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https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#1
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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/28181818/recommendations-for-the-management-of-adrenal-incidentalomas-what-is-pertinent-for-radiologists
#3
Anju Sahdev
Adrenal incidentalomas are unsuspected, asymptomatic adrenal masses detected on imaging. Most are non-functioning benign adrenocortical adenomas, but can represent other benign lesions or lesions requiring therapeutic intervention including adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis. This review summarises and highlights radiological recommendations within the recently issued guidelines for the management of adrenal incidentalomas from European Society of Endocrinology Clinical Practice in collaboration with European Network for Study of Adrenal Tumours...
February 9, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28168953/stroke-disclosing-primary-aldosteronism-report-on-three-cases-and-review-of-the-literature
#4
Amina Nasri, Malek Mansour, Zeineb Brahem, Amel Kacem, Ahmed Abou Hassan, Hager Derbali, Meriem Messelmani, Jamel Zaouali, Ridha Mrissa
OBJECTIVES: There is a growing evidence of increased risk of cerebrovascular events in primary aldosteronism (PA). Nevertheless, acute neurologic ailment as presenting feature of PA is uncommon. Our aim is to highlight the diagnosis challenges in stroke unmasking PA and to discuss the underlying physiopathology and management dilemmas. MATERIALS AND METHODS: We hereby describe three consecutive rare cases of stroke revealing PA. All patients had brain imaging and thorough biological and morphological assessment to rule out other etiologies of stroke...
February 3, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28152904/quality-and-value-of-subspecialty-reinterpretation-of-outside-thoracic-ct-scans-of-patients-referred-to-a-tertiary-cancer-center
#5
Jeremy J Erasmus, Mylene Truong, Reginald F Munden, Jo-Anne O Shepard, Ryan Kristopher Clarke, Joseph Rodgers Steele
: 265 Background: At tertiary cancer centers, physicians frequently request reinterpretation of imaging studies performed at outside institutions. The purposes of this study were to determine the quality of outside computed tomography (CT) scans of the chest and compare the accuracy of accompanying radiology reports from outside institutions and our multidisciplinary cancer center. METHODS: Two thoracic radiologists graded the quality of 59 outside chest CT scans and generated independent reports for 52 of the scans...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28137990/anatomical-variations-of-the-right-adrenal-vein-concordance-between-multidetector-computed-tomography-and-catheter-venography
#6
Kensuke Omura, Hideki Ota, Yuuki Takahashi, Tomonori Matsuura, Kazumasa Seiji, Yoichi Arai, Ryo Morimoto, Fumitoshi Satoh, Kei Takase
Adrenal venous sampling is the most reliable diagnostic procedure to determine surgical indications in primary aldosteronism. Because guidelines recommend multidetector computed tomography (CT) to evaluate the adrenal gland, some past reports used multidetector CT as a guide for adrenal venous sampling. However, the detailed anatomy of the right adrenal vein and its relationship with an accessory hepatic vein remains uncertain. The purpose of this study was to describe detailed anatomical variations of the right adrenal vein and to determine the concordance between CT and catheter venography in patients with primary aldosteronism...
March 2017: Hypertension
https://www.readbyqxmd.com/read/28133281/-a-case-of-gist-of-the-stomach-with-long-term-survival-after-multidisciplinary-treatment-including-four-surgical-resections-of-liver-metastases
#7
Masatoshi Kitakaze, Motohiro Hirao, Atsushi Miyamoto, Takuya Hamakawa, Kazuyoshi Yamamoto, Kazuhiro Nishikawa, Sakae Maeda, Mamoru Uemura, Masakazu Miyake, Naoki Hama, Michihiko Miyazaki, Masataka Ikeda, Shoji Nakamori, Hiroki Kiyokawa, Masayuki Mano, Mitsugu Sekimoto
The most frequent relapse site of gastrointestinal stromal tumors(GIST)is the liver. We encountered a patient with longterm survival treated with multidisciplinary treatment, including4 hepatectomies for liver metastases. The patient was a woman aged 69 years at the time of the first medical treatment. She underwent total gastrectomy and S6 segmental hepatec- tomy for a stomach GIST with a hepatic metastasis. The tumor diameter was 24 cm and the mitotic figure was 65/50 HPF. According to the guidelines, it was diagnosed as a high risk GIST based on strong positive immunostaining for CD34 and c-kit...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28133068/-resection-of-adrenal-metastasis-after-chemotherapy-and-radiation-therapy-for-a-patient-with-stage-iv-b-hepatocellular-carcinoma
#8
Hiroyuki Kanomata, Yasuji Seyama, Hiroki Kudo, Atsumi Tamura, Yuzo Toyama, Gen Kimura, Tooru Tanizawa, Masahiro Warabi, Masamichi Takahashi, Yujiro Matsuoka, Shunsuke Kondo, Yukio Miyamoto, Nobutaka Umekita
In the treatment of hepatocellular carcinoma, atypical, off guideline multidisciplinary approaches are sometimes effective. A 70-year-old man was diagnosed with multiple hepatocellular carcinomas, multiple bone metastases, and a right adrenal metastasis. Sunitinib was started and the primary hepatic lesions and bone metastases disappeared. However, his adrenal metastasis worsened. Sorafenib, radiotherapy, and some investigational agents were administered, but the adrenal metastasis did not respond. There were no other new lesions except the adrenal lesion 4 years after the initial treatment, so we decided to perform a resection...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
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
#9
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/28098598/science-of-intracrinology-in-postmenopausal-women
#10
Fernand Labrie, Alain Bélanger, Georges Pelletier, Céline Martel, David F Archer, Wulf H Utian
OBJECTIVE: To illustrate the marked differences between classical endocrinology that distributes hormones to all tissues of the body through the bloodstream and the science of intracrinology, whereby each cell of each peripheral tissue makes a small and appropriate amount of estrogens and androgens from the inactive precursor dehydroepiandrosterone (DHEA), DHEA being mainly of adrenal origin. Because only the inactivated sex steroids are released in the blood, influence in the other tissues is avoided...
