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https://www.readbyqxmd.com/read/29900146/clinical-manifestations-and-molecular-biology-of-one-case-of-carney-complex-a-case-report
#1
Mengxue Yang, Biao Long, Jie Xu, Jie Yu, Xianwen Li, Fanhao Ye, Bo Yang, Yulan Liao, Sicheng Li, Ya Li, Xue Zhou
Carney complex (CNC) is a rare genetic disease. Here, we report a case of CNC and explore clinical manifestations and gene mutation studies of CNC. A male patient with CNC at the age of 16 yr was admitted to Affiliated Hospital of Zunyi Medical University in July, 2015. Although the patient had typical signs of Cushing's syndrome, he also presented with certain rare signs of Cushing's syndrome, such as "freckle-like" scattered spots of pigmentation on the face and around the lips. In addition, concomitant severe osteoporosis led to flattened vertebrae and the compression of corresponding levels of the spinal cord...
April 2018: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29882482/deletion-of-rap1b-but-not-rap1a-or-epac1-reduces-pka-mediated-thyroid-cancer
#2
Danielle Huk, Amruta Ashtekar, Alexa Magner, Krista La Perle, Lawrence S Kirschner
BACKGROUND: Thyroid cancer is an emerging health problem in the United States and Worldwide. With incidence rates of thyroid cancer rapidly rising, the need to develop new treatment options is becoming a priority, and understanding the molecular mechanisms of this disease is crucial to furthering these efforts. Thyroid growth is driven by the TSH/cAMP/PKA signaling pathway, and we have previously shown that activation of PKA through genetic ablation of the regulatory subunit Prkar1a (Prkar1a KO) is sufficient to cause follicular thyroid cancer in mouse models...
June 8, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29846607/circadian-rhythm-of-glucocorticoid-administration-entrains-clock-genes-in-immune-cells-a-dream-trial-ancillary-study
#3
Mary Anna Venneri, Valeria Hasenmajer, Daniela Fiore, Emilia Sbardella, Riccardo Pofi, Chiara Graziadio, Daniele Gianfrilli, Claudia Pivonello, Mariarosaria Negri, Fabio Naro, Ashley B Grossman, Andrea Lenzi, Rosario Pivonello, Andrea M Isidori
Context: Adrenal insufficiency (AI) requires life-long glucocorticoid replacement. Conventional therapies fail to mimic the endogenous cortisol circadian rhythm. Clock genes are essential components of the molecular machinery controlling an organ's circadian function and are influenced by glucocorticoids. However, clock gene expression has never been investigated in AI patients. Objective: To evaluate the effect of the timing of glucocorticoid administration on circadian gene expression in peripheral blood mononuclear cells (PBMCs) of AI patients from the DREAM trial...
May 25, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29771690/heavily-pigmented-epithelioid-melanoma-with-loss-of-protein-kinase-a-regulatory-subunit-%C3%AE-expression
#4
Jarish N Cohen, Jessica A Spies, Fawn Ross, Angela Bohlke, Timothy H McCalmont
Heavily pigmented melanocytic neoplasms are genotypically and phenotypically diverse. Recently, a subset of this histopathologic spectrum was shown to harbor recurrent genetic alterations in the gene-encoding protein kinase A regulatory subunit-α (PRKAR1A). To date, no histopathologic descriptions of melanomas arising from this pathway have been described. We present a case of a darkly pigmented papule arising on the posterior neck of a 28-year-old man. Microscopically, the heavily pigmented compound melanocytic proliferation was centered in the dermis with permeation into the superficial subcutis...
