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Case Rep Surg 2019 6;2019:4036823. Epub 2019 Mar 6.

Intensive Care Department, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences and King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

Although Schistosoma infection in humans commonly involves the intestines, megacolon is a rare finding. We report a 47-year-old patient who was found to have chronic megacolon. After failing conservative management, he underwent extended hemicolectomy with colorectal anastomosis. Read More

Dig Dis Sci 2019 Apr 5. Epub 2019 Apr 5.

Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER), Division of Gastroenterology and Hepatology, Mayo Clinic, Charlton Bldg., Rm. 8-110, 200 First Street S.W., Rochester, MN, 55905, USA.

Objective: Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung's megacolon. Read More

Dis Mon 2019 Mar 2. Epub 2019 Mar 2.

Division of Gastroenterology, American University of Beirut, Beirut, Lebanon; Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, M2, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA.

Ulcerative colitis (UC) is a chronic idiopathic inflammatory bowel disorder of the colon that causes continuous mucosal inflammation extending from the rectum to the more proximal colon, with variable extents. UC is characterized by a relapsing and remitting course. UC was first described by Samuel Wilks in 1859 and it is more common than Crohn's disease worldwide. Read More

Sci Rep 2019 Jan 24;9(1):492. Epub 2019 Jan 24.

Département des Sciences Biologiques, Université du Québec à Montréal, Montréal, H3C 3P8, Québec, Canada.

Based on the bilateral relationship between the gut microbiota and formation/function of the enteric nervous system (ENS), we sought to determine whether antibiotics-induced dysbiosis might impact the expressivity of genetically-induced ENS abnormalities. To address this, we took advantage of the TashT mouse model of Hirschsprung disease, in which colonic aganglionosis and hypoganglionosis are both much more severe in males. These defects result into two male-biased colon motility phenotypes: either megacolon that is lethal around weaning age or chronic constipation in adults, the latter being also associated with an increased proportion of nitrergic neurons in the distal ENS. Read More

Neurogastroenterol Motil 2019 Apr 20;31(4):e13550. Epub 2019 Jan 20.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.

Objective: We identified a pedigree over five generations with 49 members, some of whom had chronic megacolon presenting in adolescence or adulthood. We aimed to assess the genetic cause of chronic megacolon through clinical and DNA studies.

Design: After ethical approval and informed consent, family members provided answers to standard bowel disease questionnaires, radiological or surgical records, and DNA (buccal mucosal scraping). Read More

Eur J Pediatr Surg 2019 Feb 10;29(1):97-101. Epub 2018 Dec 10.

Department of Paediatric Surgery, Noah's Ark Children's Hospital for Wales, Cardiff, United Kingdom.

Introduction:  The U.K. National Institute for Health and Clinical Excellence (NICE) specify the following indications for performing rectal biopsy to rule out Hirschsprung's disease (HSD): (1) passage of meconium > 48 hours; (2) constipation since first few weeks of life; (3) chronic abdominal distension with vomiting; (4) family history of HSD; and (5) faltering growth in addition to any other indication. Read More

World J Nucl Med 2018 Oct-Dec;17(4):249-252

Hospital de Base do Distrito Federal - Nuclear Medicine Service, Brasília, Brasil.

The aim of this study was to assess the colonic transit in children and teenagers with chronic constipation. Twenty patients from 1.5 to 16 years old were included (mean age = 6. Read More

JAAPA 2018 Dec;31(12):30-33

Dan M. Tzizik practices in the ED at Portsmouth (N.H.) Regional Hospital. Roy A. Borchardt is supervisor of advanced practice providers at M.D. Anderson Cancer Center's Department of Infectious Diseases, Infection Control and Employee Health, in Houston, Tex. The authors have disclosed no potential conflicts of interest, financial or otherwise.

Chagas disease is a parasite infection primarily transmitted to humans via the bite of triatomine insect vectors. Up to 8 million people are estimated to be infected with Chagas disease in the Americas. Patients who do not receive treatment can develop severe cardiac debility, gastrointestinal organ dysfunction, and may die. Read More

Pediatr Surg Int 2019 Feb 19;35(2):215-220. Epub 2018 Nov 19.

