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Cancer syndrome

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https://www.readbyqxmd.com/read/29352954/unexpected-findings-in-a-patient-with-cancer-of-unknown-primary-syndrome
#1
Christoph Lübbert, Babett Holler
No abstract text is available yet for this article.
January 17, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29351919/high-yield-of-pathogenic-germline-mutations-causative-or-likely-causative-of-the-cancer-phenotype-in-selected-children-with-cancer
#2
Illja Diets, Esmé Waanders, Marjolijn J L Ligtenberg, Diede van Bladel, Eveline J Kamping, Peter M Hoogerbrugge, Saskia Hopman, Maran J W Olderode-Berends, Erica H Gerkes, David Koolen, Carlo Marcelis, Gijs We Santen, Martine van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto-van Silfhout, Thatjana Gardeitchik, E S J M de Bont, Jan Loeffen, Anja Wagner, Arjen R Mensenkamp, Roland P Kuiper, Nicoline Hoogerbrugge, Marjolijn Jongmans
PURPOSE: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole exome sequencing on a selected cohort of children with cancer. EXPERIMENTAL DESIGN: To identify mutations in known and novel cancer predisposing genes, we performed trio-based whole exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer or (4) an adult type of cancer...
January 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29351803/psychometric-properties-and-measurement-equivalence-of-the-multidimensional-fatigue-syndrome-inventory-short-form-mfsi-sf-amongst-breast-cancer-and-lymphoma-patients-in-singapore
#3
Alexandre Chan, Claire Lew, Xiao Jun Wang, Terence Ng, Jung-Woo Chae, Hui Ling Yeo, Maung Shwe, Yan Xiang Gan
BACKGROUND: Currently, several fatigue measurement instruments are available to evaluate and measure cancer-related fatigue. Amongst them, Multidimensional Fatigue Syndrome Inventory-Short Form (MFSI-SF) is a self-reported instrument and a multidimensional scale that aims to capture the global, somatic, affective, cognitive and behavioural symptoms of fatigue. This study examines the psychometric properties and measurement equivalence of the English and Chinese versions of MFSI-SF in breast cancer and lymphoma patients in Singapore...
January 19, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29350713/hyponatremia-and-siadh-a-case-study-for-nursing-consideration
#4
Teri Tasler, Susan D Bruce
The leading cause of hyponatremia in patients with cancer is syndrome of inappropriate antidiuretic hormone secretion (SIADH); this oncologic emergency requires immediate intervention. Left untreated, it can result in increased mortality and morbidity. A sodium level less than 135 meq/L is an electrolyte irregularity and defined as hyponatremia. It is extremely critical that oncology nurses are knowledgeable and able to evaluate and determine when patients are in fluid and electrolyte crisis. Nurses should be aware of the specific cancers and treatments that put patients at risk for developing hyponatremia...
February 1, 2018: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29350696/cancer-anorexia-and-cachexia-screening-in-an-ambulatory-infusion-service-and-nutrition-consultation%C3%A2
#5
Donna L Berry, Traci Blonquist, Manan M Nayak, Kristin Roper, Nancy Hilton, Heidi Lombard, Allison Hester, Anne Chiavacci, Stephanie Meyers, Katherine McManus
BACKGROUND: Cancer anorexia-cachexia syndrome compromises physical function and nutritional and emotional well-being. Systematic screening followed by nutrition referral for appropriate interventions is rare.
. OBJECTIVES: The purpose of this study was to pilot a screening process followed by nutritional assessment and intervention when warranted for patients with lung malignancies.
. METHODS: Adult patients with lung malignancies were invited to complete the 12-item Anorexia/Cachexia Scale (A/CS-12) on the day of chemotherapy initiation in ambulatory infusion...
February 1, 2018: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29348988/anal-squamous-cell-carcinoma-in-a-patient-with-myasthenia-gravis-is-immunosuppression-the-main-underlying-etiology
#6
Muhammad Masab, Muhammad W Saif
Patients who are immunocompromised by diseases such as human immunodeficiency virus (HIV) infection are more prone to develop some malignancies such as Kaposi's sarcoma and central nervous system (CNS) lymphomas. Historically, anal squamous cell carcinoma (SCC) was also included on the list as an acquired immunodeficiency syndrome (AIDs)-defining cancer.  Similarly, compromised immune disorders including severe immunosuppression, haematologic malignancies, and solid organ transplantation have been identified as important risk factors for the development of anal SCC...
