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https://www.readbyqxmd.com/read/28196654/imaging-of-unilateral-adrenal-hemorrhages-in-patients-after-blunt-abdominal-trauma-report-of-two-cases
#1
Asli Tanrivermis Sayit, Emrah Sayit, Hediye Pinar Gunbey, Kerim Aslan
Adrenal hemorrhage following blunt abdominal trauma is extremely rare. Most of the lesions are unilateral and right sided. Although often asymptomatic, life-threatening adrenal insufficiency may develop in the bilateral adrenal gland hemorrhage. Isolated adrenal injuries are very rare. They are often associated with other organ injuries. The mortality rates of patients range from 7% to 32%. In this report, we present the computed tomography and magnetic resonance imaging findings of unilateral adrenal hemorrhages in two patients with a history of fall from a height...
January 19, 2017: Chinese Journal of Traumatology, Zhonghua Chuang Shang za Zhi
https://www.readbyqxmd.com/read/28192125/clinical-implications-for-biochemical-diagnostic-thresholds-of-adrenal-sufficiency-using-a-highly-specific-cortisol-immunoassay
#2
G A Kline, J Buse, R D Krause
OBJECTIVES: Recent guidelines recommend a diagnosis of adrenal insufficiency when a stimulated peak cortisol level falls below 500nmol/L.This may not be valid using a highly specific cortisol immunoassay or liquid chromatography-mass spectroscopy (LCMS/MS).We sought to determine the diagnostic threshold for adrenal insufficiency using a new and widely available, highly specific cortisol immunoassay. DESIGN: All patients having a dynamic test of adrenal reserve had results measured using the historical cortisol assay (Roche Cortisol) and the newer assay (Roche Cortisol II)...
February 10, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28190868/self-management-in-adrenal-insufficiency-towards-a-better-understanding
#3
Daniela Kampmeyer, Christian Stefan Haas, Heiner Moenig, Birgit Harbeck
Patients with adrenal insufficiency (AI) require life-long glucocorticoid (GC) replacement treatment and dose adjustment in stress situations to prevent life-threatening adrenal crises. Herein this study we evaluated the patients' healthcare situation and their knowledge on AI, comparing various aspects to a prior survey in 209 physicians. Using a questionnaire, we conducted a comprehensive survey among 33 AI patients who were treated at the endocrine outpatient clinics of two University Hospitals in Germany...
February 10, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28181337/deficiency-of-the-sphingosine-1-phosphate-lyase-sgpl1-is-associated-with-congenital-nephrotic-syndrome-and-congenital-adrenal-calcifications
#4
Andreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris Krainer, Lukas A Huber, Michael W Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer-Shafir, Rivka Sukenik-Halevy, Tania Zehavi, Annick Raas-Rothschild, Cungui Mao, Thomas Müller
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1...
February 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28176190/relative-adrenal-insufficiency-in-patients-with-cirrhosis-a-systematic-review-and-meta-analysis
#5
Gaeun Kim, Ji Hye Huh, Kyong Joo Lee, Moon Young Kim, Kwang Yong Shim, Soon Koo Baik
BACKGROUND: Relative adrenal insufficiency (RAI) is frequently observed in patients with cirrhosis. We sought to identify evidence in the literature regarding the impact of RAI on clinical outcomes in cirrhotic patients. METHODS: We conducted a systematic review (SR) and meta-analysis (MA) using the Ovid-MEDLINE, EMBASE, and Cochrane Library databases to identify relevant studies in the literature. RESULTS: Of the 182 studies identified, 16 were eligible according to our inclusion criteria...