Japanese Study Group for Allied Disorders of Hirschsprung's Disease, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Purpose: Acquired isolated hypoganglionosis (A-IH) is a late-onset intestinal pseudo-obstruction disorder and shows different pathophysiological findings from congenital isolated hypoganglionosis (C-IH). In this study, we retrospectively examined five cases of A-IH and investigated the features of A-IH.

Methods: Five cases of A-IH were extracted from a nationwide retrospective cohort study in 10 years, from which totally 355 cases of Allied Disorders of Hirschsprung's Disease (ADHD) were collected. Read More

BMC Infect Dis 2018 Nov 3;18(1):547. Epub 2018 Nov 3.

Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Av. Bandeirantes, s/n - Monte Alegre, Ribeirão Preto, SP, 14049-900, Brazil.

Background: The Leuconostoc mesenteroides are members of the Streptococcae family and currently has been recognized as potential pathogens. This case describes a bacteremia caused by L. mesenteroides in an immunocompetent patient affected by Chagas disease. Read More

Wounds 2018 Oct;30(10):E102-E104

Department of Surgery, Swedish Medical Center, Seattle, WA.

Introduction: Aspergillus is a rare cause of surgical site infection most often seen in immunocompromised patients undergoing cardiac, transplant, ophthalmologic, or burn operations; an unusual case following a colon resection is presented here.

Case Report: The authors report a case of an invasive Aspergillus fumigatus infection following a subtotal colectomy for toxic megacolon. The patient was on antibiotics following the operation and chronic immunosuppression with steroids and infliximab. Read More

World J Urol 2018 Oct 9. Epub 2018 Oct 9.

Intertryp, IRD-Cirad, Université de Montpellier, Montpellier, France.

Purpose: To describe and give an estimation of the prevalence of urinary disorders in chronic Chagas disease, since most clinical research has been centered on the description of the cardiac and digestive forms.

Methods: To explore this topic, a cross-sectional study was conducted in 137 Bolivian adults of both sexes suffering from symptomatic chronic Chagas disease. All patients presenting confirmed chagasic cardiomyopathy, megacolon or both underwent a urologic symptom questionnaire, uroflowmetry, urinary tract ultrasonography and a creatinine assay. Read More

Dermatol Online J 2018 Jun 15;24(6). Epub 2018 Jun 15.

Department of Dermatology and Venereology, Istanbul Faculty of Medicine, Istanbul University, Istanbul.

We herein present a 4 year-old boy with Waardenburg-Shah syndrome who developed Jacquet erosive diaper dermatitis following a total colectomy and ileoanal anastomosis procedure for Hirschsprung disease. The diagnosis was made according to history and typical clinical findings. Complete resolution of the recalcitrant lesions after an ileostomy procedure supported the diagnosis. Read More

BMJ Case Rep 2018 Aug 20;2018. Epub 2018 Aug 20.

General Surgery, Newham University Hospital, London, UK.

BMJ Case Rep 2018 Aug 8;2018. Epub 2018 Aug 8.

Department of Surgery, University Hospital Limerick, Limerick, Ireland.

A 31-year-old male patient with chronic constipation of unknown aetiology presented emergently with worsening nausea, vomiting and abdominal distension of one week duration. On examination, his abdomen was distended with minimal tenderness. A plain film of the abdomen demonstrated severe faecal loading. Read More

J Laparoendosc Adv Surg Tech A 2018 Jul 29;28(7):894-898. Epub 2018 Jun 29.

Cardinal Glennon Children's Hospital, Saint Louis University , Saint Louis, Missouri.

Background: The Soave pull-through for Hirschsprung's disease leaves a muscular cuff of aganglionosis surrounding the pull-through. In some patients, this cuff can extrinsically compress the pull-through, leading to chronic enterocolitis and failure to thrive. We describe a novel technique for managing the Soave cuff as an alternative to a complete redo pull-through. Read More

Intern Emerg Med 2018 Sep 12;13(6):881-887. Epub 2018 Jun 12.

