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https://www.readbyqxmd.com/read/28329921/neuroendocrine-tumors-in-the-stomach-duodenum-and-pancreas-accompanied-by-novel-men1-gene-mutation
#1
Min A Yang, Woong Ki Lee, Hong Shik Shin, Sung Hyun Park, Byung Sun Kim, Ji Woong Kim, Jin Woong Cho, So Hee Yun
Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma...
March 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28329685/critical-role-for-gab2-in-neuroblastoma-pathogenesis-through-the-promotion-of-shp2-mycn-cooperation
#2
Xiaoling Zhang, Zhiwei Dong, Cheng Zhang, Choong Yong Ung, Shuning He, Ting Tao, Andre M Oliveira, Alexander Meves, Baoan Ji, A Thomas Look, Hu Li, Benjamin G Neel, Shizhen Zhu
Growing evidence suggests a major role for Src-homology-2-domain-containing phosphatase 2 (SHP2/PTPN11) in MYCN-driven high-risk neuroblastoma, although biologic confirmation and a plausible mechanism for this contribution are lacking. Using a zebrafish model of MYCN-overexpressing neuroblastoma, we demonstrate that mutant ptpn11 expression in the adrenal gland analog of MYCN transgenic fish promotes the proliferation of hyperplastic neuroblasts, accelerates neuroblastomagenesis, and increases tumor penetrance...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28329633/comorbidities-of-hospitalized-pemphigus-patients-in-the-united-states
#3
Derek Y Hsu Y Hsu
We sought to determine the comorbid health conditions and inpatient mortality associated with pemphigus in a U.S. inpatient cohort. The 2002-2012 Nationwide Inpatient Sample, which contains a representative 20% stratified sample of all inpatient hospitalizations in the US, was analyzed. Comorbidities were determined through ICD-9-CM codes. Survey weighted multivariate logistic regression models controlling for demographic factors were constructed to determine the association of pemphigus with various comorbidities...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329436/prospective-evaluation-of-a-week-one-overnight-metyrapone-test-with-subsequent-dynamic-assessments-of-hypothalamic-pituitary-adrenal-axis-function-after-pituitary-surgery
#4
Katherine English, Warrick J Inder, Zara Weedon, Goce Dimeski, Jane Sorbello, Anthony W Russell, Emma L Duncan, Ross Cuneo
OBJECTIVE: To determine if an overnight metyrapone test (OMT) within the first week post pituitary surgery can definitively assess the hypothalamic-pituitary-adrenal (HPA) axis, compared with subsequent dynamic tests and glucocorticoid requirement at 6 months. DESIGN: Prospective study measuring morning cortisol levels on day 3 and 4 post-operatively, OMT day 5-7 and week 6, 250μg short Synacthen test (SST) week 6 and insulin tolerance test (ITT) week 7. PATIENTS AND MEASUREMENTS: Forty participants who underwent pituitary surgery at a single centre (Cushing's disease excluded) and were followed for at least 6 months...
March 22, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28328677/genitourinary-injuries-following-traffic-accidents-analysis-of-a-registry-of-162-690-victims
#5
Jean E Terrier, P Paparel, B Gadegbeku, Alain Ruffion, Lawrence C Jenkins, Amina N'Diaye
BACKGROUND: Traffic accidents are the most frequent cause of genitourinary injuries (GUI). Kidney injuries following trauma have been well described. However, there exists a paucity of data on other traumatic genitourinary injuries following traffic accidents. The objective of this study was to analyze the frequency and type of all genitourinary injuries, by user category, following traffic accidents. METHODS: Patient cases were extracted from the trauma registry of the French department of Rhone from 1996 to 2013...
March 21, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28328011/when-emotional-pain-becomes-physical-adverse-childhood-experiences-pain-and-the-role-of-mood-and-anxiety-disorders
#6
Natalie J Sachs-Ericsson, Julia L Sheffler, Ian H Stanley, Jennifer R Piazza, Kristopher J Preacher
OBJECTIVE: We examined the association between retrospective reports of adverse childhood experiences (ACEs) and painful medical conditions. We also examined the mediating and moderating roles of mood and anxiety disorders in the ACEs-painful medical conditions relationship. METHOD: Ten-year longitudinal data were obtained from the National Comorbidity Surveys (NCS-1, NCS-2; N = 5001). The NCS-1 obtained reports of ACEs, current health conditions, current pain severity, and mood and anxiety disorders...
