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https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#1
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28400916/angiotensin-receptor-blocker-drugs-and-inhibition-of-adrenal-beta-arrestin-1-dependent-aldosterone-production-implications-for-heart-failure-therapy
#2
EDITORIAL
Anastasios Lymperopoulos, Beatrix Aukszi
Aldosterone mediates many of the physiological and pathophysiological/cardio-toxic effects of angiotensin II (AngII). Its synthesis and secretion from the zona glomerulosa cells of the adrenal cortex, elevated in chronic heart failure (HF), is induced by AngII type 1 receptors (AT1Rs). The AT1R is a G protein-coupled receptor, mainly coupling to Gq/11 proteins. However, it can also signal through β-arrestin-1 (βarr1) or -2 (βarr2), both of which mediate G protein-independent signaling. Over the past decade, a second, Gq/11 protein-independent but βarr1-dependent signaling pathway emanating from the adrenocortical AT1R and leading to aldosterone production has become appreciated...
March 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28383228/classic-congenital-adrenal-hyperplasia
#3
Ingrid Nermoen, Eystein S Husebye, Anne Grethe Myhre, Kristian Løvås
Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.
April 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/28377801/current-best-practice-in-the-management-of-patients-after-pituitary-surgery
#4
REVIEW
Alessandro Prete, Salvatore Maria Corsello, Roberto Salvatori
Sellar and parasellar masses are a common finding, and most of them are treated surgically via transsphenoidal approach. This type of surgery has revolutionized the approach to several hypothalamic-pituitary diseases and is usually effective, and well-tolerated by the patient. However, given the complex anatomy and high density of glandular, neurological and vascular structures in a confined space, transsphenoidal surgery harbors a substantial risk of complications. Hypopituitarism is one of the most frequent sequelae, with central adrenal insufficiency being the deficit that requires a timely diagnosis and treatment...
March 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28361555/life-threatening-endocrine-emergencies-during-pregnancy-management-and-therapeutic-features
#5
Birgit Harbeck, Amir-Hossein Rahvar, Sven Danneberg, Morten Schütt, Friedhelm Sayk
Endocrine emergencies during pregnancy may be life-threatening events for both mother and fetus. Besides pregnancy-associated endocrine disorders, several pre-existing endocrinopathies such as type-1 diabetes and Grave's disease or adrenal failure may acutely deteriorate during pregnancy. Since "classical" signs are often modified by pregnancy, early diagnosis and management may be hampered. In addition, laboratory tests show altered physiologic ranges and pharmacologic options are limited while therapeutic goals are mostly tighter than in the non-pregnant patient...
March 31, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#6
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28326749/a-case-of-autoimmune-polyendocrine-syndrome-type-i-with-strong-positive-gad-antibody-titer-followed-up-with-glucose-tolerance-measured-by-oral-glucose-tolerance-test
#7
Rie Murakami, Toshihide Kawai, Shu Meguro, Matsuhiko Hayashi, Hiroshi Itoh
A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Her condition remained stable under treatment with cortisone, fludrocortisone, levothyroxine, calcium lactate, precipitated calcium carbonate and alfacalcidol...
January 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28320817/symptomatic-adrenal-suppression-among-children-in-canada
#8
Ellen B Goldbloom, Arati Mokashi, Elizabeth A Cummings, Sharon Abish, Susanne M Benseler, Hien Q Huynh, Wade Watson, Alexandra Ahmet
BACKGROUND: Adrenal suppression (AS) is an under-recognised side effect of glucocorticoid (GC) use. AS may go undetected until a physiological stress precipitates an adrenal crisis. The incidence of AS has not been established. We sought to estimate the minimum national incidence and presenting features of paediatric symptomatic AS. METHODS: Through the established methodology of the Canadian Paediatric Surveillance Program, over 2500 paediatricians were surveyed monthly for 2 years (April 2010-March 2012) to report new cases of symptomatic AS...
April 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28303382/a-rare-case-of-non-traumatic-multi-level-bilateral-pedicle-fractures-of-the-lumbar-spine-in-a-60-year-old-patient
#9
Timo Schmid, Paul Heini, Lorin Benneker
INTRODUCTION: We report a 60-year-old patient who sustained non-traumatic, multi-level, bilateral lumbar pedicle fractures in the setting of unilateral lumbar spondylolysis. A possible fracture mechanism is evaluated and a review of the literature is presented. Whereas contralateral pedicle fractures of lumbar vertebrae with unilateral spondylosis are well described in young athletes, there is only one case report of multi-level, bilateral pedicle fractures of the lumbar spine in a young patient who sustained a high-impact motorcycle accident...
