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Carney's Syndrome

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https://www.readbyqxmd.com/read/27875378/cushing-syndrome-in-carney-complex-clinical-pathologic-and-molecular-genetic-findings-in-the-17-affected-mayo-clinic-patients
#1
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/27867588/an-unusual-case-of-incomplete-carney-triad-an-18-year-old-girl-suffering-from-multiple-benign-tumors
#2
Guan Shi, Yong Cui, Ying He, Min Gong
Carney triad is a rare syndrome that involves gastrointestinal stromal tumor (GIST), pulmonary chondroma and extra-adrenal paraganglioma. Patients presenting GIST and pulmonary chondroma account for 72.7% of all incomplete Carney triad cases. Clinically, it is mainly diagnosed by radiological images and pathological results. Some studies have elucidated the pathogenesis of Carney triad. Surgical resection is the preferred treatment for Carney triad. Generally speaking, the prognosis of patients with Carney triad has been satisfied...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#3
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/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
#4
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/27756606/screening-for-genetic-causes-of-growth-hormone-hypersecretion
#5
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
#6
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/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
#7
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/27535175/growth-hormone-and-risk-for-cardiac-tumors-in-carney-complex
#8
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/27509071/surgical-management-of-carney-complex-associated-pituitary-pathology
#9
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/27427238/-wild-type-gist-clinicopathological-features-and-clinical-practice
#10
REVIEW
Ryuichi Wada, Hiroki Arai, Shoko Kure, Wei-Xia Peng, Zenya Naito
Gastrointestinal stromal tumor (GIST) is a mesenchymal tumor of the gastrointestinal tract. Mutation of KIT and PDGFRA genes is implicated in the tumorigenesis. Approximately 10% of GISTs do not harbor mutation of these genes, and they are designated as "wild type" GIST. They are classified into succinate dehydrogenase (SDH)-deficient and non-SDH-deficient groups. SDH-deficient group includes Carney triad and Carney Stratakis syndrome. The patients are young women. Tumors occur in the antrum of the stomach, and tumor cells are epithelioid...
August 2016: Pathology International
https://www.readbyqxmd.com/read/27388041/nuclear-countermeasure-activity-of-tp508-linked-to-restoration-of-endothelial-function-and-acceleration-of-dna-repair
#11
Barbara Olszewska-Pazdrak, Scott D McVicar, Kempaiah Rayavara, Stephanie M Moya, Carla Kantara, Chris Gammarano, Paulina Olszewska, Gerald M Fuller, Laurie E Sower, Darrell H Carney
There is increasing evidence that radiation-induced damage to endothelial cells and loss of endothelial function may contribute to both acute radiation syndromes and long-term effects of whole-body nuclear irradiation. Therefore, several drugs are being developed to mitigate the effects of nuclear radiation, most of these drugs will target and protect or regenerate leukocytes and platelets. Our laboratory has demonstrated that TP508, a 23-amino acid thrombin peptide, activates endothelial cells and stem cells to revascularize and regenerate tissues...
August 2016: Radiation Research
https://www.readbyqxmd.com/read/27387247/molecular-pathways-of-human-adrenocortical-carcinoma-translating-cell-signalling-knowledge-into-diagnostic-and-treatment-options
#12
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
https://www.readbyqxmd.com/read/27377598/identification-of-a-novel-mutation-of-the-prkar1a-gene-in-a-patient-with-carney-complex-with-significant-osteoporosis-and-recurrent-fractures
#13
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
https://www.readbyqxmd.com/read/27366278/non-psammomatous-melanocytic-schwannoma-presenting-as-a-subcutaneous-nodule-a-rare-presentation-of-a-rare-lesion
#14
Harveen Kaur Gulati, Avinash R Joshi, Mani Anand, S D Deshmukh
Melanocytic schwannoma (MS) is an extremely rare soft tissue tumor accounting for less than 1% of all primitive nerve sheath tumors, with a predilection for spinal nerve involvement. To date, only 20 cases of cutaneous/subcutaneous MS have been described in literature. Here, we describe a case of MS presenting as a subcutaneous nodule in a 22-year-old male in right thigh. On examination, the nodule measured 2.5 × 2.0 × 1.5 cm with overlying skin showing a bluish hue and an ulcer. With a preoperative diagnosis of hemangioma, the patient was taken up for wide local excision and was diagnosed as a case of non psammomatous melanocytic schwannoma based on clinical, histological, and immunohistochemical studies...