February 7, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28165343/sphingosine-1-phosphate-lyase-mutations-cause-primary-adrenal-insufficiency-and-steroid-resistant-nephrotic-syndrome
#6
Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, Ruth Krone, Bulent Hacihamdioglu, Erkan Sari, Ediz Yesilkaya, Helen L Storr, Maria Clemente, Monica Fernandez-Cancio, Nuria Camats, Nanik Ram, John C Achermann, Paul P Van Veldhoven, Leonardo Guasti, Debora Braslavsky, Tulay Guran, Louise A Metherell
Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irreversible cleavage of the lipid-signaling molecule sphingosine-1-phosphate (S1P). Mutations in other upstream components of the pathway lead to harmful accumulation of lysosomal sphingolipid species, which are associated with a series of conditions known as the sphingolipidoses...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphase-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#7
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28163940/asymptomatic-congenital-hyperinsulinism-due-to-a-glucokinase-activating-mutation-treated-as-adrenal-insufficiency-for-twelve-years
#8
Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28161392/-recommendations-for-the-diagnosis-and-treatment-of-classic-forms-of-21-hydroxylase-deficient-congenital-adrenal-hyperplasia
#9
Amparo Rodríguez, Begoña Ezquieta, José Igancio Labarta, María Clemente, Rafael Espino, Amaia Rodriguez, Aranzazu Escribano
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy...
February 1, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28148588/lesson-of-the-month-1-subacute-thyroiditis-a-rare-cause-of-fever-of-unknown-origin
#10
Fatima Amar Bahowairath, Nicholas Woodhouse, Samir Hussain, Mujahid Al Busaidi
Fever of unknown origin (FUO) is sometimes a diagnostic dilemma for clinicians. Endocrine causes reported in the literature include subacute thyroiditis, thyrotoxicosis, adrenal insufficiency and pheochromocytoma. Among these, subacute thyroiditis is often overlooked as it can occasionally lack typical symptoms. This case illustrates the fact that subacute thyroiditis should be considered as a possible cause of fever even if signs and symptoms of hyperthyroidism and thyroid tenderness are absent.
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28145127/cortisol-levels-in-children-with-diabetic-ketoacidosis-associated-with-new-onset-type-1-diabetes-mellitus
#11
Kristen M Williams, Pamela Fazzio, Sharon E Oberfield, Mary P Gallagher, Gaya S Aranoff
There is little data documenting cortisol levels in children with diabetic ketoacidosis (DKA), despite the fact that untreated adrenal insufficiency (AI) could worsen the outcome of DKA. In this cross-sectional study, we assessed serum cortisol levels in 28 children with DKA and new onset type 1 diabetes mellitus evaluated at our center over a 5-year period. Average duration of diabetes-related symptoms was positively associated with age ( P = .002), and significantly lower hemoglobin A1c levels were observed in the youngest children...
February 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28143809/non-hodgkin-s-lymphoma-involving-a-femur-bone-and-bilateral-adrenal-glands-alone-with-adrenal-insufficiency
#12
Yoshihito Iwahara, Tsutomu Shinohara, Keishi Naruse, Yukihisa Komatsu
Primary bone lymphoma and primary adrenal lymphoma are rare clinicopathological entities of non-Hodgkin's lymphoma (NHL). We present the first case of diffuse large B-cell lymphoma with the involvement of a single bone and both adrenal glands alone with adrenal insufficiency. As primary extranodal NHL may have other unusual extranodal lesions, which may present unexplained clinical findings, patients with primary extranodal NHL require careful systemic examination, even when lymphadenopathy is absent.
January 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28132947/an-addison-disease-revealed-with-a-serious-hyponatremia
#13
Hadrien Maguet, Agnès Carreau, Serge Hautefeuille, Pierre Bonnin, Gaspard Beaune
We present the case of an Addison's disease revealed by a serious hyponatremia. The serum concentration of ACTH and 21-hydroxylase antibodies were increased and lead to the diagnosis. The cortisol blood level was lowered but required to take into account the stress induced by the hospitalisation of the patient. Addison's disease is characterized by the destruction of the adrenal cortex. Autoimmune adrenalitis is the main cause of adrenal insufficiency. Treatment involves normalisation of sodium concentration and corticosteroids replacement...
February 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28130352/clinical-features-and-practice-patterns-of-treatment-for-adrenal-crisis-a-nationwide-cross-sectional-study-in-japan
#14
Yosuke Ono, Sachiko Ono, Hideo Yasunaga, Hiroki Matsui, Kiyohide Fushimi, Yuji Tanaka
CONTEXT: Adrenal crisis is an endocrine emergency that requires prompt diagnosis and treatment. However, the clinical features and practice patterns of treatment for adrenal crisis are not completely understood. OBJECTIVE: To investigate patient characteristics, comorbidities and treatments of adrenal crisis. METHODS: We conducted a cross-sectional study of patients who received intravenous glucocorticoids for adrenal crisis at admission from 1 July 2007 to 31 March 2014, using a national inpatient database in Japan...
