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Congenital structure abnormality

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https://www.readbyqxmd.com/read/27919989/teratogenic-effect-of-radotinib-case-report
#1
Juyoung Cheon, Jung Whan Ahn, Kyung Min Park, Guisera Lee, Yun Sung Jo
BACKGROUND: Simultaneous presentation of pregnancy and chronic myeloid leukemia (CML) is rare. Tyrosine kinase inhibitors (TKIs) are rarely used in pregnancy. There is almost no information on the effect of recently developed TKIs on the fetus. CASE REPORT: A 22-year-old woman became pregnant while using radotinib, a novel TKI for CML. She was concerned about the possible teratogenic effect of radotinib; hence the first pregnancy was terminated. The patient underwent full-term delivery at the second pregnancy...
December 2016: Anticancer Research
https://www.readbyqxmd.com/read/27907850/automated-annotation-and-quantitative-description-of-ultrasound-videos-of-the-fetal-heart
#2
Christopher P Bridge, Christos Ioannou, J Alison Noble
Interpretation of ultrasound videos of the fetal heart is crucial for the antenatal diagnosis of congenital heart disease (CHD). We believe that automated image analysis techniques could make an important contribution towards improving CHD detection rates. However, to our knowledge, no previous work has been done in this area. With this goal in mind, this paper presents a framework for tracking the key variables that describe the content of each frame of freehand 2D ultrasound scanning videos of the healthy fetal heart...
November 19, 2016: Medical Image Analysis
https://www.readbyqxmd.com/read/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#3
Clovis Nkoke, Edvine Yonta Wawo, Liliane Kuate Mfeukeu, Larissa Makamte, Sandrine Dikosso Edie, Flore Esiene Balana
Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27899160/physiopathology-of-vesico-ureteral-reflux
#4
REVIEW
Salvatore Arena, Roberta Iacona, Pietro Impellizzeri, Tiziana Russo, Lucia Marseglia, Eloisa Gitto, Carmelo Romeo
Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life.Refluxing ureteral endings show structural and functional anomalies: previous studies have shown a significant decrease in alfa actin, miosin and desmin contents as well as an high rate of atrophy and muscular degeneration with disorganized muscular fibres...
November 29, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27891421/imaging-modality-of-choice-for-pre-operative-cochlear-imaging-hrct-vs-mri-temporal-bone
#5
Poornima Digge, Rajendra N Solanki, Dipali C Shah, Rajesh Vishwakarma, Sandeep Kumar
INTRODUCTION: Congenital inner ear malformations occur as a result of the arrest or aberrance of inner ear development due to the heredity, gene mutation or other factors. Ever since the availability of cochlear implants, pre-operative evaluation by imaging of temporal bone has gained much attention. Precise selection of the candidate for cochlear implant dependent on preoperative radiological investigations. Only CT (Computed Tomography) and MRI (Magnetic Resonance Imaging) can provide a better picture of anatomy and pathology...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27886392/deregulated-expression-of-ezh2-in-congenital-brainstem-disconnection
#6
P G Barth, E Aronica, S Fox, K Fluiter, M A J Weterman, A Poretti, D C Miller, E Boltshauser, B Harding, M Santi, F Baas
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and the cerebellum is globally hypoplastic. A recent update and review[1] lists 14 cases, including 3 brain autopsy studies[1-3]. Necrosis and glial- or inflammatory reactions were absent. Inferior olivary nuclei were small or absent, pontine nuclei depleted, and the cerebellar dentate nuclei dysplastic...
November 25, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27876405/lower-urinary-tract-symptoms-in-children-and-adolescents-with-williams-beuren-syndrome
#7
Z M Sammour, J de Bessa, M Hisano, H Bruschini, C A Kim, M Srougi, C M Gomes
INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic condition caused by a microscopic deletion in the chromosome band 7q11.23. Individuals with WBS may present with congenital cardiovascular defects, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Lower urinary tract symptoms (LUTS) seem to be frequent in this population, but studies on this topic are scarce and based on small case series. OBJECTIVE: To systematically evaluate the prevalence of lower urinary tract symptoms (LUTS) and the acquisition of bladder control in a large population with WBS...
