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https://www.readbyqxmd.com/read/29352772/neurotransmitters-and-receptors-changes-in-medial-nucleus-of-the-trapezoid-body-mntb-of-early-developmental-rats-with-single-side-deafness
#1
Jinsheng Dai, Jinfeng Liu, Mo Zhou, Wenjiao Wang, Zhi-Qing David Xu, Ningyu Wang
BACKGROUND Congenital single-side deafness (SSD) affects sound localization even after cochlear implantation (CI) in some conditions. The medial nucleus of the trapezoid body (MNTB) plays an important role in binaural benefit and sound localization, but little is known about intrinsic molecular changes in MNTB with SSD. We aimed to observe changes in MNTB in early-developmental SSD rats, including the key neurotransmitters (GABA, Gly, Glu) and major receptors (GABAa-R/GABAb-R for GABA, Gly-R for Gly, and AMPA/NMDA for Glu)...
January 20, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29352316/kansl1-variation-is-not-a-major-contributing-factor-in-self-limited-focal-epilepsy-syndromes-of-childhood
#2
Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. MATERIALS AND METHODS: We screened KANSL1 for single nucleotide variants in 90 patients with SFEC...
2018: PloS One
https://www.readbyqxmd.com/read/29352135/blocking-zika-virus-vertical-transmission
#3
Pinar Mesci, Angela Macia, Spencer M Moore, Sergey A Shiryaev, Antonella Pinto, Chun-Teng Huang, Leon Tejwani, Isabella R Fernandes, Nicole A Suarez, Matthew J Kolar, Sandro Montefusco, Scott C Rosenberg, Roberto H Herai, Fernanda R Cugola, Fabiele B Russo, Nicholas Sheets, Alan Saghatelian, Sujan Shresta, Jeremiah D Momper, Jair L Siqueira-Neto, Kevin D Corbett, Patricia C B Beltrão-Braga, Alexey V Terskikh, Alysson R Muotri
The outbreak of the Zika virus (ZIKV) has been associated with increased incidence of congenital malformations. Although recent efforts have focused on vaccine development, treatments for infected individuals are needed urgently. Sofosbuvir (SOF), an FDA-approved nucleotide analog inhibitor of the Hepatitis C (HCV) RNA-dependent RNA polymerase (RdRp) was recently shown to be protective against ZIKV both in vitro and in vivo. Here, we show that SOF protected human neural progenitor cells (NPC) and 3D neurospheres from ZIKV infection-mediated cell death and importantly restored the antiviral immune response in NPCs...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29352055/concomitant-conus-medullaris-arteriovenous-shunts-and-sacral-dural-arteriovenous-fistulas-pathophysiological-links-related-to-the-venous-drainage-of-the-lesions-in-a-series-of-five-cases
#4
Andrea Rosi, Arturo Consoli, Stéphanie Condette-Auliac, Oguzhan Coskun, Federico Di Maria, Georges Rodesch
BACKGROUND: Spinal cord arteriovenous shunts (scAVSs) are a group of lesions located in the spinal cord itself or in the surrounding structures. The most common scAVSs are spinal dural arteriovenous fistulas (sDAVFs), which are acquired lesions. The pathogenesis of sDAVFs involves thrombosis and venous hypertension as trigger factors. Intradural scAVSs such as spinal cord arteriovenous nidus type malformations (AVMs) and pial arteriovenous fistulas are less common than sDAVFs and are considered to have a so-called 'congenital' origin...
January 19, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29351919/high-yield-of-pathogenic-germline-mutations-causative-or-likely-causative-of-the-cancer-phenotype-in-selected-children-with-cancer
#5
Illja Diets, Esmé Waanders, Marjolijn J L Ligtenberg, Diede van Bladel, Eveline J Kamping, Peter M Hoogerbrugge, Saskia Hopman, Maran J W Olderode-Berends, Erica H Gerkes, David Koolen, Carlo Marcelis, Gijs We Santen, Martine van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto-van Silfhout, Thatjana Gardeitchik, E S J M de Bont, Jan Loeffen, Anja Wagner, Arjen R Mensenkamp, Roland P Kuiper, Nicoline Hoogerbrugge, Marjolijn Jongmans
PURPOSE: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole exome sequencing on a selected cohort of children with cancer. EXPERIMENTAL DESIGN: To identify mutations in known and novel cancer predisposing genes, we performed trio-based whole exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer or (4) an adult type of cancer...
January 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29351818/obstructive-sleep-apnea-in-patients-with-congenital-central-hypoventilation-syndrome-ventilated-by-diaphragm-pacing-without-tracheostomy
#6
Annie Wang, Sheila Kun, Bonnie Diep, Sally L Davidson Ward, Thomas G Keens, Iris A Perez
STUDY OBJECTIVES: To determine presence of obstructive sleep apnea (OSA) in patients with congenital central hypoventilation syndrome (CCHS) ventilated by diaphragm pacing (DP) without tracheostomy, and to determine if OSA can be improved by DP setting changes. METHODS: We reviewed polysomnography (PSG) results of 15 patients with CCHS from October 2001 to April 2014, age 15.4 ± 7.8 years, body mass index 22.0 ± 6.0 kg/m2, and 60% female. RESULTS: Of the 22 PSG results obtained for the 15 patients with CCHS, 9 were performed with tracheostomy capped, and 13 were performed after patients underwent decannulation...
