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Objective: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus., Study Design: Clinical Care Consortium for Telomere Associated Ailments members were invited to contribute data on individuals with telomere biology disorders at their institutions who experienced GI bleeding. Patient demographic, laboratory, imaging, procedural, and treatment information and outcomes were extracted from the medical record., Results: Sixteen patients who experienced GI hemorrhage were identified at 11 centers. Among 14 patients who underwent genetic testing, 8 had mutations in TINF2, 4 had mutations in CTC1 or STN1, and 1 patient each had a mutation in TERC and RTEL1. Ten patients had a history of hematopoietic cell transplantation. The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach and/or small bowel was described in 8 of the 12 patients who underwent endoscopy; only 4 had esophageal varices. Various medical interventions were trialed. No single intervention was uniformly associated with cessation of bleeding, although 1 patient had a sustained response to treatment with bevacizumab. Recurrence was common, and the overall long-term outcome for affected patients was poor., Conclusions: GI bleeding in patients with telomere biology disorders is associated with significant morbidity and with vascular ectasias rather than varices., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objectives: To determine the efficacy of physical therapy (PT) for fecal incontinence in children with pelvic floor dyssynergia (PFD)., Study Design: Retrospective chart review of children with PFD completing >1 PT session for fecal incontinence at a quaternary children's hospital. The frequency of fecal incontinence (primary outcome), constipation-related medication use, number of bowel movements (in those with <3 per week at baseline) and pelvic floor muscle (PFM) function were captured at baseline and at the final PT visit. Outcomes were categorized as excellent (complete continence), good (>50% decrease in fecal incontinence frequency), fair (not worsening but <50% fecal incontinence frequency decrease), and poor (more frequent fecal incontinence). Compliance with PT was determined by the percentage of attended PT appointments., Results: Children included met the following primary outcomes: 27 (42.2%) excellent, 24 (37.5%) good, 11 (17.1%) fair, and 2 (3.1%) poor. Factors associated with an excellent or good outcome included improved PFM functioning and good (≥70% PT attendance) compliance. Children with a history of surgically corrected tethered spinal cord were more likely to have a fair outcome (P = .015). Use of constipation-related medications decreased (1.9 ± 0.7 vs 1.5 ± 0.9, P = .005). Weekly bowel movement frequency increased (1.6 ± 0.6 vs 6.4 ± 4.8, P < .001) in those with infrequent bowel movements (n = 26) at baseline., Conclusions: Pelvic floor PT is effective in the majority of children with fecal incontinence related to PFD. Factors associated with PT efficacy include improved PFM functioning, good compliance with PT, and history of tethered cord., (Copyright © 2017 Elsevier Inc. All rights reserved.)