Read by QxMD icon Read

Anorectal Anomaly

Chen Qian, Zhongluan Wu, Roy Chun-Laam Ng, Maria-Mercè Garcia-Barceló, Zheng-Wei Yuan, Kenneth Kak Yuen Wong, Paul Kwong Hang Tam, Vincent Chi Hang Lui
In mammals, urorectal development starts at early embryonic stage, defective urorectal development results in anorectal malformations, which are common congenital developmental defects of the anus and the urethra in newborns. The etiology and embryology of the defects are still largely unknown. Platelet-derived growth factor receptor alpha (Pdgfra) is a cell surface receptor tyrosine kinase, upon binding to its ligands (Pdgfa-d), mediates intracellular signaling and regulates embryonic development. The expression of Pdgfra is tightly regulated in the developing urorectal mesenchyme, and its dysregulation is associated with urorectal defects in animals with urorectal defects...
October 15, 2018: Cell Death and Differentiation
Yi-Ming Su, Yan Lin, Shu-Qiang Chen, Hong-Yi Yang, Guo-Rong Lv, Jin-Rong Lin
OBJECTIVES: To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia. METHODS: Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20-38 weeks), including low- and high-risk populations using 2-dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum...
October 2, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Laura V Veras, Justin R Smith, Ankush Gosain
INTRODUCTION: Patients with anorectal malformations (ARM) often have associated congenital anomalies and should undergo several screening exams in the first year of life. We hypothesized that racial and socioeconomic disparities exist in the screening processes for these patients. METHODS: After IRB approval, a retrospective review of patients with ARM born between 2005 and 2016 was performed at a quaternary care children's hospital. Demographics including gender, race, insurance, and zip code were collected...
November 2018: Journal of Surgical Research
Tetsuya Ishimaru, Hiroshi Kawashima, Takahisa Tainaka, Keisuke Suzuki, Shohei Takami, Tomo Kakihara, Reiko Katoh, Tomohiro Aoyama, Hiroo Uchida, Tadashi Iwanaka
AIM: This study aimed to compare the surgical outcomes of patients with the intermediate-type imperforate anus who underwent laparoscopically assisted anorectoplasty (LAARP; L group) with those of patients who underwent sacroperineal anorectoplasty (S group). MATERIALS AND METHODS: The medical records of patients with intermediate-type imperforate anus at a single institution between April 1983 and April 2017 were retrospectively reviewed. Fecal continence was evaluated using the clinical assessment score for fecal continence developed by the Japanese Study Group of Anorectal Anomalies (maximum score, 8)...
October 2, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Simón Pedro Lubián López, Amaya Zuazo Ojeda, Gema Jimenez Gómez, Isabel Benavente Fernández
Background  Neonatal encephalopathy with seizures after general anesthesia not occurring in infants undergoing cardiac or major neurosurgery is very uncommon. An ischemic origin due to cerebral hypoperfusion from perioperative hypotension has been suggested, but there is a lack of a consensus definition for intraoperatory hypotension in neonates. Case Report  We report the first case of neonatal encephalopathy with seizures in a neonate with anorectal malformation. He underwent a colostomy with caudal anesthesia combined with light general anesthesia...
July 2018: American Journal of Perinatology Reports
Sonal Gupta, Nidhi Gupta, Pradeep Tiwari, Saji Menon, Praveen Mathur, Shanker Lal Kothari, Sivaramaiah Nallapeta, Krishna Mohan Medicherla, Prashanth Suravajhala
Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to northwestern India, specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no attempt on identifying non-coding RNAs was done. We have earlier reported CPC's rare variants from whole exome sequencing (WES) across 18 affected samples in a total of 64 subjects. A Smith⁻Waterman algorithm was used to infer a couple of lncRNAs from WES samples of CPC with predictions from the Noncode database. Further screening and quantification using polymerase chain reaction (PCR), we ascertained interactions using Micro Scale Thermophoresis (MST)...
