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https://www.readbyqxmd.com/read/27926905/sildenafil-in-pregnancy-a-systematic-review-of-maternal-tolerance-and-obstetric-and-perinatal-outcomes
#1
Liam Dunn, Ristan Greer, Vicki Flenady, Sailesh Kumar
INTRODUCTION: This systematic review evaluates maternal tolerance and obstetric and perinatal outcomes following sildenafil citrate (SC) use in human pregnancy. DATA SOURCES: Scopus, PubMed, Cochrane Library, Web of Science, Embase, and Google Scholar were searched. Relevant full-text studies including case series and reports in English were included. Publications were excluded if the pregnancy was terminated or if SC was used only at conception. RESULTS: Sixteen studies were included (n = 165)...
December 8, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27926639/angiotensin-converting-enzyme-inhibitors-and-the-risk-of-congenital-malformations
#2
Brian T Bateman, Elisabetta Patorno, Rishi J Desai, Ellen W Seely, Helen Mogun, Sara Z Dejene, Michael A Fischer, Alexander M Friedman, Sonia Hernandez-Diaz, Krista F Huybrechts
OBJECTIVE: To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. METHODS: We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization...
December 2, 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27925677/prenatal-anogenital-distance-is-shorter-in-fetuses-with-hypospadias
#3
Yinon Gilboa, Sharon Perlman, Zvi Kivilevitch, Baruch Messing, Reuven Achiron
OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies...
November 28, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#4
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#5
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924390/technical-standardization-of-laparoscopic-repair-of-morgagni-diaphragmatic-hernia-in-children-results-of-a-multicentric-survey-on-43-patients
#6
Ciro Esposito, Maria Escolino, Francois Varlet, Amulya Saxena, Sabine Irtan, Paul Philippe, Alessandro Settimi, Mariapina Cerulo, Holger Till, Francois Becmeur, George W Holcomb
BACKGROUND: This study aimed to standardize the surgical correction technique of congenital Morgagni diaphragmatic hernia (CMDH), analyzing the results of an international multicentric survey. METHODS: The medical records of 43 patients (29 boys, 14 girls) who underwent laparoscopic repair of CMDH in 8 pediatric surgery units in a 5-year period were retrospectively reviewed. Their average age was 3.3 years. Ten patients (23.2%) presented associated malformations: 9 Down syndrome (20...
December 6, 2016: Surgical Endoscopy
https://www.readbyqxmd.com/read/27923889/zika-virus-a-serious-global-health-threat
#7
Candice J McNeil, Avinash K Shetty
In February 2016, the World Health Organization declared Zika virus (ZIKV) infection a public health emergency of international concern, given the precipitous spread of the virus across the Americas. Unlike arboviruses such as Chikungunya and Dengue, which have also recently emerged in the western hemisphere, ZIKV was identified in communities where concurrent neurologic conditions such as microcephaly and Guillain-Barre (GB) syndrome were occurring at alarming rates. Thus, investigations to systematically evaluate the link between ZIKV, congenital malformations (including microcephaly) and GB syndrome remain a top priority...
December 5, 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/27923749/spinal-glomus-arteriovenous-malformation-presenting-with-a-subarachnoid-hemorrhage
#8
Pascal Jabbour, Badih Daou, Elias Atallah, Fadi Al-Saiegh, Kenan Alkhalili, Stavropoula Tjoumakaris
BACKGROUND AND IMPORTANCE: Spinal arteriovenous malformations (AVMs) are rare lesions that may cause serious neurologic morbidity. With the developments in endovascular technology and embolic materials, endovascular management of spinal AVMs has gained significant popularity. CLINICAL PRESENTATION: A 61-year-old female presented with the worst headache of her life, associated with an acute onset of nausea and vomiting and was shown to have a grade 2 subarachnoid hemorrhage on CT scan...
December 3, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27923033/erratum-endothelial-exocytosis-of-angiopoietin-2-resulting-from-ccm3-deficiency-contributes-to-cerebral-cavernous-malformation
#9
Huanjiao Jenny Zhou, Lingfeng Qin, Haifeng Zhang, Wenwen Tang, Weidong Ji, Yun He, Xiaoling Liang, Zongren Wang, Qianying Yuan, Alexander Vortmeyer, Derek Toomre, Germaine Fuh, Minghong Yan, Martin S Kluger, Dianqing Wu, Wang Min
No abstract text is available yet for this article.
December 6, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27922533/a-propensity-score-based-fine-stratification-approach-for-confounding-adjustment-when-exposure-is-infrequent
#10
Rishi J Desai, Kenneth J Rothman, Brian T Bateman, Sonia Hernandez-Diaz, Krista F Huybrechts
BACKGROUND: When exposure is infrequent, propensity score matching results in reduced precision because it discards a large proportion of unexposed patients. To our knowledge, the relative performance of propensity score stratification in these circumstances has not been examined. METHODS: Using an empirical example of the association of first-trimester statin exposure (prevalence=0.04%) with risk of congenital malformations and 1,000 simulated cohorts (n=20,000) with eight combinations of exposure prevalence (0...
