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Purpose Coal mining activities result in large-scale soil degradation and ecosystem imbalances in many countries. Fertilization is an effective way to improve soil fertility and microbial activity. However, the effect of different fertilizers and remediation time on the subsided soil is not clear. The aim of this study is to explore the effects on soil fertility and the bacterial community. Methods In this study, we compared three fertilization regimes (inorganic, organic, and combined) applied over a 5-year period for the purpose of rehabilitating subsoil through measurement of soil’s chemical properties and microbial biomass. Bacterial diversity was evaluated in different reclaimed soils via high-throughput 16S rDNA sequencing; 1,938,561 total sequences were obtained. Results The results showed that fertilization improved various soil properties, including the concentrations of available phosphorus, available potassium, and alkali-hydrolysable nitrogen, therefore, increasing microbial biomass. A significant increase in soil microbial diversity was observed in fertilized soils compared to the initial conditions. A positive correlation between microbial diversity and soil properties was observed. Regarding an improvement in soil properties and crop yields, the organic fertilizer demonstrated significantly more effectiveness compared to the inorganic fertilizer. Meanwhile, the relative abundance of Proteobacteria, Bacteroidetes, and Verrucomicrobia increased, but the relative abundance of Chloroflexi and Nitrospirae decreased. More specifically, we found that several Proteobacteria subgroups, such as Rhizobiales, Myxococcales, Sphingomonadales, Rhodospirillales, Xanthomonadales, and Burkholderiales, increased after the restoration. Additionally, the composition of the bacterial community in the 5-year groups (M5, O5, and MO5) was similar to the composition of the FS group, and the yield of the maize test crop following the 5-year restoration period was close to the average in China. Conclusion This result indicates that soil reclamation via fertilization can contribute to soil recovery over time. Therefore, we concluded that fertilization is an effective strategy for the restoration of soil properties and bacterial communities in mining soil.

SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3)-caused autism spectrum disorder (ASD) may present a unique opportunity to clarify the heterogeneous neuropathological mechanisms of ASD. However, the specificity and commonality of disrupted large-scale brain organization in SHANK3-deficient children remain largely unknown. The present study combined genetic tests, neurobehavioral evaluations, and magnetic resonance imaging, aiming to explore the disruptions of both local and networked cortical structural organization in ASD children with and without SHANK3 deficiency. Multiple surface morphological parameters such as cortical thickness (CT) and sulcus depth were estimated, and the graph theory was adopted to characterize the topological properties of structural covariance networks (SCNs). Finally, a correlation analysis between the alterations in brain morphological features and the neurobehavioral evaluations was performed. Compared with typically developed children, increased CT and reduced nodal degree were found in both ASD children with and without SHANK3 defects mainly in the lateral temporal cortex, prefrontal cortex (PFC), temporo-parietal junction (TPJ), superior temporal gyrus (STG), and limbic/paralimbic regions. Besides commonality, our findings showed some distinct abnormalities in ASD children with SHANK3 defects compared to those without. Locally, more changes in the STG and orbitofrontal cortex were exhibited in ASD children with SHANK3 defects, while more changes in the TPJ and inferior parietal lobe (IPL) in those without SHANK3 defects were observed. For the SCNs, a trend toward regular network topology was observed in ASD children with SHANK3 defects, but not in those without. In addition, ASD children with SHANK3 defects showed more alterations of nodal degrees in the anterior and posterior cingulate cortices and right insular, while there were more disruptions in the sensorimotor areas and the left insular and dorsomedial PFC in ASD without SHANK3 defects. Our findings indicate dissociable disruptions of local and networked brain morphological features in ASD children with and without SHANK3 deficiency. Moreover, this monogenic study may provide a valuable path for parsing the heterogeneity of brain disturbances in ASD.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD, including de novo mutations, inherited variants, copy number variants (CNVs) and genomic structural variants. A higher mutation rate (Poisson test, P

