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Carney Complex

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https://www.readbyqxmd.com/read/29666959/carney-complex-a-case-with-thyroid-follicular-adenoma-without-a-prkar1a-mutation
#1
Shinji Hattori, Yukou Yamane, Ryoichi Shimomura, Yuki Uchida, Nobuhiko Toyota, Yoshio Miura, Setsujyo Shiota, Yoshitsugu Tajima
BACKGROUND: Carney complex (CNC) is a very rare disease. Although thyroid lesions are included in the diagnostic criteria for CNC, they are an infrequent occurrence. CASE PRESENTATION: The patient was a 69-year-old woman who had undergone the removal of a left atrial myxoma 10 years earlier, at the age of 59. At the time of the operation, thyroid ultrasonography (US) revealed multiple hypoechoic nodules. Thyroid scintigraphy revealed an increased uptake of 99m Tc in these lesions, which was consistent with toxic multinodular goiter, and she was diagnosed with CNC...
April 17, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/29603324/complexities-of-perceived-and-actual-performance-in-pathology-interpretation-a-comparison-of-cutaneous-melanocytic-skin-and-breast-interpretations
#2
Patricia A Carney, Paul D Frederick, Lisa M Reisch, Linda Titus, Stevan R Knezevich, Martin A Weinstock, Michael W Piepkorn, Raymond L Barnhill, David E Elder, Donald L Weaver, Joann G Elmore
BACKGROUND: Little is known about how pathologists process differences between actual and perceived interpretations. OBJECTIVE: To compare perceived and actual diagnostic agreement before and after educational interventions. METHODS: Pathologists interpreted test sets of skin and/or breast specimens that included benign, atypical, in situ and invasive lesions. Interventions involved self-directed learning, one skin and one breast, that showed pathologists how their interpretations compared to a reference diagnoses...
March 30, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29565796/the-bedside-capacity-assessment-tool-further-development-of-a-clinical-tool-to-assist-with-a-growing-aging-population-with-increased-healthcare-complexities
#3
Maria Torroella Carney, Brian Emmert, Brian Keefer
BACKGROUND: As the population of the United States ages, chronic diseases increase and treatment options become technologically more complicated. As such, patients' autonomy, or the right of patients to accept or refuse a medical treatment, may become a more pressing and complicated issue. This autonomy rests upon a patient's capacity to make a decision. As more older, cognitively and functionally impaired individuals enter healthcare systems, quality assessments of decision-making capacity must be made...
2018: Journal of Clinical Ethics
https://www.readbyqxmd.com/read/29561454/recurrent-left-atrial-myxoma-in-carney-complex-a-case-report-of-a-familial-pedigree
#4
Liaoyuan Wang, Qing Wang, Yue Zhou, Qian Xue, Xiao Sun, Zhinong Wang, Guangyu Ji
RATIONALE: Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection. PRESENTING CONCERNS: The recurrence of cardiac myxoma was detected in a 45-year-old male by echocardiography 5 years after the resection was carried out, without any additional symptoms...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29542870/left-ventricular-myxoma-with-carney-complex
#5
Naoto Kuyama, Yasuhiro Hamatani, Satsuki Fukushima, Yoshihiko Ikeda, Eri Nakai, Atsushi Okada, Hiroyuki Takahama, Makoto Amaki, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Tomoyuki Fujita, Hatsue Ishibashi-Ueda, Satoshi Yasuda, Toshihisa Anzai, Junjiro Kobayashi
The left ventricle is a less frequent location of cardiac myxomas overall. Meanwhile, cardiac myxomas related to Carney complex (CNC), which is a multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumours, more frequently occur in the left ventricle compared with sporadic cardiac myxomas. Herein, we report a case of a 20-year-old woman with CNC who underwent complete surgical excision of a large and mobile left ventricular myxoma. In our case, echocardiography performed 4 years earlier was normal...