November 29, 2016: Epidemiology
https://www.readbyqxmd.com/read/27922488/intraoperative-assessment-of-facial-nerve-trunk-width-in-early-childhood-with-cervicofacial-lymphatic-malformation
#11
Ara Kim, Jeong-Meen Seo, So Young Lim
BACKGROUND: Facial nerve damage during head and neck surgery has long been an important issue. However, few publications on the gross anatomy of the facial nerve are available in the young population. The aim of this study was to provide in vivo measurements of the facial nerve trunk during lymphatic malformation (LM) resection and to determine the association between the trunk width and patient- and disease-related variables. METHODS: We conducted a retrospective analysis of 11 consecutive pediatric patients (11 facial nerve trunks) who underwent cervicofacial LM resection...
December 2, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27922232/changing-epidemiology-of-non-cystic-fibrosis-bronchiectasis
#12
Semiha Bahçeci, Sait Karaman, Hikmet Tekin Nacaroğlu, Selçuk Yazıcı, Saniye Girit, Şule Ünsal-Karkıner, Demet Can
Non-cystic fibrosis bronchiectasis again becomes a major health problem due to inappropriate antibiotic use and increasing frequency of protracted bacterial bronchitis. The aim was to determine the changes in etiology of bronchiectasis. Patients who admitted to Behçet Uz Children Hospital between 2005 and 2015 (n=110) were retrospectively examined. The etiology of bronchiectasis was detected as; primary ciliary dyskinesia 26.4%, protracted bacterial bronchitis 22.8%, primary immune deficiency 11.8%, bronchiolitis obliterans 8...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921214/external-validity-of-the-chiari-severity-index-and-outcomes-among-pediatric-chiari-i-patients-treated-with-intra-or-extra-dural-decompression
#13
Jared M Pisapia, Maxwell B Merkow, Danielle Brewington, Rosemary E Henn, Leslie N Sutton, Phillip B Storm, Gregory G Heuer
INTRODUCTION: Chiari malformation type-1 (CM-1) may be treated by intradural (ID) or extradural (ED) posterior fossa decompression, although the optimal approach is debated. The Chiari Severity Index (CSI) is a pre-operative metric to predict patient-defined improvement after CM-1 surgery. In this study, we evaluate the results of ID versus ED decompression and assess the external validity of the CSI. METHODS: We performed a retrospective cohort study of pediatric CM-1 patients undergoing decompression at a single academic children's hospital...
December 5, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27920841/wolffian-origin-of-vagina-unfolds-the-embryopathogenesis-of-ohvira-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-and-places-ohvira-as-a-female-counterpart-of-zinner-syndrome-in-males
#14
Yashant Aswani, Ravi Varma, Pradeep Choudhary, Reeta B Gupta
BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#15
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#16
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920266/variability-of-ponto-cerebellar-fibers-by-diffusion-tensor-imaging-in-diverse-brain-malformations
#17
Nancy K Rollins, Timothy N Booth, Maria H Chahrour
To describe pontine axonal anomalies across diverse brain malformations. Institutional review board-approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development...
December 5, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27919838/a-cgh-array-procedure-to-detect-pax6-gene-structural-defects
#18
Alessandra Franzoni, Patrizia Dello Russo, Federica Baldan, Angela Valentina D'Elia, Cinzia Puppin, Silvana Penco, Giuseppe Damante
Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises. In order to develop a new tool to analyze aniridia and WAGR subjects, a CGH array (CGHa) of the PAX6 genomic region was set up. We generated a custom microarray kit using an oligonucleotide-based platform that allows high resolution molecular profiling of genomic aberrations in 20 Mb of the 11p13 chromosomal region, centered on the PAX6 gene...
December 2, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#19
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27919154/-many-doubts-about-the-relationship-between-cases-of-microcephaly-and-zika-virus-in-brazil
#20
Roberto Ronchetti, Pietro Massimiliano Bianco
During the last few years, Zika virus rapidly spread across Central and South America and in the last months has spread also across Southern States of USA. As the epidemic began in Brazil, an increase of microcephaly cases was registered, causing concern and inducing the World Health Organization to raise an alarm. Certainly, the Zika virus, as many other viruses, has the capacity to induce severe cerebral lesions in foetuses of women infected during the first months of pregnancy. Moreover, more than 80% of cases of craniostenosys that verisimilarly took place in Brazil from September 2015 up to now were registered in few states of North- Eastern Brazil, where peaks of this malformation were registered several years before the appearance of Zika virus...
November 2016: Epidemiologia e Prevenzione
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