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We present 4k video and whole transcriptome data for seven deep-sea invertebrate animals collected in the Eastern Pacific Ocean during a research expedition onboard the Schmidt Ocean Institute's R/V Falkor in August of 2021. The animals include one jellyfish (Atolla sp.), three siphonophores (Apolemia sp., Praya sp., and Halistemma sp.), one larvacean (Bathochordaeus mcnutti), one tunicate (Pyrosomatidae sp.), and one ctenophore (Lampocteis sp.). Four of the animals were sequenced with long-read RNA sequencing technology, such that the reads themselves define a reference assembly for those animals. The larvacean tissues were successfully preserved in situ and has paired long-read reference data and short read quantitative transcriptomic data for within-specimen analyses of gene expression. Additionally, for three animals we provide quantitative image data, and a 3D model for one siphonophore. The paired image and transcriptomic data can be used for species identification, species description, and reference genetic data for these deep-sea animals., (© 2024. The Author(s).)

Background: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing. The recent advances in neuroimaging have enabled the in-utero diagnosis of MCD using fetal ultrasound or MRI., Methods: The present study retrospectively reviewed 32 cases of fetal MCD diagnosed by ultrasound or MRI. Then, the chromosome karyotype analysis, single nucleotide polymorphism array or copy number variation sequencing, and whole-exome sequencing (WES) findings were presented., Results: Pathogenic copy number variants (CNVs) or single-nucleotide variants (SNVs) were detected in 22 fetuses (three pathogenic CNVs [9.4%, 3/32] and 19 SNVs [59.4%, 19/32]), corresponding to a total detection rate of 68.8% (22/32)., Conclusion: The results suggest that genetic testing, especially WES, should be performed for fetal MCD, in order to evaluate the outcomes and prognosis, and predict the risk of recurrence in future pregnancies., (© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

The concurrent diagnoses of Buruli ulcer (BU) and cutaneous squamous cell carcinoma (SCC) is a phenomenon not previously described, despite the fact that both conditions are highly prevalent in Australia. This report presents an intriguing case of concurrent diagnoses, with clues alluding to more than one skin condition being present. The case involves a 73-year-old man with BU diagnosed on the scalp, an atypical location, which led to the consideration of malignancy, ultimately revealing concurrent SCC. This case highlights the importance of considering both conditions in patients with epidemiological risk factors, necessitating multiple lines of investigation for accurate diagnosis. Medical practitioners must remain vigilant and incorporate this possibility into their diagnostic algorithms for suspicious skin lesions to optimize treatment and outcomes. This is the first recorded instance of simultaneous diagnosis, underlining the need for enhanced awareness and attention to these unique cases., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 O’Keeffe et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Revolutionary advancements in underwater imaging, robotics, and genomic sequencing have reshaped marine exploration. We present and demonstrate an interdisciplinary approach that uses emerging quantitative imaging technologies, an innovative robotic encapsulation system with in situ RNA preservation and next-generation genomic sequencing to gain comprehensive biological, biophysical, and genomic data from deep-sea organisms. The synthesis of these data provides rich morphological and genetic information for species description, surpassing traditional passive observation methods and preserved specimens, particularly for gelatinous zooplankton. Our approach enhances our ability to study delicate mid-water animals, improving research in the world's oceans.

Objective: The purpose of this study was to describe the clinicopathological characteristics and prognosis of primary small cell carcinoma of the breast (PSCCB) and compare PSCCB with breast invasive ductal carcinoma (IDC)., Design: A retrospective cohort study., Setting: Data of patients with PSCCB and breast IDC were identified from the Surveillance, Epidemiology, and End Results (SEER) database between 2004 and 2016., Participants: Eighty-three patients with PSCCB and 410 699 patients with breast IDC were enrolled in the present cohort study., Materials and Methods: Patients with PSCCB and breast IDC were identified from the SEER database between 2004 and 2016. The clinicopathological characteristics and survival of patients with PSCCB and IDC were compared. Propensity score matching (PSM) analysis was performed to adjust for differences in baseline characteristics when comparing overall survival (OS) and cancer-specific survival (CSS). Moreover, OS-/CSS-specific nomograms were established to predict the prognosis of PSCCB., Results: Compared with IDC, PSCCB was significantly correlated with older age, male, higher pathological grade, higher TNM (tumour, node, metastases) stage, a higher proportion of triple-negative breast cancer, a lower proportion of ER/PR positivity and significantly worse clinical outcome. The median OS and CSS of patients with PSCCB were 23.0 m (95%CI 13.0 to 56.0) and 28.0 m (95%CI 18.0 to 66.0), respectively. The 5-year OS and CSS rates in the PSCCB group were 36.1% and 42.4%, respectively. In the matched cohort after PSM analysis, patients with PSCCB had significantly worse OS and CSS than IDC patients. Multivariate Cox regression analysis demonstrated that T stage and administration of chemotherapy were independent prognostic factors for both OS and CSS in patients with PSCCB. The C-index for OS-/CSS-specific nomogram was 0.75 (95%CI 0.66 to 0.85)/0.79 (95%CI 0.69 to 0.89), respectively. The calibration curve in the ROC analysis indicated that the predicted value was consistent with the actual observation value. Decision curve analysis suggested that the nomogram model has a significant positive net benefit from the risk of death and are better than the traditional TNM staging system., Conclusion: PSCCB has distinct clinicopathological characteristics, and patients with PSCCB have significantly worse clinical outcomes than those with IDC., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Liver fibrosis is the common pathological process associated with the occurrence and development of various chronic liver diseases. At present, there is still a lack of effective prevention and treatment methods in clinical practice. Hepatic stellate cell (HSC) plays a key role in liver fibrogenesis. In recent years, the study of liver fibrosis targeting HSC autophagy has become a hot spot in this research field. Angiotensin-converting enzyme 2 (ACE2) is a key negative regulator of renin-angiotensin system, and its specific molecular mechanism on autophagy and liver fibrosis needs to be further explored., Aim: To investigate the effect of ACE2 on hepatic fibrosis in mice by regulating HSC autophagy through the Adenosine monophosphate activates protein kinases (AMPK)/mammalian target of rapamycin (mTOR) pathway., Methods: Overexpression of ACE2 in a mouse liver fibrosis model was induced by injection of liver-specific recombinant adeno-associated virus ACE2 vector (rAAV2/8-ACE2). The degree of liver fibrosis was assessed by histopathological staining and the biomarkers in mouse serum were measured by Luminex multifactor analysis. The number of apoptotic HSCs was assessed by terminal deoxynucleoitidyl transferase-mediated dUTP nick-end labeling (TUNEL) and immunofluorescence staining. Transmission electron microscopy was used to identify the changes in the number of HSC autophagosomes. The effect of ACE2 overexpression on autophagy-related proteins was evaluated by multicolor immunofluorescence staining. The expression of autophagy-related indicators and AMPK pathway-related proteins was measured by western blotting., Results: A mouse model of liver fibrosis was successfully established after 8 wk of intraperitoneal injection of carbon tetrachloride (CCl 4 ). rAAV2/8-ACE2 administration reduced collagen deposition and alleviated the degree of liver fibrosis in mice. The serum levels of platelet-derived growth factor, angiopoietin-2, vascular endothelial growth factor and angiotensin II were decreased, while the levels of interleukin (IL)-10 and angiotensin- (1-7) were increased in the rAAV2/8-ACE2 group. In addition, the expression of alpha-smooth muscle actin, fibronectin, and CD31 was down-regulated in the rAAV2/8-ACE2 group. TUNEL and immunofluorescence staining showed that rAAV2/8-ACE2 injection increased HSC apoptosis. Moreover, rAAV2/8-ACE2 injection notably decreased the number of autophagosomes and the expression of autophagy-related proteins (LC3I, LC3II, Beclin-1), and affected the expression of AMPK pathway-related proteins (AMPK, p-AMPK, p-mTOR)., Conclusion: ACE2 overexpression can inhibit HSC activation and promote cell apoptosis by regulating HSC autophagy through the AMPK/mTOR pathway, thereby alleviating liver fibrosis and hepatic sinusoidal remodeling., Competing Interests: Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article., (©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.)

