Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese ?-thalassemia mutations

2005 ◽  
Vol 78 (4) ◽  
pp. 249-255 ◽  
Author(s):  
Urvashi Bhardwaj ◽  
Yao-Hua Zhang ◽  
Fred Lorey ◽  
Linda L. McCabe ◽  
Edward R.B. McCabe
Keyword(s):  
African American ◽  
Newborn Screening ◽  
Asian Indian ◽  
Molecular Genetic ◽  
Southeast Asian ◽  
Confirmatory Testing ◽  
The Common

Relating regional crises and political cohesion from an ASEAN and EU-ASEAN perspective

2016 ◽  
Vol 6 (3) ◽  
pp. 93-105
Author(s):  
Naila Maier-Knapp
Keyword(s):  
Economic Growth ◽  
Developing Countries ◽  
Institutional Development ◽  
International Community ◽  
Southeast Asian ◽  
Regional Level ◽  
Asian Region ◽  
Common Concern ◽  
The Common ◽  
Regional Grouping

In December 2015, the Association of Southeast Asian Nations (ASEAN) celebrated the official establishment of the ASEAN Community. Having emerged in 1967 as a regional grouping of developing countries with minimal shared interests—beyond the common concern of economic growth and national resilience, ASEAN now has established regional structures which have been vital in enhancing development and dialogue on a broad range of issues across the Southeast Asian region. Over the years, the institutional development at the regional level has been accompanied by various efforts to promote regional unity and identity. The more recent years have also displayed that the international community has been supporting these efforts for ASEAN unity and identity by showing greater recognition of ASEAN as an international actor in its own right, for example, through the establishment of numerous country delegations to ASEAN.

A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

2021 ◽  
Vol 42 (5) ◽  
pp. 626-638
Author(s):  
Babi R. R. Nallamilli ◽  
Alka Chaubey ◽  
C. A. Valencia ◽  
Leah Stansberry ◽  
Andrea M. Behlmann ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Genomic Sequence ◽  
Confirmatory Testing ◽  
Dmd Gene ◽  
Entire Genomic Sequence

scholarly journals Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines

2021 ◽  
Vol 7 (2) ◽  
pp. 30
Author(s):  
Carmencita D. Padilla ◽  
Bradford L. Therrell ◽  
Maria Melanie Liberty B. Alcausin ◽  
Reynaldo C. de Castro ◽  
Maria Beatriz P. Gepte ◽  
...  
Keyword(s):  
Newborn Screening ◽  
High Performance ◽  
Population Data ◽  
The Philippines ◽  
Successful Implementation ◽  
Clinical Experiences ◽  
Term Care ◽  
Confirmatory Testing ◽  
Newborn Bloodspot Screening

The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions. Expertise and experiences from other NBS programs already screening for hemoglobinopathies were essential to its successful integration into the ongoing dried bloodspot NBS program in the Philippines. Building on clinical experiences and population data from Filipinos born in California, USA, hemoglobinopathies (including thalassemias) were selected for inclusion in the expanded screening panel. Hemoglobinopathy NBS, using high performance liquid chromatography, was implemented in a stepwise manner into the seven regional NBS screening laboratories. A central university laboratory provides confirmatory testing using both capillary electrophoresis and molecular methodologies. NBS results indicating carriers are followed up with educational fact sheets, while results of presumptive disease are referred for confirmatory testing and follow-up with a hematologist. Long-term care is provided through newborn screening continuity clinics across the country. Hemoglobinopathy NBS is now included in the national insurance package and screening uptake continues to increase nationally, exceeding 90% of all newborns in 7400+ hospitals and birthing centers nationwide prior to the COVID-19 pandemic.

Markers of steroid resistance of the primary nephrotic syndrome in children

2021 ◽  
Vol 19 (1) ◽  
pp. 15-21
Author(s):  
S. L. Morozov ◽  
◽  
V. V. Dlin ◽  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Therapy ◽  
Molecular Genetic ◽  
Clinical Importance ◽  
Recent Decade ◽  
Immunosuppressive Drugs ◽  
Steroid Resistance ◽  
Primary Nephrotic Syndrome ◽  
Non Invasive ◽  
The Common

The global task of the recent decade is to search for clinical and laboratory markers accurately showing a patient’s reaction to steroid therapy and other immunosuppressive drugs. It is important the applied methods and tests to be non-invasive and simple to use. The article considers various biomarkers used to verify the type of nephrotic syndrome depending on the sensitivity to steroid therapy. Besides the common markers, which are used in clinical practice or have shown a significant result, the work highlights the molecular- genetic markers of resistance to steroid therapy, which are of special clinical importance today. Also, the article presents authors’ own results in diagnosing the steroid resistance of the primary nephrotic syndrome.

scholarly journals Potential Conflict Among ASEAN Member States in The Implementation of The ASEAN Economic Community

2017 ◽  
Vol 20 (3) ◽  
pp. 236
Author(s):  
Sugiarto Pramono ◽  
Anna Yulia Hartati ◽  
Adi Joko Purwanto
Keyword(s):  
Free Market ◽  
Structural Realism ◽  
Southeast Asian ◽  
Economic Community ◽  
Potential Conflict ◽  
Common Assumption ◽  
Asean Member ◽  
Conflict Situations ◽  
The Common ◽  
Asean Economic Community

