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https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27901016/relationships-between-arsenic-concentrations-in-drinking-water-and-lung-and-bladder-cancer-incidence-in-u-s-counties
#2
William M Mendez, Sorina Eftim, Jonathan Cohen, Isaac Warren, John Cowden, Janice S Lee, Reeder Sams
Increased risks of lung and bladder cancer have been observed in populations exposed to high levels of inorganic arsenic. However, studies at lower exposures (i.e., less than 100 μg/l in water) have shown inconsistent results. We therefore conducted an ecological analysis of the association between historical drinking water arsenic concentrations and lung and bladder cancer incidence in U.S. counties. We used drinking water arsenic concentrations measured by the U.S. Geological Survey and state agencies in the 1980s and 1990s as proxies for historical exposures in counties where public groundwater systems and private wells are important sources of drinking water...
November 30, 2016: Journal of Exposure Science & Environmental Epidemiology
https://www.readbyqxmd.com/read/27900366/exome-sequencing-reveals-germline-gain-of-function-egfr-mutation-in-an-adult-with-lhermitte-duclos-disease
#3
Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester, Charis Eng
Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for PTEN. Exome sequencing revealed a germline heterozygous EGFR mutation that breaks a disulfide bond in the receptor's extracellular domain, resulting in constitutive activation. Functional studies demonstrate activation of ERK/AKT signaling pathways, mimicking PTEN loss-of-function downstream effects...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27889943/a-clinicopathological-study-of-the-oral-lesions-of-cowden-disease
#4
Mariana Hammerschmidt, Silvia Vanessa Lourenço, Marcello Menta Simonsen Nico
BACKGROUND: Cowden disease is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Cutaneous and visceral lesions are either malignant tumours or are believed to represent hamartomatous growths. Mucocutaneous lesions are present on almost 100% of affected individuals. Nonetheless, some authors consider that the mucocutaneous manifestations of Cowden disease are, in reality, viral warts at distinct steps of evolution. There are only a few studies regarding the oral manifestations of Cowden disease...
November 7, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27886412/cowden-syndrome-serendipitous-diagnosis-in-patients-with-significant-breast-disease-case-series-and-literature-review
#5
Roisin M Heaney, Michael Farrell, Maurice Stokes, Tom Gorey, Dylan Murray
Cowden syndrome (CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS...
November 25, 2016: Breast Journal
https://www.readbyqxmd.com/read/27881647/activation-of-cox-2-pge2-promotes-sapovirus-replication-via-the-inhibition-of-nitric-oxide-production
#6
Mia Madel Alfajaro, Jong-Soon Choi, Deok-Song Kim, Ja-Young Seo, Ji-Yun Kim, Jun-Gyu Park, Mahmoud Soliman, Yeong-Bin Baek, Eun-Hyo Cho, Joseph Kwon, Hyung-Jun Kwon, Su-Jin Park, Woo Song Lee, Mun-Il Kang, Myra Hosmillo, Ian Goodfellow, Kyoung-Oh Cho
: Enteric caliciviruses in the genera Norovirus and Sapovirus are important pathogens that cause severe acute gastroenteritis in both humans and animals. Cyclooxygenases (COXs) and their final product prostaglandin E2 (PGE2) are known to play important roles in the modulation of both the host response to the infection and replicative cycle of several viruses. However, the precise mechanism(s) by which the COXs/PGE2 pathway regulates sapoviruses replication remains largely unknown. In this study, the infection of porcine sapovirus (PSaV) Cowden strain, the only cultivable virus within the genus Sapovirus, markedly increased COX-2 mRNA and protein levels at 24 and 36 hours post-infection (hpi) with only a transient increase of COX-1 levels seen at 24 hpi...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27862891/effects-of-foliar-and-systemic-insecticides-on-whitefly-transmission-and-incidence-of-cucurbit-yellow-stunting-disorder-virus
#7
S J Castle, John Palumbo, Paul Merten, Charles Cowden, Nilima Prabhaker
BACKGROUND: Cucurbit yellow stunting disorder virus (CYSDV) is a cosmopolitan viral disease transmitted by Bemisia tabaci that infects cucurbit crops. Cantaloupe production in the southwestern U.S. has been confronted by epidemics of CYSDV since 2006 when it was first identified in Arizona and California. As a phloem-limited virus that is vectored in a semi-persistent manner by B. tabaci, CYSDV has transmission characteristics that may be suppressed by select insecticide applications...
November 11, 2016: Pest Management Science
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#8
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27703620/multidisciplinary-surgical-management-of-cowden-syndrome-report-of-a-case
#9
Romeo Patini, Edoardo Staderini, Patrizia Gallenzi
Cowden's Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Syndrome was made...
October 2016: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/27683091/linear-trichilemmomas-on-the-ankle-of-a-28-year-old-female
#10
Jessica L Gonzalez, Natalia Plotnikova, Andrew Seymour, Ciaran M Mannion, Richard Danialan, David Rosmarin
Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Trichilemmomas outside of the head and neck region are rare, and as such, the association with CS is not clear. A 28-year-old healthy female with no significant family history of cancer presented to her dermatologist with multiple erythematous papules on the left anterior ankle, starting at birth...