January 16, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28076290/tailored-interactive-sequences-for-continuous-mr-image-guided-freehand-biopsies-of-different-organs-in-an-open-system-at-1-0-tesla-t-initial-experience
#11
Florian Streitparth, Christian Althoff, Martin Jonczyk, Felix Guettler, Martin Maurer, Hendrik Rathke, Keno Moritz Sponheuer, Bernd Hamm, Ulf K Teichgräber, Maximilian de Bucourt
OBJECTIVES: To assess the feasibility, image quality, and accuracy of freehand biopsies of liver, bone, muscle, vertebral disc, soft tissue, and other lesions using balanced steady-state free precession (SSFP, balanced fast field echo: bFFE), spoiled and nonspoiled gradient echo (FFE), and turbo spin echo (TSE) sequences for interactive continuous navigation in an open magnetic resonance imaging (MRI) system at 1.0 tesla (T). METHODS: Twenty-six MR-guided biopsies (five liver, five bone, four muscle, four vertebral disc, one lung, one kidney, one suprarenal gland, and five soft or other tissue) were performed in 23 patients in a 1...
January 11, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28066990/management-of-adrenal-masses-in-patients-with-beckwith-wiedemann-syndrome
#12
Suzanne P MacFarland, Sogol Mostoufi-Moab, Kristin Zelley, Peter A Mattei, Lisa J States, Tricia R Bhatti, Kelly A Duffy, Garrett M Brodeur, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of adrenal findings in BWS patients. The altered expression of the 11p15 region is likely related to adrenal gland hyperplasia and growth dysregulation. Given the absence of guidelines for managing adrenal findings in BWS, we propose a systematic approach to adrenal findings in BWS patients, to allow for maximum detection of potentially malignant pathology without posing additional risk to patients...
January 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28051122/kras-mutation-incidence-and-prognostic-value-are-metastatic-site-specific-in-lung-adenocarcinoma-poor-prognosis-in-patients-with-kras-mutation-and-bone-metastasis
#13
Zoltan Lohinai, Thomas Klikovits, Judit Moldvay, Gyula Ostoros, Erzsebet Raso, Jozsef Timar, Katalin Fabian, Ilona Kovalszky, István Kenessey, Clemens Aigner, Ferenc Renyi-Vamos, Walter Klepetko, Balazs Dome, Balazs Hegedus
Current guidelines lack comprehensive information on the metastatic site-specific role of KRAS mutation in lung adenocarcinoma (LADC). We investigated the effect of KRAS mutation on overall survival (OS) in this setting. In our retrospective study, 500 consecutive Caucasian metastatic LADC patients with known KRAS mutational status were analyzed after excluding 32 patients with EGFR mutations. KRAS mutation incidence was 28.6%. The most frequent metastatic sites were lung (45.6%), bone (26.2%), adrenal gland (17...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28035585/effect-of-exercise-on-ovulation-a-systematic-review
#14
REVIEW
Osnat Hakimi, Luiz-Claudio Cameron
BACKGROUND: Infertility has been described as a devastating life crisis for couples, and has a particularly severe effect on women, in terms of anxiety and depression. Anovulation accounts for around 30% of female infertility, and while lifestyle factors such as physical activity are known to be important, the relationship between exercise and ovulation is multi-factorial and complex, and to date there are no clear recommendations concerning exercise regimes. OBJECTIVES: The objective of this review was to systematically assess the effect of physical activity on ovulation and to discuss the possible mechanisms by which exercise acts to modulate ovulation in reproductive-age women...
