Vaporization is an increasingly prevalent means to consume cannabis, but there is little guidance for manufacturers or regulators to evaluate additive safety. This paper presents a first-tier framework for regulators and cannabis manufacturers withou...
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acut...
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and...
Background: Advances in genomic technologies combined with tandem mass newborn screening have enabled early detection and management of several common inborn errors of metabolism. Fructose-1,6-bisphosphatase deficiency, an autosomal recessive treatab...
In the Netherlands, the newborn screening (NBS) program includes screening for propionic aciduria (PA) and methylmalonic aciduria (MMA). When initial screening reveals elevated C3 concentrations or abnormal ratios (C3/C2, C3/C16), a second-tier test...
Background/Objectives: Mass spectrometry-based newborn screening for small-molecule biomarkers typically employs a rapid first-tier screen that omits chromatographic separations before mass spectrometric analysis, followed, only for a subset of sampl...
Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (I...
Housing has become pivotal in attracting and retaining talent in first-tier cities. Although numerous cities are actively promoting the provision of talent housing in China, little is known about the talent’s evaluations of talent housing polic...
Green supply chain management (GSCM) has a necessary goal of performing a firm’s social and environmental responsibilities, and SMEs employ GSCM practices with constrained resources. SMEs need to determine which areas they need to concentrate t...
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. C...
With the continuous development of big data technology, semantic-rich multi-source big data provides broader prospects for the research of urban land use function recognition. This study relied on POI data and OSM data to select the central urban are...
Parenteral nutrition (PN) is a nutrient solution administered intravenously (IV) to premature babies. PN causes elevations of some amino acids in blood samples that are also biomarkers used in newborn screening (NBS). Therefore, PN status must be ann...
Most Chinese cities have spent decades achieving urbanisation. So far, rural urbanisation has shifted to urban renewal. However, the distinction between a rapidly changing social environment and the establishment of an institution has led to the fail...
The real estate market significantly influences individual lives, corporate decisions, and national economic sustainability. Therefore, constructing a data-driven, interpretable real estate market prediction model is essential. It can clarify each fa...
The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory...
Urban renewal is essentially a process of redefining land property rights, restructuring land use functions and redistributing land value increment, which is of great significance for improving the efficiency of land resource allocation and realizing...
In recent years, the worldwide plant-based meat sector has undergone substantial and rapid expansion. The swift advancement of plant-based meat products in the Chinese market is ascribed to changes in customer dietary preferences. To accelerate the r...
Newborn screening benefits children with rare diseases by enabling early detection and intervention, which improves health outcomes. False-positive results are one harm of screening, with infants subject to further testing to resolve a positive scree...
Muscle biopsy has long been regarded as the cornerstone for diagnosing pediatric muscular disorders; however, it is invasive and may be limited by sampling error and inconclusive histopathological findings. This study aimed to evaluate whether whole-...
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the...
Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognosticati...
The Building Inspection Priority Index (BIPI) method for masonry structures is an approximate procedure for the preliminary assessment of the seismic capacity of existing load-bearing masonry buildings and for the prioritization of each building for...
The completion of the Human Genome Project in 2003 has led to significant advances in patient care in medicine, particularly in diagnosing and managing genetic diseases and cancer. In the realm of genetic diseases, approximately 15% of critically ill...
Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (GBA) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clini...
Previous research has shown that a MALDI-MS technique can be used to screen for sickle cell disease (SCD), and that a system combining automated sample preparation, MALDI-MS analysis and classification software is a relevant approach for first-line,...
19 December 2022
Early diagnosis of drug susceptibility for tuberculosis (TB) patients could guide the timely initiation of effective treatment. We evaluated a novel multiplex xMAP TIER (Tuberculosis-Isoniazid-Ethambutol-Rifampicin) assay based on the Luminex xMAP sy...
Inherited neurological disorders, such as spinocerebellar ataxia (SCA) and fragile X (FraX), are frequently caused by short tandem repeat (STR) expansions. The detection and assessment of STRs is important for diagnostics and prognosis. We tested the...