Department of Internal Medicine, HCA GME Consortium's Internal Medicine Program, University of Central Florida College of Medicine, Gainesville, FL, USA.

Toxic megacolon (TM) is a potentially fatal condition characterized by non-obstructive colonic dilatation and systemic toxicity. It is most commonly caused by inflammatory bowel disease (IBD). Limited data for TM are available demonstrating incidence, in-hospital outcomes and predictors of mortality. Read More

Pediatr Int 2018 May;60(5):400-410

The guideline establishment group for allied disorders of Hirschsprung's disease, Science Research, Ministry of Health Labour and Welfare, Fukuoka, Japan.

Background: Despite the presence of ganglion cells in the rectum, some patients have symptoms similar to those of Hirschsprung's disease. A consensus has yet to be established regarding the terminology for these diseases. We defined this group of diseases as "allied disorders of Hirschsprung's disease" and compiled these guidelines to facilitate accurate clinician diagnosis and provide appropriate treatment strategies for each disease. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2018 May;20(5):428-432

Department of Neonatal Surgery, Shengjing Hospital of China Medical University, Shenyang 110003, China.

Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Read More

Am J Case Rep 2018 May 14;19:557-561. Epub 2018 May 14.

Department of General Surgery, Colorectal Surgery Section, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

BACKGROUND Intestinal hypoganglionosis is very rare and accounts for 3% to 5% of all classified congenital intestinal innervation disorders. Isolated hypoganglionosis of the colon is a particularly rare form of the disease, and differential diagnosis includes association with Hirschsprung's disease and chronic intestinal pseudo-obstruction (CIPO) related to visceral myopathies. Most cases are diagnosed at an early age or in childhood with only a few cases reported in adults. Read More

Rozhl Chir Spring 2018;97(3):133-138

Hirschsprungs disease (HD) in adults is extremely rare, only three publications in Czech and Czechoslovak journals making reference to the condition after childhood. We present two cases of adult patients with HD. The first case is a 46-year-old male patient suffering from chronic constipation since childhood and diagnosed with megacolon at the age of 16; however, no further detailed diagnosis was done. Read More

Front Microbiol 2018 1;9:351. Epub 2018 Mar 1.

Centro de Biología Molecular Severo Ochoa (CSIC), Madrid, Spain.

Chagas disease is a multisystemic disorder caused by the protozoan parasite , which affects ~8 million people in Latin America, killing 7,000 people annually. Chagas disease is one of the main causes of death in the endemic area and the leading cause of infectious myocarditis in the world. infection induces two phases, acute and chronic, where the infection is initially asymptomatic and the majority of patients will remain clinically indeterminate for life. Read More

Parasitol Res 2018 Apr 22;117(4):1147-1158. Epub 2018 Feb 22.

Morphology Department, Federal University of Minas Gerais, Belo Horizonte, 31.270-901, Brazil.

Chagas disease is an infection caused by the parasite Trypanosoma cruzi that affects millions of people worldwide and is endemic in Latin America. Megacolon is the most frequent complication of the digestive chronic form and happens due to lesions of the enteric nervous system. The neuronal lesions seem to initiate in the acute phase and persist during the chronic phase, albeit the mechanisms involved in this process are still debated. Read More

Vojnosanit Pregl 2017 Jan;74(1):78-80

Introduction: Transverse colon volvulus is an uncommon cause of bowel obstruction in general. Predisposing factors are mental retardation, dysmotility disorders, chronic constipation and congenital megacolon.

Case Report: We presented transverse colon volvulus in a 16-year-old boy with cerebral palsy. Read More

Zhonghua Wei Chang Wai Ke Za Zhi 2017 Dec;20(12):1339-1341

Department of Colorectal Surgery, Changhai Hospital, Shanghai 200433, China.

