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Ano-rectal malformation

Ahmed Hosni Morsi, Hossam Rashad Omar, Ahmed Osama, Ahmed Refaat Khodary
BACKGROUND: Neonatal pneumoperitoneum is attributed, in most of the reported cases, to necrotising enterocolitis (NEC). There are also other causes leading to free intraperitoneal air. The aim of this study is to describe the clinical spectrum, causes, management and outcome of neonates admitted with pneumoperitoneum in the paediatric surgery unit of a university hospital. SUBJECTS AND METHODS: This retrospective study included neonates having radiographic evidences of pneumoperitoneum from 2012 to the end of 2014...
July 2016: African Journal of Paediatric Surgery: AJPS
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
Jacques Birraux, Faustin Tambo Mouafo, Sophie Dahoun, Veronique Tardy, Yves Morel, Pierre Mouriquand, Claude Le Coultre, Pierre-Yves Mure
BACKGROUND: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS) in girls with congenital adrenal hyperplasia (CAH). For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering. PATIENTS AND METHODS: We report the procedure of a laparoscopic-assisted vaginal pull-through for supra-sphincteric UGS in a 5-year-old girl with CAH...
July 2015: African Journal of Paediatric Surgery: AJPS
Anthony Wemakor, Karen Casson, Ester Garne, Marian Bakker, Marie-Claude Addor, Larraitz Arriola, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Vera Nelen, Mary O'Mahoney, Anna Pierini, Anke Rissmann, David Tucker, Breidge Boyle, Lolkje de Jong-van den Berg, Helen Dolk
Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks carefully. The objective of this study was to determine the specificity of association between first trimester exposure to SSRIs and specific CHD and other congenital anomalies (CA) associated with SSRI exposure in the literature (signals). A population-based case-malformed control study was conducted in 12 EUROCAT CA registries covering 2...
November 2015: European Journal of Epidemiology
A Yozgat, S Altinbas, A Altinbas, E Altiparmak
No abstract text is available yet for this article.
January 2015: Acta Gastro-enterologica Belgica
S Mantoo, G Meurette, V Wyart, J Hardouin, C Cretolle, C Capito, S Sarnacki, G Podevin, P-A Lehur
AIM: The impact of anorectal malformation (ARM) on bowel function and social, educational and occupational end-points was investigated in adult patients entered on a national database. METHOD: Data from a national database of adult patients operated on between 1962 and 1999 for ARM were analysed. The database Malformations Ano-rectales et Pelviennes rares (MAREP) was part of a common information system, CEMARA, on rare congenital disorders. A self-administered questionnaire regarding bowel function, academic qualifications, employment and family status was mailed to patients...
June 2013: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
Guglielmo Paradies, Francesca Zullino, Antonio Orofino, Samuele Leggio
BACKGROUND: Sacrococcygeal teratomas are the most common and best known extragonadal teratomas in neonates and infants, but they sometimes present unique, distinctive features unlike those commonly described, that can be considered exceptional and noteworthy. MATERIAL AND METHODS: The Authors reviewed the most significant (Table I, II) clinical, laboratory, radiological and pathologic findings, surgical procedure, and early and long-term results in 5 children, 2 males and 3 females, suffering from sacrococcygeal teratomas...
May 2013: Annali Italiani di Chirurgia
Subhramoy Chaudhury, Indranil Chatterjee, Samikshan Dutta, Lalitkumar Vaid, Kanchan Mukhopadhyay
BACKGROUND: Congenital pouch colon, also known as congenital short colon or "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases reported from elsewhere. CASE PRESENTATION: A 1-day old neonate was presented with abdominal distension due to lack of passage of meconium...
December 2010: Iranian Journal of Pediatrics
Herbert A Obu, Josephat M Chinawa, Nwachinemere D Uleanya, Gilbert N Adimora, Ikechukwu E Obi
BACKGROUND: Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. METHODS: The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis...
2012: BMC Research Notes
C De Vos, M Arnold, D Sidler, S W Moore
INTRODUCTION: Laparoscopic-assisted ano-rectoplasty (LAARP) has gained popularity since its introduction in 2000. Further evidence is needed to compare its outcome with the gold standard of posterior sagittal ano-rectoplasty (PSARP). METHOD: A retrospective review of patients presenting with ano-rectal malformation (ARM) in the period 2000 - 2009. Demographics, associated abnormalities, and operative and post-operative complications were assessed. The functional outcome in children older than 3 years was assessed, applying the Krickenbeck scoring system and, where possible, by interviewing parents...
February 2011: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
Ma'in Masarweh
INTRODUCTION: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported. CASE PRESENTATION: A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day...
