Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.5K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K
Design Example: Resistive Touchscreen01:14

Design Example: Resistive Touchscreen

650
A device engineer plays a crucial role in designing user interfaces for mobile devices. One such interface is the resistive touchscreen, which fundamentally consists of two metallic layers: a flexible upper layer and a rigid lower layer, separated by a narrow gap. The high resistance between these two layers is a key characteristic of this design.
When a user touches the screen, the two layers make contact at a specific point known as the touchpoint. This contact reduces the resistance between...
650
Guidelines and Strategies for Safe Computer Charting01:18

Guidelines and Strategies for Safe Computer Charting

2.6K
The guidelines and strategies provided by the American Nurses Association (ANA) and the Canadian Nurses Association (CNA) offer essential principles for ensuring safe and secure computer charting systems in healthcare settings. Let's break down each recommendation:
Maintain Confidentiality and Security:
2.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Commentary: What degree of hyperphenylalaninaemia requires treatment?

Journal of inherited metabolic disease·2012
Same author

Newborn blood spot screening: new opportunities, old problems.

Journal of inherited metabolic disease·2009
Same author

Qualitative urinary organic acid analysis: methodological approaches and performance.

Journal of inherited metabolic disease·2008
Same author

Population quantile-quantile plots for monitoring assay performance in newborn screening.

Journal of inherited metabolic disease·2007
Same author

International perspectives on newborn screening.

Journal of inherited metabolic disease·2006
Same author

Newborn screening for cystic fibrosis: science, legislation, and human values.

Journal of inherited metabolic disease·2004
Same journal

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.

Journal of inherited metabolic disease·2026
Same journal

Immune Dysregulation in Branched Chain Organic Acidemias.

Journal of inherited metabolic disease·2026
Same journal

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Journal of inherited metabolic disease·2026
Same journal

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal of inherited metabolic disease·2026
Same journal

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Journal of inherited metabolic disease·2026
Same journal

Gaucher Disease Treated With Lentiviral-Mediated Gene Therapy: First Case.

Journal of inherited metabolic disease·2026
See all related articles

Related Experiment Video

Updated: Dec 28, 2025

Development of a Gaze-Contingent Display Framework Designed for Perceptual and Oculomotor Research with Simulated Central Vision Loss
07:12

Development of a Gaze-Contingent Display Framework Designed for Perceptual and Oculomotor Research with Simulated Central Vision Loss

Published on: April 11, 2025

798

Introducing new screens: why are we all doing different things?

R J Pollitt1

  • 1Sheffield Children's Hospital, Sheffield, UK. rodney.pollitt@sch.nhs.uk

Journal of Inherited Metabolic Disease
|July 10, 2007
PubMed
Summary
This summary is machine-generated.

Newborn blood spot screening panels differ significantly worldwide due to varying interpretations of established principles and data. This leads to disparities in screening value judgments compared to clinical practice.

More Related Videos

Collecting Sleep, Circadian, Fatigue, and Performance Data in Complex Operational Environments
08:36

Collecting Sleep, Circadian, Fatigue, and Performance Data in Complex Operational Environments

Published on: August 8, 2019

12.6K
Integrating Visual Psychophysical Assays within a Y-Maze to Isolate the Role that Visual Features Play in Navigational Decisions
07:09

Integrating Visual Psychophysical Assays within a Y-Maze to Isolate the Role that Visual Features Play in Navigational Decisions

Published on: May 2, 2019

6.4K

Related Experiment Videos

Last Updated: Dec 28, 2025

Development of a Gaze-Contingent Display Framework Designed for Perceptual and Oculomotor Research with Simulated Central Vision Loss
07:12

Development of a Gaze-Contingent Display Framework Designed for Perceptual and Oculomotor Research with Simulated Central Vision Loss

Published on: April 11, 2025

798
Collecting Sleep, Circadian, Fatigue, and Performance Data in Complex Operational Environments
08:36

Collecting Sleep, Circadian, Fatigue, and Performance Data in Complex Operational Environments

Published on: August 8, 2019

12.6K
Integrating Visual Psychophysical Assays within a Y-Maze to Isolate the Role that Visual Features Play in Navigational Decisions
07:09

Integrating Visual Psychophysical Assays within a Y-Maze to Isolate the Role that Visual Features Play in Navigational Decisions

Published on: May 2, 2019

6.4K

Area of Science:

  • Medical Genetics
  • Public Health Policy

Background:

  • Newborn blood spot screening (NBSS) is a crucial public health initiative.
  • Significant international variation exists in the scope of diseases included in NBSS programs.

Purpose of the Study:

  • To analyze the heterogeneity in disease panels across different countries for newborn blood spot screening.
  • To investigate the underlying reasons for these variations, including differing interpretations of screening principles and data.

Main Methods:

  • Comparative analysis of national NBSS guidelines and protocols.
  • Literature review of scientific publications on Wilson and Jungner screening principles.
  • Examination of value judgments in screening versus clinical practice.

Main Results:

  • Disease panels in NBSS show considerable international divergence.
  • Varied interpretations of the Wilson and Jungner principles contribute to these differences.
  • Discrepancies are evident between the value judgments in screening and routine clinical practice.

Conclusions:

  • The lack of standardized NBSS panels poses challenges for global health equity.
  • Harmonizing screening criteria requires addressing divergent interpretations of evidence and ethical considerations.
  • Aligning screening practices with clinical realities is essential for optimizing newborn health outcomes.