Most children with autism spectrum disorder (ASD) are not diagnosed until the age of 4, thus missing the opportunity for early intervention. The objective of this study was to investigate the feasibility of an early screening program for ASD applied during well-child visits in a community-based sample. The study lasted for 4 years and was divided into two stages. Stage I involved the implementation of the basic screening model in 2014. Toddlers received level 1 screening via section A of the Chinese-validated version of the Checklist for Autism in Toddlers (CHAT-23) during 18- and 24-month well-child visits in Xuhui District, Shanghai, China. Screen-positive children were referred to receive section B of the CHAT-23 for level 2 screening, and those still screen-positive were referred to undergo diagnosis and evaluation. Stage II involved the implementation of the improved screening model from 2015 to 2017 with the following modifications: (a) an added observational component in level 1 screening; (b) telephone follow-ups with the screen-positive families; and (c) dissemination of information on ASD to families. The results showed that 42 of 22,247 screened children were diagnosed with ASD. The ASD diagnosis rates were 0.1% in Stage I and 0.21% in Stage II. The screen-positive rate and the show rate of referral for level 1 screening increased by 76.92% and 58.43%, respectively, in Stage II compared to Stage I. Our results suggest that with appropriate logistic support, this two-level screening model is feasible and effective for the early screening of ASD during well-child visits. Autism Res 2018, 11: 1206-1217. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Difficulty in the timely identification of autism spectrum disorder (ASD) results in missed opportunities for many ASD children to receive early intervention. In this study, we established an early screening model for ASD among children aged 18-24 months in the community by relying on the three-level child healthcare system in China. The results showed that this model can effectively identify and diagnose ASD in children at an early age and thus enable early intervention.

Genetic alterations, together with environmental risk factors during infancy and childhood, contribute significantly to the etiology of autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition characterized by impairments in social interaction and restricted, repetitive behaviors. Mounting evidence points to a critical contribution of immunological risk factors to the development of ASD. By affecting multiple neurodevelopmental processes, immune system dysfunction could act as a point of convergence between genetics and environmental factors in ASD. Previous studies have shown altered cytokine levels in individuals with ASD, but research in Asian populations are limited. Here, we measured the plasma levels of 11 candidate cytokines in ASD and typically developing (TD) children. The cohort included 41 TD children and 87 children with ASD, aged 1-6 years. We found that as compared to the TD group, children with ASD had higher plasma levels of Eotaxin, TGF-β1 and TNF-α. The increase in TGF-β1 level was most significant in males, while the increase in Eotaxin was most significant in females. Eotaxin level negatively correlated with the social affect score (SA) in ADOS, while TNF-α level positively correlated with total development quotient (DQ), measured using GMDS. These pilot findings suggest potentially important roles of Eotaxin, TGF-β1 and TNF-α in ASD in the Chinese population. Autism Res 2018, 11: 989-999. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay summary Alteration of immune system function is an important risk factor for autism spectrum disorder (ASD). Here we found that the levels of cytokines, including Eotaxin, TGF-β1 and TNF-α, are elevated in Chinese children with ASD, as compared to typically developing children. The change in TGF-β1 level was most prominent in boys, while that of Eotaxin was more significant in girls. These results provide evidence for changes in cytokine profile in Chinese children with ASD.

Author(s): Zhou, Bingrui; Xu, Qiong; Li, Huiping; Zhang, Ying; Wang, Yi; Rogers, Sally J; Xu, Xiu | Abstract: To evaluate the effects of a 26-week, high-intensity, parent-implemented Early Start Denver Model (P-ESDM) intervention on developmental outcomes, severity of autism spectrum disorder (ASD), and parental stress of ASD toddlers in China. Subjects in P-ESDM group (n = 23) were recruited from 1.5- to 2.5-year-old toddlers who were screened positive in Xuhui and Minhang Districts and were diagnosed with ASD. A community (comparison) group of age-matched toddlers with ASD (n = 20) was recruited from other areas. Subjects of the P-ESDM group attended 1.5-hr parent coaching per week for 26 weeks, and those in the community group received interventions available from communities. Assessments were conducted at baseline (T1) and 26 weeks later (T2). After adjusting for baseline differences between the two groups, P-ESDM group demonstrated greater improvement than the community group in general development, especially in Language domain. Neither group demonstrated significant change in ASD severity, but the P-ESDM group showed greater improvement in social affect, parent-reported social communication and symbolic play than community group did. Finally, parents in P-ESDM group experienced decreased parenting stress while those in community group showed an opposite trend, though the differences did not reach significant association with the P-ESDM intervention. Chinese toddlers with ASD receiving 26 weeks of P-ESDM via regular coaching sessions showed significant greater improvement than those receiving community interventions in multiple aspects of development including social communications. These findings add support to the importance of providing early screening, diagnosis, and immediate referral for evidence-based interventions to improve outcome of young children with ASD. Autism Res 2018, 11: 654-666. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.Lay summaryThe development of early screening and diagnosis of autism spectrum disorder (ASD) in China has highlighted the importance of early intervention for young children with ASD. Our current study demonstrated that parent-implemented Early Start Denver Model (P-ESDM) via coaching from professionals improved developmental outcomes, especially in the language domain, and social communicational behaviors of Chinese toddlers with ASD. P-ESDM may help parents in China provide effective early intervention to their children with ASD via improving their skills when they are still at a waiting list for services or lack access to intervention, and has the potential to alleviate their parenting stress.

