Environmental profiles, hazard identification, and toxicological hallmarks of emerging tire rubber-related contaminants 6PPD and 6PPD-quinone.

N-(1,3-dimethylbutyl)-N'-phenyl-p-phenylenediamine (6PPD) is commonly used in rubber compounds as antioxidants to protect against degradation from heat, oxygen, and ozone exposure. This practice extends the lifespan of rubber products, including tires, by preventing cracking, aging, and deterioration. However, the environmental consequences of waste generated during rubber product use, particularly the formation of 6PPD-quinone (6PPD-Q) through the reaction of 6PPD with ozone, have raised significant concerns due to their detrimental effects on ecosystems. Extensive research has revealed the widespread occurrence of 6PPD and its derivate 6PPD-Q in various environmental compartments, including air, water, and soil. The emerging substance of 6PPD-Q has been shown to pose acute mortality and long-term hazards to aquatic and terrestrial organisms at concentrations below environmentally relevant levels. Studies have demonstrated toxic effects of 6PPD-Q on a range of organisms, including zebrafish, nematodes, and mammals. These effects include neurobehavioral changes, reproductive dysfunction, and digestive damage through various exposure pathways. Mechanistic insights suggest that mitochondrial stress, DNA adduct formation, and disruption of lipid metabolism contribute to the toxicity induced by 6PPD-Q. Recent findings of 6PPD-Q in human samples, such as blood, urine, and cerebrospinal fluid, underscore the importance of further research on the public health and toxicological implications of these compounds. The distribution, fate, biological effects, and underlying mechanisms of 6PPD-Q in the environment highlight the urgent need for additional research to understand and address the environmental and health impacts of these compounds.

Disentangled Dynamic Deviation Transformer Networks for Multivariate Time Series Anomaly Detection.

Graph neural networks have been widely used by multivariate time series-based anomaly detection algorithms to model the dependencies of system sensors. Previous studies have focused on learning the fixed dependency patterns between sensors. However, they ignore that the inter-sensor and temporal dependencies of time series are highly nonlinear and dynamic, leading to inevitable false alarms. In this paper, we propose a novel disentangled dynamic deviation transformer network (D3TN) for anomaly detection of multivariate time series, which jointly exploits multiscale dynamic inter-sensor dependencies and long-term temporal dependencies to improve the accuracy of multivariate time series prediction. Specifically, to disentangle the multiscale graph convolution, we design a novel disentangled multiscale aggregation scheme to better represent the hidden dependencies between sensors to learn fixed inter-sensor dependencies based on static topology. To capture dynamic inter-sensor dependencies determined by real-time monitoring situations and unexpected anomalies, we introduce a self-attention mechanism to model dynamic directed interactions in various potential subspaces influenced by various factors. In addition, complex temporal correlations across multiple time steps are simulated by processing the time series in parallel. Experiments on three real datasets show that the proposed D3TN significantly outperforms the state-of-the-art methods.

Comparative Analysis of the Pre- and Post-Medication Effects of Antipsychotic Agents on the Blood-Based Oxidative Stress Biomarkers in Patients with Schizophrenia: A Meta-Analysis.

OBJECTIVE: Studies have shown that oxidative stress (OS) is related to the pathophysiology of schizophrenia (SCZ), but whether antipsychotics can induce OS has not been investigated well. Moreover, antipsychotics have differential effects on the OS level modulation, i.e., different types of antipsychotics have different effects on the cellular antioxidants or pro-oxidants. METHODS: We followed the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines and investigated the OS indicators including both enzymatic and nonenzymatic markers, such as superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), malondialdehyde (MDA), glutathione (GSH), vitamin C, etc., of SCZ patients at baseline and follow-up of mono-medication. RESULTS: Twenty studies met the inclusion criteria, with a total of 1162 patients enrolled at baseline, and 1105 patients completed the follow-up. OS markers were changed after a period of antipsychotic treatment in SCZ patients. The GPx activity and MDA level decreased in the whole blood (P<0.05), also the serum MDA level decreased (P<0.05). For the first-episode SCZ patients, the activity of GPx and the level of MDA decreased, while the level of vitamin C increased (all P<0.05). The levels of MDA in patients receiving atypical antipsychotics decreased (P<0.05), while the level of GSH in patients with typical antipsychotics decreased (P=0.05). CONCLUSION: Antipsychotic medication may cause changes in the levels of OS markers in different blood samples of SCZ patients. However, the available studies might not be sufficient to reveal the underlying facts accurately due to the poor quality of experimental designs in the published literature.

