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https://www.readbyqxmd.com/read/27905962/identifying-potential-differences-in-cause-of-death-coding-practices-across-russian-regions
#1
Inna Danilova, Vladimir M Shkolnikov, Dmitri A Jdanov, France Meslé, Jacques Vallin
BACKGROUND: Reliable and comparable data on causes of death are crucial for public health analysis, but the usefulness of these data can be markedly diminished when the approach to coding is not standardized across territories and/or over time. Because the Russian system of producing information on causes of death is highly decentralized, there may be discrepancies in the coding practices employed across the country. In this study, we evaluate the uniformity of cause-of-death coding practices across Russian regions using an indirect method...
March 22, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27904607/a-bilobed-testicle-diagnosed-with-ultrasound-in-an-18-year-old-boy
#2
Farzaneh Hekmatnia, Mohammad Momeni, Ali Hekmatnia, Mohammad Mehdi Baradaran Mahdavi
Bilobed testicle is a very rare congenital malformation with an unknown etiology. Herein, we report an 18-year-old boy presented with a right-bilobed testicle mimicking a testicular tumor. The present case highlights the importance of considering bilobed testicle as a valuable differential diagnosis of testicular mass to prevent unnecessary surgery. Furthermore, the case could provide more information about presentation and management of bilobed testicle.
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27903011/transition-risk-assessment-score-to-stratify-health-care-needs-and-interventions-in-adolescents-with-anorectal-malformations-a-pilot-study
#3
Martin J Connor, Laurie Rigueros Springford, Stefano Giuliani
Introduction Anorectal malformations (ARMs) are a complex collection of congenital disorders of the anus, rectum, and genitourinary system with possible active morbidities beyond adolescence. Aims To create the first evidence-based inclusive transition risk assessment score (TRAS) to stratify health care needs and interventions in teenagers with ARM transitioning to adult health care. Method MEDLINE, EMBASE, and the Cochrane Library were searched electronically for original articles containing published scoring systems evaluating children with ARM from January 1, 1990 to December 31, 2013...
November 30, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27902933/the-fda-approved-drug-sofosbuvir-inhibits-zika-virus-infection
#4
Kristen M Bullard-Feibelman, Jennifer Govero, Zhe Zhu, Vanessa Salazar, Milena Veselinovic, Michael S Diamond, Brian J Geiss
The rapidly expanding Zika virus (ZIKV) epidemic has affected thousands of individuals with severe cases causing Guillain-Barré syndrome, congenital malformations, and microcephaly. Currently, there is no available vaccine or therapy to prevent or treat ZIKV infection. We evaluated whether sofosbuvir, an FDA-approved nucleotide polymerase inhibitor for the distantly related hepatitis C virus, could have antiviral activity against ZIKV infection. Cell culture studies established that sofosbuvir efficiently inhibits replication and infection of several ZIKV strains in multiple human tumor cell lines and isolated human fetal-derived neuronal stem cells...
November 27, 2016: Antiviral Research
https://www.readbyqxmd.com/read/27899861/echocardiographic-follow-up-of-patent-foramen-ovale-and-the-factors-affecting-spontaneous-closure
#5
Ali Yildirim, Alperen Aydin, Tevfik Demir, Fatma Aydin, Birsen Ucar, Zubeyir Kilic
BACKGROUND: The aim of the present study was to evaluate the echocardiographic follow-up of patent foramen ovale, which is considered a potential etiological factor in various diseases, and to determine the factors affecting spontaneous closure. METHODS: Between January 2000 and June 2012, records of 918 patients with patent foramen ovale were retrospectively reviewed. Patency of less than 3 mm around the fossa ovalis is called patent foramen ovale. Patients with cyanotic congenital heart diseases, severe heart valve disorders and severe hemodynamic left to right shunts were excluded from the study...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899401/neonatal-and-childhood-neurodevelopmental-health-and-educational-outcomes-of-children-exposed-to-antidepressants-and-maternal-depression-during-pregnancy-protocol-for-a-retrospective-population-based-cohort-study-using-linked-administrative-data
#6
Deepa Singal, Marni Brownell, Dan Chateau, Chelsea Ruth, Laurence Y Katz
INTRODUCTION: Antidepressants are commonly prescribed during pregnancy; however, there are inconsistent data on the safety of these medications during the prenatal period. To address this gap, this study will investigate short-term and long-term neurodevelopmental, physical and mental health, and educational outcomes of children who have been exposed to selective serotonin reuptake inhibitors (SSRIs) or selective serotonin norepinephrine reuptake inhibitors (SNRIs) and/or maternal depression during pregnancy...
November 29, 2016: BMJ Open
https://www.readbyqxmd.com/read/27896474/worldwide-prevalence-of-adverse-pregnancy-outcomes-among-singleton-pregnancies-after-in-vitro-fertilization-intracytoplasmic-sperm-injection-a-systematic-review-and-meta-analysis
#7
REVIEW
Jia-Bi Qin, Xiao-Qi Sheng, Di Wu, Shi-You Gao, Yi-Ping You, Tu-Bao Yang, Hua Wang
PURPOSE: The worldwide prevalence of adverse pregnancy outcomes (APOs) in singleton pregnancies after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) is suggested to vary; however, a complete overview is missing. The aim of this review is to estimate the worldwide prevalence of APOs associated with IVF/ICSI singleton pregnancies. METHODS: PubMed, Google Scholar, Cochrane Libraries, and Chinese databases were searched for studies assessing APOs among IVF/ICSI singleton births through March 2016...
