Read by QxMD icon Read

Carney Complex

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
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
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
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
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
Jun Feng
No abstract text is available yet for this article.
November 2016: Journal of Thoracic and Cardiovascular Surgery
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
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
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
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
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 lead to COX2 activation and prostaglandin E2 (PGE2) production that, in turn, activates proliferation of aBSCs...
August 4, 2016: Molecular and Cellular Endocrinology
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
Judith Ng, David G Munoz
A 20-year-old woman presenting with a pelvic mass identified as a psammomatous melanotic schwannoma (PMS) with atypical histological features was later found to have family history of cardiac myxomas consistent with Carney's complex. The BRAF V600E mutation was absent in the tumor.
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Adam Alleemudder, Rajiv Pillai
We describe the case of a 7-year-old boy who presented with testicular pain but was found to have bilateral testicular lesions later confirmed as Sertoli cell tumors. Genetic testing confirmed a PRKAR1A gene mutation consistent with Carney complex, a rare genetic disorder characterized by skin lesions, myxomas, and multiple endocrine neoplasms. A review of the condition is made highlighting the association with testicular tumors, particularly of Sertoli cell origin.
July 2016: Urology Annals
Erin K Thayer, Daniel Rathkey, Marissa Fuqua Miller, Ryan Palmer, George C Mejicano, Martin Pusic, Adina Kalet, Colleen Gillespie, Patricia A Carney
ISSUE: Medical educators and educational researchers continue to improve their processes for managing medical student and program evaluation data using sound ethical principles. This is becoming even more important as curricular innovations are occurring across undergraduate and graduate medical education. Dissemination of findings from this work is critical, and peer-reviewed journals often require an institutional review board (IRB) determination. APPROACH: IRB data repositories, originally designed for the longitudinal study of biological specimens, can be applied to medical education research...
2016: Medical Education Online
Ralf H J M Kurvers, Stefan M Herzog, Ralph Hertwig, Jens Krause, Patricia A Carney, Andy Bogart, Giuseppe Argenziano, Iris Zalaudek, Max Wolf
Collective intelligence refers to the ability of groups to outperform individual decision makers when solving complex cognitive problems. Despite its potential to revolutionize decision making in a wide range of domains, including medical, economic, and political decision making, at present, little is known about the conditions underlying collective intelligence in real-world contexts. We here focus on two key areas of medical diagnostics, breast and skin cancer detection. Using a simulation study that draws on large real-world datasets, involving more than 140 doctors making more than 20,000 diagnoses, we investigate when combining the independent judgments of multiple doctors outperforms the best doctor in a group...
August 2, 2016: Proceedings of the National Academy of Sciences of the United States of America
Paulina Szyszka, Ashley B Grossman, Salvador Diaz-Cano, Krzysztof Sworczak, Dorota Dworakowska
Adrenocortical carcinoma is associated with a low cure rate and a high recurrence rate. The prognosis is poor, and at diagnosis 30-40% of cases are already metastatic. The current therapeutic options (surgical resection, followed by adjuvant mitotane treatment +/- chemotherapy) are limited, and the results remain unsatisfactory. Key molecular events that contribute to formation of adrenocortical cancer are IGF2 overexpression, TP53-inactivating mutations, and constitutive activation of the Wnt/b-catenin signalling pathway via activating mutations of the b-catenin gene...
2016: Endokrynologia Polska
Labrini Papanastasiou, Stelios Fountoulakis, Nikos Voulgaris, Theodora Kounadi, Theodosia Choreftaki, Akrivi Kostopoulou, George Zografos, Charalampos Lyssikatos, Constantine A Stratakis, George Piaditis
OBJECTIVE: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report. CASE REPORT: A 53-year-old male with a medical history of surgically removed recurrent cardiac myxomas was evaluated for repeated low-pressure vertebral fractures and severe osteoporosis...
January 2016: Hormones: International Journal of Endocrinology and Metabolism
S Kellner, D Beug, K Empen, S B Felix, A Hummel
Multiple skin lesions, endocrine dysfunction and cardiac myxomas are characteristic symptoms of Carney complex. This case report gives an overview about the major and minor criteria of Carney complex and presents the course of a female patient who developed severe cardiac insufficiency with multiple organ failure because of recurring heart operations leading to implantation of a left ventricular assist device (LVAD).
September 2016: Der Internist
M A Aguileta, D Rojas-Rivera, V Goossens, Y Estornes, G Van Isterdael, P Vandenabeele, M J M Bertrand
The endoplasmic reticulum (ER) has a crucial role in the proper folding of proteins that are synthesized in the secretory pathway. Physiological and pathological conditions can induce accumulation of mis- or unfolded proteins in the ER lumen and thereby generate a state of cellular stress known as ER stress. The unfolded protein response aims at restoring protein-folding homeostasis, but turns into a toxic signal when ER stress is too severe or prolonged. ER stress-induced cellular dysfunction and death is associated with several human diseases, but the molecular mechanisms regulating death under unresolved ER stress are still unclear...
October 2016: Cell Death and Differentiation
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"