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https://www.readbyqxmd.com/read/28222150/polymorphisms-and-features-of-cytomegalovirus-ul144-and-ul146-in-congenitally-infected-neonates-with-hepatic-involvement
#1
Gangqiang Guo, Liang Zhang, Sisi Ye, Yingying Hu, Baoqing Li, Xiangwei Sun, Chenchen Mao, Jianfeng Xu, Yiping Chen, Lifang Zhang, Xiangyang Xue
Human cytomegalovirus is a significant agent of hepatic involvement in neonates. In this study, we investigated the polymorphisms and features of the viral genes UL144 and UL146 as well as their significance to congenital hepatic involvement. In 79 neonates with congenital cytomegalovirus infection and hepatic involvement, full length UL144 and UL146 were successfully amplified in 73.42% and 60.76% of cases, respectively. Sequencing indicated that both genes were hypervariable. Notably, UL144 genotype B was highly associated with aspartate aminotransferase (P = 0...
2017: PloS One
https://www.readbyqxmd.com/read/28221991/detecting-clinically-meaningful-shape-clusters-in-medical-image-data-metrics-analysis-for-hierarchical-clustering-applied-to-healthy-and-pathological-aortic-arches
#2
Jan L Bruse, Maria A Zuluaga, Abbas Khushnood, Kristin McLeod, Hopewell N Ntsinjana, Tain-Yen Hsia, Maxime Sermesant, Xavier Pennec, Andrew M Taylor, Silvia Schievano
OBJECTIVE: Today's growing medical image databases call for novel processing tools to structure the bulk of data and extract clinically relevant information. Unsupervised hierarchical clustering may reveal clusters within anatomical shape data of patient populations as required for modern Precision Medicine strategies. Few studies have applied hierarchical clustering techniques to three-dimensional patient shape data and results depend heavily on the chosen clustering distance metrics and linkage functions...
February 16, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28221712/discovery-of-myh14-as-an-important-and-unique-deafness-gene-causing-prelingually-severe-autosomal-dominant-non-syndromic-hearing-loss
#3
Bong Jik Kim, Ah Reum Kim, Jin Hee Han, Chung Lee, Doo Yi Oh, Byung Yoon Choi
BACKGROUND: Pathogenic variants of MYH14 have been known to be associated-in either a syndromic or non-syndromic manner-with hearing loss. Interestingly, all reported cases to date of MYH14-related non-syndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset. METHODS: In this study, targeted resequencing (TRS) of known deafness genes was performed to identify the causative variant in two multiplex families segregating AD inherited hearing loss...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#4
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221310/colq-related-congenital-myasthenic-syndrome-and-response-to-salbutamol-therapy
#5
Hansashree Padmanabha, Arushi G Saini, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221305/a-novel-missense-variant-in-the-agrn-gene-congenital-myasthenic-syndrome-presenting-with-head-drop
#6
Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H Beggs, Haluk Topaloglu
Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. We report a 17-month-old boy with dropped head and limb-girdle weakness, who had no ptosis or ophthalmoplegia at presentation...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221263/use-of-model-based-iterative-reconstruction-to-improve-detection-of-congenital-cardiovascular-anomalies-in-infants-undergoing-free-breathing-computed-tomographic-angiography
#7
Seth Kligerman, Ferdia Bolster, Jason Mitchell, Travis Henry, Jean Jeudy, Charles S White
PURPOSE: The aim of the study was to assess the detection of congenital cardiovascular anomalies (congenital heart disease) in neonates and infants using model-based iterative reconstruction (MBIR) algorithm compared with hybrid iterative reconstruction (HIR) and filtered back projection (FBP) reconstructions on axial computed tomography (CT) performed at minimum scanner dose. MATERIALS AND METHODS: Over 1 year, all CT angiographies performed in infants below 3 months of age with congenital heart disease were assessed retrospectively...
