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https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#1
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
#2
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
#3
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
#4
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
#5
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...
November 23, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29162628/etiopathogenesis-and-pharmacological-prevention-of-a-type-2-diabetes-model-in-male-mice
#6
Alberto Loizzo, Santi M Spampinato, Gabriele Campana, Stefano Loizzo
We describe a stress-derived type-2 diabetes model in male mice, and formulate new hypotheses on how the model was induced, how diabetes-like alterations were prevented through specific pharmacological treatments, and how its possible neuroendocrine pathogenesis could be hypothesized. Pregnant females arrived in our laboratory on their 14th day of conceptional age. After birth, control mice never showed any apparent behavioral-metabolic-endocrine alterations. However, application of postnatal stress (brief mother deprivation, plus sham injection, daily from birth to weaning), was followed in adult male mice by two series of diabetes-like alterations...
November 21, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29157626/risk-association-of-congenital-anomalies-in-patients-with-ambiguous-genitalia-a-22-year-single-center-experience
#7
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich, Ina E Amarillo
BACKGROUND: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. OBJECTIVE: This chart review was performed to identify patients with ambiguous genitalia, and to classify them as having 46,XX DSD, 46,XY DSD, or sex chromosome DSD...
November 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29157485/la-chirurgie-d%C3%A2-%C3%A3-pargne-surr%C3%A3-nalienne-du-cortex-%C3%A3-la-m%C3%A3-dulla-cortical-sparing-surgery-from-cortex-to-medulla
#8
A Ferriere, V Kerlan, A Tabarin
The 2017 Endocrine Society annual meeting included several communications and debates on the conservative adrenal surgery in bilateral hereditary pheochromocytomas (BHP), bilateral adrenal macronodular hyperplasia (BAMH) and primary hyperaldosteronism (PHA). The general principle is to preserve a part of the adrenal cortex to prevent the occurrence of a definitive adrenal insufficiency. In BHP, cortical sparing surgery allows more than 50% of patients to maintain normal corticotropic function at 10 years with a low recurrence rate (~ 10%)...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29156052/primary-adrenal-insufficiency-managing-mineralocorticoid-replacement-therapy
#9
Daniela Esposito, Daniela Pasquali, Gudmundur Johannsson
Context: Mineralocorticoid (MC) replacement therapy in patients with primary adrenal insufficiency (PAI) was introduced more than 60 years ago. Still, there are limited data on how MC substitution should be optimized, since MC dosing regimens have only been systematically investigated in a few studies. We review the management of current standard MC replacement therapy in PAI and its plausible impact on outcome. Evidence Acquisition: Using PubMed, we conducted a systematic review of the literature from 1939 to 2017, with the following keywords: 'adrenal insufficiency', 'mineralocorticoid deficiency', 'aldosterone', 'cardiovascular disease', 'hypertension', and 'heart failure'...
November 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29153200/adrenomedullin-as-a-biomarker-of-heart-failure
#10
REVIEW
Toshio Nishikimi, Yasuaki Nakagawa
Adrenomedullin (AM) is a vasodilatory peptide originally discovered in human pheochromocytoma tissue. Although AM is highly expressed in the adrenal glands, heart, lungs, and kidneys, vascular endothelium and smooth muscle are thought to be the main source of plasma AM. The AM precursor is processed to AM-glycine, which is then converted to AM-mature through C-terminal amidation. In this process, mid-regional pro-adrenomedullin (MR-proAM) is also produced. Plasma AM, AM-mature, AM-glycine, and MR-proAM levels are all higher in patients with heart failure than healthy subjects in proportional to the disease severity...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#11
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29147570/management-of-an-acute-catecholamine-induced-cardiomyopathy-and-circulatory-collapse-a-multidisciplinary-approach
#12
R T Casey, B G Challis, D Pitfield, R M Mahroof, N Jamieson, C J Bhagra, A Vuylsteke, S J Pettit, K C Chatterjee
A phaeochromocytoma (PC) is a rare, catecholamine-secreting neuroendocrine tumour arising from the adrenal medulla. Presenting symptoms of this rare tumour are highly variable but life-threatening multiorgan dysfunction can occur secondary to catecholamine-induced hypertension or hypotension and subsequent cardiovascular collapse. High levels of circulating catecholamines can induce an acute stress cardiomyopathy, also known as Takotsubo cardiomyopathy. Recent studies have focused on early diagnosis and estimation of the prevalence of acute stress cardiomyopathy in patients with PC, but very little is reported about management of these complex cases...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#13
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29141926/ectopic-acth-syndrome-complicated-by-multiple-opportunistic-infections-treated-with-percutaneous-ablation-of-the-adrenal-glands
#14
Chrystal Chan, James Mark Roberts
Ectopic adrenocorticotropic hormone (ACTH)-related Cushing's syndrome can lead to multiple complications including severe immunosuppression. If the ACTH-secreting tumour cannot be found, definitive treatment is surgical adrenalectomy, typically followed by glucocorticoid replacement. Here, we present a case of fulminant respiratory failure secondary to coinfection with Pneumocystis jirovecii and cytomegalovirus in a patient with ectopic ACTH-dependent Cushing's syndrome with occult primary. Due to significant deconditioning, she was unable to undergo definitive adrenalectomy and instead underwent percutaneous microwave ablation of the adrenal glands...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29129575/cardiovascular-events-and-target-organ-damage-in-primary-aldosteronism-compared-with-essential-hypertension-a-systematic-review-and-meta-analysis
#15
Silvia Monticone, Fabrizio D'Ascenzo, Claudio Moretti, Tracy Ann Williams, Franco Veglio, Fiorenzo Gaita, Paolo Mulatero
BACKGROUND: There is conflicting evidence, relying on heterogeneous studies, as to whether aldosterone excess is responsible for an increased risk of cardiovascular and cerebrovascular complications in patients with primary aldosteronism. We aimed to assess the association between primary aldosteronism and adverse cardiac and cerebrovascular events, target organ damage, diabetes, and metabolic syndrome, compared with the association of essential hypertension and these cardiovascular and end organ events, by integrating results of previous studies...
