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https://www.readbyqxmd.com/read/29744644/an-epigenetic-association-of-malformations-adverse-reproductive-outcomes-and-fetal-origins
#1
Mark Lubinsky
VACTERL, the prototype for associated congenital anomalies, also has connections with functional issues such as pregnancy losses, prematurity, growth delays, perinatal difficulties, and parental subfertility. This segues into a broader association with similar connections even in the absence of malformations. DNA methylation disturbances in the ovum are a likely cause, with epigenetic links to individual components and to folate effects before conception, explaining diverse fetal and placental findings and providing a link to fetal origin hypothesis-related effects...
May 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29738385/safe-intraoperative-neurophysiologic-monitoring-during-posterior-spinal-fusion-in-a-patient-with-cochlear-implants
#2
Godwin Abiola, Bryan Kevin Ward, Stephen Bowditch, Eva Katharina Ritzl, John Patrick Carey
OBJECTIVE: Cochlear implants are generally considered a contraindication for any procedure requiring electrical stimulation near the implant. We present a case of a patient undergoing intraoperative transcranial electrical motor-evoked potential monitoring with a cochlear implant without adverse outcomes. PATIENT: A 12-year-old girl with a history of VACTERL presented with worsening congenital kyphosis and bilateral severe-to-profound hearing loss. Since age 7 the patient used a cochlear implant in the right ear and hearing aid in the left ear...
June 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29680275/can-sacral-development-as-a-marker-for-caudal-regression-help-identify-associated-urologic-anomalies-in-patients-with-anorectal-malformation
#3
Alejandra Vilanova-Sanchez, Carlos A Reck, Yuri V Sebastião, Molly Fuchs, Devin R Halleran, Laura Weaver, D Gregory Bates, Alessandra C Gasior, Tassiana Maloof, Erin J Hoover, Jordan Jaggers, Renae Gagnon, Christina C Ching, Daniel Dajusta, Venkata R Jayanthi, Marc A Levitt, Richard J Wood
BACKGROUND AND AIM: The sacral ratio (SR) is a well-established tool to quantify sacral development in patients with anorectal malformations (ARM) and can be used as a predictor of fecal continence. We hypothesized that a lower SR correlated with the presence of urologic and renal malformations. METHODS: We retrospectively reviewed the medical records of patients with ARM treated at our center from 2014 to 2016. We measured the lateral SR as a marker for sacral development and assessed the spine for the presence of tethered cord (TC)...
March 23, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29490714/a-pulmonary-artery-sling-with-a-vascular-ring-in-a-toddler-an-uncommon-combination
#4
Ziyad M Binsalamah, Charles D Fraser, Carlos M Mery
Pulmonary artery slings and vascular rings are very rare congenital anomalies. It is even rarer to have both anomalies in the same setting. We present a case of a toddler who was diagnosed with a left pulmonary artery sling and a vascular ring as part of the screening process for the VACTERL association - co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb malformations. He underwent a successful surgical repair via median sternotomy and on cardiopulmonary bypass with an uneventful postoperative course...
May 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29373986/etiological-heterogeneity-and-clinical-variability-in-newborns-with-esophageal-atresia
#5
Ettore Piro, Ingrid Anne Mandy Schierz, Mario Giuffrè, Giovanni Cuffaro, Simona La Placa, Vincenzo Antona, Federico Matina, Giuseppe Puccio, Marcello Cimador, Giovanni Corsello
BACKGROUND: The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. METHODS: Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D)...
January 26, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29373345/basic-knowledge-of-tracheoesophageal-fistula-and-esophageal-atresia
#6
Sura Lee
BACKGROUND: Tracheoesophageal fistula (TEF) and esophageal atresia (EA) are rare anomalies in neonates. Up to 50% of neonates with TEF/EA will have Vertebral anomalies (V), Anal atresia (A), Cardiac anomalies (C), Tracheoesophageal fistula (T), Esophageal atresia (E), Renal anomalies (R), and Limb anomalies (L) (VACTERL) association, which has the potential to cause serious morbidity. PURPOSE: Timely management of the neonate can greatly impact the infant's overall outcome...
February 2018: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29261186/genomic-study-of-severe-fetal-anomalies-and-discovery-of-greb1l-mutations-in-renal-agenesis
#7
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey, Elisabeth Flori, Mireille Cloutier, David Dyment, Philippe Campeau, Aspasia Karalis, Sonia Nizard, William D Fraser, François Audibert, Emmanuelle Lemyre, Guy A Rouleau, Fadi F Hamdan, Zoha Kibar, Jacques L Michaud
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29250894/vacterl-phenotype-with-mosaic-trisomy-5-and-uniparental-disomy-5
#8
LETTER
Samuel Hwang, Mary Katharine Rudd, Lisa Finch, Suzanne E Peterson, Raj P Kapur
No abstract text is available yet for this article.