November 2, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27861502/abnormal-profiles-of-local-functional-connectivity-proximal-to-focal-cortical-dysplasias
#8
René M H Besseling, Jacobus F A Jansen, Anton J A de Louw, Mariëlle C G Vlooswijk, M Christianne Hoeberigs, Albert P Aldenkamp, Walter H Backes, Paul A M Hofman
INTRODUCTION: Focal cortical dysplasia (FCD) is a congenital malformation of cortical development that often leads to medically refractory epilepsy. Focal resection can be an effective treatment, but is challenging as the surgically relevant abnormality may exceed the MR-visible lesion. The aim of the current study is to develop methodology to characterize the profile of functional connectivity around FCDs using resting-state functional MRI and in the individual patient. The detection of aberrant connectivity may provide a means to more completely delineate the clinically relevant lesion...
2016: PloS One
https://www.readbyqxmd.com/read/27860551/congenital-variants-and-anomalies-of-the-aortic-arch
#9
Kate Hanneman, Beverley Newman, Frandics Chan
Congenital variants and anomalies of the aortic arch are important to recognize as they may be associated with vascular rings, congenital heart disease, and chromosomal abnormalities, and can have important implications for prognosis and management. The purpose of this article is to review cross-sectional imaging techniques used in the evaluation of the aortic arch, describe the embryology and anatomy of the aortic arch system, discuss aortic arch variants and anomalies, and review other malformations of the aortic arch, including interrupted aortic arch, hypoplastic aortic arch, and aortic coarctation...
November 18, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27860144/the-not-so-innocent-heart-murmur-a-five-year-experience
#10
Shaw-Hua Kueh, Thomas Pasley, Miriam Wheeler, James Pemberton
BACKGROUND: Auckland City Hospital (ACH) established a Heart Murmur Clinic (HMC) with the aim of providing prompt assessment of patients with asymptomatic systolic murmurs. This may lead to early intervention and improved outcomes if significant structural heart disease is detected and reassurance if no significant findings found. Similar clinics for children have proven beneficial; the benefit of a HMC in an adult population has been difficult to determine. OBJECTIVES: To review the clinical demographics and echocardiographic information of patients presenting to our HMC and to assess what proportion had significant structural heart disease and determine the common structural abnormalities in this population...
November 16, 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/27857788/ultrasonography-and-magnetic-resonance-imaging-evaluation-of-pediatric-spinal-anomalies
#11
Dhaval Durlabhbhai Dhingani, Deb Kumar Boruah, Hemonta Kumar Dutta, Rudra Kanta Gogoi
CONTEXT: Spinal dysraphisms are congenital abnormalities of the spine due to imperfect fusion of midline mesenchymal, bony and neural structures. Imaging plays a vital role in their evaluation as significant portion of patients may present with concurrent anomalies that need to be corrected simultaneously to avoid repeat surgeries. AIMS: The aims of the study were to evaluate Spinal dysraphisms using USG and MRI and to correlate imaging findings with operative findings in patients undergoing surgery...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27843470/childhood-neurogenic-stuttering-due-to-bilateral-congenital-abnormality-in-globus-pallidus-a-case-report-and-review-of-the-literature
#12
Mohammad Javad Saeedi, Ebrahim Esfandiary, Mostafa Almasi Dooghaee
Objective The basal ganglia are a group of structures that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex and thalamus. Some speech disorders such as stuttering can resulted from disturbances in the circuits between the basal ganglia and the language motor area of the cerebral cortex. Stuttering consists of blocks, repetitive, prolongation or cessation of speech. We present a 7.5 -year-old male child with bilateral basal ganglia lesion in globus pallidus with unclear reason...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27837354/congenital-cranial-dysinnervation-disorders
#13
REVIEW
Anupam Singh, P K Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana, Chirag Bahuguna
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility...
November 11, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27830886/anomalous-left-brachiocephalic-vein-important-vascular-anomaly-concomitant-with-congenital-anomalies-and-heart-diseases
#14
Shahram Kahkouee, Makan Sadr, Elham Pedarzadeh, Sara Fardin, Ali Borhani, Saeid Gholami, Ghazaleh Amjad
BACKGROUND: Anomalous left brachiocephalic vein (ALBCV) is a rare and less known systemic venous anomaly. Infrequently, this vein takes an abnormal course and passes to the right behind or beneath the aortic arch to create the superior vena cava (SVC). Its incidence was reported much higher in patients with congenital heart disease (CHD) especially in conotruncal and aortic arch anomalies. It could be misdiagnosed with normal or abnormal mediastinal structures. It also could make complication during surgeries or invasive strategies...
