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Adrenal failure

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https://www.readbyqxmd.com/read/29446975/primary-adrenal-insufficiency-due-to-hereditary-apolipoprotein-ai-amyloidosis-endocrine-involvement-beyond-hypogonadism
#1
Adriana Pané, Sabina Ruiz, Aida Orois, Daniel Martínez, Mattia Squarcia, Lydia Sastre, Pablo Ruiz, Joan Caballería, Mireia Mora, Felicia A Hanzu, Irene Halperin
Several mutations in the gene encoding apolipoprotein AI (apoAI) have been described as a cause of familial amyloidosis. Individuals with apoAI-derived (AApoAI) amyloidosis frequently manifest with liver, kidney, laryngeal, skin and myocardial involvement. Although primary hypogonadism (PH) is considered almost pathognomonic of this disease, until now, primary adrenal insufficiency (PAI) has not been described as a common clinical feature. Here, we report the first kindred with AApoAI amyloidosis in which PAI is well-documented...
February 15, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/29419855/-clinical-report-of-testicular-hypoplasia-combined-with-21-hydroxylase-deficiency
#2
Bo Jiang, Dingyuan Ma, Huanhuan Chen, Xiaoyu Yang, Yugui Cui, Zhengfeng Xu, Jiayin Liu
OBJECTIVE To investigate the correlation of 21-hydroxylase deficiency (21-OHD) with male testicular dysplasia. METHODS Clinical data of 8 infertile males with congenital adrenal hyperplasia due to 21-OHD was retrospectively analyzed. In addition, potential mutations of the CYP21A2 gene was detected. RESULTS All patients were referred because of azoospermia or severe oligospermia and had small testis with averaged testicular volume of 6.1 mL. Three patients had testicular adrenal rest tumors. Endocrinologic examinations revealed low levels of leutinizing hormone and follicular stimulating hormone, normal or elevated testosterone, elevated progesterone, elevated or normal adrenocoticotropic hormone, and low or normal cortisol...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29411336/central-sleep-apnea-with-cheyne-stokes-breathing-in-heart-failure-from-research-to-clinical-practice-and-beyond
#3
K Terziyski, A Draganova
Characterized by periodic crescendo-decrescendo pattern of breathing alternating with central apneas, Central sleep apnea (CSA) with Cheyne-Stokes Breathing represents a highly prevalent, yet underdiagnosed comorbidity in chronic heart failure (CHF). A diverse body of evidence demonstrates increased morbidity and mortality in the presence of CSB. CSB has been described in both CHF patients with preserved and reduced ejection fraction, regardless of drug treatment. Risk factors for CSB are older age, male gender, high BMI, atrial fibrillation and hypocapnia...
February 7, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29401624/insulin-and-igf1-receptors-are-essential-for-the-development-and-steroidogenic-function-of-adult-leydig-cells
#4
Yasmine Neirijnck, Pierre Calvel, Karen R Kilcoyne, Françoise Kühne, Isabelle Stévant, Richard J Griffeth, Jean-Luc Pitetti, Silvana A Andric, Meng-Chun Hu, François Pralong, Lee B Smith, Serge Nef
The insulin family of growth factors (insulin, IGF1, and IGF2) are critical in sex determination, adrenal differentiation, and testicular function. Notably, the IGF system has been reported to mediate the proliferation of steroidogenic cells. However, the precise role and contribution of the membrane receptors mediating those effects, namely, insulin receptor (INSR) and type-I insulin-like growth factor receptor (IGF1R), have not, to our knowledge, been investigated. We show here that specific deletion of both Insr and Igf1r in steroidogenic cells in mice leads to severe alterations of adrenocortical and testicular development...
January 24, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29388434/annals-express-improved-technical-success-and-radiation-safety-of-adrenal-vein-sampling-using-rapid-semi-quantitative-point-of-care-cortisol-measurement
#5
Michael M Page, Mario Taranto, Duncan Ramsay, Greg van Schie, Paul Glendenning, Melissa Gillett, Samuel Vasikaran
OBJECTIVE: Primary aldosteronism is a curable cause of hypertension which can be treated surgically or medically depending on the findings of adrenal vein sampling (AVS) studies. AVS studies are technically demanding with a high failure rate in many centres. The use of intra-procedural cortisol measurement could improve the success rates of AVS but may be impracticable due to cost and effects on procedural duration. DESIGN: Retrospective review of the results of AVS procedures since commencement of point of care cortisol measurement using a novel single-use semi-quantitative measuring device for cortisol, the AVS Accuracy Kit (AAK)...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29344425/a-case-of-psychosis-in-a-patient-with-secondary-adrenal-insufficiency-a-possible-etiological-role-of-a-hypocortisolemic-induced-increase-in-proinflammatory-cytokines
#6
David R Spiegel, Aaron B Nelson, David C Lieb, Alexander M Pattison, Justin Smith, Patrice Zigrossi, Erin Godbout
Adrenal insufficiency is divided into three types based on the etiology of its development. In primary adrenal insufficiency, pathology resides in end-organ failure at the level of the adrenal cortex, while in secondary and tertiary adrenal insufficiency, impairment rests in the pituitary gland and hypothalamus, respectively. Regardless of etiology, adrenal insufficiency results in a hypocortisolemic condition. While the relationship between neuropsychiatric symptoms, especially psychosis, and hypercortisolemia has been extensively documented, the development of hypocortisolemia-induced psychosis is less common...
