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Nelson syndrome

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https://www.readbyqxmd.com/read/29148407/minor-salivary-gland-fibrosis-in-sj%C3%A3-gren-s-syndrome-is-elevated-associated-with-focus-score-and-not-solely-a-consequence-of-aging
#1
Kerry M Leehan, Nathan P Pezant, Astrid Rasmussen, Kiely Grundahl, Jacen S Moore, Lida Radfar, David M Lewis, Donald U Stone, Christopher J Lessard, Nelson L Rhodus, Barbara M Segal, R Hal Scofield, Kathy L Sivils, Courtney Montgomery, A Darise Farris
OBJECTIVES: Evaluate the presence of minor salivary gland (SG) fibrosis in primary Sjögren's syndrome (pSS) as a function of disease pathology or a consequence of ageing. METHODS: Subjects with sicca symptoms attending a Sjögren's research clinic were classified by American European Consensus Group (AECG) criteria as either pSS or non-SS (nSS). Discovery (n=34 pSS, n=28 nSS) and replication (n=35 pSS, n=31 nSS) datasets were evaluated. Minor SG cross-sections from haematoxylin and eosin stained slides were imaged, digitally reconstructed and analysed for percent area fibrosis...
October 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29142983/efficacy-and-safety-of-sparsentan-compared-with-irbesartan-in-patients-with-primary-focal-segmental-glomerulosclerosis-randomized-controlled-trial-design-duet
#2
Radko Komers, Debbie S Gipson, Peter Nelson, Sharon Adler, Tarak Srivastava, Vimal K Derebail, Kevin E Meyers, Pablo Pergola, Meghan E MacNally, Jennifer L Hunt, Alvin Shih, Howard Trachtman
Introduction: Primary focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome and end-stage renal disease. There are no US Food and Drug Administration-approved therapies for FSGS, and treatment often fails to reduce proteinuria. Endothelin is an important factor in the pathophysiology of podocyte disorders, including FSGS. Sparsentan is a first-in-class, orally active, dual-acting angiotensin receptor blocker (ARB) and highly selective endothelin Type A receptor antagonist...
July 2017: KI Reports
https://www.readbyqxmd.com/read/29140951/platelet-aggregation-after-blunt-trauma-is-associated-with-the-acute-respiratory-distress-syndrome-and-altered-by-cigarette-smoke-exposure
#3
Farzad Moazed, Carolyn Hendrickson, Mary Nelson, Amanda Conroy, Mitchell J Cohen, Carolyn S Calfee
BACKGROUND: The risk of the acute respiratory distress syndrome (ARDS) is increased in passive and active smokers after blunt trauma. However, the mechanisms responsible, including the role of platelet aggregation, for this association are unknown. METHODS: We analyzed 215 patients with severe blunt trauma from a prospective observational cohort at a Level 1 trauma center between 2010 - 2015. Subjects underwent impedance-based platelet aggregometry in response to platelet agonists arachidonic acid (ASPI), adenosine diphosphate (ADP), collagen (COL) and thrombin receptor activating peptide-6 (TRAP)...
November 14, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29126394/prospective-study-of-autism-phenomenology-and-the-behavioural-phenotype-of-phelan-mcdermid-syndrome-comparison-to-fragile-x-syndrome-down-syndrome-and-idiopathic-autism-spectrum-disorder
#4
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS...
November 10, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29118981/zika-virus-disease-microcephaly-and-guillain-barr%C3%A3-syndrome-in-colombia-epidemiological-situation-during-21%C3%A2-months-of-the-zika-virus-outbreak-2015-2017
#5
Nelson Méndez, Misael Oviedo-Pastrana, Salim Mattar, Isaac Caicedo-Castro, German Arrieta
Background: The Zika virus disease (ZVD) has had a huge impact on public health in Colombia for the numbers of people affected and the presentation of Guillain-Barre syndrome (GBS) and microcephaly cases associated to ZVD. Methods: A retrospective descriptive study was carried out, we analyze the epidemiological situation of ZVD and its association with microcephaly and GBS during a 21-month period, from October 2015 to June 2017. The variables studied were: (i) ZVD cases, (ii) ZVD cases in pregnant women, (iii) laboratory-confirmed ZVD in pregnant women, (iv) ZVD cases associated with microcephaly, (v) laboratory-confirmed ZVD associated with microcephaly, and (vi) ZVD associated to GBS cases...
