Asymptomatic ASS1 carriers with high blood citrulline levels.

Introduction: Citrullinemia Type 1 (CTLN1) is an autosomal recessive disorder caused by variants in the ASS1 gene. This study intends to clarify the etiology of false positives in newborn screening for citrullinemia.

Method: Newborns who had elevated dried-blood spot citrulline levels were enrolled, and medical records were reviewed retrospectively.

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.

Objective: To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

Study Design: A prospective observational cohort study was conducted from the initiation of Pompe disease NBS by following subjects every 3-12 months for motor development and biochemical markers.

Results: Between 2005 and 2018, 39 of 994 975 newborns evaluated were classified as having LOPD based on low acid α-glucosidase (GAA) activity but no cardiac involvement at the time of screening.

When and how do healthcare professionals introduce specialist palliative care to the families of children with life-threatening conditions in Taiwan? A qualitative study.

Background: Specialist palliative care (SPC) is often needed to manage complex or refractory problems in children with life-threatening conditions during end-of-life. This study explores the perceptions of healthcare professionals (HPs) to determine the triggers leading to and experiences with introducing SPC among families of children with life-threatening conditions.

Methods: A secondary analysis of 13 semi-structured interviews with HPs conducted from September 2019-June 2020 was carried out in a pediatric ward and a neonatal and pediatric intensive care unit in Taiwan.

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan.

Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass assay. From 2016 to 2019, 14 newborns were reported as high-risk for Pompe disease at a median age of 9 days (range 6-13), and 18 were with a borderline risk at a median age of 13 days (9-28).

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.

In Pompe disease, deficient lysosomal acid α-glucosidase (GAA) activity causes glycogen accumulation in the muscles, which leads to weakness, cardiomyopathy, and respiratory failure. Although glycogen accumulation also occurs in the nervous system, the burden of neurological deficits in Pompe disease remains obscure. In this study, a neuron-specific gene therapy was administered to Pompe mice through intracerebroventricular injection of a viral vector carrying a neuron-specific promoter.

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population.

Background/purpose: In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan.

Methods: Between May 1, 2010 and December 31, 2011, the National Taiwan University Hospital Newborn Screening Center screened all newborns for T-cell lymphopenia by measuring the copy number of T-cell receptor excision circles (TRECs) and RNase P. Newborns with low TREC values were subjected to complete blood cell counts and flow cytometry.

Development of lysine-histidine dendron modified chitosan for improving transfection efficiency in HEK293 cells.

Chitosan has potential as a biocompatible gene carrier. However, its gene transfection efficiency is low because of its slow endosomal escape rate. Histidine has buffering capacity in the pH range of endosomes/lysosomes.

Polyamidoamine dendrimer-conjugated quantum dots for efficient labeling of primary cultured mesenchymal stem cells.

Monitoring of cells in vivo after transplantation could supply important information for determining the efficacy of stem cell therapy. The use of quantum dots (QDs) has several advantages for in vivo imaging, such as remarkable resistance to photo bleaching, high fluorescence efficiency, and size-tunable emission. After they are taken up by cells via endocytosis, QDs lose their fluorescence intensity in endosomes/lysosomes at low pH because the intensity cannot survive under acidic conditions.

Efficient gene transfection by histidine-modified chitosan through enhancement of endosomal escape.

Chitosan has the potential to be a biocompatible gene carrier. However, the transfection efficiency of chitosan is low because of the slow endosomal escape rate. The buffering capacity of histidine in the endosomal pH range would help the escape of plasmid DNA (pDNA) from endosomes.

Degradation of PCL-MPEG diblock copolymer in rat plasma.

The poly(epsilon-caprolactone)-co-poly(ethylene glycol) (PCL-MPEG) amphiphilic diblock copolymer with molar ratio of epsilon-CL to MPEG 81:1 is synthesized via a ring-opening polymerization without a catalyst. The M(w) and M(n) molecular weights and the polydispersities are 18,000, 11,000 g/mole and 1.55, respectively.