September 28, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27682856/multiple-clear-cell-acanthomas-and-a-sebaceous-lymphadenoma-presenting-in-a-patient-with-cowden-syndrome-a-case-report
#11
Silvia Potenziani, Danielle Applebaum, Bhuvaneswari Krishnan, Carolina Gutiérrez, A Hafeez Diwan
Cowden Syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial, and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas, and benign acral keratoses. Herein, we report a case of a 63-year-old Caucasian male with a long-established diagnosis of CS and history of thyroid cancer, colonic polyps, and innumerable trichilemmomas, seborrheic keratoses, squamous papillomas, and non-melanoma skin cancers excised in the past...
September 28, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27661969/gastrointestinal-polyposis-in-cowden-syndrome
#12
Ruthy Shaco-Levy, Kory W Jasperson, Katie Martin, N J Samadder, Randall W Burt, Jian Ying, Mary P Bronner
GOALS: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. BACKGROUND: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. STUDY: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review...
September 22, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27617518/lhermitte-duclos-disease-in-association-with-cowden-syndrome
#13
Colton Nielson, Toria Fischer, Ryan Fischer, Joseph Donald, Anand Rajpara
Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings.
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27570815/iris-mammillations-in-a-pair-of-twins-with-cowden-syndrome
#14
Lubna Suaiti, Ali Al-Haseni, Hyunjoo Lee, Debjani Sahni
No abstract text is available yet for this article.
July 2016: JAAD Case Reports
https://www.readbyqxmd.com/read/27565358/development-in-children-of-immigrant-families
#15
REVIEW
John D Cowden, Kelly Kreisler
Children of immigrant families experience developmental processes in the contexts of migration and settlement, presenting immigration-specific challenges. Child health providers can use awareness of the cultural-ecological model of immigrant child development to explore how acculturation, ethnic identity formation, and bilingualism affect the children and families under their care. Cross-cultural strategies for evaluating and supporting immigrant child development are presented to guide the provider in clinical interactions and community efforts...
October 2016: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27563534/multiple-meningiomas-in-a-patient-with-cowden-syndrome
#16
Margaret Pain, Armine Darbinyan, Mary Fowkes, Raj Shrivastava
BACKGROUND: Cowden syndrome is a rare, multisystem disease manifesting with increased hamartomas and neoplasms. Though meningioma has been documented in patients with Cowden syndrome, the relationship between these two phenomena is still unclear. CASE DESCRIPTION: We report a case of a 43-year-old female patient with a known PTEN mutation and clinical history of Cowden syndrome. A workup of headache demonstrated two skull base meningiomas. At the time of surgery, several additional tiny meningiomas were detected in the same region...
July 2016: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/27555364/mental-toughness-emotional-intelligence-and-coping-effectiveness-an-analysis-of-construct-interrelatedness-among-high-performing-adolescent-male-athletes
#17
Richard G Cowden
The purpose of this study was to examine the interrelationships between mental toughness (MT) and two constructs also linked to athletic performance, emotional intelligence (EI) and coping effectiveness. A sample of 151 male adolescent athletes (M age = 15.4 years, SD = 1.3) completed the Sports Mental Toughness Questionnaire, the Self-Rated Emotional Intelligence Scale, and an adapted version of the Coping Effectiveness Scale. The regression and mediation analysis results supported both hypotheses in that (a) EI was a significant predictor of MT and (b) the relationship between EI and coping effectiveness was fully mediated by MT...
August 23, 2016: Perceptual and Motor Skills
https://www.readbyqxmd.com/read/27543776/lhermitte-duclos-disease-with-neurofibrillary-tangles-in-heterotopic-cerebral-grey-matter
#18
D Rusiecki, B Lach
Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27540430/cowden-syndrome-detected-by-fdg-pet-ct-in-an-endometrial-cancer-patient
#19
Yun Hee Kang, Hye Kyung Lee, Geon Park
Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues and cancers (breast, thyroid, and endometrium). We report CS of the esophagus and gastrointestinal tract that was incidentally detected by positron emission tomography/computed tomography (PET/CT) at postoperative surveillance in an endometrial cancer patient. PET/CT showed mildly increased FDG uptake along the entire esophagus and stomach. Upper GI endoscopy and histologic examination revealed glycogenic acanthosis of the esophagus and several hundred gastric polyps...
September 2016: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/27537840/arid3b-is-critical-for-b-lymphocyte-development
#20
Jeffrey L Kurkewich, Nathan Klopfenstein, William M Hallas, Christian Wood, Rachel A Sattler, Chhaya Das, Haley Tucker, Richard Dahl, Karen D Cowden Dahl
Arid3a and Arid3b belong to a subfamily of ARID (AT-rich interaction domain) transcription factors. The Arid family is involved in regulating chromatin accessibility, proliferation, and differentiation. Arid3a and Arid3b are closely related and share a unique REKLES domain that mediates their homo- and hetero-multimerization. Arid3a was originally isolated as a B cell transcription factor binding to the AT rich matrix attachment regions (MARS) of the immunoglobulin heavy chain intronic enhancer. Deletion of Arid3a results in a highly penetrant embryonic lethality with severe defects in erythropoiesis and hematopoietic stem cells (HSCs)...
2016: PloS One
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