2017: Archives of Public Health, Archives Belges de Santé Publique
https://www.readbyqxmd.com/read/29107342/sweet-syndrome-in-patients-with-and-without-malignancy-a-retrospective-analysis-of-83-patients-from-a-tertiary-academic-referral-center
#6
Caroline A Nelson, Megan H Noe, Christine M McMahon, Asha Gowda, Benedict Wu, Hovik J Ashchyan, Alexander E Perl, William D James, Robert G Micheletti, Misha Rosenbach
BACKGROUND: Sweet syndrome is a neutrophilic dermatosis that may be categorized into classic, malignancy-associated, and drug-induced subtypes. Few studies have systematically analyzed this rare disorder. OBJECTIVE: To describe the clinicopathologic characteristics and treatment of Sweet syndrome and identify characteristics associated with concurrent malignancy. METHODS: We retrospectively reviewed patients with Sweet syndrome at the University of Pennsylvania from 2005 to 2015...
October 26, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29106772/effects-of-aerobic-interval-training-on-arterial-stiffness-and-microvascular-function-in-patients-with-metabolic-syndrome
#7
Ricardo Mora-Rodriguez, Miguel Ramirez-Jimenez, Valentin E Fernandez-Elias, Maria V Guio de Prada, Felix Morales-Palomo, Jesus G Pallares, Rachael K Nelson, Juan F Ortega
The authors determined the effect of high-intensity aerobic interval training on arterial stiffness and microvascular dysfunction in patients with metabolic syndrome with hypertension. Applanation tonometry was used to measure arterial stiffness and laser Doppler flowmetry to assess microvascular dysfunction before and after 6 months of stationary cycling (training group; n = 23) in comparison to a group that remained sedentary (control group; n = 23). While no variable improved in controls, hypertension fell from 79% (59%-91%) to 41% (24%-61%) in the training group, resulting in lower systolic and diastolic pressures than controls (-12 ± 3 and -6 ± 2 mm Hg, P < ...
November 6, 2017: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/29103889/minimally-invasive-hallux-interphalangeal-joint-arthrodesis-for-hallux-varus-in-pfeiffer-syndrome-a-case-report
#8
Miguel Flora, Pedro Diniz, Ana Luisa Neto, Nelson Teixeira, Paulo Carvalho, Francisco Guerra Pinto
Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability...
November 3, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29102571/multisite-investigation-of-outcomes-with%C3%A2-implementation-of-cyp2c19-genotype-guided-antiplatelet-therapy-after-percutaneous-coronary-intervention
#9
Larisa H Cavallari, Craig R Lee, Amber L Beitelshees, Rhonda M Cooper-DeHoff, Julio D Duarte, Deepak Voora, Stephen E Kimmel, Caitrin W McDonough, Yan Gong, Chintan V Dave, Victoria M Pratt, Tameka D Alestock, R David Anderson, Jorge Alsip, Amer K Ardati, Brigitta C Brott, Lawrence Brown, Supatat Chumnumwat, Michael J Clare-Salzler, James C Coons, Joshua C Denny, Chrisly Dillon, Amanda R Elsey, Issam S Hamadeh, Shuko Harada, William B Hillegass, Lindsay Hines, Richard B Horenstein, Lucius A Howell, Linda J B Jeng, Mark D Kelemen, Y M Lee, Oyunbileg Magvanjav, May Montasser, David R Nelson, Edith A Nutescu, Devon C Nwaba, Ruth E Pakyz, Kathleen Palmer, Josh F Peterson, Toni I Pollin, Alison H Quinn, Shawn W Robinson, Jamie Schub, Todd C Skaar, D Max Smith, Vindhya B Sriramoju, Petr Starostik, Tomasz P Stys, James M Stevenson, Nicholas Varunok, Mark R Vesely, Dyson T Wake, Karen E Weck, Kristin W Weitzel, Russell A Wilke, James Willig, Richard Y Zhao, Rolf P Kreutz, George A Stouffer, Philip E Empey, Nita A Limdi, Alan R Shuldiner, Almut G Winterstein, Julie A Johnson
OBJECTIVES: This multicenter pragmatic investigation assessed outcomes following clinical implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention (PCI). BACKGROUND: CYP2C19 loss-of-function alleles impair clopidogrel effectiveness after PCI. METHODS: After clinical genotyping, each institution recommended alternative antiplatelet therapy (prasugrel, ticagrelor) in PCI patients with a loss-of-function allele...
October 25, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29101917/troponin-testing-in-the-primary-care-setting
#10
Manuela S Mauro, Adam J Nelson, Michael B Stokes
BACKGROUND: Chest pain is a common presenting complaint in general practice. Serum troponin testing is an important clinical tool to help identify patients who present with suspected acute coronary syndrome (ACS). OBJECTIVE: This article will discuss the role of troponin testing in the diagnosis of ACS, and the role of high-sensitive troponin, which is now in widespread use. The importance of clinical acumen in the interpretation of troponin testing and the pitfalls of troponin testing in the primary care setting will also be explored...