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29250692/esophageal-atresia-with-distal-fistula-unusual-case-series-considerations-related-to-epidemiological-aspects-malformative-associations-and-prenatal-diagnosis
#9
Maria Livia Ognean, Laura Corina Zgârcea, Laura Bălănescu, Oana Boantă, Raluca Elena Dumitra, Florin Grosu, Dan Georgian Bratu, Adrian Gheorghe Boicean, Liliana Coldea, Radu Chicea
BACKGROUND: Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent. AIM: The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA with distal TEF. CASE PRESENTATIONS: The authors are analyzing a series of seven cases of EA with distal TEF...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29239919/accessory-auricles-systematic-review-of-definition-associated-conditions-and-recommendations-for-clinical-practice
#10
Sasan Amirhassankhani, Mark S Lloyd
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. Presentation may be variable with locations grouped into anatomical zones based on the frequency of location found in the literature. This study reviewed the papers between 1981 and 2017. Findings included an association with syndromes including Goldenhar, VACTERL, Treacher-Collins, Townes-Brocks, and Wolf-Hirschhorn. Based on histological and embryological evidence, the term "accessory auricle" is best used as an umbrella term to define this difference...
March 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#11
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
No abstract text is available yet for this article.
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#12
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
January 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#13
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
January 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29110636/phenotypic-and-genotypic-aspects-of-townes-brock-syndrome-case-report-of-patient-in-southern-brazil-with-a-new-sall1-hotspot-region-nonsense-mutation
#14
Paulo Breno Noronha Liberalesso, Mara L Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect...
November 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29062381/a-rare-case-of-pulmonary-artery-sling-with-the-vacterl-association-in-a-20-month-old-infant
#15
Yazdan Ghandi, Akbar Shafiee, Mehrazad Sharifi, Najmeh Sadat Bolandnazar
The VACTERL association, co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, is a rare congenital anomaly. Several cardiac anomalies have been reported as a part of the VACTERL association, particularly ventricular and atrial septal defects. Pulmonary artery sling is a rare congenital abnormality in which the left pulmonary artery arises from the right pulmonary artery. This anomaly is not frequently observed in the VACTERL association and has been rarely reported...
July 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/29031871/sirenomelia-with-vacterl-association-a-rare-anomaly
#16
Vasanthan Tanigasalam, Mamatha Gowda, Nishad Plakkal, B Adhisivam, B Vishnu Bhat
No abstract text is available yet for this article.
September 27, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29016431/incidence-of-congenital-spinal-abnormalities-among-pediatric-patients-and-their-association-with-scoliosis-and-systemic-anomalies
#17
Peter G Passias, Gregory W Poorman, Cyrus M Jalai, Bassel G Diebo, Shaleen Vira, Samantha R Horn, Joseph F Baker, Kartik Shenoy, Saqib Hasan, John Buza, Wesley Bronson, Justin C Paul, Ian Kaye, Norah A Foster, Ryan T Cassilly, Jonathan H Oren, Ronald Moskovich, Breton Line, Cheongeun Oh, Shay Bess, Virginie LaFage, Thomas J Errico
BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems...
October 9, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28942414/severe-unicuspid-aortic-valve-stenosis-vacterl-association
#18
Mohamad Soud, Homam Moussa Pacha, M Chadi Alraies
No abstract text is available yet for this article.
September 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28878607/genetic-testing-in-a-cohort-of-complex-esophageal-atresia
#19
Eliane Beauregard-Lacroix, Jessica Tardif, Emmanuelle Lemyre, Zoha Kibar, Christophe Faure, Philippe M Campeau
The objective of the present study is to describe a cohort of complex esophageal atresia and the yield of genetic tests performed for such patients. We selected 45 patients with complex esophageal atresia (EA), namely those having at least one associated anomaly. We reviewed their medical records to assess clinical features, other diagnoses, and genetic investigations. Most of the patients had a diagnosis of VACTERL association (56%) with no genetic variant identified. Interestingly, 5 patients in the cohort (11%) had a right pulmonary hypoplasia or agenesis...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28770133/ectopic-scrotum-with-vacterl-association
#20
Samiul Hasan, Ashrarur Rahman Mitul, Sabbir Karim
Scrotal ectopia is a rare condition. Associated anomalies are common. We describe a neonate with ectopic scrotum with VACTERL association. This combination of anomalies is very rare.
April 2017: Journal of Neonatal Surgery
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