Plamena Gabrovska, Bruno Niederle, Emanuel Christ, Stefan Jenni, Bence Sipos, Maike Nieser, Andrea Frilling, Ketan Dhatariya, Philippe Chanson, Wouter W de Herder, Björn Konukiewitz, Günter Klöppel, Roland Stein, Márta Korbonits, Sian Ellard
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29339358/family-history-of-cancer-and-risk-of-biliary-tract-cancers-results-from-the-biliary-tract-cancers-pooling-project
#12
Alison L Van Dyke, Margaret S Langhamer, Bin Zhu, Ruth M Pfeiffer, Demetrius Albanes, Gabriella Andreotti, Laura E Beane Freeman, Andrew T Chan, Neal D Freedman, Susan M Gapstur, Graham G Giles, Francine Grodstein, Linda M Liao, Juhua Luo, Roger L Milne, Kristine R Monroe, Marian L Neuhouser, Jenny N Poynter, Mark P Purdue, Kim Robien, Catherine Schairer, Rashmi Sinha, Stephanie J Weinstein, Xuehong Zhang, Jessica L Petrick, Katherine A McGlynn, Peter T Campbell, Jill Koshiol
BACKGROUND: Although some familial cancer syndromes include biliary tract cancers (BTCs) (cancers of the gallbladder, intrahepatic and extrahepatic bile ducts, and ampulla of Vater), the few studies that have examined the relationships between family history of cancer (FHC) and BTCs have reported inconclusive findings. The objective of this study was to investigate the associations of FHC with risk of BTC in the Biliary Tract Cancers Pooling Project (BiTCaPP). METHODS: We used Cox proportional hazards regressions models to estimate HRs and 95% confidence intervals for associations between FHC (any, 1st degree, in female relative, in male relative, relative with gastrointestinal cancer, and relative with hormonally-related cancer) and BTC risk by anatomic site within the biliary tract, adjusting for sex and race/ethnicity...
January 16, 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29339357/family-history-and-risk-of-second-primary-breast-cancer-after-in-situ-breast-carcinoma
#13
Michelle L Baglia, Mei-Tzu C Tang, Kathleen E Malone, Peggy Porter, Christopher I Li
BACKGROUND: Incidence rates of in situ breast carcinomas have increased due to widespread adoption of mammography. Very little is known about why some women with in situ breast cancer later develop second primary breast cancers. METHODS: In this population-based nested case-control study among in situ breast cancer survivors, including 539 cases with a second primary breast cancer and 994 matched controls, we evaluated the association between first degree family history of breast cancer and risk of developing a second primary breast cancer...
January 16, 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29339309/late-chronotype-is-associated-with-enhanced-amygdala-reactivity-and-reduced-fronto-limbic-functional-connectivity-to-fearful-versus-happy-facial-expressions
#14
Charlotte Mary Horne, Ray Norbury
Increasing evidence suggests late chronotype individuals are at increased risk of developing depression. However, the underlying neural mechanisms that confer risk are not fully understood. Here, fifty healthy, right-handed individuals without a current or previous diagnosis of depression, family history of depression or sleep disorder underwent functional magnetic resonance imaging (FMRI). Participants completed an implicit emotion processing task (gender discrimination) including happy and fearful facial expressions...
January 12, 2018: NeuroImage
https://www.readbyqxmd.com/read/29338973/asthma-copd-overlap-a-portuguese-survey
#15
E Padrão, D Araújo, A Todo Bom, C Robalo Cordeiro, J Correia de Sousa, J Cardoso, M Morais-Almeida, R Costa, F Pavão, R B Leite, A Marques
INTRODUCTION: The overlap between asthma and chronic obstructive pulmonary disease (COPD) (ACO) has been discussed for many years but clinical recommendations for this entity have been diverse. This study is intended to reach a consensus on diagnosis, treatment and patient orientation for ACO, within the Portuguese medical community. METHODS: This study was conducted by a multidisciplinary panel of experts from three distinct medical specialties (Pulmonology, Family Medicine and Immunoallergology)...