Preeclampsia (PE) is a pregnancy complication characterized by severe hypertension and multiple organ damage. Gut microbiota has been linked to PE by previous amplicon sequencing studies. To resolve the PE gut microbiota in a higher taxonomy resolution, we performed shotgun metagenomic sequencing on the fecal samples from 40 early-onset PE and 37 healthy pregnant women. We recovered 1,750 metagenome-assembled genomes (representing 406 species) from the metagenomic dataset and profiled their abundances. We found that PE gut microbiota had enriched in some species belonging to Blautia , Pauljensenia , Ruminococcus , and Collinsella and microbial functions such as the bacitracin/lantibiotics transport system, maltooligosaccharide transport system, multidrug efflux pump, and rhamnose transport system. Conversely, the gut microbiome of healthy pregnant women was enriched in species of Bacteroides and Phocaeicola and microbial functions including the porphyrin and chlorophyll metabolism, pyridoxal-P biosynthesis, riboflavin metabolism, and folate biosynthesis pathway. PE diagnostic potential of gut microbial biomarkers was developed using both species and function profile data. These results will help to explore the relationships between gut bacteria and PE and provide new insights into PE early warning., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Lv, Li, Wen, Wang, Li, He, Lv, Xiao, Duan, Chen, Yi, Yan and Yin.)

Purpose: Tumor delineation plays a critical role in radiotherapy for hepatocellular carcinoma (HCC) patients. The incorporation of MRI might improve the ability to correctly identify tumor boundaries and delineation consistency. In this study, we evaluated a novel Multisource Adaptive MRI Fusion (MAMF) method in HCC patients for tumor delineation., Methods: Ten patients with HCC were included in this study retrospectively. Contrast-enhanced T1-weighted MRI at portal-venous phase (T1W PP ), contrast-enhanced T1-weighted MRI at 19-min delayed phase (T1W DP ), T2-weighted (T2W), and diffusion-weighted MRI (DWI) were acquired on a 3T MRI scanner and imported to in-house-developed MAMF software to generate synthetic MR fusion images. The original multi-contrast MR image sets were registered to planning CT by deformable image registration (DIR) using MIM. Four observers independently delineated gross tumor volumes (GTVs) on the planning CT, four original MR image sets, and the fused MRI for all patients. Tumor contrast-to-noise ratio (CNR) and Dice similarity coefficient (DSC) of the GTVs between each observer and a reference observer were measured on the six image sets. Inter-observer and inter-patient mean, SD, and coefficient of variation (CV) of the DSC were evaluated., Results: Fused MRI showed the highest tumor CNR compared to planning CT and original MR sets in the ten patients. The mean ± SD tumor CNR was 0.72 ± 0.73, 3.66 ± 2.96, 4.13 ± 3.98, 4.10 ± 3.17, 5.25 ± 2.44, and 9.82 ± 4.19 for CT, T1W PP , T2W, DWI, T1W DP , and fused MRI, respectively. Fused MRI has the minimum inter-observer and inter-patient variations as compared to original MR sets and planning CT sets. GTV delineation inter-observer mean DSC across the ten patients was 0.81 ± 0.09, 0.85 ± 0.08, 0.88 ± 0.04, 0.89 ± 0.08, 0.90 ± 0.04, and 0.95 ± 0.02 for planning CT, T1W PP , T2W, DWI, T1W DP , and fused MRI, respectively. The patient mean inter-observer CV of DSC was 3.3%, 3.2%, 1.7%, 2.6%, 1.5%, and 0.9% for planning CT, T1W PP , T2W, DWI, T1W DP , and fused MRI, respectively., Conclusion: The results demonstrated that the fused MRI generated using the MAMF method can enhance tumor CNR and improve inter-observer consistency of GTV delineation in HCC as compared to planning CT and four commonly used MR image sets (T1W PP , T1W DP , T2W, and DWI). The MAMF method holds great promise in MRI applications in HCC radiotherapy treatment planning., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer JW declared a shared affiliation, with no collaboration, with two of the authors, LZ, JC, to the handling editor at the time of the review., (Copyright © 2022 Cheung, Zhang, Liu, Li, Cheung, Leung, Leung, Lam, Lee and Cai.)

Older people are increasingly dependent on others to support their daily activities due to geriatric symptoms such as dementia. Some of them stay in long-term care facilities. Elderly people with night wandering behaviour may lose their way, leading to a significant risk of injuries. The eNightLog system was developed to monitor the night-time bedside activities of older people in order to help them cope with this issue. It comprises a 3D time-of-flight near-infrared sensor and an ultra-wideband sensor for detecting human presence and to determine postures without a video camera. A threshold-based algorithm was developed to classify different activities, such as leaving the bed. The system is able to send alarm messages to caregivers if an elderly user performs undesirable activities. In this study, 17 sets of eNightLog systems were installed in an elderly hostel with 17 beds in 9 bedrooms. During the three-month field test, 26 older people with different periods of stay were included in the study. The accuracy, sensitivity and specificity of detecting non-assisted bed-leaving events was 99.8%, 100%, and 99.6%, respectively. There were only three false alarms out of 2762 bed-exiting events. Our results demonstrated that the eNightLog system is sufficiently accurate to be applied in the hostel environment. Machine learning with instance segmentation and online learning will enable the system to be used for widely different environments and people, with improvements to be made in future studies.

Background Recent trials have shown that low-density lipoprotein cholesterol (LDL-C) <1.80 mmol/L (<70 mg/dL) is associated with a reduced risk of major adverse cardiovascular events in White patients with ischemic stroke with atherosclerosis. However, it remains uncertain whether the findings can be generalized to Asian patients, or that similar LDL-C targets should be adopted in patients with stroke without significant atherosclerosis. Methods and Results We performed a prospective cohort study and recruited consecutive Chinese patients with ischemic stroke with magnetic resonance angiography of the intra- and cervicocranial arteries performed at the University of Hong Kong between 2008 and 2014. Serial postevent LDL-C measurements were obtained. Risk of major adverse cardiovascular events in patients with mean postevent LDL-C <1.80 versus ≥1.80 mmol/L, stratified by presence or absence of significant (≥50%) large-artery disease (LAD) and by ischemic stroke subtypes, were compared. Nine hundred four patients (mean age, 69±12 years; 60% men) were followed up for a mean 6.5±2.4 years (mean, 9±5 LDL-C readings per patient). Regardless of LAD status, patients with a mean postevent LDL-C <1.80 mmol/L were associated with a lower risk of major adverse cardiovascular events (with significant LAD: multivariable-adjusted subdistribution hazard ratio, 0.65; 95% CI, 0.42-0.99; without significant LAD: subdistribution hazard ratio, 0.53; 95% CI, 0.32-0.88) (both P <0.05). Similar findings were noted in patients with ischemic stroke attributable to large-artery atherosclerosis (subdistribution hazard ratio, 0.48; 95% CI, 0.28-0.84) and in patients with other ischemic stroke subtypes (subdistribution hazard ratio, 0.64; 95% CI, 0.43-0.95) (both P <0.05). Conclusions A mean LDL-C <1.80 mmol/L was associated with a lower risk of major adverse cardiovascular events in Chinese patients with ischemic stroke with and without significant LAD. Further randomized trials to determine the optimal LDL-C cutoff in stroke patients without significant atherosclerosis are warranted.

