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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
#1
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/29151002/management-of-arrhythmia-in-sepsis-and-septic-shock
#2
Martin Balik, Vojtech Matousek, Michal Maly, Tomas Brozek
The occurrence of supraventricular arrhythmias is associated with an unfavourable prognosis in septic shock. Available trials are difficult to apply in sepsis and septic shock patients due to included cohorts, control groups and because "one size does not fit all". The priorities in the critically ill are maintenance of a sinus rhythm and diastolic ventricular filling. The rate control modality should be reserved for chronic AF and in situations when a sinus rhythm is difficult to maintain due to extreme stress conditions resulting from a high dosage of vasoactive agents...
November 18, 2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/29151001/intravenous-fluid-therapy-for-hospitalized-and-critically-ill-children-rationale-available-drugs-and-possible-side-effects
#3
Thomas Langer, Rosamaria Limuti, Concezione Tommasino, Niels van Regenmortel, Els L I M Duval, Pietro Caironi, Manu L N G Malbrain, Antonio Pesenti
Human beings are constituted mainly of water. In particular, children's total body water might reach 75-80% of their body weight, compared to 60-70% in adults. It is therefore not surprising, that children, especially hospitalized newborns and infants, are markedly prone to water and electrolyte imbalances. Parenteral fluid therapy is a cornerstone of medical treatment and is thus of exceptional relevance in this patient population. It is crucial to appreciate the fact that intravenous fluids are drugs with very different characteristics, different indications, contraindications and relevant side effects...
November 18, 2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/29151000/implementing-clinical-practice-changes-in-critical-care-lessons-learned-in-a-national-collaborative-of-over-60-icu-teams
#4
Ruth Kleinpell, Jerry J Zimmerman
Improving care in the intensive care unit (ICU) is a global area of focus for clinicians worldwide. The complexity of the ICU environment, compounded by multiple patient comorbidities and high acuity levels, makes the ICU a unique and challenging area of clinical practice. The essence of quality improvement - designing and implementing strategies to enhance care - fit well with the ICU setting. However, implementing clinical change is challenging, regardless of the clinical setting. A national collaborative targeting ICU settings was initiated which provided a number of lessons learned regarding implementing quality of care initiatives in critical care...
November 18, 2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/29150999/focus-on-focus-lack-of-coherence-between-systemic-and-microvascular-indices-of-edema-formation
#5
Birkitt Ten Tusscher, Corien Gudden, Suus van Vliet, Bob Smit, Can Ince, E Christiaan Boerma, Harm-Jan S de Grooth, Paul W G Elbers
BACKGROUND: Fluid therapy remains a cornerstone of therapy in shock states. However, fluid overloading ultimately results in edema formation which is related to excess morbidity and mortality. Handheld microscopes are now frequently used to study the sublingual microcirculation. As a corollary, these devices measure focal distance, or surface to capillary distance. Physiologically, this could represent a microvascular index of edema formation and could have the potential to guide fluid therapy...
November 18, 2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/29150876/toxicological-characterization-of-zno-nanoparticles-in-malignant-and-non-malignant-cells
#6
Helena Moratin, Agmal Scherzad, Thomas Gehrke, Pascal Ickrath, Katrin Radeloff, Norbert Kleinsasser, Stephan Hackenberg
The increasing usage of zinc oxide nanoparticles (ZnO-NPs) in industrial applications as well as in consumer products raises concern regarding their potential adverse effects to a greater extend. Numerous studies have demonstrated toxic properties of NPs, however there is still a lack of knowledge concerning the underlying mechanisms. This study was designed to systematically investigate cytotoxicity, apoptosis, cell cycle alterations, and genotoxicity induced by ZnO-NP. Moreover, it was an aim of the investigations to specify the diverse effects of nanoparticle exposure in malignant in comparison with non-malignant cells...
November 18, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29150872/predicting-the-onset-of-freezing-of-gait-a-longitudinal-study
#7
Kaylena A Ehgoetz Martens, Emily L Lukasik, Matthew J Georgiades, Moran Gilat, Julie M Hall, Courtney C Walton, Simon J G Lewis
BACKGROUND: Freezing of gait is a disabling symptom of Parkinson's disease that ultimately affects approximately 80% of patients, yet very little research has focused on predicting the onset of freezing of gait and tracking the longitudinal progression of symptoms prior to its onset. The objective of the current study was to examine longitudinal data spanning the transition period when patients with PD developed freezing of gait to identify symptoms that may precede freezing and create a prediction model that identifies those "at risk" for developing freezing of gait in the year to follow...
