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Adrenal failure

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https://www.readbyqxmd.com/read/29929552/anterior-hypopituitarism-in-a-patient-with-amyloidosis-secondary-to-crohn-s-disease-a-case-report
#1
Natacha Verbeke, Nathalie Pirson, Arnaud Devresse, Raluca Furnica, Thierry Duprez, Dominique Maiter
BACKGROUND: Amyloid infiltration of endocrine glands has been reported, mostly in the thyroid, pancreas, adrenals, and testes, but affected patients do not frequently exhibit overt endocrine insufficiency. Here we report the case of a patient with complete anterior hypopituitarism probably due to a known systemic amyloidosis. CASE PRESENTATION: Our male Caucasian patient was diagnosed with Crohn's disease at the age of 22 years. At the age of 37, he developed secondary renal amyloidosis, which resulted in end-stage renal failure...
June 22, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29904615/acute-pericarditis-as-a-presentation-of-adrenal-insufficiency
#2
Sukesh Manthri, Sindhura Bandaru, Abdisamad Ibrahim, Chaitanya K Mamillapalli
Acute pericarditis as a presenting sign of adrenal insufficiency is rarely reported. We present a rare case that highlights pericarditis as a clinical presentation of secondary adrenal insufficiency later complicated by cardiac tamponade. A 44-year-old lady who presented to the hospital with a one-day history of pleuritic chest pain and shortness of breath. In the emergency room, she had a blood pressure of 70/35 mmHg. Laboratory evaluation revealed white blood cell count of 16.08 k/cumm with neutrophilia, normal renal function and elevated troponin (0...
April 13, 2018: Curēus
https://www.readbyqxmd.com/read/29902559/role-of-daily-plan-adaptation-in-mr-guided-stereotactic-ablative-radiotherapy-for-adrenal-metastases
#3
M A Palacios, O Bohoudi, A M E Bruynzeel, J R van Sörnsen-de Koste, P Cobussen, B J Slotman, F J Lagerwaard, S Senan
PURPOSE: To study inter-fractional organ changes during MR-guided stereotactic ablative radiotherapy (SABR) for adrenal metastases and to evaluate the dosimetric advantages of online plan adaptation. METHODS AND MATERIALS: Seventeen patients underwent a total of 84 fractions of video-assisted, respiration-gated MR-guided adaptive radiotherapy to deliver either 50 Gy (5 fractions), 60 Gy (8 fractions) or 24 Gy (3 fractions). An MR scan was repeated prior to each fraction, followed by rigid co-registration to the GTV on the pre-treatment MR scan...
June 11, 2018: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29891883/broad-phenotypes-in-heterozygous-nr5a1-46-xy-patients-with-a-disorder-of-sex-development-an-oligogenic-origin
#4
Núria Camats, Mónica Fernández-Cancio, Laura Audí, André Schaller, Christa E Flück
SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only. Most NR5A1 variants show in vitro pathogenic effects, but not when tested in heterozygote state together with wild-type NR5A1 as usually seen in patients. Thus, the genotype-phenotype correlation for NR5A1 variants remains an unsolved question. We analyzed heterozygous 46,XY SF-1/NR5A1 patients by whole exome sequencing and used an algorithm for data analysis based on selected project-specific DSD- and SF-1-related genes...
June 11, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29889818/effects-of-psychosocial-stress-on-subsequent-hemorrhagic-shock-and-resuscitation-in-male-mice
#5
Dominik Langgartner, Ulrich Wachter, Clair Hartmann, Michael Gröger, Josef Vogt, Tamara Merz, Oscar McCook, Marina Fink, Sandra Kress, Michael Georgieff, Julia F Kunze, Peter L Radermacher, Stefan O Reber, Martin Wepler
BACKGROUND: Hypoxemia and tissue ischemia during hemorrhage as well as formation of oxygen and nitrogen radicals during resuscitation promote hyperinflammation and, consequently, trigger severe multiple-organ-failure (MOF). Individuals diagnosed with stress-related disorders or reporting a life history of psychosocial stress are characterized by chronic low-grade inflammation and a reduced glucocorticoid (GC) signaling. We hypothesized that exposure to chronic psychosocial stress during adulthood prior to hemorrhagic shock increases oxidative/nitrosative stress and therefore the risk of developing MOF in mice...
June 8, 2018: Shock
https://www.readbyqxmd.com/read/29887344/relative-adrenal-insufficiency-in-cirrhotic-patients-with-ascites-hepatoadrenal-syndrome
#6
Rajiv Ranjan Singh, Rama Walia, Naresh Sachdeva, Ashish Bhalla, Akash Singh, Virendra Singh
AIM: Relative adrenal insufficiency (RAI) has been reported in critically ill patients with cirrhosis. We evaluated the prevalence of RAI and its relationship to clinical course in non-septic cirrhosis patients with ascites. METHODS: The study included 66 consecutive non-septic cirrhosis patients with ascites. RAI was defined by a delta cortisol lower than 9 μg/dL and/or a peak cortisol lower than 18 μg/dL. RESULTS: Sixty-six patients with cirrhosis and ascites were studied...