The reported prevalence of autism spectrum disorder (ASD) has been increasing rapidly in many parts of the world. However, data on its prevalence in China are largely missing. Here, we assessed the suitability of the modified Chinese version of a newly-developed ASD screening tool, the Modified Chinese Autism Spectrum Rating Scales (MC-ASRS) in screening for ASD in Chinese children aged 6–12 years, through comparison with the Social Responsiveness Scale (SRS) that has been widely used for ASD screening. We recruited the parents/caregivers of 1588 typically-developing children and 190 children with ASD aged 6–12 years to complete the MC-ASRS and SRS, and evaluated the validity of both scales in discriminating children with ASD from those developing typically. The results showed that MC-ASRS performed as well as SRS in sensitivity, specificity, and area-under-the-curve (both >0.95) in receiver operating characteristic analysis, with a fair false-negative rate. These results suggest that MC-ASRS is a promising tool for screening for children with ASD in the general Chinese population.

This study aims to explore prevalence and dissemination of antibiotic resistance genes (ARGs) in dairy farms. A variety of ARGs conferring resistance to most classes of antibiotics were detected in feces and soil samples obtained from dairy farms, using a high-throughput metagenomic sequencing approach. The ARGs observed in the feces and the soil samples were significantly correlated (p

Summary Human pluripotent stem cell-derived kidney organoids recapitulate developmental processes and tissue architecture, but intrinsic limitations, such as lack of vasculature and functionality, have greatly hampered their application. Here we establish a versatile protocol for generating vascularized three-dimensional (3D) kidney organoids. We employ dynamic modulation of WNT signaling to control the relative proportion of proximal versus distal nephron segments, producing a correlative level of vascular endothelial growth factor A (VEGFA) to define a resident vascular network. Single-cell RNA sequencing identifies a subset of nephron progenitor cells as a potential source of renal vasculature. These kidney organoids undergo further structural and functional maturation upon implantation. Using this kidney organoid platform, we establish an in vitro model of autosomal recessive polycystic kidney disease (ARPKD), the cystic phenotype of which can be effectively prevented by gene correction or drug treatment. Our studies provide new avenues for studying human kidney development, modeling disease pathogenesis, and performing patient-specific drug validation.

SHANK3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (ASD) and SHANK3 caused ASD presents a unique opportunity to understand the underlying neuropathological mechanisms of ASD. In this study, genetic tests, comprehensive clinical and neurobehavioral evaluations, as well as multimodal structural MRI using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) were conducted in SHANK3 group (N = 14 with SHANK3 defects), ASD controls (N = 26 with idiopathic ASD without SHANK3 defects) and typically developing (TD) controls (N = 32). Phenotypically, we reported several new features in Chinese SHANK3 deficient children including anteverted nares, sensory stimulation seeking, dental abnormalities and hematological problems. In SHANK3 group, VBM revealed decreased grey matter volumes mainly in dorsal striatum, amygdala, hippocampus and parahippocampal gyrus; TBSS demonstrated decreased fractional anisotropy in multiple tracts involving projection, association and commissural fibers, including middle cerebral peduncle, corpus callosum, superior longitudinal fasciculus, corona radiata, external and internal capsule, and posterior thalamic radiation, etc. We report that the disrupted striatum centered brain structures are associated with SHANK3 deficient children. Study of subjects with monogenic cause offer specific insights into the neuroimaging studies of ASD. The discovery may support a path for future functional connectivity studies to allow for more in-depth understandings of the abnormal neural circuits and the underlying neuropathological mechanisms for ASD.

