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Anal atresia

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https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#1
Yue-Ping Wang, Da-Jia Wang, Zhi-Bin Niu, Wan-Ting Cui
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31‑qter; 20...
April 3, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28328532/cushing-s-syndrome-in-infancy-due-to-ectopic-acth-secretion-by-a-sacro-coccygeal-teratoma
#2
Marta Rydzewska, Maryna Krawczuk-Rybak, Adrianna Zajkowska, Natalia Jurczuk, Dariusz Polnik, Mieczysław Szalecki, Elżbieta Moszczyńska, Martin O Savage, Artur Bossowski
BACKGROUND: Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. CASE PRESENTATION: A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28291300/-possible-relation-between-antenatal-venlafaxine-use-and-vacterl-association-in-a-newborn-a-case-report
#3
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/28191911/mutations-of-myh14-are-associated-to-anorectal-malformations-with-recto-perineal-fistulas-in-a-small-subset-of-chinese-population
#4
Zhongxian Zhu, Lei Peng, Guanglin Chen, Weiwei Jiang, Ziyang Shen, Chunxia Du, Rujin Zang, Yang Su, Hua Xie, Hongxing Li, Yankai Xia, Weibing Tang
Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. Here, we first performed whole-exome sequencing in a non-consanguineous Chinese family and the result revealed a homozygous mutation (GenBank: NM_001077186; c.5393C>A[p.Ala1806Asp]) in MYH14, which encodes one of the NM II heavy chain (NMHC II) proteins playing vital roles in cell adhesion and migration...
February 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28121970/resorbable-mesh-cranioplasty-repair-of-bilateral-cerebrospinal-fluid-leaks-following-pediatric-simultaneous-bilateral-auditory-brainstem-implant-surgery
#5
Giacomo Colletti, Marco Mandalà, Vittorio Colletti, Alberto Deganello, Fabiana Allevi, Liliana Colletti
OBJECTIVE: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. PATIENT: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28116474/prenatal-magnetic-resonance-and-ultrasonographic-findings-in-small-bowel-obstruction-imaging-clues-and-postnatal-outcomes
#6
Eva I Rubio, Anna R Blask, Andrea T Badillo, Dorothy I Bulas
BACKGROUND: Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. OBJECTIVE: To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management...
January 23, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28070723/anorectal-malformations-definitive-surgery-during-adulthood
#7
M P J Lopez, V I Encila, S G Alamo, H J Monroy Iii, M F T Roxas
BACKGROUND: Anorectal malformations (ARMs) are rarely seen in adults, since majority of cases are corrected in infancy or childhood. The aim of this study was to describe the profile of patients who underwent definitive surgery to correct their ARM in adulthood, and to discuss the outcomes of surgery (morbidity, mortality, and function). METHODS: This retrospective study included patients 18 years old and above, managed surgically by the Division of Colorectal Surgery at the Philippine General Hospital, University of the Philippines, Manila, from January 1, 2004, to December 31, 2012...
January 9, 2017: Techniques in Coloproctology
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
#8
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/27879005/transient-distention-of-right-posterior-located-sigma-a-new-sonographic-sign-for-the-prenatal-diagnosis-of-anal-atresia
#9
Moshe Bronshtein, Ayala Gover, Ron Beloosesky, Zeev Blumenfeld
We describe a new sonographic sign for the detection of anal atresia in the early midtrimester on transvaginal sonography. In six cases of fetal anal atresia, the finding of a transient, distended, and right-sided sigmoid colon was observed at 13-16 weeks' gestation. Three cases have undergone pregnancy termination due to multiple anomalies. In the other three, the colonic distension resolved by 19 weeks' gestation. In two of these, the finding was isolated, and no other anomalies were detected. In all six cases, anal atresia or cloaca was confirmed on postabortal autopsy or after delivery...
March 4, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27785539/computed-tomography-and-upper-gastrointestinal-series-findings-of-esophageal-bronchi-in-infants
#10
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/27755235/late-recognition-of-a-case-of-oculo-auriculo-vertebral-spectrum
#11
Jeylan El Mansoury, Joyce N Mbekeani
PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS). CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag...
