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Carney Complex

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https://www.readbyqxmd.com/read/28809777/pigmented-epithelioid-melanocytoma-pem-animal-type-melanoma-atm-quest-for-an-origin-report-of-one-unusual-case-indicating-follicular-origin-and-another-arising-in-an-intradermal-nevus
#1
Ashley Tarasen, J Andrew Carlson, M Kathryn Leonard, Glenn Merlino, David Kaetzel, Andrzej T Slominski
Pigmented epithelioid melanocytoma (PEM) is a tumor encompassing epithelioid blue nevus of Carney complex (EBN of CNC) and was previously termed animal-type melanoma. Histologically PEMs are heavily pigmented spindled and epithelioid dermal melanocytic tumors with infiltrative borders, however, their origin remains unclear. Stem cells for the epidermis and hair follicle are located in the bulge area of the hair follicle with the potential to differentiate into multiple lineages. Multiple cutaneous carcinomas, including follicular cutaneous squamous cell carcinoma (FSCC), are thought to arise from stem cells in the follicular bulge...
August 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28796000/genomic-analysis-of-pigmented-epithelioid-melanocytomas-reveals-recurrent-alterations-in-prkar1a-and-prkca-genes
#2
Jarish N Cohen, Nancy M Joseph, Jeffrey P North, Courtney Onodera, Artur Zembowicz, Philip E LeBoit
Pigmented epithelioid melanocytoma (PEM) is a rare cutaneous melanocytic tumor first described as epithelioid blue nevus in patients with the Carney Complex (CC). PEM was among the first established examples of an intermediate class of melanocytic tumors, including atypical Spitz tumors, with frequent metastasis to lymph nodes but only rare extranodal spread. Sporadic and CC-associated PEM are essentially histologically indistinguishable. A subset of PEM shows loss of cytoplasmic expression of the protein kinase A regulatory subunit alpha (PRKAR1A), a tumor suppressor gene mutated in 70% of families with CC...
August 8, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28745458/novel-prkar1a-mutation-in-carney-complex-with-cardiac-myxoma
#3
Kyohei Kondo, Masako Harada, Takao Konomoto, Megumi Hatanaka, Hiroyuki Nunoi
No abstract text is available yet for this article.
July 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28710192/organ-sparing-surgery-for-large-cell-calcifying-sertoli-cell-tumour-in-a-patient-with-carney-complex
#4
Maria José Freire, Pedro Nunes, Luà S Sousa, Arnaldo Figueiredo
Carney complex is a rare genetic disease characterised by a complex of myxomas, spotty pigmentation and endocrine overactivity. At diagnosis, about one-third of male patients presents with testicular tumours, namely large cell calcifying Sertoli cell tumours, which are often multicentric and/or bilateral and have a low malignant potential. Although radical orchiectomy is the gold standard for the treatment of testicular neoplasms, a conservative approach with partial orchiectomy or tumourectomy may be the best treatment option for these patients, allowing the preservation of endocrine function, fertility and body image...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28671890/management-of-infected-mesh-after-abdominal-hernia-repair-systematic-review-and-single-institution-experience
#5
Valeriy Shubinets, Martin J Carney, David L Colen, Michael N Mirzabeigi, Jason M Weissler, Michael A Lanni, Benjamin M Braslow, John P Fischer, Stephen J Kovach
BACKGROUND: Mesh infection after abdominal hernia repair is a devastating complication that affects general and plastic surgeons alike. The purpose of this study was 3-fold: (1) to determine current evidence for treatment of infected abdominal wall mesh via systematic review of literature, (2) to analyze our single-institution experience with treatment of infected mesh patients, and (3) to establish a framework for how to approach this complex clinical problem. METHODS: Literature search was performed using the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines, followed by single-institution retrospective analysis of infected mesh patients...
June 1, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28662997/next-generation-immunohistochemistry-emerging-substitutes-to-genetic-testing
#6
REVIEW
Juliana Andrici, Anthony J Gill, Jason L Hornick
The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes...
June 27, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28640241/long-read-genome-sequencing-identifies-causal-structural-variation-in-a-mendelian-disease
#7
Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford, Euan A Ashley
PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify structural variants in a patient who presented with multiple neoplasia and cardiac myxomata, in whom the results of targeted clinical testing and genome SRS were negative...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28624066/complexity-of-medical-decision-making-in-care-provided-by-surgeons-through-patient-portals
#8
Jamie R Robinson, Alissa Valentine, Cathy Carney, Daniel Fabbri, Gretchen P Jackson
BACKGROUND: Patient portals are online applications that allow patients to interact with healthcare organizations and view information. Portal messages exchanged between patients and providers contain diverse types of communications, including delivery of medical care. The types of communications and complexity of medical decision-making in portal messages sent to surgeons have not been studied. MATERIALS AND METHODS: We obtained all message threads initiated by patients and exchanged with surgical providers through the Vanderbilt University Medical Center patient portal from June 1 to December 31, 2014...