Prevalence and clinical characteristics of COVID-19 in inpatients with schizophrenia in Wuhan, China.

BACKGROUND: In contrast to many Western countries, China has maintained its large psychiatric hospitals. The prevalence and clinical characteristics of coronavirus disease 2019 (COVID-19) in inpatients with schizophrenia (SCZ) are unclear. AIM: To assess the prevalence of COVID-19 among inpatients with SCZ and compare the infected to uninfected SCZ patients in a Wuhan psychiatric hospital. METHODS: We retrospectively collected demographic characteristics and clinical profiles of all SCZ patients with COVID-19 at Wuhan's Youfu Hospital. RESULTS: Among the 504 SCZ patients, 84 had COVID-19, and we randomly sampled 174 who were uninfected as a comparison group. The overall prevalence of COVID-19 in SCZ patients was 16.7%. Among the 84 SCZ patients with confirmed COVID-19, the median age was 54 years and 76.2% were male. The most common symptom was fever (82%), and less common symptoms were cough (31%), poor appetite (20%), and fatigue (16%). Compared with SCZ patients without COVID-19, those with COVID-19 were older (P = 0.006) and significantly lighter (P = 0.002), and had more comorbid physical diseases (P = 0.001). Surprisingly, those infected were less likely to be smokers (< 0.001) or to be treated with clozapine (P = 0.03). Further logistic regression showed that smoking [odds ratio (OR) = 5.61], clozapine treated (OR = 2.95), and male (OR = 3.48) patients with relatively fewer comorbid physical diseases (OR = 0.098) were at a lower risk for COVID-19. SCZ patients with COVID-19 presented primarily with fever, but only one-third had a cough, which might otherwise be the most common mode of transmission between individuals. CONCLUSION: Two unexpected protective factors for COVID-19 among SCZ inpatients are smoking and clozapine treatment.

An integrated remote sensing and model approach for assessing forest carbon fluxes in China.

Forest plays an important role in reducing pressure on the natural environment, weaking the influence of greenhouse effects, and sequestrating atmospheric carbon dioxide. So far, due to the lack of complete understanding of forest ecosystem processes and the limitations on the scope of application of evaluation methods, there are still great uncertainties in the researches on carbon fluxes of forest ecosystems in China at the national level. In this study, an individual tree species FORCCHN model, which could flexibly use the inventory data as the initial field (more accurately) or use the remote sensing information to inverse initial field was applied. The dynamics of key carbon cycle fluxes (net primary productivity (NPP) and net ecosystem productivity (NEP)) and carbon sequestration of forest ecosystems in China from 1982 to 2019 were simulated based on remote sensing data and FORCCHN model. The results showed that forest ecosystems in China had great carbon sequestration potential over the past 39 years. From 1982 to 2019, the NPP of Chinese forests presented a fluctuated increase. Total NPP from 2011 to 2019 ranged from 0.91 PgC·a-1 to 1.14 PgC·a-1. Annual average NEP of forest ecosystems in China from 2011 to 2019 was 0.199 PgC·a-1 (1Pg = 1015 g). Influenced by climate, soil and vegetation, carbon sequestration potential in Chinese forest ecosystems presented obvious regional differences in space. The spatial distribution of NEP gradually increased from Northwest to Southeast China. From 2011 to 2019, forests in Yunnan Province had the strongest carbon storage capacity (72.79 TgC·a-1, 1Tg = 1012 g), followed by forests in Guangxi (18.49 TgC·a-1) and forests in Guangdong (10.01 TgC·a-1). Our results not only address concerns about carbon sequestration but also reflect the importance of Chinese forest resources in the development of the national economy and society.

Influencing Factors of Hospital-Acquired Pneumonia Infection in the Middle-Aged and Elderly Patients With Schizophrenia.

