keyword
MENU ▼
Read by QxMD icon Read
search

Carney Complex

keyword
https://www.readbyqxmd.com/read/27892931/the-influence-of-tumor-regression-solar-elastosis-and-patient-age-on-pathologists-interpretation-of-melanocytic-skin-lesions
#1
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...
November 28, 2016: 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
#2
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...
November 21, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27843450/elder-orphans-hiding-in-plain-sight-a-growing-vulnerable-population
#3
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
https://www.readbyqxmd.com/read/27825928/structure-of-a-pka-ri%C3%AE-recurrent-acrodysostosis-mutant-explains-defective-camp-dependent-activation
#4
Jessica Gh Bruystens, Jian Wu, Audrey Fortezzo, Jason Del Rio, Cole Nielsen, Donald K Blumenthal, Ruth Rock, Eduard Stefan, Susan S Taylor
Most disease-related mutations that impair cAMP protein kinase A (PKA) signaling are present within the regulatory (R) PKA RI alpha-subunit (RIα). Although mutations in the PRKAR1A gene are linked to Carney complex (CNC) disease and, more recently, to acrodysostosis-1 (ACRDYS1), the two diseases show contrasting phenotypes. While CNC mutations cause increased PKA activity, ACRDYS1 mutations result in decreased PKA activity and cAMP resistant holoenzymes. Mapping the ACRDYS1 disease mutations reveals their localization to the second of two tandem cAMP-binding (CNB) domains (CNB-B), and here, we characterize a recurrent deletion mutant where the last 14 residues are missing...
December 4, 2016: Journal of Molecular Biology
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#5
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/27803029/prkar1a-gene-knockout-in-the-pancreas-leads-to-neuroendocrine-tumorigenesis
#6
Emmanouil Saloustros, Paraskevi Salpea, Matthew Starost, Sissi Liu, Fabio R Faucz, Edra London, Eva Szarek, Woo-Jin Song, Mehboob Hussain, Constantine A Stratakis
Carney complex (CNC) is a rare disease associated with multiple neoplasias, including a predisposition to pancreatic tumors; it is caused most frequently by the inactivation of the PRKAR1A gene, a regulator of the cyclic AMP (cAMP)-dependent kinase (PKA). The method used was to create null alleles of prkar1a in mouse cells expressing pdx1 (Δ-Prkar1a). We found that these mice developed endocrine or mixed endocrine/acinar cell carcinomas with 100% penetrance by the age of 4-5 months. Malignant behavior of the tumors was seen as evidenced by stromal invasion and metastasis to locoregional lymph nodes...
January 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27801954/the-who-2016-classification-of-testicular-non-germ-cell-tumours-a-review-and-update-from-the-international-society-of-urological-pathology-testis-consultation-panel
#7
REVIEW
Muhammad T Idrees, Thomas M Ulbright, Esther Oliva, Robert H Young, Rodolfo Montironi, Lars Egevad, Daniel Berney, John R Srigley, Jonathan I Epstein, Satish K Tickoo
The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of the germ cell tumours; however, several modifications were also initiated for the non-germ cell tumours...
November 1, 2016: Histopathology
https://www.readbyqxmd.com/read/27795663/computed-optical-interferometric-imaging-methods-achievements-and-challenges
#8
Fredrick A South, Yuan-Zhi Liu, P Scott Carney, Stephen A Boppart
Three-dimensional high-resolution optical imaging systems are generally restricted by the trade-off between resolution and depth-of-field as well as imperfections in the imaging system or sample. Computed optical interferometric imaging is able to overcome these longstanding limitations using methods such as interferometric synthetic aperture microscopy (ISAM) and computational adaptive optics (CAO) which manipulate the complex interferometric data. These techniques correct for limited depth-of-field and optical aberrations without the need for additional hardware...
May 2016: IEEE Journal of Selected Topics in Quantum Electronics
https://www.readbyqxmd.com/read/27766433/midbrain-synchrony-to-envelope-structure-supports-behavioral-sensitivity-to-single-formant-vowel-like-sounds-in-noise
#9
Kenneth S Henry, Kristina S Abrams, Johanna Forst, Matthew J Mender, Erikson G Neilans, Fabio Idrobo, Laurel H Carney
Vowels make a strong contribution to speech perception under natural conditions. Vowels are encoded in the auditory nerve primarily through neural synchrony to temporal fine structure and to envelope fluctuations rather than through average discharge rate. Neural synchrony is thought to contribute less to vowel coding in central auditory nuclei, consistent with more limited synchronization to fine structure and the emergence of average-rate coding of envelope fluctuations. However, this hypothesis is largely unexplored, especially in background noise...
October 20, 2016: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/27756606/screening-for-genetic-causes-of-growth-hormone-hypersecretion
#10
Liliya Rostomyan, Albert Beckers
Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. as aggressive sporadic adenomas or in familial isolated pituitary adenomas (FIPA)) or as part of syndromic conditions such as MEN1 or Carney complex. These tumors have more aggressive features than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to manage...
October 12, 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27742789/novel-genetic-causes-of-pituitary-adenomas
#11
EDITORIAL
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27604735/animal-models-of-posttraumatic-seizures-and-epilepsy
#12
Alexander V Glushakov, Olena Y Glushakova, Sylvain Doré, Paul R Carney, Ronald L Hayes
Posttraumatic epilepsy (PTE) is one of the most common and devastating complications of traumatic brain injury (TBI). Currently, the etiopathology and mechanisms of PTE are poorly understood and as a result, there is no effective treatment or means to prevent it. Antiepileptic drugs remain common preventive strategies in the management of TBI to control acute posttraumatic seizures and to prevent the development of PTE, although their efficacy in the latter case is disputed. Different strategies of PTE prophylaxis have been showing promise in preclinical models, but their translation to the clinic still remains elusive due in part to the variability of these models and the fact they do not recapitulate all complex pathologies associated with human TBI...
