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Anorectal malformation

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https://www.readbyqxmd.com/read/29326865/rectal-atresia-and-congenital-hypothyroidism-an-association-or-coincidence
#1
Feride Mehmetoğlu
Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.
January 2018: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#2
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
January 8, 2018: Surgery
https://www.readbyqxmd.com/read/29310616/partial-trisomy-16q21%C3%A2-qter-due-to-an-unbalanced-segregation-of-a-maternally-inherited-balanced-translocation-46-xx-t-15-16-p13-q21-a-case-report-and-review-of-literature
#3
R Mishra, C S Paththinige, N D Sirisena, S Nanayakkara, U G I U Kariyawasam, V H W Dissanayake
BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of partial trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29307282/foxd3-foxd4-is-required-for-the-development-of-hindgut-in-the-rat-model-of-anorectal-malformation
#4
Luo-Jia Wang, Wei-Lin Wang, Hong Gao, Yu-Zuo Bai, Shu-Cheng Zhang
Congenital anorectal malformation is the most common digestive tract malformation in newborns. It has been reported that FOXD3/FOXD4, a forkhead transcription factor, regulates the generation, migration, and differentiation of neural crest cells. However, whether FOXD3/FOXD4 takes part in anorectal malformation remains unclear. In the present study, we used ethylene thiourea to induce the animal models of anorectal malformation in rat embryos and to interrogate the role of FOXD3/FOXD4 in anorectal malformation pathogenesis...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29250692/esophageal-atresia-with-distal-fistula-unusual-case-series-considerations-related-to-epidemiological-aspects-malformative-associations-and-prenatal-diagnosis
#5
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/29237507/epidemiologic-analysis-of-families-with-isolated-anorectal-malformations-suggests-high-prevalence-of-autosomal-dominant-inheritance
#6
Gabriel C Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky, Heiko Reutter
BACKGROUND: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM...
December 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29237130/laparoscopic-appendicostomy-low-profile-balloon-button-for-antegrade-enemas-in-children
#7
David F Grabski, Yinin Hu, Sara K Rasmussen, Eugene D McGahren, Jeffrey W Gander
INTRODUCTION: The Malone appendicostomy is a continent channel used for antegrade enemas. It requires daily cannulation and is susceptible to stenosis. We use an indwelling low-profile balloon button tube inserted through the appendix into the cecum for antegrade enemas. We hypothesized that this method is effective at managing constipation or fecal incontinence and is associated with a low rate of stenosis. METHODS: Children who underwent laparoscopic appendicostomy balloon button placement at our institution from January 2011 to April 2017 were identified...
December 13, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29229485/the-position-of-the-anal-dimple-in-newborns-and-infants-with-anorectal-malformations-and-its-correlation-with-the-normal-anal-position
#8
Jigar N Patel, Amit Kumar, Partap Singh Yadav, Rajiv Chadha, Vikram Datta, Subhasis Roy Choudhury
BACKGROUND/PURPOSE: The anal position index (API) defines the normal anal position as the ratio of fourchette-anal distance to fourchette-coccyx distance for females and the scrotum-anal distance to scrotum-coccyx distance for males. In this study, measurement of the API in newborns and infants with anorectal malformations (ARM), using the center of the midline anal dimple (AD) to represent the center of the proposed neoanus, was performed to assess whether or not the AD was located in a significantly abnormal position as correlated with the normal anal position...
November 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29217941/intestinal-obstruction-in-early-neonatal-period-a-3-year-review-of-admitted-cases-from-a-tertiary-hospital-in-ethiopia
#9
Mustefa Mohammed, Tadesse Amezene, Moges Tamirat
Background: Failure to pass meconium by a full-term neonate within the first 24 hours should raise a suspicion of bowel obstruction. The objective of this study was to determine pattern of presentation, diagnosis and outcome of management of intestinal obstruction in the early neonatal period in the Neonatal Care Unit of Tikur Anbessa Specialized Hospital in Addis Ababa, Ethiopia. Methods: Retrospective chart review of admitted cases from January 2011 to December 2013 was done...
July 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29205700/perineal-lipoma-with-anorectal-malformation-report-of-two-cases-and-review-of-the-literature
#10
Naoki Hashizume, Kimio Asagiri, Suguru Fukahori, Naoko Komatsuzaki, Minoru Yagi
No abstract text is available yet for this article.
December 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29198537/healthcare-utilization-and-comorbidities-associated-with-anorectal-malformations-in-the-united-states
#11
Karlo Kovacic, Sravan R Matta, Katja Kovacic, Casey Calkins, Ke Yan, Manu R Sood
OBJECTIVE: To determine nationwide prevalence and healthcare utilization in children with anorectal malformations and associated anomalies over a 6-year period. STUDY DESIGN: We used the Kids' Inpatient Database for the years 2006, 2009, and 2012 for data collection. International Classification of Diseases, Ninth Revision codes were used to identify patients with anorectal malformations and associated anomalies. RESULTS: A total of 2396 children <2 years of age with anorectal malformations were identified using weighted analysis; 54...
