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1.
J Viral Hepat ; 31(7): 391-403, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38654623

ABSTRACT

In Vietnam and the Philippines, viral hepatitis is the leading cause of cirrhosis and liver cancer. This study aims to understand the barriers and enablers of people receiving care for hepatitis B and C to support both countries' efforts to eliminate viral hepatitis as a public health threat by 2030. Retrospective, semi-structured interviews were conducted with a purposive, quota-based sample of 63 people living with hepatitis B or C in one province of Vietnam and one region of the Philippines. A rapid deductive approach to thematic analysis produced key findings among the three phases of care: (1) pre-awareness and testing, (2) linkage and treatment initiation and (3) ongoing treatment and recovery. The research found that participants followed five typical journeys, from a variety of entry points. Barriers during the pre-awareness and testing phase included limited awareness about hepatitis and its management, stigma and psychological impacts. Enablers included being familiar with the health system and/or patients benefiting from social connections within the health systems. During the linkage and treatment initiation phase, barriers included difficult physical access, complex navigation and inadequate counselling. In this phase, family support emerged as a critical enabler. During the ongoing treatment and recovery phase, the cost of care and socially and culturally informed perceptions of the disease and medication use were both barriers and enablers. Exploring peoples' journeys with hepatitis B and C in Vietnam and the Philippines revealed many similarities despite the different cultural and health system contexts. Insights from this study may help generate a contextualized, people-centred evidence base to inform the design and improvement of primary care services for hepatitis in both research sites.


Subject(s)
Health Services Accessibility , Humans , Vietnam/epidemiology , Philippines/epidemiology , Male , Female , Middle Aged , Adult , Retrospective Studies , Aged , Hepatitis B , Interviews as Topic , Young Adult , Hepatitis C/epidemiology , Hepatitis C/drug therapy
2.
Adv Mater ; : e2311644, 2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38684220

ABSTRACT

Topological insulators and semimetals have been shown to possess intriguing thermoelectric properties promising for energy harvesting and cooling applications. However, thermoelectric transport associated with the Fermi arc topological surface states on topological Dirac semimetals remains less explored. This work systematically examines thermoelectric transport in a series of topological Dirac semimetal Cd3As2 thin films grown by molecular beam epitaxy. Surprisingly, significantly enhanced Seebeck effect and anomalous Nernst effect are found at cryogenic temperatures when the Cd3As2 layer is thin. In particular, a peak Seebeck coefficient of nearly 500 µV K-1 and a corresponding thermoelectric power factor over 30 mW K-2 m-1 are observed at 5 K in a 25-nm-thick sample. Combining angle-dependent quantum oscillation analysis, magnetothermoelectric measurement, transport modeling, and first-principles simulation, the contributions from bulk and surface conducting channels are isolated and the unusual thermoelectric properties are attributed to the topological surface states. The analysis showcases the rich thermoelectric transport physics in quantum-confined topological Dirac semimetal thin films and suggests new routes to achieving high thermoelectric performance at cryogenic temperatures.

3.
J Oral Biol Craniofac Res ; 14(2): 112-115, 2024.
Article in English | MEDLINE | ID: mdl-38313577

ABSTRACT

Background: This study aimed to measure the prevalence of malocclusion and identify associated factors among elementary school students in Vietnam. Method: A cross-sectional study was conducted from March to December 2022 at six primary schools located in the province of Thai Binh, Vietnam. A total of 873 students were recruited for research purposes. Students were classified into normal, malocclusion classes I, II and III. Bad habits were examined. Multivariate logistic regression was used to detect associations. Results: The prevalence of malocclusion was 60.7 %; 19.0 % had Class I, 31.0 % had Class II and 10.7 % had Class III. Having finger sucking habit was associated with Class I malocclusion (OR: 3.28), and Class II malocclusion (OR: 3.22). Having lip biting habit was related to a higher odds of having Class II malocclusion (OR = 4.37) Class III malocclusion (OR = 6.83). Having tongue thrusting habit was associated with higher odds of having Class I (OR: 5.25), and Class II malocclusion (OR: 6.42). Mouth breathing was related to a higher likelihood of having Class II malocclusion (OR = 2.71). Having early loss of deciduous teeth was associated with a higher odds of having Class III malocclusion (OR = 3.83). Conclusion: Findings showed high prevalence of malocclusion, mostly class II, in elementary students in Vietnam. Bad habits such as finger sucking, biting the lower lip, tongue thrusting, mouth breathing, and early loss of deciduous teeth play important roles in developing malocclusion, which should be considered in the development of interventions.