March 15, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29483466/-asymptomatic-cardiac-myxoma-complicated-with-carney-complex-report-of-a-case
#6
Daichi Akiyama, Hiroshi Okada, Takashi Ando, Makoto Takeda
Carney complex(CNC) is a rare genetic syndrome, characterized by spotty pigmentation of the skin, cardiac myxomas and multiple endocrine tumors. We present a case of asymptomatic cardiac myxoma associated with CNC. She was 49 year-old healthy woman whose son was known to have CNC. She was also diagnosed as CNC due to her family history, typical cutaneous findings and screening endocrine test. Screening ultrasound echocardiography resulted in discovering her asymptomatic left atrial myxoma of 30 mm size. Tumor was successfully resected via median sternotomy and no signs of recurrence were observed at 1 year follow up...
February 2018: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/29481407/gender-affirming-surgery-in-persons-with-gender-dysphoria
#7
Jason M Weissler, Brian L Chang, Martin J Carney, David Rengifo, Charles A Messa, David B Sarwer, Ivona Percec
The landscape of gender dysphoria has changed dramatically in recent years secondary to increased societal acceptance, legislative changes, and medical providers' increased awareness of the associated psychosocial burden associated with the diagnosis. National and global advocacy efforts, in conjunction with expanded third-party insurance coverage, have resulted in new health care opportunities for patients suffering from gender dysphoria. Delivering quality, streamlined health care to these patients requires a complex multidisciplinary approach, involving multiple medical and mental health disciplines, including plastic surgeons...
March 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29390296/carney-complex-with-prkar1a-gene-mutation-a-case-report-and-literature-review
#8
REVIEW
Qiuli Liu, Dali Tong, Gaolei Liu, Yuting Yi, Dianzheng Zhang, Jun Zhang, Yao Zhang, Zaoming Huang, Yaoming Li, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang
RATIONALE: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS: A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin pigmentation on his face, lip, and sclera...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29372846/pathology-of-melanotic-schwannoma
#9
Borislav A Alexiev, Pauline M Chou, Lawrence J Jennings
CONTEXT: - Melanotic schwannoma (MS) is a nerve sheath tumor with a uniform composition of variably melanin-producing Schwann cells and metastatic potential. The MS is an uncommon neoplasm, accounting for less than 1% of all nerve sheath tumors, with a predilection for spinal nerve involvement. Microscopically, the tumors are characterized by spindle and epithelioid cells arranged in interlacing fascicles, with marked accumulation of melanin in neoplastic cells and associated melanophages...
January 26, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#10
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29323076/familial-biatrial-cardiac-myxoma-with-glandular-elements-a-rare-entity-with-review-of-literature
#11
Devajit Nath, Sudheer Arava, Ruma Ray, Amol Kumar Bhoje, Rachit Saxena, Shiv Kumar Chaudhary
Cardiac myxomas are benign neoplasm of the heart with an incidence of 0.3%. Glandular cardiac myxomas are very rare and accounts for less than 3% of all cardiac myxomas. Here, we report a case of familial glandular cardiac myxoma in a 35 year old male who complained of exertional dyspneoa and weakness of right side of body on clinical presentation. Associated features of Carney's complex were not present. Family history revealed presence of cardiac myxoma in younger brother and sister. Transthoracic echocardiography detected biatrial myxoma...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29318463/a-novel-splice-site-mutation-of-the-prkar1a-gene-c-440-5-g-c-in-a-chinese-family-with-carney-complex
#12
J Fu, F Lai, Y Chen, X Wan, G Wei, Y Li, H Xiao, X Cao
BACKGROUND: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC. METHODS: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Whole blood samples of this pedigree were collected for DNA/RNA analysis. Polymerase chain reaction (PCR) and reverse-transcription polymerase chain reaction analyses were performed to amplify the 11 exons and adjacent introns of PRKAR1A...
