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Imperforate anus

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https://www.readbyqxmd.com/read/28286566/gastrointestinal-manifestations-of-mitochondrial-disorders-a-systematic-review
#1
REVIEW
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#2
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28237945/rare-association-of-congenital-penile-urethrocutaneous-fistula-with-y-type-urethral-duplication
#3
Ashok Kumar Gupta, Manoj Kumar, Kawaljit Singh, Ashok Kumar Sokhal
A 24-year-old man presented with symptoms of difficulty in passage of urine, mixed with gas and stool from penoscrotal junction since birth. He had a history of surgery (posterior sagittal anorectoplasty) for imperforate anus in first week of his life. On physical examination, external meatus was adequate with small 5×5 mm fistulous opening noted at penoscrotal junction with normal anal tone and opening. On evaluation with retrograde urethrography, voiding cystourethrogram, cystoscopy and barium enema, he was found to have penile urethrocutaneous fistula of 0...
February 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#4
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28127784/changes-in-the-distance-between-the-distal-rectal-pouch-and-perineum-from-the-birth-day-to-the-next-day-in-neonates-with-an-imperforate-anus
#5
Takahiro Hosokawa, Yoshitake Yamada, Yumiko Sato, Yutaka Tanami, Yujiro Tanaka, Hiroshi Kawashima, Eiji Oguma
OBJECTIVES: To evaluate changes in the distance between the distal rectal pouch and the perineum (pouch-perineum distance) from the birth day to the next day and to determine which day is better for diagnosis of a low-type imperforate anus in neonates. METHODS: We reviewed medical records at our hospital from May 2003 to August 2015 and identified 9 neonates with a radiographically and surgically proven low-type imperforate anus and 9 with high/intermediate types of imperforate anus who had undergone sonography on both the birth day and the next day before the first surgical treatment...
January 27, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28087137/nos-interacting-protein-nosip-is-increased-in-the-colon-of-patients-with-hirschsprung-s-disease
#6
Anne-Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Voltage-dependent K(+) channels (Kv channels) participate in electrical rhythmicity and smooth muscle responses and are regulated by excitatory and inhibitory neurotransmitters. Kv channels also participate in the interstitial cell of Cajal (ICC) and smooth muscle cell (SMC) responses to neural inputs. The Kv family consists of 12 subfamilies, Kv1-Kv12, with five members of the Kv7 family identified to date: Kv7.1-Kv7.5. A recent study identified the potassium channel Kv7.5 as having a role in the excitability of ICC-IM in the mouse colon...
January 3, 2017: Journal of Pediatric Surgery
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/28054444/heterozygous-pathogenic-variant-in-dact1-causes-an-autosomal-dominant-syndrome-with-features-overlapping-townes-brocks-syndrome
#8
Bryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, Mingma D Sherpa, Sander M Houten, Marko E Horb, Eric E Schadt
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419(*) variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/27916369/expression-of-connexin-26-and-connexin-43-is-reduced-in-hirschsprung-s-disease
#9
David Coyle, Brian Doyle, Justin M Murphy, Anne Marie O'Donnell, John Gillick, Prem Puri
BACKGROUND: Despite having an optimal pull-through operation, some children with Hirschsprung's disease (HSCR) continue to experience persistent bowel symptoms. Coordinated colonic electrical activity depends on intercellular communication between the enteric nerves, interstitial cells of Cajal (ICCs), smooth muscle cells, and fibroblast-like (platelet-derived growth factor receptor-alpha-positive) cells. Gap junctions are low-resistance channels composed of connexin (Cx) proteins which couple cells electrically and chemically...
November 2016: Journal of Surgical Research
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#10
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/27896155/colonic-atresia-association-with-other-anomalies
#11
Khaled M El-Asmar, Mohammed Abdel-Latif, Abdel-Hamid A El-Kassaby, Mohamed H Soliman, Mosad M El-Behery
BACKGROUND: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. MATERIALS AND METHODS: This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. RESULTS: Twelve patients were enrolled in this study. The atresia was of type I in one case, type II in four cases, type IIIa in six cases, type IV in one case...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27887934/currarino-syndrome-in-a-fetus-infant-child-and-adolescent-spectrum%C3%A2-of-clinical-presentations-and-imaging-findings
#12
REVIEW
Pablo Caro-Domínguez, Juan Bass, Julie Hurteau-Miller
In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation...
February 2017: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/27749617/pygopagus-conjoined-twins-a-neurophysiologic-intraoperative-monitoring-schema
#13
Barrett P Cromeens, Jennifer L McKinney, Jeffrey R Leonard, Lance S Governale, Judy L Brown, Christina M Henry, Marc A Levitt, Richard J Wood, Gail E Besner, Monica P Islam
Conjoined twins occur in up to 1 in 50,000 live births with approximately 18% joined in a pygopagus configuration at the buttocks. Twins with this configuration display symptoms and carry surgical risks during separation related to the extent of their connection which can include anorectal, genitourinary, vertebral, and neural structures. Neurophysiologic intraoperative monitoring for these cases has been discussed in the literature with variable utility. The authors present a case of pygopagus twins with fused spinal cords and imperforate anus where the use of neurophysiologic intraoperative monitoring significantly impacted surgical decision-making in division of these critical structures...