4.
Front Pediatr ; 12: 1165492, 2024.
Article in English | MEDLINE | ID: mdl-38415210

ABSTRACT

Background: Pathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot-Marie-Tooth type 2S (CMT2S; OMIM #616155). SMARD1 is a severe and fatal condition characterized by infantile-onset respiratory distress, diaphragmatic palsy, and distal muscular weakness, while CMT2S follows a milder clinical course, with slowly progressive distal muscle weakness and sensory loss, without manifestations of respiratory disorder. Methods: Whole-exome sequencing of the IGHMBP2 gene was performed for eight Vietnamese patients with IGHMBP2-related neuromuscular disorders including five patients with SMARD1 and the others with CMT2S. Results: We identified one novel IGHMBP2 variant c.1574T > C (p.Leu525Pro) in a SMARD1 patient. Besides that, two patients shared the same pathogenic variants (c.1235 + 3A > G/c.1334A > C) but presented completely different clinical courses: one with SMARD1 who deceased at 8 months of age, the other with CMT2S was alive at 3 years old without any respiratory distress. Conclusion: This study is the first to report IGHMBP-2-related neuromuscular disorders in Vietnam. A novel IGHMBP2 variant c.1574T > C (p.Leu525Pro) expressing SMARD1 phenotype was detected. The presence of three patients with the same genotype but distinct clinical outcomes suggested the interaction of variants and other factors including relating modified genes in the mechanism of various phenotypes.

5.
J Infect Dis ; 2024 Jan 03.
Article in English | MEDLINE | ID: mdl-38169323

ABSTRACT

BACKGROUND: Tuberculous meningitis (TBM) is difficult to diagnose. We investigated whether a 3-gene host response signature in blood can distinguish TBM from other brain infections. METHODS: The expression of 3 genes (Dual specificity phosphatase 3- DUSP3, Guanylate-binding protein- GBP5, Krupple-like factor 2- KLF2) was analysed by RNA sequencing of archived whole blood from four cohorts of Vietnamese adults: 281 with TBM; 279 with pulmonary tuberculosis; 50 with other brain infections; and 30 healthy controls. 'TB scores' (combined 3-gene expression) were calculated following published methodology and discriminatory performance compared using area under a receiver operator characteristic curve (AUC). RESULTS: GBP5 was upregulated in TBM compared to other brain infections (p < 0.001), with no difference in DUSP3 and KLF2 expression. The diagnostic performance of GBP5 alone (AUC 0.74 (95% CI 0.67-0.81)) was slightly better than the 3-gene TB score (AUC 0.66, 95% CI 0.58-0.73) in TBM. Both GBP5 expression and TB score were higher in HIV-positive participants (P < 0.001), with good diagnostic performance of GBP5 alone (AUC 0.86, 95% CI 0.80-0.93). CONCLUSION: The 3-gene host signature in whole blood has the ability to discriminate TBM from other brain infections, including in HIV-positive individuals. Validation in large prospective diagnostic study is now required.