January 16, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29351695/reasons-for-failure-of-systemic-to-pulmonary-artery-shunts-in-neonates
#7
Keti Vitanova, Cornelius Leopold, Jelena Pabst von Ohain, Cordula Wolf, Elisabeth Beran, Rüdiger Lange, Julie Cleuziou
BACKGROUND:  Systemic-to-pulmonary artery shunt placement is an established palliative procedure for congenital heart disease. Although it is thought to be a simple operation, it is associated with significant morbidity and mortality. METHODS:  Data for all neonates who underwent surgery for a systemic-to-pulmonary artery shunt between 2000 and 2016 were reviewed. The study endpoints were shunt failure and shunt-related mortality. Shunt failure was defined as a shunt dysfunction because of thrombosis or stenosis requiring intervention or reoperation; shunt mortality was defined as death because of a shunt dysfunction...
January 19, 2018: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/29351431/feasibility-of-phase-contrast-cine-magnetic-resonance-imaging-for-measuring-blood-flow-in-the-sheep-fetus
#8
An Qi Duan, Jack R T Darby, Jia Yin Soo, Mitchell C Lock, Meng Yuan Zhu, Lucy V Flynn, Sunthara Rajan Perumal, Christopher K Macgowan, Joseph B Selvanayagam, Janna L Morrison, Mike Seed
Phase-contrast cine MRI (PC-MRI) is the gold-standard non-invasive technique for measuring vessel blood flow and has previously been applied in the human fetal circulation. We aimed to assess the feasibility of using PC-MRI to define the distribution of the fetal circulation in sheep. Fetuses were catheterized at 119-120 days gestation (term, 150 days) and underwent MRI at 123 days gestation under isoflurane anesthesia, ventilated at a FiO2 of 1.0. PC-MRI was performed using a fetal arterial blood pressure catheter signal for cardiac triggering...
December 13, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29351346/the-congenital-heart-disease-genetic-network-study-cohort-description
#9
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014...
2018: PloS One
https://www.readbyqxmd.com/read/29351342/a-homozygous-missense-variant-in-vwa2-encoding-an-interactor-of-the-fraser-complex-in-a-patient-with-vesicoureteral-reflux
#10
Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes. To identify additional monogenic causes of CAKUT, we performed whole exome sequencing (WES) and homozygosity mapping (HM) in a patient with CAKUT from Indian origin and consanguineous descent. We identified a homozygous missense mutation (c...
2018: PloS One
https://www.readbyqxmd.com/read/29351114/sexual-and-reproductive-issues-and-inflammatory-bowel-disease-a-neglected-topic-in-men
#11
Mariangela Allocca, Daniela Gilardi, Gionata Fiorino, Federica Furfaro, Laurent Peyrin-Biroulet, Silvio Danese
There has been considerable literature on sexual issues in women with inflammatory bowel disease (IBD), but relatively little attention has been paid to these aspects in men. To review the available literature and to provide the best management of sexual and reproductive issues in male patients with IBD. The scientific literature on sexual and reproductive issues in men with IBD was reviewed. Several factors, including surgical and medication treatments, disease activity, lifestyle, and psychological factors, may play a role in the development of infertility and sexual dysfunction and may negatively impact pregnancy outcomes...
January 18, 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29351043/congenital-midline-upper-lip-sinuses-3-rare-cases
#12
Jean-Daniel Kün-Darbois, Anne Chatellier, Arnaud Paré, Aude Caillot, Béatrice Ambroise, Hervé Bénateau, Alexis Veyssière
Congenital sinuses of the upper lip are rare congenital malformations. There have been only 40 cases described in the literature. We report 3 cases of congenital midline upper lip sinus in Caucasian children. Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous cleft palate with bifid uvula). The pathophysiology remains unexplained yet. Congenital upper lip sinuses can be considered as possible microforms of cleft-lips. Associated anomalies are frequent and must be sought...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351040/respiratory-polysomnographic-findings-in-patients-treated-primarily-for-unilateral-cleft-lip-and-palate
#13
Davi Sandes Sobral, Gustavo Juliane Faller, Marcus Vinícius Martins Collares
Cleft lip and palate (CLP) is the most common congenital craniofacial abnormality. Obstructive sleep apnea syndrome (OSAS) is a highly prevalent but underdiagnosed disease and is frequently associated with craniofacial anomalies. There are few studies describing the sleep breathing pattern of children with CLP. This study sought to characterize the respiratory profile of 23 children with unilateral cleft lip and palate, aged 7-12 years, who had undergone cleft lip and nasal repair at age 3-4 months and palatoplasty at 12-15 months, with a particular focus on evaluating the presence of OSAS in children with CLP...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29350777/the-pathology-of-lumbosacral-lipomas-macroscopic-and-microscopic-disparity-have-implications-for-embryogenesis-and-mode-of-clinical-deterioration
#14
Victoria Jones, Victoria Wykes, Nicki Cohen, Dominic Thompson, Thomas S Jacques
AIMS: Lumbosacral lipomas (LSL) are congenital disorders of the terminal spinal cord region that have the potential to cause significant spinal cord dysfunction in children. They are of unknown embryogenesis with variable clinical presentation and natural history. It is unclear whether the spinal cord dysfunction reflects a primary developmental dysplasia or whether it occurs secondarily to mechanical traction (spinal cord tethering) with growth. Whilst different anatomical subtypes are recognised and classified according to radiological criteria, these subtypes correlate poorly with clinical prognosis...