Surgery, as one of the methods for the treatment of chronic constipation, is the final choice after the failure of non-surgical treatment with its specific particularity. The history of surgical treatment of chronic constipation is complex and tortuous. How to select operation among many kinds of surgery, and control risk is difficult for clinician. Read More

J Pediatr Surg 2017 Dec 2;52(12):2001-2005. Epub 2017 Sep 2.

Department of Pediatric Surgery, Research Field in Medical and Health Sciences, Medical and Dental Area, Research and Education Assembly, Kagoshima University, Kagoshima, Japan. Electronic address:

Background/purpose: Hirschsprung disease (HD) is considered curable, but the postoperative bowel function is not always satisfactory. In this study, we evaluated the general condition, bowel function, and social performance in adults who were older than 17years of age who had undergone definitive operations in childhood.

Method: From 1984 to 2016, 110 patients with HD underwent definitive surgery at our institute. Read More

J Laparoendosc Adv Surg Tech A 2018 Apr 30;28(4):471-475. Epub 2017 Nov 30.

Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan, China .

Background: Laparoscopic surgery is widely used in the treatment of Hirschsprung's disease (HD). However, constipation and soiling are still the main long-term complications. A new type of anastomosis, which is characterized by a heart-shaped colorectal anastomosis after splitting the posterior rectum wall to 0. Read More

Khirurgiia (Mosk) 2017(11):28-31

Azerbaijan Medical University, Baku, Azerbaijan Republic.

Aim: To evaluate the results of Rehbein procedure with extraperitoneal colorectal anastomosis combined with complex conservative treatment in children with secondary megacolon due to chronic constipation.

Material And Methods: We carried out surgical interventions in 78 children aged 7-12 years with chronic colostasis resistant to conservative treatment. All patients underwent clinical, laboratory and instrumental examination. Read More

Child Neurol Open 2017 Jan-Dec;4:2329048X17738625. Epub 2017 Nov 7.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Read More

Dig Liver Dis 2018 Feb 20;50(2):142-146. Epub 2017 Oct 20.

Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation; Università degli Studi di Milano, Italy.

Background: Chronic intestinal idiopathic pseudo-obstruction (idiopathic CIPO) is a rare heterogeneous condition for which the different phenotypes are difficult to be established. Oesophageal motility has shown to be impaired in patients with idiopathic CIPO at traditional manometry, whereas no studies have assessed it by high resolution manometry (HRM).

Aims: To evaluate oesophageal motility by HRM in patients with idiopathic CIPO. Read More

J Pediatr Surg 2018 Aug 7;53(8):1566-1572. Epub 2017 Oct 7.

Women and Children's Hospital of Buffalo, 140 Hodge Street, Buffalo, NY 14222; State University of New York at Buffalo, Department of Surgery, 3435 Main Street, Buffalo, NY 14214. Electronic address:

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. Read More

Benef Microbes 2018 Jan 25;9(1):101-110. Epub 2017 Oct 25.

5 Gastrointestinal Laboratory, Texas A&M University, College Station 4474, 77843 TX, USA.

Chronic constipation (CC) and idiopathic megacolon (IMC) occur frequently in cats. The aim of the study was to investigate the effects of a multi-strain probiotic (SLAB51™) in constipated cats (n=7) and in patients with megacolon and constipation (n=3). Ten pet cats with a diagnosis of chronic constipation, non-responsive to medical management received orally 2×10 bacteria daily for 90 days. Read More

Eur J Pediatr Surg 2018 Dec 23;28(6):522-528. Epub 2017 Oct 23.

Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland.

Background:  Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are chronic bowel conditions associated with varying degrees of fecal incontinence. We aimed to discuss the contemporary status of social morbidity associated with ARMs and HD in the long term after contemporary treatments.

Materials And Methods:  The bowel functional outcomes of our recent institutional series up to adulthood were reviewed and compared for ARMs and HD. Read More

Gastrointest Endosc 2018 03 8;87(3):876-880. Epub 2017 Sep 8.