November 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29092118/carcinoid-valve-disease-a-case-report-and-review
#11
Daniel Heikali, Nelson Chang, Ramin Tabibiazar
In patients with carcinoid syndrome, the development of carcinoid valve disease typically carries an unfavorable prognosis. We present the case of a patient with significant valvular dysfunction secondary to carcinoid valve disease. Valve replacement surgery was complicated by the development of prosthetic valve degeneration, ultimately requiring percutaneous valve implantation in a valve-in-valve fashion. The technical details of the case, as well as a review of carcinoid valve disease, including its pathophysiology, clinical manifestations, diagnostic features and management considerations, are presented...
May 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29079320/cognitive-dysfunction-associated-with-aluminum-hydroxide-induced-macrophagic-myofasciitis-a-reappraisal-of-neuropsychological-profile
#12
Mehdi Aoun Sebaiti, Paul Kauv, Anaïs Charles-Nelson, Axel Van Der Gucht, Paul Blanc-Durand, Emmanuel Itti, Romain K Gherardi, Anne-Catherine Bachoud-Levi, François Jérôme Authier
Patients with macrophagic myofasciitis (MMF) present with diffuse arthromyalgias, chronic fatigue, and cognitive disorder. Representative features of MMF-associated cognitive dysfunction include attentional dysfunction, dysexecutive syndrome, visual memory deficit and left ear extinction. Our study aims to reevaluate the neuropsychological profile of MMF. 105 unselected consecutive MMF patients were subjected to a neuropsychological battery of screen short term and long-term memory, executive functions, attentional abilities, instrumental functions and dichotic listening...
October 6, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/29077933/genomic-analysis-of-the-origins-and-evolution-of-multicentric-diffuse-lower-grade-gliomas
#13
Josie Hayes, Yao Yu, Llewellyn E Jalbert, Tali Mazor, Lindsey E Jones, Matthew D Wood, Kyle M Walsh, Henrik Bengtsson, Chibo Hong, Stefan Oberndorfer, Thomas Roetzer, Ivan V Smirnov, Jennifer L Clarke, Manish K Aghi, Susan M Chang, Sarah J Nelson, Adelheid Woehrer, Joanna J Phillips, David A Solomon, Joseph F Costello
Background: Rare multicentric lower-grade gliomas (LGG) represent a unique opportunity to study the heterogeneity between distinct tumor foci in a single patient, and to infer their origins and parallel patterns of evolution. Methods: In this study, we integrate clinical features, histology and immunohistochemistry for 4 patients with multicentric LGG, arising both synchronously and metachronously. For 3 patients we analyze the phylogeny of the lesions using exome sequencing, including one case with a total of 8 samples from the two lesions...
October 25, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29055257/efficacy-of-adjunctive-brexpiprazole-on-the-core-symptoms-of-major-depressive-disorder-a-post-hoc-analysis-of-two-pooled-clinical-studies
#14
J Craig Nelson, Emmanuelle Weiller, Peter Zhang, Catherine Weiss, Mary Hobart
BACKGROUND: Patients with major depressive disorder (MDD) who do not adequately respond to antidepressant treatment (ADT) may benefit from adjunctive atypical antipsychotics; however, certain agents target specific symptoms of depression and not the full syndrome. The aim of this analysis was to examine the effects of brexpiprazole, adjunct to ADT, on the core symptoms of MDD, defined using Montgomery-Åsberg Depression Rating Scale (MADRS) items. METHODS: This was a post hoc analysis of data from two 6-week, randomized, double-blind studies of adjunctive brexpiprazole in patients with MDD and inadequate response to ADTs (n = 1056)...
September 29, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29035085/lung-microbiota-is-related-to-smoking-status-and-to-development-of-ards-in-critically-ill-trauma-patients
#15
Ariane R Panzer, Susan V Lynch, Chaz Langelier, Jason D Christie, Kathryn McCauley, Mary Nelson, Christopher K Cheung, Neal L Benowitz, Mitchell J Cohen, Carolyn S Calfee
RATIONALE: Cigarette smoking is associated with increased risk of acute respiratory distress syndrome (ARDS) in patients following severe trauma; however, mechanisms underlying this association are unknown. OBJECTIVES: To determine whether cigarette smoking contributes to ARDS development following trauma by altering community composition of the lung microbiota Methods: We studied lung microbiota of mechanically ventilated patients admitted to the intensive care unit (ICU) following severe blunt trauma using 16S rRNA gene amplicon sequencing of endotracheal aspirate (ETA) samples obtained upon ICU admission (n=74) and at 48 hours post-admission (n=30)...
