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https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#1
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28276854/activity-sleep-and-ambient-light-have-a-different-impact-on-circadian-blood-pressure-heart-rate-and-body-temperature-rhythms
#2
D G Gubin, D Weinert, S V Rybina, L A Danilova, S V Solovieva, A M Durov, N Y Prokopiev, P A Ushakov
The aim of the present study was to investigate the impact of endogenous and exogenous factors for the expression of the daily rhythms of body temperature (BT), blood pressure (BP) and heart rate (HR). One hundred and seventy-three young adults (YA), 17-24 years old (y.o.), of both genders were studied under a modified constant-routine (CR) protocol for 26 h. Participants were assigned randomly to groups with different lighting regimens: CR-LD, n = 77, lights (>400 l×) on from 09:00 to 17:00 h and off (<10 l×) from 17:00 to 09:00 next morning; CR-LL, n = 81, lights on (>400 l×) during the whole experimental session; CR-DD, n = 15, constant dim light (<10 l×) during the whole experiment...
February 16, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28244277/atypical-physiological-orienting-to-direct-gaze-in-low-functioning-children-with-autism-spectrum-disorder
#3
Terhi M Helminen, Jukka M Leppänen, Kai Eriksson, Arto Luoma, Jari K Hietanen, Anneli Kylliäinen
Reduced use of eye contact is a prominent feature in individuals with autism spectrum disorder (ASD). It has been proposed that direct gaze does not capture the attention of individuals with ASD. Experimental evidence is, however, mainly restricted to relatively high-functioning school-aged children or adults with ASD. This study investigated whether 2-5-year-old low-functioning children with severe ASD differ from control children in orienting to gaze stimuli, as measured with the heart rate deceleration response...
February 28, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28228609/barriers-associated-with-door-to-balloon-delay-in-contemporary-japanese-practice
#4
Nobuhiro Ikemura, Mitsuaki Sawano, Yasuyuki Shiraishi, Ikuko Ueda, Hiroaki Miyata, Yohei Numasawa, Shigetaka Noma, Masahiro Suzuki, Yukihiko Momiyama, Taku Inohara, Kentaro Hayashida, Shinsuke Yuasa, Yuichiro Maekawa, Keiichi Fukuda, Shun Kohsaka
BACKGROUND: Door-to-balloon (DTB) time ≤90 min is an important quality indicator in the management of ST-elevation myocardial infarction (STEMI), but a considerable number of patients still do not meet this goal, particularly in countries outside the USA and Europe.Methods and Results:We analyzed 2,428 STEMI patients who underwent primary PCI ≤12 h of symptom onset who were registered in an ongoing prospective multicenter database (JCD-KiCS registry), between 2008 and 2013. We analyzed both the time trend in DTB time within this cohort in the registry, and independent predictors of delayed DTB time >90 min...
February 23, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28228314/pre-hospital-acute-coronary-syndrome-care-in-kerala-india-a-qualitative-analysis
#5
Amisha Patel, P P Mohanan, Dorairaj Prabhakaran, Mark D Huffman
OBJECTIVE: Ischemic heart disease is the leading cause of death in India. Many of these deaths are due to acute coronary syndromes (ACS), which require prompt symptom recognition, care-seeking behavior, and transport to a treatment facility in the critical pre-hospital period. In India, little is known about pre-hospital management of individuals with ACS. We aim to understand the facilitators, barriers, and context of optimal pre-hospital ACS care to provide opportunities to reduce pre-hospital delays and improve acute cardiovascular care...
January 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28219580/use-of-anti-thymocyte-globulin-for-induction-therapy-in-cardiac-transplantation-a-review
#6
V Ruan, L S C Czer, M Awad, M Kittleson, J Patel, F Arabia, F Esmailian, D Ramzy, J Chung, M De Robertis, A Trento, J A Kobashigawa
The most common causes of death after heart transplantation (HTx) include acute rejection and multi-organ failure in the early period and malignancy and cardiac allograft vasculopathy (CAV) in the late period. Polyclonal antibody preparations such as rabbit anti-thymocyte globulin (ATG) may reduce early acute rejection and the later occurrence of CAV after HTx. ATG therapy depletes T cells, modulates adhesion and cell-signaling molecules, interferes with dendritic cell function, and induces B-cell apoptosis and regulatory and natural killer T-cell expansion...