October 13, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27608968/congenital-anomalies-following-use-of-isotretinoin-emphasis-on-its-legal-aspects
#12
Naimeh Farhidnia, Azadeh Memarian
We described a neonate with severe and multiple abnormalities following use of isotretinoin, in spite of the mother's previous knowledge of drug complications. Initial physical examination after delivery showed congenital absence of both eyes and both auricles as well as anal atresia and a cleft palate. Due to severe respiratory distress and atresia of the anus, the neonate was admitted to a neonatal intensive care unit and underwent reconstructive surgery. The drug should not have been used during pregnancy...
September 8, 2016: Medico-legal Journal
https://www.readbyqxmd.com/read/27324544/-risk-factors-for-congenital-anal-atresia
#13
Xiao-Yan Gao, Ping-Ming Gao, Shi-Guang Wu, Zhi-Guang Mai, Jie Zhou, Run-Zhong Huang, Shui-Tang Zhang, Huan-Qiong Zhong, You-Ming Liao, Ai-Min Zhang, Tie-Jun Liao, Wei-Zhong Guo, Xue-Jun Pan, Min-Yi Pan, Hou-Lan Xiao, Jin-Lin Zhu, Long-Yao Wu, Zu-Lin Huang
OBJECTIVE: To investigate the risk factors for the development of congenital anal atresia in neonates. METHODS: A total of 70 neonates who were admitted to 17 hospitals in Foshan, China from January 2011 to December 2014 were enrolled as case group, and another 70 neonates who were hospitalized during the same period and had no anal atresia or other severe deformities were enrolled as control group. Univariate and multivariate logistic regression analyses were used to investigate the risk factors for the development of congenital anal atresia...
June 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27172856/risk-of-congenital-anomalies-after-exposure-to-asthma-medication-in-the-first-trimester-of-pregnancy-a-cohort-linkage-study
#14
E Garne, A Vinkel Hansen, J Morris, S Jordan, K Klungsøyr, A Engeland, D Tucker, D S Thayer, G I Davies, A-M Nybo Andersen, H Dolk
OBJECTIVE: To examine the effect of maternal exposure to asthma medications on the risk of congenital anomalies. DESIGN: Meta-analysis of aggregated data from three cohort studies. SETTING: Linkage between healthcare databases and EUROCAT congenital anomaly registries. POPULATION: 519 242 pregnancies in Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010). METHODS: Exposure defined as having at least one prescription for asthma medications issued (Wales) or dispensed (Norway, Denmark) from 91 days before to 91 days after the pregnancy start date...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27160889/omphalocele-exstrophy-imperforate-anus-spinal-defects-complex-associated-malformations-in-12-new-cases
#15
Michael Rudolf Mallmann, Heiko Reutter, Annette Margarete Müller, Annegret Geipel, Christoph Berg, Ulrich Gembruch
OBJECTIVE: The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias complex with in most cases unknown etiology. Due to the rarity of the disease, no large series exist that describe the prenatal spectrum of disease or additional malformations. METHODS: In this study, we present the prenatal findings in a series of 12 cases. RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery...
2017: Fetal Diagnosis and Therapy
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/27081429/a-very-rare-cause-of-anal-atresia-currarino-syndrome
#17
Sevgi Buyukbese Sarsu, Mehmet Ergun Parmaksiz, Esra Cabalar, Ali Karapur, Cihat Kaya
Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities...
May 2016: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/27028275/thinking-of-vacterl-h-rule-out-fanconi-anemia-according-to-phenos
#18
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/26929876/neonate-with-vacterl-association-and-a-branchial-arch-anomaly-without-hydrocephalus
#19
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/26902368/rectal-atresia-and-anal-stenosis-the-difference-in-the-operative-technique-for-these-two-distinct-congenital-anorectal-malformations
#20
V A Lane, R J Wood, C Reck, C Skerritt, M A Levitt
Rectal atresia and anal stenosis are rare forms of anorectal malformations. The aim of the definitive surgical repair in such cases is to preserve the anal canal, the dentate line, and the sphincter complex. We present a case of rectal atresia and anal stenosis to demonstrate the differences in the operative repair. The techniques described leave the anterior wall of the very distal anal canal untouched in both rectal stenosis and anal atresia; however, the dissection of the rectum differs. The atretic rectum in rectal atresia is mobilized and sutured to the anal canal circumferentially...
April 2016: Techniques in Coloproctology
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