September 17, 2018: Biomolecules
Peter Mallett, Caroline Hart, Josip Marjanovic, Damian Maguire, Majella McCullagh, Andrew Thompson
QUESTION 1: Which procedure may have been most appropriate to offer an initial clue to her diagnosis? Abdominal X-ray. Digital rectal examination. Perianal swab for streptococcal infection. Sweat test. Ultrasound scan of the abdomen. At 6 months of age, she presented with a second abscess, constipation and poor weight gain. QUESTION 2: What is the most likely diagnosis?  Congenital anorectal anomaly. Cow's milk protein allergy. Hirschsprung's disease. Immunodeficiency disorder. Infantile perianal Crohn's disease...
September 3, 2018: Archives of Disease in Childhood. Education and Practice Edition
Andrea Bischoff, John Bealer, Alberto Peña
Anorectal malformations are uncommon but complex congenital anomalies that require an individualised strategy of care for each step of the treatment process. These steps, which include preoperative evaluation, operative reconstruction, and postoperative care, are each unique and vitally important to overall patient outcomes. In this Review, we discuss some of the pivotal decisions that should be made at each stage of patient care. Through this process, we highlight some of the more controversial aspects of caring for patients with anorectal malformation and offer insights into various management philosophies...
December 2017: Lancet Child & Adolescent Health
Boris Groisman, María Paz Bidondo, Santiago Duarte, Agostina Tardivo, Pablo Barbero, Rosa Liascovich
The objective of the study is to present the frequency of congenital anomalies (CA) reported to the National Network of Congenital Anomalies of Argentina (RENAC) in the year 2016, as part of its monitoring activities. RENAC is an official, national and hospital-based surveillance system of CA. The case definition includes newborns with major structural CA, external or internal, identified from birth until hospital discharge and detected by physical examination, complementary studies, interventions or autopsy...
2018: Medicina
Michael D Cearns, Samantha Hettige, Paolo De Coppi, Dominic N P Thompson
OBJECTIVE It is well established that Currarino syndrome (CS) may be associated with spinal dysraphism. Here, the authors report on 10 CS patients with dysraphic anomalies who had undergone a combined neurosurgical and general surgical approach to repair the dysraphic anomalies and resect the presacral mass in a single operation. They discuss the spectrum of spinal dysraphism that may coexist in CS in the context of its developmental etiology. METHODS Children with a confirmed CS diagnosis who had undergone the combined operative approach were identified from a departmental database...
August 10, 2018: Journal of Neurosurgery. Pediatrics
A K Ebert, N Zwink, E Jenetzky, R Stein, T M Boemers, M Lacher, C Fortmann, F Obermayr, M Fisch, K Mortazawi, E Schmiedeke, V Eisenschmidt, M Schäfer, K Hirsch, W H Rösch, H Reutter
OBJECTIVES: To further investigate associated anomalies in EEC patients CURE-Net database was systematically screened. In literature the exstrophy-epispadias complex (EEC) comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields. PATIENTS AND METHODS: 73 prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analysed...
August 1, 2018: Urology
Madhusmita, Rohini G Ghasi, M K Mittal, Deepak Bagga
Purpose: To evaluate the spectrum of magnetic resonance imaging (MRI) findings in pediatric patients with anorectal malformation (ARM) and compare the accuracy of MRI and distal cologram (DC) findings using surgery as reference standard. Materials and Methods: Thirty pediatric patients of age less than 14 years (19 boys and 11 girls) with ARM underwent preoperative MRI. MRI images were evaluated for the level of rectal pouch in relation to the pelvic floor, fistula, and development of sphincter muscle complex (SMC)...
April 2018: Indian Journal of Radiology & Imaging
Yasmine Yousef, Angela Lee, Frehun Ayele, Dan Poenaru
BACKGROUND: The purpose of this study was to estimate the unmet burden of surgically correctable congenital anomalies in African low- and middle-income countries (LMICs). METHODS: We conducted a chart review of children operated for cryptorchidism, isolated cleft lip, hypospadias, bladder exstrophy and anorectal malformation at an Ethiopian referral hospital between January 2012 and July 2016 and a scoping review of the literature describing the management of congenital anomalies in African LMICs...