6.
ADMET DMPK ; 11(4): 551-560, 2023.
Article in English | MEDLINE | ID: mdl-37937241

ABSTRACT

Background and Purpose: The utilization of doxorubicin (DOX) in clinal trials is also challenging owing to its adverse effects, including low oral bioavailability, generation of reactive oxygen species (ROS), cardiotoxicity, and epithelial barrier damage. Recently, scavenging of ROS reduced the cytotoxicity of DOX, suggesting a new approach for using DOX as an anticancer treatment. Thus, in this study, non-silica and silica redox nanoparticles (denoted as RNPN and siRNP, respectively) with ROS scavenging features have been designed to encapsulate DOX and reduce its cytotoxicity. Experimental Approach: DOX-loaded RNPN (DOX@RNPN) and DOX-loaded siRNP (DOX@siRNP) were prepared by co-dissolving DOX with RNPN and siRNP, respectively. The size and stability of nanoparticles were characterized by the dynamic light scattering system. Additionally, encapsulation efficiency, loading capacity, and release profile of DOX@RNPN and DOX@siRNP were identified by measuring the absorbance of DOX. Finally, the cytotoxicity of DOX@RNPN and DOX@siRNP against normal murine fibroblast cells (L929), human hepatocellular carcinoma cells (HepG2), and human breast cancer cells (MCF-7) were also investigated. Key results: The obtained result showed that RNPN exhibited a pH-sensitive character while silanol moieties improved the stability of siRNP in physiological conditions. DOX@RNPN and DOX@siRNP were formed at several tens of nanometers in diameter with narrow distribution. Moreover, DOX@siRNP stabilized under different pH buffers, especially gastric pH, and improved encapsulation of DOX owing to the addition of silanol groups. DOX@RNPN and DOX@siRNP maintained anticancer activity of DOX against HepG2, and MCF-7 cells, while their cytotoxicity on L929 cells was significantly reduced compared to free DOX treatment. Conclusion: DOX@RNPN and DOX@siRNP could effectively suppress the adverse effect of DOX, suggesting the potential to become promising nanomedicines for cancer treatments.

7.
Front Public Health ; 11: 1254479, 2023.
Article in English | MEDLINE | ID: mdl-37886050

ABSTRACT

This study was conducted to describe the knowledge and practices on dental caries prevention among parents of preschool children in Vietnam and identify associated factors. A cross-sectional study was conducted in three preschools in Northern Vietnam in 2020. A total of 316 parents of preschool children were randomly recruited. Knowledge and practices regarding early dental caries prevention were asked by using a structured questionnaire. Multivariate Tobit regression was used to examine factors associated with knowledge and practice scores. Results showed four aspects of knowledge that had the lowest proportion of parents having correct responses included timing of complete primary tooth replacement (12.3%), benefits of undergoing regular dental examination (31.7%), technique for brushing a child's teeth (33.9%), and duration for brushing (36.7%). The knowledge of parents was moderately low at 6.3/12 (SD = 2.3). The practices of parents were moderately good with the mean practice score at 6.1/9 (SD = 2.0). The proportion of parents taking children for regular checkups (56.2%) and replacing toothbrush every 3 months (53.7%) were the lowest. Information source, occupation, education and perceived necessity of oral care were found to be associated with parents' knowledge and practices. To conclude, parents had moderate levels of knowledge and practices regarding early dental caries prevention in preschool children. Further studies and interventions should be performed to improve parental knowledge and practices that could enhance the oral health of children.


Subject(s)
Dental Caries , Oral Hygiene , Child, Preschool , Humans , Cross-Sectional Studies , Dental Caries/prevention & control , Dental Caries Susceptibility , Health Knowledge, Attitudes, Practice , Oral Hygiene/education , Parents , Vietnam
8.
Sci Adv ; 9(27): eadh3327, 2023 Jul 07.
Article in English | MEDLINE | ID: mdl-37406111

ABSTRACT

We report on superconductivity in Nd1-xEuxNiO2 using Eu as a 4f dopant of the parent NdNiO2 infinite-layer compound. We use an all-in situ molecular beam epitaxy reduction process to achieve the superconducting phase, providing an alternate method to the ex situ CaH2 reduction process to induce superconductivity in the infinite-layer nickelates. The Nd1-xEuxNiO2 samples exhibit a step-terrace structure on their surfaces, have a Tc onset of 21 K at x = 0.25, and have a large upper critical field that may be related to Eu 4f doping.