Bisphenol A (BPA) is a commonly used endocrine-disrupting chemical used as a component of polycarbonates plastics that has potential adverse effects on human health. Exposure to BPA during development has been implicated in memory deficits, but the mechanism of action underlying the effect is not fully understood. In this study, we investigated the effect of maternal exposure to BPA on object recognition memory and the expressions of proteins important for memory, especially focusing on the ERK/CREB/BDNF pathway. Pregnant Sprague-Dawley female rats were orally treated with either vehicle or BPA (0.05, 0.5, 5 or 50 mg/kg BW/day) during days 9-20 of gestation. Male offspring were tested on postnatal day 21 with the object recognition task. Recognition memory was assessed using the object recognition index (index=the time spent exploring the novel object/(the time spent exploring the novel object+the time spent exploring the familiar object)). In the test session performed 90 min after the training session, BPA-exposed male offspring not only spent more time in exploring the familiar object at the highest dose than the control, but also displayed a significantly decreased the object recognition index at the doses of 0.5, 5 and 50 mg/kg BW/day. During the test session performed 24h after the training session, BPA-treated males did not change the time spent exploring the familiar object, but had a decreased object recognition index at 5 and 50 mg/kg BW/day, when compared to control group. These findings indicate that object recognition memory was susceptible to maternal BPA exposure. Western blot analysis of hippocampi from BPA-treated male offspring revealed a decrease in Akt, phospho-Akt, p44/42 MAPK and phospho-p44/42 MAPK protein levels, compared to controls. In addition, BPA significantly inhibited the levels of phosphorylation of CREB and BDNF in the hippocampus. Our results show that maternal BPA exposure may full impair object recognition memory, and that impairment may be related to a decrease in Akt activation and an inhibition of the ERK/CREB/BDNF pathway in the hippocampus. This study also adds new evidence that suggests BPA has an antagonistic effect on the action of estrogen in the brain.

Excessive fluoride in natural water ecosystem has been demonstrated to have adverse effects on reproductive system in humans and mammals, while the most vulnerable aquatic organisms were ignored. In this study, the effects of waterborne fluoride on growth performance, sex steroid hormone, histological structure, and the transcriptional profiles of sex steroid related genes were examined in both female and male zebrafish exposed to different concentrations of 0.79, 18.60, 36.83 mg L(-1) of fluoride for 30 and 60 d to investigate the effects of fluoride on reproductive system and the underlying toxic mechanisms caused by fluoride. The results showed that the body weight was remarkably decreased, the structure of ovary and testis were serious injured, and the T and E2 levels were significantly reduced in male zebrafish. The transcriptional profiles of steroidogenic related genes displayed phenomenal alterations, the expressions of pgr and cyp19a1a were significantly up-regulated, while the transcriptional levels of er, ar and hsd3β were decreased both in the ovary and testis, and hsd17β8 were down-regulated just in males. Taken together, these results demonstrated that fluoride could significantly inhibit the growth of zebrafish, and notably affect the reproductive system in both sex zebrafish by impairing the structure of ovary and testis, altering steroid hormone levels and steroidogenic genes expression related to the synthesis of sex hormones in zebrafish.

Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual disability or congenital hemidysplasia. Case presentation An 8-year-old boy presented with a 260-kb NSDHL-containing duplication at Xq28 (151,868,909 – 152,129,300) inherited from his mother. His clinical features included defects in social communication and interaction, restricted interests, attention deficit, impulsive behaviour, minor facial anomalies and serum free fatty acid abnormality. Conclusion This is the first report of an ASD patient with a related NSDHL-containing duplication at Xq28. Further studies and case reports are required for genetic research to demonstrate that duplication as well as mutation can cause neurodevelopmental diseases. Electronic supplementary material The online version of this article (10.1186/s12881-018-0705-7) contains supplementary material, which is available to authorized users.

