scholarly journals Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
Stephen F. Kingsmore ◽  
Audrey Henderson ◽  
Mallory J. Owen ◽  
Michelle M. Clark ◽  
Christian Hansen ◽  
...  

Abstract Understanding causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research. Rapid genomic sequencing has created a novel opportunity to decrease infant mortality associated with treatable genetic diseases. Herein, we sought to measure the contribution of genetic diseases to mortality among infants by secondary analysis of babies enrolled in two clinical studies and a systematic literature review. Among 312 infants who had been admitted to an ICU at Rady Children’s Hospital between November 2015 and September 2018 and received rapid genomic sequencing, 30 (10%) died in infancy. Ten (33%) of the infants who died were diagnosed with 11 genetic diseases. The San Diego Study of Outcomes in Mothers and Infants platform identified differences between in-hospital and out-of-hospital causes of infant death. Similarly, in six published studies, 195 (21%) of 918 infant deaths were associated with genetic diseases by genomic sequencing. In 195 infant deaths associated with genetic diseases, locus heterogeneity was 70%. Treatment guidelines existed for 70% of the genetic diseases diagnosed, suggesting that rapid genomic sequencing has substantial potential to decrease infant mortality among infants in ICUs. Further studies are needed in larger, comprehensive, unbiased patient sets to determine the generalizability of these findings.

PEDIATRICS ◽  
1949 ◽  
Vol 3 (5) ◽  
pp. 722-728

THE infant mortality rate in 1947 was the lowest on record, according to figures released by the National Office of Vital Statistics of the Public Health Service, Federal Security Agency. The number of deaths under one year recorded in the United States during 1947 was 119,173, or 8,110 more than the number (111,063) reported in 1946. However, this increase reflects the tremendous increase in the number of births during 1947 and not a rise in infant mortality. The relative frequency of infant deaths as [SEE TABLE 1,2 and 3 IN SOURCE PDF] measured by the infant mortality rate decreased from 33.8 per 1,000 live births in 1946 to 32.2 in 1947. Provisional figures indicate a further decline in 1948 to an estimated rate of 31.8. The five leading causes of infant deaths in 1947 and the infant mortality rates for each are: premature birth, 11.1 ; congenital malformations, 4.6; pneumonia and influenza, 3.6; injury at birth, 3,5; and asphyxia and atelectasis, 1.6. These leading causes accounted for 75.7% of all the infant deaths in 1947. This was the first year that asphyxia and atelectasis ranked among the five leading causes of infant deaths and that diarrhea, enteritis and ulceration of the intestines has not been in this group. The number of deaths [See Table 4 in source pdf] under one you and infant mortality rates for selected causes in the United States during 1946 and 1947 are presented in Table 2. The relative frequency of deaths under one year is greatest for the under one day age group and decreases steadily with age. Mortality is higher among nonwhite than white infants deaths and among male than female infants. The number of infants deaths and infant mortality rates in the United States for 1947 by subdivisions of the first year of life, race, and sex, are shown in Table 1.


Author(s):  
Nick J. Fox ◽  
Katie Powell

The substantial literature on interactions between places/spaces and well-being/health often differentiate between physical and social aspects of geographical location. This paper sidesteps this dualism, instead considering places as sociomaterial assemblages of human and non-human materialities. It uses this posthuman and ‘new materialist’ perspective to explore how place-assemblages affect human capacities, in terms of both health and social dis/advantage. Based on secondary analysis of interview data on human/place interactions, it analyses the physical, sociocultural, psychological and emotional effects of place-assemblages, assessing how these produce opportunities for, and constraints upon human bodies. It than assesses how these emergent capacities affect both social dis/advantage and well-being. This analysis of how place-assemblages contribute positively or negatively to health and dis/advantage offers possibilities for further research and for social and public health policy.


2001 ◽  
Vol 9 (6) ◽  
pp. 507-509 ◽  
Author(s):  
Rob Baggott ◽  
David J Hunter

2005 ◽  
Author(s):  
Leslie A. Crimin ◽  
Carol T. Miller

2018 ◽  
Vol 6 (3) ◽  
pp. 1
Author(s):  
Kok Wooi Yap ◽  
Doris Padmini Selvaratnam

This study aims to investigate the determinants of public health expenditure in Malaysia. An Autoregressive Distributed Lag (ARDL) approach proposed by Pesaran & Shin (1999) and Pesaran et al. (2001) is applied to analyse annual time series data during the period from 1970 to 2017. The study focused on four explanatory variables, namely per capita gross domestic product (GDP), healthcare price index, population aged 65 years and above, as well as infant mortality rate. The bounds test results showed that the public health expenditure and its determinants are cointegrated. The empirical results revealed that the elasticity of government health expenditure with respect to national income is less than unity, indicating that public health expenditure in Malaysia is a necessity good and thus the Wagner’s law does not exist to explain the relationship between public health expenditure and economic growth in Malaysia. In the long run, per capita GDP, healthcare price index, population aged more than 65 years, and infant mortality rate are the important variables in explaining the behaviour of public health expenditure in Malaysia. The empirical results also prove that infant mortality rate is significant in influencing public health spending in the short run. It is noted that macroeconomic and health status factors assume an important role in determining the public health expenditure in Malaysia and thus government policies and strategies should be made by taking into account of these aspects.


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