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Hirschprung' disease

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
Bindey Kumar, Amit Kumar Sinha, Prem Kumar, Anil Kumar
Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease...
October 2016: Journal of Indian Association of Pediatric Surgeons
N R Chevalier, E Gazguez, L Bidault, T Guilbert, C Vias, E Vian, Y Watanabe, L Muller, S Germain, N Bondurand, S Dufour, V Fleury
Neural crest cells (NCCs) are a population of multipotent cells that migrate extensively during vertebrate development. Alterations to neural crest ontogenesis cause several diseases, including cancers and congenital defects, such as Hirschprung disease, which results from incomplete colonization of the colon by enteric NCCs (ENCCs). We investigated the influence of the stiffness and structure of the environment on ENCC migration in vitro and during colonization of the gastrointestinal tract in chicken and mouse embryos...
February 18, 2016: Scientific Reports
Parul Jain, S M Rajeshwari, Jagjit Singh, Tarun Kumar, Sandeep P Agarwal, Prasenjit Das
BACKGROUND: Although the most common cause of neonatal intestinal pseudoobstruction (IP) is Hirschprungs disease, rarely myofibrillar myopathy can cause the same. CASE REPORT: This 31+4/7 male infant at autopsy had marked narrowing of the jejunum (0.9 cm long), and colon (7.0 cm long) markedly narrowed segments of the jejunum and large intestine, were noted respectively. Sections from these segments showed eosinophilic periodic acid Schiff stain and desmin positive cytoplasmic inclusion bodies in the myocytes...
2016: Fetal and Pediatric Pathology
Cristina Elena Singer, Carmen Simona Coşoveanu, Mircea Ovidiu Ciobanu, George Alin Stoica, Ileana Puiu, Corina Lavinia Gruia, Liliana Streba, Cristian Constantin, Carmen Daniela Neagoe
Failure of neural crest cells to migrate from neural crests during intrauterine development result in partial or total aganglionosis of the colon in newborn. Hirschprung's disease (HD) represents the clinical manifestation of this pathogenic process, currently accounting for the majority of lower intestinal obstruction in the first period of life. Our aim was to present a series of three cases presenting to our tertiary care center with a range of symptoms, all benefiting from surgery and consequent pathology examination of biopsy or resection pieces...
2015: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Xue Xia, Ning Li, Jia Wei, Wen Zhang, Donghai Yu, Tianqi Zhu, Jiexiong Feng
INTRODUCTION: This study aims to describe laparoscopic reoperation (LSR) and compare its outcomes with transabdominal reoperation (TAR) for treating Hirschsprung's disease (HD). PATIENTS AND METHODS: Eighteen patients with HD underwent reoperation for recurring constipation due to residual aganglionosis and transition zone pathology after an initial transanal procedure (LSR, n=10; TAR, n=8). Preoperative, operative and postoperative data were collected through patient follow-ups ranging from 13 to 75months to compare operative characteristics and postoperative outcomes between the two groups...
April 2016: Journal of Pediatric Surgery
Maryam Khazdouz, Majid Sezavar, Bahareh Imani, Hossein Akhavan, Alireza Babapour, Gholamreza Khademi
BACKGROUND: Bowel function has been reported to be adversely affected following surgery in cases of Hirschsprung. We retrospectively studied both the clinical outcome and bowel function status following surgery in patients diagnosed with Hirschprung's disease (HD). 161 cases, who underwent pull-through operations for HD in Sheikh Pediatric Tertiary Centre, Mashhad, Iran. The specified time bracket spanned between 2006 and 2011. MATERIALS AND METHODS: Data was extracted from Health Information System with the aim of investigating patients for both short and long-term gastrointestinal (GI) complications after surgery bases in addition to the concurrence of any associated anomalies...
April 2015: African Journal of Paediatric Surgery: AJPS
Ambreen Asim, Ashok Kumar, Srinivasan Muthuswamy, Shalu Jain, Sarita Agarwal
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article...