March 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28220786/intrauterine-zika-virus-infection-of-pregnant-immunocompetent-mice-models-transplacental-transmission-and-adverse-perinatal-outcomes
#8
Meghan S Vermillion, Jun Lei, Yahya Shabi, Victoria K Baxter, Nathan P Crilly, Michael McLane, Diane E Griffin, Andrew Pekosz, Sabra L Klein, Irina Burd
Zika virus (ZIKV) crosses the placenta and causes congenital disease. Here we develop an animal model utilizing direct ZIKV inoculation into the uterine wall of pregnant, immunocompetent mice to evaluate transplacental transmission. Intrauterine inoculation at embryonic day (E) 10, but not E14, with African, Asian or American strains of ZIKV reduces fetal viability and increases infection of placental and fetal tissues. ZIKV inoculation at E10 causes placental inflammation, placental dysfunction and reduces neonatal brain cortical thickness, which is associated with increased activation of microglia...
February 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#9
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28220267/chimpanzee-down-syndrome-a-case-study-of-trisomy-22-in-a-captive-chimpanzee
#10
Satoshi Hirata, Hirohisa Hirai, Etsuko Nogami, Naruki Morimura, Toshifumi Udono
We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee...
February 21, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28220085/peripheral-visual-reaction-time-is-faster-in-deaf-adults-and-british-sign-language-interpreters-than-in-hearing-adults
#11
Charlotte J Codina, Olivier Pascalis, Heidi A Baseler, Alexandra T Levine, David Buckley
Following auditory deprivation, the remaining sense of vision has shown selective enhancement in visual cognition, especially in the area of near peripheral vision. Visual acuity is poor in the far periphery and may be an area where sound confers the greatest advantage in hearing persons. Experience with a visuospatial language such as British Sign Language (BSL) makes additional demands on the visual system. To test the different and separable effects of deafness and use of a visuo-spatial language on far peripheral visual processing, we investigated visual reaction times (RTs) and response accuracy to visual stimuli, between 30° and 85° along the four cardinal and four inter-cardinal meridians...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28219832/the-role-of-single-nucleotide-polymorphisms-contained-in-proinflammatory-cytokine-genes-in-the-development-of-congenital-infection-with-human-cytomegalovirus-in-fetuses-and-neonates
#12
Wioletta Wujcicka, Jan Wilczyński, Dorota Nowakowska
PURPOSE: The research project targeted the distribution of genotypes, alleles and haplotypes in single nucleotide polymorphisms (SNPs) within the interleukin (IL) 1A, IL1B, IL6, IL12B and TNFA genes, in fetuses and neonates, congenitally infected with human cytomegalovirus (HCMV), and among uninfected controls. METHODS: The study included 20 fetuses and neonates with congenital HCMV infection and 31 control individuals. The presence and amount of viral DNA was determined by real-time PCR assay for UL55 gene...
February 17, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28219755/a-congenital-diverticulum-of-the-left-ventricular-apex-manifested-by-stroke-and-recurrent-ventricular-tachycardia
#13
Gabriela Dostálová, Tomáš Paleček, Petr Kuchynka, Štěpán Havránek, Martin Mašek, Zuzana Hlubocká, Debora Karetová, Dan Wichterle, Jaroslava Dušková, Jaroslav Lindner, Aleš Linhart
Ventricular outpouchings include acquired abnormalities (aneurysms and pseudoaneurysms) and congenital ventricular diverticula (CVD). CVD represent rare cardiac pathologies. Although CVD is often associated with other cardiac and extracardiac congenital anomalies, it can also be incidentally observed in otherwise healthy subjects. CVD may lead to significant morbidity and even have lethal consequences. We describe a case of arrhythmogenic left ventricle (LV) apical CVD revealed by cardiac magnetic resonance imaging (CMRI) after being initially overlooked by echocardiography...
