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Carney Complex

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https://www.readbyqxmd.com/read/28414088/embryonic-vascular-disruption-adverse-outcomes-linking-high-throughput-signaling-signatures-with-functional-consequences
#1
Robert G Ellis-Hutchings, Raja S Settivari, Alene T McCoy, Nicole Kleinstreuer, Jill Franzosa, Thomas B Knudsen, Edward W Carney
Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High-throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay...
April 13, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28387096/-a-familial-non-medullary-thyroid-carcinoma-fnmtc-a-clinical-and-genetic-update
#2
REVIEW
H Valdes-Socin, L Palmeira, M-C Burlacu, A-F Daly, V Bours, A Beckers
The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13.2) or without oxyphilia (Ch2q21), in association with a multinodular goiter (Ch14q32), or with a renal cancer (Ch1q21)...
December 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28369983/microinsertions-in-prkaca-cause-activation-of-the-protein-kinase-a-pathway-in-cardiac-myxoma
#3
I-Ching Tseng, Wei-Ju Huang, Yu-Ling Jhuang, Ya-Yun Chang, Hung-Pin Hsu, Yung-Ming Jeng
Cardiac myxoma is the most common cardiac tumour. Most lesions occur sporadically, but occasional lesions develop in patients with Carney complex, a syndrome characterised by cardiac myxoma, spotty pigmentation, and endocrine overactivity. Two-thirds of patients with Carney complex harbour germline mutations in PRKAR1A, which encodes the type I regulatory subunit of protein kinase A (PKA). Most studies have not found a mutation in PRKAR1A in sporadic cardiac myxoma cases. Recent studies identified frequent mutation in PRKACA, the catalytic subunit of PKA, in cortisol-secreting adrenocortical adenoma cases...
March 28, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28367853/familial-atrial-myxoma-three-related-cases-at-an-australian-tertiary-institution
#4
Campbell Schmidt, Atsuo Doi, Masashi Ura, Chris Cole, Julie Mundy
Carney complex accounts for up to two-thirds of familial cardiac myxoma. It is a rare autosomal dominant syndrome, which is also characterized by multiple mucocutaneous lesions and endocrine tumors. We report on three first-degree relatives who underwent surgical resection at the same Australian tertiary institution. One patient re-presented with a recurrent tumor at an interval of 6 years. In this context, the role of interval surveillance, family screening, and genetic testing is explored. We recommend interval echocardiographic surveillance for affected individuals and first-degree relatives given the high risk of recurrence and the morbidity and mortality associated with cardiac tumors in any location...
March 29, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28329589/superficial-angiomyxoma-of-the-nipple-a-case-report-of-an-infrequent-cutaneous-tumour
#5
Ana Mercedes Victoria Martínez, José Luis Sánchez Carazo, Victor Alegre de Miquel
Superficial angiomyxoma is a distinctive cutaneous soft tissue neoplasm that is clinically variable, infrequent, and benign. However, this tumor has a high propensity for local recurrence. There is a known association of angiomyxomas with Carney complex. We report a case of superficial angiomyxoma in a 28-year-old woman who presented with an erythematous, mul-tilobulated nodule on the nipple. This tumor has a predilection for the trunk, head and neck, extremities, and genitalia. The present case, hence, is unusual, because the lesion developed on the nipple...
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28297688/-a-case-of-a-pituitary-adenoma-diagnosed-as-carney-complex-syndrome-in-an-older-female-patient
#6
Ai Okamoto, Daisuke Wajima, Rinsei Tei, Yasushi Shin, Misato Inoue, Shuta Aketa, Taiji Yonezawa
Carney complex syndrome is an autosomal dominant familial tumor syndrome first described by Carney et al. in 1985. The diagnostic criteria include endocrine hyperactivity and spotty skin pigmentation. A 73-year-old woman with cerebral infarction was referred to our department because her brain magnetic resonance imaging(MRI)revealed a pituitary tumor. Her blood tests revealed elevated levels of growth hormone(GH), thyroid stimulating hormone(TSH), and insulin-like growth factor-1(IGF-1). We suspected the presence of a GH-secreting tumor and performed the operation...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28276158/an-adolescent-with-large-cell-calcifying-sertoli-cell-tumor-of-the-testis-and-undiagnosed-carney-complex-a-case-report
#7
Frida Rosenblum, Richard Gabriel Koenig, Fady M Mikhail, John R Porterfield, Jeffrey W Nix, Isam-Eldin A Eltoum
Carney Complex (CNC) is a rare autosomal dominant condition with characteristic clinical presentation, tumor development, and unique genetic mutation. We present a unique case and literature review of CNC in which two neoplasms characteristic of this complex were initially diagnosed through cytological fine needle aspirate specimens, leading to the identification of CNC, with subsequent surgical and cytogenetic confirmation. Diagn. Cytopathol. 2017. © 2017 Wiley Periodicals, Inc.