October 16, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29022901/bcr-abl1-induced-downregulation-of-wasp-in-chronic-myeloid-leukemia-involves-epigenetic-modification-and-contributes-to-malignancy
#16
Welbert O Pereira, Daniel D De Carvalho, Maria Emilia Zenteno, Beatriz F Ribeiro, Jacqueline F Jacysyn, Luiz R Sardinha, Maria A Zanichelli, Nelson Hamerschlak, Gareth E Jones, Katia B Pagnano, Fabiola A Castro, Yolanda Calle, Gustavo P Amarante-Mendes
Chronic myeloid leukemia (CML) is a myeloproliferative disease caused by the BCR-ABL1 tyrosine kinase (TK). The development of TK inhibitors (TKIs) revolutionized the treatment of CML patients. However, TKIs are not effective to those at advanced phases when amplified BCR-ABL1 levels and increased genomic instability lead to secondary oncogenic modifications. Wiskott-Aldrich syndrome protein (WASP) is an important regulator of signaling transduction in hematopoietic cells and was shown to be an endogenous inhibitor of the c-ABL TK...
October 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28988489/fatty-infiltration-of-the-minor-salivary-glands-is-a-selective-feature-of-aging-but-not-sj%C3%A3-gren-s-syndrome
#17
Kerry M Leehan, Nathan P Pezant, Astrid Rasmussen, Kiely Grundahl, Jacen S Moore, Lida Radfar, David M Lewis, Donald U Stone, Christopher J Lessard, Nelson L Rhodus, Barbara M Segal, C Erick Kaufman, R Hal Scofield, Kathy L Sivils, Courtney Montgomery, A Darise Farris
OBJECTIVE: Determine the presence and assess the extent of fatty infiltration of the minor salivary glands (SG) of primary SS patients (pSS) as compared to those with non-SS sicca (nSS). METHODS: Minor SG biopsy samples from 134 subjects with pSS (n = 72) or nSS (n = 62) were imaged. Total area and fatty replacement area for each glandular cross-section (n = 4-6 cross-sections per subject) were measured using Image J (National Institutes of Health, Bethesda, MD)...
October 8, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28984077/broad-clinical-high-risk-mental-state-charms-methodology-of-a-cohort-study-validating-criteria-for-pluripotent-risk
#18
Jessica A Hartmann, Barnaby Nelson, Rachael Spooner, G Paul Amminger, Andrew Chanen, Christopher G Davey, Meredith McHugh, Aswin Ratheesh, Devi Treen, Hok Pan Yuen, Patrick D McGorry
AIM: The development of the ultra-high risk (UHR) criteria for psychosis created a new paradigm for the prevention research in psychiatry. Since (1) prevention research faces the challenge of achieving adequate statistical power when focusing on single low-incidence syndromes and (2) early clinical phenotypes are overlapping and non-specific, this study broadens the UHR state beyond psychosis as an outcome. The CHARMS (clinical high at-risk mental state) study aims to prospectively validate a set of trans-diagnostic criteria to identify help-seeking young people at risk of developing a range of serious mental illnesses...
October 5, 2017: Early Intervention in Psychiatry
https://www.readbyqxmd.com/read/28982703/somatic-usp8-mutations-are-frequent-events-in-corticotroph-tumor-progression-causing-nelson-s-tumor
#19
Luis G Perez-Rivas, Marily Theodoropoulou, Troy H Puar, Julia Fazel, Mareike R Stieg, Francesco Ferrau, Guillaume Assie, Monica R Gadelha, Timo Deutschbein, Maria C Fragoso, Benno Kusters, Wolfgang Saeger, Juergen Honegger, Michael Buchfelder, Marta Korbonits, Jerome Bertherat, Gunter K Stalla, Ad Hermus, Felix Beuschlein, Martin Reincke
Objective Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are frequent in corticotroph tumors causing Cushing's disease. Corticotroph tumor progression, the so-called Nelson's syndrome, is a potentially life-threatening complication of bilateral adrenalectomy in patients with refractory Cushing's disease that is caused by the development of an ACTH-secreting tumor of the pituitary gland. Whether USP8 alterations are also present in progressive Nelson's tumors has not been studied in detail so far...
October 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28982177/adipose-derived-stem-cells-attenuate-pulmonary-microvascular-hyperpermeability-after-smoke-inhalation
#20
Koji Ihara, Satoshi Fukuda, Baigalmaa Enkhtaivan, Raul Trujillo, Dannelys Perez-Bello, Christina Nelson, Anita Randolph, Suzan Alharbi, Hira Hanif, David Herndon, Donald Prough, Perenlei Enkhbaatar
BACKGROUND: Pulmonary edema is a hallmark of acute respiratory distress syndrome (ARDS). Smoke inhalation causes ARDS, thus significantly increasing the mortality of burn patients. Adipose-derived stem cells (ASCs) exert potent anti-inflammatory properties. The goal of the present study was to test the safety and ecfficacy of ASCs, in a well-characterized clinically relevant ovine model of ARDS. METHODS: Female sheep were surgically prepared. ARDS was induced by cooled cotton smoke inhalation...
2017: PloS One
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