Introduction: Pneumonia is an important cause of death in patients with schizophrenia. It is critical to understand the risk factors of hospital-acquired pneumonia (HAP) and determine prevention strategies to reduce HAP. The aim of this study is to elucidate the risk factors for HAP in the middle-aged and elderly hospitalized patients with schizophrenia. Methods: We retrospectively reviewed the medical records of 2,617 the middle-aged and elderly patients (age ≥ 50) with schizophrenia who were admitted for the first time to a large-scale psychiatric hospital between 2016 and 2020. The factors related to the incidence of HAP in patients were analyzed, including personal characteristics, antipsychotics, and non-antipsychotics. Results: The HAP infection rate of hospitalized the middle-aged and elderly patients with schizophrenia was 7.8%. Chi-square analyses showed that older age, male, and ≥60 days of hospitalization were risk factors for HAP infection (χ2 = 94.272, p < 0.001; χ2 = 22.110, p < 0.001; χ2 = 8.402, p = 0.004). Multivariate logistic regression showed that quetiapine, clozapine, and olanzapine significantly increased the incidence of HAP (OR = 1.56, 95% CI = 1.05-2.32, p = 0.029; OR = 1.81, 95% CI = 1.26-2.60, p = 0.001; OR = 1.68, 95% CI = 1.16-2.42, p = 0.006). Antipsychotic drugs combined with aceglutamide had an effect on HAP (OR = 2.19, 95% CI = 1.38-3.47, p = 0.001). Conclusion: The high HAP infection rate in hospitalized the middle-aged and elderly patients with schizophrenia may be related to the increase of age and the use of antipsychotic drugs. The types and dosages of antipsychotic drugs should be minimized while paying attention to the mental symptoms of patients.

Metabarcoding Analysis of Harmful Algal Bloom Species in the Western Pacific Seamount Regions.

The Western Pacific is the most oligotrophic sea on Earth, with numerous seamounts. However, the plankton diversity and biogeography of the Western Pacific in general and the seamount regions in particular remains largely unexplored. In this project, we quantitatively analyzed the composition and distribution patterns of plankton species in the Western Pacific seamount regions by applying metabarcoding analysis. We identified 4601 amplicon sequence variants (ASVs) representing 34 classes in seven protist phyla/divisions in the Western Pacific seamount regions, among which Dinoflagellata was by far the most dominant division. Among the 336 annotated phytoplankton species (including species in Dinoflagellata), we identified 36 harmful algal bloom (HAB) species, many of which displayed unique spatial distribution patterns in the Western Pacific seamount regions. This study was the first attempt in applying ASV-based metabarcoding analysis in studying phytoplankton and HAB species in the Western Pacific seamount regions, which may facilitate further research on the potential correlation between HABs in the Western Pacific seamount regions and coastal regions.

Fine particulate matter exposure exacerbated nasal mucosal damage in allergic rhinitis mice via NLRP3 mediated pyroptosis.

BACKGROUND: The incidence of nasal allergy/allergic rhinitis (AR) is rising worldwide, which has become a serious public health problem. Epidemiological studies point that exposure to environmental PM2.5 is closely linked to AR aggravation, however, the exactly mechanism is not clear. This study was performed to reveal molecular mechanisms of PM2.5 -induced AR deterioration. METHODS: Morphology and element analysis of PM2.5 was examined by scanning electron microscopy (SEM) and Energy Dispersive Spectrometer (EDS). A total of 24 female C57BL/6 mice were divided into three groups (control group, AR group, and PM2.5 + AR group, each group contains 8 mice). Mice from AR group and PM2.5 + AR group were intraperitoneally injected with OVA suspension (0.004% OVA+3% aluminum hydroxide) on days 1, 7, and 14. 0.2 mL /kg B.W. for sensitization; then the same mice were intranasal instilled with 5% OVA solution daily for 7 days to established AR mice model (each nostril for 10 µl, day 15-21). The mice were intranasal instilled PBS (control group and AR group, each nostril for 10 µl) or PM2.5 (AR + PM2.5 group, 4.0 mg/kg b.w., each nostril for 10 µl) at the same way from day 23-29. The nasal symptoms were evaluated after the last instillation of PM2.5. Pathological changes and ultrastructure of nasal mucosa were observed by HE staining and SEM. Goblet cells hyperplasia was performed by Periodic acid-Schiff (PAS) staining. NLRP3, Caspase-1, GSDMD and IL-1ß protein expression were assessed by immunohistochemical (IHC) staining. RESULTS: Exposure to PM2.5 aggravated rhinitis symptom, promoted the secretion of serum IgE level and destroyed ultrastructural of nasal mucosa. Interestingly, NLRP3, Caspase-1 GSDMD and IL-1ß protein expression were obviously elevated. NLRP3 /Capase-1/ GSDMD meditated cell pyroptosis participated in the process of AR exacerbation. However, macrophage is not the main effector cell. CONCLUSION: PM2.5 exposure induces aggravation of allergic rhinitis, which is related to NLRP3 inflammasome meditated caspase-1 activation and cell pyroptosis in nasal mucosal.

