keyword
MENU ▼
Read by QxMD icon Read
search

VACTERL

keyword
https://www.readbyqxmd.com/read/27928719/correlation-between-quality-of-life-and-functional-outcomes-in-operated-children-with-anorectal-malformations-using-the-krickenbeck-consensus
#1
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
#2
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
#3
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...
October 26, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27756070/long-gap-esophageal-atresia-is-a-unique-entity-within-the-esophageal-atresia-defect-spectrum
#4
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...
October 19, 2016: Neonatology
https://www.readbyqxmd.com/read/27717162/embryonic-hypocellularity-blastogenetic-malformations-and-fetal-growth-restriction
#5
Mark Lubinsky
An association between congenital malformations and fetal growth restriction (FGR) can be largely explained by a relationship with early embryonic hypocellularity. The malformations include the VACTERL association, which is exceptional as a Mendelian syndrome, but is commonly associated with monozygotic twinning, maternal diabetes, and some forms of aneuploidy, all characterized by a small embryo early in development. Parsimony suggests that these different links to VACTERL are related to the hypocellularity as a single common factor, rather than as an expression of three independent pathogenetic processes...
September 22, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27567656/vacterl-association-with-sacrococcygeal-teratoma
#6
Rahul Gupta, Vinita Chaturvedi
No abstract text is available yet for this article.
August 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27433451/it-s-not-all-doom-and-gloom-prune-belly-syndrome-associated-with-vacterl
#7
Karim Awad, Anupam Lall
Prune belly syndrome is a rare abnormality; its association with VACTERL is even rarer. This association has been reported in literature a few times since first reported in 1993 and so far the majority have either been stillbirths or died shortly after birth. We present a case of Prune belly syndrome associated with VACTERL who is now one year old.
July 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27372296/anorectal-malformations-associated-spinal-cord-anomalies
#8
Giorgia Totonelli, Francesco Morini, Vincenzo Davide Catania, Paolo Maria Schingo, Giovanni Mosiello, Paolo Palma, Barbara Daniela Iacobelli, Pietro Bagolan
PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI)...
August 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27363649/low-vertebral-ano-rectal-cardiac-tracheo-esophageal-renal-limb-screening-rates-in-children-with-anorectal-malformations
#9
Victoria A Lane, Erica Ambeba, Deena J Chisolm, Daniel Lodwick, Marc A Levitt, Richard J Wood, Katherine J Deans, Peter C Minneci
BACKGROUND: The aim of this study was to establish the rate of screening for associated cardiac, vertebral, spinal cord, urologic, and limb anomalies vertebral ano-rectal cardiac tracheo-esophageal renal limb (VACTERL) in children with anorectal malformation (ARM). METHODS: We performed a retrospective cohort study using the Medicaid Analytic eXtract database which contains enrollment and utilization claims and demographic information from all Medicaid enrollees...
June 15, 2016: Journal of Surgical Research
https://www.readbyqxmd.com/read/27084730/the-genetic-landscape-and-clinical-implications-of-vertebral-anomalies-in-vacterl-association
#10
REVIEW
Yixin Chen, Zhenlei Liu, Jia Chen, Yuzhi Zuo, Sen Liu, Weisheng Chen, Gang Liu, Guixing Qiu, Philip F Giampietro, Nan Wu, Zhihong Wu
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients...
July 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27061706/vesico-amniotic-shunting-for-lower-urinary-tract-obstruction-in-a-fetus-with-vacterl-association
#11
Tomonobu Kanasugi, Akihiko Kikuchi, Gen Haba, Yuri Sasaki, Chizuko Isurugi, Rie Oyama, Toru Sugiyama
Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27032608/fluoroscopic-balloon-dilatation-for-anastomotic-strictures-in-patients-with-esophageal-atresia-a-fifteen-year-single-centre-uk-experience
#12
Arimatias Raitio, Rosie Cresner, Richard Smith, Matthew O Jones, Paul D Losty
AIM OF THE STUDY: To assess the safety and effectiveness of fluoroscopic balloon dilatation (FBD) in children with esophageal anastomotic stricture after surgical repair of esophageal atresia. METHODS: All patients undergoing surgery for esophageal atresia and requiring dilatation(s) during a consecutive 15-year period [April 2000-September 2014] were analyzed. Dilatations were performed as day case procedures under general anesthesia using a radial force generating balloon device (Boston Scientific Corporation) by surgeons...