November 18, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29150719/preoperative-optimization-for-major-hepatic-resection
#8
REVIEW
Sarah Walcott-Sapp, Kevin G Billingsley
PURPOSE: Major hepatic resections are performed for primary hepatobiliary malignancies, metastatic disease, and benign lesions. Patients with chronic liver disease, including cirrhosis and steatosis, are at an elevated risk of malnutrition and impaired strength and exercise capacity, deficits which cause increased risk of postoperative complications and mortality. The aims of this report are to discuss the pathophysiology of changes in nutrition, exercise capacity, and muscle strength in patient populations likely to require major hepatectomy, and review recommendations for preoperative evaluation and optimization...
November 18, 2017: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/29150633/ketamine-s-antidepressant-effect-is-mediated-by-energy-metabolism-and-antioxidant-defense-system
#9
Katja Weckmann, Michael J Deery, Julie A Howard, Renata Feret, John M Asara, Frederik Dethloff, Michaela D Filiou, Jamie Iannace, Christiana Labermaier, Giuseppina Maccarrone, Christian Webhofer, Larysa Teplytska, Kathryn Lilley, Marianne B Müller, Christoph W Turck
Fewer than 50% of all patients with major depressive disorder (MDD) treated with currently available antidepressants (ADs) show full remission. Moreover, about one third of the patients suffering from MDD does not respond to conventional ADs and develop treatment-resistant depression (TRD). Ketamine, a non-competitive, voltage-dependent N-Methyl-D-aspartate receptor (NMDAR) antagonist, has been shown to have a rapid antidepressant effect, especially in patients suffering from TRD. Hippocampi of ketamine-treated mice were analysed by metabolome and proteome profiling to delineate ketamine treatment-affected molecular pathways and biosignatures...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150601/decoding-critical-long-non-coding-rna-in-ovarian-cancer-epithelial-to-mesenchymal-transition
#10
Ramkrishna Mitra, Xi Chen, Evan J Greenawalt, Ujjwal Maulik, Wei Jiang, Zhongming Zhao, Christine M Eischen
Long non-coding RNA (lncRNA) are emerging as contributors to malignancies. Little is understood about the contribution of lncRNA to epithelial-to-mesenchymal transition (EMT), which correlates with metastasis. Ovarian cancer is usually diagnosed after metastasis. Here we report an integrated analysis of >700 ovarian cancer molecular profiles, including genomic data sets, from four patient cohorts identifying lncRNA DNM3OS, MEG3, and MIAT overexpression and their reproducible gene regulation in ovarian cancer EMT...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29150490/gut-roundtable-meeting-paper-selected-recent-advances-in-hepatocellular-carcinoma
#11
REVIEW
Alexander Gerbes, Fabien Zoulim, Herbert Tilg, Jean-François Dufour, Jordi Bruix, Valérie Paradis, Riad Salem, Markus Peck-Radosavljevic, Peter R Galle, Tim F Greten, Jean-Charles Nault, Matias A Avila
Hepatocellular carcinoma (HCC) ranks number three among the most frequent causes of death from solid tumors worldwide. With obesity and fatty liver diseases as risk factors on the rise, HCC represents an ever increasing challenge. While there is still no curative treatment for most patients numerous novel drugs have been proposed, but most ultimately failed in phase III trials. This manuscript targets therapeutic advances and most burning issues. Expert key point summaries and urgent research agenda are provided regarding risk factors, including microbiota, need for prognostic and predictive biomarkers and the equivocal role of liver biopsy...
November 17, 2017: Gut
https://www.readbyqxmd.com/read/29150353/barrier-dysfunction-in-the-nasal-allergy
#12
REVIEW
Ayumi Fukuoka, Tomohiro Yoshimoto
Epithelial cells form the first physiological barrier against invasion by pathogens and the infiltration of allergens. Tight junctions (TJ), a cell-cell junctional complex located on the apical side of epithelial cells, have a critical role in the maintenance of epithelial barrier function. Impaired TJ structures are observed in patients with asthma, atopic dermatitis and nasal allergy; therefore, the dysfunction of epithelial barriers might be involved in the initiation or progression of allergic diseases...
November 14, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/29150043/synchronous-esophageal-and-lung-cancer
#13
REVIEW
Amar N Mukerji, Andrea Wolf
Synchronous lung and esophageal cancers are rare but represent a unique challenge to thoracic surgeons. The literature is limited but series describe long-term survival with curative surgery for concomitant esophageal and lung cancer. Preoperative risk assessment is critical because surgical resection of both cancers requires adequate cardiopulmonary function and performance status. Chemotherapy and radiation are used as adjuvant therapy or as primary treatment of unresectable lesions. Although long-term survival for patients with concomitant lung and esophageal cancer is lower than that of patients with either one alone, survival with curative surgery is higher than that of patients with metastatic disease of either primary...
