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https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#1
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29247675/adrenergic-and-glucocorticoid-receptor-antagonists-reduce-ozone-induced-lung-injury-and-inflammation
#2
Andres R Henriquez, Samantha J Snow, Mette C Schladweiler, Colette N Miller, Janice A Dye, Allen D Ledbetter, Judy E Richards, Kevin Mauge-Lewis, Marie A McGee, Urmila P Kodavanti
Recent studies showed that the circulating stress hormones, epinephrine and corticosterone/cortisol, are involved in mediating ozone-induced pulmonary effects through the activation of the sympathetic-adrenal-medullary (SAM) and hypothalamus-pituitary-adrenal (HPA) axes. Hence, we examined the role of adrenergic and glucocorticoid receptor inhibition in ozone-induced pulmonary injury and inflammation. Male 12-week old Wistar-Kyoto rats were pretreated daily for 7days with propranolol (PROP; a non-selective β adrenergic receptor [AR] antagonist, 10mg/kg, i...
January 15, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29239034/succinate-dehydrogenase-sdh-deficient-neoplasia
#3
REVIEW
Anthony J Gill
The succinate dehydrogenase (SDH) complex is a key respiratory enzyme composed of four subunits: SDHA, SDHB, SDHC and SDHD. Remarkably, immunohistochemistry for SDHB becomes negative whenever there is bi-alleic inactivation of any component of SDH, which is very rare in the absence of syndromic disease. Therefore, loss of SDHB immunohistochemistry serves as a marker of syndromic disease, usually germline mutation of one of the SDH subunits. Tumours which show loss of SDHB expression are termed succinate dehydrogenase-deficient...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29198444/endocrine-and-metabolic-assessment-in-adults-with-langerhans-cell-histiocytosis
#4
L Montefusco, S Harari, D Elia, A Rossi, C Specchia, O Torre, G Adda, M Arosio
CONTEXT: Diabetes insipidus (DI) is one of most common complications of Langerhans cell histiocytosis (LCH) but prevalence of anterior pituitary deficiencies and metabolic alterations have not been clearly defined yet. OBJECTIVES: Evaluate prevalence of endocrine and metabolic manifestations in a cohort of patients affected by Pulmonary LCH. METHODS: Observational cross-sectional study on 18 adults (7 M/11 F, 42±12years) studied for complete basal and dynamic endocrine lab tests and glucose metabolism...
November 29, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/29158903/severe-cushing-s-syndrome-and-bilateral-pulmonary-nodules-beyond-ectopic-acth
#5
Carlos Tavares Bello, Emma van der Poest Clement, Richard Feelders
Cushing's syndrome is a rare disease that results from prolonged exposure to supraphysiological levels of glucocorticoids. Severe and rapidly progressive cases are often, but not exclusively, attributable to ectopic ACTH secretion. Extreme hypercortisolism usually has florid metabolic consequences and is associated with an increased infectious and thrombotic risk. The authors report on a case of a 51-year-old male that presented with severe Cushing's syndrome secondary to an ACTH-secreting pituitary macroadenoma, whose diagnostic workup was affected by concurrent subclinical multifocal pulmonary infectious nodules...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29113155/poems-syndrome-presentation-with-progressive-weakness-in-upper-and-lower-limbs-a-case-report
#6
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/29070772/coexisting-thymic-and-pulmonary-carcinoid-tumors-associated-with-multiple-endocrine-neoplasia-type1
#7
Makoto Motoishi, Kanna Horimoto, Kazuki Hayashi, Satoru Sawai, Koki Moriyoshi
An anterior mediastinal tumor was detected in a 45-year-old female during a medical checkup. Chest computed tomography (CT) showed the anterior mediastinal tumor and a pulmonary tumor in the right lower lobe. Furthermore, tumors of the parathyroid gland, pancreas, and pituitary gland were also detected. She was clinically diagnosed with multiple endocrine neoplasia type1 (MEN1). The patient underwent extended thymectomy combined with mediastinal lymph node dissection and wedge resection of the lung including the right pulmonary lesion via a median sternotomy...
October 26, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29032078/efficacy-and-safety-of-once-monthly-pasireotide-in-cushing-s-disease-a-12-month-clinical-trial
#8
André Lacroix, Feng Gu, Wilson Gallardo, Rosario Pivonello, Yerong Yu, Przemysław Witek, Marco Boscaro, Roberto Salvatori, Masanobu Yamada, Libuse Tauchmanova, Michael Roughton, Shoba Ravichandran, Stephan Petersenn, Beverly M K Biller, John Newell-Price
BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing long-acting intramuscular pasireotide in patients with Cushing's disease. METHODS: In this phase 3 clinical trial we recruited patients aged 18 years or older with persistent, recurrent, or de-novo (non-surgical candidates) Cushing's disease who had a mean urinary free cortisol (mUFC) concentration (from three 24 h samples) of 1·5-5·0 times the upper limit of normal (ULN), a normal or greater than normal morning plasma adrenocorticotropic hormone concentration, and a pituitary source of Cushing's syndrome, from 57 sites across 19 countries...