November 15, 2017: Curēus
https://www.readbyqxmd.com/read/29348693/variants-in-members-of-the-cadherin-catenin-complex-cdh1-and-ctnnd1-cause-blepharocheilodontic-syndrome
#7
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex...
January 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29348659/blm-helicase-suppresses-recombination-at-g-quadruplex-motifs-in-transcribed-genes
#8
Niek van Wietmarschen, Sarra Merzouk, Nancy Halsema, Diana C J Spierings, Victor Guryev, Peter M Lansdorp
Bloom syndrome is a cancer predisposition disorder caused by mutations in the BLM helicase gene. Cells from persons with Bloom syndrome exhibit striking genomic instability characterized by excessive sister chromatid exchange events (SCEs). We applied single-cell DNA template strand sequencing (Strand-seq) to map the genomic locations of SCEs. Our results show that in the absence of BLM, SCEs in human and murine cells do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of guanine quadruplex (G4) motifs in transcribed genes...
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29348630/expression-of-inflammasome-proteins-and-inflammasome-activation-occurs-in-human-but-not-in-murine-keratinocytes
#9
Jennifer Sand, Eric Haertel, Thomas Biedermann, Emmanuel Contassot, Ernst Reichmann, Lars E French, Sabine Werner, Hans-Dietmar Beer
Inflammasomes are multimeric protein complexes that assemble upon sensing of a variety of stress factors. Their formation results in caspase-1-mediated activation and secretion of the pro-inflammatory cytokines pro-interleukin(IL)-1β and -18, which induce an inflammatory response. Inflammation is supported by a lytic form of cell death, termed pyroptosis. Innate immune cells, such as macrophages or dendritic cells, express and activate inflammasomes. However, it has also been demonstrated that human primary keratinocytes activate different types of inflammasomes in vitro, for example, upon UVB irradiation or viral infection...
January 18, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29348428/evaluation-of-quantitative-parameters-for-distinguishing-pheochromocytoma-from-other-adrenal-tumors
#10
Youichi Ohno, Masakatsu Sone, Daisuke Taura, Toshinari Yamasaki, Katsutoshi Kojima, Kyoko Honda-Kohmo, Yorihide Fukuda, Koji Matsuo, Toshihito Fujii, Akihiro Yasoda, Osamu Ogawa, Nobuya Inagaki
Adrenal tumors are increasingly found incidentally during imaging examinations. It is important to distinguish pheochromocytomas from other adrenal tumors because of the risk of hypertensive crisis. Although catecholamines and their metabolites are generally used to diagnose pheochromocytoma, false-positive test results are common. An effective screening method to distinguish pheochromocytoma from adrenal incidentalomas is needed. We analyzed 297 consecutive patients with adrenal incidentalomas. Our findings included 162 non-functioning tumors, 47 aldosterone-producing adenomas, 26 metastases, 22 cases of subclinical Cushing's syndrome, 21 pheochromocytomas, 12 cases of Cushing's syndrome, and 7 adrenocortical cancers...
January 18, 2018: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/29348307/non-mammalian-models-of-multiple-endocrine-neoplasia-type-2
#11
REVIEW
Tirtha K Das, Ross L Cagan
Twenty-five years ago, RET was identified as the primary driver of multiple endocrine neoplasia type 2 (MEN2) syndrome. MEN2 is characterized by several transformation events including pheochromocytoma, parathyroid adenoma and, especially penetrant, medullary thyroid carcinoma (MTC). Overall, MTC is a rare but aggressive type of thyroid cancer for which no effective treatment currently exists. Surgery, radiation, radioisotope treatment and chemotherapeutics have all shown limited success, and none of these approaches have proven durable in advanced disease...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29347911/micrornas-associated-with-early-neural-crest-development-in-xenopus-laevis
#12
Nicole J Ward, Darrell Green, Janet Higgins, Tamas Dalmay, Andrea Münsterberg, Simon Moxon, Grant N Wheeler
BACKGROUND: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Several well-studied gene regulatory networks underpin NC development, which when disrupted can lead to various neurocristopathies such as craniofrontonasal dysplasia, DiGeorge syndrome and some forms of cancer...