March 22, 2017: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28327598/global-dna-methylation-analysis-identifies-two-discrete-clusters-of-pheochromocytoma-with-distinct-genomic-and-genetic-alterations
#7
Samuel Backman, Rajani Maharjan, Alberto Falk-Delgado, Joakim Crona, Kenko Cupisti, Peter Stålberg, Per Hellman, Peyman Björklund
Pheochromocytomas and paragangliomas (PPGLs) are rare and frequently heritable neural-crest derived tumours arising from the adrenal medulla or extra-adrenal chromaffin cells respectively. The majority of PPGL tumours are benign and do not recur with distant metastases. However, a sizeable fraction of these tumours secrete vasoactive catecholamines into the circulation causing a variety of symptoms including hypertension, palpitations and diaphoresis. The genetic landscape of PPGL has been well characterized and more than a dozen genes have been described as recurrently mutated...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28326964/adrenal-histologic-stress-related-changes-in-third-trimester-stillbirth
#8
Suzanne M Jacques, Faisal Qureshi
Adrenal histologic changes, including compact cell change (CCC), cystic change (CYC), and adrenal hemorrhage (AH), and their clinical correlations have only infrequently been investigated in stillbirth. We evaluated 75 third trimester singleton stillborns with complete autopsies (30 term and 45 preterm). A total of 58 had unexplained stillbirth and 17 had clinical placental abruption. The mothers were predominantly African-American (89%). CCC and CYC were diagnosed as cytoplasmic eosinophilia and cystic cavities in the definitive cortex, respectively...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326749/a-case-of-autoimmune-polyendocrine-syndrome-type-i-with-strong-positive-gad-antibody-titer-followed-up-with-glucose-tolerance-measured-by-oral-glucose-tolerance-test
#9
(no author information available yet)
A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Her condition remained stable under treatment with cortisone, fludrocortisone, levothyroxine, calcium lactate, precipitated calcium carbonate and alfacalcidol...
January 22, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28326739/a-case-of-pituitary-stalk-interruption-syndrome-with-intermittent-seizures-as-the-first-presentation
#10
(no author information available yet)
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99...
December 22, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28326217/a-rare-adrenal-mass-in-a-3-month-old-a-case-report-and-literature-review
#11
Ashish Garg, Elza Pollak-Christian, Navneetha Unnikrishnan
A three-month-old female infant presented with abdominal distention for 2 months. A large palpable mass in right upper quadrant was noted on physical exam. Abdominal ultrasound revealed a large heterogeneous mass with multiple cystic components. Mass was surgically excised and pathology was consistent with mature adrenal teratoma. Teratoma is a germ cell tumor mainly found in gonadal tissues. Occurrence of adrenal gland teratoma in children is very rare with less than 10 pediatric case reports in English literature...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28326187/a-novel-c-terminal-truncating-nr5a1-mutation-in-dizygotic-twins
#12
Atsushi Hattori, Hiroaki Zukeran, Maki Igarashi, Suzuka Toguchi, Yuji Toubaru, Takanobu Inoue, Yuko Katoh-Fukui, Maki Fukami
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28326101/spectrum-of-endocrine-disorders-in-central-ghana
#13
Osei Sarfo-Kantanka, Fred Stephen Sarfo, Eunice Oparebea Ansah, Ishmael Kyei
Background. Although an increasing burden of endocrine disorders is recorded worldwide, the greatest increase is occurring in developing countries. However, the spectrum of these disorders is not well described in most developing countries. Objective. The objective of this study was to profile the frequency of endocrine disorders and their basic demographic characteristics in an endocrine outpatient clinic in Kumasi, central Ghana. Methods. A retrospective review was conducted on endocrine disorders seen over a five-year period between January 2011 and December 2015 at the outpatient endocrine clinic of Komfo Anokye Teaching Hospital...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28325912/lysosomal-activity-maintains-glycolysis-and-cyclin-e1-expression-by-mediating-ad4bp-sf-1-stability-for-proper-steroidogenic-cell-growth
#14
Jhih-Siang Syu, Takashi Baba, Jyun-Yuan Huang, Hidesato Ogawa, Chi-Han Hsieh, Jin-Xian Hu, Ting-Yu Chen, Tzu-Chien Lin, Megumi Tsuchiya, Ken-Ichirou Morohashi, Bu-Miin Huang, Fu-L Lu, Chia-Yih Wang
The development and differentiation of steroidogenic organs are controlled by Ad4BP/SF-1 (adrenal 4 binding protein/steroidogenic factor 1). Besides, lysosomal activity is required for steroidogenesis and also enables adrenocortical cell to survive during stress. However, the role of lysosomal activity on steroidogenic cell growth is as yet unknown. Here, we showed that lysosomal activity maintained Ad4BP/SF-1 protein stability for proper steroidogenic cell growth. Treatment of cells with lysosomal inhibitors reduced steroidogenic cell growth in vitro...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325651/genitourinary-paraganglioma-demographic-pathologic-and-clinical-characteristics-in-the-surveillance-epidemiology-and-end-results-database-2000-2012
#15
Stephanie Purnell, Abhinav Sidana, Mahir Maruf, Campbell Grant, Piyush K Agarwal
BACKGROUND: Extra-adrenal paragangliomas (PGLs) are infrequent, benign, and neuroendocrine tumors arising from chromaffin cells of the autonomic nervous system. Most PGLs are sporadic, but up to 32% are associated with inherited syndromes such as neurofibromatosis type 1, von Hippel-Lindau disease, and familial PGL. Although most PGLs develop above the umbilicus, they have been reported in the genitourinary (GU) tract. Owing to the paucity of literature on the rates of GU PGL, the objective of our study is to describe the demographic, pathologic, and clinical characteristics of GU PGL, and compare them to non-GU sites of PGL using the surveillance, epidemiology, and end results (SEER) database...