Division of Gastroenterology, Center for Neurointestinal Health, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Background And Aims: Patients with chronic constipation or motility disorders may be referred for rectal suction biopsy (RSB) to rule out Hirschsprung's disease (HD). RSB may not be successful beyond infancy because of the increased thickness of the rectal mucosa. EMR could improve the diagnostic yield for HD when compared with traditional RSB because larger and deeper samples are acquired for analysis. Read More

JFMS Open Rep 2017 Jul-Dec;3(2):2055116917725222. Epub 2017 Aug 18.

Hospital Ars Veterinaria, Barcelona, Spain.

Case Summary: A 5-year-old male neutered domestic shorthair cat was presented to our referral centre with a 13 month history of chronic tenesmus due to malunion of the right caudal iliac body. Constipation and pelvic canal stenosis were initially addressed by the referring veterinarian with a right femoral head and neck excision and a right acetabulectomy without observable clinical improvement. At admission, abdominal radiographs revealed severe colonic distension and a narrowed pelvic canal caused by the right proximal femur. Read More

Eur J Pediatr Surg 2018 Feb 24;28(1):67-74. Epub 2017 Aug 24.

Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore, Singapore.

Introduction:  The impact of anorectal malformation (ARM) or Hirschsprung's disease (HD) in children continues into adulthood despite early surgical correction. We aimed to explore the physical, social, and emotional impacts of these conditions on youth to inform best transition care strategies.

Materials And Methods:  Eligible participants were those aged between 14 and 21 years who had undergone surgery for ARM/HD in our institution. Read More

Clin Auton Res 2018 02 20;28(1):67-81. Epub 2017 Jul 20.

Neurology Department, Raigmore Hospital, Inverness, UK.

Objectives: To review infectious diseases that may cause autonomic dysfunction.

Methods: Review of published papers indexed in medline/embase.

Results: Autonomic dysfunction has been reported in retrovirus (human immunodeficiency virus (HIV), human T-lymphotropic virus), herpes viruses, flavivirus, enterovirus 71 and lyssavirus infections. Read More

Neurogastroenterol Motil 2018 Jan 6;30(1). Epub 2017 Jul 6.

Division of Gastroenterology and Hepatology, University Hospital Zürich, Zürich, Switzerland.

Background: Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis. Read More

Am J Forensic Med Pathol 2017 Sep;38(3):254-257

From the Department of Pathology at the University of Michigan, Ann Arbor; and Wayne County Medical Examiner's Office, Detroit, MI.

Abnormal dilation of the colon and rectum can develop from a range of disease processes. When encountered at autopsy, its contribution to death requires assessment and a thorough investigation of its origins. Elimination of known causes elicits a diagnosis of idiopathic megacolon. Read More

Pathol Res Pract 2017 Sep 20;213(9):1207-1214. Epub 2017 Apr 20.

Laboratory of Biopathology and Molecular Biology, University of Uberaba (UNIUBE), Uberaba, MG, Brazil; Cefores, Federal University of Triangulo Mineiro (UFTM), Uberaba, MG, Brazil. Electronic address:

Objective And Design: The aim of the present study was to evaluate the immunohistochemical expression of Gal-1, Gal-3 and Gal-9 in the colon of chronic chagasic patients compared to biopsied non-chagasic patients.

Material Or Subjects: Thirty-two colon fragments were selected from chagasic patients with megacolon (n=25) and nonchagasic patients without megacolon (n=7).

Methods: Immunohistochemistry for Gal-1, Gal-3 and Gal-9 was performed using a common light microscope and the results were scored 0-3 according to labeling intensity. Read More

Neurogastroenterol Motil 2017 Oct 19;29(10):1-13. Epub 2017 May 19.

Department of Histology, State University of Londrina, Londrina, Paraná, Brazil.

Background: Experimental and clinical studies have shown that myenteric neuron cell death during infection with Trypanosoma cruzi mainly occurs in the esophagus and colon, resulting in megaesophagus and megacolon, respectively. Evidence suggests that the cyclooxygenase enzyme (COX) is involved in the T. cruzi invasion process. Read More

Eur J Intern Med 2017 Sep 11;43:6-15. Epub 2017 May 11.