November 28, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#8
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#9
Hae Soo Joung, Alexandra Leon Guerrero, Sandra Tomita, Keith A Kuenzler
Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896163/varied-presentation-of-congenital-segmental-dilatation-of-the-intestine-in-neonates-report-of-three-cases
#10
Binod Kumar Rai, Bilal Mirza, Imran Hashim, Muhammad Saleem
Congenital segmental dilatation (CSD) of the intestine is a rare developmental anomaly characterized by sharply demarcated dilatation of a gastrointestinal segment and may present with intestinal obstruction. We report three cases of CSD of the intestine in neonates with varied presentation. First patient was mistaken as pneumoperitoneum on abdominal radiograph, which led to initial abdominal drain placement. The 2nd patient was a case of anorectal malformation associated with congenital pouch colon (CPC) and CSD of ileum; and the third case presented as neonatal intestinal obstruction and found to have CSD of ileum...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896158/congenital-duodenal-obstruction-in-neonates-over-13-years-experience-from-a-single-centre
#11
Parveen Kumar, Chiranjiv Kumar, Prince Raj Pandey, Yogesh Kumar Sarin
AIM: To study the prevalence of associated anomalies with neonatal duodenal obstruction and factors impacting short-term survival. MATERIAL AND METHODS: Records of 31 neonates with neonatal duodenal obstruction could be retrieved and analyzed for a 13.5-year-period (October 2003-May 2016). M:F ratio was 1.58:1. The mean birth weight was 2.15 kg; 12 patients were preterm. Etiologies included duodenal atresia (n=23), duodenal web (n=8) and malrotation of gut (n= 6)...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896151/alimentary-tract-atresias-associated-with-anorectal-malformations-10-years-experience
#12
Manoj Saha
Anorectal malformation (ARM) is one of the most common congenital anomaly that requires emergency surgery in the neonatal period. ARMs are frequently associated with other life threatening congenital anomalies. Commonly associated anomalies are genito-urinary, cardiovascular, gastro-intestinal, skeletal and spinal. Alimentary tract anomalies are frequently masked by the intestinal obstruction produced by the anorectal atresia. This retrospective study was carried out to find out the incidence of associated alimentary tract atresias with ARM...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#13
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895973/review-of-the-genetic-basis-of-jaw-malformations
#14
REVIEW
Mairaj K Ahmed, Xiaoqian Ye, Peter J Taub
Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895970/genetic-advances-in-microphthalmia
#15
REVIEW
Julie Plaisancie, Patrick Calvas, Nicolas Chassaing
Congenital ocular anomalies such as anophthalmia and microphthalmia (AM) are severe craniofacial malformations in human. The etiologies of these ocular globe anomalies are diverse but the genetic origin appears to be a predominant cause. Until recently, genetic diagnosis capability was rather limited in AM patients and only a few genes were available for routine genetic testing. While some issues remain poorly understood, knowledge regarding the molecular basis of AM dramatically improved over the last years with the development of new molecular screening technologies...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27894865/the-genetic-component-of-bicuspid-aortic-valve-and-aortic-dilation-an-exome-wide-association-study
#16
Marina Gago-Díaz, María Brion, Pastora Gallego, Francisco Calvo, Juan Robledo-Carmona, Daniel Saura, Violeta Sánchez, Javier Bermejo, Teresa Sevilla, Christopher Newton-Cheh, Ángel Carracedo, J Daniel Muehlschlegel, David García-Dorado, Simon C Body, Artur Evangelista
BACKGROUND: Bicuspid aortic valve is the most common cardiovascular congenital malformation affecting 2% of the general population. The incidence of life-threatening complications, the high heritability, and familial clustering rates support the interest in identifying risk or protective genetic factors. The main objective of the present study was to identify population-based genetic variation associated with bicuspid aortic valve and concomitant ascending aortic dilation. MATERIALS AND METHODS: A cross-sectional exome-wide association study was conducted in 565 Spanish cases and 484 controls...
November 25, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27894790/venous-malformations-of-the-head-and-neck-current-concepts-in-management
#17
REVIEW
C Fowell, C Verea Linares, R Jones, H Nishikawa, A Monaghan
Low-flow venous malformations are congenital lesions and they are the third most common vascular anomaly in the head and neck. In this paper, the third in a series of three educational reviews, we discuss current trends in their management, and include a summary of common sclerosant agents used in their control.
November 25, 2016: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/27891785/editorial-brain-malformation-surveillance-in-the-zika-era
#18
EDITORIAL
Edwin Trevathan
The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891421/imaging-modality-of-choice-for-pre-operative-cochlear-imaging-hrct-vs-mri-temporal-bone
#19
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/27891327/analysis-of-fetal-palate-to-assist-pre-natal-ultrasound
#20
Anjali Shastry, Yogitha Ravindranath, Roopa Ravindranath
INTRODUCTION: Cleft palate is one of the major facial congenital malformation in newborns. Pre-natal detection of this malformation is limited to detection of clefting of hard palate but isolated soft palate clefting still remains challenge for sonologists. As Indian literature is limited present study was attempted to provide dimensions and position of fetal palate by digitized images. AIM: To study dimensions, position and differences in parameters between second and third trimester fetuses...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
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