May 23, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29884668/systolic-heart-failure-in-a-patient-with-primary-aldosteronism
#7
Chikezie Alvarez, Vinuta Mohan
A 53-year-old African man with a 25-year history of uncontrolled hypertension and systolic heart failure presented with an acute congestive heart failure exacerbation. He was found to have severe hypokalaemia, so additional testing was performed, and primary aldosteronism was confirmed. CT scan showed a 1.2×2.4 cm well-defined, homogeneous adenoma of the left adrenal gland. Adrenal vein sampling confirmed unilateral primary aldosteronism with lateralisation to the left adrenal gland. The patient was started on spironolactone and was referred to surgery for laparoscopic left adrenalectomy...
June 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29858905/a-novel-mutation-in-the-proopiomelanocortin-pomc-gene-of-a-hispanic-child-metformin-treatment-shows-a-beneficial-impact-on-the-body-mass-index
#8
Mark A Hilado, Ruvdeep S Randhawa
BACKGROUND: Proopiomelanocortin (POMC) is a complex polypeptide that produces a variety of biologically active substances via cleavage in a tissue-specific manner [Challis BG, Millington GW. Proopiomelanocortin deficiency. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2018], yielding several products including adrenocorticotrophic (ACTH) and melanocyte stimulating hormones (MSH). These peptides have roles in the regulation of food intake, energy homeostasis, adrenal steroidogenesis, melanocyte stimulation and immune modulation...
June 2, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29858690/dexamethasone-related-adrenal-insufficiency-in-patients-with-brain-and-skull-base-tumours
#9
H Benghiat, P Sanghera, D Stange, P Nightingale, A Hartley, M W O'Reilly, N Nundall, H Currie, M Ali, G Cruickshank, D Spooner, A Toogood
PURPOSE: This study aimed to evaluate the prevalence of glucocorticoid-induced adrenal insufficiency in a cohort of patients with brain and skull base tumours and to identify factors which may predict its occurrence. METHODS: Patients with brain or skull base tumours attending for a short synacthen test (SST) (adrenocorticotropin hormone (ACTH) stimulation test) at a single institution over a 3-year period were retrospectively identified. Baseline demographics and dexamethasone exposure were examined...
June 1, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29850786/nur77-protects-against-adverse-cardiac-remodelling-by-limiting-neuropeptide-y-signalling-in-the-sympathoadrenal-cardiac-axis
#10
Lejla Medzikovic, Cindy van Roomen, Antonius Baartscheer, Pieter B van Loenen, Judith de Vos, Erik N T P Bakker, Duco S Koenis, Amin Damanafshan, Esther E Creemers, E Karin Arkenbout, Carlie J M de Vries, Vivian de Waard
Aims: Cardiac remodelling and heart failure are promoted by persistent sympathetic activity. We recently reported that nuclear receptor Nur77 may protect against sympathetic agonist-induced cardiac remodelling in mice. The sympathetic co-transmitter Neuropeptide Y (NPY) is co-released with catecholamines and is a known cardiac modulator and predictor of heart failure mortality. Recently, transcriptome analyses revealed NPY as a putative target of Nur77. In this study, we assess whether Nur77 modulates adverse cardiac remodelling via NPY signalling...
May 30, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29849176/common-genetic-variation-in-the-autoimmune-regulator-aire-locus-is-associated-with-autoimmune-addison-s-disease-in-sweden
#11
Daniel Eriksson, Matteo Bianchi, Nils Landegren, Frida Dalin, Jakob Skov, Lina Hultin-Rosenberg, Argyri Mathioudaki, Jessika Nordin, Åsa Hallgren, Göran Andersson, Karolina Tandre, Solbritt Rantapää Dahlqvist, Peter Söderkvist, Lars Rönnblom, Anna-Lena Hulting, Jeanette Wahlberg, Per Dahlqvist, Olov Ekwall, Jennifer R S Meadows, Kerstin Lindblad-Toh, Sophie Bensing, Gerli Rosengren Pielberg, Olle Kämpe
Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation...
May 30, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29845554/a-case-of-an-elderly-female-with-diffuse-hepatic-hemangiomatosis-complicated-with-multiple-organic-dysfunction-and-kasabach-merritt-syndrome
#12
Yoshiaki Shimizu, Takuya Komura, Takuya Seike, Hitoshi Omura, Tatsuo Kumai, Takashi Kagaya, Hajime Ohta, Atsuhiro Kawashima, Kenichi Harada, Shuichi Kaneko, Masashi Unoura
Since diffuse hepatic hemangiomatosis (DHH) is an extremely rare disease especially in adults, the etiology and natural course of adult-onset DHH has not been well understood. We report a case of DHH complicated with multiple organic dysfunction and Kasabach-Merritt syndrome (KMS) in an 83-year-old female. She presented with mild abdominal distension and laboratory findings revealed thrombocytopenia and abnormal coagulation, indicating disseminated intravascular coagulation (DIC). Enhanced computed tomography revealed diffuse, hypodense hepatic nodules with delayed enhancement involving the whole liver, and multiple hypodense splenic legions...