Single-Atom Ru Implanted on Co3 O4 Nanosheets as Efficient Dual-Catalyst for Li-CO2 Batteries.

Li-CO2 battery has attracted extensive attention and research due to its super high theoretical energy density and its ability to fix greenhouse gas CO2 . However, the slow reaction kinetics during discharge/charge seriously limits its development. Hence, a simple cation exchange strategy is developed to introduce Ru atoms onto a Co3 O4 nanosheet array grown on carbon cloth (SA Ru-Co3 O4 /CC) to prepare a single atom site catalyst (SASC) and successfully used in Li-CO2 battery. Li-CO2 batteries based on SA Ru-Co3 O4 /CC cathode exhibit enhanced electrochemical performances including low overpotential, ultra high capacity, and long cycle life. Density functional theory calculations reveal that single atom Ru as the driving force center can significantly enhance the intrinsic affinity for key intermediates, thus enhancing the reaction kinetics of CO2 reduction reaction in Li-CO2 batteries, and ultimately optimizing the growth pathway of discharge products. In addition, the Bader charge analysis indicates that Ru atoms as electron-deficient centers can enhance the catalytic activity of SA Ru-Co3 O4 /CC cathode for the CO2 evolution reaction. It is believed that this work has important implications for the development of new SASCs and the design of efficient catalyst for Li-CO2 batteries.

Fine particulate matter-induced lung inflammation is mediated by pyroptosis in mice.

BACKGROUND: Exposure to ambient air-borne fine particulate matter (PM2.5) increases respiratory morbidity and mortality. The mechanisms underlying PM2.5-induced adverse effects remain unclear. This study aimed to uncover the molecular mechanisms of PM2.5-induced lung toxicity using a mouse model. METHODS: Scanning electron microscopy and inductively coupled plasma mass spectrometry were used to examine and analyze PM2.5 morphology and element compositions, respectively. Twenty four male mice were randomly divided into three groups: control (PBS), PM2.5 (4.0 mg/kg b.w.), and PM2.5 + Z-YVAD-FMK. In the latter group, the pan-caspase inhibitor (Z-YVAD-FMK) was intraperitoneally injected into mice at a dose of 12.5 mg/kg body weight prior to intratracheal instillation of PM2.5 (4.0 mg/kg b.w.) every other day for a total of 3 times (n = 8 in each group). Bronchoalveolar lavage fluids (BALFs) were collected 24 h after the last instillation of PM2.5. Levels of total proteins (TP), lactate dehydrogenase (LDH), IL-1ß and IL-18 were analyzed for biomarkers of cell injury and inflammation. Additionally, histological alterations of lung tissues were assessed by hematoxylin-eosin staining. mRNA and protein expression of Caspase1, NLRP3 and GSDMD were examined by real-time fluorescent quantitative PCR and immunohistochemical staining. RESULTS: Exposure to PM2.5 increased levels of TP, LDH, IL-1ß, IL-18 and inflammatory cell counts in lung. The mRNA and protein expression of Caspase1, NLRP3 and GSDMD were increased. Inhibition of the NALRP3/Caspase-1 signaling pathway ameliorated PM2.5-induced lung injury and inflammation, partially through suppressing pyroptosis in lung. CONCLUSION: PM2.5 exposure induces lung injury and inflammation, which is mediated by the NALRP3/Caspase-1 signaling pathway.

New Authentication Scheme for Wireless Body Area Networks Using the Bilinear Pairing.