Objective: To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/β complex thalassemia couple., Methods: The coding regions of α-globin genes (HBA1, HBA2) and β-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis., Results: Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/β complex thalassemia, one was β-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term., Conclusion: Preimplantation genetic diagnosis can be carried out by NGS technology in α/β complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.

Wandering is a common behavioral disorder in the community-dwelling elderly. More than two-thirds of caregivers believe that wandering would cause falls. While physical restraint is a common measure to address wandering, it could trigger challenging behavior in approximately 80% of the elderly with dementia. This study aims to develop a virtual restraint using a night monitoring system (eNightLog) to provide a safe environment for the elderly and mitigate the caregiver burden. The eNightLog system consisted of remote sensors, including a near infra-red 3D time-of-flight sensor and ultrawideband sensors. An alarm system was controlled by customized software and algorithm based on the respiration rate and body posture of the elderly. The performance of the eNightLog system was evaluated in both single and double bed settings by comparing to that of a pressure mat and an infrared fence system, under simulated bed-exiting scenarios. The accuracy and precision for the three systems were 99.0%, 98.8%, 85.9% and 99.2%, 97.8%, 78.6%, respectively. With higher accuracy, precision, and a lower false alarm rate, eNightLog demonstrated its potential as an alternative to physical restraint to remedy the workload of the caregivers and the psychological impact of the elderly.

Background: Hand, foot, and mouth disease (HFMD) is a common infectious disease occurring in children under 5 years of age worldwide, and Enterovirus A71 (EV-A71) and Coxsackievirus A16 (CVA-16) are identified as the predominant pathogens. In recent years, Coxsackievirus A6 (CVA-6) and Coxsackievirus A10 (CVA-10) have played more and more important role in a series of HFMD outbreaks. This study aimed to understand the epidemic characteristics associated with HFMD outbreak in Guangzhou, 2018., Methods: The clinical and laboratory data of 1220 enterovirus-associated HFMD patients in 2018 were analysed in this study. Molecular diagnostic methods were performed to identify its serotypes. Phylogenetic analyses were depicted based on the complete VP1 gene., Results: There were 21 enterovirus serotypes detected in Guangzhou in 2018. Three serotypes of enterovirus, CVA-6 (364/1220, 29.8%), CVA-10 (305/1220, 25.0%), and CVA-16 (397/1220, 32.5%), were identified as the causative pathogens and accounted for 87.3% among all 1220 HFMD patients. In different seasons, CVA-6 was the predominant pathogen of HFMD during autumn, and CVA-10 as well as CVA-16 were more prevalent in summer. Patients infected by CVA-6, CVA-10 or CVA-16 showed similar clinical features and laboratory characteristics, and the ratios of severe HFMD were 5.8, 5.9, and 1.5% in the three serotypes. Phylogenetic analyses of VP1 sequences showed that the CVA-6, CVA-10, and CVA-16 sequences belonged to the sub-genogroup E2, genogroup E, and genogroup B1, respectively., Conclusions: CVA-6, CVA-10, and CVA-16 were the predominant and co-circulated serotypes in Guangzhou China, 2018, which should be the new target for prevention and control of HFMD. Our findings provide useful information for diagnosis, treatment, and prevention of HFMD.

Background: Recent studies have reported the occurrence of medial tibial bone resorption following total knee replacement. One study proposed that a thick tibial tray results in stress shielding and increases the risk of bone resorption, but its findings were based on subjective radiological assessment. This study aimed to verify this hypothesis and to objectively quantify medial tibial bone density by using serial measurements with digital radiological densitometry., Methods: This was a retrospective cohort study involving 140 patients (70 thick tray vs. 70 thin tray) with cobalt-chromium implants with at least 24 months of follow-up. Standard radiographs were reviewed to look for incidence of medial tibial bone loss. Serial measurement of medial tibial bone density was also performed using the method of digital radiological densitometry., Results: There was no significant difference in the incidence of medial tibial bone loss. Both groups showed a significant drop in medial tibial bone density after operation (P < 0.01). Medial tibial bone density of the thick-tray cohort was significantly higher than the thin-tray cohort at one year (93.3 vs. 83.1 Greyscale; P = 0.04), but not at two and three years. Clinical outcomes in terms of postoperative range of motion, Knee Society score and complication rates were similar., Conclusions: Medial tibial bone resorption is a common phenomenon. Implants with thicker tibial trays suffer less than those with thinner trays at one year, but the difference is transient and does not affect clinical outcome., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Copyright © 2019 Elsevier B.V. All rights reserved.)

CSRP3/MLP (cysteine-rich protein 3/muscle Lim protein), a member of the cysteine-rich protein family, is a muscle-specific LIM-only factor specifically expressed in skeletal muscle. CSRP3 is critical in maintaining the structure and function of normal muscle. To investigate the mechanism of disease in CSRP3 myopathy, we performed siRNA-mediated CSRP3 knockdown in chicken primary myoblasts. CSRP3 silencing resulted in the down-regulation of the expression of myogenic genes and the up-regulation of atrophy-related gene expressions. We found that CSRP3 interacted with LC3 protein to promote the formation of autophagosomes during autophagy. CSRP3-silencing impaired myoblast autophagy, as evidenced by inhibited autophagy-related ATG5 and ATG7 mRNA expression levels, and inhibited LC3II and Beclin-1 protein accumulation. In addition, impaired autophagy in CSRP3-silenced cells resulted in increased sensitivity to apoptosis cell death. CSRP3-silenced cells also showed increased caspase-3 and caspase-9 cleavage. Moreover, apoptosis induced by CSRP3 silencing was alleviated after autophagy activation. Together, these results indicate that CSRP3 promotes the correct formation of autophagosomes through its interaction with LC3 protein, which has an important role in skeletal muscle remodeling and maintenance., Competing Interests: The authors declare no conflict of interest.

Objective: To evaluate the association between the fetal fraction of cell-free DNA at the second trimester and subsequent spontaneous preterm birth., Methods: In this retrospective cohort study, data were collected from women with singleton pregnancies who underwent noninvasive prenatal testing at 14 to 25 weeks of gestation. The eligible patients were classified into three groups according to pregnancy outcome: birth at ≥37 weeks of gestation (term group), delivery at <34 weeks of gestation (early spontaneous preterm), and delivery at 34 +0 to 36 +6  weeks of gestation (late spontaneous preterm). Stepwise linear regression was performed to determine the maternal characteristics associated with the fetal fraction of cell-free DNA. Logistic regression was used to determine the relationship between the fetal fraction of cell-free DNA and pregnancy outcomes by adjusting for history of preterm birth., Results: A total of 8129 singleton pregnancies met the recruitment criteria. Among them, 7790 (95.83%) were in the term group, 284 (3.49%) were in the late spontaneous preterm group, and 55 (0.68%) were in the early spontaneous preterm group. The fetal fraction of cell-free DNA was negatively correlated with body mass index, maternal age, nulliparity, and history of spontaneous preterm birth; positively correlated with gestational age; and not correlated with assisted reproduction or surface antigen of hepatitis B virus (HBsAg) positivity. After adjusting for history of preterm birth, a logistic regression analysis demonstrated no statistically significant associations between the fetal fraction of cell-free DNA and spontaneous preterm birth in any of the preterm groups (<34 weeks, 34 +0 to 36 +6  weeks, and <37 weeks)., Conclusion: Our preliminary study found no relationship between the fetal fraction on NIPT at the second trimester and subsequent spontaneous preterm birth., (© 2019 John Wiley & Sons, Ltd.)

