The objective was to evaluate the overall economic burden of spinal muscular atrophy (SMA) in Singapore. A retrospective cohort study of electronic medical records and billing data was used to obtain medical costs from public healthcare consumption. Private medical costs, nonmedical costs from transportation and hired domestic helpers, and indirect costs due to caregiver productivity loss were estimated with a cross-sectional caregiver survey. The survey also examined intangible negative and positive effects on these caregivers. All costs were adjusted to 2024 Singapore dollar (SGD). A total of 61 patients were identified in the electronic medical records, and 15 caregivers were interviewed. One caregiver who took care of two patients with SMA was excluded from the analysis. The gross cost of inpatient admission is SGD 1663.81 (standard deviation [SD] = 986.03) per day with mean length of stay of 6.22 days (SD = 10.89) per year, while annual mean outpatient cost is SGD 940.31 (SD = 1071.28). In addition to public healthcare services, private services incur an additional SGD 5992.35 (SD = 7557.33) per year, with fixed costs for respiratory devices and mobility aids at SGD 5677.06 (SD = 4519.57) and SGD 12,412.70 (SD = 8307.35), respectively. Nonmedical costs from hiring a domestic helper, medical-related transport, and nonmedical transport amount to SGD 7002.22 (SD = 6516.36), SGD 387.86 (SD = 196.36), and SGD 840.95 (SD = 1067.81) per annum, respectively. Paid work productivity loss is estimated at SGD 42,932.88 per family per year. Average overall economic burden is estimated at SGD 62,004.03, SGD 10,840.13, and SGD 59,629.64 per patient per year from the societal perspective, healthcare system perspective, and patient perspective, respectively. SMA poses a significant economic burden on patients, families, and the healthcare system. This study informs policy discussions for SMA management, advocating for a comprehensive, compassionate approach and societal perspective in economic evaluations to capture all costs and benefits.
OBJECTIVES:To update evidence-based management recommendations for clinicians caring for children (including infants, school-aged children, and adolescents) with sepsis or septic shock. DESIGN:A panel of 68 international experts, representing 13 international organizations, as well as six methodologists, was convened. A formal conflict-of-interest policy was developed at the onset of the process and applied throughout. Teleconferences and electronic-based discussion among the chairs, co-chairs, methodologists, and subgroup leads as well as within subgroups, served as an integral part of the guideline development process. METHODS:New priority topics and recommendations from the prior guideline iteration were used to identify Population, Intervention, Control, and Outcomes (PICO) questions likely to have new or updated evidence. We conducted a systematic review to identify the best available evidence, summarized the evidence, and then assessed the quality of evidence using the Grading of Recommendations, Assessment, Development, and Evaluation approach. We used the evidence-to-decision framework to formulate recommendations as strong or conditional, or as a good practice statement. "In our practice," statements were included when evidence was inconclusive to issue a recommendation but the panel felt that some guidance based on practice patterns may be appropriate. RESULTS:The panel provided 61 statements on the management of children with sepsis or septic shock. Overall, five were strong recommendations, 24 were conditional recommendations, and ten were good practice statements. For 22 PICO questions, no recommendations could be made, but, for seven of these, "in our practice" statements were provided. Compared with the 2020 guidelines, 20 recommendations were new, 13 were updated for clarity and/or new evidence, six were reviewed but not changed, and 22 were carried forward based on consensus of the panel that new evidence was not available. Only three recommendations were based on high or moderate certainty of evidence. CONCLUSIONS:Updated management guidelines were issued by a panel of international experts for the best care of children with sepsis or septic shock, acknowledging that most aspects of care continue to have relatively low quality of evidence.
IntroductionThe promise of precision medicine lies in its ability to provide greater diagnostic accuracy and customized therapy by filtering out patients less likely to benefit from it. Our study focuses on the importance of reducing uncertainty in interpretation of individuals 3D facial data to support more equitable precision medicine applications. The Human Genome Project and subsequent advances in sequencing have led to the creation of vast genetic datasets, predominantly representing individuals of European origin. However, there is a significant underrepresentation of individuals of African, Asian, and Indigenous ancestries.MethodsThe study involved 1,218 participants from various genetic ancestries backgrounds, with a focus on the paediatric population of Chinese genetic ancestry. The study subjects underwent 3D facial photogrammetry in outpatient department setting and with the aid of Cliniface software growth curves were obtained to produce reference statistics of 3D facial norms.ResultsThe results showed measurable and distinct facial differences in children with Chinese genetic ancestry when compared with other groups representing different genetic ancestries highlighting the need for population diversity and inclusion enrichment in genetic databases. Also, these facial differences and markers are uniquely poised to be correlated in clinic as disease specific digital biomarkers with further investigation and validation in conditions such as hereditary angioedema.DiscussionThe study underscores the importance of creating larger datasets involving more diverse genetic ancestry groups to enhance the evidence base for advanced and equitable disease diagnosis, treatment monitoring, prognostication and customized drug development.
BACKGROUND:Children with febrile urinary tract infection (UTI) are at increased risk of kidney scarring which can be identified by a late dimercaptosuccinic acid (DMSA) scan performed ≥ 3 months after the febrile UTI. In this study, we developed a clinical risk prediction model to identify children at risk of an abnormal late DMSA scan after the first febrile UTI. METHODS:This is a retrospective cohort study of all children diagnosed with their first febrile UTI between January and July 2017, scheduled for a late DMSA scan. Patient characteristics and laboratory findings were compared between patients with and without abnormalities on the DMSA scan. A clinical risk prediction model was developed using the odds ratio of variables in a multivariable logistic regression model to obtain a score for each covariate. RESULTS:There were 581 children diagnosed with their first febrile UTI, of which 208 (36%) underwent DMSA scan. Overall, 40 (19%) children had abnormal DMSA scans. A higher proportion of boys with phimosis compared to those without phimosis had DMSA abnormalities (67% vs. 38%, p = 0.019). C-reactive protein (CRP) (108.0 [interquartile range, IQR 41.4-198.4] vs. 32.6 [IQR 11.4-85.2] mg/L, p < 0.001), procalcitonin (10.98 [IQR 0.40-43.72] vs. 0.13 [IQR 0.10-0.24] ng/mL, p < 0.001) and creatinine (41 [IQR 37-46] vs. 37 [IQR 35-40] μmol/L, p < 0.001) were higher in patients with DMSA abnormalities. The clinical risk prediction model included procalcitonin ≥ 4.07 μg/L, creatinine ≥ 43 μmol/L and CRP ≥ 90.4 mg/L. CONCLUSION:Serum creatinine, procalcitonin and CRP may be useful in identifying paediatric patients with first febrile UTI at risk of an abnormal late DMSA scan.