February 4, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28219544/the-society-of-thoracic-surgeons-congenital-heart-surgery-database-2017-update-on-outcomes-and-quality
#14
Jeffrey P Jacobs, John E Mayer, Constantine Mavroudis, Sean M O'Brien, Erle H Austin, Sara K Pasquali, Kevin D Hill, David M Overman, James D St Louis, Tara Karamlou, Christian Pizarro, Jennifer C Hirsch-Romano, Donna McDonald, Jane M Han, Susan Becker, Christo I Tchervenkov, Francois Lacour-Gayet, Carl L Backer, Charles D Fraser, James S Tweddell, Martin J Elliott, Hal Walters, Richard A Jonas, Richard L Prager, David M Shahian, Marshall L Jacobs
The Society of Thoracic Surgeons Congenital Heart Surgery Database is the largest congenital and pediatric cardiac surgical clinical data registry in the world. It is the platform for all activities of The Society of Thoracic Surgeons related to the analysis of outcomes and the improvement of quality in this subspecialty. This report summarizes current aggregate national outcomes in congenital and pediatric cardiac surgery and reviews related activities in the areas of quality measurement, performance improvement, and transparency...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28219359/congenital-tuberculosis-in-an-extremely-preterm-infant-conceived-after-in-vitro-fertilization-case-report
#15
Veronica Samedi, Stephen K Field, Essa Al Awad, Gregory Ratcliffe, Kamran Yusuf
BACKGROUND: Congenital tuberculosis is a rare manifestation of tuberculosis. The diagnosis is often delayed, especially in preterm neonates because of the non-specific clinical presentation and the lack of awareness of maternal disease prior to pregnancy. CASE PRESENTATION: We report a case of congenital tuberculosis in an infant born at 24 weeks of gestation to a mother who presented with uncontrolled seizures during preterm labor. Maternal diagnosis was initially made by placental pathology, and later confirmed by isolation of Mycobacterium tuberculosis in urine, gastric aspirates and sputum...
February 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28218773/risk-factors-for-birth-defects
#16
Benjamin S Harris, Katherine C Bishop, Hanna R Kemeny, Jennifer S Walker, Eleanor Rhee, Jeffrey A Kuller
Importance: Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Risk factors for birth defects are categorized as modifiable and nonmodifiable. Modifiable risk factors require thorough patient education/counseling. The strongest risk factors, such as age, family history, and a previously affected child, are usually nonmodifiable...
February 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28218619/muscular-dystrophy-meets-protein-biochemistry-the-mother-of-invention
#17
Steven D Funk, Jeffrey H Miner
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. Defects in this BM lead to muscle fiber damage from the force of contraction. In this issue of the JCI, McKee and colleagues use a laminin polymerization-competent, designer chimeric BM protein in vivo to restore function of a polymerization-defective laminin, leading to normalized muscle structure and strength in a mouse model of MDC1A...
February 20, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28218617/chimeric-protein-repair-of-laminin-polymerization-ameliorates-muscular-dystrophy-phenotype
#18
Karen K McKee, Stephanie C Crosson, Sarina Meinen, Judith R Reinhard, Markus A Rüegg, Peter D Yurchenco
Mutations in laminin α2-subunit (Lmα2, encoded by LAMA2) are linked to approximately 30% of congenital muscular dystrophy cases. Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model for ambulatory-type Lmα2-deficient muscular dystrophy. Here, we developed transgenic dy2J mice with muscle-specific expression of αLNNd, a laminin/nidogen chimeric protein that provides a missing polymerization domain. Muscle-specific expression of αLNNd in dy2J mice resulted in strong amelioration of the dystrophic phenotype, manifested by the prevention of fibrosis and restoration of forelimb grip strength...
February 20, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28218561/scandcleft-randomised-trials-of-primary-surgery-for-unilateral-cleft-lip-and-palate-3-descriptive-study-of-postoperative-nursing-care-following-first-stage-cleft-closure
#19
Patricia Bannister, Nina Lindberg, Karin Jeppesen, Ulla Elfving-Little, Ann-Margritt Semmingsen, Anna Paganini, Annica Gustavsson, Emma Slevin, Gry Jacobsen, Phil Eyres, Gunvor Semb
BACKGROUND: Cleft lip and palate is one of the most common congenital anomalies requiring surgical treatment in children, normally commenced in the first year of life. Following the initiation of a group of multicentre surgical trials of primary surgery, variations in postoperative recovery and management became apparent. An agreement was made for a nurse-led survey in eight surgical centres to document postoperative care and recovery. MATERIALS AND METHODS: A postoperative recovery clinical report form was developed to capture relevant data for the children participating in the four arms of the trials...
February 2017: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#20
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
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