September 2017: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/29344029/primary-adrenal-lymphoma-presenting-with-adrenal-failure-a-case-report-and-review-of-the-literature
#7
Fariba Karimi
Introduction: Primary adrenal lymphoma is rare, with a few cases reported in the literature. Most often it manifests as bilateral adrenal lesions and adrenal insufficiency is a common complication. Case Presentation: A 53-year-old male was referred with abdominal discomfort and darkening of the skin since 1 month prior to admission. His workups detected large bilateral adrenal masses. The patient was admitted due to hypotension, and was diagnosed with adrenal insufficiency...
October 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29334914/-crying-without-tears-as-an-early-diagnostic-sign-post-of-triple-a-allgrove-syndrome-two-case-reports
#8
Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign...
January 15, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29310960/cannabinoid-hyperemesis-syndrome-pathophysiology-and-treatment-in-the-emergency-department
#9
John R Richards
BACKGROUND: Cannabinoid hyperemesis syndrome (CHS) is a challenging clinical disorder. CHS patients frequently present to the emergency department and may require treatment for intractable emesis, dehydration, and electrolyte abnormalities. Thought to be a variant of cyclic vomiting syndrome, CHS has become more prevalent with increasing cannabis potency and use, as enabled by various states having legalized the recreational use of cannabis. OBJECTIVE: This aim of this review is to investigate the pathophysiology of CHS and evaluate the published literature on pharmacologic treatment in the emergency department...
January 5, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29308764/-effect-mechanism-of-%C3%AE-adrenoceptor-on-sepsis-induced-acute-respiratory-distress-syndrome
#10
Xiangpeng Lyu, Zhukai Cong, Dan Li, Yifan Tao, Xi Zhu
Acute respiratory distress syndrome (ARDS), characterized by acute hypoxic respiratory dysfunction or failure, is a manifestation of multiple organ failure (MOF) in the lung, which often caused by various non-cardiac reasons, included severe trauma, infection, shock; and the most common risk factor is sepsis which would cause uncontrolled host response to infecting factors. As a strong stressor during sepsis, the severe infectious state of the body triggers serious stress reaction. The hypothalamus-pituitary-adrenal cortical (HPA) axis and sympathetic-adrenal medulla axis were activated and participated the initiation and progression of the stress response through the production of adrenocorticotropic hormone (ACTH), glucocorticoid (GC), epinephrine and norepinephrine (NE)...
January 2018: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/29290404/the-effects-of-recurrent-hypoglycaemia-and-opioid-antagonists-on-the-adrenal-catecholamine-synthetic-capacity-in-a-rat-model-of-haaf
#11
Manjula Senthilkumaran, Larisa Bobrovskaya
In this study, we investigated the effects of recurrent hypoglycaemia on the adrenal catecholamine synthetic enzymes in a rat model of hypoglycaemia-associated autonomic failure (HAAF). We found that plasma adrenaline was significantly reduced by about 50% in response to recurrent hypoglycaemia versus single hypoglycaemia. However, tyrosine hydroxylase (TH) protein and phosphorylation at Ser31 and Ser40 were increased in HAAF; similarly, aromatic aminoacid decarboxylase protein was also increased indicating a likely increase in catecholamine synthesis in the adrenal gland...
December 16, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29284338/catastrophic-antiphospholipid-syndrome-and-pregnancy-clinical-report
#12
J Khizroeva, V Bitsadze, A Makatsariya
We have observed the development of a catastrophic antiphospholipid syndrome (CAPS) in a pregnant woman hospitalized at 28 weeks of gestation with a severe preeclampsia. On the same day, an eclampsia attack developed, and an emergency surgical delivery was performed. On the third day, multiorgan failure developed. Examination showed a persistent circulation of lupus anticoagulant, high level of antibodies to cardiolipin, b2-glycoprotein I, and prothrombin. The usual diagnosis of the severe preeclampsia masked a catastrophic antiphospholipid syndrome, exacerbated by the coincident presence of several types of antiphospholipid antibodies...
December 28, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29275030/testosterone-and-cardiovascular-health
#13
REVIEW
Andrew Elagizi, Tobias S Köhler, Carl J Lavie
There is an ongoing debate in the medical community regarding the effects of testosterone on cardiovascular (CV) health. For decades, there has been conflicting evidence regarding the association of endogenous testosterone levels and CV disease (CVD) events that has resulted in much debate and confusion among health care providers and patients alike. Testosterone therapy has become increasingly widespread, and after the emergence of studies that reported increased CVD events in patients receiving testosterone therapy, the US Food and Drug Administration (FDA) released a warning statement about testosterone and its potential risk regarding CV health...