November 9, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29122900/a-30-year-delayed-presentation-of-disseminated-histoplasmosis-in-a-heart-transplant-recipient-diagnostic-challenges-in-a-non-endemic-area
#16
Aneela Majeed, Vikas Kapoor, Azka Latif, Tirdad Zangeneh
A 70-year-old man with history of heart transplant performed in 1986, presented with altered mental status. CT scan of brain showed ring-enhancing lesions, raising suspicion for metastatic malignancy. Work-up revealed bilateral adrenal masses, biopsy showed granulomatous changes consistent with histoplasmosis. The possibility of histoplasmosis was less likely as the patient had no prior history of symptomatic disease and had lived in the endemic area 30 years prior to presentation. Brain biopsy confirmed central nervous system involvement...
November 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29121733/pheochromocytoma-as-a-reversible-cause-of-cardiomyopathy-analysis-and-review-of-the-literature
#17
Rong Zhang, Deepashree Gupta, Stewart G Albert
CONTEXT: Pheochromocytoma and paraganglioma are rare neuroendocrine tumors which overproduce catecholamines and arise from the adrenal gland or extra-adrenal chromaffin cells of the sympathetic and parasympathetic ganglia (1). Excessive catecholamine-induced stimulation of cardiac myocytes leads to damage which manifests in several forms ranging from Takotsubo to dilated cardiomyopathy. Diagnosis of pheochromocytoma-related cardiomyopathies is often delayed due to the atypical presentation associated with many cases...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29113155/poems-syndrome-presentation-with-progressive-weakness-in-upper-and-lower-limbs-a-case-report
#18
Chuang-Jie Cao, Cheng-Yun Dou, Ke-Hua Zhou, Jin-Bo Liu, Hong Lai
Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS) syndrome is a rare variant of plasma cell disorders with multiple systemic manifestations. A 50-year-old female patient presented with progressive weakness in her upper and lower limbs; tingling, numbness and burning in her feet; polyneuropathy (demyelinating in the majority of cases of POEMS syndrome); monoclonal plasma cell disorder (typicallyλ-restricted in cases of POEMS syndrome); sclerotic lesions on the spine and pelvis; organomegaly, including hepatomegaly, splenomegaly and lymphadenopathy; edema; pleural effusion; adrenal, thyroidal, pituitary, gonadal and pancreatic endocrinopathy; skin changes, including hyperpigmentation, dry skin and hypertrichosis; thrombocytosis; pulmonary hypertension; low vitamin B12 and weight loss...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29093678/immune-related-adverse-events-associated-with-anti-pd-1-pd-l1-treatment-for-malignancies-a-meta-analysis
#19
Peng-Fei Wang, Yang Chen, Si-Ying Song, Ting-Jian Wang, Wen-Jun Ji, Shou-Wei Li, Ning Liu, Chang-Xiang Yan
Background: Treatment of cancers with programmed cell death protein 1 (PD-1) pathway inhibitors can lead to immune-related adverse events (irAEs), which could be serious and even fetal. Therefore, clinicians should be aware of the characteristics of irAEs associated with the use of such drugs. Methods: The MEDLINE, EMBASE, and Cochrane databases were searched to find potential studies using the following strategies: anti-PD-1/PD-L1 treatment; irAEs; and cancer. R© package Meta was used to pool incidence. Results: Forty-six studies representing 12,808 oncologic patients treated with anti-PD-1/PD-L1 agents were included in the meta-analysis...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29089708/recurrent-hepatocellular-carcinoma-in-the-right-adrenal-gland-11%C3%A2-years-after-liver-transplantation-for-hepatocellular-carcinoma-a-case-report-and-literature-review
#20
REVIEW
Ismail Cem Sormaz, Gülçin Yegen, Filiz Akyuz, Fatih Tunca, Yasemin Giles Şenyürek
Hepatocellular carcinoma (HCC) is the most common primary malignancy of the liver, and extrahepatic metastases are typically found during disease progression. The incidence of adrenal metastasis (AM) from HCC in autopsy series ranges from 4.6 to 12.5%, and it is the second most common site of metastasis after the lungs. To date, there have been few reports of patients who underwent adrenalectomy for isolated AM from HCC after liver transplantation (LT). A woman aged 55 years was referred to our clinic for the evaluation of a right adrenal mass that was detected by abdominal ultrasonography at another center...
October 2017: Indian Journal of Surgery
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