2015: Journal of Biomedical Science
David J Wilkinson, George S Bethell, Rajeev Shukla, Simon E Kenny, David H Edgar
Enteric nervous system progenitor cells isolated from postnatal human gut and cultured as neurospheres can then be transplanted into aganglionic gut to restore normal patterns of contractility. These progenitor cells may be of future use to treat patients with Hirschprung's disease, a congenital condition characterized by hindgut dysmotility due to the lack of enteric nervous system ganglia. Here we demonstrate that progenitor cells can also be isolated from aganglionic gut removed during corrective surgery for Hirschsprung's disease...
2015: PloS One
Ayşe Karaaslan, Ahmet Soysal, Abdurrahman Sarmış, Eda Kepenekli Kadayifci, Kıvılcım Cerit, Serkan Atıcı, Güner Söyletir, Mustafa Bakır
Lactococcus lactis is a gram-positive coccus that is nonpathogenic in humans. Herein, we present the case of a 1-year-old boy with Down syndrome and Hirschprung's disease (HD) who developed a catheter-related bloodstream infection with L. lactis after gastrointestinal surgery. The patient had been hospitalized in the pediatric surgery unit from birth because of HD, and had undergone the Duhamel-Martin procedure which caused recurrent diarrhea episodes and feeding intolerance. On the infant's 430th day of life, he had an episode of gastroenteritis and feeding intolerance...
2015: Japanese Journal of Infectious Diseases
Leyla Cinel, Bahar Ceyran, Berrin Güçlüer
In this study we aimed to evaluate the usability of calretinin staining in the diagnosis and exclusion of HD in 36 rectal biopsies. Through immunohistochemical examination, in of a total of 21 pediatric patients in whom ganglion cells were detected in first rectal biopsies and in re-biopsies, ganglion cells were seen through nuclear and cytoplasmic staining. In the lamina propria and superficial submucosa, staining of nerve fibers was detected in a granular pattern in varying intensities. Out of a total of 5 biopsies (including one re-biopsy) of non-HD patients, where ganglion cells could not be seen, the nerve fibers were all stained...
January 2015: Pathology, Research and Practice
O B Bodnar, L I Vatamanesku, B M Bodnar, R I Sydorchuk
OBJECTIVE: To analyze our ten year experience of surgical treatment of children with chronic colonostasis of different origin. MATERIAL AND METHODS: The study covers 353 children aged from 1 day to 17 years with colonic stasis who undergo treatment at the Department of Children's Surgery, Bukovinian State Medical University, Cernăuţi, Ukraine. Study design included case history, physical examination, routine clinical and biochemical laboratory tests, endoscopy (sigmoidoscopy, colonoscopy), X-ray (irrigoscopy, irrigography, other radiopaque techniques) methods, and sphincterometry...
July 2014: Revista Medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti Din Iaş̧i
S B Patíl, S Hugar, S Patíl
BACKGROUND: Green stain is an uncommon clinical condition associated with deposition of bilirubin in the dental hard tissues. The staining of the teeth is due to hyperbilirubinemia caused by systemic conditions. CASE REPORT: The purpose of this report is to present a case of green teeth of the primary dentition in a 17-month old girl associated with hydrocephalus and Hirschprung's disease. CONCLUSION: The clinical characteristics of the teeth may help in the diagnosis of current or past systemic diseases...
July 2014: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
John Massie, Lynn Gillam
Congenital central hypoventilation syndrome (CCHS) is a well-recognized disorder of the autonomic nervous system caused by mutations in the PHOX2B gene. The most characteristic feature is failure of ventilatory control, resulting in the need for respiratory support while asleep, and in some cases when awake also. Most cases present in infancy or early childhood. Technological advances allow patients with mild to moderate phenotypesto receive adequate support by non-invasive ventilation (NIV), or diaphragm pacing (or combination of the two) avoiding the need for long-term ventilation by tracheostomy...