2011: Journal of Medical Case Reports
Marko Lehmann, Andreas Stallmach
Blood in faeces or stains of blood on the surface or toilet paper are common problems among all age groups. Too few patients seek medical consultation because of these symptoms. The differential diagnosis is quite large. Most cases are caused by benign anorectal diseases like hemorrhoids. On the other hand neoplasias of the anus and intestine or inflammatory bowel disease are important diagnoses to be considered. We emphasize that every patient should be seen by a doctor and endoscopic investigation should be discussed...
October 2010: Medizinische Monatsschrift Für Pharmazeuten
Praveen Mathur, Atulya K Saxena, Manish Bajaj, Tushar Chandra, Naveen C Sharma, Anita Simlot, Amulya K Saxena
BACKGROUND: Congenital pouch colon (CPC) is a rare form of high ano-rectal malformation (ARM) in which part of or the entire colon is replaced by a pouch with a fistula to the genito-urinary tract. According to the Saxena-Mathur classification CPC is divided into five types. Although plain abdominal radiographs are taken in infants with suspicion of CPC to detect large dilatation of the pouch, the determination of the type of CPC is made during surgical exploration. Since large variations in the length of normal colon are present in the various types, management strategy options can be determined only at the time of surgery...
October 2010: Pediatric Radiology
Nathaniel H Robin, Katherine D Rutledge, Peter D Ray, John H Grant
The Kapur-Toriello syndrome (KTS) is a rare multiple congenital anomaly syndrome, with presumed autosomal recessive inheritance based on the initial report of affected siblings. Here we report on a female with multiple anomalies, including cleft lip and palate, coloboma, mental retardation with cerebral atrophy, and imperforate anus who, upon re-evaluation at 30 months, was recognized to have a columella that extended below the nares. This distinctive finding prompted the diagnosis of KTS. This is the 5th report of KTS, and the second female...
April 2010: American Journal of Medical Genetics. Part A
Ashokanand Thakur, N P Dhende, S B Mane, Himanshu Acharya
The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation. The patient had imperforate anus and a recto-prostatic fistula with rectal diaphragm. We managed the case by an ano-rectal pull through with excision of the diaphragm.
January 2009: Journal of Indian Association of Pediatric Surgeons
Caterina Grano, Dalia Aminoff, Fabio Lucidi, Cristiano Violani
PURPOSE: The aim of the present study was to analyze disease-specific quality of life, as assessed by the Hirsch-sprung Disease/Anorectal Malformation Quality of Life (HAQL) questionnaire, in children and adults with ano-rectal malformations (ARM). METHODS: As much as 175 children and 62 adults who were members of the Italian Association for Anorectal Malformations were asked to complete the Italian version of the HAQL questionnaire developed for this study. For children under 16 years of age, mothers were asked to fill up the questionnaires...
February 2010: Pediatric Surgery International
Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse
Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadias). We report here on four de novo cases having 2.5-6.1 Mb deletions involving 15q24: one 15q23q24.2 (Patient 1) and three 15q24...
December 2009: American Journal of Medical Genetics. Part A
O Ndour, A Faye Fall, D Alumeti, K Gueye, I Amadou, M Fall, G Ngom, M Ndoye
OBJECTIVES: To determine neonatal mortality factors at the paediatric surgeon service in Aristide Le Dantec University Hospital in Dakar. PATIENTS AND METHODS: It is a retrospective study of 245 cases collected between January 1997 and December 2006 at the paediatric surgeon service, the surgery emergency and intensive care unit of Aristide Le Dantec University Hospital. We studied the age, sex, geographical origins, consultation time, weight at birth, evacuation means to the reference medical structure, consultation motives, clinical diagnosis, associated malformations, treatment methods, surgery follow ups and death causes...
2009: Le Mali Médical
Anna Materna-Kiryluk, Katarzyna Wiśniewska, Magdalena Badura-Stronka, Jan Mejnartowicz, Barbara Wieckowska, Anna Balcar-Boroń, Mieczyslawa Czerwionka-Szaflarska, Elzbieta Gajewska, Urszula Godula-Stuglik, Marian Krawczyński, Janusz Limon, Jozef Rusin, Henryka Sawulicka-Oleszczuk, Ewa Szwalkiewicz-Warowicka, Mieczyslaw Walczak, Anna Latos-Bieleńska
Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age...
January 2009: Paediatric and Perinatal Epidemiology
A I Oyati, S S Danbauchi, E A Ameh, P M Mshelbwala, M A Anumah, G O Ogunrinde, J O Anyiam, P C Azuh
BACKGROUND: Congenital cardiac anomalies may co-exist with non-cardiac congenital malformations and, for those requiring surgical correction, there can be an anaesthetic risk. AIM: To estimate the burden of congenital heart disease (CHD) in children with surgically correctable non-cardiac congenital malformations. PATIENTS/METHODS: Records of 120 children aged between 1 week and 11 years [mean (SD) 0.6 (1.5) years] undergoing corrective surgery for non-cardiac congenital malformations were examined...
March 2009: Annals of Tropical Paediatrics
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