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To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients. 138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020. Base on the abnormal liver laboratory tests, we divided 138 patients into three groups: acute liver failure (ALF), liver dysfunction, and non-liver dysfunction groups, then compared their clinical, biochemical and, molecular data. 96 % of 138 patients had high levels of citrulline and high ratio of threonine to serine, which is the distinctive feature of plasma amino acid profile for NICCD. A total of 18.1 % of 138 patients had evidence of ALF who presented the most severity hepatic damage, 51.5 % had liver dysfunction, and the remaining 30.4 % presented mild clinical symptoms (non-liver dysfunction). In ALF group, the levels of citrulline, tyrosine, TBIL, ALP, and γ-GT was significantly elevated, and the level of ALB and Fisher ratio was pronounced low. Homozygous mutations of 1,638_1660dup, IVS6+5G.A, or IVS16ins3kb in SLC25A13 gene were only found in ALF and liver dysfunction groups. Supportive treatment including medium-chain triglyceride supplemented diet and fresh frozen plasma could be life-saving and might reverse ALF. High level of citrulline, tyrosine, TBIL, ALP, γ-GT, and ammonia, low level of albumin, and low Fisher ratio were predictors to suggest severe liver damage in NICCD patients who may go on to develop fatal metabolic disorder. Early identification and proper therapy is particularly important for these patients. [ABSTRACT FROM AUTHOR]

Growth hormone deficiency (GHD) has become a serious healthcare burden, and presents a huge impact on the physical and mental health of patients. Here, we developed an actively separated microneedle patch (PAA/NaHCO 3 -Silk MN) based on silk protein for sustained release of recombinant human growth hormone (rhGH). Silk protein, as a friendly carrier material for proteins, could be constructed in mild full-water conditions and ensure the activity of rhGH. After manually pressing PAA/NaHCO 3 -Silk MN patch to skin for 1 min, active separation is achieved by absorbing the interstitial fluid (ISF) to trigger HCO 3 ‒ in the active backing layer to produce carbon dioxide gas (CO 2). In rats, the MN patch could maintain the sustained release of rhGH for more than 7 days, and produce similar effects as daily subcutaneous (S.C.) injections of rhGH in promoting height and weight with well tolerated. Moreover, the PAA/NaHCO 3 -Silk MN patch with the potential of painless self-administration, does not require cold chain transportation and storage possess great economic benefits. Overall, the PAA/NaHCO 3 -Silk MN patch can significantly improve patient compliance and increase the availability of drugs, meet current unmet clinical needs, improve clinical treatment effects of GHD patients. Silk-based growth hormone microneedle patch could be transported and stored at room temperature, and realize self-management without producing hazardous waste. [Display omitted] [ABSTRACT FROM AUTHOR]

Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese patients with CGL2. Three patients diagnosed with CGL2 from our center were reviewed. Data on clinical features, results of laboratory analyses, and previous treatments were retrospectively collected. This study also reviewed studies that reported patients diagnosed with CGL2 in the last 30 years. All patients presented a lack of subcutaneous fat, hypertriglyceridemia, reversed triangular faces, acanthosis nigricans, and hepatomegaly within the first six months of life. All three patients developed splenomegaly, and mental retardation in later life. Dietary control dramatically lowered triglyceride levels in all patients. One patient presented with diabetes mellitus at 1 year-old. Although combined therapy with low fat diet and metformin maintained normal levels of blood lipid and glucose, this patient developed hypertrophic cardiomyopathy at the age of three. By a literature review on all Chinese cases with CGL2, it is known that classic manifestations such as hypertriglyceridemia, hepatomegaly and diabetes mellitus can occur shortly after birth, and early diagnosis and treatment can improve quality of life. In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have different clinical phenotypes in patients with CGL2. This study not only described the clinical and genetic features of three patients with CGL2 in China, but also reviewed literature about CGL2 around the world. [ABSTRACT FROM AUTHOR]