The findings in this article defy the common assumption that the free market, including the formation of the ASEAN Economic Community (AEC) in Southeast Asia, is correlated with the creation of a spillover and complex interdependency, reducing conflicts between countries in the region. This finding could well contribute as a theory in the academic sphere and as policies in the practical world. The author uses a theoretical framework of structural realism to explain the potential conflict between countries of the Southeast Asian region. There are four potential conflict situations among countries in the implementation of AEC: firstly, the structure of economic disparity. This situation would construct an identity of in-group – out-group or “us” versus “them” in the context of who gains and loses in the AEC. Secondly, similarity of natural resources. This fact led the Southeast Asian countries to compete and create standardization wherein each party is in hostile competition to claim valid findings and arguments associated with efforts to reduce or stop the flow of imports into their respective countries. Thirdly, competition among businesses, in which AEC constructed free market could potentially provoke the emergence of regional trading cartel. Fourthly, the structure of military power. Historical records show that any economic growth occurring in a country will be accompanied by the growth of its military budget.

scholarly journals National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary

2009 ◽  
Vol 55 (9) ◽  
pp. 1615-1626 ◽  
Author(s):  
Dennis J Dietzen ◽  
Piero Rinaldo ◽  
Ronald J Whitley ◽  
William J Rhead ◽  
W Harry Hannon ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Tandem Mass Spectrometry ◽  
Organic Acids ◽  
Newborn Screening ◽  
Tandem Mass ◽  
Confirmatory Testing ◽  
The Us ◽  
The Impact

Abstract Background: Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tests are designed to be sufficiently sensitive so that cases are not missed. The NACB recognized a need for standard guidelines for laboratory confirmation of a positive newborn screen such that all babies would benefit from equal and optimal follow-up by confirmatory testing. Methods: A committee was formed to review available data pertaining to confirmatory testing. The committee evaluated previously published guidelines, published methodological and clinical studies, clinical case reports, and expert opinion to support optimal confirmatory testing. Grading was based on guidelines adopted from criteria derived from the US Preventive Services Task Force and on the strength of recommendations and the quality of the evidence. Three primary methods of analyte measurement were evaluated for confirmatory testing including measurement of amino acids, organic acids, and carnitine esters. The committee graded the evidence for diagnostic utility of each test for the screened conditions. Results: Ample data and experience were available to make strong recommendations for the practice of analyzing amino acids, organic acids, and acylcarnitines. Likewise, strong recommendations were made for the follow-up test menu for many disorders, particularly those with highest prevalence. Fewer data exist to determine the impact of newborn screening on patient outcomes in all but a few disorders. The guidelines also provide an assessment of developing technology that will fuel a refinement of current practice and ultimate expansion of the diseases detectable by tandem mass spectrometry. Conclusions: Guidelines are provided for optimal follow-up testing for positive newborn screens using tandem mass spectrometry. The committee regards these tests as reliable and currently optimal for follow-up testing. .

scholarly journals Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis—implications for process quality and patient care

2020 ◽  
Author(s):  
Gwendolyn Gramer ◽  
Inken Brockow ◽  
Christiane Labitzke ◽  
Junmin Fang-Hoffmann ◽  
Andreas Beivers ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Patient Care ◽  
Tracking System ◽  
Process Quality ◽  
Federal State ◽  
Cost Calculation ◽  
Confirmatory Testing ◽  
Before And After

Abstract Newborn screening for cystic fibrosis (CF-NBS) was introduced in Germany in 2016. Currently, systematic follow-up of positive CF-NBS results is not implemented or reimbursed in the NBS program. We investigated results of confirmatory testing over 24 months after implementation of CF-NBS for a large German NBS center before and after introduction of an active tracking system and performed a cost calculation for tracking. Results are compared with the federal state of Bavaria, where a centralized tracking system has been in place for many years. At the NBS center, 244 of 281,907 children had a positive CF-NBS result requiring diagnostic confirmation. Before implementation of a telephone tracking system, only 43% of confirmatory results were returned despite repeated written requests. The consecutive strategy including telephone tracking led to an increase of resolved cases to 84%. However, the centralized tracking system in Bavaria, assigning children with positive CF-NBS directly to a responsible CF-center, resolved 99% of cases. The calculated additional cost for a tracking system in Germany including telephone tracking is 1.20€ per newborn screened. Conclusion: The implementation of a tracking system achieves a distinct improvement in CF-NBS with justifiable costs. The effect can be limited by absence of centralized organization of confirmatory testing. What is Known:• Newborn screening for cystic fibrosis (CF-NBS) has been performed for many years in several countries worldwide• While many studies have focused on different CF-NBS strategies, the organization of confirmatory testing and process quality concerning returned information to the NBS center has so far received less attention. What is New:• The implementation of an active tracking system achieves a distinct improvement of clarified cases after positive CF-NBS with justifiable costs.• The effect of a tracking system can be limited by the absence of a centralized organization of confirmatory testing.

scholarly journals Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

2018 ◽  
Vol 123 (2) ◽  
pp. S21
Author(s):  
Stephanie Austin ◽  
Mugdha Rairikar ◽  
Laura Case ◽  
Lauren Bailey ◽  
Zoheb Kazi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
The Common ◽  
C 32 ◽  
Insight Into
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