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Carney Complex

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https://www.readbyqxmd.com/read/29039922/synthesis-and-crystal-structures-of-volatile-neptunium-iv-%C3%AE-diketonates
#1
Aaron T Johnson, T Gannon Parker, Sara M Dickens, Jana K Pfeiffer, Allen G Oliver, Donald Wall, Nathalie A Wall, Martha R Finck, Kevin P Carney
Production of certified reference materials in support of domestic nuclear forensics programs require volatile precursors for introduction into electromagnetic isotopic separation instruments. β-Diketone chelates of tetravalent actinides are known for their high volatility, but previously developed synthetic approaches require starting material (NpCl4) that is prohibitively difficult and hazardous to prepare. An alternative strategy was developed here that uses controlled potential electrolysis to reduce neptunium to the tetravalent state in submolar concentrations of hydrochloric acid...
October 17, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/29022641/-familial-isolated-pituitary-adenomas-fipa-case-report-of-four-families-and-review-of-literature
#2
Joanna Elżbieta Malicka, Joanna Świrska, Maria Kurowska, Marta Dudzińska, Jerzy S Tarach
BackgroundThe majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. ObjectivesThe aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28984035/carney-complex-revealed-by-a-cerebellar-ischemic-stroke-in-a-six-year-old-girl
#3
Marie Acquitter, Violaine Laparra, Emilie Brenaut, Sylviane Peudenier, Raphaël Teissier, Eric Clauser, Laurent Misery, Claire Abasq-Thomas
Carney complex (CNC, OMIM 160980) is a rare dominantly inherited syndrome characterized by the presence of skin pigmentation, myxomas and endocrine tumors. Two-thirds of patients are found to have an inactivating heterozygous germline mutation of the PRKAR1A gene, which encodes the R1alpha regulatory subunit of cyclic-Amp-dependent protein kinase A (1). Approximately 160 index case have been identified (2). This article is protected by copyright. All rights reserved.
October 6, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28973408/fatal-carney-complex-in-siblings-due-to-de-novo-large-gene-deletion
#4
Maria Stelmachowska-Banas, Wojciech Zgliczynski, Piotr Tutka, J Aidan Carney, Márta Korbonits
Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumours and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one third of patients the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and small deletions/insertions not exceeding 15 base pairs. Recently, large germline PRKAR1A deletions have been described and may cause a more severe phenotype...
July 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28895722/dielectric-sphere-clusters-as-a-model-to-understand-infrared-spectroscopic-imaging-data-recorded-from-complex-samples
#5
Ilia L Rasskazov, Nicolas Spegazzini, P Scott Carney, Rohit Bhargava
Understanding the infrared (IR) spectral response of materials as a function of their morphology is not only of fundamental importance but also of contemporary practical need in the analysis of biological and synthetic materials. While significant work has recently been reported in understanding the spectra of particles with well-defined geometries, we report here on samples that consist of collections of particles. First, we theoretically model the importance of multiple scattering effects and computationally predict the impact of local particles' environment on the recorded IR spectra...
October 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28878664/a-novel-prkar1a-mutation-identified-in-a-patient-with-isolated-primary-pigmented-nodular-adrenocortical-disease
#6
Sira Korpaisarn, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, Chutintorn Sriphrapradang
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. A small right adrenal adenoma of 0...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28871709/unusual-presentations-of-carney-complex-in-patient-with-a-novel-prkar1a-mutation
#7
Safak Akin, Senem Noyan, Selcuk Dagdelen, Ilhan Pasaoglu, Volkan Kaynaroglu, Melike Mut Askun, Cenk Yucel Bilen, Hayyam Kiratli, Dilek Ertoy Baydar, Sevgen Onder, Cenk Sokmensuer, Kudret Aytemir, Gul Erkin, Pinar Ozgen Kiratli, Mehmet Alikasifoglu, Tomris Erbas
Carney Complex (CNC) is a multiple neoplasia syndrome characterized by skin tumors and pigmented lesions, myxomas, and various endocrine tumors. The aim of this case report was to describe a case of CNC with a novel PRKAR1A mutation. A man aged 46 years with a medical history of surgery for cardiac myxomas at the age of 39 was admitted to our hospital because of four newly-developed heart masses. The histologic examination confirmed cardiac myxomas. He had many presentations of CNC such as growth hormone (GH) and prolactin (PRL)-secreting mixed pituitary adenoma, benign thyroid nodule, large-cell calcifying Sertoli cell tumor (LCCST), and superficial angiomyxoma...
August 5, 2017: Neuro Endocrinology Letters
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
#8
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
#9
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...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28745458/novel-prkar1a-mutation-in-carney-complex-with-cardiac-myxoma
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
Hong Ye, Xiaofang Wang, Megan M Constans, Caroline R Sussman, Fouad T Chebib, María 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...
September 1, 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-patient-treated-with-partial-orchiectomy
#17
Anthony J Tracey, Wolfgang H Cerwinka
Large-cell calcifying Sertoli cell tumor (LCCSCT) of the testis is an exceptionally rare lesion, found sparsely in any medical literature. There is a correlation between this entity and Peutz-Jeghers syndrome and Carney complex (40% of tumors). The remaining 60% of tumors are sporadic. A 13-year-old male patient underwent a left partial orchiectomy. Intraoperative frozen section was used, and pathology revealed a benign LCCSCT with negative margins. To our knowledge, there is not a case in the literature of an 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
#18
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
#19
Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Márta 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...
August 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28513873/myxoid-fibroadenomas-differ-from-conventional-fibroadenomas-a-hypothesis-generating-study
#20
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...
October 2017: Histopathology
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