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      Congenital Segmental Intestinal Dilatation: A 25-Year Review with Long-Term Follow-up at the Medical University of Innsbruck, Austria

      , MD, PhD, MPH, FRCPC, FCAP 1 , 2 , 3 , , MD 4 , 5 , , Prof. Mag. Phil. Dr. med. Univ. 6

      AJP Reports

      Thieme Medical Publishers

      dilatation, intestine, obstruction, aganglionosis, Hirschsprung's disease, heart defect

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          Background and Aim  Congenital segmental intestinal dilatation (CSID) is a neonatal condition with unclear etiology and pathogenesis. Typically, the newborn with CSID presents with a limited (circumscribed) bowel dilatation, an abrupt transition between normal and dilated segments, neither intrinsic nor extrinsic perilesional obstruction, and no aganglionosis or neuronal intestinal dysplasia. We aimed to review this disease and the long-term follow-up at the Children's Hospital of the Medical University of Innsbruck, Tyrol, Austria.

          Study Design  Retrospective 25-year review of medical charts, electronic files, and histopathology of neonates with CSID.

          Results  We identified four infants (three girls and one boy) with CSID. The affected areas included duodenum, ileum, ascending colon, and sigmoid colon. Noteworthy, all patients presented with a cardiovascular defect, of which two required multiple cardiac surgical interventions. Three out of the four patients recovered completely. To date, the three infants are alive.

          Conclusion  This is the first report of patients with CSID and cardiovascular defects. The clinical and surgical intervention for CSID also requires a thorough cardiologic evaluation in these patients. CSID remains an enigmatic entity pointing to the need for joint forces in identifying common loci for genetic investigations.

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          Most cited references 71

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          The incidence of congenital heart disease.

          This study was designed to determine the reasons for the variability of the incidence of congenital heart disease (CHD), estimate its true value and provide data about the incidence of specific major forms of CHD. The incidence of CHD in different studies varies from about 4/1,000 to 50/1,000 live births. The relative frequency of different major forms of CHD also differs greatly from study to study. In addition, another 20/1,000 live births have bicuspid aortic valves, isolated anomalous lobar pulmonary veins or a silent patent ductus arteriosus. The incidences reported in 62 studies published after 1955 were examined. Attention was paid to the ways in which the studies were conducted, with special reference to the increased use of echocardiography in the neonatal nursery. The total incidence of CHD was related to the relative frequency of ventricular septal defects (VSDs), the most common type of CHD. The incidences of individual major forms of CHD were determined from 44 studies. The incidence of CHD depends primarily on the number of small VSDs included in the series, and this number in turn depends upon how early the diagnosis is made. If major forms of CHD are stratified into trivial, moderate and severe categories, the variation in incidence depends mainly on the number of trivial lesions included. The incidence of moderate and severe forms of CHD is about 6/1,000 live births (19/1,000 live births if the potentially serious bicuspid aortic valve is included), and of all forms increases to 75/1,000 live births if tiny muscular VSDs present at birth and other trivial lesions are included. Given the causes of variation, there is no evidence for differences in incidence in different countries or times.
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            Axis development and early asymmetry in mammals.

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              The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals.

              The mechanism by which asymmetric signals induce left-right-specific morphogenesis has been elusive. Pitx2 encodes a transcription factor expressed throughout the left lateral plate mesoderm and subsequently on the left side of asymmetric organs such as the heart and gut during organogenesis in the chick embryo. Pitx2 is induced by the asymmetric signals encoded by Nodal and Sonic hedgehog, and its expression is blocked by prior treatment with an antibody against Sonic hedgehog. Misexpression of Pitx2 on the right side of the embryo is sufficient to produce reversed heart looping and heart isomerisms, reversed body rotation, and reversed gut situs.

                Author and article information

                AJP Rep
                AJP Rep
                AJP Reports
                Thieme Medical Publishers (333 Seventh Avenue, New York, NY 10001, USA. )
                July 2019
                11 July 2019
                : 9
                : 3
                : e218-e225
                [1 ]Department of Orthopedics, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, Hubei, P.R. China
                [2 ]Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada
                [3 ]Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
                [4 ]Institute of Pathology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany
                [5 ]Institute of Pathology, Medical University of Innsbruck, Innsbruck, Austria
                [6 ]Department of Pediatric Surgery, Medical University of Innsbruck, Innsbruck, Austria
                Author notes
                Address for correspondence Consolato Maria Sergi, MD, PhD, MPH, FRCPC, FCAP Department of Laboratory Medicine and Pathology, University of Alberta 8440 112 Street, Edmonton, AB T6G2B7Canada sergi@

                This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.

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