Coastal deltas, housing 4.5% of the global population, face profound shifts due to climate change and intensified human activities. This study utilizes the Patch-generating Land Use Simulation (PLUS) for detailed land cover dynamics and the Integrated Valuation of Ecosystem Services and Trade-Offs (InVEST) models for ecosystem services assessment, focusing on 46 global coastal deltas under future scenarios (SSP126, SSP245, SSP585). Our findings reveal a 145% increase in urban areas from 1995 to 2015, with expected continuations in urban sprawl. Grassland and barren areas are projected to diminish by up to 15% and 5%, respectively, with urban areas potentially expanding by up to 39% across scenarios. Significant decreases in surface water yield under SSP245 and SSP585 could challenge water sustainability. Moreover, a universal decline in carbon storage necessitates enhanced carbon sequestration strategies. Soil retention is anticipated to decline, leading to increased erosion risks, while habitat quality varies, improving in 29 deltas under SSP126 but worsening in 33 under SSP245 and SSP585. These insights underscore the urgency of strategic, adaptive land use planning to bolster ecosystem services, directly supporting the United Nations' Decade of Ocean Science for Sustainable Development and advancing global sustainable delta management. • Assessed land cover and ecosystem services in 46 deltas using PLUS and InVEST models under future scenarios. • Urban areas grew by 145% from 1995 to 2015, with projections of continued growth, highlighting the need for stronger sustainable planning. • Projected up to 15% grassland and 5% barren land loss, risking ecosystem services like soil retention and carbon storage. • Significant surface water yield declines under SSP245 and SSP585 scenarios; habitat quality varied across deltas. • Urges strategic, adaptive land use planning for ecosystem resilience, aligning with the UN's ocean sustainability goals. [ABSTRACT FROM AUTHOR]

Midwives experience elevated levels of work-related stress. However, there is limited understanding of the patterns of this stress, its sociodemographic and work-related determinants, and its association with sub-health. This multi-center cross-sectional study, conducted in 21 hospitals in Zhuhai City, Guangdong Province, China, involved 300 midwives. Work-related stress levels in midwives were evaluated using the Chinese version of the Nursing Stress Scale, while social, physical and mental sub-health status was measured with the Sub-Health Measurement Scale. Utilizing latent profile analysis, the study aimed to categorize midwives into homogeneous profiles based on patterns of work-related stress. Among the 300 midwives examined, three distinct profiles were identified: profile 1 (n=57, 19 %), characterized by low work-related stress; profile 2 (n=149, 50 %), representing the moderate work-related stress class; and profile 3 (n=94, 31 %), indicative of high work-related stress. Midwives in the high work-related stress profile tended to be younger, with lower monthly income, lower professional titles, and a higher likelihood of night shift work (all P <0.01). Significant and noteworthy trends were observed in sociodemographic characteristics (age, monthly income, and professional title) and work-related characteristics (night shift status). After controlling for confounders, the work-related stress profile demonstrated a negative association with social, physical and mental sub-health status. This study highlights integrating stress domains and adopting a person-centered approach to examine midwives' work-related stress. Identifying predictors of profile membership and their relationship with sub-health can inform tailored interventions to reduce stress and improve midwives' well-being. [ABSTRACT FROM AUTHOR]

Technological progress, represented by artificial intelligence, has a dual impact on employment structure. In order to explore the impact of artificial intelligence development on employment skill structure, this paper, based on the panel data of 30 provinces and cities in China from 2003 to 2017, used the mediating effect regression model and the threshold regression model to conduct empirical tests. The results show that the development of artificial intelligence will significantly affect the structure of employment skills, and regional innovation has a significant mediating effect. From the threshold characteristics, there is a threshold effect of regional innovation. With the improvement of innovation environment, industrial upgrading and technological progress, the influence of artificial intelligence on middle-skill employment is gradually weakened. Under the influence of innovation environment and technological progress, the high-skilled employment shows a U-shaped change. [ABSTRACT FROM AUTHOR]

Typhoons pose threats to coastal wetlands, but the impacts on carbon stocks remain unclear. This study investigated typhoon effects on salt marsh carbon pools with different vegetation covers (harvested Spartina alterniflora , native Scirpus mariqueter , bare mudflat) in the Yangtze River estuary. During Typhoon Muifa (September 2022), significant erosion occurred in the Scirpus area while the harvested Spartina area experienced sediment deposition, indicating its stronger coastal protection capacity. Grain size analysis validated the geomorphic changes. The harvested Spartina area also captured coarser sediments from the mudflat. Wave data showed the amplified hydrodynamics during typhoons can transport more sediment into marshes. In the Scirpus area, surface sediments (0–15 cm) lost 43% organic carbon and 73% belowground biomass due to erosion. The deposited sediments after typhoons lacked the original high carbon content. In contrast, harvested Spartina areas maintained carbon levels despite intense hydrodynamics. The bare mudflat lost 43% total carbon after experiencing substantial erosion. This study demonstrates harvested Spartina areas effectively mitigated carbon loss and even facilitated carbon sequestration through enhanced sediment trapping during typhoons. With intensifying storm surges, seasonal harvesting of Spartina could balance coastal protection and ecological functions better than complete removal. The carbon sink capacity of sediments with native vegetation is vulnerable to typhoons due to limited resilience. Harnessing bio-geomorphic feedbacks is crucial for preserving blue carbon storage facing climate change. • Sediment sampling and UAV were combined to detect the impact of typhoon on morphological and carbon stock changes in salt marsh. • Harvested Spartina outperformed native Scirpus under storm surges for sedimentation and carbon preservation. • Harvested Spartina can enhance salt marsh carbon sequestration through bio-geomorphic feedbacks. • Salt marshes sensitive to erosion may exacerbate carbon loss during storm surge. • Seasonal Spartina harvesting can balance coastal protection and other ecological roles. [ABSTRACT FROM AUTHOR]