To evaluate the effects of a 26-week, high-intensity, parent-implemented Early Start Denver Model (P-ESDM) intervention on developmental outcomes, severity of autism spectrum disorder (ASD), and parental stress of ASD toddlers in China. Subjects in P-ESDM group (n = 23) were recruited from 1.5- to 2.5-year-old toddlers who were screened positive in Xuhui and Minhang Districts and were diagnosed with ASD. A community (comparison) group of age-matched toddlers with ASD (n = 20) was recruited from other areas. Subjects of the P-ESDM group attended 1.5-hr parent coaching per week for 26 weeks, and those in the community group received interventions available from communities. Assessments were conducted at baseline (T1) and 26 weeks later (T2). After adjusting for baseline differences between the two groups, P-ESDM group demonstrated greater improvement than the community group in general development, especially in Language domain. Neither group demonstrated significant change in ASD severity, but the P-ESDM group showed greater improvement in social affect, parent-reported social communication and symbolic play than community group did. Finally, parents in P-ESDM group experienced decreased parenting stress while those in community group showed an opposite trend, though the differences did not reach significant association with the P-ESDM intervention. Chinese toddlers with ASD receiving 26 weeks of P-ESDM via regular coaching sessions showed significant greater improvement than those receiving community interventions in multiple aspects of development including social communications. These findings add support to the importance of providing early screening, diagnosis, and immediate referral for evidence-based interventions to improve outcome of young children with ASD. Autism Res 2018, 11: 654-666. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.The development of early screening and diagnosis of autism spectrum disorder (ASD) in China has highlighted the importance of early intervention for young children with ASD. Our current study demonstrated that parent-implemented Early Start Denver Model (P-ESDM) via coaching from professionals improved developmental outcomes, especially in the language domain, and social communicational behaviors of Chinese toddlers with ASD. P-ESDM may help parents in China provide effective early intervention to their children with ASD via improving their skills when they are still at a waiting list for services or lack access to intervention, and has the potential to alleviate their parenting stress.

This study aimed to investigate the effects of long-term fluoride exposure on object recognition memory and mRNA expression of soluble N-ethylmaleimidesensitive fusion protein attachment protein receptors (SNARE) complex (synaptosome-associated protein of 25 kDa (SNAP-25), vesicle-associated membrane protein 2 (VAMP-2), and syntaxin 1A) in the hippocampus of male mice. Sixty sexually matured male Kunming mice were randomly divided into four groups: control group (given distilled water), low F group (25 mg/L NaF, corresponding to 11 mg/L F(-)), medium F group (50 mg/L NaF, corresponding to 22 mg/L F(-)), and high F group (100 mg/L NaF, corresponding to 45 mg/L F(-)). After 180 days, the spontaneous locomotor behavior and object recognition memory were detected by open field test and novel object recognition (NOR) test. Results showed that compared with the control group, frequency in each zone, total distance, and line crosses were significantly increased in low F and medium F groups, suggesting fluoride enhanced excitement of mice, while there were no marked changes in high F group. Twenty-four hours after training, a deficit of long-term memory (LTM) occurred only in high F group (P < 0.05), but there was no significant change of short-term memory (STM) 1.5 h later. The mRNA expression levels of SNAP-25, VAMP-2, and syntaxin 1A were detected by real-time quantitative RT-PCR, which revealed that the mRNA expression of VAMP-2 was significantly increased in medium F and high F groups (P < 0.01). Taken together, these results indicated that long-term fluoride administration can enhance the excitement of male mice, impair recognition memory, and upregulate VAMP-2 mRNA expression, which are involved in the adverse effects of fluoride on the object recognition memory of nervous system.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose prevalence has increased rapidly in recent decades. Advances in the fields of intervention for ASD have contributed to a more optimistic outcome for children with ASD. Furthermore, the development of early detection, screening, and diagnosis has highlighted the importance of early intervention for young children with ASD. The present article reviews commonly used intervention approaches for children with ASD in China, including recently introduced approaches and originally developed Chinese models for early intervention, and then briefly summarizes the progress and challenges of intervention in combination with associated services and supports.

Florfenicol is extensively used in livestock to prevent or cure bacterial infections. However, it is not known whether the administration of florfenicol has resulted in the emergence and dissemination of florfenicol resistance genes (FRGs, including fexA, fexB, cfr, optrA, floR and pexA) in microbial populations in surrounding farm environments. Here we collected soil samples for the detection of FRGs and the residue of florfenicol from six swine farms with the record of florfenicol usage. Quantitative polymerase chain reaction and metagenomic sequencing revealed a significantly higher relative abundance of FRGs in the soils adjacent to the three swine farms where florfenicol was heavily used compared with the other sites. Meanwhile, the detectable levels of florfenicol were also identified in soils from two of these three farms using ultra-performance liquid chromatography tandem mass spectrometry. It appears that amount of florfenicol used on swine farms and the spreading of soils with swine waste could promote the prevalence and abundance of FRGs, including the linezolid resistance genes cfr and optrA, in adjacent soils and agricultural application of swine manure with florfenicol may have caused a residual level of florfenicol in the soils.