March 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28324715/assessment-of-clinical-and-radiologic-differences-between-small-and-large-adrenal-pheochromocytomas
#16
Dong Won Kim, Seong Kuk Yoon, Sang Hyeon Kim, Eun Ju Kang, Hee Jin Kwon
OBJECTIVE: To evaluate differences in clinical and radiologic features of small and large pheochromocytomas. MATERIALS AND METHODS: This study included 39 patients with adrenal pheochromocytomas. Several clinical and radiologic features were statistically analyzed and compared between small and large pheochromocytomas. RESULTS: No significant differences were found in clinical features between them. Small pheochromocytomas had more relatively homogeneous attenuation although large pheochromocytomas had more cystic or necrotic changes...
March 10, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#17
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared to adults. Hereditary PPGLs can be separated into two groups: cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324042/interleukin-1-antagonism-decreases-cortisol-levels-in-obese-individuals
#18
Sandrine Andrea Urwyler, Philipp Schuetz, Fahim Ebrahimi, Marc Y Donath, Mirjam Christ-Crain
Context: Increased cortisol levels in obesity may contribute to the associated metabolic syndrome. In obesity, the activated innate immune system leads to increased interleukin (IL)-1β, which is known to stimulate the release of adrenocorticotropin hormone (ACTH). Objective: We hypothesised that in obesity IL-1 antagonism would result in downregulation of the hypothalamo-pituitary-adrenal (HPA) axis, leading to decreased cortisol levels. Design and participants: In this prospective intervention study we included 73 patients with obesity (BMI >30kg/m2) and at least one additional feature of the metabolic syndrome...
February 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324022/postnatal-ontogeny-of-the-circadian-expression-of-the-adrenal-clock-genes-and-corticosterone-rhythm-in-male-rats
#19
Silvia Liliana Ruiz Roa, Edson Zangiacomi Martinez, Clarissa Silva Martins, Sonir Rauber Antonini, Margaret de Castro, Ayrton Custódio Moreira
The postnatal synchronization of the circadian variation of the adrenal clock genes in mammals remains unknown. We evaluated the postnatal ontogeny of daily variation of clock genes (Clock/Bmal1/Per1/Per2/Per3/Cry1/Cry2/Rorα/Rev-Erbα) and steroidogenesis-related genes (Star and Mc2r) in rat adrenals and its relationship with the emergence of plasma corticosterone rhythm using Cosinor analysis. Plasma corticosterone circadian rhythm was detected from postnatal day (P) P1, with morning acrophase, between zeitgeber time (ZT) ZT0 and ZT2...
January 25, 2017: Endocrinology
https://www.readbyqxmd.com/read/28324017/a-novel-selective-bombesin-receptor-subtype-3-agonist-promotes-weight-loss-in-male-diet-induced-obese-rats-with-circadian-rhythm-change
#20
Yasunori Nio, Natsu Hotta, Minoru Maruyama, Kenichi Hamagami, Toshimi Nagi, Masaaki Funata, Junichi Sakamoto, Masanori Nakakariya, Nobuyuki Amano, Tomohiro Okawa, Yasuyoshi Arikawa, Shinobu Sasaki, Shoki Okuda, Shizuo Kasai, Yugo Habata, Yasutaka Nagisa
Bombesin receptor subtype 3 (BRS-3) is an orphan G-protein-coupled receptor. Based on the obese phenotype of male BRS-3-deficient mice, BRS-3 has been considered an attractive target for obesity treatment. Here, we developed a novel selective BRS-3 agonist (Compound-A) and evaluated its anti-obesity effects. Compound-A showed anorectic effects and enhanced energy expenditure in diet-induced obese (DIO)-F344 rats. Moreover, repeated oral administration of Compound-A for 7 days resulted in a significant body weight reduction in DIO-F344 rats...
March 16, 2017: Endocrinology
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