January 12, 2018: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/29338966/family-history-of-venous-thromboembolism-predicts-the-diagnosis-of-acute-pulmonary-embolism-in-the-emergency-department
#16
Christopher Kelly, Chad Agy, Margaret Carlson, Jacob Steenblik, Joseph Bledsoe, Stephen Hartsell, Troy Madsen
BACKGROUND: Pulmonary embolism (PE) clinical decision rules do not consider a patient's family history of venous thromboembolism (VTE). We evaluated whether a family history of VTE predicts acute PE in the emergency department (ED). METHODS: Over a 5.5-year study period, we enrolled a prospective convenience sample of patients presenting to an academic emergency department with chest pain and/or shortness of breath. We defined a family history of VTE as a first-degree relative with previous PE or deep vein thrombosis (DVT)...
January 6, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29338965/quality-of-life-and-clinical-characterization-of-patients-with-vernal-keratoconjunctivitis-in-a-pediatric-population-in-colombia
#17
C M Gómez-Henao, C I Herrera-Morales, R Ramírez-Giraldo, R Cardona-Villa
Vernal keratoconjunctivitis is one of the most serious ocular allergies that have the potential to induce large ocular morbidity and significant visual changes affecting the quality of life of these individuals. METHODOLOGY: This study was conducted in two phases. The first phase consisted of the clinical characterization of 32 patients from the Clinical Allergology center of the I.P.S. Universitaria from July 2014 to February 2015. A retrospective analysis of medical records was performed...
January 12, 2018: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/29338606/utility-of-mean-sphered-cell-volume-and-mean-reticulocyte-volume-for-the-diagnosis-of-hereditary-spherocytosis
#18
Rahul Darshan Arora, Jasmita Dass, Seema Maydeo, Vandana Arya, Jyoti Kotwal, Manorama Bhargava
INTRODUCTION: Hereditary spherocytosis (HS) is the most common congenital hemolytic anemia, characterized by anemia, jaundice, and splenomegaly. The diagnosis of HS relies on symptoms of hemolysis, a family history of HS, and a positive laboratory test which is usually the osmotic fragility test (OFT). We conducted a study to assess the utility of mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), mean sphered cell volume (MSCV), and mean reticulocyte volume (MRV) in the diagnosis of HS and if these are helpful in distinguishing cases of HS from immune hemolytic anemia...
January 16, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29338155/association-between-caregiver-exposure-to-toxics-during-pregnancy-and-childhood-onset-asthma-a-case-control-study
#19
Souheil Hallit, Chantal Raherison, Mirna Waked, Pascale Salameh
The aim of this study was to evaluate the associations between caregiver-reported use of medications, alcohol, cigarette and/or waterpipe (WP), and exposure to pesticides/detergents during pregnancy with childhood-onset asthma. The study design consisted of a case-control study, conducted between December 2015 and April 2016, recruited 1503 children, aged between 3-16 years old. A questionnaire assessed the sociodemographic characteristics (age, gender, education level of both parents), the family history of asthma, and other known risk factors of asthma (heating system at home, child history of recurrent otitis, humidity in the house, child went to a daycare, smoking and drinking alcohol during pregnancy, exposure to pesticides and detergents)...
December 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29338058/menstrual-and-reproductive-factors-and-risk-of-breast-cancer-a-case-control-study-in-the-fez-region-morocco
#20
Mohamed Khalis, Barbara Charbotel, Véronique Chajès, Sabina Rinaldi, Aurélie Moskal, Carine Biessy, Laure Dossus, Inge Huybrechts, Emmanuel Fort, Nawfel Mellas, Samira Elfakir, Hafida Charaka, Chakib Nejjari, Isabelle Romieu, Karima El Rhazi
BACKGROUND: Breast cancer is the most common cancer in women worldwide. In the Moroccan context, the role of well-known reproductive factors in breast cancer remains poorly documented. The aim of this study was to explore the relationship between menstrual and reproductive factors and breast cancer risk in Moroccan women in the Fez region. METHODS: A case-control study was conducted at the Hassan II University Hospital of Fez between January 2014 and April 2015...
2018: PloS One
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