December 20, 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29235141/pseudomesotheliomatous-carcinoma-of-the-pleura-an-autopsy-case-of-metastasis-from-a-g-csf-producing-anaplastic-carcinoma-of-the-pancreas
#14
Yui Hattori, Kazuhiro Sentani, Takuya Hattori, Naohide Oue, Wataru Yasui
Pseudomesotheliomatous carcinoma is a malignant tumor that extends along the pleura mimicking malignant mesothelioma. An 81-year-old male patient presented to our hospital with epigastralgia, and abdominal computed tomography (CT) showed a 36-mm tumor in the pancreatic tail. The laboratory data revealed a high leukocyte count (>44 000/μL). Chest CT showed left pleural thickening with pleural effusion. The cancer showed a poor response to chemotherapy, and the patient died of respiratory failure at 5 months after the onset of disease...
December 13, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/29230117/outcomes-of-patients-with-late-relapse-metastatic-renal-cell-carcinoma-treated-with-targeted-therapies-a-single-institution-experience
#15
John Kucharczyk, Kamal Mandalapu, Suma Satti, Marc R Matrana
Background: Late relapse with presentation of metastatic disease >5 years after nephrectomy with curative intent is a known behavior of renal cell carcinoma (RCC), but data on outcomes, especially regarding targeted therapies, are limited. In this study, we analyze clinicopathologic features and response to targeted therapy in patients with late-relapse metastatic RCC (mRCC). Methods: We retrospectively reviewed clinical data on consecutive patients treated with targeted therapy for mRCC diagnosed >5 years after nephrectomy with curative intent...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#16
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
November 28, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29184809/review-of-prader-willi-syndrome-the-endocrine-approach
#17
REVIEW
Ryan Heksch, Manmohan Kamboj, Kathryn Anglin, Kathryn Obrynba
Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM)...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29181177/recurrent-maxillary-sinus-cancer-with-only-adrenal-metastasis
#18
Hye Jung Chang, Joon-Young Hur, Kyu Yeoun Won, Boksoon Chang, Ha Yeon Lee
Maxillary sinus cancer is rare, and often presents as a locally advanced disease. Recurrence commonly occurs locoregionally, while fewer patients present with distant metastasis; the most common sites involved are the lung and bone. This report discusses the case of a 64-year-old male who presented with a mass in the left submandibular area. Biopsy was performed and histological analysis identified a poorly differentiated squamous cell carcinoma. After staging work up, it was concluded the patient had a maxillary sinus squamous cell carcinoma at clinical stage IVA...
November 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29174432/primary-aldosteronism-making-sense-of-partial-data-sets-from-failed-adrenal-venous-sampling-suppression-of-adrenal-aldosterone-production-can-be-used-in-clinical-decision-making
#19
Veljko Strajina, Zahraa Al-Hilli, James C Andrews, Irina Bancos, Geoffrey B Thompson, David R Farley, Melanie L Lyden, Benzon M Dy, William F Young, Travis J McKenzie
BACKGROUND: It has been suggested that accurate clinical decisions may be made in patients with primary aldosteronism (PA) in the setting of failed cannulation of an adrenal vein, thereby utilizing only data from either right or left adrenal venous sampling (AVS) alone. METHODS: Retrospective analysis was performed for all patients with PA who underwent successful bilateral AVS. Adrenal vein/inferior vena cava index (AV/IVC index) was calculated by dividing aldosterone/cortisol ratio of the adrenal vein by aldosterone/cortisol ratio in the inferior vena cava, as described in a previously published study...
November 22, 2017: Surgery
https://www.readbyqxmd.com/read/29166798/grk2-as-a-therapeutic-target-for-heart-failure
#20
Alessandro Cannavo, Klara Komici, Leonardo Bencivenga, Maria Loreta D'amico, Giuseppina Gambino, Daniela Liccardo, Nicola Ferrara, Giuseppe Rengo
G protein-coupled receptor (GPCR) kinase-2 (GRK2) is a regulator of GPCRs, in particular β-adrenergic receptors (ARs), and as demonstrated by decades of investigation, it has a pivotal role in the development and progression of cardiovascular disease, like heart failure (HF). Indeed elevated levels and activity of this kinase are able to promote the dysfunction of both cardiac and adrenal α- and β-ARs and to dysregulate other protective signaling pathway, such as sphingosine 1-phospate and insulin. Moreover, recent discoveries suggest that GRK2 can signal independently from GPCRs, in a 'non-canonical' manner, via interaction with non-GPCR molecule or via its mitochondrial localization...
January 2018: Expert Opinion on Therapeutic Targets
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