Background: Imbalances in gut microbiota composition are linked to hypertension, host metabolic abnormalities, systemic inflammation, and other conditions. In the present study, we examined the changes of gut microbiota in women with early-onset preeclampsia (PE) and in normotensive, uncomplicated pregnant women during late pregnancy and at 1 and 6 weeks postpartum. Methods: Gut microbiota profiles of women with PE and healthy pregnant women in the third trimester and at 1 and 6 weeks postpartum were assessed by 16S rRNA gene amplicon sequencing. Plasma levels of interleukin-6 (IL-6), intestinal fatty acid-binding protein (I-FABP), zonulin, and lipopolysaccharide (LPS) were measured in the third trimesters. Results: At the genus level, 8 bacterial genera were significantly enriched in the antepartum samples of PE patients compared to healthy controls, of which Blautia, Ruminococcus2, Bilophila , and Fusobacterium represented the major variances in PE microbiomes. Conversely, 5 genera, including Faecalibacterium, Gemmiger, Akkermansia, Dialister , and Methanobrevibacter , were significantly depleted in antepartum PE samples. Maternal blood pressure and liver enzyme levels were positively correlated to the PE-enriched genera such as Anaerococcus, Ruminococcus2, Oribacterium , and Bilophila , while the fetal features (e.g., Apgar score and newborn birth weight) were positively correlated with PE-depleted genera and negatively correlated with PE-enriched genera. Moreover, maternal blood IL-6 level was positively associated with gut Bilophila and Oribacterium , whereas LPS level was negatively associated with Akkermansia . In terms of postpartum women, both the gut microbial composition and the PE-associated microbial alterations were highly consistent with those of the antepartum women. Conclusion: PE diagnosed in the third trimester of pregnancy is associated with a disrupted gut microbiota composition compared with uncomplicated pregnant women, which are associated with maternal clinical features (blood pressure level and liver dysfunction) and newborn birth weight. Moreover, these antepartum alterations in gut microbiota persisted 6 weeks postpartum.

The gene - environment (G × E) interaction effect is involved in severe mental disorders. However, whether the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism participates in the childhood-abuse influenced schizophrenic symptoms remains unclear. We examined the interaction between BDNF Val66Met, and childhood trauma (ChT) on psychotic symptoms in a Chinese Han population.To estimate the G × E interaction, psychiatric interviews, self-report questionnaires for ChT, and genotyping for BDNF Val66Met were carried out on 201 schizophrenic patients. G × E interactions were analyzed by generalized multifactor dimensionality reduction (GMDR).Among all patients, 11.9%, 19.4%, 23.4%, 26.4%, and 73.6% reported emotional abuses, physical abuses (PA), sexual abuses (SA), emotional neglects (EN), and physical neglects (PN), respectively. Significant negative correlations were observed between anxiety/depression factors, and ChT total scores. Patients with 3 different BDNF genotypes showed significant differences in anxiety/depression scores. Significant 2-way interactions were found for Val66Met × PN, 3-way interactions were found for Val66Met × PN × PA, and four-way interactions were found for Val66Met × PN × PA × EN with regard to the excitement scores.Our findings suggested an involvement of BDNF Val66Met polymorphism after ChT in terms of risk for schizophrenia symptoms.

Objective: To investigate the frequency and mutation spectrum of hearing loss-associated gene mutation in Neonatal Intensive Care Unit (NICU)., Methods: Neonates (n=2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss-associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected., Result: There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3.1%, with 40 cases GJB2 (235del C) mutation (54.8%), 6 cases GJB2 (299 del AT) mutation (8.2%), 21 cases SLC26A4 (IVS 7-2 A > G) mutation (28.7%), 4 cases SLC26A4 (2168 A > G) mutation (5.5%), 2 cases of GJB2 (235del C) combined SLC26A4 (IVS 7-2 A > G, 2168 A > G) mutation (2.8%). Among 73 gene mutation cases, preterm neonates presented in 18 cases, accounting for 24.7% (18/73); hyperbilirubinemia in 13 cases, accounting for 17.8% (13/73); Torch Syndrome in 15 cases, with 12 cases CMV, 2 cases rubella, 1 case toxoplasm, respectively, totally accounting for 20.54% (15/73); neonatal pneumonia in 12 cases, accounting for 16.4% (12/73); birth asphyxia in 5 cases, accounting for 6.9% (5/73); sepsis in 5 cases, accounting for 6.9% (5/73); others in 5 cases, accounting for 6.8% (5/73) ., Conclusions: The frequency of hearing loss-associated gene mutation was higher in NICU.There were hearing loss-associated gene mutations in the NICU, suggesting this mutation may complicate with perinatal high-risk factors.

Objective: To evaluate the effect of human CCR1 (hCCR1) gene overexpression on the migration of human bone marrow-derived mesenchymal stem cells (hMSCs) towards hepatocellular carcinoma (HCC), and to examine the application prospects of MSCs as gene delivery vectors in the treatment of HCC. Methods: The hCCR1 gene was subcloned into a lentiviral vector to generate the recombinant plasmid pLV-hCCR1. The pLV-hCCR1 plasmid and two other packaging plasmids were co-transfected into 293T cells using calcium phosphate, and the virus-containing supernatant was collected. hMSCs were then infected with the recombinant lentivirus, and the expression of hCCR1 mRNA and protein was analyzed by RT-PCR and Western blot, respectively. The effect of CCR1 gene overexpression on the in vitro migration of hMSCs was examined using the Transwell migration assay. Orthotopic nude mice models of HCC were established using the MHCC-97H-GFP cell line, and the mice were divided into two groups ( n = 8 per group). hMSCs were then intravenously injected via the tail vein into the tumor-bearing nude mice to examine the effect of hCCR1 overexpression on the in vivo migration of hMSCs towards HCC. Unpaired Student's t-test was used for two-group comparisons, and one-way ANOVA was used for multi-group comparisons. Results: Restriction enzyme digestion and DNA sequencing demonstrated that the recombinant plasmid pLV-hCCR1 was constructed successfully. The LV-hCCR1 lentivirus packaged by 293T cells has high infection efficiency in hMSCs, and hCCR1 was overexpressed in hMSCs after LV-hCCR1 infection. Transwell migration assay showed that hCCR1-transfected hMSCs had significantly enhanced migration towards HCC cell line-derived condition medium (CM) compared with the control RFP-hMSCs [(134.8±15.7)/LPF vs (83.5±10.9)/LPF, t = 10.40, P < 0.01]. In vivo migration experiment also demonstrated that there was significantly higher number of hCCR1-hMSCs localized within the MHCC-97H-GFP xenografts than hMSCs-RFP on day 14 following intravenous injection of hMSCs in mice [(86.7±14.1)/HPF vs (54.5±9.6)/HPF, t = -7.32, P < 0.01]. Conclusion: Overexpression of CCR1 gene can significantly enhance the migration capacity of hMSCs towards HCC cells in vitro and in vivo. This study provides evidence for potential clinical application of MSCs as more effective delivery vehicles in cancer gene therapy.

Objective: To develop a new method based on droplet digital PCR (DD-PCR) for detection and quantification of maternal cell contamination in prenatal diagnosis. Methods: Invasive prenatal samples from 40 couples of β(IVS-Ⅱ-654)/β(N) thalassemia gene carriers who accepted prenatal diagnosis in Affiliated Women and Children's Hospital of Guangzhou Medical University from October 2015 to December 2016 were analyzed retrospectively. Specific primers and probes were designed. The concentration gradient were 50%, 25%, 12.5%, 6.25%, 3.125%, 1.562 5%. There were 40 groups of prenatal diagnostic samples. Comparing DD-PCR with quantitative fluorescent-PCR (QF-PCR) based on the short tandem repeats for assement of the sensitivity and accuracy of maternal cell contamination, respectively. Results: DD-PCR could quantify the maternal cell contamination as low as 1.562 5%. The result was proportional to the dilution titers. In the 40 prenatal samples, 6 cases (15%, 6/40) of maternal cell contamination were detected by DD-PCR, while the QF-PCR based on short tandem repeat showed 3 cases (7.5%, 3/40) with maternal cell contamination, DD-PCR was more accurate ( P= 0.002) . Conclusion: DD-PCR is a precise and sensitive method in the detection of maternal cell contamintation. It could be useful in clinical application.