Abstract Background GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. Though improvements could be achieved by tetrahydrobiopterin and neurotransmitter precursor levodopa supplementation, residual motor and mental deficits remain in some patients. An appropriate GTPCH deficiency animal model with clinical symptoms, especially the motor impairments, is still not available for mechanism and therapy studies yet. Objectives and methods To investigate whether the heterozygous GTPCH missense mutation p.Leu117Arg identified from a patient with severe infancy-onset dopa-responsive motor impairments is causative and establish a clinical relevant GTPCH deficiency mouse model, we generated a mouse mutant mimicking this missense mutation using the CRISPR/Cas9 technology. Series of characterization experiments on the heterozygous and homozygous mutants were conducted. Results The expressions of GTPCH were not significantly changed in the mutants, but the enzyme activities were impaired in the homozygous mutants. BH4 reduction and phenylalanine accumulation were observed both in the liver and brain of the homozygous mutants. Severer metabolic disturbance occurred in the brain than in the liver. Significant reduction of neurotransmitter dopamine, norepinephrine and serotonin was observed in the brains of homozygous mutants. Live-born homozygous mutants exhibited infancy-onset motor and vocalization deficits similar to the disease symptoms observed in the patient, while no obvious symptoms were observed in the young heterozygous mutant mice. With benserazide-levodopa treatment, survival of the homozygous mutants was improved but not completely rescued. Conclusions The GTPCH p.Leu117Arg missense mutation is deleterious and could cause tetrahydrobiopterin, phenylalanine and neurotransmitter metabolic disturbances and infancy-onset motor dysfunctions recessively. This is the first GTPCH deficiency mouse model which could be live-born and exhibits significant motor impairments. The different extents of BH4 reduction and phenylalanine accumulation observed between liver and brain in response to GTPCH deficiency gives potential new insights into the vulnerability of brain to GTPCH deficiency. Highlights • The novel GCH1 missense mutation p.Leu117Arg is a deleterious recessive mutation. • Established the first GTPCH deficiency animal model with motor impairments • Severer BH4 reduction and phenylalanine accumulation in the brain than the liver [ABSTRACT FROM AUTHOR]

Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase in blood plant sterol levels. Clinical manifestations usually include xanthomas, hypercholesterolemia,premature atherosclerosis and hematological abnormalities. We report here a sitosterolemia patient who presented with multiple xanthomas and profound hypercholesterolemia since 3 years old. The girl was mistreated as familial hypercholesterolemia for 6 years until correct diagnosis was made by detecting serum plant cholesterol levels. Sequence analysis revealed compound heterozygous mutations in ABCG5 gene, including the previously reported mutation c.904+1G＞A and a novel missense mutation c.1528C＞A. Although cholestyramine therapy reduced cholesterol level in association with marked regress of the xanthomas, serum plant sterol levels still remain high. Our study suggests that patients develop severe hypercholesterolemia and xanthomas at early age should be suspected of sitosterolemia. In addition, we also describe a novel missense mutation in exon 11 of the ABCG5 gene, which enriches the genetic mutation spectrum of sitosterolemia. • Clinical, molecular characteristics, and treatments of a girl with sitosterolemia. • Describes a novel missense mutation c.1528C>A in the ABCG5 gene. • Reviews the characteristics of 26 Chinese patients with sitosterolemia. [ABSTRACT FROM AUTHOR]

