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https://www.readbyqxmd.com/read/28403078/renal-dysplasia-characterized-by-prominent-cartilaginous-metaplasia-lesions-in-vacterl-association-a-case-report
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27717162/embryonic-hypocellularity-blastogenetic-malformations-and-fetal-growth-restriction
#11
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...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27567656/vacterl-association-with-sacrococcygeal-teratoma
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
REVIEW
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
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