March 16, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28290886/-the-insufficiency-type-of-metabolic-balance-and-nutritional-status-in-patient-with-heart-failure
#10
A G Obrezan, S A Spitsa
A lot of data has been accumulated at present on the metabolic and nutritional insufficiency in patients with chronic heart failure (CHF). Researchers have noted an actuality of the study of nutritional and metabolic insufficiency in CHF patients as independent factors affecting the course of CHF and because of its relationship with triggers of inflammation, sympathetic-adrenal system, and markers of functional state of the cardiovascular system (CVS). In some works attention has been given to relationship of nutritional and metabolic insufficiency with autonomic regulation of cardiac rhythm...
August 2016: Kardiologiia
https://www.readbyqxmd.com/read/28283034/hypo-or-conventionally-fractionated-radiotherapy-combined-with-chemotherapy-in-patients-with-limited-stage-small-cell-lung-cancer
#11
Jing Zhang, Min Fan, Di Liu, Kuai-Le Zhao, Kai-Liang Wu, Wei-Xin Zhao, Zheng-Fei Zhu, Xiao-Long Fu
BACKGROUND: Previous data from our institution showed that hypofractionated thoracic radiotherapy (HypoTRT) with concurrent etoposide/platinum chemotherapy yielded favorable survival in patients with limited-stage small cell lung cancer (LS-SCLC). The present study retrospectively compared the survival outcomes, failure patterns and toxicities between groups of LS-SCLC patients treated with conventionally fractionated thoracic radiotherapy (ConvTRT) or HypoTRT combined with chemotherapy...
March 11, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/28257896/orexin-2-receptor-regulation-of-the-hypothalamic-pituitary-adrenal-hpa-response-to-acute-and-repeated-stress
#12
Laura A Grafe, Darrell Eacret, Sandra Luz, Anthony L Gotter, John J Renger, Chris J Winrow, Seema Bhatnagar
Orexins are hypothalamic neuropeptides that have a documented role in mediating the acute stress response. However, their role in habituation to repeated stress, and the role of orexin receptors (OX1R and OX2R) in the stress response, has yet to be defined. Orexin neuronal activation and levels in the cerebrospinal fluid (CSF) were found to be stimulated with acute restraint, but were significantly reduced by day five of repeated restraint. As certain disease states such as panic disorder are associated with increased central orexin levels and failure to habituate to repeated stress, the effect of activating orexin signaling via Designer Receptors Exclusively Activated by Designer Drugs (DREADDs) on the hypothalamic-pituitary-adrenal (HPA) response was evaluated after repeated restraint...
April 21, 2017: Neuroscience
https://www.readbyqxmd.com/read/28188961/high-serum-progesterone-associated-with-infertility-in-a-woman-with-nonclassic-congenital-adrenal-hyperplasia
#13
Yoshimasa Kawarai, Hiroshi Ishikawa, Tomoya Segawa, Shokichi Teramoto, Tomoaki Tanaka, Makio Shozu
Nonclassic congenital adrenal hyperplasia (NCAH) is an autosomal-recessive disorder caused by 21-hydroxylase deficiency and manifests as hirsutism and oligomenorrhea due to excess adrenal androgen and progesterone. We report a case of a woman with NCAH who showed continuous high serum progesterone levels in the follicular phase associated with impaired folliculogenesis. NCAH was diagnosed based on high 17-hydroxyprogesterone levels after rapid adrenocorticotropic hormone loading, and three heterozygous missense mutations in CYP21A2, encoding 21-hydroxylase, were identified...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28179447/diagnosis-of-endocrine-disease-differentiation-of-pathologic-neoplastic-hypercortisolism-cushing-s-syndrome-from-physiologic-non-neoplastic-hypercortisolism-formerly-known-as-pseudo-cushing-s-syndrome
#14
REVIEW
James W Findling, Hershel Raff
Endogenous hypercortisolism (Cushing's syndrome) usually implies the presence of a pathologic condition caused by either an ACTH-secreting neoplasm or autonomous cortisol secretion from a benign or malignant adrenal neoplasm. However, sustained or intermittent hypercortisolism may also accompany many medical disorders that stimulate physiologic/non-neoplastic activation of the HPA axis (formerly known as pseudo-Cushing's syndrome); these two entities may share indistinguishable clinical and biochemical features...
