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https://www.readbyqxmd.com/read/29770149/diffuse-gastric-ganglioneuromatosis-novel-presentation-of-pten-hamartoma-syndrome-case-report-and-review-of-gastric-ganglioneuromatous-proliferations-and-a-novel-pten-gene-mutation
#1
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29761045/porcine-rotavirus-c-in-pigs-with-gastroenteritis-on-thai-swine-farms-2011-2016
#2
Supansa Tuanthap, Cherdpong Phupolphan, Supol Luengyosluechakul, Ausanee Duang-In, Apiradee Theamboonlers, Suphot Wattanaphansak, Sompong Vongpunsawad, Alongkorn Amonsin, Yong Poovorawan
Swine are economically important food animals, but highly contagious porcine epidemic diarrhea virus (PEDV) and rotavirus can afflict pig herds and contribute significantly to piglet morbidity and mortality. While there have been studies on rotavirus group A (RVA) in Thailand, reports of rotavirus group C (RVC) are limited. Here, we aimed to identify the prevalence of RVC circulating on Thai commercial swine farms. We analyzed 769 feces and intestine mucosal contents of pigs affected with diarrhea between 2011 and 2016 using RT-PCR specific for the PEDV spike (S), rotavirus glycoprotein (G) VP7, and protease-sensitive protein (P) VP4 genes...
2018: PeerJ
https://www.readbyqxmd.com/read/29684080/unexpected-cancer-predisposition-gene-variants-in-cowden-syndrome-and-bannayan-riley-ruvalcaba-syndrome-patients-without-underlying-germline-pten-mutations
#3
Lamis Yehia, Ying Ni, Kaitlin Sesock, Farshad Niazi, Benjamin Fletcher, Hannah Jin Lian Chen, Thomas LaFramboise, Charis Eng
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. We conducted a 4-year multicenter prospective study of incident patients with features of Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29683994/a-spatial-temporal-analysis-of-hiv-associated-mortality-in-rural-western-kenya-2011-2015
#4
Peter Sifuna, Lucas Otieno, Ben Andagalu, Janet Oyieko, Bernhards Ogutu, Valentine Singoei, John Owuoth, Sheila Ogwang, Jessica Cowden, Walter Otieno
BACKGROUND: Reliable data on the HIV epidemic is critical for the measurement of the impact of HIV response and for the implementation of further interventions. METHODS: We used mortality data from the Kombewa Health and Demographic Surveillance Systems (HDSS) from 1 January 2011-31 December 2015 to examine the space-time pattern of HIV-associated mortality. HIV mortality rate was calculated per 1,000 PLHV (for comparison with regional and national averages) and per 1,000 person-years (p-y) for comparison with other HDSS sites...
April 20, 2018: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/29662326/cd133-promotes-adhesion-to-the-ovarian-cancer-metastatic-niche
#5
Lynn Roy, Alexander Bobbs, Rachel Sattler, Jeffrey L Kurkewich, Paige B Dausinas, Prakash Nallathamby, Karen D Cowden Dahl
Cancer stem cells (CSCs) are an attractive therapeutic target due to their predicted role in both metastasis and chemoresistance. One of the most commonly agreed on markers for ovarian CSCs is the cell surface protein CD133. CD133+ ovarian CSCs have increased tumorigenicity, resistance to chemotherapy, and increased metastasis. Therefore, we were interested in defining how CD133 is regulated and whether it has a role in tumor metastasis. Previously we found that overexpression of the transcription factor, ARID3B , increased the expression of PROM1 (CD133 gene) in ovarian cancer cells in vitro and in xenograft tumors...
2018: Cancer Growth and Metastasis
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#6
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29623738/erratum-to-acknowledgment-of-reviewers
#7
(no author information available yet)
Aponte, J. (2017): Acknowledgment of Reviewers. Hispanic Health Care International, 15, 200. Doi: 10.1177/1540415317746248 In the above "Acknowledgement of Reviewers", published in issue 15(4), nine reviewer names were not listed in the 'Acknowledgement to Reviewers' section. Please find below the names of the additional nine reviewers for 2017. The editor would also like to thank these reviewers for their participation and service to Hispanic Health Care International in 2017. María Luisa F. Arias, PhD, RN John Cowden, MD, MPH Giovanna De Oliveira, PhD, MSN, ARNP, ANP-C, PMHNP-BC Esther C...
