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https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#1
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29691755/my-patient-has-received-fluid-how-to-assess-its-efficacy-and-side-effects
#2
REVIEW
Xavier Monnet, Jean-Louis Teboul
Many efforts have been made to predict, before giving fluid, whether it will increase cardiac output. Nevertheless, after fluid administration, it is also essential to assess the therapeutic efficacy and to look for possible adverse effects. Like for any drug, this step should not be missed. Basically, volume expansion is aimed at improving tissue oxygenation and organ function. To assess this final result, clinical signs are often unhelpful. The increase in urine output in case of acute kidney injury is a poor marker of the kidney perfusion improvement...
April 24, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29691705/retinal-dysfunction-in-a-presymptomatic-patient-with-huntington-s-disease
#3
Jonelle Knapp, Dean A VanNasdale, Keith Ramsey, Julie Racine
PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD...
April 24, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29691457/metabolic-and-cardiac-adaptation-to-chronic-pharmacologic-blockade-of-facilitative-glucose-transport-in-murine-dilated-cardiomyopathy-and-myocardial-ischemia
#4
Monique R Heitmeier, Maria A Payne, Carla Weinheimer, Attila Kovacs, Richard C Hresko, Patrick Y Jay, Paul W Hruz
GLUT transgenic and knockout mice have provided valuable insight into the role of facilitative glucose transporters (GLUTs) in cardiovascular and metabolic disease, but compensatory physiological changes can hinder interpretation of these models. To determine whether adaptations occur in response to GLUT inhibition in the failing adult heart, we chronically treated TG9 mice, a transgenic model of dilated cardiomyopathy and heart failure, with the GLUT inhibitor ritonavir. Glucose tolerance was significantly improved with chronic treatment and correlated with decreased adipose tissue retinol binding protein 4 (RBP4) and resistin...
April 24, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29691067/point-of-care-ultrasound-identifies-urinoma-complicating-simple-renal-colic-a-case-series-and-literature-review
#5
Christopher Thom, Matthew Eisenstat, James Moak
BACKGROUND: Renal colic is a frequently encountered diagnosis among emergency department patients. Point-of-care (POC) ultrasound has taken on an increasingly important role in the diagnostic strategy of this disease, as it has been shown to be an effective modality for diagnosis and for guiding management. The primary pathology that the emergency physician will evaluate for in cases of suspected renal colic is hydronephrosis, which is a dilatation of the renal pelvis and calyces resulting from a distal obstruction such as a ureteral stone...
April 21, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29690966/effects-of-lower-limb-cycle-training-on-echocardiographic-parameters-of-left-ventricle-in-dilated-cardiomyopathy-patients
#6
Mehwish Waseem, Naveed Yaqoob, Muhammad Iqbal Tariq, Muhammad Qasim Raza, Imran Amjad
OBJECTIVE: To determine the effect of lower limb ergometric training on echocardiographic parameters of left ventricle in dilated cardiomyopathy (DMC) patients. STUDY DESIGN: Randomized control trial. PLACE AND DURATION OF STUDY: Rawalpindi Institute of Cardiology, Rawalpindi, Pakistan, from September 2016 to February 2017. METHODOLOGY: Clinically stable patients with DCM (n=60), were randomly allocated into an interventional group with two-month interventional program and a non-trained control group (n=30 each)...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29690886/loss-of-alpha-smooth-muscle-actin-expression-associated-with-chronic-intestinal-pseudo-obstruction-in-a-young-miniature-bull-terrier
#7
Gian Enrico Magi, Francesca Mariotti, Sara Berardi, Andrea Piccinini, Cecilia Vullo, Angela Palumbo Piccionello, Giacomo Rossi
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a rare clinical syndrome in veterinary medicine characterized by severe intestinal dysmotility without evidence of mechanical occlusion of the intestinal lumen. The exact pathogenesis of CIPO is unknown. CASE PRESENTATION: A 1-year-old male Miniature Bull Terrier dog was presented with a history of chronic weight loss, regurgitation, lethargy, vomiting and diarrhea. The dog was submitted for exploratory laparotomy...
April 24, 2018: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/29690317/a-new-species-of-genus-eulimnadia-packard-1874-branchiopoda-spinicaudata-limnadiidae-from-india-with-an-updated-key-for-some-indian-species
#8
Sameer M Padhye, Nicolas Rabet, Mihir R Kulkarni, Marco Pagni
We describe a new species of Eulimnadia, Eulimnadia bondi sp. nov., from the state of Goa, India. This is the 8th species to be described from the country and first from this state. This species differs from all other Indian species in having unique egg morphology-cylindrical egg with dilated borders at both ends and a specific internal eggshell structure. Specimens showed intra-population morphological variation as observed in other species from the genus. Eulimnadia bondi sp. nov. egg resembles the South American E...
