scholarly journals Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses

2020 ◽  
Vol 6 (2) ◽  
pp. 28 ◽  
Author(s):  
Olaf Sommerburg ◽  
Jutta Hammermann

There are currently four countries and one local region in Europe that use PAP in their newborn screening programme. The first country to employ PAP at a national level was the Netherlands, which started using IRT/PAP/DNA/EGA in 2011. Germany followed in 2016 with a slightly different IRT/PAP/DNA strategy. Portugal also started in 2016, but with an IRT/PAP/IRT programme, and in 2017, Austria changed its IRT/IRT protocol to an IRT/PAP/IRT program. In 2018, Catalonia started to use an IRT/PAP/IRT/DNA strategy. The strengths of PAP are the avoidance of carrier detection and a lower detection rate of CFSPID. PAP seems to have advantages in detecting CF in ethnically-diverse populations, as it is a biochemical approach to screening, which looks for pancreatic injury. Compared to an IRT/IRT protocol, an IRT/PAP protocol leads to earlier diagnoses. While PAP can be assessed with the same screening card as the first IRT, the second IRT in an IRT/IRT protocol requires a second heel prick around the 21st day of the patient’s life. However, IRT/PAP has two main weaknesses. First, an IRT/PAP protocol seems to have a lower sensitivity compared to a well-functioning IRT/DNA protocol, and second, IRT/PAP that is performed as a purely biochemical protocol has a very low positive predictive value. However, if the advantages of PAP are to be exploited, a combination of IRT/PAP with genetic screening or a second IRT as a third tier could be an alternative for a sufficiently performing CF-NBS protocol.

2019 ◽  
Author(s):  
A.A. Nilanga Nishad ◽  
S.A. Hewage ◽  
K. Arulmoly ◽  
M.S. Amaratunge ◽  
J de Silva ◽  
...  

AbstractOut of 39 billion people who are blind around the world, 20 billion (51.3%) is due to cataract, which is preventable. This study intended to assess the prevalence and factors associated with cataract among elderly in a divisional secretariat area in Sri Lanka. This community based cross sectional study assessed randomly selected470 adults over 60 years of age. Diagnosis of cataract was made by a slit lamp examination by medical officers, and classified according to Oxford Lens Opacity Classification system (LOCS III). Majority was between 60-69 age groups and 71% was females. The prevalence of cataract was estimated to be 80.6% including operated eye and 73.6% excluding the operated eye, with a female preponderance in lower age categories. Commonest type of cataract was the nuclear type (n=422; 44.9%), with a majority in grade 2 (218; 23.2%). The prevalence of cataract surgery in the diseased population was as low as 7%. Cataract leading to blindness is very prevalent among adults over 60 years of age in the studied area. Females tend to develop the disease at an early age than males. These findings warrant screening programme for elderly at community level, targeting females at a younger age than males. Future studies are recommended to assess the coverage and barriers for cataract surgeries at national level, which would be immensely useful in planning and improving health services.


2017 ◽  
Vol 50 (1) ◽  
pp. 217-239 ◽  
Author(s):  
Amanda Lea Robinson

AbstractEthnic diversity is generally associated with less social capital and lower levels of trust. However, most empirical evidence for this relationship is focused on generalized trust, rather than more theoretically appropriate measures of group-based trust. This article evaluates the relationship between ethnic diversity – at the national, regional and local levels – and the degree to which coethnics are trusted more than non-coethnics, a value referred to here as the ‘coethnic trust premium’. Using public opinion data from sixteen African countries, this study finds that citizens of ethnically diverse states express, on average, more ethnocentric trust. However, within countries, regional ethnic diversity is associated with less ethnocentric trust. This same negative pattern between diversity and ethnocentric trust appears across districts and enumeration areas within Malawi. The article then shows, consistent with these patterns, that diversity is only detrimental to intergroup trust at the national level when ethnic groups are spatially segregated. These results highlight the importance of the spatial distribution of ethnic groups on intergroup relations, and question the utility of micro-level studies of interethnic interactions for understanding macro-level group dynamics.