May 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28178580/dual-hormone-stress-reactivity-predicts-downstream-war-zone-stress-evoked-ptsd
#15
Robert A Josephs, Adam R Cobb, Cynthia L Lancaster, Han-Joo Lee, Michael J Telch
BACKGROUND: The crucial role of the hypothalamic-pituitary-adrenal axis (HPA) in stress-related homeostasis suggests dysregulated HPA involvement in the pathogenesis of post-traumatic stress disorder (PTSD), yet most studies examining linkages between HPA axis measures and PTSD have yielded null findings. One untested explanation for this inconsistency is a failure to account for simultaneous adrenal and gonadal influence. Here we tested the singular and interactive effects of cortisol (CR) and testosterone (TR) reactivity as moderators of war-zone stress evoked PTSD emergence in the war-zone...
January 19, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28163695/acth-action-on-messenger-rna-stability-mechanisms
#16
Agnès Desroches-Castan, Jean-Jacques Feige, Nadia Cherradi
The regulation of mRNA stability has emerged as a critical control step in dynamic gene expression. This process occurs in response to modifications of the cellular environment, including hormonal variations, and regulates the expression of subsets of proteins whose levels need to be rapidly adjusted. Modulation of messenger RNA stability is usually mediated by stabilizing or destabilizing RNA-binding proteins (RNA-BP) that bind to the 3'-untranslated region regulatory motifs, such as AU-rich elements (AREs)...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28093870/acute-management-of-autoimmune-toxicity-in-cancer-patients-on-immunotherapy-common-toxicities-and-the-approach-for-the-emergency-physician
#17
Anna J Lomax, Catriona McNeil
When a patient receiving anti-cancer treatment presents acutely unwell, an understanding of associated side effects of their therapy is critical. This review will discuss the approach to patients receiving anti-cancer treatment with immunotherapy presenting with autoimmune toxicities in the emergency setting. These toxicities are commonly referred to as immune-related adverse events (irAE). IrAE might consist of, but are not limited to, dermatologic, gastrointestinal (diarrhoea, colitis), hepatic, endocrine (thyroid dysfunction, hypophysitis, adrenal crisis), renal, ocular and pulmonary toxicity...
April 2017: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/28090186/calcitriol-mediated-reversible-hypercalcemia-in-a-patient-with-primary-adrenal-lymphoma
#18
Shahnaz Ahmad Mir, Shariq Rashid Masoodi, Arshad Iqbal Wani, Syed Nisar Ahmad, Iqra Hameed
Primary adrenal lymphomas (PAL) are rare occurrences with only less than 150 cases reported in the literature. Two-thirds of these cases were reported in the last decade due to the advancements in imaging techniques and immunohistochemistry. The non-specific signs and symptoms have resulted in a delayed onset of symptoms and diagnosis of these tumors. Reports of the results of chemotherapy are not gratifying, and most patients die within one year of the diagnosis. We report a 65-year-old male with adrenal non-Hodgkin's lymphoma (NHL), who presented with hypercalcemia and renal failure...
November 2016: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/28087255/unknown-face-of-known-drugs-what-else-can-we-expect-from-angiotensin-converting-enzyme-inhibitors
#19
REVIEW
Anna Wzgarda, Robert Kleszcz, Monika Prokop, Katarzyna Regulska, Milosz Regulski, Jaroslaw Paluszczak, Beata J Stanisz
The renin-angiotensin system (RAS) is one of important systems among homeostatic mechanisms that control the function of cardiovascular, renal and adrenal systems. As RAS has a very complex nature, it has been also found as related to the control of cell migration and apoptosis. Angiotensin-converting enzyme inhibitors (ACEI) are drugs most commonly used in the modulation of RAS activity. ACEI have been extensively described as effective in the treatment of hypertension among adults, but also as drugs delaying progression in diabetic nephropathy and reducing mortality in left ventricular dysfunction and congestive heart failure...
February 15, 2017: European Journal of Pharmacology
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...
2017: International Journal of Surgery Case Reports
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