III Division of Infectious Diseases, ASST Fatebenefratelli Sacco, Milano, Italy.

Chagas disease (CD) or American trypanosomiasis identified in 1909 by Carlos Chagas, has become over the last 40years a global health concern due to the huge migration flows from Latin America to Europe, United States, Canada and Japan. In Europe, most migrants from CD-endemic areas are concentrated in Spain, Italy, France, United Kingdom and Switzerland. Pooled seroprevalence studies conducted in Europe show an overall 4. Read More

G Chir 2017 Jan-Feb;38(1):53-54

Fecaloma is common in patients with damage to the autonomic nervous system in the large bowel associated with Chagas disease (inflammatory and neoplastic) or Hirschprung's disease, in psychiatric patients and, more commonly, in elderly patients suffering with chronic constipation. Symptoms of fecaloma are usually nonspecific. Clinical examination can give the appearance of an abdominal tumor. Read More

Eur J Clin Microbiol Infect Dis 2017 Sep 18;36(9):1661-1664. Epub 2017 Apr 18.

Department of Medical Microbiology, Medical University of Warsaw, 5 Chałubiński Street, 02-004, Warsaw, Poland.

Clostridium difficile is the cause of the nosocomial C. difficile infection (CDI). The conventional antibiotics used in CDI therapy are often unsuccessful, and recurrent infections may occur. Read More

Chirurg 2017 Jul;88(7):555-558

Klinik für Allgemein-, Viszeral-, Thoraxchirurgie, Adipositasmedizin, Caritas-Krankenhaus St. Josef, Landshuterstr. 65, 93052, Regensburg, Deutschland.

Ileoanal pouch anastomosis is the procedure of choice for patients with drug refractory ulcerative colitis, indeterminate colitis and familial adenomatous polyposis (FAP). In selected patient groups this procedure is a treatment option for patients with Crohn's disease, hereditary nonpolyposis colorectal cancer (HNPCC), synchronous colorectal cancer and for severe colorectal constipation refractory to conservative drug treatment. The pouch procedure provides the opportunity to avoid a permanent ileostomy. Read More

Rev Med Chil 2017 Jan;145(1):75-84

Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Ulcerative Colitis (UC) is a chronic inflammatory disease involving the colon, with alternating periods of remission and activity. Exacerbations can be severe and associated with complications and mortality. Diagnosis of severe UC is based on clinical, biochemical and endoscopic variables. Read More

Histochem Cell Biol 2017 Aug 29;148(2):207-216. Epub 2017 Mar 29.

Institute of Anatomy I, University of Erlangen-Nürnberg, Krankenhausstr. 9, 91054, Erlangen, Germany.

Patients suffering from chagasic megacolon must have an intact mucosal barrier as they survive this chronic disease for decades. A key structure of the mucosal barrier are epithelial cells. Vasoactive-intestinal-peptide (VIP)-positive nerve fibres are involved in influencing, e. Read More

Am J Med Genet A 2017 Apr;173(4):1066-1070

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. Read More

J Clin Diagn Res 2016 Dec 1;10(12):ED03-ED05. Epub 2016 Dec 1.

Fellow in Paediatric Pathology, Department of Pathology, Seth G.S.M.C and KEM Hospital , Mumbai, Maharashtra, India .

Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is associated with gross dilatation of the colon and profound toxaemia, the combination being termed toxic megacolon. Read More

Clin Nucl Med 2017 Apr;42(4):312-314

From the *Medical Imaging Research Center, †Department of Nuclear Medicine, and ‡Nuclear Medicine and Molecular Imaging Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

A 7-year-old boy with chief complaint of chronic pelvic pain was referred to our nuclear medicine department for bone scintigraphy. The images showed a focus of radiotracer activity in the right side of pelvic cavity, which is further confirmed as urinary bladder by single-photon emission computed tomography (SPECT) and delayed images. Because of high possibility of mass effect in pelvic cavity, pelvic magnetic resonance imaging (MRI) was performed, and it revealed an unusual dilatation of rectosigmoid colon with no evidence of pelvic mass. Read More