January 19, 2018: Histopathology
https://www.readbyqxmd.com/read/29350636/imaging-of-pediatric-foot-disorders
#15
Alfonso Reginelli, Anna Russo, Fabrizio Turrizziani, Roberto Picascia, Elisa Micheletti, Vittoria Galeazzi, Umberto Russo, Assunta Sica, Fabrizio Cioce, Alberto Aliprandi, Andrea Giovagnoni, Salvatore Cappabianca
Infants and children undergo imaging studies to evaluate a wide variety of congenital and acquired disorders. Imaging protocols have to consider the patient's comfort, level of anxiety, and smaller size. The first imaging study is usually made with plain radiographs. The routine radiographic examination of the foot includes the anteroposterior (AP), lateral, and oblique projections. Magnetic Resonance Imaging (RMI) provides excellent anatomic detail of cartilage, vasculature and soft tissue thanks to superior soft tissue contrast and spatial resolution, so is valuable in many cases...
January 19, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29350490/chronic-exposure-to-high-doses-of-selenium-in-the-first-trimester-of-pregnancy-case-report-and-brief-literature-review
#16
Luisa D'Oria, Massimo Apicella, Carmen De Luca, Angelo Licameli, Caterina Neri, Marcella Pellegrino, Daniela Simeone, Marco De Santis
BACKGROUND: Obstetricians usually prescribe supplements during pregnancy without actual indication. The use of selenium during pregnancy has increased, due to its function in several antioxidant mechanisms. CASE: A pregnant woman received 200,000 micrograms (μg) per day of a selenium galenic formulation, since gestational week (g.w.) 7 to 12, due to a prescription error. The patient experienced nausea, vomiting, hand and foot paresthesia, followed by fatigue, loss of fingernails and hair...
January 19, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29350246/data-driven-quality-improvement-project-to-increase-the-value-of-the-congenital-echocardiographic-report
#17
Pei-Ni Jone, Ruthanne Gould, Cindy Barrett, Adel K Younoszai, Brian Fonseca
Echocardiography is the primary diagnostic modality for congenital heart disease patients. The written report is used to communicate with the care team and organization is often divided into the body with detailed findings and the conclusions with important findings summarized. Strategies to increase workflow efficiency include batch writing of reports after performance of multiple echocardiograms and the use of report templates which may contribute to discrepancies within report leading to potential downstream medical errors...
January 19, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29349860/effects-of-maternal-anthropometrics-on-pregnancy-outcomes-in-south-asian-women-a-systematic-review
#18
REVIEW
E Slack, J Rankin, D Jones, N Heslehurst
AIM: This systematic review investigates associations between maternal pre-pregnancy/early-pregnancy anthropometrics (e.g. weight and body fat), anthropometric change and pregnancy outcomes in South Asian and White women. METHODS: Twelve electronic literature databases, reference lists and citations of all included studies were searched. Observational studies published in the English language were included. Descriptive synthesis was used to summarize the evidence base...
January 19, 2018: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29349638/innovation-in-3d-echocardiographic-imaging
#19
REVIEW
Pei-Ni Jone, Nee Khoo
PURPOSE OF REVIEW: The purpose of this review is to detail three-dimensional echocardiographic (3DE) innovations in pre-surgical planning of congenital heart disease, guidance of catheter interventions such as fusion imaging, and functional assessment of patients with congenital heart disease. RECENT FINDINGS: Innovations in 3DE have helped us delineate the details of atrioventricular valve function and understand the mechanism of atrioventricular valve failure in patients with atrioventricular septal defect and single ventricle post repair...
January 19, 2018: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29349523/prognostic-factors-of-pediatric-glaucoma-a-retrospective-study
#20
Marilita M Moschos, Eirini Nitoda, Isabelle Fenzel, Xuefei Song, Achim Langenbucher, Barbara Kaesmann, Berthold Seitz, Zisis Gatzioufas
PURPOSE: To correlate the features of certain types of infantile glaucoma with the progression and the prognosis of the disease, highlighting probable risk factors. METHODS: Seventy-six patients with pediatric glaucoma were recruited in this retrospective study. All patients underwent ophthalmological examination in the Department of Ophthalmology of the Saarland University Medical Center from January 2001 to December 2012. Our pediatric patients were classified into four different categories of glaucoma: (1) primary congenital glaucoma (presenting buphthalmus), (2) aniridia-related glaucoma, (3) Peters/Rieger's anomaly-related glaucoma and (4) congenital cataract-related glaucoma...
January 18, 2018: International Ophthalmology
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