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https://www.readbyqxmd.com/read/28933175/-hiv-infection-a-new-disease-of-internal-medicine
#1
Svatava Snopková
Modern antiretroviral treatment belongs to the greatest success of current medicine. HIV infection has gone from a death sentence to a manageable chronic disease which develops several decades. Thanks to treatment advances, people with HIV can and do live long and full lives. In the last two decades, the incidence AIDS defining illnesses have been dramatically reduced especially opportunistic infections and malignancies, whereas the role of non-infection comorbidities has risen than age-matched HIV uninfected adults...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28933000/evaluation-of-current-prediction-models-for-lynch-syndrome-updating-the-premm5-model-to-identify-pms2-mutation-carriers
#2
A Goverde, M C W Spaander, D Nieboer, A M W van den Ouweland, W N M Dinjens, H J Dubbink, C J Tops, S W Ten Broeke, M J Bruno, R M W Hofstra, E W Steyerberg, A Wagner
Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and PREMM5. The area under the operator receiving characteristic curve (AUC) was compared between MMRpredict and PREMM5 for LS patients in general and for different LS genes specifically. Of 734 index patients, 83 (11%) were diagnosed with LS; 23 MLH1, 17 MSH2, 31 MSH6 and 12 PMS2 mutation carriers...
September 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28932927/screening-for-germline-mutations-in-mismatch-repair-genes-in-patients-with-lynch-syndrome-by-next-generation-sequencing
#3
Barbara Luísa Soares, Ayslan Castro Brant, Renan Gomes, Tatiane Pastor, Naye Balzan Schneider, Ândrea Ribeiro-Dos-Santos, Paulo Pimentel de Assumpção, Maria Isabel W Achatz, Patrícia Ashton-Prolla, Miguel Angelo Martins Moreira
Lynch syndrome (LS) is an autosomal dominant disorder, with high penetrance that affects approximately 3% of the cases of colorectal cancer. Affected individuals inherit germline mutations in genes responsible for DNA mismatch repair, mainly at MSH2, MLH1, MSH6 and PMS2. The molecular screening of these individuals is frequently costly and time consuming due to the large size of these genes. In addition, PMS2 mutation detection is often a challenge because there are 16 different pseudogenes identified until now...
September 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28932769/microrna-expression-in-a-phosphaturic-mesenchymal-tumour
#4
Darrell Green, Irina Mohorianu, Isabelle Piec, Jeremy Turner, Clare Beadsmoore, Andoni Toms, Richard Ball, John Nolan, Iain McNamara, Tamas Dalmay, William D Fraser
Phosphaturic mesenchymal tumours are a heterogeneous set of bone and soft tissue neoplasms that can cause a number of paraneoplastic syndromes such as tumour induced osteomalacia. The term phosphaturic comes from the common finding that these tumours secrete high levels of fibroblast growth factor 23 which causes renal phosphate wasting leading to hypophosphatemia. Phosphaturic mesenchymal tumours are rare and diagnosis is difficult. A very active 68 year old male presented with bone pain and muscle weakness...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/28932724/colorectal-perforation-after-anorectal-manometry-for-low-anterior-resection-syndrome
#5
Kyung Ha Lee, Ji Yeon Kim, Young Hoon Sul
We experienced 3 cases of manometry-induced colon perforation. A 75-year-old man (case 1) underwent anorectal manometry (ARM) 3 years after radiotherapy for prostate cancer and a laparoscopic intersphincteric resection for rectal cancer. A 70-year-old man (case 2) underwent ARM 3 months after conventional neoadjuvant chemoradiotherapy and a laparoscopic low anterior resection for rectal cancer. A 78-year-old man (case 3) underwent ARM 2 months after a laparoscopic intersphincteric resection for rectal cancer...
August 2017: Annals of Coloproctology
https://www.readbyqxmd.com/read/28932510/noninvasive-ventilation-during-acute-respiratory-distress-syndrome-in-patients-with-cancer-what-really-matters
#6
EDITORIAL
Gunther Hempel, David Petroff, Hermann Wrigge
No abstract text is available yet for this article.