November 10, 2016: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/27814383/adult-gli2-gli3%C3%AE-699-male-and-female-mice-display-a-spectrum-of-genital-malformation
#15
Fei He, Pedram Akbari, Rong Mo, Jennifer J Zhang, Chi-Chung Hui, Peter C Kim, Walid A Farhat
Disorders of sexual development (DSD) encompass a broad spectrum of urogenital malformations and are amongst the most common congenital birth defects. Although key genetic factors such as the hedgehog (Hh) family have been identified, a unifying postnatally viable model displaying the spectrum of male and female urogenital malformations has not yet been reported. Since human cases are diagnosed and treated at various stages postnatally, equivalent mouse models enabling analysis at similar stages are of significant interest...
2016: PloS One
https://www.readbyqxmd.com/read/27812779/a-novel-mutation-in-exon-2-of-fgb-caused-by-c-221g-t-%C3%A2-substitution-predicting-the-replacement-of-the-native-arginine-at-position-74-with-a-leucine-p-arg74leu-%C3%A2-in-a-proband-from-a-kurdish-family-with-dysfibrinogenaemia-and-familial-venous-and-arterial-thrombosis
#16
Abdul A Shlebak, Alexia D Katsarou, George Adams, Fiona Fernando
Dysfibrinogenaemias may present in either congenital or acquired form and are disorders of fibrinogen structure which may or may not be associated with abnormal function. More than 100 point mutations with single amino acid substitutions have been identified in over 400 families. These lead to defective DNA in the translated fibrinogen molecule. Such cases have improved our understanding of the fibrinogen-fibrin structure. Six members of a consanguineous family including a female proband, a female sibling, three male siblings and a daughter, with ages between 29 years and 53 years presented with early onset venous and premature arterial thromboembolic disease were investigated for a pro-thrombotic tendency associated with dysfibrinogenaemia...
November 3, 2016: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/27795408/the-nonstructural-protein-nss-of-schmallenberg-virus-is-targeted-to-the-nucleolus-and-induces-nucleolar-disorganization
#17
Julie Gouzil, Aurore Fablet, Estelle Lara, Grégory Caignard, Marielle Cochet, Cindy Kundlacz, Massimo Palmarini, Mariana Varela, Emmanuel Breard, Corinne Sailleau, Cyril Viarouge, Muriel Coulpier, Stéphan Zientara, Damien Vitour
: Schmallenberg virus (SBV) was discovered in Germany in late 2011 and then spread rapidly to many European countries. SBV is an orthobunyavirus that causes abortion and congenital abnormalities in ruminants. A virus-encoded non-structural protein, termed NSs, is a major virulence factor of SBV and it is known to promote the degradation of Rpb1, a subunit of the RNA Pol II complex, and therefore hampers global cellular transcription. In this study we found that NSs is mainly localized in the nucleus of infected cells, and, specifically appears to target the nucleolus through a nucleolar localization signal (NoLS) localized between residues 33 and 51 of the protein...
October 19, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27790464/cytogenetic-analysis-for-suspected-chromosomal-abnormalities-a-five-years-experience
#18
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor
INTRODUCTION: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27786234/applications-of-3d-printing-in-cardiovascular-diseases
#19
REVIEW
Andreas A Giannopoulos, Dimitris Mitsouras, Shi-Joon Yoo, Peter P Liu, Yiannis S Chatzizisis, Frank J Rybicki
3D-printed models fabricated from CT, MRI, or echocardiography data provide the advantage of haptic feedback, direct manipulation, and enhanced understanding of cardiovascular anatomy and underlying pathologies. Reported applications of cardiovascular 3D printing span from diagnostic assistance and optimization of management algorithms in complex cardiovascular diseases, to planning and simulating surgical and interventional procedures. The technology has been used in practically the entire range of structural, valvular, and congenital heart diseases, and the added-value of 3D printing is established...
October 27, 2016: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/27774973/rare-combination-and-transcatheter-treatment-during-single-session-in-an-infant-patent-ductus-arteriosus-and-major-aortopulmonary-collateral-artery-concordance
#20
Osman Güvenç, Ender Ödemiş, Murat Saygı, İbrahim Halil Demir
Major aortopulmonary collateral arteries are abnormal vascular structures that may be seen in cyanotic diseases that progress with reduced pulmonary flow. They occur rather rarely in the absence of cyanotic congenital heart disease. Presently described is the case of an infant who underwent patent ductus arteriosus (PDA) and major aortopulmonary collateral artery occlusion in a single session, without presence of cyanotic congenital heart disease. To the best of our knowledge, this is the first case of congenital aortopulmonary collateral artery to be reported in a symptomatic infant with PDA...
October 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
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