May 29, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29766680/c-arm-computed-tomography-assisted-adrenal-venous-sampling-improved-right-adrenal-vein-cannulation-and-sampling-quality-in-primary-aldosteronism
#13
Chung Hyun Park, Namki Hong, Kichang Han, Sang Wook Kang, Cho Rok Lee, Sungha Park, Yumie Rhee
BACKGROUND: Adrenal venous sampling (AVS) is a gold standard for subtype classification of primary aldosteronism (PA). However, this procedure has a high failure rate because of the anatomical difficulties in accessing the right adrenal vein. We investigated whether C-arm computed tomography-assisted AVS (C-AVS) could improve the success rate of adrenal sampling. METHODS: A total of 156 patients, diagnosed with PA who underwent AVS from May 2004 through April 2017, were included...
May 4, 2018: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29754631/diagnosis-of-cushing-s-syndrome-in-the-modern-era
#14
REVIEW
Lynnette Kaye Nieman
Four challenges complicate the evaluation for Cushing syndrome. These challenges include increasing global prevalence of obesity and diabetes; increasing use of exogenous glucocorticoids, which cause a Cushing syndrome phenotype; the confusion caused by nonpathologic hypercortisolism not associated with Cushing syndrome, which may present with symptoms consistent with Cushing syndrome; and difficulty identifying pathologic hypercortisolism when it is extremely mild or cyclic or in renal failure, incidental adrenal masses, and pregnancy...
June 2018: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29742084/first-line-use-of-novel-hormonal-agents-in-prostate-cancer-a-critical-appraisal
#15
Derek Raghavan
Castration has been the hallmark of the treatment of advanced prostate cancer for nearly a century. Conventional surgical or medical castration for the management of metastatic prostate cancer has been associated with an initial response rate greater than 60% to 70%, depending on the criteria employed. The median duration of the initial response is usually less than 3 to 5 years, however, depending on the extent of disease. The failure of disease to respond to castration has been associated with an increase in the production of adrenal androgens and/or the evolution of upregulated or mutated androgen receptors...
April 2018: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/29730659/myxedema-coma-due-to-hashimoto-thyroiditis-a-rare-but-real-presentation-of-failure-to-thrive-in-infancy
#16
Ryan A Heksch, Rohan K Henry
BACKGROUND: Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group. METHODS/RESULTS: A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). She developed hypotension, bradycardia, hypothermia, and apnea requiring intubation. Initial thyroid-stimulating hormone was 422 μIU/mL, and free thyroxine was < 0...
May 4, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29716804/root-cause-analysis-of-diagnostic-and-surgical-failures-in-the-treatment-of-suspected-cushing-s-disease
#17
Hasan A Zaidi, David L Penn, David J Cote, Edward R Laws
Cushing's disease (CD) is a condition characterized by excess glucocorticoid from an ACTH pituitary adenoma. Identifying surgical candidates represents a major diagnostic challenge. We performed a root cause analysis (RCA) of treatment failures for patients with suspected CD. The present study aims to categorize failures in treatment. Medical records were reviewed from 2008 to 2017 for all patients treated surgically for suspected CD. Demographics, past medical history, endocrine outcomes, imaging findings, laboratory studies and clinical features were collected...
July 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29707605/scaling-up-to-study-brca2-the-zeppelin-zebrafish-mutant-reveals-a-role-for-brca2-in-embryonic-development-of-kidney-mesoderm
#18
Bridgette E Drummond, Rebecca A Wingert
Specialized renal epithelial cells known as podocytes are essential components of the filtering structures within the kidney that coordinate the process of removing waste from the bloodstream. Podocyte loss initiates many human kidney diseases as it triggers subsequent damage to the kidney, leading to progressive loss of function that culminates with end stage renal failure. Podocyte morphology, function and gene expression profiles are well conserved between zebrafish and humans, making the former a relevant model to study podocyte development and model kidney diseases...
2018: Cancer Cell & Microenvironment
https://www.readbyqxmd.com/read/29705274/early-onset-lysosomal-acid-lipase-deficiency-presenting-as-secondary-hemophagocytic-lymphohistiocytosis-two-infants-treated-with-sebelipase-alfa
#19
Ermelinda Santos Silva, Maja Klaudel-Dreszler, Agnieska Bakuła, Teresa Oliva, Tereza Sousa, Paula Cristina Fernandes, Anna Tylki-Szymańska, Elena Kamenets, Esmeralda Martins, Piotr Socha
Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible...
April 25, 2018: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/29702543/a-novel-mutation-c-153-c-a-in-a-tunisian-girl-with-wolman-disease-and-unusual-presentation-hemophagocytic-lymphohistiocytosis
#20
Faten Tinsa, Manel Ben Romdhane, Hela Boudabous, Imen Bel Hadj, Ines Brini, Neji Tebib, Hela Louati, Soumeya Bekri, Khadija Boussetta
Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation...
April 26, 2018: Journal of Pediatric Hematology/oncology
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