February 2018: Thoracic Surgery Clinics
https://www.readbyqxmd.com/read/29149959/urinary-tissue-inhibitor-of-metalloproteinase-and-insulin-like-growth-factor-7-as-early-biomarkers-of-delayed-graft-function-after-kidney-transplantation
#14
J Yang, S Y Lim, M-G Kim, C-W Jung, W-Y Cho, S-K Jo
BACKGROUND: Recently, urinary tissue inhibitor of metalloproteinase-2 (TIMP-2) and insulin-like growth factor-7 (IGFBP-7), markers for G1 cell cycle arrest, have been identified and validated in predicting the development of acute kidney injury in critically ill patients. It is unknown, however, whether these two biomarkers could predict the development of delayed graft function (DGF) after kidney transplantation (KT). METHODS: This is a single-center, prospective, observational study...
November 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/29149943/endocrine-and-metabolic-alterations-in-sepsis-and-implications-for-treatment
#15
REVIEW
Catherine Ingels, Jan Gunst, Greet Van den Berghe
Sepsis induces profound neuroendocrine and metabolic alterations. During the acute phase, the neuroendocrine changes are directed toward restoration of homeostasis, and also limit unnecessary energy consumption in the setting of restricted nutrient availability. Such changes are probably adaptive. In patients not recovering quickly, a prolonged critically ill phase may ensue, with different neuroendocrine changes, which may represent a maladaptive response. Whether stress hyperglycemia should be aggressively treated or tolerated remains a matter of debate...
January 2018: Critical Care Clinics
https://www.readbyqxmd.com/read/29149925/gastrointestinal-and-hepatic-disease-in-systemic-lupus-erythematosus
#16
REVIEW
Brian N Brewer, Diane L Kamen
Gastrointestinal (GI) symptoms are common among patients with systemic lupus erythematosus (SLE), although only rarely are they caused by active organ system involvement from SLE itself. Rapid diagnosis and appropriate treatment of lupus enteritis and other GI manifestations of SLE are critical, because of the potential for organ and life-threatening complications. The 3 main variants of lupus enteritis are lupus mesenteric vasculitis, intestinal pseudo-obstruction, and protein-losing enteropathy. These GI manifestations and others in patients with SLE are reviewed here...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149864/kinetic-estimated-glomerular-filtration-rate-in-critically-ill-patients-beyond-the-acute-kidney-injury-severity-classification-system
#17
Flávio de Oliveira Marques, Saulo Aires Oliveira, Priscila Ferreira de Lima E Souza, Wandervânia Gomes Nojoza, Maiara da Silva Sena, Taynara Muniz Ferreira, Bruno Gabriele Costa, Alexandre Braga Libório
BACKGROUND: Although significant advances have been achieved in acute kidney injury (AKI) research following its classification, potential pitfalls can be identified in clinical practice. The nonsteady-state (kinetic) estimated glomerular filtration rate (KeGFR) could add clinical and prognostic information in critically ill patients beyond the current AKI classification system. METHODS: This was a retrospective analysis using data from the Multiparameter Intelligent Monitoring in Intensive Care II project...
November 18, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29149863/pearls-and-pitfalls-in-comprehensive-critical-care-echocardiography
#18
REVIEW
Sam Orde, Michel Slama, Andrew Hilton, Konstantin Yastrebov, Anthony McLean
Critical care echocardiography is developing rapidly with an increasing number of specialists now performing comprehensive studies using Doppler and other advanced techniques. However, this imaging can be challenging, interpretation is far from simple in the complex critically ill patient and mistakes can be easy to make. We aim to address clinically relevant areas where potential errors may occur and suggest methods to hopefully improve accuracy of imaging and interpretation.
November 17, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29149815/stroke-and-hypertension-an-appraisal-from-pathophysiology-to-clinical-practice
#19
Agata Buonacera, Benedetta Stancanelli, Lorenzo Malatino
Stroke as a cause of long-term disability is a growing public health burden. Therefore, focusing on prevention is important. The most prominent aim of this strategy is to treat modifiable risk factors, such as arterial hypertension, the leading modifiable contributor to stroke. Thus, efforts to adequately reduce blood pressure (BP) among hypertensives are mandatory. In this respect, although safety and benefits of BP control related to long-term outcome have been largely demonstrated, there are open questions that remain to be addressed, such as optimal timing to initiate BP reduction and BP goals to be targeted...
November 16, 2017: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/29149808/delayed-hypoxemia-following-traumatic-brain-injury-exacerbates-long-term-behavioral-deficits
#20
McKenzie Davies, Addison Jacobs, David L Brody, Stuart H Friess
Hypoxemia during initial stabilization of patients with severe traumatic brain injury (TBI) has been associated with poorer outcomes. However, the effects of delayed hypoxemia occurring during intensive care following TBI on outcome is unclear. Preclinical models of TBI have rarely shown cognitive or behavioral deficits beyond six weeks post injury and commonly have not included modeling of secondary insults. We have previously developed a murine model of TBI followed by delayed hypoxemia to model the secondary insult of hypoxemia and brain hypoxia occurring in the intensive care setting...
November 17, 2017: Journal of Neurotrauma
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