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28932224/shrimp-mir-10a-is-co-opted-by-white-spot-syndrome-virus-to-increase-viral-gene-expression-and-viral-replication
#7
Jiun-Yan Huang, Shih-Ting Kang, I-Tung Chen, Li-Kwan Chang, Shih-Shun Lin, Guang-Hsiung Kou, Chia-Ying Chu, Chu-Fang Lo
Members of the microRNA miR-10 family are highly conserved and play many important roles in diverse biological mechanisms, including immune-related responses and cancer-related processes in certain types of cancer. In this study, we found the most highly upregulated shrimp microRNA from Penaeus vannamei during white spot syndrome virus (WSSV) infection was miR-10a. After confirming the expression level of miR-10a by northern blot and quantitative RT-PCR, an in vivo experiment showed that the viral copy number was decreased in miR-10a-inhibited shrimp...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28932175/radiotherapy-for-a-breast-cancer-patient-with-schnitzler-syndrome-report-of-acute-toxicity-and-early-follow-up
#8
Samir Abdallah Hanna, Ana Luisa Garcia Calich, Artur Katz, Isidio Calich, Gustavo Gibin Duarte, José Luiz Barbosa Bevilacqua
This article provides description about acute toxicity and early follow-up of one patient treated for breast cancer and Schnitzler syndrome. There are no previously reported cases exploring this interaction on medical literature. The expected radiodermitis to occur in the region treated with radiotherapy along with urticarial-like lesions might be challenging in view of the interaction between symptoms and therapeutic measures.
November 2017: Reports of Practical Oncology and Radiotherapy
https://www.readbyqxmd.com/read/28931682/susceptibility-of-human-endogenous-retrovirus-type-k-to-reverse-transcriptase-inhibitors
#9
Rafael A Contreras-Galindo, Derek Dube, Koh Fujinaga, Mark H Kaplan, David M Markovitz
Human Endogenous Retroviruses make up 8% of the human genome. The HERV-K HML-2 (HK2) family contains proviruses that are the most recent entrants into the human germline and are transcriptionally active. In HIV-1 infection and cancer, HK2 genes produce retroviral particles that appear to be infectious, yet the replication capacity of these viruses and potential pathogenicity has been difficult to ascertain. In this report, we screened the efficacy of commercially available reverse transcriptase inhibitors (RTIs) at inhibiting the enzymatic activity of the HK2 RT and HK2 genomic replication...
September 20, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28931560/ret-mediated-modulation-of-tumour-microenvironment-and-immune-response-in-men2
#10
Maria Domenica Castellone, Rosa Marina Melillo
Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC). In a large fraction of sporadic cases, and virtually in all inherited cases of MTC, activating point mutations of the RET proto-oncogene are found. RET encodes for a receptor tyrosine kinase protein endowed with transforming potential on thyroid parafollicular cells...
September 20, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#11
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28931294/-carney-triad
#12
L Fiala, I Kocáková, R Šimůnek, E Krejčí, I Babánková, R Šefr
Carney triad is a synchronous or metachronous association of gastric gastrointestinal stromal tumors (GIST), pulmonary chondroma and extra-adrenal paraganglioma. The majority of patients have only one or two components of the triad, all three tumors being found in only about 2% of the patients at the time of the first diagnosis. The most common combination is gastric and pulmonary tumors. We report a case of Carney triad which was diagnosed at Masaryk Memorial Cancer Institute. A 57-year-old female patient with a history of gastric resection for leiomyosarcoma at the age of 14 and with an unclear pulmonary lesion evident on chest X-ray since as early as 2003...
2017: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/28930984/high-fat-diet-feeding-and-high-throughput-triacylglyceride-assay-in-drosophila-melanogaster
#13
Soda Balla Diop, Ryan T Birse, Rolf Bodmer
Heart disease is the number one cause of human death worldwide. Numerous studies have shown strong connections between obesity and cardiac malfunction in humans, but more tools and research efforts are needed to better elucidate the mechanisms involved. For over a century, the genetically highly tractable model of Drosophila has been instrumental in the discovery of key genes and molecular pathways that proved to be highly conserved across species. Many biological processes and disease mechanisms are functionally conserved in the fly, such as development (e...