Abstract Iron plaque (IP) plays an important role in the absorption of heavy metals (HMs) and nutrients in wetland plants. The present study aims to investigate the effect of IP in Spartina alterniflora on the immobilization of wastewater borne HMs and nutrients. The physiological responses and effect of IP formation on the uptake of HMs, nitrogen (N), and phosphorus (P) were studied in S. alterniflora subjected to different synthetic wastewater (SW) levels and waterlogging durations. Results showed that IP formed in roots of S. alterniflora increased significantly with increasing SW concentration but decreased under prolonged waterlogging. Increasing the waterlogging time enhanced the alcohol dehydrogenase activity and the ethylene content in the roots of S. alterniflora. HMs including Cu, Pb, and Cr, did not significantly accumulate in the IP, despite that the IP content increased with the increasing of SW levels. The SEM–EDX analysis revealed that IP formed on the surface of S. alterniflora did absorb HMs such as Cu, Zn, and Cr. At a fixed level of SW, the amount of HMs that accumulated in the DCB extract was substantially proportional to the IP concentration in the root. Increasing of the SW level enhanced the accumulation of P in the leaves and roots of S. alterniflora. In conclusion, IP formed on S. alterniflora helped immobilize SW pollutants, including HMs and P, and the formation of IP and its effect on pollutant immobilization were influenced by the waterlogging conditions. Highlights • High level synthetic wastewater increased the iron plaque (IP) formation. • Formation of root IP decreased with the extension of waterlogging time. • Alcohol dehydrogenase activity enhanced by long time of waterlogging. • The root ethylene content increased with the prolonged waterlogging time. • Heavy metals accumulated in DCB extract was proportional to IP content. [ABSTRACT FROM AUTHOR]

Abstract The accessibility of islands can be largely improved with fixed link to the mainland by the construction of sea-cross bridges and tunnels, which results in a rapid increase of tourists and economic income. Meanwhile the accelerated increase of built-up land will change the island land use deeply. As the main anthropogenic disturbance, the rapid change of land use and increase of tourists will set further pressure on the ecological vulnerability of islands. It is urgent to derive the threshold of anthropogenic influence on the island with fixed link to the mainland. Island Ecological Vulnerability Index (IEVI) is used to evaluate the ecological vulnerability of Zhujiajian Island. Land use and tourists change in the next 20 years is simulated to estimate the change of island ecological vulnerability. The main results are: 1) The ecosystem of Zhujiajian Island is in good condition now, with limited area at moderate and severe vulnerable status; 2) With the rapid increase of anthropogenic disturbance, the ecological vulnerability of the island tends to increase. During the research period 2015–2035 the area of severe vulnerability increases by 78%, and the area of mild vulnerability increases by 201 ha (33%). One third of the non-vulnerable area becomes vulnerable; 3) Based on the prediction of ecological vulnerability, the threshold of tourists in Zhujiajian Island is about 16 million per year. The upper limit of built up area is 2500 ha, which means 90% is already used. With the improvement of management effectiveness and waste treatment capacity, the island's anthropogenic disturbance threshold can be raised. The vulnerability based anthropogenic disturbance threshold analysis can provide a basis for viable island ecosystem management strategies. Highlights • The ecosystem of Zhujiajian Island is in good condition now. • The ecological vulnerability of the island tends to increase with accelerated disturbance. • The threshold of tourists in Zhujiajian Island is about 16 million per year. • The upper limit of built up area is 2500 ha, with 90% already used. • The vulnerability based threshold can provide basis for island ecosystem management strategies. [ABSTRACT FROM AUTHOR]

Tidal flat elevation in the estuarine wetland determines the tidal flooding time and flooding frequency, which will inevitably affect the formation of iron plaque and accumulations of heavy metals (HMs) in wetland plants. The present study investigated the formation of iron plaque and HM's (copper, zinc, lead, and chromium) accumulation in S. alterniflora , a typical estuarine wetland species, at different tidal flat elevations (low, middle and high) in filed and at different time (3, 6, 9, 12 h per day) of waterlogging treatment in greenhouse conditions. Results showed that the accumulation of copper, zinc, lead, and chromium in S. alterniflora was proportional to the exchangeable fraction of these metals in the sediments, which generally increased with the increase of waterlogging time, whereas the formations of iron plaque in roots decreased with the increase of waterlogging time. Under field conditions, the uptake of copper and zinc in the different parts of the plants generally increased with the tidal levels despite the decrease in the metals’ exchangeable fraction with increasing tidal levels. The formation of iron plaque was found to be highest in the middle tidal positions and significantly lower in low and high tidal positions. Longer waterlogging time increased the metals’ accumulation but decreased the formation of iron plaque in S. alterniflora . The binding of metal ions on iron plaque helped impede the uptake and accumulation of copper and chromium in S. alterniflora . [ABSTRACT FROM AUTHOR]