9.
Lancet Reg Health West Pac ; 30: 100611, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36419738

ABSTRACT

Background: This study aims to investigate patterns of antibiotic prescribing and to determine patient-specific factors associated with the choice of antibiotics by the World Health Organization's Access-Watch-Reserve (WHO AWaRe) class for acute respiratory infections (ARIs) in rural primary care settings in northern Vietnam. Methods: We retrospectively reviewed health records for outpatients who were registered with the Vietnamese Health Insurance Scheme, visited one of 112 commune health centres in 6 rural districts of Nam Dinh province, Vietnam during 2019, and were diagnosed with ARIs. Patient-level prescription data were collected from the electronic patient databases. We used descriptive statistics to investigate patterns of antibiotic prescribing, with the primary outcomes including total antibiotic prescriptions and prescriptions by WHO AWaRe group. We identified patient-specific factors associated with watch-group antibiotic prescribing through multivariable logistic regression analysis. Findings: Among 193,010 outpatient visits for ARIs observed in this study, 187,144 (97.0%) resulted in an antibiotic prescription, of which 172,976 (92.5%) were access-antibiotics, 10,765 (5.6%) were watch-antibiotics, 3366 (1.8%) were not-recommended antibiotics. No patients were treated with reserve-antibiotics. The proportion of watch-antibiotic prescription was highest amongst children under 5-years old (18.1%, compared to 9.5% for 5-17-years, 4.9% for 18-49-years, 4.3% for 50-64-years, and 3.7% for 65-and-above-years). In multivariable logistic regression, children, district, ARI-type, comobid chronic respiratory illness, and follow-up visit were associated with higher likelihood of prescribing watch-group antibiotics. Interpretation: The alarmingly high proportion of antibiotic prescriptions for ARIs in primary care, and the frequent use of watch-antibiotics for children, heighten concerns around antibiotic overuse at the community level. Antimicrobial stewardship interventions and policy attention are needed in primary care settings to tackle the growing threat of antibiotic resistance. Funding: This work was supported through Australian government and UK aid from the UK government funding to FIND (Foundation for Innovative New Diagnostics) grant number FO17-0015, in addition to a Wellcome Trust grant (213920/Z/18/Z), and an Oxford University Clinical Research Unit internal grant from the Wellcome Trust Africa Asia Programme core grant in Vietnam (106680/Z/14/Z).

10.
Taiwan J Obstet Gynecol ; 61(6): 1009-1014, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36427965

ABSTRACT

OBJECTIVE: Hemophilia A (HA) is an X-linked recessive bleeding disease caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII). Available treatment to replenish the missing factor may not reach a good outcome for all patients because of potential complications that include the development of inhibitor antibodies directed against factor VIII. Therefore, the prevention of transmitting pathogenic mutations to the next generation is the best solution for this disease. Preimplantation genetic testing for a monogenic disorder (PGT-M) has become a standard method to prevent the transmission of monogenic heritable disease. The gold standard of the molecular technique used for PGT-M nowadays is the co-amplification of the polymorphic microsatellite linkage markers that use microsatellite DNA technique that overcomes the limitation of other methods. The important issue of this technique is the definition of markers that are specific for each allele on different loci. Each gene locus needs a characteristic design to allow accurate diagnosis that can be applied on PGT-M due to the limited quantity of DNA available. Here we present our study of four specific self-designed linked polymorphic markers applied on screening the embryos before implantation for hemophilia A families in Vietnam. MATERIAL AND METHODS: In this study, we investigated the feasibility of application and diagnostic value of 4 STR loci (FXS1108, DXS9897, F8int22, DXS9901) in the intragenic or neighbouring regions of the F8 gene. 35 hemophilia A families were recruited for STR analysis to define at least two characteristic heterologous markers for each family and 12 cases of pre-implantation genetic testing (PGT-M) for carrier mothers were performed. RESULT: All 4 of these loci (FXS1108, DXS9897, F8int22, DXS9901) were found practical and useful for preimplantation genetic testing (PGT-M). All 12 cases of PGT-M using the method had informative STR results and correct diagnosis was achieved. 9 out of the 12 mothers (75%) were implanted with 1-2 thawed embryos after the biopsy resulting in the birth of 5 healthy babies (55%). CONCLUSION: We conclude that specific 4 STR markers for rapid pre-implantation genetic testing of hemophilia A can be successfully applied with high confidence and accuracy in clinical settings. The results of the study provide solid evidence confirming that the microsatellite DNA technique is a highly reliable method, suitable for hemophilia A families wishing to determine carrier status or having healthy babies.