September 13, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28930817/cronkhite-canada-syndrome-associated-with-colon-cancer-metastatic-to-liver-a-case-report
#14
Jing Wang, Lei Zhao, Nina Ma, Juanjuan Che, Huihui Li, Bangwei Cao
RATIONALE: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Although malignant colon and gastric cancer have been reported in CCS, reports of distant metastasis have been rare in CCS...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#15
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28930539/transcriptional-regulation-of-p57-kip2-expression-during-development-differentiation-and-disease
#16
Marianna N Rossi, Oriella Andresini, Francesca Matteini, Rossella Maione
p57(kip2) is the most complex member of the CIP/KIP family of cyclin-dependent kinase inhibitors and plays a fundamental role in regulating cell cycle and differentiation during mammalian development. Consistently with a key role for p57(kip2) in the spatial and temporal control of cell proliferation, its expression is fine-tuned by multiple regulatory mechanisms, resulting in a tissue-, developmental phase- and cell type-specific pattern. Moreover, p57(kip2) is an imprinted gene, further supporting the importance of its proper expression dosage...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930164/liver-cancer-molecular-characterization-clonal-evolution-and-cancer-stem-cells
#17
REVIEW
Germana Castelli, Elvira Pelosi, Ugo Testa
Liver cancer is the second most common cause of cancer-related death. The major forms of primary liver cancer are hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (iCCA). Both these tumors develop against a background of cirrhotic liver, non-alcoholic fatty liver disease, chronic liver damage and fibrosis. HCC is a heterogeneous disease which usually develops within liver cirrhosis related to various etiologies: hepatitis B virus (HBV) infection (frequent in Asia and Africa), hepatitis C virus (HCV), chronic alcohol abuse, or metabolic syndrome (frequent in Western countries)...
September 20, 2017: Cancers
https://www.readbyqxmd.com/read/28929227/genetic-predisposition-in-children-with-cancer-affected-families-acceptance-of-trio-wes
#18
Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen
A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS...
September 19, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28928994/foxe1-mutation-screening-in-a-case-with-cleft-lip-hypothyroidism-and-thyroid-carcinoma-a-new-syndrome
#19
Hugo Mendieta-Zerón, Angélica Jiménez-Rosales, Carlos Jhovani Pérez-Amado, Silvia Jiménez-Morales
A 26-year-old woman is referred to the Internal Medicine consultation due to increases in laboratory studies associated with Papillary Thyroid Carcinoma (PTC) that was confirmed by histopathological studies. Her clinical history revealed that, at 3 months of age, she was successfully treated with surgery for cleft lip (CL) and at the age of 24 years was diagnosed with hypothyroidism. Single nucleotide polymorphisms (SNPs) in FOXE1 and its promoter regions have been associated with various etiologies related to the thyroid, including orofacial clefting, specially cleft palate (CP) and CL, hypothyroidism (HT), and thyroid cancer...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28928419/the-histone-deacetylase-sirt6-blocks-myostatin-expression-and-development-of-muscle-atrophy
#20
Sadhana A Samant, Abhinav Kanwal, Vinodkumar B Pillai, Riyue Bao, Mahesh P Gupta
Muscle wasting, also known as cachexia, is associated with many chronic diseases, which worsens prognosis of primary illness leading to enhanced mortality. Molecular basis of this metabolic syndrome is not yet completely understood. SIRT6 is a chromatin-bound member of the sirtuin family, implicated in regulating many cellular processes, ranging from metabolism, DNA repair to aging. SIRT6 knockout (SIRT6-KO) mice display loss of muscle, fat and bone density, typical characteristics of cachexia. Here we report that SIRT6 depletion in cardiac as well as skeletal muscle cells promotes myostatin (Mstn) expression...
September 19, 2017: Scientific Reports
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