March 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#7
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28208759/acute-effects-of-particulate-air-pollution-on-ischemic-heart-disease-hospitalizations-in-shanghai-china
#8
Anyang Xu, Zhe Mu, Bo Jiang, Wei Wang, Han Yu, Lijuan Zhang, Jue Li
Background: Air pollution has been demonstrated to be a major risk factor for the development of cardiovascular and respiratory diseases worldwide. This study examines the relationship between the exposure to fine particulate matter (PM) and patient hospitalizations as a result of ischemic heart disease (IHD) during 2013-2014 in Shanghai, China. Methods: Daily IHD hospitalization data were acquired from the Shanghai Health Insurance Bureau (SHIB) from 1 January 2013 to 21 December 2014. Daily average concentrations of air pollution as well as meteorological data were obtained from the database of Shanghai Environmental Monitoring Center (SEMC) during the same time period, and all data were analyzed using standard epidemiological methodology...
February 9, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28197748/a-pilot-study-on-the-effects-of-slow-paced-breathing-on-current-food-craving
#9
Adrian Meule, Andrea Kübler
Heart rate variability biofeedback (HRV-BF) involves slow paced breathing (approximately six breaths per minute), thereby maximizing low-frequent heart rate oscillations and baroreflex gain. Mounting evidence suggests that HRV-BF promotes symptom reductions in a variety of physical and mental disorders. It may also positively affect eating behavior by reducing food cravings. The aim of the current study was to investigate if slow paced breathing can be useful for attenuating momentary food craving. Female students performed paced breathing either at six breaths per minute (n = 32) or at nine breaths per minute (n = 33) while watching their favorite food on the computer screen...
March 2017: Applied Psychophysiology and Biofeedback
https://www.readbyqxmd.com/read/28194611/using-three-dimensional-echocardiography-to-guide-left-ventricle-lead-position-in-cardiac-resynchronization-therapy-does-it-make-any-difference
#10
Haitham A Badran, John Z Kamel, Tarek R Mohamed, Mohamed A Abdelhamid
BACKGROUND: Cardiac resynchronization therapy (CRT) is an effective treatment for patients with advanced heart failure. Nearly 30% of candidates are inadequate responders. Proper patient selection, left ventricle (LV) lead placement optimization, and optimization of the programming of the CRT device are important approaches to improve outcome of CRT. We examined the role of three-dimensional (3D) echocardiography in determining the optimal LV lead position as a method of optimizing CRT response...
February 13, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/28183324/identification-of-taz-mutations-in-pediatric-patients-with-cardiomyopathy-by-targeted-next-generation-sequencing-in-a-chinese-cohort
#11
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28173809/fast-time-varying-linear-filters-for-suppression-of-baseline-drift-in-electrocardiographic-signals
#12
Jiří Kozumplík, Ivo Provazník
BACKGROUND: The paper presents a method of linear time-varying filtering, with extremely low computational costs, for the suppression of baseline drift in electrocardiographic (ECG) signals. An ECG signal is not periodic as the length of its heart cycles vary. In order to optimally suppress baseline drift by the use of a linear filter, we need a high-pass filter with time-varying cut-off frequency controlled by instant heart rate. METHODS: Realization of the high-pass (HP) filter is based on a narrow-band low-pass (LP) filter of which output is subtracted from the delayed input...
February 7, 2017: Biomedical Engineering Online
https://www.readbyqxmd.com/read/28144157/the-correlation-between-preoperative-erythrocyte-sedimentation-rate-and-postoperative-outcome-in-adult-cardiac-surgery
#13
Eissa Bilehjani, Solmaz Fakhari, Haleh Farzin, Alireza Yaghoubi, Moussa Mirinazhad, Kamran Shadvar, Abbasali Dehghani, Pariasadat Aboalaiy
INTRODUCTION: Over the past decades, it has been recommended that preoperative assessment mainly relies on history and physical examination rather than unnecessary laboratory tests. In Iranian hospitals, erythrocyte sedimentation rate (ESR) has been routinely measured in most of the patients awaiting major surgery, which has in turn exacted heavy costs on the health system. Therefore, the aim of the present study was to assess the preoperative routine measurement of ESR in such patients...
2017: International Journal of General Medicine
https://www.readbyqxmd.com/read/28140353/basic-cardiovascular-variability-signals-mutual-directed-interactions-explored-in-the-information-domain
#14
Michal Javorka, Jana Krohova, Barbora Czippelova, Zuzana Turianikova, Zuzana Lazarova, Kamil Javorka, Luca Faes
The study of short-term cardiovascular interactions is classically performed through the bivariate analysis of the interactions between the beat-to-beat variability of heart period (RR interval from the ECG) and systolic blood pressure (SBP). Recent progress in the development of multivariate time series analysis methods is making it possible to explore how directed interactions between two signals change in the context of networks including other coupled signals. Exploiting these advances, the present study aims at assessing directional cardiovascular interactions among the basic variability signals of RR, SBP and diastolic blood pressure (DBP), using an approach which allows direct comparison between bivariate and multivariate coupling measures...