September 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27028275/thinking-of-vacterl-h-rule-out-fanconi-anemia-according-to-phenos
#13
Blanche P Alter, Neelam Giri
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound)...
June 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26969228/pathology-of-cloaca-anomalies-with-case-correlation
#14
Anita Gupta, Andrea Bischoff
During the fourth week of human embryo development, a transient common channel known as a cloaca is formed from which three cavities with three external orifices arises. Cloaca anomalies occur when there is failure of separation of the rectum, vagina, and urethra channel resulting in a single drain into the perineum. In our previous institutional studies, Runck et al. compared human and mouse cloaca development and found early mis-patterning of the embryonic cloaca deranged hedgehog and bone morphogenetic proteins (BMP) signaling...
April 2016: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/26954872/type-iv-congenital-laryngeal-web-case-report-and-15-year-follow-up
#15
Brendan Sorichetti, John P Moxham, Frederick K Kozak
A five day old patient with mild VACTERL syndrome had repair of a type IV congenital laryngeal web with successful decannulation 76 days later. Voice and respiratory outcome is good with follow up 15 years later. This case presents a rare clinical finding of a type IV laryngeal web successfully repaired with a keel and subsequent long term follow up during an era when it was suggested that repair be delayed until 18 months of age at the earliest.
March 2016: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/26929876/neonate-with-vacterl-association-and-a-branchial-arch-anomaly-without-hydrocephalus
#16
Danitza Velazquez, Elaine Pereira, Thomas Havranek
VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies...
March 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/26921937/outcome-in-anorectal-malformation-type-rectovesical-fistula-a-nationwide-cohort-study-in-the-netherlands
#17
H J J van der Steeg, S M B I Botden, C E J Sloots, A F W van der Steeg, P M A Broens, L W E van Heurn, D V Travassos, I A L M van Rooij, I de Blaauw
PURPOSE: Outcomes of patients with an ARM-type rectovesical fistula are scarcely reported in medical literature. This study evaluates associated congenital anomalies and long-term colorectal and urological outcome in this group of ARM-patients. METHODS: A retrospective Dutch cohort study on patients treated between 1983 and 2014 was performed. Associated congenital anomalies were documented, and colorectal and urological outcome recorded at five and ten years of follow-up...
August 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/26881326/vater-vacterl-association-and-caudal-regression-with-xq25-q27-3-microdeletion-a-case-report
#18
Surasak Puvabanditsin, James Van Gurp, Melissa February, Marwa Khalil, Julia Mayne, Jennifer Ai McConnell, Rajeev Mehta
We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.
2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/26857713/underlying-genetic-factors-of-the-vater-vacterl-association-with-special-emphasis-on-the-renal-phenotype
#19
REVIEW
Heiko Reutter, Alina C Hilger, Friedhelm Hildebrandt, Michael Ludwig
The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a "Renal" phenotype comprising a large spectrum of congenital renal anomalies...
November 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26844876/moyamoya-disease-in-a-patient-with-vacterl-association
#20
Christopher S Hong, Anthony C Wang, Robert H Bonow, Isaac J Abecassis, Catherine Amlie-Lefond, Richard G Ellenbogen
BACKGROUND: VACTERL association is characterized by a group of congenital malformations that tend to occur together. Rarely, concurrent cerebrovascular abnormalities have been reported. In this article, we present the first reported case of moyamoya disease in a patient with VACTERL association. CASE DESCRIPTION: The patient presented in the neonatal period with esophageal atresia with distal tracheoesophageal fistula as well as an imperforate anus. He also had a ventricular septal defect and persistent foramen ovale...
May 2016: World Neurosurgery
keyword
keyword
23923
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"