Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.

INTRODUCTION/AIMS: Boys with Duchenne muscular dystrophy (DMD) are at increased risk of fracture. This study investigated the incidence of fractures, factors contributing to risk of first fracture with emphasis on body mass index (BMI), and the impact of fractures on functional capacity in an Australian cohort of boys with DMD. METHODS: A retrospective cohort study included boys with DMD who attended a pediatric neuromuscular clinic from 2011 to 2018. Information regarding fractures, anthropometry measurements, body composition and functional assessment was collected. Factors associated with first fracture risk were analyzed with Cox-proportional hazards. Longitudinal analysis of function post-fracture was also conducted. RESULTS: This study included 155 boys with DMD. At least one fracture occurred in 71 (45%) boys; overall incidence of fractures was 399-per-10,000 persons-years. The first fracture was vertebral in 55%; 41% had non-vertebral fractures and 4% had both. Vertebral fractures occurred in significantly older (12.28 vs 9.28 y) boys with longer exposure to glucocorticoids (5.45 vs 2.50 y) compared to non-vertebral fractures. Boys with a history of fracture(s) had a steeper rate of functional decline (measured by Northstar Ambulatory Assessment score) than those with no recorded fractures. DISCUSSION: A high fracture burden was observed in a large Australian cohort of boys with DMD. Further investigation is required to understand preventative strategies and modifiable risk factors to reduce the incidence of fractures in DMD. The impact on fractures on ambulatory capacity should be closely monitored.

Lessons to be learned: Using National Immunisation strategies to improve adherence to acute rheumatic fever secondary prophylaxis.

Rheumatic heart disease, as a result of a single or recurrent episode of acute rheumatic fever (ARF), remains a significant cause of morbidity and mortality in northern and remote Australia; ARF has a peak incidence among 5-14-year-old Aboriginal and Torres Strait Islander children. Long-term regular benzathine penicillin G injections are the only currently successful secondary prevention strategy; however, rates of adherence remain critically low. In contrast, rates of adherence to immunisations on the National Immunisation Program (NIP) Schedule are high, even among this target population. This article compares strategies used to implement and improve ARF secondary prophylaxis with those used in the NIP. Some successful NIP strategies, such as Service Incentive Payment for health providers, home-visiting delivery models and integration into the National Immunisation Register, if applied to ARF secondary prophylaxis have the potential to improve benzathine penicillin G adherence.

Adherence to secondary prevention of rheumatic fever and rheumatic heart disease in young people: an 11-year retrospective study.

OBJECTIVES: To evaluate the secondary prevention of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) in the Townsville region, Australia. METHODS: Adherence to benzathine benzylpenicillin G (BPG) was determined for 196 children and young adults aged under 22 years between January 2009 and December 2019, and factors associated with BPG adherence were analysed. Secondary outcomes included attendance at specialist reviews and echocardiograms. RESULTS: Adequate adherence (80%) to regular BPG injections was met by 51.1% of the cohort. Adequate BPG adherence more likely occurred for those that attended the Paediatric Outreach Clinic (OR4.15, 95%CI:2.13-8.05) or a school delivery program (OR1.87, 95%CI:1.11-3.45). People with moderate/severe RHD had greater BPG adherence (OR1.76,95%CI:1.00-3.10). People in rural/remote areas were less likely to have adequate BPG adherence compared to urban counterparts (OR0.31, 95%CI:0.15-0.65). Adherence to echocardiography was 66% and specialist review attendance was 12.5-50%. CONCLUSION: Half of the cohort in the Townsville region received adequate BPG prophylaxis to prevent ARF/RHD. Although rates were relatively higher than those reported in other Australian regions, health delivery goals should be close to 100%. Low attendance at specialist services was reported. Implication for public health: Delivery models with dedicated services, case management and family support could improve BPG adherence in individuals with ARF/RHD. Further resources in rural and remote areas are needed.

Rheumatic heart disease in pregnancy and neonatal outcomes: A systematic review and meta-analysis.

PURPOSE: Associations between rheumatic heart disease (RHD) in pregnancy and fetal outcomes are relatively unknown. This study aimed to review rates and predictors of major adverse fetal outcomes of RHD in pregnancy. METHODS: Medline (Ovid), Pubmed, EMcare, Scopus, CINAHL, Informit, and WHOICTRP databases were searched for studies that reported rates of adverse perinatal events in women with RHD during pregnancy. Outcomes included preterm birth, intra-uterine growth restriction (IUGR), low-birth weight (LBW), perinatal death and percutaneous balloon mitral valvuloplasty intervention. Meta-analysis of fetal events by the New-York Heart Association (NYHA) heart failure classification, and the Mitral-valve Area (MVA) severity score was performed with unadjusted random effects models and heterogeneity of risk ratios (RR) was assessed with the I2 statistic. Quality of evidence was evaluated using the GRADE approach. The study was registered in PROSPERO (CRD42020161529). FINDINGS: The search identified 5949 non-duplicate records of which 136 full-text articles were assessed for eligibility and 22 studies included, 11 studies were eligible for meta-analyses. In 3928 pregnancies, high rates of preterm birth (9.35%-42.97%), LBW (12.98%-39.70%), IUGR (6.76%-22.40%) and perinatal death (0.00%-9.41%) were reported. NYHA III/IV pre-pregnancy was associated with higher rates of preterm birth (5 studies, RR 2.86, 95%CI 1.54-5.33), and perinatal death (6 studies, RR 3.23, 1.92-5.44). Moderate /severe mitral stenosis (MS) was associated with higher rates of preterm birth (3 studies, RR 2.05, 95%CI 1.02-4.11) and IUGR (3 studies, RR 2.46, 95%CI 1.02-5.95). INTERPRETATION: RHD during pregnancy is associated with adverse fetal outcomes. Maternal NYHA III/IV and moderate/severe MS in particular may predict poor prognosis.