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      Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome

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          Abstract

          Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients.

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          Most cited references31

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          Childhood constipation: longitudinal follow-up beyond puberty.

          Sparse data exist about the prognosis of childhood constipation and its possible persistence into adulthood. A total of 418 constipated patients older than 5 years at intake (279 boys; median age, 8.0 yr) participated in studies evaluating therapeutic modalities for constipation. All children subsequently were enrolled in this follow-up study with prospective data collection after an initial 6-week intensive treatment protocol, at 6 months, and thereafter annually, using a standardized questionnaire. Follow-up was obtained in more than 95% of the children. The median duration of the follow-up period was 5 years (range, 1-8 yr). The cumulative percentage of children who were treated successfully during follow-up was 60% at 1 year, increasing to 80% at 8 years. Successful treatment was more frequent in children without encopresis and in children with an age of onset of defecation difficulty older than 4 years. In the group of children treated successfully, 50% experienced at least one period of relapse. Relapses occurred more frequently in boys than in girls (relative risk 1.73; 95% confidence interval, 1.15-2.62). In the subset of children aged 16 years and older, constipation still was present in 30%. After intensive initial medical and behavioral treatment, 60% of all children referred to a tertiary medical center for chronic constipation were treated successfully at 1 year of follow-up. One third of the children followed-up beyond puberty continued to have severe complaints of constipation. This finding contradicts the general belief that childhood constipation gradually disappears before or during puberty.
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            Levels of satisfaction with current chronic constipation treatment options in Europe - an internet survey.

            Data on treatment satisfaction in European men and women with chronic constipation are limited.
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              The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.

              Proneural factors represent <10 transcriptional regulators required for specifying all of the different neurons of the mammalian nervous system. The mechanisms by which such a small number of factors creates this diversity are still unknown. We propose that proteins interacting with proneural factors confer such specificity. To test this hypothesis we isolated proteins that interact with Math1, a proneural transcription factor essential for the establishment of a neural progenitor population (rhombic lip) that gives rise to multiple hindbrain structures and identified the E-protein Tcf4. Interestingly, haploinsufficiency of TCF4 causes the Pitt-Hopkins mental retardation syndrome, underscoring the important role for this protein in neural development. To investigate the functional relevance of the Math1/Tcf4 interaction in vivo, we studied Tcf4(-/-) mice and found that they have disrupted pontine nucleus development. Surprisingly, this selective deficit occurs without affecting other rhombic lip-derived nuclei, despite expression of Math1 and Tcf4 throughout the rhombic lip. Importantly, deletion of any of the other E-protein-encoding genes does not have detectable effects on Math1-dependent neurons, suggesting a specialized role for Tcf4 in distinct neural progenitors. Our findings provide the first in vivo evidence for an exclusive function of dimers formed between a proneural basic helix-loop-helix factor and a specific E-protein, offering insight about the mechanisms underlying transcriptional programs that regulate development of the mammalian nervous system.
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                Author and article information

                Journal
                Case Rep Pediatr
                Case Rep Pediatr
                CRIPE
                Case Reports in Pediatrics
                Hindawi Publishing Corporation
                2090-6803
                2090-6811
                2017
                31 January 2017
                : 2017
                : 5437830
                Affiliations
                1Research Department, Istituto Superiore di Osteopatia, 20126 Milan, Italy
                2Department of Clinical Paediatrics & Obstetrics-Gynaecology, Istituto Superiore di Osteopatia, 20126 Milan, Italy
                Author notes

                Academic Editor: Seyed Mohsen Dehghani

                Author information
                http://orcid.org/0000-0003-1898-1065
                http://orcid.org/0000-0002-8361-9145
                http://orcid.org/0000-0002-6475-531X
                http://orcid.org/0000-0001-7773-9717
                http://orcid.org/0000-0002-6701-7638
                Article
                10.1155/2017/5437830
                5306969
                28251008
                40c9c367-c16e-4bad-91d7-53a5a21b9158
                Copyright © 2017 Alessandro Aquino et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 14 November 2016
                : 15 January 2017
                Categories
                Case Report

                Pediatrics
                Pediatrics

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