Objective: To investigate the gut microbiota differences of obese children compared with the control healthy cohort to result in further understanding of the mechanism of obesity development., Methods: We evaluated the 16S rRNA gene, the enterotypes, and quantity of the gut microbiota among obese children and the control cohort and learned the differences of the gut microbiota during the process of weight reduction in obese children., Results: In the present study, we learned that the gut microbiota composition was significantly different between obese children and the healthy cohort. Next we found that functional changes, including the phosphotransferase system, ATP-binding cassette transporters, flagellar assembly, and bacterial chemotaxis were overrepresented, while glycan biosynthesis and metabolism were underrepresented in case samples. Moreover, we learned that the amount of Bifidobacterium and Lactobacillus increased among the obese children during the process of weight reduction., Conclusion: Our results might enrich the research between gut microbiota and obesity and further provide a clinical basis for therapy for obesity. We recommend that Bifidobacterium and Lactobacillus might be used as indicators of healthy conditions among obese children, as well as a kind of prebiotic and probiotic supplement in the diet to be an auxiliary treatment for obesity.

Objective: To investigate the value of hemoglobin A 2 (HbA 2 ) for screening thalassemia., Methods: A total of 2 000 adults' peripheral blood samples from Guangdong Women and Children Hospital from June 2013 to January 2014 were collected. The hemoglobin A 2 (HbA 2 ) level was analyzed by the full automatic capillary electrophoresis technique, and the genotypes of thalassemia were detected., Results: The optimal cutoff values of HbA 2 for screening silent α-thalassemia, α-thalassemia trait, intermedia α-thalassemia and β-thalassemia trait were 2.85%, 2.65%, 2.25% and 3.45%, respectively; the areas under receiver operator characteristic (ROC) curve were 0.709, 0.839, 0.979 and 0.997 respectively; the sensitivities were 0.481, 0.721, 0.953 and 0.994, and the specificities were 0.846, 0.837, 0.929 and 0.969 respectively., Conclusion: The optimal cutoff values of HbA 2 for screening different type of thalassemia based on our laboratory data are established by using ROC curve. According to the area under ROC curve, a satisfactory accuracy for screening intermedia α-thalassemia and β-thalassemia trait can be achieved by detecting hemoglobin A 2 level.

Purpose: "Simplified Chinese" version of Spinal Appearance Questionnaire (SC-SAQ) for patients with adolescent idiopathic scoliosis (AIS) was available but did not fit for communities using "Traditional Chinese" as their primary language. We developed a traditional Chinese version of SAQ (TC-SAQ) and evaluated its reliability and validity., Methods: TC-SAQ was administered to 112 AIS patients, of which 101 bilingual (English and Chinese) patients completed E-SAQ and the traditional Chinese version of Scoliosis Research Society-22 questionnaire (TC-SRS-22). Internal consistency and test-retest reliability were evaluated. Concurrent validity was evaluated by comparing TC-SAQ score with E-SAQ score, and convergent validity by comparing TC-SAQ score with TC-SRS-22 self-image domain score, and discriminant validity by analyzing the relationship between TC-SAQ score and patients' characteristics., Results: Internal consistency of individual TC-SAQ domain was high (Cronbach's α = 0.785 to 0.940), except for general (Cronbach's α = 0.665) and shoulders (Cronbach's α = 0.421) domain. Test-retest reliability of TC-SAQ was good (ICCs of each domain from 0.798 to 0.865). Concurrent validity demonstrated an excellent correlation between TC-SAQ and E-SAQ scores (r = 0.820 to 0.954, P < 0.0001 for all domains). Correlation between TC-SAQ domains and TC-SRS-22 self-image domain was weak to moderate. TC-SAQ total score and individual domain scores (except waist and chest domains) were positively correlated to major curve magnitude., Conclusions: TC-SAQ had good internal consistency and test-retest reliability. Concurrent validity evaluated against the original English version was excellent. TC-SAQ was both reliable and valid for clinical use for AIS patients using traditional Chinese as their primary language.

Post-Golgi protein sorting and trafficking to the plasma membrane (PM) is generally believed to occur via the trans-Golgi network (TGN). In this study using Nicotiana tabacum pectin methylesterase (NtPPME1) as a marker, we have identified a TGN-independent polar exocytosis pathway that mediates cell wall formation during cell expansion and cytokinesis. Confocal immunofluorescence and immunogold electron microscopy studies demonstrated that Golgi-derived secretory vesicles (GDSVs) labeled by NtPPME1-GFP are distinct from those organelles belonging to the conventional post-Golgi exocytosis pathway. In addition, pharmaceutical treatments, superresolution imaging, and dynamic studies suggest that NtPPME1 follows a polar exocytic process from Golgi-GDSV-PM/cell plate (CP), which is distinct from the conventional Golgi-TGN-PM/CP secretion pathway. Further studies show that ROP1 regulates this specific polar exocytic pathway. Taken together, we have demonstrated an alternative TGN-independent Golgi-to-PM polar exocytic route, which mediates secretion of NtPPME1 for cell wall formation during cell expansion and cytokinesis and is ROP1-dependent., (© 2016 American Society of Plant Biologists. All Rights Reserved.)

Background: Aneurysmal subarachnoid hemorrhage (SAH) is a highly morbid and fatal condition with high rate of cognitive impairment and negative impact in quality of life among survivors. Delayed cerebral infarction (DCI) is one the major factors for these negative outcomes. In this study we compared the circulating microRNA profiles of SAH patients and healthy individuals, and the circulating microRNA profiles of SAH patients with and without DCI., Methods: Peripheral blood samples on Day 7 after the onset of SAH were subjected to microarray analysis with Affymetrix miRNA 3.0 array and quantitative PCR analysis. SAH patients with (N = 20) and without DCI (N = 20) and Healthy controls (N = 20) were included for analyses., Results: We demonstrated that 99 miRNAs were found to be dysregulated in the SAH patient group with DCI. 81 miRNAs were upregulated and 18 were downregulated. Findings from KEGG pathway analysis showed that miRNAs and target genes for axon guidance and TGF-beta signaling were involved, implying that the resulted differential miRNA expression pattern reflect the results of SAH instead of etiology of the disease. miR-132-3p and miR-324-3p showed distinctive upregulations in qPCR [miR-132: 9.5 fold (95%CI: 2.3 to 16.7) in DCI group and 3.4 fold (95%CI: 1.0 to 5.8) in Non-DCI group; miR-324: 4924 fold (95%CI: 2620 to 7228) in DCI group and 4545 fold (95%CI: 2408 to 6683) in non-DCI group]. However, there were no significant differences in fold changes between SAH patients with and without DCI [fold change ratios (mean+/-SD): 2.7+/-4.2 and 1.1+/-1.1 for miRNA-132 and miRNA-324]., Conclusion: Our study demonstrated that as compared to healthy control, miR-132 and miR-324 showed a upregulation in both SAH DCI and Non-DCI groups. However, the differences between the SAH DCI and non-DCI groups were not statistically significant.

Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly accepted in clinical practice. We investigated whether NIPT using semiconductor sequencing platform (SSP) could reliably detect subchromosomal deletions/duplications in women carrying high-risk fetuses. We first showed that increasing concentration of abnormal DNA and sequencing depth improved detection. Subsequently, we analyzed plasma from 1,456 pregnant women to develop a method for estimating fetal DNA concentration based on the size distribution of DNA fragments. Finally, we collected plasma from 1,476 pregnant women with fetal structural abnormalities detected on ultrasound who also underwent an invasive diagnostic procedure. We used SSP of maternal plasma DNA to detect subchromosomal abnormalities and validated our results with array comparative genomic hybridization (aCGH). With 3.5 million reads, SSP detected 56 of 78 (71.8%) subchromosomal abnormalities detected by aCGH. With increased sequencing depth up to 10 million reads and restriction of the size of abnormalities to more than 1 Mb, sensitivity improved to 69 of 73 (94.5%). Of 55 false-positive samples, 35 were caused by deletions/duplications present in maternal DNA, indicating the necessity of a validation test to exclude maternal karyotype abnormalities. This study shows that detection of fetal subchromosomal abnormalities is a viable extension of NIPT based on SSP. Although we focused on the application of cell-free DNA sequencing for NIPT, we believe that this method has broader applications for genetic diagnosis, such as analysis of circulating tumor DNA for detection of cancer.

Objective: To understand the status of treatment and assistance for advanced schistosomiasis patients in Changshu City from 2006 to 2014., Methods: According to The Parasitic Disease Prevention Information Management System, the data of treatment and assistance for advanced schistosomiasis patients were collected and analyzed statistically in Changshu City from 2006 to 2014., Results: A total of 269 advanced schistosomiasis patients were assisted. The sex ratio of men: women was 0.56: 1 with an average age of 71.71 years. The ascites-type patients accounted for 78.25%, splenomegaly-type 21.20%, and colon proliferation-type 0.55%. The clinical cure rate was 12.29%, improvement rate 62.81%, and no-change 8.67%, and the total effective rate was 75.10%., Conclusion: The treatment and assistance for advanced schistosomiasis patients has achieved the basic target of improving the symptoms, relieving pains and improving the living quality.

Retinopathy of prematurity (ROP) is a serious disease of preterm neonates and there are limited systematic studies of the molecular mechanisms underlying ROP. Therefore, here we performed global gene expression profiling in human fetal retinal microvascular endothelial cells (RMECs) under hypoxic conditions in vitro. Aborted fetuses were enrolled and primary RMECs were isolated from eyeballs. Cultivated cells were treated with CoCl2 to induce hypoxia. The dual-color microarray approach was adopted to compare gene expression profiling between treated RMECs and the paired untreated control. The one-class algorithm in significance analysis of microarray (SAM) software was used to screen the differentially expressed genes (DEGs) and quantitative RT-PCR (qRT-PCR) was conducted to validate the results. Gene Ontology was employed for functional enrichment analysis. There were 326 DEGs between the hypoxia-induced group and untreated group. Of these genes, 198 were upregulated in hypoxic RMECs, while the other 128 hits were downregulated. In particular, genes in the iron ion homeostasis pathway were highly enriched under hypoxic conditions. Our study indicates that dysregulation of genes involved in iron homeostasis mediating oxidative damage may be responsible for the mechanisms underlying ROP. The "oxygen plus iron" hypothesis may improve our understanding of ROP pathogenesis.

Purpose: SpineCor is a relatively innovative brace for non-operative treatment of adolescent idiopathic scoliosis (AIS). However, the effectiveness of SpineCor still remains controversial. The objective of the current study was to compare the treatment outcomes of SpineCor brace with that of rigid brace following the standardized Scoliosis Research Society (SRS) criteria on AIS brace study., Methods: Females subjects with AIS and aged 10-14 were randomly allocated into two groups undergoing treatment of SpineCor (S Group, n = 20) or rigid brace (R Group, n = 18). During SpineCor treatment, patients who had curve progression of >5° would be required to switch to rigid brace treatment. The effectiveness of the two brace treatments was assessed using the SRS standardized criteria., Results: Before skeletal maturity, 7 (35.0%) patients in the S Group and 1 (5.6%) patient in the R Group had curve progression >5° (P = 0.026). At skeletal maturity, 5 of the 7 (71.4%) patients who failed with SpineCor bracing showed control from further progression by changing to rigid bracing. At the latest follow-up with a mean duration of 45.1 months after skeletally maturity, 29.4% of patients who were successfully treated by rigid brace showed further curve progression beyond skeletal maturity, versus 38.5% of patients in the SpineCor group (P > 0.05). For both groups, the primary curves were slightly improved at the time of brace weaning, but additionally increased at the latest follow-up, with a rate of 1.5° per year for post-maturity progression., Conclusions: Curve progression rate was found to be significantly higher in the SpineCor group when compared with the rigid brace group. Changing to rigid bracing could control further curve progression for majority of patients who previously failed with SpineCor bracing. For both SpineCor and rigid brace treatments, 30-40% of patients who were originally successfully treated by bracing would exhibit further curve progression beyond skeletal maturity. The post-maturity progression rate was found to be 1.5° per year in the current study, which was relatively greater than those reported before.

Statement of Problem: In spite of its importance in prosthesis precision and quality, the 3-dimensional repositioning accuracy of cast mounting systems has not been reported in detail., Purpose: The purpose of this study was to quantify the 3-dimensional repositioning accuracy of 6 selected cast mounting systems. Five magnetic mounting systems were compared with a conventional screw-on system., Material and Methods: Six systems on 3 semiadjustable articulators were evaluated: Denar Mark II with conventional screw-on mounting plates (DENSCR) and magnetic mounting system with converter plates (DENCON); Denar Mark 330 with in-built magnetic mounting system (DENMAG) and disposable mounting plates; and Artex CP with blue (ARTBLU), white (ARTWHI), and black (ARTBLA) magnetic mounting plates. Test casts with 3 high-precision ceramic ball bearings at the mandibular central incisor (Point I) and the right and left second molar (Point R; Point L) positions were mounted on 5 mounting plates (n=5) for all 6 systems. Each cast was repositioned 10 times by 4 operators in random order. Nine linear (Ix, Iy, Iz; Rx, Ry, Rz; Lx, Ly, Lz) and 3 angular (anteroposterior, mediolateral, twisting) displacements were measured with a coordinate measuring machine. The mean standard deviations of the linear and angular displacements defined repositioning accuracy., Results: Anteroposterior linear repositioning accuracy ranged from 23.8 ±3.7 μm (DENCON) to 4.9 ±3.2 μm (DENSCR). Mediolateral linear repositioning accuracy ranged from 46.0 ±8.0 μm (DENCON) to 3.7 ±1.5 μm (ARTBLU), and vertical linear repositioning accuracy ranged from 7.2 ±9.6 μm (DENMAG) to 1.5 ±0.9 μm (ARTBLU). Anteroposterior angular repositioning accuracy ranged from 0.0084 ±0.0080 degrees (DENCON) to 0.0020 ±0.0006 degrees (ARTBLU), and mediolateral angular repositioning accuracy ranged from 0.0120 ±0.0111 degrees (ARTWHI) to 0.0027 ±0.0008 degrees (ARTBLU). Twisting angular repositioning accuracy ranged from 0.0419 ±0.0176 degrees (DENCON) to 0.0042 ±0.0038 degrees (ARTBLA). One-way ANOVA found significant differences (P<.05) among all systems for Iy, Ry, Lx, Ly, and twisting., Conclusions: Generally, vertical linear displacements were less likely to reach the threshold of clinical detectability compared with anteroposterior or mediolateral linear displacements. The overall repositioning accuracy of DENSCR was comparable with 4 magnetic mounting systems (DENMAG, ARTBLU, ARTWHI, ARTBLA). DENCON exhibited the worst repositioning accuracy for Iy, Ry, Lx, Ly, and twisting., (Copyright © 2014 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.)