Author(s):  
Nico Steytler

This chapter argues that democratic local government embeds the culture of democracy at grassroots: as the government closest to the people, it establishes a culture of responsiveness, transparency, and accountability more readily and effectively than by holding national leaders to account. Local democracy can also be used strategically when a country seeks to move from an authoritarian or military regime to democracy. Furthermore, it provides space for political inclusivity—an argument with particular relevance in ethnically diverse societies, where a winner-takes-all paradigm of competition at the national level typically results in the marginalization of geographically concentrated losers. Finally, local government allows for experimentation in different forms of inclusive politics, be they representative or participatory. However, although most African countries have adopted decentralization policies, the dividends are meagre. Local government is but feebly equipped to play a democracy-constituting role: operating in a constrained constitutional environment, central governments have generally not allowed local governments the opportunity to hold regular free and fair elections and thereby play a role in democratization. Despite these findings, there is also some evidence that on occasion local democracy has indeed played such a role and thus enhanced democratic participation.


2007 ◽  
Vol 92 (1) ◽  
pp. 88-88 ◽  
Author(s):  
J E Gomez-Marin ◽  
M M Gonzalez ◽  
M T Montoya ◽  
A Giraldo ◽  
J C Castano

2020 ◽  
Vol 6 (3) ◽  
pp. 63
Author(s):  
Fei Lai ◽  
Shubha Srinivasan ◽  
Veronica Wiley

In Australia, all newborns born in New South Wales (NSW) and the Australia Capital Territory (ACT) have been offered screening for rare congenital conditions through the NSW Newborn Screening Programme since 1964. Following the development of the Australian Newborn Bloodspot Screening National Policy Framework, screening for congenital adrenal hyperplasia (CAH) was included in May 2018. As part of the assessment for addition of CAH, the national working group recommended a two-tier screening protocol determining 17α-hydroxyprogesterone (17OHP) concentration by immunoassay followed by steroid profile. A total of 202,960 newborns were screened from the 1 May 2018 to the 30 April 2020. A threshold level of 17OHP from first tier immunoassay over 22 nmol/L and/or top 2% of the daily assay was further tested using liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profiling for 17OHP (MS17OHP), androstenedione (A4) and cortisol. Samples with a ratio of (MS17OHP + A4)/cortisol > 2 and MS17OHP > 200 nmol/L were considered as presumptive positive. These newborns were referred for clinical review with a request for diagnostic testing and a confirmatory repeat dried blood spot (DBS). There were 10 newborns diagnosed with CAH, (9 newborns with salt wasting CAH). So far, no known false negatives have been notified, and the protocol has a sensitivity of 100%, specificity of 99.9% and a positive predictive value of 71.4%. All confirmed cases commenced treatment by day 11, with none reported as having an adrenal crisis by the start of treatment.


2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
A Doncarli ◽  
H Tillaut ◽  
V Goulet

Abstract Background The French newborn hearing screening programme set up in 2014 aims to identify affected children as early as possible to allow appropriate care. Our goal was to evaluate the implementation of this programme at the national level. Methods The programme consist in a screening using a test (T1) and a retest (T2) in the maternity hospital in all newborns. In some region, a delayed test (T3) is performed afterwards in children for whom it was not possible to confirm normal hearing. Children suspected of deafness subsequently enter the diagnosis phase. We defined evaluation indicators after stakeholders consultation. We developed a web application to collect aggregated data on live births. We estimated the rate of coverage, refusal, children suspected of hearing loss at the end of the screening phase and the prevalence of bilateral deafness. Results In 2015, one year after the initiation of the programme, the coverage rate was already very high (88%) and even more so in 2016 (96%). Parental acceptance was very good (refusal: 0.1%). By the end of 2016, 19 out 27 regions had added a T3. The rate of suspicion of bilateral hearing loss was decreased by using a T3 (1.4% vs 0.9%). Bilateral deafness rate, estimated after a 2-years follow up, was 1.3‰ although it was estimated only on 51.5% of suspected children for whom diagnosis data had been transmitted. Conclusions The objective of a 90% coverage set by the French ministry of health has been met after 2 years of operation of the program. T3 appears useful in relieving diagnostic structures from false positives. Our estimated prevalence of bilateral deafness could be more accurate if data collection was improved but is consistent with prevalence reported in North America. Key messages The universal newborn hearing screening program has been successfully set up in France in terms of coverage. Future work should focus on improving the collection of follow up data to better characterise diagnosed children.


2018 ◽  
Vol 52 ◽  
pp. 48-55 ◽  
Author(s):  
Andraz Smon ◽  
Barbka Repic Lampret ◽  
Urh Groselj ◽  
Mojca Zerjav Tansek ◽  
Jernej Kovac ◽  
...  

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