The frequency and duration of tidal flooding significantly influence the bioavailability of heavy metals (HMs) in sediment and hence exert toxicological effects on coastal wetland plants. In this study, the combined effects of different water inundation times (3, 6, 9, and 12 h) and HMs (Cu, Zn, Pb, and Cr) on the photosynthesis and physiology of Spartina alterniflora were investigated under greenhouse conditions. Results showed that S. alterniflora was somehow tolerant to the combined HMs treatments, and only the highest level of HM treatment decreased leaf chlorophyll content. Furthermore, the plants did not show any signs of victimization. Different times of water inundation with HMs did not exert any significant effect on the malonaldehyde (MDA) and chlorophyll contents in the leaves of S. alterniflora at day 20. Prolonged water inundation time at day 60 significantly reduced leaf chlorophyll content with the decrease in leaf photosynthetic rate, which was accompanied by a significant increase in the intercellular concentration of CO 2 . At day 60, abscisic acid dose-dependently increased along the different water inundation times, indicating that this phytohormone is involved in plant responses to flooding stress. Peroxidase (POD), superoxide dismutase (SOD), and ascorbate peroxidase (APX), showed different responses to the combined treatment of water inundation and HMs at different times. At day 20, the long duration of water inundation and HMs treatments (9 h+HMs and/or 12 h+HMs) significantly increased enzyme activity in the leaves compared with the control group (6 h). At day 60, the POD and SOD activities in the leaves of S. alterniflora decreased with prolonged water inundation time, and root APX activity significantly decreased compared with the 6 h water inundation treatment. [ABSTRACT FROM AUTHOR]

Around the world, numerous sea-cross bridges have been constructed for economic reasons. Land use of islands is often influenced deeply after the construction of bridges, especially with the increase of built-up area. Estimating the impact of sea-cross bridges on island land use becomes more and more urgent. In this study, the observed land use and the simulated land use without fixed link to mainland were compared to derive the impacts of sea-cross bridges. The main results are: 1) The land use of island is greatly affected by sea-cross bridges, with growth rate of built-up land 1.59 times higher than that before the bridge construction. Compared with the scenario of without fixed link to mainland, the centroid of built-up area moved about 500 m to the southeast, while the centroid of farmland moved nearly 300 m to the northwest; 2) After being connected with mainland, the island faced serious pressures, such as rapid land use change, explosive growth of tourists and continued stress on the ecosystem; and 3) Future construction of sea-cross bridges forming fixed link between island and mainland should take the economic development needs of the island, the carrying capacity of the island resources and the ecosystem responses into consideration, in addition to the feasibility analysis. [ABSTRACT FROM AUTHOR]

Triboelectric nanogenerators (TENGs) have ideal applications in the field of self-powered sensing thanks to their simple structure and flexible working mode. However, the weak operating properties of triboelectric materials in high humidity environments limit the wide application of TENG as sensors. To solve this problem, this work prepared hydrophilic triboelectric materials with natural cellulose as the template and used them for self-powered sensing in high humidity environments. Thanks to the interconnected network of the cellulose scaffold, the complex morphology of the material constructed in concert with Ti 3 C 2 T x during templating provides abundant adsorption sites for water molecules. Over a broad humidity range (40%−90% relative humidity (RH)), the moisture-sensitive triboelectric material can sustain outstanding performance in 150 s with high sensitivity (0.8/1%). The cellulose template-based triboelectric material transmits electrical signals to the user interface wirelessly, enabling self-powered sensing in high humidity environments. This study provides a novel strategy for the design and preparation of high-performance triboelectric materials using cellulose as a template and promotes the study of self-powered sensing in high humidity environments. [Display omitted] • Preparation of a cellulose template-based triboelectric material for high humidity. • The material has high sensitivity and high stability over a wide humidity range. • The material enables humidity sensing and respiration monitoring in high humidity. [ABSTRACT FROM AUTHOR]