Background: Patients with schizophrenia are characterized by high prevalence rates and chronicity that often leads to long-term institutionalization. Under the traditional medical model, treatment usually emphasizes the management of psychotic symptoms through medication, even though anti-psychotic drugs are associated with severe side effects, which can diminish patients' physical and psychological well-being. Tai-chi, a mind-body exercise rooted in Eastern health philosophy, emphasizes the motor coordination and relaxation. With these potential benefits, a randomized controlled trial (RCT) is planned to investigate the effects of Tai-chi intervention on the cognitive and motor deficits characteristic of patients with schizophrenia., Methods/design: A 3-arm RCT with waitlist control design will be used in this study. One hundred and fifty three participants will be randomized into (i) Tai-chi, (ii) exercise or (iii) waitlist control groups. Participants in both the Tai-chi and exercise groups will receive 12-weeks of specific intervention, in addition to the standard medication and care received by the waitlist control group. The exercise group will serve as a comparison, to delineate any unique benefits of Tai-chi that are independent of moderate aerobic exercise. All three groups will undergo three assessment phases: (i) at baseline, (ii) at 12 weeks (post-intervention), and (iii) at 24 weeks (maintenance). All participants will be assessed in terms of symptom management, motor coordination, memory, daily living function, and stress levels based on self-perceived responses and a physiological marker., Discussion: Based on a promising pilot study conducted prior to this RCT, subjects in the Tai-chi intervention group are expected to be protected against deterioration of motor coordination and interpersonal functioning. They are also expected to have better symptoms management and lower stress level than the other treatment groups., Trial Registration: The trail has been registered in the Clinical Trials Center of the University of Hong Kong (HKCTR-1453).

Background: The objectives of this study were to estimate the prevalence of thalassemia and to analyze the need for public health services for migrant populations in different cities in Guangdong Province, China., Methods: A cross-sectional survey was conducted in 21 cities of Guangdong Province. Twenty-three types of a- and β-globin gene mutations were detected in a total of 14,230 pregnant women and 14,249 husbands., Results: There was a 16.45% prevalence of thalassemia among the 28,479 individuals, and the prevalences of α-, β-, and combined α-/β- thalassemia were 12.03%, 3.80%, and 0.63%, respectively. Compared with the native city residents in the province, the migrants from within the province and the immigrants from outside the province had lower prevalences of thalassemia, but the prevalence values were >11%., Conclusions: The prevalence values for thalassemia gene mutations were high in all three population groups studied in Guangdong Province. The results indicate that all segments of the Guangdong population should be screened for thalassemia.

The genus Lasiochira Meyrick, 1931 is reviewed, based on the specimens collected from China, Korea, and Vietnam. Of the eight species involved in this study, six are described as new: L. flavaterminata sp. nov., L. jianfengensis sp. nov., L. jiulongshana sp. nov., L. pallidiptera sp. nov., L. rosataenia sp. nov. and L. taiwanensis sp. nov. Photographs of adults and genital structures as well as the wing venation are provided, along with a key to all the known species.

Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques. A total of 2,275 pregnant subjects was included in the study; of these, 515 subjects who had full karyotyping results were used in a retrospective analysis, and 1,760 subjects without karyotyping were analyzed in a prospective study. In the retrospective study, all 55 fetal trisomy 21 cases were identified using the SSP with a sensitivity and specificity of 99.94% and 99.46%, respectively. The SSP also detected 16 trisomy 18 cases with 100% sensitivity and 99.24% specificity and 3 trisomy 13 cases with 100% sensitivity and 100% specificity. Furthermore, 15 fetuses with sex chromosome aneuploidies (10 45,X, 2 47,XYY, 2 47,XXX, and 1 47,XXY) were detected. In the prospective study, nine fetuses with trisomy 21, three with trisomy 18, three with trisomy 13, and one with 45,X were detected. To our knowledge, this is the first large-scale clinical study to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using the SSP and provides an effective strategy for large-scale noninvasive screening for chromosomal aneuploidies in a clinical setting.

Objective: To understand the status of newly-developed advanced schistosomiasis patients in schistosome transmission-interrupted areas., Methods: The newly diagnosed advanced schistosomiasis patients confirmed by professionals at province and county levels according to the available standards were investigated. Their detailed epidemiology history and present signs/ symptoms were surveyed, and the relevant medical examinations were performed., Results: There were 75 patients including 22 males and 53 females. The average age was (70.0 +/- 7.0) years and they were all infected with schistosome previously. They received anti-schistosome therapy (mean 1.85 times) and stool examinations (mean 26.24 times) continuously from 1976 to 1985, and the results of stool examination were all negative. In majority of the patients' resident areas, the last time that Oncomelania hupensis snails were found was 1976, and the latest was 1983. During this period, no patients were up to the diagnostic criteria of advanced schistosomiasis after multiple examinations, and they were diagnosed as advanced cases between 2008 and 2011. The survey indicated that liver fibrosis was found in all the patients with 82.7% showing grad III pathological change, 90.7% of them had splenomegaly, 20.0% had ascites, and 22.7% had portal vein broadening. The mean value of enzyme indexes of liver function was 31.81 U/L (ALT), 53.19 U/L (AST) and 89.28 U/L (gamma-GT), and the positive rate was 21.3%, 49.3% and 57.3%, respectively. As for the fibrosis indexes, the positive rate of HA, LN, C VI and P III P was 73.3%, 13.3%, 17.3% and 9.3%, respectively, and the mean value of HA was 3 times higher than that of the upper limit of normal standard. Conclusions Newly-developed advanced schistosomiasis patients are those who were dignosed and cured parasitologically but progressed pathologically without any chance of re-infection. Anti-fibrosis therapy is necessary as the patients show considerable progressive liver fibrosis.

The purpose of this study was to evaluate the prognostic value of the Palliative Performance Scale (PPSv2) in the palliative care unit of our hospital, which sees more than 1500 referrals a year (both inpatient and outpatient). We evaluated 356 admission episodes into our department, focusing mainly on patients with advanced cancer. The PPS has been shown to be useful in prognostication and this study confirms this in a fairly large study population in a tertiary care, teaching hospital. We further evaluated the impact of certain biologic variables in survival length, and eventually looked at variables significant for survival at 90 days, developing a prognostic model incorporating these variables. We believe that the study results will aid health care professionals in assessing survival length of their patients more accurately, thus helping to guide decisions for treatment and care in a more judicious manner. It will also allow us to choose patients most likely to benefit from hospice resources.

What's the catch? A pyrrolysine analogue bearing a terminal alkyne and an ester functionality can be incorporated into recombinant proteins and render them amenable to capture by the click reaction and subsequent release through ester hydrolysis. The utility of this pyrrolysine-inspired technology is demonstrated for the identification of SUMOylation sites., (Copyright © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.)

The historical Oncomelania snail environments discovered since 1976 were surveyed in Changshu City, Jiangsu Province. There were 425 foci of historical snail environments that were discovered in 16 towns, the snail area was 124 893 m2. The transformation rates of historical snail environments and of the snail area were 76.71% and 86.92%, respectively. The transformation rates of the ditches, the ponds and the land were 98.17%, 97.93%, and 95.04%, respectively, but the transformation rate of river channels was only 28.23%. We still need to strengthen the environmental transformation of historical snail river channels.