March 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27722897/magnetic-resonance-imaging-mri-assisted-laparoscopic-anorectoplasty-for-imperforate-anus-a-single-center-experience
#14
Tina T Thomas, Daniel H Teitelbaum, Ethan A Smith, Jonathan R Dillman, Ranjith Vellody, Marcus D Jarboe
PURPOSE: Surgical procedures for high imperforate anus have ranged from the posterior sagittal anorectoplasty (PSARP) to laparoscopic-assisted anorectoplasty (LAARP). PSARP bisects the sphincter muscle complex, introducing muscle injury and scarring. LAARP uses a straight trocar to traverse an often non-linear sphincter muscle complex. MRI-assisted LAARP (MRI-LAARP) guides the neorectum precisely through the middle of the entire sphincter complex along its trajectory. We present our experience utilizing MRI intraoperatively during LAARP...
January 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/27610944/differentiating-closed-versus-open-spinal-dysraphisms-on-fetal-mri
#15
Usha D Nagaraj, Karin S Bierbrauer, Jose L Peiro, Beth M Kline-Fath
OBJECTIVE: The purpose of this study is to identify differences in findings between open and closed spinal dysraphisms seen on fetal MR images. MATERIALS AND METHODS: A single-institution retrospective analysis of fetal MR images for spinal dysraphism was performed. Postnatal images and clinical and operative reports were reviewed. RESULTS: Sixteen fetuses with postnatally confirmed closed spinal dysraphisms were included. Of these, 25% (4/16) had posterior fossa anomalies, 12...
December 2016: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/27567306/altered-expression-of-retinoblastoma-1-in-hirschsprung-s-disease
#16
Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: The retinoblastoma 1 (RB1) tumor suppressor is a critical regulator of cell cycle progression and development, and has been widely documented to be inactivated in human cancer. A recent study using RB1 knockout mice suggested a new role for RB1 in the normal regulation of the enteric nervous system (ENS), because of knockout mice showing ENS abnormalities and severe intestinal dysmotility. The aim of our study was to investigate the expression of RB1 in the normal human colon and in Hirschsprung's disease (HD)...
November 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27450347/neonate-with-imperforate-anus-and-meconium-streak-along-the-penile-shaft
#17
Robbie Hurtt, Christopher Bean, David Sawaya, Edwin Harmon
We present a neonatal male with a rectopenile fistula in the setting of imperforate anus. Reported cases of fistulae exiting on the penile shaft are exceedingly rare. The patient had a diverting colostomy performed within the first 48 hours of life and imaging later revealed no communication with the urinary tract. At 4 months of age the child was brought to the operative suite for penile exploration and posterior sagittal anorectoplasty. The patient's colostomy was reversed 4 months later. We discuss the embryology and management of imperforate anus as well as literature review...
July 20, 2016: Urology
https://www.readbyqxmd.com/read/27430863/decreased-expression-of-nedl2-in-hirschsprung-s-disease
#18
Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: NEDD4-like ubiquitin protein ligase 2 (NEDL2) plays an important role in many physiological and pathological processes. NEDL2 is a positive regulator of GDNF/Ret signaling during enteric neurogenesis. Mice lacking NEDL2 exhibit decreased numbers of enteric neurons, progressive bowel dysmotility and intestinal hypoganglionosis. We designed this study to investigate the expression of NEDL2 in the normal human colon and in HSCR. METHODS: HSCR tissue specimens (n=10) were collected at the time of pull-through surgery and divided into aganglionic and ganglionic segments...
November 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27376913/sacral-nerve-stimulation-lead-implantation-in-partial-sacral-agenesis-using-intra-operative-computerized-tomography
#19
J Castillo, L Cristóbal, J Alonso, R Martín, D Suárez, M A Martínez, C Cagigas, M Gómez-Ruiz, M Gómez-Fleitas, A Vázquez-Barquero
AIM: Sacral nerve stimulation (SNS) lead implantation is a straightforward procedure for individuals with intact spinal vertebrae. When sacral anomalies are present, however, the anatomical and radiological reference points used for the accurate placement of the electrode may be absent or difficult to identify. METHOD: We describe an innovative surgical procedure of percutaneous nerve evaluation for SNS in a patient with faecal incontinence secondary to a congenital imperforate anus and partial sacral agenesis using a surgical imaging platform (O-arm system) under neurophysiological control...
September 2016: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/27297039/decreased-nav1-9-channel-expression-in-hirschsprung-s-disease
#20
Anne-Marie O'Donnell, David Coyle, Prem Puri
AIM: Voltage-gated sodium channel subtype 9 (Nav1.9) are expressed in dorsal root ganglion neurons and are known to be involved in pain during inflammation. Animal studies have reported Nav1.9 channel expression in myenteric intrinsic primary afferent neurons (IPANs). More recently, a study involving Nav1.9 knockout mice showed clear evidence of colonic dysmotility. However, there are no data regarding the expression of these channels in the human intestine, thus, the aim of our study was to determine Nav1...
September 2016: Journal of Pediatric Surgery
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