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https://www.readbyqxmd.com/read/28770133/ectopic-scrotum-with-vacterl-association
#1
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
https://www.readbyqxmd.com/read/28672091/young-children-with-severe-congenital-malformations-vacterl-expressed-mixed-feelings-about-their-condition-and-worries-about-needles-and-anaesthesia
#2
A-M Kassa, G Engvall, H Engstrand Lilja
AIM: Our knowledge of the perceptions that children with severe congenital malformations have of their health, treatment and how to improve hospital care is limited. This study focused on patients with vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities (VACTERL). METHODS: We interviewed 10 children aged 5-8 years with VACTERL association who were treated in a Swedish tertiary paediatric surgical centre in 2015 and 2016, by using a computer-assisted technique called In My Shoes...
July 3, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28640129/vacter-syndrome-with-situs-inversus-totalis-case-report-and-a-new-syndrome
#3
Wei Wu, Zhibao Lv, Weijue Xu, Jiangbing Liu, Wei Jia
INTRODUCTION: The association of situs inversus totalis (SIT) and VACTERL syndrome an extremely rare coincidence. PATIENTS: The patient was first diagnosed as simple SIT with lumbosacral neoplasms according to the prenatal magnetic resonance imaging (MRI) examination; however, the local hospital ignored the important to physical examination so that missed anal atresia with fistula. The patient was presented to our hospital owing to constipation for 1 week. And then, she was diagnosed as VACTER syndrome with situs inversus totalis...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28605140/array-based-molecular-karyotyping-in-115-vater-vacterl-and-vater-vacterl-like-patients-identifies-disease-causing-copy-number-variations
#4
Rong Zhang, Florian Marsch, Franziska Kause, Franziska Degenhardt, Eeberhard Schmiedeke, Stefanie Märzheuser, Bernd Hoppe, Haitham Bachour, Thomas M Boemers, Matthias Schäfer, Nicole Spychalski, Jörg Neser, Johannes Leonhardt, Ferdinand Kosch, Benno Ure, Barbara Gómez, Martin Lacher, Oliver J Deffaa, Markus Palta, Boris Wittekindt, Katharina Kleine, Andrea Schmedding, Sabine Grasshoff-Derr, Amelie van der Ven, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Heiko Reutter
BACKGROUND: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes...
June 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28603565/current-concepts-congenital-scoliosis
#5
Agnivesh Tikoo, Manish K Kothari, Kunal Shah, Abhay Nene
BACKGROUND: Congenital scoliosis is one of the 'difficult to treat' scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#6
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28545763/13-ribs-as-a-predictor-of-long-gap-esophageal-atresia-myth-or-reality-analysis-of-associated-findings-of-esophageal-atresia-and-abnormal-rib-count
#7
Jonathan Durell, Haitham Dagash, Bala Eradi, Ashok Rajimwale, Shawqui Nour, Nitin Patwardhan
BACKGROUND: The presence of 13 pairs of ribs on pre-operative chest x-ray has been postulated to be an indicator for long gap esophageal atresia (EA). This study sought to determine the validity of this theory and identify associated pathological conditions in patients with EA and abnormal rib count. METHODS: Babies with EA from January 2005 - December 2012 were retrospectively analyzed. Information was gathered from neonatal health records and operation notes. Chest x-rays were reviewed to determine rib count...
May 2, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28516189/improving-the-rigour-of-vacterl-screening-for-neonates-with-anorectal-malformations
#8
Richard John England, Bala Eradi, Govind V Murthi, Jonathan Sutcliffe
PURPOSE: Screening investigations for the vertebral, anorectal, cardiac, tracheo-oesophageal, renal and limb (VACTERL) association form an important part of the management of neonates with anorectal malformations (ARMs). We developed a proforma to define investigations and indications for referral. The aim of the current study was to determine if the proforma could improve screening rigour. METHODS: Four centres performed a 3-year retrospective audit of neonates with ARM...
July 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28509418/sirenomelia-a-multi-systemic-polytopic-field-defect-with-ongoing-controversies
#9
REVIEW
Lucas L Boer, Eva Morava, Willemijn M Klein, Annelieke N Schepens-Franke, Roelof Jan Oostra
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis...
May 16, 2017: Birth defects research
https://www.readbyqxmd.com/read/28446132/pcsk5-is-required-in-the-early-cranio-cardiac-mesoderm-for-heart-development
#10
Dorota Szumska, Milena Cioroch, Angela Keeling, Annik Prat, Nabil G Seidah, Shoumo Bhattacharya
BACKGROUND: Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects)...