Subject(s)
Hemophilia A , Preimplantation Diagnosis , Pregnancy , Female , Humans , Hemophilia A/diagnosis , Hemophilia A/genetics , Preimplantation Diagnosis/methods , Genetic Testing/methods , Microsatellite Repeats/genetics , Alleles
11.
Sci Rep ; 12(1): 13339, 2022 08 03.
Article in English | MEDLINE | ID: mdl-35922450

ABSTRACT

Discovery of reliable signatures for the empirical diagnosis of neurological diseases-both infectious and non-infectious-remains unrealized. One of the primary challenges encountered in such studies is the lack of a comprehensive database representative of a signature background that exists in healthy individuals, and against which an aberrant event can be assessed. For neurological insults and injuries, it is important to understand the normal profile in the neuronal (cerebrospinal fluid) and systemic fluids (e.g., blood). Here, we present the first comparative multi-omic human database of signatures derived from a population of 30 individuals (15 males, 15 females, 23-74 years) of serum and cerebrospinal fluid. In addition to empirical signatures, we also assigned common pathways between serum and CSF. Together, our findings provide a cohort against which aberrant signature profiles in individuals with neurological injuries/disease can be assessed-providing a pathway for comprehensive diagnostics and therapeutics discovery.


Subject(s)
Nervous System Diseases , Proteomics , Cerebrospinal Fluid , Cohort Studies , Female , Humans , Male , Metabolomics , Neurons
12.
Case Rep Neurol ; 14(2): 237-244, 2022.
Article in English | MEDLINE | ID: mdl-35815107

ABSTRACT

Stiff Person Syndrome (SPS) is an extremely rare neurological condition characterized by muscle stiffness and painful muscle spasms. The symptoms often progress slowly and can cause disability. Antibodies to glutamic acid decarboxylase (anti-GAD) have been reported in up to 80% of the classic type of SPS. Paraneoplastic syndrome comprises 5% of SPS cases. These patients present with different malignancies including lung, thymus, breast, colon, and lymph nodes. In this paper, we report a case of a 25-year-old Vietnamese female patient with SPS presenting with unusual clinical manifestations of sudden onset, rapidly progressive spinal, abdominal, and lower limb rigidity accompanied by painful spasms, autonomic disorders, and severe, multiple bone fractures. Serologic tests detected high-titer anti-GAD, combined with anti-SOX1 antibodies, suggesting paraneoplastic SPS. Intravenous immunoglobulin has been employed as the main treatment therapy, and the patient has had a complete remission.

13.
Toxics ; 10(6)2022 Jun 10.
Article in English | MEDLINE | ID: mdl-35736923

ABSTRACT

We investigated changes in some laboratory indices and the liver histology of chronic hepatitis patients who were exposed to dioxin. In 2014, we collected liver biopsy samples for histopathological examination from 33 chronic hepatitis patients living around the Da Nang Airbase, which is a dioxin-contaminated area due to the herbicide spraying in Vietnam. Dioxin exposure was measured by its levels in the blood. METAVIR classification was used to clarify the liver fibrosis stage. Laboratory tests included ten biochemical and six hematological indices that were measured in the blood. A regression linear model and binary logistic regression were used for data analysis. The observed alterations in the liver at the histological level mainly comprised hydropic degenerative hepatocytes, lymphocytes and polynuclear leukocytes surrounding the liver cells and granular and lipoic degeneration. In addition, increased TCDD levels were associated with increasing aminotransferase (AST), alanine aminotransferase, protein and total bilirubin levels and liver fibrosis stage. Similarly, increased TEQ-PCDD/Fs levels were associated with higher levels of AST and protein and liver fibrosis stage. In conclusion, dioxin exposure altered the liver histology and increased some biochemical marker indices and the liver fibrosis stage of chronic hepatitis patients living in dioxin-contaminated areas in Da Nang, Vietnam.

14.
J Clin Lab Anal ; 36(5): e24355, 2022 May.
Article in English | MEDLINE | ID: mdl-35312118

ABSTRACT

BACKGROUND: The COVID-19 pandemic caused by SARS-CoV-2 remains public health burdens and many unresolved issues worldwide. Molecular assays based on real-time RT-PCR are critical for the detection of SARS-CoV-2 in clinical specimens from patients suspected of COVID-19. OBJECTIVE: We aimed to establish and validate an in-house real-time RT-PCR for the detection of SARS-CoV-2. METHODOLOGY: Primers and probes sets in our in-house real-time RT-PCR assay were designed in conserved regions of the N and E target genes. Optimized multiplex real-time RT-PCR assay was validated using the first WHO International Standard (NIBSC code: 20/146) and evaluated clinical performance. RESULTS: The limit of detection validated using the first WHO International Standard was 159 IU/ml for both E and N target genes. The evaluation of clinical performance on 170 clinical samples showed a positive percent agreement of 100% and the negative percent agreement of 99.08% for both target genes. The Kappa value of 0.99 was an excellent agreement, the strong correlation of Ct values observed between two tests with r2  = 0.84 for the E gene and 0.87 for the N gene. Notably, we assessed on 60 paired saliva and nasopharyngeal samples. The overall agreement was 91.66%, and Kappa value of 0.74 showed a high agreement between two types of samples. When using nasopharyngeal swabs as the reference standard, positive percent agreement, and negative percent agreement were 91.83% and 90.90%, respectively. CONCLUSION: In the present study, we established and validated an in-house real-time RT-PCR for molecular detection of SARS-CoV-2 in a resource-limited country.