Background The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of the L1 family of neural cell adhesion molecules, and it plays a role in nervous system development and synaptic plasticity. Moreover, studies of mice have revealed that CHL1 is a prime candidate gene for a dosage-sensitive autosomal form of mental retardation. To date, four patients with a microdeletion and two with a microduplication of 3p26.3 encompassing only the CHL1 gene have been reported in literature. Case presentation In the present study, we have described a 16-month-old boy with autism spectrum disorder (ASD), developmental delay and minor dysmorphic facial features. This is the first report of a duplication of 3p26.3 including only the CHL1 gene in an ASD patient, and this duplication is the smallest reported to date in this gene. We also reviewed CHL1 gene mutation cases and examined whether this gene has an important role in cognitive function. Conclusions We conclude that both CHL1 deletions and duplications are likely responsible for the patient’s impaired cognitive function, and CHL1 may be an intriguing ASD candidate gene.

Propranolol has been widely used in the treatment of infantile hemangiomas since 2008. This study aimed to investigate complications of systemic propranolol therapy for infantile hemangiomas, especially its effect on infants' physical growth. In this study, propranolol was given at a dose of 2 mg/kg per day. Abnormal symptoms and growth parameters were recorded in detail during the therapy. Follow-up visits were arranged to continue at least through the age of 2 years. A total of 76 patients with complete growth parameters were enrolled into the study. Complications of propranolol were minor, and mainly included sleeping disorders, diarrhea, decrease in fasting glucose, bronchial hyperactivity and hyperkalemia. Four (5.26%) patients' growth curve dropped off more than 20 percentiles during therapy and half of them returned to normal after withdrawal of the medications. None of them suffered from underweight, wasting or stunning when medication was stopped. Systemic propranolol was proved to be a safe treatment for problematic infantile hemangiomas and did not affect the physical growth.

Bisphenol A (BPA), a component of polycarbonate and epoxy resins, has been reported to adversely impact the central nervous system, especially with respect to learning and memory. However, the precise effect and specific mechanisms have not been fully elucidated. In the present study, pregnant Sprague-Dawley rats were orally administered with BPA at 0.05, 0.5, 5 or 50mg/kg·body weight (BW) per day from embryonic day 9 (E 9) to E 20. We examined the effects of maternal BPA exposure on memory and synaptic structure in the hippocampus of male offspring at postnatal day (PND) 21. Maternal BPA exposure significantly affected locomotor activity, exploratory habits, and emotional behavior in open field test, and increased reference and especially working memory errors in the radial arm maze during the postnatal developing stage. Maternal BPA exposure had an adverse effect on synaptic structure, including a widened synaptic cleft, a thinned postsynaptic density (PSD), unclear synaptic surface and disappeared synaptic vesicles. Furthermore, maternal BPA exposure decreased the mRNA and protein expressions of synaptophysin, PSD-95, spinophilin, GluR1 and NMDAR1 in the hippocampus of male offspring on PND 21. These results showed that fetal growth and development was more sensitive to BPA exposure. The decreased learning and memory induced by maternal exposure to BPA in this study may be involved in synaptic plasticity alteration.