October 12, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28944115/demographics-and-incidence-of-histologically-confirmed-intracranial-tumors-a-five-year-two-center-prospective-study
#9
George S Stoyanov, Deyan L Dzhenkov, Martina Kitanova, Peter Ghenev, Anton B Tonchev
Introduction Intracranial tumors (ICTs) are a diverse group of malignancies that pose an immediate threat to patients' lives, no matter their local or metastatic origin, benign or malignant nature. These lesions have severe clinical courses and need to be diagnosed and treated as soon as possible, with pathological verification being the pivotal moment in the process of determining curative modalities. Aim The aim of this study was to compare the incidence of histologically confirmed ICTs in Eastern Bulgaria, based on their type (primary, metastatic, and non-volume occupying lesions (NVOL)), their respective subtypes, and incidence in a descriptive manner...
July 16, 2017: Curēus
https://www.readbyqxmd.com/read/28870031/-the-clinical-characteristics-of-346-patients-with-igg4-related-disease
#10
P P Zhang, J Z Zhao, M Wang, R E Feng, X W Liu, X M Lai, X J Li, J G Zeng, H J Shi, H D Zhu, W Xue, H Zhang, Y Y Chen, L Y Fei, X F Peng, F C Zeng, Y M Zhang, W Zhang
Objective: To analyze the clinical characteristics of IgG4-related disease (IgG4-RD)so as to improve the understanding of IgG4-RD in China. Methods: IgG4-RD patients were recruited from Peking Union Medical College Hospital between January 2011 and January 2016. All patients were followed-up for more than 6 months. The demographic characteristics, symptoms, organ involvements, laboratory examinations and treatment efficacy were evaluated and analyzed. Results: A total of 346 patients were finally enrolled, including 230 males (66...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28840066/pituitary-carcinoma-a-case-report-and-discussion-of-potential-value-of-combined-use-of-ga-68-dotatate-and-f-18-fdg-pet-ct-scan-to-better-choose-therapy
#11
Heraldo Mendes Garmes, José Barreto Campello Carvalheira, Fabiano Reis, Luciano de Souza Queiroz, Mateus Dal Fabbro, Vanessa de Fatima Porto Souza, Allan de Oliviera Santos
BACKGROUND: Pituitary carcinoma is extremely rare and carries a very poor prognosis. In most cases, apparently indolent tumors become malignant; however, there are no satisfactory biomarkers for predicting tumor behavior. Thus, scientific advances in the search for new biological markers, diagnostic methods, and therapies are needed to improve the prognosis of these patients. CASE DESCRIPTION: We report the case of a woman with initial diagnosis of nonfunctioning pituitary adenoma which evolved to carcinoma after 4 years...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28816283/-surgery-treatment-of-ectopic-adrenocorticotrophic-hormone-syndrome
#12
H Fan, H Z Li, W F Xu, Z G Ji, Y S Zhang
OBJECTIVE: To investigation the diagnosis and treatment of ectopic adrenocorticotrophic hormone (ACTH) syndrome. METHODS: The clinical characters of 57 cases of ecotopic ACTH syndrome from Jan. 1996 to Dec. 2016 were collected and analyzed. The 57 cases included 32 males and 25 females. The age ranged from 11 to 68 years (average 32 years). ACTH levels significantly increased from 16.5 to 365.6 pmol/L, with average 77.6 pmol/L (normal range <10.1 pmol/L). The pituitary MRI did not found lesions...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28700464/cryptococcal-meningitis-after-transnasal-transsphenoidal-pituitary-microsurgery-of-acth-secreting-pituitary-adenoma-a-case-report
#13
Yang Liu, Ming Feng, Yong Yao, Kan Deng, Xinjie Bao, Xiaohai Liu, Renzhi Wang
RATIONALE: Microbial infection should be regarded in the differential diagnosis of neurosurgical complications after transnasal transsphenoidal pituitary microsurgery, albeit cryptococcal meningitis is rare. This article will discuss the risk factors of cryptococcal meningitis in patients underwent transnasal transsphenoidal pituitary microsurgery, and summary the potential origins of infection. PATIENT CONCERNS AND DIAGNOSIS: Here, we report a case of 37-year-old male who had cryptococcal meningitis after transnasal transsphenoidal pituitary microsurgery of a relapsing ACTH-secreting pituitary adenoma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28671280/impact-of-obstructive-sleep-apnea-in-transsphenoidal-pituitary-surgery-an-analysis-of-inpatient-data
#14
Sei Y Chung, Michael J Sylvester, Varesh R Patel, Michael Zaki, Soly Baredes, James K Liu, Jean Anderson Eloy
OBJECTIVES/HYPOTHESIS: Although previous studies have reported increased perioperative complications among obstructive sleep apnea (OSA) patients undergoing any surgery requiring general anesthesia, there is a paucity of literature addressing the impact of OSA on postoperative transsphenoidal surgery (TSS) complications. The aim of this study was to analyze postoperative outcomes in transsphenoidal pituitary surgery patients with OSA. Secondarily, we examined patient characteristics and comorbidities...
