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https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#1
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28508806/telemonitoring-and-medical-care-of-heart-failure-patients-supported-by-left-ventricular-assist-devices-the-medolution-project
#2
Nils Reiss, Thomas Schmidt, Frerk Müller-von Aschwege, Wolfgang Thronicke, Jan-Dirk Hoffmann, Jenny Inge Röbesaat, Ezin Deniz, Andreas Hein, Heiko Krumm, Franz-Josef Stewing, Detlev Willemsen, Jan Dieter Schmitto, Christina Feldmann
Long-term survival after left ventricular assist device (LVAD) implantation in heart failure patients is mainly determined by a sophisticated after-care. Ambulatory visits only take place every 12 weeks. In case of life-threatening complications (pump thrombosis, driveline infection) this might lead to delayed diagnosis and delayed intervention. It is the intention of the international project Medolution (Medical care evolution) to develop new approaches in order to create best structures for telemonitoring of LVAD patients...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28506086/invasive-cardiopulmonary-exercise-testing-in-the-evaluation-of-unexplained-dyspnea-insights-from-a-multidisciplinary-dyspnea-center
#3
Wei Huang, Stephen Resch, Rudolf Kf Oliveira, Barbara A Cockrill, David M Systrom, Aaron B Waxman
Background Unexplained dyspnea is a common diagnosis that often results in repeated diagnostic testing and even delayed treatments while a determination of the cause is being investigated. Through a retrospective study, we evaluated the diagnostic efficacy of a multidisciplinary dyspnea evaluation center (MDEC) using invasive cardiopulmonary exercise test to diagnose potential causes of unexplained dyspnea. Methods We reviewed the medical records of all patients referred with unexplained dyspnea to the MDEC between March 2011 and October 2014...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28496411/calf-compression-sleeves-change-biomechanics-but-not-performance-and-physiological-responses-in-trail-running
#4
Hugo A Kerhervé, Pierre Samozino, Fabrice Descombe, Matthieu Pinay, Guillaume Y Millet, Marion Pasqualini, Thomas Rupp
Introduction: The aim of this study was to determine whether calf compression sleeves (CS) affects physiological and biomechanical parameters, exercise performance, and perceived sensations of muscle fatigue, pain and soreness during prolonged (~2 h 30 min) outdoor trail running. Methods: Fourteen healthy trained males took part in a randomized, cross-over study consisting in two identical 24-km trail running sessions (each including one bout of running at constant rate on moderately flat terrain, and one period of all-out running on hilly terrain) wearing either degressive CS (23 ± 2 mmHg) or control sleeves (CON, <4 mmHg)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28489279/dipeptidyl-peptidase-dpp-4-inhibitors-and-glucagon-like-peptide-glp-1-analogues-for-prevention-or-delay-of-type-2-diabetes-mellitus-and-its-associated-complications-in-people-at-increased-risk-for-the-development-of-type-2-diabetes-mellitus
#5
REVIEW
Bianca Hemmingsen, David P Sonne, Maria-Inti Metzendorf, Bernd Richter
BACKGROUND: The projected rise in the incidence of type 2 diabetes mellitus (T2DM) could develop into a substantial health problem worldwide. Whether dipeptidyl-peptidase (DPP)-4 inhibitors or glucagon-like peptide (GLP)-1 analogues are able to prevent or delay T2DM and its associated complications in people at risk for the development of T2DM is unknown. OBJECTIVES: To assess the effects of DPP-4 inhibitors and GLP-1 analogues on the prevention or delay of T2DM and its associated complications in people with impaired glucose tolerance, impaired fasting blood glucose, moderately elevated glycosylated haemoglobin A1c (HbA1c) or any combination of these...
May 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28483153/vascular-endothelial-growth-factor-prevents-endothelial-to-mesenchymal-transition-in%C3%A2-hypertrophy
#6
Ben M-W Illigens, Alejandra Casar Berazaluce, Dimitrios Poutias, Robert Gasser, Pedro J Del Nido, Ingeborg Friehs
BACKGROUND: In hypertrophy, progressive loss of function caused by impaired diastolic compliance correlates with advancing cardiac fibrosis. Endothelial cells contribute to this process through endothelial-to-mesenchymal transition (EndMT) resulting from inductive signals such as transforming growth factor (TGF-β). Vascular endothelial growth factor (VEGF) has proven effective in preserving systolic function and delaying the onset of failure. In this study, we hypothesize that VEGF inhibits EndMT and prevents cardiac fibrosis, thereby preserving diastolic function...
May 5, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28449044/vernakalant-does-not-alter-early-repolarization-or-contractility-in-normal-and-electrically-remodelled-atria
#7
Arne van Hunnik, Hussein Nasrallah, Dennis H Lau, Marion Kuiper, Sander Verheule, Ulrich Schotten
Aims: Besides the inhibition of the sodium inward current, vernakalant also inhibits the ultra rapid rectifier (IKur) and transient outward current (Ito). Inhibition of these currents increases contractility in canine atrial myocytes and goat atria. We investigated the effect of vernakalant on early repolarization and contractility in normal and electrically remodelled atria. Methods and results: Goats were implanted a pressure catheter, piezoelectric crystals, and electrodes to obtain atrial contractility and effective refractory period (ERP)...
April 25, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28443680/periodic-breathing-during-incremental-exercise
#8
Piergiuseppe Agostoni, Ugo Corrà, Michele Emdin
Periodic breathing during incremental cardiopulmonary exercise testing is a regularly recurring waxing and waning of tidal volume due to oscillations in central respiratory drive. Periodic breathing is a sign of respiratory control system instability, which may occur at rest or during exercise. The possible mechanisms responsible of exertional periodic breathing might be related to any instability of the ventilatory regulation caused by: 1) increased circulatory delay (i.e., circulation time from the lung to the brain and chemoreceptors, due to reduced cardiac index leading to delay in information transfer), 2) increase in controller gain (i...