January 18, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29346655/does-the-additional-component-of-calf-circumference-refine-metabolic-syndrome-in-correlating-with-cardiovascular-risk
#13
Chen-Jung Wu, Tung-Wei Kao, Yaw-Wen Chang, Tao-Chun Peng, Li-Wei Wu, Hui-Fang Yang, Wei-Liang Chen
Context: Calf circumference (CC) was a useful anthropometric tool, but there was limited study on the effect of CC on metabolic syndrome (MetS) for cardiovascular risk. Objective: The objective of our study was to determine whether additional component of CC refined MetS in correlating with cardiovascular, all-cause and cancer mortality. Design, Setting, Patients, and Interventions: From the 1999-2002 NHANES dataset, we analyzed four types of MetS: WaistMetS (increased waist circumference and ≥ two of four MetS components), CalfMetS (decreased CC and ≥ two of four MetS components), WCRMetS (increased waist-to-calf ratio and ≥ two of four MetS components), and CC plus MetS (decreased CC and ≥ three of five MetS components)...
January 15, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29345684/msh6-and-pms2-germ-line-pathogenic-variants-implicated-in-lynch-syndrome-are-associated-with-breast-cancer
#14
Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung
PurposeAn association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.MethodsWe conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data)...
January 18, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29345160/inherited-forms-of-bladder-cancer-a-review-of-lynch-syndrome-and-other-inherited-conditions
#15
Aaron Phelan, Antonio Lopez-Beltran, Rodolfo Montironi, Shaobo Zhang, Maria R Raspollini, Monica Cheng, Hristos Z Kaimakliotis, Michael O Koch, Liang Cheng
Environmental factors that play a role in the urothelial carcinogenesis have been well characterized. Current research is continuously exploring potential heritable forms of bladder cancer. Lynch syndrome is a well-known inheritable disease that increases the risk for a variety of cancers, including urothelial carcinomas. Screening of patients with known Lynch syndrome is important to evaluate for development of new primary tumors. Further study may provide more information on what level of follow-up each patient needs...
January 18, 2018: Future Oncology
https://www.readbyqxmd.com/read/29344385/improving-attendance-to-genetic-counselling-services-for-gynaecological-oncology-patients
#16
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
Background: Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patients diagnosed with ovarian or endometrial cancer from Gynaecologic-oncology multidisciplinary meetings who were deemed appropriate for genetics assessment...
2018: Gynecologic Oncology Research and Practice
https://www.readbyqxmd.com/read/29344250/prevention-of-body-weight-loss-and-sarcopenia-by-a-novel-selective-androgen-receptor-modulator-in-cancer-cachexia-models
#17
Megumi Morimoto, Katsuji Aikawa, Takahito Hara, Masuo Yamaoka
Cancer cachexia is a syndrome that impairs the quality of life and overall survival of patients, and thus the effectiveness of anticancer agents. There are no effective therapies for cancer cachexia due to the complexity of the syndrome, and insufficient knowledge of its pathogenesis results in difficulty establishing appropriate animal models. Previously, promising results have been obtained in clinical trials using novel agents including the ghrelin receptor agonist anamorelin, and the selective androgen receptor modulator (SARM) enobosarm to treat cachexia in patients with cancer...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29344107/managing-hyponatremia-in-lung-cancer-latest-evidence-and-clinical-implications
#18
REVIEW
Ilaria Fiordoliva, Tania Meletani, Maria Giuditta Baleani, Silvia Rinaldi, Agnese Savini, Marzia Di Pietro Paolo, Rossana Berardi
Hyponatremia is the most common electrolyte disorder in lung cancer patients. This condition may be related to many causes including incidental medications, concurrent diseases and side effects of antineoplastic treatments or the disease itself. Although not frequently life-threatening, it is usually associated with prolonged hospitalization, delays in scheduled chemotherapy, worsening of patient performance status and quality of life and may also negatively affect treatment response and survival. Most of the available data focus on thoracic tumors, especially small-cell lung cancer (SCLC), where hyponatremia is frequently related to the syndrome of inappropriate secretion of antidiuretic hormone (SIADH)...
November 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/29343809/interaction-of-smoking-and-metabolic-syndrome-in-increasing-the-recurrence-risk-of-colorectal-cancer-in-a-chinese-male-cohort-a-retrospective-study
#19
Da-Zhi Chen, Fei-Yang Ji, Qiao-Mai Xu, Xiao-Xin Wu, Chao Cai, Ling-Jian Zhang, Lan-Juan Li
Whether smoking and metabolic syndrome (MetS) can affect colorectal carcinoma (CRC) prognosis remains debatable. Therefore, the present study aimed to examine the individual and combined effects of smoking and MetS on the prognosis of patients with localized CRC, including stage I to III disease. The relationship among smoking status, MetS, and CRC was assessed in 838 Chinese male patients. Cox proportional hazards regression analysis was used to evaluate CRC prognosis adjusted for clinicopathological variables...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#20
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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