May 16, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29726992/interaction-of-aip-with-protein-kinase-a-camp-dependent-protein-kinase
#5
Marie Helene Schernthaner-Reiter, Giampaolo Trivellin, Constantine A Stratakis
Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause mostly somatotropinomas and/or prolactinomas in a subset of familial isolated pituitary adenomas (FIPA). AIP has been shown to interact with phosphodiesterases (PDEs) and G proteins, suggesting a link to the cyclic AMP (cAMP)-dependent protein kinase (PKA) pathway. Upregulation of PKA is seen in sporadic somatotropinomas that carry GNAS1 mutations, and those in Carney complex that are due to PRKAR1A mutations. To elucidate the mechanism of AIP-dependent pituitary tumorigenesis, we studied potential functional and physical interactions of AIP with PKA's main subunits PRKAR1A (R1α) and PRKACA (Cα)...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29666959/carney-complex-a-case-with-thyroid-follicular-adenoma-without-a-prkar1a-mutation
#6
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/29625227/anxiety-like-behavior-and-other-consequences-of-early-life-stress-in-mice-with-increased-protein-kinase-a-activity
#7
Maddalena Ugolini, Margaret F Keil, Enrica Paradiso, John Wu, Constantine A Stratakis
Anxiety disorders are associated with abnormalities in fear-learning and bias to threat; early life experiences are influential to the development of an anxiety-like phenotype in adulthood. We recently reported that adult mice (Prkar1a+/-) with haploinsufficiency for the main regulatory subunit of the protein kinase A (PKA) exhibit an anxiety-like phenotype associated with increased PKA activity in the amygdala. PKA is the main effector of cyclic adenosine mono-phosphate signaling, a key pathway involved in the regulation of fear learning...
April 3, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29594118/the-many-faces-of-primary-aldosteronism-and-cushing-syndrome-a-reflection-of-adrenocortical-tumor-heterogeneity
#8
REVIEW
Ozgur Mete, Kai Duan
Adrenal cortical tumors constitute a heterogeneous group of neoplasms with distinct clinical, morphological, and molecular features. Recent discoveries of specific genotype-phenotype correlations in adrenal cortical adenomas have transformed our understanding of their respective endocrine syndromes. Indeed, a proportion of patients with primary aldosteronism are now known to harbor adrenal cortical adenomas with heterogeneous molecular alterations ( KCNJ5, ATP1A1, ATP2B3 , and CACNA1D ) involving the calcium/calmodulin kinase signaling pathway...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29561454/recurrent-left-atrial-myxoma-in-carney-complex-a-case-report-of-a-familial-pedigree
#9
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/29518347/dietary-genistein-supplementation-in-laying-broiler-breeder-hens-alters-the-development-and-metabolism-of-offspring-embryos-as-revealed-by-hepatic-transcriptome-analysis
#10
Zengpeng Lv, Hao Fan, Beibei Zhang, Chao Ning, Kun Xing, Yuming Guo
Genistein (GEN) is a type of isoflavone mainly derived from soy products. In this experiment, we added 40 and 400 mg/kg GEN to the diet of laying broiler breeder hens to clarify the maternal effects of GEN on the development and metabolism of chick embryos. GEN treatment at 40 mg/kg increased embryonic length, weight, and liver index, as well as the width of the proliferative zone in the tibial growth plate of chick embryos. Gene ontology (GO) cluster analysis of the hepatic transcriptome showed that GEN treatment promoted embryonic development and cell proliferation...
March 8, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29499646/what-to-consider-when-pseudohypoparathyroidism-is-ruled-out-ippsd-and-differential-diagnosis
#11
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29498920/update-on-the-clinicopathology-of-pituitary-adenomas
#12
Chung Thong Lim, Márta Korbonits
Pituitary adenomas are the third most common central nervous system tumours and arise from the anterior pituitary within the pituitary fossa. The signs and symptoms of patients with pituitary adenomas vary from 'mass effects' caused by a large adenoma to features secondary to excess pituitary hormones produced by the functioning pituitary adenoma. Detailed histopathological assessment, based on novel classifications and the latest WHO guidelines, helps to categorise pituitary adenomas into different subtypes and identify features that, in some cases, help to predict their behaviour...
March 2, 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29416916/genotyping-and-mrna-profiling-reveal-actionable-molecular-targets-in-biliary-tract-cancers
#13
Kyriaki Papadopoulou, Samuel Murray, Kyriaki Manousou, Ioannis Tikas, Christos Dervenis, Joseph Sgouros, Dimitra Rontogianni, Sotirios Lakis, Mattheos Bobos, Christos Poulios, Stavroula Pervana, Georgios Lazaridis, George Fountzilas, Vassiliki Kotoula
Biliary tract cancer (BTC) represents a heterogeneous disease with dismal outcome. Herein, we examined genotype and angiogenesis features in BTC. We applied genotyping (Sanger, qPCR, 101-gene panel NGS), mRNA relative quantification methods, and β-catenin immunohistochemistry in 84 FFPE BTC (55 gallbladder [GBC], 14 intrahepatic [ICC], 15 extrahepatic [ECC] carcinomas). We identified 541 mutations in 68 (81%) tumors. Top mutated genes were CTNNB1 (36%); PTEN (33%); TP53 (31%); PIK3R1 (29%); PIK3CA (13%); BRCA2 and KRAS (12%); BRCA1 (11%)...