January 9, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29239041/hereditary-and-familial-thyroid-tumours
#13
REVIEW
Julie Guilmette, Vania Nosé
The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Hereditary thyroid neoplasms arising from calcitonin-producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well-documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239034/succinate-dehydrogenase-sdh-deficient-neoplasia
#14
REVIEW
Anthony J Gill
The succinate dehydrogenase (SDH) complex is a key respiratory enzyme composed of four subunits: SDHA, SDHB, SDHC and SDHD. Remarkably, immunohistochemistry for SDHB becomes negative whenever there is bi-alleic inactivation of any component of SDH, which is very rare in the absence of syndromic disease. Therefore, loss of SDHB immunohistochemistry serves as a marker of syndromic disease, usually germline mutation of one of the SDH subunits. Tumours which show loss of SDHB expression are termed succinate dehydrogenase-deficient...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29237939/a-novel-mutation-of-prkar1a-caused-carney-complex-in-a-chinese-patient
#15
Xiao-Ling Cai, Jing Wu, Ying-Ying Luo, Ling Chen, Xue-Yao Han, Li-Nong Ji
No abstract text is available yet for this article.
December 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29234618/carney-complex-eleven-open-heart-operations-in-a-single-family
#16
Sung Joon Han, Woosik Han, Min-Woong Kang, Jae Hyeon Yu, Shinkwang Kang, Myung Hoon Na
Herein, we report on a family with Carney complex. Four members of the family underwent a total of 11 open heart operations as well as 9 other operations to treat extrathoracic masses. All the family members met at least 2 major clinical criteria and 1 supplemental criterion. We analyzed their genomic loci, including the protein kinase A regulatory subunit 1 gene. The results revealed no specific mutations, except for a common single nucleotide polymorphism. This case series of Carney complex emphasizes the importance of close longitudinal follow-up because of the high rate of tumor recurrence irrespective of the site...
December 2017: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29233839/genetics-of-tumors-of-the-adrenal-cortex
#17
REVIEW
Fidéline Bonnet-Serrano, Jérôme Bertherat
This review describes the molecular alterations observed in the various types of tumors of the adrenal cortex, excluding Conn adenomas, especially the alterations identified by genomic approaches these last five years. Two main forms of bilateral adrenocortical tumors can be distinguished according to size and aspect of the nodules: primary pigmented nodular adrenal disease (PPNAD), which can be sporadic or part of Carney complex and primary bilateral macro nodular adrenal hyperplasia (PBMAH). The bilateral nature of the tumors suggests the existence of an underlying genetic predisposition...
March 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29222914/fibrolamellar-carcinoma-in-the-carney-complex-prkar1a-loss-instead-of-the-classic-dnajb1-prkaca-fusion
#18
P Graham Rondell, Karoline Lackner, Luigi Terracciano, Yessica González-Cantú, Joseph J Maleszewski, Patricia T Greipp, Sanford M Simon, Michael S Torbenson
Fibrolamellar carcinomas are characterized by activation of protein kinase A, a kinase composed of catalytic and regulatory subunits. PRKACA encodes a catalytic subunit of protein kinase A and almost all fibrolamellar carcinomas have a heterozygous 400kb deletion that leads to the fusion of DNAJB1 and PRKACA. The resulting DNAJB1-PRKACA fusion transcript is believed to activate protein kinase A by dysregulation of the catalytic portion of the protein. In contrast, PRKAR1A encodes one of the regulatory subunits of protein kinase A...
December 9, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29214333/primary-cardiac-tumors-associated-with-genetic-syndromes-a-comprehensive-review
#19
REVIEW
Elizabeth Lee, Maryam Ghadimi Mahani, Jimmy C Lu, Adam L Dorfman, Ashok Srinivasan, Prachi P Agarwal
Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management.
February 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29205368/cyclic-amp-dependent-protein-kinase-catalytic-subunit-a-prkaca-the-expected-the-unexpected-and-what-might-be-next
#20
Constantine A Stratakis
Protein kinase A (PKA) or cyclic-AMP (cAMP)-dependent kinase was among the first serine-threonine kinases to be molecularly and functionally characterized. For years, it was investigated as the enzyme that mediates cAMP functions in almost all cell systems and organisms studied to date. Despite PKA's critical role in signaling and the long history of investigations of cAMP in oncogenesis (dating back to the 1970s), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition...
March 2018: Journal of Pathology
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