SCI Abstract

search
+
IJNS, Vol. 9, Pages 2: Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care
IJNS, Vol. 9, Pages 2: Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care
The COVID-19 pandemic has challenged healthcare systems worldwide. In the Philippines, long-term care for patients with co...
IJNS, Vol. 9, Pages 1: Remembering the Legacy of Judi Tuerck
IJNS, Vol. 9, Pages 1: Remembering the Legacy of Judi Tuerck
Judith “Judi” Tuerck, RN, MS, one of the true pioneers in the development of newborn screening (NBS), ...
IJNS, Vol. 8, Pages 66: A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
IJNS, Vol. 8, Pages 66: A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 def...
IJNS, Vol. 8, Pages 64: Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease
IJNS, Vol. 8, Pages 64: Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to incr...
IJNS, Vol. 8, Pages 63: Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
IJNS, Vol. 8, Pages 63: Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
Parents increasingly utilise the internet to obtain information on health practices, but the quality of online information...
IJNS, Vol. 8, Pages 60: Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities
IJNS, Vol. 8, Pages 60: Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities
Newborn congenital cytomegalovirus (cCMV) screening programs have been found to increase the rates of early diagnosis and ...
IJNS, Vol. 8, Pages 61: A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
IJNS, Vol. 8, Pages 61: A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal s...
IJNS, Vol. 8, Pages 59: Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
IJNS, Vol. 8, Pages 59: Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting deb...
IJNS, Vol. 8, Pages 57: Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy
IJNS, Vol. 8, Pages 57: Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy
To improve the positive predictive value (PPV) of newborn screening for 21-hydroxylase deficiency (21OHD), co-variates hav...
IJNS, Vol. 8, Pages 58: Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
IJNS, Vol. 8, Pages 58: Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is as...
IJNS, Vol. 8, Pages 56: Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
IJNS, Vol. 8, Pages 56: Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detecte...
IJNS, Vol. 8, Pages 50: Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
IJNS, Vol. 8, Pages 50: Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high prior...
IJNS, Vol. 8, Pages 54: Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input
IJNS, Vol. 8, Pages 54: Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input
Our objective was to develop and test a new approach to obtaining parental policy guidance about disclosure of incidental ...
IJNS, Vol. 8, Pages 53: Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
IJNS, Vol. 8, Pages 53: Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS...
IJNS, Vol. 8, Pages 49: Developing an Online Dashboard to Visualize Performance Data—Tennessee Newborn Screening Experience
IJNS, Vol. 8, Pages 49: Developing an Online Dashboard to Visualize Performance Data—Tennessee Newborn Screening Experience
Newborn screening (NBS) is a vital public health program and delays in the screening process can lead to catastrophic outc...
IJNS, Vol. 8, Pages 48: dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
IJNS, Vol. 8, Pages 48: dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
The Recommended Uniform Screening Panel (RUSP) contains more than forty metabolic disorders recommended for inclusion in u...
IJNS, Vol. 8, Pages 47: Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
IJNS, Vol. 8, Pages 47: Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medi...
IJNS, Vol. 8, Pages 46: Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
IJNS, Vol. 8, Pages 46: Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less C...
IJNS, Vol. 8, Pages 45: Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
IJNS, Vol. 8, Pages 45: Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, inherited genetic disorders with sever...
IJNS, Vol. 8, Pages 44: Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency
IJNS, Vol. 8, Pages 44: Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency
Evidence on the cost-effectiveness of newborn screening (NBS) for severe combined immunodeficiency (SCID) in the Australia...
IJNS, Vol. 8, Pages 39: Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
IJNS, Vol. 8, Pages 39: Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingo...
IJNS, Vol. 8, Pages 37: William Harry Hannon—A Life Well Lived
IJNS, Vol. 8, Pages 37: William Harry Hannon—A Life Well Lived
Dr [...]
IJNS, Vol. 8, Pages 33: Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
IJNS, Vol. 8, Pages 33: Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in...
IJNS, Vol. 8, Pages 34: Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity
IJNS, Vol. 8, Pages 34: Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity
Educating parents about the newborn screening (NBS) process is critical in ensuring that families are aware of their child...
IJNS, Vol. 8, Pages 32: A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
IJNS, Vol. 8, Pages 32: A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
Cystic fibrosis (CF) has been included within the UK national newborn screening programme since 2007. The approach uses me...
IJNS, Vol. 8, Pages 27: Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode
IJNS, Vol. 8, Pages 27: Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subf...
IJNS, Vol. 8, Pages 25: A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
IJNS, Vol. 8, Pages 25: A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to...
IJNS, Vol. 8, Pages 24: Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
IJNS, Vol. 8, Pages 24: Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD...
IJNS, Vol. 8, Pages 23: Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic
IJNS, Vol. 8, Pages 23: Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic
Seven months after the launch of a pilot study to screen newborns for Duchenne Muscular Dystrophy (DMD) in New York State,...
IJNS, Vol. 8, Pages 22: Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
IJNS, Vol. 8, Pages 22: Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exe...
Load More
format_indent_increase