2018: American Journal of Cancer Research
https://www.readbyqxmd.com/read/29390296/carney-complex-with-prkar1a-gene-mutation-a-case-report-and-literature-review
#14
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/29371938/large-scale-copy-number-analysis-reveals-variations-in-genes-not-previously-associated-with-malignant-pleural-mesothelioma
#15
Marieke Hylebos, Guy Van Camp, Geert Vandeweyer, Erik Fransen, Matthias Beyens, Robin Cornelissen, Arvid Suls, Patrick Pauwels, Jan P van Meerbeeck, Ken Op de Beeck
Malignant pleural mesothelioma (MPM) is an aggressive tumor that is often causally associated with asbestos exposure. Comparative genomic hybridization techniques and arrays demonstrated a complex set of copy number variations (CNVs) in the MPM-genome. These techniques however have a limited resolution, throughput and flexibility compared to next-generation sequencing platforms. In this study, the presence of CNVs in the MPM-genome was investigated using an MPM-cohort ( N = 85) for which genomic microarray data are available through 'The Cancer Genome Atlas' (TCGA)...
December 26, 2017: Oncotarget
https://www.readbyqxmd.com/read/29327716/genomic-heterogeneity-of-alk-fusion-breakpoints-in-non-small-cell-lung-cancer
#16
Jason N Rosenbaum, Ryan Bloom, Jason T Forys, Jeff Hiken, Jon R Armstrong, Julie Branson, Samantha McNulty, Priya D Velu, Kymberlie Pepin, Haley Abel, Catherine E Cottrell, John D Pfeifer, Shashikant Kulkarni, Ramaswamy Govindan, Eric Q Konnick, Christina M Lockwood, Eric J Duncavage
In lung adenocarcinoma, canonical EML4-ALK inversion results in a fusion protein with a constitutively active ALK kinase domain. Evidence of ALK rearrangement occurs in a minority (2-7%) of lung adenocarcinoma, and only ~60% of these patients will respond to targeted ALK inhibition by drugs such as crizotinib and ceritinib. Clinically, targeted anti-ALK therapy is often initiated based on evidence of an ALK genomic rearrangement detected by fluorescence in situ hybridization (FISH) of interphase cells in formalin-fixed, paraffin-embedded tissue sections...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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
#17
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/29289659/elevated-aggressive-behavior-in-male-mice-with-thyroid-specific-prkar1a-and-global-epac1-gene-deletion
#18
Kathryn L G Russart, Danielle Huk, Randy J Nelson, Lawrence S Kirschner
Alterations in circulating thyroid hormone concentrations are associated with several psychological and behavioral disorders. In humans, behavioral disorders such as anxiety, depression, and attention-deficit hyperactivity disorder can be associated with thyroid disease. The Tpo-Cre;Prkar1aflox/flox ;Epac1-/- (R1A-Epac1KO) mice, originally bred to investigate the role of exchange protein directly activated by cAMP (Epac1) in follicular thyroid cancer, displayed self-mutilating and aggressive behaviors during casual observation...
February 2018: Hormones and Behavior
https://www.readbyqxmd.com/read/29280743/current-nomenclature-of-pseudohypoparathyroidism-inactivating-parathyroid-hormone-parathyroid-hormone-related-protein-signaling-disorder
#19
Serap Turan
Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. The classification of PHP is further divided into PHP-Ia, pseudo-PHP (pPHP), PHP-Ib, PHP-Ic and PHP-II according to the presence or absence of AHO, together with an in vivo response to exogenous PTH and the measurement of Gsα protein activity in peripheral erythrocyte membranes in vitro...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29237939/a-novel-mutation-of-prkar1a-caused-carney-complex-in-a-chinese-patient
#20
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
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