March 2018: Hispanic Health Care International: the Official Journal of the National Association of Hispanic Nurses
https://www.readbyqxmd.com/read/29594054/a-case-report-of-syndromic-multinodular-goitre-in-adolescence-exploring-the-phenotype-overlap-between-cowden-and-dicer1-syndromes
#8
Dorothée Bouron-Dal Soglio, Leanne de Kock, Richard Gauci, Nelly Sabbaghian, Elizabeth Thomas, Helen C Atkinson, Nicholas Pachter, Simon Ryan, John P Walsh, M Priyanthi Kumarasinghe, Karen Carpenter, Ayça Aydoğan, Colin J R Stewart, William D Foulkes, Catherine S Choong
Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. Material and Methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy...
January 2018: European Thyroid Journal
https://www.readbyqxmd.com/read/29570129/cd34-and-berep4-are-helpful-to-distinguish-basaloid-tricholemmoma-from-basal-cell-carcinoma
#9
Nicholas Turnbull, Waseem Ghumra, Vivek Mudaliar, Josefa Vella, D Scott A Sanders, Saleem Taibjee, Richard Carr
Tricholemmoma, a benign follicular neoplasm with outer root sheath differentiation, typically comprises clear or pale cells, and when multiple is pathognomic of Cowden's syndrome. The tumor is probably underrecognized and in basaloid examples can be difficult to distinguish from basal cell carcinoma (BCC). We studied 55 tricholemmomas (including 15 basaloid cases) and compared immunohistochemical profile with nodular BCC from our archives. Basaloid and non-basaloid tricholemmomas had similar staining characteristics...
March 21, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29521551/effect-of-dial-out-prefix-change-on-9-1-1-calls-at-a-large-state-university
#10
Jane H Brice, Matthew A Psioda, Renee Johnson, Amy Oakley, Julianne M Cyr, Christopher S Cowden, Richard Uribe
BACKGROUND: Accessing the emergency medical services system via 9-1-1 operators is an effective way for patients to seek urgent health care; however, technological advances and telecommunication practices inundate the 9-1-1 and emergency services infrastructure with unintentional calls that delay response efforts to legitimate medical emergencies. OBJECTIVE: To determine whether the change in university-wide dial-out prefix from "9" to "7" reduced unnecessary calls to a 9-1-1 call center...
March 9, 2018: Prehospital Emergency Care
https://www.readbyqxmd.com/read/29510612/pten-mutation-identified-in-patient-diagnosed-with-simultaneous-multiple-cancers
#11
Hye Sung Won, Eun Deok Chang, Sae Jung Na, In Yong Whang, Dong Soo Lee, Sun Hyong You, Yong Seok Kim, Jeong Soo Kim
PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management...
February 27, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29502491/cause-specific-mortality-in-the-kombewa-health-and-demographic-surveillance-systems-site-rural-western-kenya-from-2011-2015
#12
Peter Sifuna, Lucas Otieno, Sheila Ogwang, Bernhards Ogutu, Ben Andagalu, John Owuoth, Valentine Singoei, Jessica Cowden, Walter Otieno
BACKGROUND: The vast majority of deaths in the health and Kombewa demographic surveillance system (HDSS) study area are not registered and reported through official systems of vital registration. As a result, few data are available regarding causes of death in this population. OBJECTIVES: To describe causes of death among residents of all ages in the Kombewa HDSS, located in rural Western Kenya. METHODS: Verbal autopsy (VA) interviews at the site were conducted using the modified 2007 and later 2012 standardized WHO questionnaires...
2018: Global Health Action
https://www.readbyqxmd.com/read/29496690/novel-germline-pten-mutation-associated-with-cowden-syndrome-and-osteosarcoma
#13
Christian Lopez, Mohammad Abuel-Haija, Luis Pena, Domenico Coppola
BACKGROUND: Cowden syndrome (CS) is a rare autosomal-dominant inherited disorder characterized by multiple hamartomas. While the hamartomas are benign, patients with CS have increased risk of osteosarcoma and of breast, thyroid, endometrial, soft-tissue and colonic neoplasms. Germline mutations of phosphatase and tensin homolog (PTEN) are implicated in CS and in the development of osteosarcoma. We report a patient with CS who presented with osteosarcoma, ganglioneuromatosis and a benign breast mass...