March 9, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28215272/sleep-related-cognitive-processes-arousal-and-emotion-dysregulation-in-insomnia-disorder-the-role-of-insomnia-specific-rumination
#8
Laura Palagini, Umberto Moretto, Liliana Dell'Osso, Colleen Carney
OBJECTIVE: Insomnia-specific rumination has presented in subjects with insomnia. Research has identified hyperarousal as a key factor, with both trait and state components. It has been shown that emotion dysregulation also plays a role in insomnia. Hence, the aim was to investigate how insomnia rumination is associated with both trait- and state-dependent arousal and emotion dysregulation in insomnia. METHODS: Sixty-eight subjects with insomnia disorder (DSM-5) and 36 good sleepers were evaluated using: Insomnia Severity Index (ISI), Daytime Insomnia Symptom Response Scale (DISRS), Arousal Predisposition Scale (APS), Pre-sleep Arousal Scale (PSAS), and Difficulties in Emotion Regulation Scale (DERS)...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28214562/leveraging-health-informatics-to-a-foster-smart-systems-response-to-health-disparities-and-health-equity-challenges
#9
Timothy Jay Carney, Amanda Y Kong
Informaticians are challenged to design health IT solutions for complex problems like health disparities but are only achieving mixed results in demonstrating a direct impact on health outcomes. This presentation of collective intelligence and the corresponding terms of smart health, knowledge ecosystem, enhanced health disparities informatics capacities, knowledge exchange, big-data, and situational awareness are means of demonstrating the complex challenges informatics professional face in trying to model, measure, and manage an intelligence and a smart systems response to health disparities...
February 15, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28202162/trends-in-open-abdominal-surgery-in-the-united-states-observations-from-9-950-759-discharges-using-the-2009-2013-national-inpatient-sample-nis-datasets
#10
Martin J Carney, Jason M Weissler, Justin P Fox, Michael G Tecce, Jesse Y Hsu, John P Fischer
INTRODUCTION: Incisional hernia (IH) represents a complex and costly surgical complication. We aim to address trends in open surgery to better understand potential drivers of hernia risk. MATERIAL AND METHODS: Using the 2009-2013 NIS, a cross-sectional review of hospital discharges associated with an open abdominal surgery was performed. RESULTS: Between 2009 and 2013, there were nearly 10 million discharges associated with an open abdominal surgery...
January 12, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28167999/informatics-metrics-and-measures-for-a-smart-public-health-systems-approach-information-science-perspective
#11
REVIEW
Timothy Jay Carney, Christopher Michael Shea
Public health informatics is an evolving domain in which practices constantly change to meet the demands of a highly complex public health and healthcare delivery system. Given the emergence of various concepts, such as learning health systems, smart health systems, and adaptive complex health systems, health informatics professionals would benefit from a common set of measures and capabilities to inform our modeling, measuring, and managing of health system "smartness." Here, we introduce the concepts of organizational complexity, problem/issue complexity, and situational awareness as three codependent drivers of smart public health systems characteristics...
2017: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/28087056/extraction-chromatographic-separations-of-tantalum-and-tungsten-from-hafnium-and-complex-matrix-constituents
#12
Mathew S Snow, Martha R Finck, Kevin P Carney, Samuel S Morrison
Tantalum (Ta), hafnium (Hf), and tungsten (W) analyses from complex matrices require high purification of these analytes from each other and major/trace matrix constituents, however, current state-of-the-art Ta/Hf/W separations rely on traditional anion exchange approaches that show relatively similar distribution coefficient (Kd) values for each element. This work reports an assessment of three commercially available extraction chromatographic resins (TEVA, TRU, and UTEVA) for Ta/Hf/W separations. Batch contact studies show differences in Ta/Hf and Ta/W Kd values of up to 10(6) and 10(4) (respectively), representing an improvement of a factor of 100 and 300 in Ta/Hf and Ta/W Kd values (respectively) over AG1×4 resin...