July 3, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28667039/sellar-and-suprasellar-anaplastic-hemangiopericytoma-in-a-34-year-old-man
#15
Bradley Gibson, Chiara Mancini, John Parker, Michael Applebaum, Houda Alatassi
Central nervous system hemangiopericytomas are rare, representing <1% of all primary central nervous system tumors. Hemangiopericytomas of the sellar region are exceptionally rare. Here we present a case of a sellar/suprasellar anaplastic hemangiopericytoma.The patient is a 34 year old man with a history of a resected pituitary tumor, diagnosed as a pituitary adenoma per the patient, who presented with bitemporal hemianopsia. Radiology revealed a 3.7 cm enhancing sellar/suprasellar mass with local mass effect, consistent with a pituitary adenoma...
May 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28642733/a-case-of-pulmonary-carcinoid-tumor-with-a-superimposed-aspergilloma-presenting-as-a-covert-ectopic-adrenocorticotropic-hormone-syndrome
#16
Kyoung Jin Kim, Ji Hee Yu, Nan Hee Kim, Young Hye Kim, Young Sik Kim, Ji A Seo
Ectopic adrenocorticotropic hormone (ACTH) syndrome is a challenging diagnosis only responsible for approximately 10% of Cushing syndrome cases. It has been associated with a variety of benign and malignant tumors including a carcinoid tumor accompanied by aspergilloma in our case that was significantly difficult to be detected. We report a patient over 70 years old with uncontrolled hypertension and hypokalemia presenting with generalized edema. Laboratory results revealed ACTH-dependent Cushing syndrome, but imaging studies did not show any discrete lesions secreting ACTH...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28607780/homonymous-superior-quadrantanopia-due-to-erdheim-chester-disease-with-asymptomatic-pituitary-involvement
#17
Roaa Ridha Amer, Sara Mohammed Qubaiban, Eman Abdulkarim Bakhsh
Polyostotic sclerosing histiocytosis, also known as Erdheim-Chester disease (ECD), is a rare form of non-Langerhans histiocytosis. ECD has wide clinical spectrums which mainly affect skeletal, neurological, dermatological, retroperitoneal, cardiac, and pulmonary manifestations. Here we describe a case of ECD in a 45-year-old female who presented initially with bilateral knee pain and homonymous superior quadrantanopia progressed to ophthalmoplegia and complete visual loss of the left eye over a period of one year...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28598268/effects-of-pulmonary-exposure-to-chemically-distinct-welding-fumes-on-neuroendocrine-markers-of-toxicity
#18
K Krajnak, K Sriram, C Johnson, J R Roberts, R Mercer, G R Miller, O Wirth, J M Antonini
Exposure to welding fumes may result in disorders of the pulmonary, cardiovascular, and reproductive systems. Welders are also at a greater risk of developing symptoms similar to those seen in individuals with idiopathic Parkinson's disease. In welders, there are studies that suggest that alterations in circulating prolactin concentrations may be indicative of injury to the dopamine (DA) neurons in the substantia nigra. The goal of these studies was to use an established model of welding particulate exposure to mimic the effects of welding fume inhalation on reproductive functions...
2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28541489/respiratory-effects-and-systemic-stress-response-following-acute-acrolein-inhalation-in-rats
#19
Samantha J Snow, Marie A McGee, Andres Henriquez, Judy E Richards, Mette C Schladweiler, Allen D Ledbetter, Urmila P Kodavanti
Previous studies have demonstrated that exposure to the pulmonary irritant ozone causes myriad systemic metabolic and pulmonary effects attributed to sympathetic and hypothalamus-pituitary-adrenal (HPA) axis activation, which are exacerbated in metabolically impaired models. We examined respiratory and systemic effects following exposure to a sensory irritant acrolein to elucidate the systemic and pulmonary consequences in healthy and diabetic rat models. Male Wistar and Goto Kakizaki (GK) rats, a nonobese type II diabetic Wistar-derived model, were exposed by inhalation to 0, 2, or 4 ppm acrolein, 4 h/d for 1 or 2 days...
August 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28458651/a-novel-tbx19-gene-mutation-in-a-case-of-congenital-isolated-adrenocorticotropic-hormone-deficiency-presenting-with-recurrent-respiratory-tract-infections
#20
Nese Akcan, Nedime Serakıncı, Burcu Turkgenc, Ruveyde Bundak, Nerin Bahceciler, Sehime G Temel
INTRODUCTION: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. CASE PRESENTATION: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits...
2017: Frontiers in Endocrinology
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