May 2015: Pediatric Pulmonology
V V Kholostova, A F Dronov, A N Smirnov, D V Zalikhin, A G Mannanov, E Iu Ermolenko, L Iu Tikhomirova
It was analyzed the treatment results of 24 patients under the age of 2 years with total aganglionosis for the period from 2000 to 2013. Each of these patients underwent several surgical interventions (on the average 7.8±2.1). All children were operated radically. It was performed ileojejunorectal anastomosis at transitional fold of peritoneum in patients with concomitant short bowel syndrome. Soave's operation was done in 14 patients including by using of laparoscopic technique in 3 cases. Inflammatory complications (paraproctitis) developed in 2 children on maceration background...
2014: Khirurgiia
S B Patil, S Hugar, S Patil
BACKGROUND: Green stain is an uncommon clinical condition associated with deposition of bilirubin in the dental hard tissues. The staining of the teeth is due to hyperbilirubinemia caused by systemic conditions. CASE REPORT: The purpose of this report is to present a case of green teeth of the primary dentition in a 17-month old girl associated with hydrocephalus and Hirschprung's disease. CONCLUSION: The clinical characteristics of the teeth may help in the diagnosis of current or past systemic diseases...
July 2014: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
Girish D Bakhshi, Sachin S Shenoy, Kavita V Jadhav, Mukund B Tayade, Sunil R Patil, Chintan B Patel
The number of ileostomies created for benign diseases such as familial adenomatous polyposis and ulcerative colitis is increasing. Long-term ileostomies are prone to develop various complications over time. Ileostomy site carcinoma is a well-established complication in ulcerative colitis and familial adenomatous polyposis that have undergone total colectomy. However, no case of ileostomy site carcinoma has been described in a patient with Hirschprung's disease. We present the first case of adenocarcinoma at an ileostomy site in a patient with Hirschprung's disease with retroviral disease...
August 2, 2013: Clinics and Practice
O A Arowolo, O O Lawal, A O Adisa, V A Adetiloye, A I Afolabi, O A Sowande
BACKGROUND: Hirschsprung's disease in adulthood is very rare and is often misdiagnosed. We present four cases of adulthood Hirschsprung's disease seen in the last two decades to illustrate challenges accompanying its diagnosis and management. METHOD: This descriptive case series included cases of histologically proven Hirschsprung's seen in adulthood at the Obafemi Awolowo University Teaching Hospitals Complex in the last two decades (1991-2011). The clinical data, radiological investigations, details of surgical treatment, histological diagnosis, outcomes and complications were analyzed...
September 2013: African Journal of Medicine and Medical Sciences
M Riyad Peeraully, Joana Lopes, Ali Wright, Brian W Davies, Richard J Stewart, Shailinder S Singh, Bharat B More
INTRODUCTION: The Malone antegrade continence enema (MACE) procedure is an established treatment option for children with constipation or fecal incontinence. This study retrospectively analyses the management and outcomes of children who underwent MACE procedures at a regional pediatric surgery unit. PATIENTS AND METHODS: Children who underwent a MACE procedure in our unit between 1998 and 2012 were identified. Demographic and clinical data were obtained from contemporaneous records...
February 2014: European Journal of Pediatric Surgery
Teun J van de Ven, Cornelius E J Sloots, Marc H W A Wijnen, Roxana Rassouli, Iris van Rooij, Rene M Wijnen, Ivo de Blaauw
BACKGROUND: It has been suggested that the outcome of transanal endorectal pull-through for classic Hirschprung's disease can be improved by laparoscopically mobilizing the colon before the pullthrough. METHODS: Charts of 43 patients (2005-2009) with proven recto-sigmoid aganglionosis were retrospectively analyzed with respect to postoperative outcomes. Twenty-one had been treated with the transanal endorectal pull through (TERPT) and 22 with the laparoscopically assisted TERPT (LTERPT)...
September 2013: Journal of Pediatric Surgery
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