March 21, 2018: Zootaxa
https://www.readbyqxmd.com/read/29689792/a-new-species-of-puddle-frog-genus-phrynobatrachus-amphibia-anura-phrynobatrachidae-from-ghana
#9
Caleb Ofori-Boateng, Adam D LeachÉ, Bright Obeng-Kankam, N'goran Germain KouamÉ, Annika Hillers, Mark-Oliver RÖdel
We describe a new species of Phrynobatrachus from the eastern part of the Upper Guinea forest region, Ghana, West Africa. Morphologically, the new species can be distinguished from all of its congeners by the combination of a slender body, short and pointed snout, a relatively warty dorsum, a black-spotted throat in both sexes, a gular flap in males, a dark spotted chest, a white-greyish venter with occasional blackish spots, rudimentary pedal webbing, none to slightly dilated finger tips and strongly delated toe tips, presence of both inner and outer metatarsal tubercles and absence of a dark face mask, eyelid tubercles and longer dorsal ridges...
January 21, 2018: Zootaxa
https://www.readbyqxmd.com/read/29689580/normal-cervical-effacement-in-term-labor
#10
Janine S Rhoades, Molly J Stout, Candice Woolfolk, Methodius G Tuuli, George A Macones, Alison G Cahill
OBJECTIVE:  To estimate the natural history of cervical effacement in labor. STUDY DESIGN:  This is a retrospective cohort study of term, vertex, singletons who reached 10 cm of cervical dilation from 2010 to 2014. Interval-censored regression was used to estimate the median number of hours between changes in effacement (measured in centimeters of the residual cervix) and to estimate the median effacement at a given cervical dilation. Analysis was stratified by parity and labor type...
April 24, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29689578/peripartum-morbidity-after-cesarean-delivery-for-arrest-of-dilation-at-4-to-5-cm-compared-with-6-to-10-cm
#11
Joshua D Dahlke, Jeffrey D Sperling, Phinnara Has, Todd R Lovgren, Brendan D Connealy, Dwight J Rouse
OBJECTIVE:  Given that recent consensus guidelines established to decrease cesarean delivery (CD) rates use 6 cm to define the onset of the active phase of labor, our objective was to evaluate maternal and neonatal outcomes after CD for the indication of arrest of dilation at 4 to 5 cm compared with ≥ 6 cm. STUDY DESIGN:  We performed a secondary analysis using data from the Maternal Fetal-Medicine Units Network Cesarean Registry. We included nulliparous women with term, singleton, vertex gestations who underwent primary CD for arrest of dilation...
April 24, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29689347/regulation-of-cardiovascular-development-and-homeostasis-by-the-adrenomedullin-ramp-system
#12
Takayuki Shindo, Megumu Tanaka, Akiko Kamiyoshi, Yuka Ichikawa-Shindo, Hisaka Kawate, Akihiro Yamauchi, Takayuki Sakurai
Adrenomedullin (AM), a member of the calcitonin peptide superfamily, is a peptide involved in both the pathogenesis of cardiovascular diseases and circulatory homeostasis. Its receptor, calcitonin receptor-like receptor (CLR), associates with an accessory protein, receptor activity-modifying protein (RAMP). Depending upon which the three RAMP isoforms (RAMP1-3) it interacts with, CLR functions as a receptor for AM or other calcitonin family peptides. AM knockout mice (-/-) died mid-gestation due to abnormalities in vascular development...
April 21, 2018: Peptides
https://www.readbyqxmd.com/read/29688826/randomized-controlled-trial-examining-the-effects-of-balloon-catheter-dilation-on-sinus-pressure-barometric-headaches
#13
Adrienne M Laury, Philip G Chen, Kevin C McMains
Objective To determine if balloon catheter dilation of sinus ostia affects the severity or frequency of headache among patients who have barometric pressure-related "sinus" headache. Study Design Prospective single-blinded randomized controlled trial. Setting Tertiary care medical center. Subjects and Methods Subjects with a diagnosis of sinus pressure headache without evidence of mucosal thickening on computed tomography were recruited. Subjects were blinded and randomized to undergo balloon dilation of affected sinus ostia (active treatment) or balloon dilation in the nasal cavity (placebo)...
April 1, 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29688625/the-use-of-intensity-based-doppler-variance-method-for-single-vessel-response-to-functional-neurovascular-activation
#14
Wen-Chuan Kuo, Yue-Ming Kuo, Jia-Pu Syu, Han-Lin Wang, Chi-Ming Lai, Jia-Wei Chen, Yu-Chun Lo, You-Yin Chen
This study presents one use of optical coherence tomography angiography (OCT) technique to examine neurovascular coupling effect. Repeated B-scans OCT recording is performed on the rat somatosensory cortex with cranial window preparation while its contra-lateral forepaw is electrically stimulated to activate the neurons in rest. We use an intensity-based Doppler variance (IBDV) algorithm mapped cerebral blood vessels in the cortex, and the temporal alteration in blood perfusion during neurovascular activation is analyzed using the proposed IBDV quantitative parameters...