Copy number variation (CNV) in 15q11.2, especially between BP1 and BP2, has been reported to be pathogenic and associated with autism spectrum disorder in White populations (Madrigal et al., 2012; Sorte et al., 2013). The segment between BP1 and BP2 contains four evolutionarily conserved genes, TUBGCP5, NIPA1, NIPA2, and CYFIP1, which are widely expressed in the neuronal tissue. Here, we report a microdeletion of chromosome 15q11.2 in a pair of Chinese autistic monozygotic twins. Diagnoses were made on the basis of a clinical evaluation using the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) and Autism Diagnostic Observation Schedule (ADOS). Genomic DNA was extracted from peripheral blood using the QIAamp DNA Blood Mini Kit (Cat# 51104; Qiagen, Hilden, Germany). We screened for the dosage of TUBGCP5, NIPA1, and CYFIP1 by real-time quantitative PCR to identify the copy number changes between BP1 and BP2 in 15q11.2. Whole-genome CNV analysis was then carried out using Agilent SurePrint G3 Human CGH Microarray 1×1 mol/l (Cat# G4824A-021529; Agilent Santa Clara, California, USA) to confirm these changes. Data analysis and CNV identification were carried out on Agilent Genomic Workbench Lite, edition 6.5. All CNVs were checked against the Database of Genomic Variants (http://projects.tcag.ca/variation) to determine whether they have been reported previously in autism spectrum disorder patients. The study was approved by the ethical committee of the Children’s Hospital of Fudan University. The monozygotic twins were found to carry a 434.4 kbp deletion in 15q11.2 (22 756 650–23 191 062), spanning five genes (TUBGCP5, CYFIP1, NIPA2, NIPA1, and WHAMML, the former four expressed widely in the neuronal tissue). Besides this, a duplication of 15q11.1-11.2 (20 432 851–22 586 951), often identified in the general population, was also detected. The duplicated region starts with HERC2P3 and ends with REREP3. None of the genes in the duplicated region have been reported to be associated with autism or other neurodevelopmental disorders. The monozygotic twin boys were 3 years old at the time of examination, born by Cesarean section after a natural pregnancy of 31 weeks’ gestation with low birth weight. Their height, weight, and head circumference were in the normal range at the time of examination. Phenotypically and clinically, the Chinese identical twins with autistic disorder bear a close resemblance to previously described patients in the White population. Principal among these are typical autistic features, mental retardation, language and motor delay, seizures, and slightly hypotonic. However, the two patients with the 15q11.2 deletion had no obvious dysmorphic features, no high/narrow forehead, no downturned mouth, no almond-shaped eyes, or small hands and feet. Interestingly, developmental regression characterized by a loss of previously acquired abilities and the appearance of autistic behaviors was observed in the twins (Lainhart et al., 2002; Baird et al., 2008). There was no family history for neurodevelopmental or neuropsychiatric disorders. In conclusion, our study indicates that the 15q11.2 deletion is present in Chinese Han autism patients, with clinical characteristics similar to those reported in patients of American or European descent. The identification of the 15q11.2 deletion provides additional support for the pathogenic nature of this CNV. Importantly, autistic regression observed in these twins with the 15q11.2 deletion had not been reported. Thus, this report may provide new insight into the pathogenesis of the 15q11.2 deletion.

Titanium dioxide nanoparticles (nano-TiO2) are frequently used in cosmetics, paints, sunscreens and the like. Recent studies have demonstrated that nano-TiO2 might be deleterious for the male reproductive function. However, the effects of pubertal nano-TiO2 exposure on testosterone (T) synthesis and spermatogenesis remained to be elucidated. Here, we investigated the effect of pubertal nano-TiO2 exposure on the synthesis of T and spermatogenesis. Nano-TiO2 was orally administered daily to Kunming male mice from 28th postnatal day (PND 28) to PND 70. The percentage of spermatozoa abnormality in epididymides was markedly increased in mice exposed to nano-TiO2; decreased layers of spermatogenic cells and vacuoles in seminiferous tubules were also observed in the nano-TiO2 treated group. In addition, pubertal nano-TiO2 exposure significantly decreased the serum T levels in male mice. Moreover, mice exposures to nano-TiO2 significantly reduced the expression of 17β-hydroxysteroid dehydrogenase and P450 17α-hydroxysteroid dehydrogenase in the testis of mice, while the expression of cytochrome P450-19, a key enzyme for the translation of T to estradiol (E2), was increased. Taken together, these results indicated that nano-TiO2 could influence the levels of serum T through changes in both the synthesis and translation of T. Furthermore, the decreased serum T synthesis might contribute to the reduced spermatogenesis in mice exposed to nano-TiO2.

A 56-day feeding experiment was conducted to investigate the effects of yeast chromium (Cr, 300 μg/kg diet) and/or L-carnitine (100 mg/kg diet) on lipid metabolism and their interaction in sheep. After a 14-day adaptation period, 32 3-month-old sheep were randomly divided into four groups of eight. All sheep were fed with basal diets according to the American feeding standard of the National Research Council. At the end of the experiment, yeast Cr and/or L-carnitine supplementation significantly decreased abdominal fat mass and abdominal fat percentage, suggesting an improved mutton quality. Compared with the control group, the ratio of glucose to insulin was significantly increased, due to unchanged glucose levels and reduced insulin levels in yeast Cr and/or L-carnitine supplement groups, indicating high insulin sensitivity and well-controlled serum glucose levels. In addition, yeast chromium and/or L-carnitine induced significant decreases in serum triglyceride levels and serum total cholesterol levels, while increasing serum free fatty acid levels and high-density lipoproteincholesterol levels. The findings show that adding a yeast Cr and/or L-carnitine supplement may give better control of glucose and lipid variables.