Due to the development of information technologies and network technologies, healthcare systems have been employed in many countries. As an important part of healthcare systems, the wireless body area network (WBAN) could bring convenience to both patients and physicians because it could help physicians to monitor patients' physiological values remotely. It is essential to ensure secure communication in WBANs because patients' physiological values are very sensitive. Recently, Liu et al. proposed an efficient authentication scheme for WBANs. Unfortunately, Zhao pointed out that their scheme suffered from the stolen verifier-table attack. To improve security and efficiency, Zhao proposed an anonymous authentication scheme for WBANs. However, Zhao's scheme cannot provide real anonymity because the users' pseudo identities are constant value and the attack could tract the users. In this paper, we propose a new anonymous authentication scheme for WBANs. Security analysis shows that the proposed scheme could overcome weaknesses in previous scheme. We also use the BAN logic to demonstrate the security of the proposed scheme.

[Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].

OBJECTIVE: To analyze the clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency (OTCD) and explore the molecular pathogenesis of OTCD in order to provide a solution for molecular diagnostics and genetic counseling. METHODS: Clinical data of 3 neonates were analyzed. The amino acids level in blood was analyzed with mass spectrum technology. PCR was used to amplify all the 10 exons of OTC gene. The PCR products were directly sequenced to detect the mutations. RESULTS: All of the 3 cases had neonatal onset and showed poor reaction, feeding difficulty, convulsion and neonatal infection. Citrulline levels were significantly decreased. Case 1 had a missense mutation of Y183C. Case 2 showed a missense mutation of V339G in exon 10. And a missense mutations of W332S in exon 9 was detected in case 3. CONCLUSION: Analysis of OTC gene sequences can be used for the diagnosis of OTCD and screening of asymptomatic carriers. Mutation analysis is important for prenatal diagnosis of individuals with a positive family history and genetic counseling. The V339G and W332S mutations have been discovered for the first time. Patients with such mutations may have onset of the disease during neonatal period.

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.

Duchenne/Becker muscular dystrophies are the most frequent inherited neuromuscular diseases caused by mutations of the dystrophin gene. However, approximately 30% of patients with the disease do not receive a molecular diagnosis because of the complex mutational spectrum and the large size of the gene. The introduction and use of next-generation sequencing have advanced clinical genetic research and might be a suitable method for the detection of various types of mutations in the dystrophin gene. To identify the mutational spectrum using a single platform, whole dystrophin gene sequencing was performed using next-generation sequencing. The entire dystrophin gene, including all exons, introns and promoter regions, was target enriched using a DMD whole gene enrichment kit. The enrichment libraries were sequenced on an Illumina HiSeq 2000 sequencer using paired read 100 bp sequencing. We studied 26 patients: 21 had known large deletion/duplications and 5 did not have detectable large deletion/duplications by multiplex ligation-dependent probe amplification technology (MLPA). We applied whole dystrophin gene analysis by next-generation sequencing to the five patients who did not have detectable large deletion/duplications and to five randomly chosen patients from the 21 who did have large deletion/duplications. The sequencing data covered almost 100% of the exonic region of the dystrophin gene by ≥10 reads with a mean read depth of 147. Five small mutations were identified in the first five patients, of which four variants were unreported in the dmd.nl database. The deleted or duplicated exons and the breakpoints in the five large deletion/duplication patients were precisely identified. Whole dystrophin gene sequencing by next-generation sequencing may be a useful tool for the genetic diagnosis of Duchenne and Becker muscular dystrophies.

The SEPS1 G-105A polymorphism is associated with risk of spontaneous preterm birth in a Chinese population.

Inflammation plays an important role in the etiology and pathophysiology of spontaneous preterm birth (SPTB), and selenoprotein S (SEPS1) is involved in regulating the inflammatory response. Recently the G-105A promoter polymorphism in SEPS1 was shown to increase pro-inflammatory cytokine expression. We examined whether this functional polymorphism was related to the risk of SPTB in a Chinese population. We also examined the impact of premature rupture of membranes (PROM) on susceptibility to SPTB. The SEPS1 G-105A polymorphism was genotyped in 569 preterm singleton neonates and 673 term neonates by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. χ (2) tests and logistic regression analyses were used to calculate the odds ratios (ORs) and 95% confidence intervals (95% CIs). We observed that, compared with the GG genotype, -105A positive genotypes (GA + AA genotypes) were associated with significantly increased susceptibility to SPTB (adjusted OR, 1.87; 95% CI, 1.36-2.57; P<0.001). The -105A positive genotypes were also significantly associated with increased susceptibility to SPTB, both in the patients with PROM (adjusted OR, 2.65; 95% CI, 1.73-4.03; P<0.001) and in those without PROM (adjusted OR, 1.56; 95% CI, 1.09-2.24; P = 0.015). The -105A positive genotypes were also significantly associated with increased susceptibility to SPTB between extremely preterm neonates and controls (adjusted OR, 4.46; 95% CI, 1.86-10.73; P = 0.002) and between moderately preterm neonates and controls (adjusted OR, 1.76; 95% CI, 1.25-2.47; P = 0.001). Our findings suggest that the SEPS1 G-105A polymorphism contributes to the risk of developing SPTB in a Chinese population.