2016: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27580546/a-novel-mutation-in-the-type-i%C3%AE-regulatory-subunit-of-protein-kinase-a-prkar1a-in-a-cushing-s-syndrome-patient-with-primary-pigmented-nodular-adrenocortical-disease
#13
Ryohei Mineo, Sachiko Tamba, Yuya Yamada, Tomonori Okita, Yusuke Kawachi, Reiko Mori, Mitsuaki Kyo, Kenji Saisho, Yohei Kuroda, Koji Yamamoto, Akiko Furuya, Tokuo Mukai, Takashi Maekawa, Yasuhiro Nakamura, Hironobu Sasano, Yuji Matsuzawa
A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27566888/timely-screening-for-carney-complex-and-prkar1a-gene-mutations
#14
Jun Feng
No abstract text is available yet for this article.
November 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27535175/growth-hormone-and-risk-for-cardiac-tumors-in-carney-complex
#15
W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, Constantine A Stratakis
Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1)...
September 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27516607/what-is-implementation-science-and-what-forces-are-driving-a-change-in-medical-education
#16
David C Thomas, Arnold Berry, Alexander M Djuricich, Simon Kitto, Kathy O'Kane Kreutzer, Thomas J Van Hoof, Patricia A Carney, Summers Kalishman, Dave Davis
Evidence-based interventions to improve health care and medical education face multiple complex barriers to adoption and success. Implementation science focuses on the period following research dissemination, which is necessary but insufficient to address important gaps in clinician performance and patient outcomes. This article describes the forces on health care institutions, medical schools, physician clinicians, and trainees that have created the imperative to design educational interventions to address the gap between evidence and practice...
August 10, 2016: American Journal of Medical Quality: the Official Journal of the American College of Medical Quality
https://www.readbyqxmd.com/read/27512044/ultrapotent-vinblastines-in-which-added-molecular-complexity-further-disrupts-the-target-tubulin-dimer-dimer-interface
#17
Daniel W Carney, John C Lukesh, Daniel M Brody, Manuela M Brütsch, Dale L Boger
Approaches to improving the biological properties of natural products typically strive to modify their structures to identify the essential pharmacophore, or make functional group changes to improve biological target affinity or functional activity, change physical properties, enhance stability, or introduce conformational constraints. Aside from accessible semisynthetic modifications of existing functional groups, rarely does one consider using chemical synthesis to add molecular complexity to the natural product...
August 30, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27509071/surgical-management-of-carney-complex-associated-pituitary-pathology
#18
Russell R Lonser, Gautam U Mehta, Bogdan A Kindzelski, Abhik Ray-Chaudhury, Alexander O Vortmeyer, Robert Dickerman, Edward H Oldfield
BACKGROUND: Carney complex (CNC) is a familial neoplasia syndrome that is associated with pituitary-associated hypersecretion of growth hormone (GH) (acromegaly). The underlying cause of pituitary GH hypersecretion and its management have been incompletely defined. OBJECTIVE: To provide biological insight into CNC-associated pituitary pathology and improve management, we analyzed findings in CNC patients who underwent transsphenoidal surgery. METHODS: Consecutive CNC patients at the National Institutes of Health with acromegaly and imaging evidence of a pituitary adenoma(s) who underwent transsphenoidal resection of tumor(s) were included...
August 9, 2016: Neurosurgery
https://www.readbyqxmd.com/read/27498419/celecoxib-treatment-of-fibrous-dysplasia-fd-in-a-human-fd-cell-line-and-fd-like-lesions-in-mice-with-protein-kinase-a-pka-defects
#19
Emmanouil Saloustros, Sisi Liu, Edward L Mertz, Nisan Bhattacharyya, Matthew F Starost, Paraskevi Salpea, Maria Nesterova, Michael Collins, Sergey Leikin, Constantine A Stratakis
Osteochondromyxomas (OMX) in the context of Carney complex (CNC) and fibrous dysplasia (FD)-like lesions (FDLL) in mice, as well as isolated myxomas in humans may be caused by inactivation of PRKAR1A, the gene coding for the type 1a regulatory subunit (R1α) of cAMP-dependent protein kinase (PKA). OMXs and FDLL in mice lacking Prkar1a grow from abnormal proliferation of adult bone stromal cells (aBSCs). Prkar1a and Prkaca (coding for Cα) haploinsufficiency leads to COX2 activation and prostaglandin E2 (PGE2) production that, in turn, activates proliferation of aBSCs...
January 5, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27471800/near-infrared-intraoperative-chemiluminescence-imaging
#20
Gabriel E Büchel, Brandon Carney, Travis M Shaffer, Jun Tang, Christine Austin, Manish Arora, Brian M Zeglis, Jan Grimm, Jörg Eppinger, Thomas Reiner
Intraoperative imaging technologies recently entered the operating room, and their implementation is revolutionizing how physicians plan, monitor, and perform surgical interventions. In this work, we present a novel surgical imaging reporter system: intraoperative chemiluminescence imaging (ICI). To this end, we have leveraged the ability of a chemiluminescent metal complex to generate near-infrared light upon exposure to an aqueous solution of Ce(4+) in the presence of reducing tissue or blood components. An optical camera spatially resolves the resulting photon flux...
September 20, 2016: ChemMedChem
keyword
keyword
35908
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"