Erythrocyte glutathione transferase (e-GST) and oxidized human serum albumin (HSAox) were used as biomarkers to assess the environmental health of a foundry and a ceramics factory located in the Umbria region (Italy). While HSAox level indicates that...
Hypophosphatasia (HPP) is a rare hereditary metabolic disorder caused by nucleotide variants (NVs) in the ALPL gene, leading to a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP). HPP has a variable clinical presentation (such as impair...
With the rapid development of China’s electric vehicle industry, the influence mechanism of government policies on consumers’ purchase intentions has become a research focus. This study integrates the technology acceptance model (TAM) and...
The California Genetic Disease Screening Program (GDSP) employs a fixed immunoreactive trypsinogen (IRT) cutoff followed by molecular testing to screen newborns for cystic fibrosis (CF). The cutoffs approximate a 1.6% yearly IRT screen-positive rate;...
The rapid development of intelligent transportation systems and high-speed railways has shortened the waiting time of passengers and the demand for waiting areas. Large-scale stations not only increase the difficulty for passengers when traveling but...
In this study, we explore the evolution and formation mechanism of urban housing investment resilience from three perspectives: theoretical analysis, model construction, and empirical testing. Based on the three-element theory of investment decision...
20 December 2021
The environmental Kuznets curve (EKC) expresses the relationship between environmental quality and economic growth. Based on the defects of previous studies on EKC using only environmental pollution indicators, this study holds that environmental qua...
The impact of high-speed rail (the following text is written as HSR) on regional economy has become an important research hotspot in the world. Using the Difference in Differences (DID) method, this paper analyzes the influence of HSR opening in 223...
Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation of a molecular diagnosis i...
This study explored risk transfer among the housing markets of five major cities in China, comprising three first-tier cities (i.e., Beijing, Shanghai, and Shenzhen) and two second-tier cities (i.e., Tianjin and Chongqing). House price index data fro...
This study proposes a two-tier scenario planning model, consisting of scenario development and policy portfolio planning, to demonstrate the environmental sustainability policy planning process. Scenario development embodies future scenarios that inc...
The major issue in the evolution of housing prices is risk of housing price contagion. To model this issue, we constructed housing multilayer networks using transfer entropy, generalized variance decomposition, directed minimum spanning trees, and di...
Equitable access to healthcare services is essential for residents’ well-being and social equity, requiring the rational spatial distribution of healthcare facilities in urban planning. Compared with major studies on the spatial accessibility a...
Situational analysis and decision-making represent key elements of elite sports performances, but few studies have investigated which player’s skills related to these aspects are relevant in elite handballers. The aim of this study was to addre...
Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid sphingomyelinase deficiency patients....
Persistent scatterer interferometry (PSI) has the ability to acquire submeter-scale digital elevation model (DEM) and millimeter-scale deformation. A limitation to the application of PSI is that only single persistent scatterers (SPSs) are detected,...
In recent years, the population growth rate has been gradually declining in China. As the population problem becomes increasingly significant, the accurate prediction of population development trends has become a top priority, used to facilitate nati...
Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function. M...
Lysosomal storage disorders (LSDs) are genetically and clinically heterogeneous conditions in which delayed recognition may permit irreversible multisystem injury. Flow-injection analysis tandem mass spectrometry (FIA-MS/MS) of dried blood spots (DBS...
We screened 51,081 newborns for X-linked adrenoleukodystrophy (ALD) using a two-tiered strategy quantifying very long chain lysophosphatadylcholines (LPC). Our testing strategy used flow injection tandem mass spectrometry for the first-tier analysis...
The Pearl River Delta region suffers from congestion in the urban road network, noise, air pollution, and other “urban diseases”. Vigorously developing inland water transportation can greatly alleviate these “urban diseases”....
The aim of this study was to improve screening efficiency by establishing reasonable interpretation criteria for the use of flow injection analysis tandem mass spectrometry (FIA-MS/MS) in newborn screening (NBS) for X-linked adrenoleukodystrophy (X-A...
Due to rapid technical advancements and increasing cost-effectiveness, the potential application of next-generation sequencing (NGS) in newborn screening (NBS) has raised great interest worldwide. Genomic NBS offers the possibility to improve current...
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