April 26, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28404197/mercaptopurine-versus-placebo-to-prevent-recurrence-of-crohn-s-disease-after-surgical-resection-toppic-a-multicentre-double-blind-randomised-controlled-trial
#9
Craig Mowat, Ian Arnott, Aiden Cahill, Malcolm Smith, Tariq Ahmad, Sreedhar Subramanian, Simon Travis, John Morris, John Hamlin, Anjan Dhar, Chuka Nwokolo, Cathryn Edwards, Tom Creed, Stuart Bloom, Mohamed Yousif, Linzi Thomas, Simon Campbell, Stephen J Lewis, Shaji Sebastian, Sandip Sen, Simon Lal, Chris Hawkey, Charles Murray, Fraser Cummings, Jason Goh, James O Lindsay, Naila Arebi, Lindsay Potts, Aileen J McKinley, John M Thomson, John A Todd, Mhairi Collie, Malcolm G Dunlop, Ashley Mowat, Daniel R Gaya, Jack Winter, Graham D Naismith, Holly Ennis, Catriona Keerie, Steff Lewis, Robin J Prescott, Nicholas A Kennedy, Jack Satsangi
BACKGROUND: Up to 60% of patients with Crohn's disease need intestinal resection within the first 10 years of diagnosis, and postoperative recurrence is common. We investigated whether mercaptopurine can prevent or delay postoperative clinical recurrence of Crohn's disease. METHODS: We did a randomised, placebo-controlled, double-blind trial at 29 UK secondary and tertiary hospitals of patients (aged >16 years in Scotland or >18 years in England and Wales) who had a confirmed diagnosis of Crohn's disease and had undergone intestinal resection...
December 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28388782/high-intensity-intermittent-exercise-and-autonomic-modulation-effects-of-different-volume-sessions
#10
Carlos Iván Mesa Castrillón, Rodolfo Augusto Travagin Miranda, Carolina Cabral-Santos, Lais Manata Vanzella, Bruno Rodrigues, Luiz Carlos Marques Vanderlei, Fábio Santos Lira, Eduardo Zapaterra Campos
The aim of this study was to compare heart rate variability (HRV) recovery after 2 sessions of high-intensity intermittent exercise at different volumes (1.25 km [HIIE1.25] and 2.5 km [HIIE2.5]). 13 participants determined their maximal aerobic speed (MAS) and completed 2 HIIE (1:1 at 100% MAS) trials. The heart rate was recorded before and after each session. HRV indicators were calculated according to time (RMSSD and SDNN) and frequency (LF, HF and LF/HF ratio) domains. SDNN and RMSSD presented effect of test (F=20...
April 7, 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/28385091/early-postoperative-physical-therapy-for-improving-short-term-gross-motor-outcome-in-infants-with-cyanotic-and-acyanotic-congenital-heart-disease
#11
Sumihito Haseba, Harutoshi Sakakima, Syuhei Nakao, Misaki Ohira, Shigefumi Yanagi, Yutaka Imoto, Akira Yoshida, Megumi Shimodozono
PURPOSE: We analysed the gross motor recovery of infants and toddlers with cyanotic and acyanotic congenital heart disease (CHD) who received early postoperative physical therapy to see whether there was any difference in the duration to recovery. METHODS: This study retrospectively evaluated the influence of early physical therapy on postoperative gross motor outcomes of patients with CHD. The gross motor ability of patients with cyanotic (n = 25, average age: 376...
April 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28371864/a-multicentre-study-of-patients-with-timothy-syndrome
#12
Mark A Walsh, Christian Turner, Katherine W Timothy, Neil Seller, Dominic L Hares, Andrew F James, Jules C Hancox, Orhan Uzun, Dean Boyce, Alan G Stuart, Paul Brennan, Caroline Sarton, Karen McGuire, Ruth A Newbury-Ecob, Karen Mcleod
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study...
March 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28367010/prehospital-delay-and-time-to-reperfusion-therapy-in-st-elevation-myocardial-infarction
#13
Linsha George, Lakshmi Ramamoorthy, Santhosh Satheesh, Rama Prakasha Saya, D K S Subrahmanyam
BACKGROUND: Despite efforts aimed at reducing the prehospital delay and treatment delay, a considerable proportion of patients with ST elevation myocardial infarction (STEMI) present late and receive the reperfusion therapy after unacceptably long time periods. This study aimed at finding out the patients' decision delay, prehospital delay, door-to-electrocardiography (ECG), door-to-needle, and door-to-primary percutaneous coronary intervention (PCI) times and their determinants among STEMI patients...
April 2017: Journal of Emergencies, Trauma, and Shock
https://www.readbyqxmd.com/read/28351386/midwife-led-maternity-care-in-ireland-a-retrospective-cohort-study
#14
Anna Dencker, Valerie Smith, Colette McCann, Cecily Begley
BACKGROUND: Midwife-led maternity care is shown to be safe for women with low-risk during pregnancy. In Ireland, two midwife-led units (MLUs) were introduced in 2004 when a randomised controlled trial (the MidU study) was performed to compare MLU care with consultant-led care (CLU). Following study completion the two MLUs have remained as a maternity care option in Ireland. The aim of this study was to evaluate maternal and neonatal outcomes and transfer rates during six years in the larger of the MLU sites...
March 28, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#15
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
#16
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...
2017: Chronobiology International
https://www.readbyqxmd.com/read/28244277/atypical-physiological-orienting-to-direct-gaze-in-low-functioning-children-with-autism-spectrum-disorder
#17
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...
May 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
#18
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
#19
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
#20
REVIEW
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
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