November 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29173778/assessing-the-long-term-manometric-outcomes-in-patients-with-previous-laparoscopic-anorectoplasty-larp-and-posterior-sagittal-anorectoplasty-psarp
#12
Patrick Ho Yu Chung, Carol Wing Yan Wong, Kenneth Kak Yuen Wong, Paul Kwong Hang Tam
BACKGROUND/PURPOSE: The objective of this study is to compare the long term manometric outcomes in patients with previous laparoscopic anorectoplasty (LARP) and posterior sagittal anorectoplasty (PSARP). METHODS: This is a single-centered retrospective study and the participants were born with various types of anorectal malformation. Manometric assessment was carried out with high-resolution anorectomanometry performed as a day procedure. In addition, a seven-itemed bowel function score (BFS) was utilized to assess the functional outcomes...
November 22, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29127963/minimally-invasive-surgery-in-the-management-of-anorectal-malformations
#13
REVIEW
Sarah B Cairo, David H Rothstein, Carroll M Harmon
Imperforate anus, a variant of anorectal malformation (ARM), is a common congenital anomaly requiring surgical attention in the newborn period. It may present with a variety of anatomic configurations, largely dependent on the presence and location of a fistula. The location (or characteristics) of a fistula, which usually lies between the gastrointestinal tract and the genitourinary tract or perineum, is often used in determining the type and timing of operative management. This article discusses the work-up and management, modes of treatment and their postoperative outcomes, and continued controversy regarding the use of minimally invasive surgical approaches to ARM...
December 2017: Clinics in Perinatology
https://www.readbyqxmd.com/read/29110831/long-term-bowel-function-quality-of-life-and-sexual-function-in-patients-with-anorectal-malformations-treated-during-the-psarp-era
#14
Kristiina Kyrklund, Mikko P Pakarinen, Risto J Rintala
Anorectal malformations are an important group of congenital anomalies that vary widely in their anatomical characteristics and complexity. Understanding the long-term functional outcomes after modern treatments, and how these compare to the general population, are essential for ensuring that patients receive optimal, evidence-based care. With increasing appreciation of the wider impact of the illness on patients and their families, minimizing social disability from fecal incontinence and enabling normal social integration from the outset are key management concerns...
October 2017: Seminars in Pediatric Surgery
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
#15
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/29094201/a-review-of-genetic-factors-contributing-to-the-etiopathogenesis-of-anorectal-malformations
#16
REVIEW
Kashish Khanna, Shilpa Sharma, Noel Pabalan, Neetu Singh, D K Gupta
BACKGROUND: Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. MATERIALS AND METHODS: Literature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included...
November 1, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29079318/transitions-in-care-from-pediatric-to-adult-general-surgery-evaluating-an-unmet-need-for-patients-with-anorectal-malformation-and-hirschsprung-disease
#17
Sarah B Cairo, Priscilla P L Chiu, Roshni Dasgupta, Karen A Diefenbach, Allan M Goldstein, Nicholas A Hamilton, Andrea Lo, Michael D Rollins, David H Rothstein
BACKGROUND: The provision of timely and comprehensive transition of care from pediatric to adult surgical providers for patients who have undergone childhood operations remains a challenge. Understanding the barriers to transition from a patient and family perspective may improve this process. METHODS: A cross-sectional survey was conducted of patients with a history of anorectal malformation (ARM) or Hirschsprung Disease (HD) and their families. The web-based survey was administered through two support groups dedicated to the needs of individuals born with these congenital abnormalities...
October 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29062381/a-rare-case-of-pulmonary-artery-sling-with-the-vacterl-association-in-a-20-month-old-infant
#18
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/29059696/social-morbidity-in-relation-to-bowel-functional-outcomes-and-quality-of-life-in-anorectal-malformations-and-hirschsprung-s-disease
#19
Kristiina Kyrklund, Malla I Neuvonen, Mikko P Pakarinen, Risto J Rintala
No abstract text is available yet for this article.
October 23, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29027581/unusual-case-of-coronal-complete-bladder-duplication-associated-with-rectoprostatic-fistula-to-duplicated-prostatic-urethra
#20
Jennifer Y Lam, Steven R Lopushinsky, Kyle C Kurek, Paul Beaudry
Anorectal malformations are a common congenital anomaly, while bladder duplication is rare. Bladder duplications are classified as complete or incomplete and sagittal or coronal. We present a rare case of coronal complete bladder duplication with rectoprostatic fistula to the blind ending prostatic urethra of the duplicated bladder.
October 13, 2017: Pediatric Surgery International
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