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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
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
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
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
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
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
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
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...
January 29, 2018: Osteoporosis International
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
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
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...
December 20, 2017: Marine Environmental Research
Hidefumi Suzuki, Kyoko Hosokawa, Michio Ono, Yasuhiro Kojima, Masutaro Kanda, Hiroshi Shibasaki
A 24-year-old woman slowly developed mild unsteadiness of gait. Neurological examination revealed mild dysmetria of the left upper and lower limbs. Standing and gait were unsteady, and tandem gait was impossible. Cranial magnetic resonance imaging (MRI) showed an enlarged left cerebellar hemisphere with striated lines, a characteristic finding of Lhermitte-Duclos disease. She also had papules on the forehead, goiter, lactating adenoma, glycogenic acanthosis in the esophagus, café-au-lait spot, and hemangioma and keratosis on the dorsum of foot...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
Julie Guilmette, Vania Nosé
The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Hereditary thyroid neoplasms arising from calcitonin-producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well-documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome...
January 2018: Histopathology
Aybuke Caliskan, Wendy K Kohlmann, Kajsa E Affolter, Erinn Downs-Kelly, Priyanka Kanth, Mary P Bronner
Intramucosal lipomas are rare and easily overlooked by pathologists, despite their diagnostic significance for Cowden syndrome (PTEN hamartoma tumor syndrome), an inherited multiorgan cancer syndrome. Only 25-35% of patients harbor identifiable PTEN mutations, thus clinical features, like intramucosal lipomas, remain the mainstay of diagnosis. The significance and diagnostic approach to intramucosal lipomas have not been thoroughly addressed in the literature. Intramucosal lipomas are mimicked by pseudolipomatosis coli, an artifactual mucosal gas infiltration from endoscopic insufflation...
December 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Huiying Ma, Lodewijk A A Brosens, G Johan A Offerhaus, Francis M Giardiello, Wendy W J de Leng, Elizabeth A Montgomery
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions...
January 2018: Pathology
Maya Ragavan, Wendy Li, A Rani Elwy, John Cowden, Megan Bair-Merritt
OBJECTIVES: Well-child visits are a critical component of pediatric healthcare; however, disparities in attendance and quality of care exist for Asian children. Limited research has explored Asian immigrant parents' perspectives about their well-child visit experience. METHODS: Qualitative interviews were conducted with Chinese, Vietnamese, and Asian Indian immigrant parents. Participants were recruited from community-based organizations in the Boston area. Interviews focused on parents' perceptions about well-child visits, including individual attitudes, social and cultural factors impacting their opinions, perceived behavioral control, and improving visits for Asian immigrant families...
November 17, 2017: Academic Pediatrics
Adam Z Fink, Julia K Gittler, Radhika N Nakrani, Jonathan Alis, Einat Blumfield, Terry L Levin
PURPOSE: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. METHODS: We review the imaging findings in childhood diseases associated with dermatologic manifestations. FINDINGS: Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura)...
October 31, 2017: Clinical Imaging
Kevin Y Shi, Travis Vandergriff
Erythema elevatum diutinum (EED) is a rare, cutaneous vasculitis of uncertain origin. EED can present clinically as chronic bilateral, symmetrical, periarticular papules, plaques and nodules. We report here an unusual case of EED presenting as multiple, densely fibrosing nodules on the feet of a 60-year-old human immunodeficiency virus positive woman. The initial evaluation of the patient was complicated by the strong histologic resemblance of multiple lesions to sclerotic fibroma, a cutaneous manifestation of Cowden disease...
January 2018: Journal of Cutaneous Pathology
Victoria Alegría-Landa, Margarita Jo-Velasco, Mercedes Robledo, Luis Requena
Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. The common and necessary nexus that defines these 2 phenotypes is the presence of medullary thyroid carcinoma (MTC)...
October 18, 2017: JAMA Dermatology
Bradley Anderson, Thomas Smyrk, Seth Sweester
Cowden syndrome (CS) represents one possible phenotype of the PTEN gene mutation, and it can cause hamartomas throughout the gastrointestinal tract, with a predisposition for malignancy. Fibroblastic polyps have not been associated with CS. A 45-year-old woman with CS presenting for colonoscopic surveillance was found to have multiple sessile polyps throughout the transverse, descending, and sigmoid colon, all 2-5 mm in diameter. Based on the morphologic features and the immunohistochemical profile, these lesions were classified as fibroblastic polyps...
2017: ACG Case Reports Journal
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