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Background and aims: Chronic idiopathic intestinal pseudoobstruction (CIIP) is a severe motility disorder associated with significant morbidity. Several histo pathological (neuropathic and myopathic) phenotypes have been described but only a single adult with jejunal smooth (circular) muscle α-actin deficiency. We present a prospective multinational case series investigating smooth muscle α-actin deficiency as a biomarker of this disease. Methods: A total of 115 fullycl inically and physiologically (including prolonged (24 hour) ambulatory jejunal manometry) characterised CIIP patients from three European centres were studied.Immunohistochemical localisation of actins and other cytoskeletal proteins were performed on laparoscopic full thickness jejunal biopsies and compared with adult controls. Distribution of α-actin was also characterised in other gut regions and in the developing human alimentary tract. Results: Twenty eight of 115 (24 %) CIIP patient biopsies had absent (n = 22) or partial (n = 6) jejunal smooth muscle α-actin immunostaining in the circular muscle layer. In contrast, smooth muscle α-actin staining was preserved in the longitudinal muscle and in adult jejunal controls (n = 20). Comparative study of other adult alimentary tractr egions and fetal small intestine, suggested significant spatial and temporal var iations in smooth muscle α-actin expression. Conclusions: The ability to modul ate α-smooth muscle actin expression, evident in development, is maintained in adult life and may be influenced by disease, rendering it a valuable biomarker even in the absence of other structural abnormalities.
Background and aims: Chronic idiopathic intestinal pseudoobstruction (CIIP) is a severe motility disorder associated with significant morbidity. Several histo pathological (neuropathic and myopathic) phenotypes have been described but only a single adult with jejunal smooth (circular) muscle alpha-actin deficiency. Methods: A total of 115 fully cl inically and physiologically (including prolonged (24 hour) ambulatory jejunal manometry) characterized CIIP patients from three European centers were studied. Immunohistochemical localization of actins and other cytoskeletal proteins were performed on laparoscopic full thickness jejunal biopsies and compared with adult controls. Distribution of α-actin was also characterised in other gut regions and in the developing human alimentary tract. Results: Twenty eight of 115 (24%) CIIP patient biopsies had absent (n = 22) In contrast, smooth muscle α-actin staining was preserved in the longitudinal muscle and in adult jejunal controls (n = 20). Comparative study of other (n = 6) jejunal smooth muscle α-actin immunostaining in the circular muscle layer. suggests aliased tractr egions and fetal small intestine, suggested significant spatial and temporal var iations in smooth muscle α-actin expression. Conclusions: The ability to modul ate α-smooth muscle actin expression, evident in development, is maintained in adult life and may be affected by disease, rendering it a valuable biomarker even in the absence of other structural abnormalities.