March 2018: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/29469739/cowden-syndrome-clinical-case-and-a-brief-review
#14
Sofia Lopes, Julia Vide, Elisabete Moreira, Filomena Azevedo
Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Given the suspicion, genetic study was conducted and PTEN mutation was identified...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29438433/attempts-to-grow-human-noroviruses-a-sapovirus-and-a-bovine-norovirus-in-vitro
#15
Tomoichiro Oka, Garrett T Stoltzfus, Chelsea Zhu, Kwonil Jung, Qiuhong Wang, Linda J Saif
Noroviruses (NoVs) and Sapoviruses (SaVs) are enteric caliciviruses that have been detected in multiple mammalian species, including humans. Currently, efficient cell culture systems have been established only for murine NoVs and porcine SaV Cowden strain. Establishment of an efficient in vitro cell culture system for other NoVs and SaVs remains challenging; however, human NoV (HuNoV) replication in 3D cultured Caco-2 cells and a clone of Caco-2 cells, C2BBe1, human enteroids and in human B cells has been reported...
2018: PloS One
https://www.readbyqxmd.com/read/29385988/a-patient-and-family-data-domain-collection-framework-for-identifying-disparities-in-pediatrics-results-from-the-pediatric-health-equity-collaborative
#16
Aswita Tan-McGrory, Caroline Bennett-AbuAyyash, Stephanie Gee, Kirk Dabney, John D Cowden, Laura Williams, Sarah Rafton, Arie Nettles, Sonia Pagura, Laurens Holmes, Jane Goleman, LaVone Caldwell, James Page, Patricia Oceanic, Erika J McMullen, Adriana Lopera, Sarah Beiter, Lenny López
BACKGROUND: By 2020, the child population is projected to have more racial and ethnic minorities make up the majority of the populations and health care organizations will need to have a system in place that collects accurate and reliable demographic data in order to monitor disparities. The goals of this group were to establish sample practices, approaches and lessons learned with regard to race, ethnicity, language, and other demographic data collection in pediatric care setting. METHODS: A panel of 16 research and clinical professional experts working in 10 pediatric care delivery systems in the US and Canada convened twice in person for 3-day consensus development meetings and met multiple times via conference calls over a two year period...
January 31, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29380000/tumor-induced-osteomalacia-in-association-with-pten-negative-cowden-syndrome
#17
J A Berglund, R I Gafni, F Wodajo, E W Cowen, D El-Maouche, R Chang, C C Chen, L C Guthrie, A A Molinolo, M T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. We present a patient with TIO who also exhibited clinical findings suggestive of Cowden syndrome (CS), a rare autosomal dominant disorder characterized by numerous benign hamartomas, as well as an increased risk for multiple malignancies, such as thyroid cancer...
April 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29378577/risks-predicting-prolonged-hospital-discharge-boarding-in-a-regional-acute-care-hospital
#18
Sajid A Shaikh, Richard D Robinson, Radhika Cheeti, Shyamanand Rath, Chad D Cowden, Frank Rosinia, Nestor R Zenarosa, Hao Wang
BACKGROUND: Prolonged hospital discharge boarding can impact patient flow resulting in upstream Emergency Department crowding. We aim to determine the risks predicting prolonged hospital discharge boarding and their direct and indirect effects on patient flow. METHODS: Retrospective review of a single hospital discharge database was conducted. Variables including type of disposition, disposition boarding time, case management consultation, discharge medications prescriptions, severity of illness, and patient homeless status were analyzed in a multivariate logistic regression model...
January 30, 2018: BMC Health Services Research
https://www.readbyqxmd.com/read/29373116/uncommon-hereditary-gynaecological-tumour-syndromes-pathological-features-in-tumours-that-may-predict-risk-for-a-germline-mutation
#19
REVIEW
Karuna Garg, Anthony N Karnezis, Joseph T Rabban
The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling...
February 2018: Pathology
https://www.readbyqxmd.com/read/29287614/effects-of-oral-exposure-to-inorganic-mercury-on-the-feeding-behaviour-and-biochemical-markers-in-yellowfin-bream-acanthopagrus-australis
#20
Cyntia Ayumi Yokota Harayashiki, Amanda Reichelt-Brushett, Ken Cowden, Kirsten Benkendorff
Mercury is a known toxic metal, but studies on the effects of inorganic mercury ingestion in aquatic organisms are scarce. The present study aimed to investigate changes in feeding behaviour and biomarkers (lipid peroxidation, acetylcholinesterase, glutathione S-transferase and catalase activities) of yellowfin bream (Acanthopagrus australis) after ingestion of inorganic mercury (control: 0.2 mg kg-1 , low: 0.7 mg kg-1 , medium: 2.4 mg kg-1 and high: 6 mg kg-1 ) over 16 days. After 4 days, exposed fish attempted feeding more often, and showed a significantly lower eating success than controls...
March 2018: Marine Environmental Research
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