June 15, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28615245/the-regulatory-1%C3%AE-subunit-of-protein-kinase-a-modulates-renal-cystogenesis
#9
Hong Ye, Xiaofang Wang, Megan M Constans, Caroline R Sussman, Fouad Chebib, Maria V Irazabal, William F Young, Peter C Harris, Lawrence S Kirschner, Vicente E Torres
The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for Autosomal Dominant Polycystic Kidney Disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways...
June 14, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28551172/benign-large-cell-calcifying-sertoli-tumor-of-the-testis-in-a-13-year-old-male-treated-with-partial-orchiectomy
#10
Anthony J Tracey, Wolfgang H Cerwinka
Large cell calcifying Sertoli cell tumors of the testis (LCCSCT) is an exceptionally rare lesion, found sparsely in any medical literature. There is a correlation between this entity and Peutz-Jeghers syndrome and Carney's complex (40% of tumors). The remaining 60% of tumors are sporadic.A 13 year old male underwent a left partial orchiectomy. Intra-op frozen section was used. Pathology revealed a benign large cell calcifying sertoli cell tumor with negative margins. To our knowledge there is not a case in the literature of a LCCSCT being treated with partial orchiectomy in a pubertal male with a normal contralateral testis...
May 24, 2017: Urology
https://www.readbyqxmd.com/read/28527947/embryonic-vascular-disruption-adverse-outcomes-linking-high-throughput-signaling-signatures-with-functional-consequences
#11
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...
May 17, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28522647/prkar1a-mutation-causing-pituitary-dependent-cushing-disease-in-a-patient-with-carney-complex
#12
Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Marta Korbonits, Stefan Wolfsberger, Engelbert Knosp, Franz Trautinger, Romana Höftberger, Michael Krebs, Anton Luger, Alois Gessl
CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28513873/myxoid-fibroadenomas-differ-from-conventional-fibroadenomas-a-hypothesis-generating-study
#13
John R Lozada, Kathleen A Burke, Aoife Maguire, Fresia Pareja, Raymond S Lim, Jisun Kim, Rodrigo Gularte-Merida, Melissa P Murray, Edi Brogi, Britta Weigelt, Jorge S Reis-Filho, Felipe C Geyer
AIMS: Breast myxoid fibroadenomas (MFAs) are characterized by a distinctive hypocellular myxoid stroma, and occur sporadically or in the context of Carney complex, an inheritable condition caused by PRKAR1A-inactivating germline mutations. Conventional fibroadenomas (FAs) are underpinned by recurrent MED12 mutations in the stromal components of the lesions. The aim of this study was to investigate the genomic landscape of MFAs and compare it with that of conventional FAs. METHODS AND RESULTS: Eleven MFAs from patients without clinical and/or genetic evidence of Carney complex were retrieved...
May 17, 2017: Histopathology
https://www.readbyqxmd.com/read/28504030/practical-recommendations-for-the-choice-of-anticoagulants-in-the-management-of-patients-with-atrial-fibrillation-on-ibrutinib
#14
Khai Li Chai, Gail Rowan, John F Seymour, Kate Burbury, Dennis Carney, Constantine S Tam
The management of AF represents a major challenge in patients with CLL, especially in elderly patients with multiple comorbidities who are representative of the majority of patients with CLL. This is especially complex in the case of ibrutinib. Many anticoagulants have potential for pharmacological interaction with ibrutinib, and ibrutinib itself has antiplatelet properties. Use of ibrutinib therapy in these patients mandates review and revision of the need for anticoagulation and best anticoagulant to use...
May 15, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28502514/dyslipidemia-weight-gain-and-decreased-growth-velocity-in-a-14-year-old-male
#15
Don P Wilson, Luke Hamilton, Sameer Prakash, Fernando J Castro-Silva, James Friedman
A 14-year-old male was referred for dyslipidemia. His findings were consistent with metabolic syndrome. Although he lacked the typical physical appearance, his accelerated weight gain combined with a decreased linear growth velocity suggested Cushing syndrome. He was subsequently found to have adrenocorticotropic hormone-independent Cushing syndrome secondary to primary pigmented nodular adrenal disease without Carney Complex. After bilateral adrenalectomy, his lipid profile returned to normal. In this article, we discuss the role of glucocorticoids on lipid and lipoprotein metabolism...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28476226/genetic-aspects-of-pituitary-adenomas
#16
REVIEW
Pedro Marques, Márta Korbonits
Although most of pituitary adenomas are benign, they may cause significant burden to patients. Sporadic adenomas represent the vast majority of the cases, where recognized somatic mutations (eg, GNAS or USP8), as well as altered gene-expression profile often affecting cell cycle proteins have been identified. More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. These alterations influence the biological behavior, clinical presentations and therapeutic responses, and their full understanding helps to provide appropriate care for these patients...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28414088/embryonic-vascular-disruption-adverse-outcomes-linking-high-throughput-signaling-signatures-with-functional-consequences
#17
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
#18
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
#19
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 characterized 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 mutations in PRKACA, which encodes the catalytic subunit of PKA, in cortisol-secreting adrenocortical adenoma cases...
June 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28367853/familial-atrial-myxoma-three-related-cases-at-an-australian-tertiary-institution
#20
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
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