February 10, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28032156/complex-truncal-masses-in-the-setting-of-cloves-syndrome-aesthetic-and-functional-implications
#13
Jason M Weissler, Valeriy Shubinets, Martin J Carney, David W Low
BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (CLOVES) is a complex overgrowth syndrome with dramatic aesthetic and functional implications. The truncal masses characteristic of CLOVES syndrome are described as vascular malformations or lipomatous lesions with variable vascular components. Herein, we describe our single-institution experience with surgical excision of CLOVES-related truncal masses and discuss future directions in treatment of these complex anomalies...
December 28, 2016: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28012237/sporadic-melanotic-schwannoma-with-overlapping-features-of-melanocytoma-bearing-a-gna11-mutation-in-an-adolescent-girl
#14
Christina Tatsi, Flora Bacopoulou, Charalampos Lyssikatos, Elena Belyavskaya, Fabio R Faucz, Constantine A Stratakis
Melanotic schwannoma (MS) is a soft tissue neoplasm that shares histologic features with melanocytic tumors and schwannomas. A type of MS, called psammomatous MS (PMS), is associated with Carney complex (CNC), which is caused by PRKAR1A mutations. Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. We report an adolescent female with a large sporadic mesenteric MS with complex histologic findings reminiscent of both PMS and MC...
June 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28008382/osteochondromyxoma-review-of-a-rare-carney-complex-criterion
#15
REVIEW
Todd Golden, Juan A Siordia
Osteochondromyxoma is an extremely rare bone tumor associated with 1% of Carney complex patients and constitutes one of its 11 diagnostic criteria. This narrative review of osteochondromyxoma is based on a search of all references to the topic in PubMed, Web Of Science, SCOPUS, ScienceDirect, and JSTOR databases. Special attention was focused on case reports, leading to a review encompassing the case reports to date, as well as related animal model studies. This review covers the current understanding of osteochondromyxoma, highlighting its variability while providing consensus on the most common clinical presentation, pathological findings, and genetic features of this rare bone tumor...
November 2016: Journal of Bone Oncology
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#16
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27943004/carney-complex-a-familial-lentiginosis-predisposing-to-a-variety-of-tumors
#17
REVIEW
Constantine A Stratakis
Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27892931/the-influence-of-tumor-regression-solar-elastosis-and-patient-age-on-pathologists-interpretation-of-melanocytic-skin-lesions
#18
Linda Titus, Raymond L Barnhill, Jason P Lott, Michael W Piepkorn, David E Elder, Paul D Frederick, Heidi D Nelson, Patricia A Carney, Stevan R Knezevich, Martin A Weinstock, Joann G Elmore
It is not known whether patient age or tumor characteristics such as tumor regression or solar elastosis influence pathologists' interpretation of melanocytic skin lesions (MSLs). We undertook a study to determine the influence of these factors, and to explore pathologist's characteristics associated with the direction of diagnosis. To meet our objective, we designed a cross-sectional survey study of pathologists' clinical practices and perceptions. Pathologists were recruited from diverse practices in 10 states in the United States...
February 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27875378/cushing-syndrome-in-carney-complex-clinical-pathologic-and-molecular-genetic-findings-in-the-17-affected-mayo-clinic-patients
#19
Kathleen M Lowe, William F Young, Charalampos Lyssikatos, Constantine A Stratakis, J Aidan Carney
Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder...
February 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27843450/elder-orphans-hiding-in-plain-sight-a-growing-vulnerable-population
#20
Maria T Carney, Janice Fujiwara, Brian E Emmert, Tara A Liberman, Barbara Paris
Adults are increasingly aging alone with multiple chronic diseases and are geographically distant from family or friends. It is challenging for clinicians to identify these individuals, often struggling with managing the growing difficulties and the complexities involved in delivering care to this population. Clinicians often may not recognize or know how to address the needs that these patients have in managing their own health. While many such patients function well at baseline, the slightest insult can initiate a cascade of avoidable negative events...
2016: Current Gerontology and Geriatrics Research
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