Subject(s)
COVID-19 , SARS-CoV-2 , COVID-19/diagnosis , Humans , Nasopharynx , Pandemics , Reverse Transcriptase Polymerase Chain Reaction , SARS-CoV-2/genetics , Sensitivity and Specificity , World Health Organization
15.
Life (Basel) ; 11(11)2021 Oct 30.
Article in English | MEDLINE | ID: mdl-34833038

ABSTRACT

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (IDUA) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina technology confirming pathogenic variants in the IDUA gene. Clinical characteristics, additional laboratory results, and family history were collected. All patients have presented with the classical characteristic of MPS I, and α-L-iduronidase activity was low with the accumulation of glycosaminoglycans. Three variants in the IDUA gene (c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), c.1862G>C (p.Arg621Pro) were identified. The c.1190-10C>A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.

16.
Materials (Basel) ; 14(21)2021 Oct 29.
Article in English | MEDLINE | ID: mdl-34772040

ABSTRACT

The California Bearing Ratio (CBR) is an important index for evaluating the bearing capacity of pavement subgrade materials. In this research, random subspace optimization-based hybrid computing models were trained and developed for the prediction of the CBR of soil. Three models were developed, namely reduced error pruning trees (REPTs), random subsurface-based REPT (RSS-REPT), and RSS-based extra tree (RSS-ET). An experimental database was compiled from a total of 214 soil samples, which were classified according to AASHTO M 145, and included 26 samples of A-2-6 (clayey gravel and sand soil), 3 samples of A-4 (silty soil), 89 samples of A-6 (clayey soil), and 96 samples of A-7-6 (clayey soil). All CBR tests were performed in soaked conditions. The input parameters of the models included the particle size distribution, gravel content (G), coarse sand content (CS), fine sand content (FS), silt clay content (SC), organic content (O), liquid limit (LL), plastic limit (PL), plasticity index (PI), optimum moisture content (OMC), and maximum dry density (MDD). The accuracy of the developed models was assessed using numerous performance indexes, such as the coefficient of determination, relative error, MAE, and RMSE. The results show that the highest prediction accuracy was obtained using the RSS-based extra tree optimization technique.

17.
Diagnostics (Basel) ; 11(8)2021 Jul 27.
Article in English | MEDLINE | ID: mdl-34441282

ABSTRACT

Mucopolysaccharidoses (MPS) and mucolipidosis (ML II/III) are a group of lysosomal storage disorders (LSDs) that occur due to a dysfunction of the lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs). However, ML is caused by a deficiency of the enzyme uridine-diphosphate N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC2.7.8.17), which tags lysosomal enzymes with a mannose 6-phosphate (M6P) marker for transport to the lysosome. A timely diagnosis of MPS and ML can lead to appropriate therapeutic options for patients. To improve the accuracy of diagnosis for MPS and ML in a high-risk population, we propose a combination method based on known biomarkers, enzyme activities, and specific GAGs. We measured five lysosomal enzymes (α-L-iduronidase (MPS I), iduronate-2-sulfatase (MPS II), α-N-acetylglucosaminidase (MPS IIIB), N-acetylglucosamine-6-sulfatase (MPS IVA), and N-acetylglucosamine-4-sulfatase (MPS VI)) and five GAGs (two kinds of heparan sulfate (HS), dermatan sulfate (DS), and two kinds of keratan sulfate (KS)) in dried blood samples (DBS) to diagnose suspected MPS patients by five-plex enzyme and simultaneous five GAGs assays. We used liquid chromatography-tandem mass spectrometry (LC-MS/MS) for both assays. These combined assays were tested for 43 patients with suspected MPS and 103 normal control subjects. We diagnosed two MPS I, thirteen MPS II, one MPS IIIB, three MPS IVA, two MPS VI, and six ML patients with this combined method, where enzymes, GAGs, and clinical manifestations were compatible. The remaining 16 patients were not diagnosed with MPS or ML. The five-plex enzyme assay successfully identified MPS patients from controls. Patients with MPS I, MPS II, and MPS IIIB had significantly elevated HS and DS levels in DBS. Compared to age-matched controls, patients with ML and MPS had significantly elevated mono-sulfated KS and di-sulfated KS levels. The results indicated that the combination method could distinguish these affected patients with MPS or ML from healthy controls. Overall, this study has shown that this combined method is effective and can be implemented in larger populations, including newborn screening.