December 29, 2016: Sports Medicine
https://www.readbyqxmd.com/read/27974908/cushing-s-disease-a-multidisciplinary-overview-of-the-clinical-features-diagnosis-and-treatment
#15
REVIEW
A Buliman, L G Tataranu, D L Paun, A Mirica, C Dumitrache
Cushing's disease is considered a rare condition characterized by the hypersecretion of the adrenocorticotropic hormone (ACTH) due to a pituitary adenoma that ultimately causes endogenous hypercortisolism by stimulating the adrenal glands. The clinical signs suggesting Cushing's disease, such as obesity, moon face, hirsutism, and facial plethora are already present on presentation. Endogenous hypercortisolism is associated with an increased risk of cardiovascular and metabolic manifestations, as well as respiratory disorders, psychiatric complications, osteoporosis and infections, leading to high rates of morbidity and mortality...
January 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27936531/endocrinology-update-hirsutism
#16
Joel J Heidelbaugh
Hirsutism is defined as excessive terminal hair growth, such as coarse sexual or secondary hair, that typically appears in a male growth pattern in androgen-dependent areas of the female body. It can occur in men and women. Common etiologies include polycystic ovary syndrome, idiopathic hyperandrogenemia, idiopathic hirsutism, adrenal hyperplasia due to 21-hydroxylase deficiency, androgen-secreting tumors, iatrogenic hirsutism, acromegaly, Cushing syndrome, hyperprolactinemia, and hypo- or hyperthyroidism. Diagnostic guidelines are predominantly aimed at premenopausal women but an appropriate evaluation for underlying endocrinopathies in postmenopausal women and men may be required...
December 2016: FP Essentials
https://www.readbyqxmd.com/read/27928727/benefits-and-risks-of-long-term-asthma-management-in-children-where-are-we-heading
#17
Hengameh H Raissy, H William Kelly
International guidelines provide recommendations for a stepwise approach to the management of asthma in children 0-4 years old, 5-11 years old, and adolescents who are treated as adults. Therapy is aimed at two domains of control: current impairment and future risk. The long-term controller medications, inhaled corticosteroids (ICSs), ICSs in combination with long-acting β2 agonists, leukotriene receptor antagonists, and immunomodulators, exhibit different efficacies for these domains. The risk:benefit ratios of the available medications need to be carefully assessed...
December 7, 2016: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/27908250/hypoglycemia-and-cardiac-arrhythmia-mechanisms-evidence-base-and-current-recommendations
#18
Sitara Gulrukh Khan, Mohammed Shahriar Huda
BACKGROUND: With the use of intensive insulin therapy and insulin secretagogues to optimize glycemic control in diabetes, hypoglycemia continues to present a clinical challenge. Hypoglycemia has been implicated in nocturnal sudden death in type 1 diabetes, and the mechanism underlying this is postulated to be cardiac arrhythmia. OBJECTIVE: This article reviews the evidence surrounding hypoglycemia and cardiac arrhythmia. METHODS: A structured search of the Pubmed bibliographic database was undertaken, and relevant peer-reviewed articles on the topic were included in the review...
December 1, 2016: Current Diabetes Reviews
https://www.readbyqxmd.com/read/27843033/benchmark-credentialing-results-for-nrg-br001-the-first-national-cancer-institute-sponsored-trial-of-stereotactic-body-radiation-therapy-for-multiple-metastases
#19
Hania A Al-Hallaq, Steven J Chmura, Joseph K Salama, Jessica R Lowenstein, Susan McNulty, James M Galvin, David S Followill, Clifford G Robinson, Thomas M Pisansky, Kathryn A Winter, Julia R White, Ying Xiao, Martha M Matuszak
PURPOSE: The NRG-BR001 trial is the first National Cancer Institute-sponsored trial to treat multiple (range 2-4) extracranial metastases with stereotactic body radiation therapy. Benchmark credentialing is required to ensure adherence to this complex protocol, in particular, for metastases in close proximity. The present report summarizes the dosimetric results and approval rates. METHODS AND MATERIALS: The benchmark used anonymized data from a patient with bilateral adrenal metastases, separated by <5 cm of normal tissue...
January 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/27802863/adrenal-incidentalomas-are-they-being-worked-up-appropriately
#20
Pooja Sahni, Apoorva Trivedi, Abdulkadir Omer, Nitin Trivedi
INTRODUCTION: Adrenal incidentalomas are defined as masses picked up on imaging studies that were done for apparently different reasons. With frequent use of imaging modalities, incidental adrenal masses are commonly encountered in clinical practice. Guidelines are currently available for the diagnosis and management of adrenal incidentalomas, but the appropriateness of initial work-up and subsequent follow-up of incidental adrenal masses in the community hospital setting is unknown. OBJECTIVE: We studied the appropriateness of initial work-up and follow-up of incidental adrenal masses discovered on abdominal computerized tomography (CT)...
2016: Journal of Community Hospital Internal Medicine Perspectives
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