April 26, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28403078/renal-dysplasia-characterized-by-prominent-cartilaginous-metaplasia-lesions-in-vacterl-association-a-case-report
#11
Takeo Nakaya, Taiju Hyuga, Yukichi Tanaka, Shina Kawai, Hideo Nakai, Toshiro Niki, Akira Tanaka
BACKGROUND: Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28291300/-possible-relation-between-antenatal-venlafaxine-use-and-vacterl-association-in-a-newborn-a-case-report
#12
Muammer Özgür Çevik, Mustafa Çelik, İbrahim Hakan Bucak, Behice Han Almış, Mehmet Turğut
Major depressive disorder is common during antenatal period and many women are prescribed antidepressant drugs despite no antidepressant can be regarded as definitely safe in pregnancy. Previous studies have suggested links between gestational use of selective serotonin reuptake inhibitors (SSRI) or serotonin and norepinephrine reuptake inhibitors (SNRI) and certain birth defects. VACTERL association is a rare group of congenital malformations which were observed to occur together more often than would be expected by chance...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28265405/22q11-2-microduplication-syndrome-with-associated-esophageal-atresia-tracheo-esophageal-fistula-and-vascular-ring
#13
Linda T Nguyen, Rachel Fleishman, Emilee Flynn, Rajeev Prasad, Achintya Moulick, Cesar Igor Mesia, Sue Moyer, Reena Jethva
This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.
March 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28109502/bilateral-cochlear-nerve-absence-in-a-3-year-old-child-with-vacterl-association
#14
Milan Rudić, Winson Wong, Stuart Viner, David Strachan, Christopher Raine
We report a case of a 3 year old boy with bilateral profound sensorineural hearing loss diagnosed from New Born Hearing Screening, with severe form of VACTERL association. He was referred to our Cochlear Implant Unit for assessment with regard to the possibility of cochlear implantation. MRI findings have showed bilateral vestibulocochlear cystic abnormalities. Only single nerve noted within the IAM on the right and likely single nerve within the IAM on the left. Hence, decision was made not to offer cochlear implantation...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28092212/systemic-medications-used-in-treatment-of-common-dermatological-conditions-safety-profile-with-respect-to-pregnancy-breast-feeding-and-content-in-seminal-fluid
#15
S M Brown, K A Aljefri, R Waas, P J Hampton
Prescribing for pregnant or lactating patients and male patients wishing to father children can be a difficult area for dermatologists. There is a lack of review articles of commonly used systemic medications in dermatology with respect to their effects on developing embryogenesis and their potential transfer across the placenta, in breast milk and in seminal fluid. This paper aims to provide an up to date summary of evidence to better equip dermatologists to inform patients about the effects of systemic medications commonly used in dermatology to treat conditions such as atopic dermatitis, psoriasis and acne, on current and future embryogenesis and fertility...
January 16, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28003020/vertebral-defect-anal-atresia-cardiac-defect-tracheoesophageal-fistula-esophageal-atresia-renal-defect-and-limb-defect-association-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-in-co-occurrence-two-case-reports-and-a-review-of-the-literature
#16
REVIEW
Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B Petersen
BACKGROUND: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases...
December 21, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27928719/correlation-between-quality-of-life-and-functional-outcomes-in-operated-children-with-anorectal-malformations-using-the-krickenbeck-consensus
#17
V Shankar Raman, Sandeep Agarwala, Veereshwar Bhatnagar
OBJECTIVE: To correlate the functional outcomes in children operated for anorectal malformations (ARM) using the Krickenbeck consensus and their quality of life (QOL). METHODS: Thirty-three children operated at a tertiary care Pediatric surgery centre were studied 2 y after completion of all the surgeries and if more than 3 y of age. The functional stooling outcomes, type of anomalies and surgical procedures were tabulated using the Krickenbeck classification. The QOL questionnaire consisted of five parameters (Social habit, school attendance, daily activity, relation to peers and feeling) and the scoring ranged between 0 and 12: Good (8-12), Fair (5-7) and Poor (0-4)...
December 8, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#18
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/27785539/computed-tomography-and-upper-gastrointestinal-series-findings-of-esophageal-bronchi-in-infants
#19
Gabrielle C Colleran, Ciara E Ryan, Edward Y Lee, Brian Sweeney, David Rea, Clare Brenner
BACKGROUND: Esophageal bronchus is a rare form of communicating bronchopulmonary foregut malformation and a rare but important cause of an opaque hemithorax on chest radiography. A higher incidence of esophageal bronchus is associated with esophageal atresia, tracheo-esophageal fistula (TEF) and VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association. In the presence of these conditions, the pediatric radiologist may be the first to consider the diagnosis of esophageal bronchus or esophageal lung...
February 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/27756070/long-gap-esophageal-atresia-is-a-unique-entity-within-the-esophageal-atresia-defect-spectrum
#20
Sigrid Bairdain, David Zurakowski, Sara O Vargas, Nicole Stenquist, Molly McDonald, Meghan C Towne, David T Miller, Russell W Jennings, David B Kantor, Pankaj B Agrawal
BACKGROUND: Long-gap esophageal atresia (LGEA) may have clinical and syndromic presentations different from those of esophageal atresia (EA) that affects shorter segments of the esophagus (non-LGEA). This may suggest unique underlying developmental mechanisms. OBJECTIVES: We sought to characterize clinical differences between LGEA and non-LGEA by carefully phenotyping a cohort of EA patients, and furthermore to assess molecular genetic findings in a subset of them...
2017: Neonatology
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