Secretory carrier membrane proteins (SCAMPs) are a family of integral membrane proteins that play roles in mediating exocytosis in animal cells. However, relatively little is known about the subcellular localization, trafficking, and function of SCAMPs in plants. Several recent studies in plant cells indicate that plant SCAMPs share many similarities with their mammalian homologs although there are differences. In this review, we will first summarize and compare animal and plant SCAMPs in terms of their subcellular localization, trafficking, and possible functions. We will then present a phylogenetic analysis of plant and animal SCAMPs. Finally, we will present expression analysis on selective Arabidopsis SCAMPs in the hope of pointing to directions for functional characterization of plant SCAMPs in the future.

To investigate the effect of valproate treatment on the K562 cell line, a model for chronic myelogenous leukaemia, the growth and survival of the K562 cell line were investigated using the Annexin-V/PI dual staining method, and global profiles of gene expression and alternative splicing in K562 cells were assessed using exon microarrays. A significant increase in cell apoptosis was observed in valproate-exposed K562 cells using flow cytometry. A total of 628 transcripts were identified as being significantly differentially expressed. The number of genes demonstrating increased expression levels was greater than the number of genes demonstrating decreased expression levels (445 genes vs. 183 genes, respectively). The significant enrichment analysis of GO terms for the differentially expressed genes revealed that these genes are involved in many important biological processes such as apoptosis. Six of the genes observed to be differentially expressed that might be involved in apoptosis were selected to undergo qRT-PCR validation. In total, 198 candidates of alternative splicing variants were identified. Among them, three alternative splicing events were selected for validation, and CBLC and TBX1 were confirmed to be alternatively spliced by semi-nested PCR. In conclusion, valproate exposure facilitated cell apoptosis, altered mRNA expression and alternative splicing events in the K562 cell line.

To explore the mechanism underlying antileukaemia effect of sodium valproate, the growth and survival of the K562 cell line were investigated. Global profiles of gene expression in K562 cells exposed to sodium valproate were assessed and validated. The differentially expressed genes identified were further used to query the connectivity map database to retrieve a ranked list of compounds that act on the same intracellular targets as sodium valproate. A significant increase in cell apoptosis and a change in gene expression profile were observed in valproate-exposed K562 cells. The significant enrichment analysis of gene ontology terms for the differentially expressed genes showed that these genes were involved in many important biological processes. Eight differentially expressed genes involved in apoptosis were verified by quantitative real-time PCR. The connectivity map analysis showed gene expression profile in K562 cells exposed to sodium valproate was most similar to that of HDACi and PI3K inhibitors, suggesting that sodium valproate might exert antileukaemic action by inhibiting HDAC as well as inhibiting PI3K pathway. In conclusion, our data might provide clues to elucidate the molecular and therapeutic potential of VPA in leukaemia treatment, and the connectivity map is a useful tool for exploring the molecular mechanism of drug action.

Objective: To explore the best acupoints for the treatment of herpes zoster., Methods: Two hundred cases were randomized into an observation group and a control group, 100 cases in each one. In observation group, meridian-collateral electric information diagnosis and treatment instrument was used to detect meridian and collateral so as to find out the relevant "sick meridian open" for electric stimulation, bloodletting and cupping. In control group, Acyclovir was administered orally., Results: In observation group, it had been dectcted that "sick meridian open" were mostly localized in Ashi point (Extra), Zhangmen (LR 13), Daimai (GB 26), Qimen (LR 14), Dabao (SP 15), etc. The totally effective rate in observation group was 100.0% (100/100) that was superior to 60.0% (60/100) in control group (P < 0.000 1). Additionally, the time for pain relief, blister relief and scarring in observation group was shorter obviously than that in control group (P < 0.000 1). There was no case of post-herpetic neuralgia in observation group, but the incidence of it in control group was 26.0% (26/100)., Conclusion: Meridian-collateral diagnosis and treatment instrument detects "sick meridian open" for electric stimulation and bloodletting and cupping in the treatment of herpes zoster, which can effectively relieve pain and prevent from post-herpetic neuralgia promptly.

Background: Obtaining fetal DNA or RNA by either chorionic villus sampling (CVS) or amniocentesis is currently, the gold standard prenatal diagnosis. However, these invasive procedures carry risk of miscarriage. A reliable method for non-invasive prenatal diagnosis (NIPD) has long been sought to reduce the risk of miscarriage., Methods: Cell-free fetal RNA was extracted from the plasma of peripheral blood from 121 women 9-20 weeks of pregnancy. Five single nucleotide polymorphism (SNP) loci in PLAC4 gene were analyzed by reverse transcriptase multiplex ligation-dependent probe amplification (RT-MLPA), followed by capillary electrophoresis. Karyotype analysis was used for confirmation of prenatal diagnosis of trisomy 21., Results: Of 121 samples, 23 were diagnosed with trisomy 21, 87 with normal ploidy, nine had all five SNP loci homozygous and two had one heterozygous SNP locus. Comparing with karyotype analysis, the diagnostic sensitivity and specificity of RT-MLPA were 92% and 100%, respectively., Conclusions: RT-MLPA is a convenient and reliable method for the diagnosis of trisomy 21. We have shown that this method has good specificity, high sensitivity, and high throughput, making this technique applicable for NIPD in clinical practice.

Background: The free beta subunit of human chorionic gonadotropin (free beta-hCG) is an important serum marker for biochemical screening. Its weekly median value varies with ethnicity. Most of the fluorometers for lanthanide chelates are designed for the detection of signals from europium (Eu(3+)) chelates only., Methods: We developed a two-site, one-step assay using two monoclonal antibodies (MAbs) against free beta subunit and beta subunit with Eu(3+) chelates as labels. Using the present assay, we evaluated 24,634 normal serum samples in Chinese pregnant women during 8-20 weeks of gestation., Results: The detection limit using this assay was <0.05 ng/mL. The within-run and between-run imprecision was <6.0% and 7.0% using control material. Free beta-hCG concentrations measured using the current assay in 999 maternal serum samples correlated well with those obtained by samarium (Sm(3+))-labeled DELFIA free hCGbeta assay (r=0.987). The medians for 8-20 weeks for maternal serum free beta-hCG were higher in the women from mainland China compared to reports from other countries., Conclusions: The present assay is suitable for use in biochemical screening of women in mainland China. Our study on the median concentrations of free beta-hCG will help establish reference values that are specific for ethnic populations from the Chinese mainland. These will be useful for studying the importance of ethnic factors in biochemical screening.

Brefeldin A (BFA) is a useful tool for studying protein trafficking and identifying organelles in the plant secretory and endocytic pathways. At low concentrations (5-10 microg ml(-1)), BFA caused both the Golgi apparatus and trans-Golgi network (TGN), an early endosome (EE) equivalent in plant cells, to form visible aggregates in transgenic tobacco BY-2 cells. Here we show that these BFA-induced aggregates from the Golgi apparatus and TGN are morphologically and functionally distinct in plant cells. Confocal immunofluorescent and immunogold electron microscope (EM) studies demonstrated that BFA-induced Golgi- and TGN-derived aggregates are physically distinct from each other. In addition, the internalized endosomal marker FM4-64 co-localized with the TGN-derived aggregates but not with the Golgi aggregates. In the presence of the endocytosis inhibitor tyrphostin A23, which acts in a dose- and time-dependent manner, SCAMP1 (secretory carrier membrane protein 1) and FM4-64 are mostly excluded from the SYP61-positive BFA-induced TGN aggregates, indicating that homotypic fusion of the TGN rather than de novo endocytic trafficking is important for the formation of TGN/EE-derived BFA-induced aggregates. As the TGN also serves as an EE, continuously receiving materials from the plasma membrane, our data support the notion that the secretory Golgi organelle is distinct from the endocytic TGN/EE in terms of its response to BFA treatment in plant cells. Thus, the Golgi and TGN are probably functionally distinct organelles in plants.