Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (LCTs) are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs. This distinction is interesting because LCTs and TARTs require different therapeutic approaches. Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor

Acute myocardial infarction in a patient with hypofibrinogenemia: a case report

<p>Abstract</p> <p>Introduction</p> <p>Congenital fibrinogen deficiency is a rare coagulation disorder usually responsible for hemorrhagic diathesis. However, it can be associated with thrombosis and there have been limited reports of arterial thrombotic complications in these patients.</p> <p>Case presentation</p> <p>A 42-year-old Tunisian man with congenital hypofibrinogenemia and no cardiovascular risk factors presented with new onset prolonged angina pectoris. An electrocardiogram showed features of inferior acute myocardial infarction. His troponin levels had reached 17 ng/L. Laboratory findings confirmed hypofibrinogenemia and ruled out thrombophilia. Echocardiography was not useful in providing diagnostic elements but did show preserved left ventricular function. Coronary angiography was not performed and our patient did not receive any anticoagulant treatment due to the major risk of bleeding. Magnetic resonance imaging confirmed myocardial necrosis. Our patient was managed with aspirin, a beta-blocker, an angiotensin-converting enzyme inhibitor and statin medication. The treatment was well tolerated and no ischemic recurrence was detected.</p> <p>Conclusion</p> <p>Although coronary thrombosis is a rare event in patients with fibrinogen deficiency, this condition is of major interest in view of the difficulties observed in managing these patients.</p

Users’ perception toward Bitcoin Green with big data analytics

International audiencePurpose Nowadays, Bitcoin is facing many environmental problems arising from the proof of work based on blockchain. For this reason, Bitcoin Green (BITG) has been created and would solve these issues. The purpose of this paper is to visualize the users’ perception toward BITG through Twitter text analysis. Design/methodology/approach The big data used in this study includes two sources. The first data were extracted from the “Google Trends” engine during the period between 20 September 2015 and 15 September 2020. The second data were extracted from the Twitter application. This research explores the perceived ease of use, the perceived usefulness, the social influence, the perceived control and the user attitudes toward BITG. Therefore, lexicon-based sentiment analysis techniques combined with different dictionaries are built to visualize the drivers of investor attitudes toward the BITG using Twitter text messages. Besides, this study has checked the validity of two main assumptions using the normality (Jarque-Bera) and Kruskal-Wallis rank sum tests capable to conclude whether users mostly perceive BITG as a sustainable technology. Findings This empirical work affords insights into users’ intentions by exploring the drivers of BITG perception. The results show that users positively perceive the use of BITG as a sustainable blockchain. Besides, its usefulness is more appreciated from its ethical and technological characteristics, and its perceived application is mainly based on investment and coin offering use. Similarly, users are mostly showing positive emotions toward BITG. Research limitations/implications Tweets related to “BITG” are not as voluminous as the other cryptocurrencies like Bitcoin and Ethereum, which make it difficult to extract all the characteristics and use cases. Originality/value To the best of the authors’ knowledge, this work is the first one that uses the theory of planned behavior and the theory of acceptance model to explore cognitive factors in understanding investor intentions in adopting BITG

High body mass index is an independent predictor of differentiation syndrome in patients with acute promyelocytic leukemia

International audienceIncreased BMI has been correlated to an increased incidence of APL, but not to the occurrence of differentiation syndrome (DS) in APL. We consecutively treated 39 APL patients with ATRA and idarubicin ( according to PETHEMA regimen). Median age was 26 years. Forty-one percent patients were classified as intermediate risk, and 59% as high risk according to Sanz's score. Thirty-three patients (85%) reached CR. Eleven of the 36 patients evaluable for DS (30.5%) developed this syndrome (severe in 7 cases, moderate in 4, and fatal in 3 cases) within a median of 12 days (range 3-23) of ATRA onset. Six of the 9 (66.6%) patients with BMI >= 30 developed DS vs. 5 of 27 (18.5%) with BMI= 40 year (p = 0.033), baseline WBC >= 20 x 10(9)/l (p = 0.003), and creatinine > 1.4 mg/dl (p = 0.009). In multivariate analysis, BMI >= 30 remained an independent predictor of DS in addition to baseline WBC >= 20 x 10(9)/l. (C) 2009 Elsevier Ltd. All rights reserved

MRI features in 17 patients with l2 hydroxyglutaric aciduria

l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures Goffette et al. [1]. This leukencephalopathy was first described in 1980 Duran et al. [2]. Brain magnetic resonance imaging (MRI) demonstrates nonspecific subcortical white matter (WM) loss, cerebellar atrophy and changes in dentate nuclei and putamen Steenweg et al. [3]. The diagnosis is highlighted by increased levels of l-2-HG in body fluids such as urine and cerebrospinal fluid.The purpose of this study is to retrospectively describe the brain MRI features in l-2-HG aciduria. Keywords: l-2-Hydroxyglutaric aciduria, Leukoencephalopathy, MRI, Spectroscop