June 27, 2018: Journal of Pediatric Surgery
Shulian Chen, Rang Gao, Hong Li, Kunjie Wang
Rectourethral fistula is an uncommon but devastating condition resulting from surgery, radiation, trauma, inflammation, or occasionally anorectal anomaly. Because of involving the urinary and the digestive system, surgical repair can be challenging. More than 40 different surgical approaches were described in the literature. However, no standardized management exists due to the rarity and complexity of the problem. Spontaneous closure of fistula is rare and most cases need reconstructive procedures. Appropriate preoperative assessment is crucial for the decision of operation time and method...
July 2018: Asian Journal of Urology
Dhanya Mullassery, Roberta Iacona, Kate Cross, Simon Blackburn, Edward Kiely, Simon Eaton, Joe Curry, Paolo De Coppi
AIM OF THE STUDY: Divided colostomy (DC) has been recommended in anorectal malformations (ARMs) with previously reported advantages of decreasing overflow into the distal limb and urinary tract infections (UTIs). Skin bridge loop colostomy (LC) is a technically easier alternative without an increase in these complications. We report our institutional experience of LC in ARM. METHODS: Retrospective study (Institution-approved Clinical Audit) reviewing the clinical records of all patients with ARM undergoing stoma formation in a single UK tertiary pediatric surgical center (2000-2015)...
November 2018: Journal of Pediatric Surgery
Muhammad Umar Nisar, Nadeem Akhtar, Mudassar Fiaz Gondal, Samer Sikander, Sana Viqar
Aphallia or penile agenesis is very rare congenital anomaly of unknown cause occurring 1 in 30 million live births. Very little has been written in literature about aphallia. There is absent phallus and urethra may open abnormally in perineum or into rectum posing various surgical, social and psychological implications as the child grows. We are presenting 03 cases of aphallia with associated congenital anomalies such as unilateral renal agenesis, bilateral undescended testes, anorectal malformation and rectovasical fistula...
April 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Laura V Veras, Pranit N Chotai, Andrew Z Tumen, Ankush Gosain
BACKGROUND: Cloaca, Hirschsprung disease, and anorectal malformations (CHARM) are congenital anomalies of the hindgut. Small series have suggested that children suffering from one of these anomalies may be at risk for growth impairment. We sought to expand on these findings in a comprehensive cohort, hypothesizing that patients with Medicaid insurance or African-American (AA) race would be at higher risk for poor growth. METHODS: Following Institutional Review Board (IRB) approval, single-institution retrospective review of children with CHARM anomalies was performed (2009-2016)...
September 2018: Journal of Surgical Research
Ali Alsaadi, Hamdi A Alsufiani, Mohammad D Allugmani, Altaf Hussain Gora
Esophageal lung is a rare communicating bronchopulmonary foregut malformation in which the main bronchus arising from the trachea is absent. The affected lung is usually hypoplastic and aerated via an anomalous airway originating from the esophagus. Other anomalies such as esophageal atresia with tracheoesophageal fistula or VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association can co-exist. The initial radiographic findings may be normal, but subsequent imaging usually shows progressive and recurrent lung collapse, probably because of recurrent aspiration through the anomalous airway and poor compliance of the affected lung during breathing...
April 2018: Radiology Case Reports
L H Chowdhury, U K Nag, N A Sheuli, U Roy
Complete colorectal tubular duplication is very rare congenital anomaly and its association with anorectal malformation is extremely rare. Preoperative diagnosis is very difficult and management is also challenging. We report a case of a newborn present as a bucket handle variety of anorectal malformation which was per-operatively diagnosed as an ARM with rectal duplication. At his 14th months of age on laparotomy patient was diagnosed as a case of ARM with total colonic duplication with single appendix. We managed the case successfully without extensive bowel resection in staged procedure...
April 2018: Mymensingh Medical Journal: MMJ
C Grano, M Fernandes, S Bucci, D Aminoff, F Lucidi, C Violani
AIM: Anorectal malformations (ARMs) are rare congenital colorectal anomalies with long lasting consequences, among which faecal incontinence is one of the most relevant since it may strongly affect patients' health-related quality of life (HRQoL). Although a growing body of literature supports the importance of self-efficacy in chronic disease health outcomes, only few studies have focused on self-efficacy in ARMs and in faecal incontinence. The purpose of the present study is to examine the mediational role of self-efficacy in the path between faecal incontinence and HRQoL in patients born with ARMs...
August 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
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"