March 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28124663/validation-of-the-1-%C3%AE-g-short-synacthen-test-an-assessment-of-morning-cortisol-cut-off-values-and-other-predictors
#15
F T Perton, G S Mijnhout, B J Kollen, J M M Rondeel, A A M Franken, P H P Groeneveld
BACKGROUND: Clinical practice shows that many low-dose short synacthen tests (LD-SSTs) for diagnosing adrenal insufficiency in an outpatient setting have a normal outcome and could be considered superfluous. The objective of this study is to provide a guideline to safely reduce the number of unnecessarily performed LD-SSTs. METHODS: Data of LD-SSTs performed in outpatients were collected. Optimal morning cortisol cut-off values were determined using ROC analysis...
January 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28119833/large-dose-glucocorticoid-induced-secondary-adrenal-insufficiency-in-spinal-cord-injury
#16
Soo Ho Park, Kang Hee Cho
OBJECTIVE: To investigate the incidence of adrenal insufficiency (AI) in patients with spinal cord injury (SCI) with symptoms similar to those of AI and to assess the relevance of AI and large-dose glucocorticoids in SCI. METHODS: The medical records of 228 patients who were admitted to the rehabilitation center after SCI from January 2014 to January 2016 were reviewed retrospectively. Twenty-nine of 228 patients had persistent symptoms suspicious for AI despite continuous care for more than 4 weeks...
December 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28114222/18f-fdg-pet-ct-imaging-in-adrenal-cryptococcosis
#17
Tarun Kumar Jain, Sellam Karunanithi, Chandrasekhar Bal, Rakesh Kumar
Cryptococcosis is a fungal infection, relatively rare in the absence of impaired immunity. Lung or brain may be involved. Cryptococcal dissemination is rare in absence of impaired immunity, and documentation of alone adrenal involvement without central nervous system involvement is rare. Here, we present a case of an immunocompetent patient presented with bilateral adrenal cryptococcosis with adrenal insufficiency, without central nervous system involvement and F-FDG PET/CT correctly identified the residual disease...
January 20, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28101019/a-case-of-therapy-resistant-folliculitis-due-to-adrenal-insufficiency
#18
Kirsten Rønholt Stausholm, Eva Spaun, Uffe Koppelhus
A report on a 40-year-old patient with recalcitrant, suppurative folliculitis is presented. After years of unsuccessful treatment with conventional therapies, the patient was diagnosed with adrenal insufficiency with a low level of circulating cortisol. A few weeks after the patient was subjected to substitution therapy with hydrocortisone, his folliculitis resolved. We discuss the role of plasma cortisol level in the pathogenesis of folliculitis.
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28098040/-hypocortisolism-associated-with-nephrotic-syndrome
#19
R H Westerdijk, B H R Wolffenbuttel, I P Kema, R S M E Wouters
BACKGROUND: With nephrotic syndrome, cortisol levels may be falsely lowered by loss of cortisol-binding globulin (CBG) in the urine. An incorrect diagnosis of adrenal insufficiency could therefore be made. CASE DESCRIPTION: We describe the case of a 52-year-old female with nephrotic syndrome that did not sufficiently respond to medication. Treatment management was complicated by symptomatic hypotension, which was thought to be caused by adrenal insufficiency. The cortisol levels in the blood were low and a clinical cause could not be identified...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28073054/adrenal-failure-due-to-bilateral-adrenal-metastasis-of-rectal-cancer-a-case-report
#20
Yuki Imaoka, Fumito Kuranishi, Yoshiteru Ogawa, Hiroshi Okuda, Masahiro Nakahara
INTRODUCTION: It is rare for a patient to present with adrenal insufficiency secondary to bilateral adrenal metastases from a malignant colorectal tumor. CASE PRESENTATION: An 82-year-old Japanese man presented to our hospital with high fever and malaise. He was receiving oral chemotherapy for the treatment of rectal cancer with multiple metastases. Computed tomography showed new bilateral adrenal gland metastases. A rapid adrenocorticotropic hormone (ACTH) test showed adrenal insufficiency...
December 21, 2016: International Journal of Surgery Case Reports
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