Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for <scp><i>SMAD4</i></scp> in human neural crest defects

American Journal of Medical Genetics Part A · 2022 · 12 citations

• Medicine
• Cardiology
• Internal medicine

Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular anomalies, including congenital heart defects. In addition to two patients in the literature with ToF, we describe five additional individuals with Myhre syndrome and classic ToF, ToF with pulmonary atresia and multiple aorto-pulmonary collaterals, and ToF with absent pulmonary valve. Aorta hypoplasia was documented in one patient and suspected in another two. In half of these individuals, postoperative cardiac dysfunction was thought to be more severe than classic postoperative ToF repair. There may be an increase in right ventricular pressure, and right ventricular dysfunction due to free pulmonic regurgitation. Noncardiac developmental abnormalities in our series and the literature, including corectopia, heterochromia iridis, and congenital miosis suggest an underlying defect of neural crest cell migration in Myhre syndrome. We advise clinicians that Myhre syndrome should be considered in the genetic evaluation of a child with ToF, short stature, unusual facial features, and developmental delay, as these children may be at risk for increased postoperative morbidity. Additional research is needed to investigate the hypothesis that postoperative hemodynamics in these patients may be consistent with restrictive myocardial physiology.

Safety of hospital discharge before return of bowel function after elective colorectal surgery

British journal of surgery · 2020 · 26 citations

• Medicine
• Surgery
• Internal medicine

BACKGROUND: Ileus is common after colorectal surgery and is associated with an increased risk of postoperative complications. Identifying features of normal bowel recovery and the appropriateness for hospital discharge is challenging. This study explored the safety of hospital discharge before the return of bowel function. METHODS: A prospective, multicentre cohort study was undertaken across an international collaborative network. Adult patients undergoing elective colorectal resection between January and April 2018 were included. The main outcome of interest was readmission to hospital within 30 days of surgery. The impact of discharge timing according to the return of bowel function was explored using multivariable regression analysis. Other outcomes were postoperative complications within 30 days of surgery, measured using the Clavien-Dindo classification system. RESULTS: A total of 3288 patients were included in the analysis, of whom 301 (9·2 per cent) were discharged before the return of bowel function. The median duration of hospital stay for patients discharged before and after return of bowel function was 5 (i.q.r. 4-7) and 7 (6-8) days respectively (P < 0·001). There were no significant differences in rates of readmission between these groups (6·6 versus 8·0 per cent; P = 0·499), and this remained the case after multivariable adjustment for baseline differences (odds ratio 0·90, 95 per cent c.i. 0·55 to 1·46; P = 0·659). Rates of postoperative complications were also similar in those discharged before versus after return of bowel function (minor: 34·7 versus 39·5 per cent; major 3·3 versus 3·4 per cent; P = 0·110). CONCLUSION: Discharge before return of bowel function after elective colorectal surgery appears to be safe in appropriately selected patients.

Population mobility and adult orthopaedic trauma services during the COVID-19 pandemic: fragility fracture provision remains a priority

Bone & Joint Open · 2020 · 69 citations

• Medicine
• Emergency medicine
• Demography

AIMS: This study aims to define the epidemiology of trauma presenting to a single centre providing all orthopaedic trauma care for a population of ∼ 900,000 over the first 40 days of the COVID-19 pandemic compared to that presenting over the same period one year earlier. The secondary aim was to compare this with population mobility data obtained from Google. METHODS: A cross-sectional study of consecutive adult (> 13 years) patients with musculoskeletal trauma referred as either in-patients or out-patients over a 40-day period beginning on 5 March 2020, the date of the first reported UK COVID-19 death, was performed. This time period encompassed social distancing measures. This group was compared to a group of patients referred over the same calendar period in 2019 and to publicly available mobility data from Google. RESULTS: Orthopaedic trauma referrals reduced by 42% (1,056 compared to 1,820) during the study period, and by 58% (405 compared to 967) following national lockdown. Outpatient referrals reduced by 44%, and inpatient referrals by 36%, and the number of surgeries performed by 36%. The regional incidence of traumatic injury fell from 5.07 (95% confidence interval (CI) 4.79 to 5.35) to 2.94 (95% CI 2.52 to 3.32) per 100,000 population per day. Significant reductions were seen in injuries related to sports and alcohol consumption. No admissions occurred relating to major trauma (Injury Severity Score > 16) or violence against the person. Changes in population mobility and trauma volume from baseline correlated significantly (Pearson's correlation 0.749, 95% CI 0.58 to 0.85, p < 0.001). However, admissions related to fragility fractures remained unchanged compared to the 2019 baseline. CONCLUSION: 2020;1-6:182-189.

Amplatzer Piccolo Occluder clinical trial for percutaneous closure of the patent ductus arteriosus in patients ≥700 grams

Catheterization and Cardiovascular Interventions · 2020 · 165 citations

• Medicine
• Surgery
• Cardiology

OBJECTIVES: Characterize the safety and effectiveness of the Amplatzer Piccolo Occluder for patent ductus arteriosus (PDA) closure. BACKGROUND: The presence of a hemodynamically significant PDA has been associated with an increased risk of morbidity and mortality in children born premature. METHODS: This was a single arm, prospective, multicenter, non-randomized study to evaluate the Amplatzer Piccolo Occluder to treat PDA in patients ≥700 g. From June 2017 to February 2019, 200 patients were enrolled at nine centers, with 100 patients weighing ≤2 kg. Primary effectiveness endpoint was the rate of PDA closure at 6-month follow-up. Primary safety endpoint was the rate of major complications through 6 months. Secondary endpoint was rate of significant pulmonary or aortic obstruction through 6 months' follow-up. RESULTS: The implant success rate was 95.5% (191/200) overall and 99% in patients ≤2 kg (99/100). The primary effectiveness endpoint was achieved in 99.4% of implanted patients. Four patients experienced a primary safety endpoint event (2 transfusions, 1 hemolysis, and 1 aortic obstruction). There were no branch pulmonary artery obstructions. Five patients, all ≤2 kg, were noted to have worsening of tricuspid regurgitation (TR) after the procedure. None of the TR incidences manifested clinically. The Amplatzer Piccolo Occluder received FDA approval in January 2019 and became the first device approved for PDA closure in patients ≥700 g. CONCLUSIONS: This study supports the safety and effectiveness of the Amplatzer Piccolo Occluder, particularly in patients between 700 g and 2 kg where there is currently a significant unmet need in the United States. ClinicalTrials.gov identifier: NCT03055858.

Prevalence and Cause of Early Fontan Complications: Does the Lymphatic Circulation Play a Role?

Journal of the American Heart Association · 2020 · 67 citations

• Medicine
• Cardiology
• Internal medicine

=0.001). Conclusions There is substantial morbidity in the early post-Fontan period. Half of those who developed early complications had lymphatic failure or persistent effusions unrelated to structural or functional abnormalities. Preoperative T2 imaging demonstrated that patients with higher-grade lymphatic perfusion abnormalities were significantly more likely to develop early complications. This has implications for risk stratification and optimization of patients before Fontan palliation.

Transcatheter Pulmonary Valve Replacement With the Sapien Prosthesis

Journal of the American College of Cardiology · 2020 · 96 citations

• Medicine
• Internal medicine
• Cardiology