Sustainable development is central to the current societal functioning, whose complexity demands consideration on a regional scale. However, there are disparate methods to express sustainable development, many of which use qualitative analysis cumbersome for policy-makers. Previous studies focused on environmental, economic, and social impacts without fully considering the regulation mechanisms of the plethora of administrative bodies. To fill this research gap, this research establishes an integrated assessment framework involving four pillars: environment and ecology, society and culture, economics, and governance and policy. Further, indicator systems and quantitative analysis give comparable and objective results. The current study applied them to one of the most economically significant and developed Chinese regions, the Yangtze River Delta. The result shows a dynamic variation in regional sustainability from 2010 to 2019, indicating an annual increase. Although economic and societal development has been increasing steadily, environmental development has stagnated in the past two years, and the influencing policy has fluctuated dramatically. Our analysis was done in Shanghai, Jiangsu, Zhejiang, and Anhui. Even though all regions showed increasing sustainability, we observed an imbalance in regional sustainable development. Achieving a regional approach and enhanced regional coordination in the Yangtze River Delta is imperative and cannot be ignored by local, regional, and national policy-makers. More importantly, this study created a model capable of predicting the impact of the COVID-19 epidemic on regional sustainable development. The model showed that, compared with predicted values, a 6.65% decrease in the integrated sustainability index ensued, attributed to the pandemic in Zhejiang province. [Display omitted] • An integrated coastal sustainability assessment framework involving four pillars. • Using indicator systems and quantitative analysis of the Yangtze Delta area. • The study showed the variation of regional sustainability during the past decade. • The study explored the impact of the COVID-19 epidemic on regional sustainability. • The pandemic reduced the regional observed sustainability index by 6.65%. [ABSTRACT FROM AUTHOR]

Background: Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China. Method: From January 2009 to March 2012, 16,075 urine samples were collected from patients who were highly suspected of having IEM in Guangzhou Women and Children's Medical Center. The specimens were evaluated using GC-MS. Results: We diagnosed 303 cases of IEM by urine GC-MS analysis, including 197 cases with amino acid disorders, 86 cases with organic acidurias (OAs), 10 cases with fatty acid oxidative (FAO) disorders, and 10 cases with peroxisomal disorders. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was the most common (153 cases), followed by methylmalonic aciduria (48 cases), urea cycle disorders (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), X-linked adrenoleukodystrophy (10 cases), multiple carboxylase deficiency (8 cases), glutaric aciduria type I (7 cases), isovaleric aciduria (6 cases), glutaric aciduria type II (4 cases), short-chain acyl-CoA dehydrogenase deficiency (4 cases), 3-hydroxy-3-methylglutaric aciduria (3 cases), maple syrup urine disease (2 cases), very long-chain acyl-CoA dehydrogenase deficiency (1 case), malonic aciduria (1 case), mevalonic aciduria (1 case), Canavan disease (1 case), lysine protein intolerance (1 case), and medium-chain acyl-CoA dehydrogenase deficiency (1 case). The clinical and laboratory features of IEM are neurologic signs, jaundice, metabolic acidosis, ketotic hypoglycemia, and hyperammonemia. Conclusion: In our study, GC-MS provided a diagnostic clue to OAs, amino acid disorders, FAO, and peroxisomal disorders. Urease pretreatment is useful for the diagnosis of NICCD. In southern China, the majority of IEM were amino acid disorders and organic acid disorders. FAO disorders were relatively rare, which we need to investigate further. [ABSTRACT FROM AUTHOR]

Seedlings of Avicennia marina were exposed to single and combined metal treatments of cadmium (Cd) and copper (Cu) in a factorial design, and the combined toxicity of Cu and Cd was tested. The effects of the exogenous jasmonic acid (JA) on chlorophyll concentration, lipid peroxidation, Cd and Cu uptake, antioxidative capacity, endogenous JA concentration, and type-2 metallothionein gene ( AmMT2 ) expression in seedlings of A. marina exposed to combined metal treatments were also investigated. A binary mixture of low-dose Cd (9 µmol L −1 ) and high-dose Cu (900 µmol L −1) showed toxicity to the seedlings, indicated by the significant augmentation in leaf malondialdehyde (MDA) and reduction in leaf chlorophylls. The toxicity of the combined metals was significantly alleviated by the addition of exogenous JA at 1 µmol L −1, and the chlorophyll and MDA contents were found to be restored to levels comparable to those of the control. Compare to treatment with Cd and Cu only, 1 and 10 µmol L −1 JA significantly enhanced the ascorbate peroxidase activity, and 10 µmol L −1 JA significantly decreased the uptake of Cd in A. marina leaves. The relative expression of leaf AmMT2 gene was also significantly enhanced by 1 and 10 µmol L −1 JA , which helped reduce Cd toxicity in A. marina seedlings. [ABSTRACT FROM AUTHOR]