Phosphorus-modified poly(styrene-co-divinylbenzene)-PAMAM chelating resin for the adsorption of uranium(VI) in aqueous.

Polyamidoamine (PAMAM) modified poly(styrene-co-divinylbenzene) absorbents carrying phosphorus functional groups (PS-PAMAM-PPA) were prepared and used as adsorbents for the adsorption of uranium(VI) from aqueous solution. Different generations of PAMAM were used for obtaining different chelating resins, PS-PPA, PS-1.0G PAMAM-PPA, PS-2.0G PAMAM-PPA, PS-3.0G PAMAM-PPA and PS-4.0G PAMAM-PPA. The synthesized resins were characterized by FTIR and XPS. The effects of many physio-chemical properties on metal ion adsorption to adsorbent phase, such as solution pH, kinetic studies, initial uranium concentration, temperature, were investigated using batch method. The results showed that the maximum adsorption capacity (99.89 mg/g) was observed at the pH 5.0 and 25°C with initial U(VI) concentration 100mg/L and adsorbent dose 1g/L. PS-1.0G PAMAM-PPA had the largest adsorption capacity for U(VI) compared with other prepared adsorbents. The adsorption kinetics of U(VI) onto PS-1.0G PAMAM-PPA followed the mechanism of the pseudo-second-order equation, indicating that the chemical adsorption was a rate-limiting step. The calculated thermodynamic parameters (ΔG, ΔH, ΔS) stated that the adsorption of U(VI) onto PS-1.0G PAMAM-PPA were spontaneous, endothermic and feasible. The adsorption isotherms obeyed the Langmuir isotherm models. The desorption studies showed that PS-1.0G PAMAM-PPA could be used repeatedly and adsorption and desorption percentage did not have any noticeable loss after 27 cycles in a fixed bed.

Four novel GALC gene mutations in two Chinese patients with Krabbe disease.

Krabbe disease (OMIM #245200) is a rare autosomal recessive leukodystrophy caused by deficiency of galactocerebrosidase (GALC) activity. We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient. This is the first identification of GALC mutations in the Chinese population.

Reference intervals for serum thyroid hormones in preterm hospitalized infants.

OBJECTIVE: In our study, the reference intervals of serum thyroid hormones were established in 247 hospitalized preterm infants from 28 to 36 weeks of gestation at 8-15 postnatal days. The thyroid hormones were serum triiodothyronine (T3), free triiodothyronine (FT3), thyroxine (T4), free thyroxine (FT4), and thyrotropin (TSH). METHODS: Electrochemiluminescence immunoassay was used to examine the thyroid hormone levels of serum samples from 247 preterm infants, who were grouped on sampling by gestational age. SPSS 16.0 was used to calculate the population-based reference intervals, in comparison to the manufacturer's suggested reference intervals. RESULTS: Kruskal-Wallis H tests could not determine the difference in TSH levels among groups, which allowed us to develop a single interval for the study population. ANOVA determined the differences in T3, FT3, T4, and FT4 levels among groups, which allowed us to define reference intervals for preterm infants according to their gestational age. CONCLUSION: Developed reference intervals are useful for clinical diagnosis; however, there is a lack of consensus. These values could be used to assess the thyroid status of preterm infants and provide a foundation for clinical therapy. The results emphasized the importance of establishing gestational age-based reference intervals for the clinical laboratory.

[Clinical and molecular genetic analysis for a patient with glycogen storage disease â a].

OBJECTIVE: To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa. METHODS: PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations. RESULTS: A heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister. CONCLUSIONS: G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.