April 24, 2018: Journal of Biophotonics
https://www.readbyqxmd.com/read/29688395/arterial-stiffening-and-arterial-dilation-as-heritable-traits-caused-by-defective-vital-rubber
#15
Christopher S Hayward, Audrey Adji, Michael F O'Rourke
No abstract text is available yet for this article.
April 24, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29688206/-exoprosthetic-repair-of-the-ascending-portion-of-the-aorta-midterm-results
#16
A M Cherniavskiĭ, D A Sirota, M M Liashenko, S A Al'sov, D S Khvan
The authors analyse herein their experience gained in performing the operation of exoprosthetic repair of the ascending portion of the aorta in patients presenting with an ascending aortic aneurysm. This is followed by assessing the results in the remote period. Over the period of follow up from 2012 to 2016 a total of 23 interventions were performed. The average duration of postoperative follow up amounted to 27±9.4 (2-40) months. In the remote period we managed to obtain the data for 20 (90.1%) patients...
2018: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/29688201/-detralex-phlebosclerosing-treatment-results-of-the-national-multicenter-follow-up-programme-vein-act-prolonged-c1
#17
V Iu Bogachev, B V Boldin, P Iu Turkin
Presented herein are the results of the observational follow up study programme dedicated to the assessment of appropriate use of adjuvant therapy with Detralex while carrying out phlebosclerosing treatment in patients suffering from dilated intradermal veins (clinical class C1 according to the CEAP classification). A conclusion was drawn that administration of Detralex for 60 days decreased the incidence rate of typical undesirable side events after phlebosclerosing therapy, thus making the use of this drug appropriate in routine clinical practice...
2018: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/29688190/-present-day-possibilities-of-non-invasive-control-over-microcirculation-and-metabolism-in-man
#18
A A Fedorovich, A G Bagdasarian, I G Uchkin, G N Soboleva, S A Boĭtsov
The main function of the microcirculatory bed consists in maintaining tissue homeostasis at an optimal level irrespective of the effect of various external and internal factors. Of all types of metabolism (diffusive, filtration-reabsorption and vesicular), directly dependent on the haemodynamic parameters is filtration-reabsorption metabolism which provides exchange of water, low-molecular-weight and water-soluble substances at the opposite to the heart «pole» of the cardiovascular system. The present study was aimed at testing a hypothesis that activation of metabolic processes in man would be accompanied by alterations in haemodynamic parameters which may be registered by means of modern non-invasive methods of examination, i...
2018: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/29688175/implantation-techniques-pre-dilatation-sizing-and-post-dilatation-and-the-incidence-of-scaffold-thrombosis-and-revascularization-in-lesions-treated-with-an-everolimus-eluting-bioresorbable-vascular-scaffold-insights-from-the-aida-trial
#19
Ruben Yannick G Tijssen, Robin P Kraak, Joelle Elias, Ivo M van Dongen, Deborah Nancy Kalkman, Martina Nassif, Yohei Sotomi, Taku Asano, Yuki Katagiri, Carlos Collet, Jan J Piek, Jose P S Henriques, Robbert J de Winter, Jan G Tijssen, Yoshinobu Onuma, Patrick W Serruys, Joanna J Wykrzykowska
AIMS: Absorb bioresorbable vascular scaffold (Absorb BVS) specific implantation strategies have been proposed to optimize outcomes. We analyzed whether the occurrence of definite scaffold thrombosis (ScT) and target lesion revascularization (TLR) in Absorb-treated AIDA patients was influenced by scaffold implantation techniques. METHODS AND RESULTS: Absorb BVS implantation in 1074 lesions was graded according to definitions of optimal implantation based on pre-dilatation, sizing, and post-dilatation (PSP)...
April 24, 2018: EuroIntervention
https://www.readbyqxmd.com/read/29687908/hepatopulmonary-disorders-gas-exchange-and-vascular-manifestations-in-chronic-liver-disease
#20
Robert Rodríguez-Roisin, Michael J Krowka, Alvar Agustí
This review concentrates on the determinants of gas exchange abnormalities in liver-induced pulmonary vascular disorders, more specifically in the hepatopulmonary syndrome. Increased alveolar-arterial O2 difference, with or without different levels of arterial hypoxemia, and reduced diffusing capacity represent the most characteristic gas exchange disturbances in the absence of cardiac and pulmonary comorbidities. Pulmonary gas exchange abnormalities in the hepatopulmonary syndrome are unique encompassing all three pulmonary factors determining arterial PO2 , that is, ventilation-perfusion imbalance, increased intrapulmonary shunt and oxygen diffusion limitation that, combined, interplay with two relevant nonpulmonary determinants, that is, increased total ventilation and high cardiac output...
March 25, 2018: Comprehensive Physiology
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