January 31, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28123084/thermal-manipulation-during-pre-and-post-hatch-on-thermotolerance-of-male-broiler-chickens-exposed-to-chronic-heat-stress
#15
Gholam-Reza Zaboli, Shaban Rahimi, Farid Shariatmadari, Mohammad Amir Karimi Torshizi, Ali Baghbanzadeh, Mehran Mehri
The aim of this study was to evaluate the effects of thermal manipulation (TM) during pre and post-hatch periods on thermotolerance of male broiler chickens exposed to chronic heat stress (CHS) during the finisher phase (34 ± 2°C, 6 h/day). Seven hundred fertile eggs of Ross 308 were assigned to the following groups: 1) control group incubated and housed in standard conditions, 2) pre-hatch treatment (PRE), the eggs were exposed to 39.5°C and 65% RH for 12 h, d from embryonic d 7 to 16 and after hatching the chicks where housed in standard conditions; 3 and 4) post-hatch TM at d 3 (PO3) and post-hatch TM at d 5 (PO5), which had the same incubation conditions as control and exposed to 36 to 38°C for 24 h at 3 and 5 days of age, respectively...
February 1, 2017: Poultry Science
https://www.readbyqxmd.com/read/28099640/cardiopulmonary-resuscitation-of-adults-with-in-hospital-cardiac-arrest-using-the-utstein-style
#16
Rose Mary Ferreira Lisboa da Silva, Bruna Adriene Gomes de Lima E Silva, Fábio Junior Modesto E Silva, Carlos Faria Santos Amaral
Objective: The objective of this study was to analyze the clinical profile of patients with in-hospital cardiac arrest using the Utstein style. Methods: This study is an observational, prospective, longitudinal study of patients with cardiac arrest treated in intensive care units over a period of 1 year. Results: The study included 89 patients who underwent cardiopulmonary resuscitation maneuvers. The cohort was 51.6% male with a mean age 59...
October 2016: Revista Brasileira de Terapia Intensiva
https://www.readbyqxmd.com/read/28096098/avoiding-untimely-implantable-cardioverter-defibrillator-implantation-by-intensified-heart-failure-therapy-optimization-supported-by-the-wearable-cardioverter-defibrillator-the-prolong-study
#17
David Duncker, Thorben König, Stephan Hohmann, Johann Bauersachs, Christian Veltmann
BACKGROUND: Optimal timing of implantation of an implantable cardioverter/defibrillator (ICD) after newly diagnosed heart failure is unclear given that late reverse remodelling may occur. We aimed to analyze left ventricular ejection fraction (LVEF) after diagnosis of an LVEF ≤35% during optimization of heart failure drug therapy. METHODS AND RESULTS: One hundred fifty-six patients with newly diagnosed LVEF ≤35% receiving a wearable cardioverter/defibrillator (WCD) were analyzed...
January 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28069009/multi-center-randomized-placebo-controlled-trial-of-nocturnal-oxygen-therapy-in-chronic-obstructive-pulmonary-disease-a-study-protocol-for-the-inox-trial
#18
Yves Lacasse, Sarah Bernard, Frédéric Sériès, Van Hung Nguyen, Jean Bourbeau, Shawn Aaron, François Maltais
BACKGROUND: Long-term oxygen therapy (LTOT) is the only component of the management of chronic obstructive pulmonary disease (COPD) that improves survival in patients with severe daytime hypoxemia. LTOT is usually provided by a stationary oxygen concentrator and is recommended to be used for at least 15-18 h a day. Several studies have demonstrated a deterioration in arterial blood gas pressures and oxygen saturation during sleep in patients with COPD, even in those not qualifying for LTOT...
January 9, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28018896/factors-influencing-neurodevelopment-after-cardiac-surgery-during-infancy
#19
REVIEW
Hedwig Hubertine Hövels-Gürich
Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). CPB operations to ensure intraoperative vital organ perfusion and oxygen supply with or without circulatory arrest or regional cerebral perfusion bear specific risks...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28012220/heart-rate-variability-analysis-during-immediate-recovery-from-exercise-in-overweight-obese-healthy-young-adult-females
#20
Sahar M El Agaty, Azra Kirmani, Ezaz Labban
BACKGROUND: Data on heart rate variability (HRV) changes during immediate recovery period after exercise in overweight/obese healthy young adult females are still inconclusive. The aim of this study was to evaluate the heart rate variability (HRV), heart rate recovery (HRR), and arterial blood pressure immediately after cessation of exercise in overweight/obese healthy young adult females. METHODS: This study was carried out in the laboratory of the Physiology Department, Faculty of Medicine, King Abdulaziz University...
December 24, 2016: Annals of Noninvasive Electrocardiology
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