July 2016: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/27340750/conventional-risk-stratification-fails-to-predict-progression-of-succinate-dehydrogenase-deficient-gastrointestinal-stromal-tumors-a-clinicopathologic-study-of-76-cases
#15
Emily F Mason, Jason L Hornick
Gastrointestinal stromal tumors (GISTs) that lack kinase mutations often show loss of function of the succinate dehydrogenase (SDH) complex, due to germline mutation or promoter hypermethylation. SDH-deficient GISTs are exclusive to the stomach and have a multinodular architecture. It has been suggested that conventional risk stratification criteria may not predict outcome for this group of tumors, although data are limited. Here, we report the clinical, histologic, and genetic findings from a large cohort of 76 SDH-deficient GISTs diagnosed from 2005 to 2015, identified on the basis of histologic features or family history (45 female/31 male; mean age at diagnosis 32 y; range 11 to 71 y; 10 patients 50 y of age or above)...
June 23, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27302498/perforated-second-trimester-appendicitis-with-abdominal-compartment-syndrome-managed-with-negative-pressure-wound-therapy-and-open-abdomen
#16
Adam R Turnock, Brian P Fleischer, Martin J Carney, Wesley B Vanderlan
Abdominal compartment syndrome (ACS) is a known complication of laparotomy; however, the literature is lacking in regards to treatment of this entity in pregnant patients. We present a case of acute perforated appendicitis in a second trimester primagravida, complicated by gangrenous necrosis of the contiguous bowel with subsequent development of ACS and intra-abdominal sepsis. This was treated with a novel approach, using non-commercial negative pressure wound therapy and open abdomen technique. Gestational integrity was preserved and the patient went on to experience a normal spontaneous vaginal delivery...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27241108/gynecologic-manifestations-of-less-commonly-encountered-hereditary-syndromes
#17
REVIEW
Deborah F DeLair, Robert A Soslow
This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases...
June 2016: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/27177589/conjunctival-myxoma-atypical-presentation-of-a-rare-tumour-case-report-and-review-of-literature
#18
Neharika Sharma, Stephen O'Hagan, Gael Phillips
BACKGROUND: Conjunctival myxomas are rare, benign, connective tissue tumours that classically present as slow-growing, painless, well-circumscribed masses (Arch Ophthalmol 124:735-8, 2006; Case Rep Ophthalmol 3:145-50, 2012). There have been 29 cases reported in the literature (Arch Ophthalmol 124:735-8, 2006; Malays J Med Sci 20(1):92-4, 2013; Case Rep Ophthalmol 3:145-50, 2012; Middle East Afr J Ophthalmol 19(3):353-3, 2012). We present a case with atypical features, and emphasize the importance of excisional biopsies for diagnosing indeterminate conjunctival lesions...
2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27164714/rotigotine-s-effect-on-plm-associated-blood-pressure-elevations-in-restless-legs-syndrome-an-rct
#19
Axel Bauer, Werner Cassel, Heike Benes, Karl Kesper, David Rye, Domenic Sica, John W Winkelman, Lars Bauer, Frank Grieger, Lars Joeres, Kimberly Moran, Erwin Schollmayer, John Whitesides, Hannah C Carney, Arthur S Walters, Wolfgang Oertel, Claudia Trenkwalder
OBJECTIVE: This double-blind, placebo-controlled, interventional trial was conducted to investigate the effects of rotigotine patch on periodic limb movement (PLM)-associated nocturnal systolic blood pressure (SBP) elevations. METHODS: Patients with moderate to severe restless legs syndrome (RLS) were randomized to rotigotine (optimal dose [1-3 mg/24 h]) or placebo. Continuous beat-to-beat blood pressure (BP) assessments were performed during polysomnography at baseline and at the end of 4-week maintenance...
May 10, 2016: Neurology
https://www.readbyqxmd.com/read/27135590/cape-capture-amplify-extract-a-rapid-method-for-detection-of-low-level-contamination-of-water-with-verocytotoxigenic-escherichia-coli-vtec
#20
Dearbháile Morris, Siobhán Kavanagh, Karen Carney, Brian MacDomhnaill, Martin Cormican
Verocytotoxigenic Escherichia coli (VTEC) is associated with a wide spectrum of disease from mild self-limiting diarrhoea to haemolytic uremic syndrome. Contaminated drinking water is accepted as an important route of transmission in Ireland as elsewhere however established methods for detection of VTEC in drinking water have limitations. We describe a sensitive and rapid method for detection of VTEC from large volumes (20 to 30L) of drinking water based on filtration, enrichment culture of filters and real-time PCR detection of VTEC virulence and O antigen determinants from enrichments...
September 1, 2016: Science of the Total Environment
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