المؤلفون: Han SM; Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Knell J; Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Henry O; Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Hong CR; Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Han GY; Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Staffa SJ; Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Modi BP; Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA., Jaksic T; Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA. Electronic address: tom.jaksic@childrens.harvard.edu.

المصدر: Journal of pediatric surgery [J Pediatr Surg] 2020 Jan; Vol. 55 (1), pp. 164-168. Date of Electronic Publication: 2019 Oct 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-5037 (Electronic) Linking ISSN: 00223468 NLM ISO Abbreviation: J Pediatr Surg Subsets: MEDLINE

مواضيع طبية MeSH: Cost of Illness* , Parenteral Nutrition*, Short Bowel Syndrome/*therapy, Adolescent ; Child ; Enteral Nutrition ; Female ; Hospitalization ; Humans ; Infant ; Infant, Newborn ; Male ; Prescription Drugs ; Retrospective Studies ; Short Bowel Syndrome/rehabilitation ; Time Factors ; Treatment Outcome

مستخلص: Purpose: The study aims to describe long-term outcomes and disease burden of neonatal onset short bowel syndrome (SBS).
Methods: Utilizing the WHO criteria for adolescence, patients 10-19 years of age with neonatal onset SBS requiring parenteral nutrition (PN) for >90 days and followed by our multidisciplinary intestinal rehabilitation center between 2009 and 2018 were included for analysis.
Results: Seventy adolescents with SBS were studied. Median (IQR) age at last follow up in our center was 15 (11, 17) years. There was 0% mortality in the cohort, and 94% remained transplant free. Fifty-three patients (76%) achieved enteral autonomy. Three patients were weaned from PN without transplantation after six years of follow-up and another four after ten years of care at our multidisciplinary center. Disease burden remained higher in adolescents receiving PN, including inpatient hospitalizations (p < 0.01), procedures (p = 0.01), clinic visits (p < 0.01), and number of prescribed medications (p < 0.01).
Conclusion: Survival for adolescents with neonatal onset SBS is excellent. Of the cohort studied, there was no mortality, and more than 75% achieved enteral autonomy. Disease burden remains high for adolescents who remain dependent on PN. However, achievement of enteral autonomy is feasible with long-term multidisciplinary rehabilitation.
Type of Study: Prognosis study.
Level of Evidence: Level II.
(Copyright © 2019. Published by Elsevier Inc.)

المؤلفون: Culbreath, Katherine, Keefe, Gregory, Nes, Emily, Knell, Jamie, Han, Sam M., Chugh, Priyanka, Han, Grace Y., Carey, Alexandra N., Jimenez, Lissette, Thiagarajah, Jay R., Pai, Sung-Yun, Modi, Biren P., Jaksic, Tom

المصدر: Journal of Pediatric Surgery Case Reports; May2022, Vol. 80, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: SHORT bowel syndrome, STEM cell transplantation, INTESTINES, GENETIC testing, ANTIBIOTIC prophylaxis, SEVERE combined immunodeficiency

مستخلص: Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene are associated with severe intestinal disorders and combined immunodeficiency (CID), with poor long-term survival. This study describes the characteristics and clinical course of six patients with intestinal failure who were found to have biallelic TTC7A mutations, highlighting key management strategies for identifying these patients and improving their survival. Of the six patients included, five had multiple intestinal atresias (83%) and one had congenital enteropathy (17%). Pyloric web or atresia was present in 100% of patients. All patients had low CD3⁺ T-cell counts on flow cytometry, consistent with CID. Immunologic management consisted of intravenous immunoglobulin and antibiotic prophylaxis, while two patients (33%) underwent stem cell transplantation. All patients were initially dependent on parenteral nutrition, but two (33%) achieved enteral autonomy after undergoing intestinal transplantation. Patients were followed for a median of 7 years (IQR 4.75–9.25), with a long-term survival rate of 67%. The high incidence of pyloric atresia in this case series suggests that the presence of pyloric atresia, especially in the setting of other intestinal disorders, should prompt screening for CID and a genetic evaluation. Recognition of the mutation and involvement of appropriate interdisciplinary care teams are essential for optimizing survival of these complex patients. [ABSTRACT FROM AUTHOR]

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