18.
Anal Methods ; 13(30): 3368-3378, 2021 08 14.
Article in English | MEDLINE | ID: mdl-34250989

ABSTRACT

We present the first reported quantification of trace elements in plutonium via a portable laser-induced breakdown spectroscopy (LIBS) device and demonstrate the use of chemometric analysis to enhance the handheld device's sensitivity and precision. Quantification of trace elements such as iron and nickel in plutonium metal via LIBS is a challenging problem due to the complex nature of the plutonium optical emission spectra. While rapid analysis of plutonium alloys has been demonstrated using portable LIBS devices, such as the SciAps Z300, their detection limits for trace elements are severely constrained by their achievable pulse power and length, light collection optics, and detectors. In this paper, analytical methods are evaluated as a means to circumvent the detection constraints. Three chemometric methods often used in analytical spectroscopy are evaluated; principal component regression, partial least-squares regression, and artificial neural networks. These models are evaluated based on goodness-of-fit metrics, root mean-squared error, and their achievable limits of detection (LoDs). Partial least squares proved superior for determining content of iron and nickel in plutonium metal, yielding LoDs of 15 and 20 ppm, respectively. These results of identifying the undesirable trace elements in plutonium components are critical for applications such as fabricating radioisotope thermoelectric generators or nuclear fuel.


Subject(s)
Plutonium , Trace Elements , Alloys , Lasers , Machine Learning , Spectrum Analysis , Trace Elements/analysis
19.
Nat Mater ; 20(11): 1525-1531, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34099904

ABSTRACT

The chiral anomaly is the predicted breakdown of chiral symmetry in a Weyl semimetal with monopoles of opposite chirality when an electric field is applied parallel to a magnetic field. It occurs because of charge pumping between monopoles of opposite chirality. Experimental observation of this fundamental effect is plagued by concerns about the current pathways. Here we demonstrate the thermal chiral anomaly, energy pumping between monopoles, in topological insulator bismuth-antimony alloys driven into an ideal Weyl semimetal state by a Zeeman field, with the chemical potential pinned at the Weyl points and in the absence of any trivial Fermi surface pockets. The experimental signature is a large enhancement of the thermal conductivity in an applied magnetic field parallel to the thermal gradient. This work demonstrates both pumping of energy and charge between the two Weyl points of opposite chirality and that they are related by the Wiedemann-Franz law.

20.
Dent J (Basel) ; 9(5)2021 Apr 27.
Article in English | MEDLINE | ID: mdl-33925433

ABSTRACT

Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility and low bone mass, caused mainly by mutations in collagen type I encoding genes. The current study aimed to evaluate dentinogenesis imperfecta (DI), oral manifestations and caries status of OI children. Sixty-eight children (41 males, 27 females) aged from 3 to 17 years old (mean 9 ± 4.13) participated in the study. Participants were classified into three OI type groups (I-2 cases, III-31 cases and IV-35 cases). Clinical examination and an orthopantomogram were used to obtain prevalences and associations of DI, caries status, malocclusion, crossbite, open bite, eruption, impaction and missing teeth with OI. The prevalence of DI among OI patients was 47.1%, more common in OI type III than type IV. The yellow-brown discoloration type was more vulnerable to attrition than the opalescent-grey one in the primary dentition. OI seemed not to have a high risk of caries; the prevalence of caries was 69.1%. A high incidence of malocclusion, crossbite and open bite was observed. In-depth oral information would provide valuable data for better dental management in OI patients. Parents and general doctors should pay more attention to dental care to prevent caries and premature tooth loss.

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