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Carney Complex

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https://www.readbyqxmd.com/read/28640241/long-read-genome-sequencing-identifies-causal-structural-variation-in-a-mendelian-disease
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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. We sought to investigate the genomic landscape of MFAs and compare it to 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
#8
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
#9
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
#10
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
#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...
April 13, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28387096/-a-familial-non-medullary-thyroid-carcinoma-fnmtc-a-clinical-and-genetic-update
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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