Employing innovation to enhance the safety and reliability of restorative surgical techniques for patients with familial adenomatous polyposis at a national referral centre.

Introduction: Restorative proctocolectomy (RPC) and total colectomy with ileorectal anastomosis (TC-IRA) are traditional surgical options for individuals with familial adenomatous polyposis (FAP). Re-appraisal and modification to these techniques, such as near-total colectomy with ileo-distal sigmoid anastomosis (NT-IDSA) and RPC with robotic intracorporeal single-stapled anastomosis (RPC-RiSSA), have been implemented in recent years. This study aimed to evaluate the early postoperative outcomes associated with novel techniques employed in a single centre for restorative surgery in patients with FAP.

Creation of an institutional preoperative checklist to support clinical risk assessment in patients with ulcerative colitis (UC) considering ileoanal pouch surgery.

Background: Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the most established restorative operative approach for patients with ulcerative colitis. It has associated morbidity and the potential for major repercussions on quality of life. As such, patient selection is crucial to its success.

Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.

Objective: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses.

Methods: A multicenter, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30 years and meeting international consensus criteria for DSRD were included.

Use of AgomiR and AntagomiR technologies to alter satellite cell proliferation , miRNA expression, and muscle fiber hypertrophy in intrauterine growth-restricted lambs.

microRNAs (miRNAs) are small non-coding RNAs that work at the posttranscriptional level to repress gene expression. Several miRNAs are preferentially expressed in skeletal muscle and participate in myogenesis. This research was conducted to alter endogenous miRNA expression in skeletal muscle to promote muscle hypertrophy.

Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.

Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed.

An exploratory study of plasma ceramides in comorbidities in Down syndrome.

Plasma ceramide levels (henceforth, "ceramides") are biomarkers of some diseases that are comorbidities of Down syndrome (DS). We sought to determine if comorbidities in DS were associated with ceramides, studying a convenience cohort of 35 study participants, all ≥12 months old. To identify comorbidities, we reviewed the problem lists in electronic health records that were concurrent with sample collection.

Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder.

Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed.

Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.

Objective: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome.

Background: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets.

The use of, and outcomes for, inflammatory bowel disease services during the Covid-19 pandemic: a nationwide observational study.

Background: Inflammatory bowel disease (IBD) services have been particularly affected by the Covid-19 pandemic. Delays in referral to secondary care and access to investigations and surgery have been exacerbated.

Aims: To investigate the use of and outcomes for emergency IBD care during the Covid-19 pandemic.

Long-term outcome and quality of life after continent ileostomy for ulcerative colitis: A systematic review.

Aim: The continent ileostomy allows evacuation of an ileal reservoir at a time convenient to the patient. It is a surgical option for patients with ulcerative colitis (UC) when a restorative option is not suitable or has not succeeded and the patient does not want a conventional end ileostomy. Continent ileostomy types include the Kock pouch, Barnett continent intestinal reservoir and T-pouch.

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.

Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor function in young children with cerebral palsy (CP). As many children with CP do not have their own CB available, use of allogeneic cells would extend access to this potentially beneficial therapy to more children. In this phase I, open-label study, 15 children, aged 1 to 6 years, with moderate to severe spastic CP were treated with a single intravenous infusion of allogeneic human leukocyte antigen (HLA) matched or partially matched sibling CB with a cell dose of ≥2.

Presentation, management and outcomes of ileoanal pouch cancer: a single-centre experience.

Aim: This study aimed to determine the clinical presentation, management and outcomes for patients with ileoanal pouch cancer.

Method: Patients who were diagnosed with ileoanal pouch cancer were identified from our polyposis registry (1978-2019) and operative and referral records (2006-2019). Details of presentation, endoscopic surveillance, cancer staging and management were retrieved from hospital records.

MRI-enema for the assessment of pelvic intestinal anastomotic integrity.

Aim: Anastomotic leak causes significant morbidity for patients undergoing pelvic intestinal surgery. Fluoroscopic assessment of anastomotic integrity using water-soluble contrast enema (WSCE) is of questionable benefit over examination alone. We hypothesized that MRI-enema may be more accurate.

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder.

Down syndrome disintegrative disorder (DSDD) is a condition of unknown etiology characterized by acute cognitive decline, catatonia, insomnia, and autistic features in individuals with Down syndrome. A prior report of four patients with DSDD suggested a potential autoimmune etiology based on the presence of autoantibodies and on successful treatment with immunotherapy that included intravenous immunoglobulin (IVIG). Herein, we present the case of an 8-year old girl who developed acute cognitive decline to a dementia-like state, insomnia, catatonia, and autistic features.

Effect of the SARS-CoV-2 pandemic on mortality related to high-risk emergency and major elective surgery.

These data show large reductions in both elective and emergency activity that are concerning for unmeasured morbidity and mortality within the community. The risk of mortality following high-risk EGS and major elective surgery during the first wave of the pandemic did not differ when compared with date-matched patient cohorts from 2019. The prevalence of concomitant SARS-CoV-2 infection in this surgical population is low.

Evaluation of the Ventral Hernia Working Group classification for long-term outcome using English Hospital Episode Statistics: a population study.

Purpose: The Ventral Hernia Working Group (VHWG) classification of ventral/incisional hernia (IH) was developed by expert consensus in 2010. Subsequently, Kanters et al. have demonstrated the validity of a modified version of the system for predicting short-term outcomes.

The pouch behaving badly: management of morbidity after ileal pouch-anal anastomosis.

Aim: Ileal pouch-anal anastomosis (IPAA), or a 'pouch', allows restoration of intestinal continuity after proctocolectomy for ulcerative colitis or familial adenomatous polyposis. Most patients have a good long-term outcome after IPAA, but in a significant proportion the functional outcome and quality of life are unsatisfactory. We term this outcome 'the pouch behaving badly'.

Neurosurgical procedures for children with myelomeningocele after fetal or postnatal surgery: a comparative effectiveness study.

Aim: To compare the frequencies of neurosurgical procedures to treat comorbid conditions of myelomeningocele in patients who underwent fetal surgery versus postnatal surgery for closure of the placode.

Method: By utilizing the National Spina Bifida Patient Registry in a comparative effectiveness study, 298 fetal surgery patients were matched by birthdate (±3mo) and spina bifida clinic site with one to three postnatal surgery patients (n=648). Histories were obtained by record review on enrollment and yearly subsequently.

Neurogenic bowel treatments and continence outcomes in children and adults with myelomeningocele.

Purpose: Neurogenic bowel dysfunction (NBD) is a common comorbidity of myelomeningocele (MMC), the most common and severe form of spina bifida. The National Spina Bifida Patient Registry (NSBPR) is a research collaboration between the CDC and Spina Bifida Clinics. Fecal continence (continence) outcomes for common treatment modalities for NBD have not been described in a large sample of individuals with MMC.

Colectomy rates for ulcerative colitis in England 2003-2016.

Background: Temporal trends in colectomy rate for ulcerative colitis (UC) are particularly relevant in the current era of published IBD standards and changing approach to salvage of acute severe disease.

Aims: To investigate temporal trends in colectomy for UC using English population data.

Methods: The Hospital Episode Statistics (HES) were interrogated between 2003-2016 with two patient groups investigated independently.