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Purpose Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigated in Chinese population yet. We aim to further characterize DADA2 cases in China. Methods A retrospective analysis of patients with DADA2 identified through whole exome sequencing (WES) at seventeen rheumatology centers across China was conducted. Clinical characteristics, laboratory findings, genotype, and treatment response were analyzed. Results Thirty patients with DADA2 were enrolled between January 2015 and December 2021. Adenosine deaminase 2 enzymatic activity was low in all tested cases to confirm pathogenicity. Median age of disease presentation was 4.3 years and the median age at diagnosis was 7.8 years. All but one patient presented during childhood and two subjects died from complications of their disease. The patients most commonly presented with systemic inflammation (92.9%), vasculitis (86.7%), and hypogammaglobinemia (73.3%) while one patient presented with bone marrow failure (BMF) with variable cytopenia. Twenty-three (76.7%) patients were treated with TNF inhibitors (TNFi), while two (6.7%) underwent hematopoietic stem cell transplantation (HSCT). They all achieved clinical remission. A total of thirty-nine ADA2 causative variants were identified, six of which were novel. Conclusion To establish early diagnosis and improve clinical outcomes, genetic screening and/or testing of ADA2 enzymatic activity should be performed in patients with suspected clinical features. TNFi is considered as first line treatment for those with vascular phenotypes. HSCT may be beneficial for those with hematological disease or in those who are refractory to TNFi.

Increasing evidences showed that ovulatory dysfunction, possibly caused by luteinized unruptured follicular follicle syndrome (LUFS), is one of the reasons for endometriosis-related infertility. The present study was conducted to explore the potential effect of elevated progesterone in follicular fluid (FF) on ovulation in endometriosis. A prospective study including 50 ovarian endometriosis patients and 50 control patients with matched pairs design was conducted with alterations in FF and peritoneal fluid (PF) components identified by metabolomics analyses and differentially expressed genes in granulosa cells (GCs) identified by transcriptome analysis. Patients with endometriosis exhibited a significantly higher progesterone level in serum, FF, and PF. Granulosa cells from endometriosis patients revealed decreased expression of HPGD, COX-2, and suppressed NF-ĸB signaling. Similarly, progesterone treatment in vitro downregulated HPGD and COX2 expression and suppressed NF-ĸB signaling in granulosa tumor-like cell line KGN (Bena Culture Collection, China) and primarily cultured GCs, as manifested by decreased expressions of IL1R1, IRAK3, reduced pIĸBα/IĸBα ratio, and nucleus translocation of p65. On the contrary, TNF-α treatment increased expression of IL1R1, IRAK3, pIĸBα, p65, and HPGD in GCs. One potential p65 binding site was identified in the promoter region of HPGD by chromatin immunoprecipitation. In conclusion, we found that intrafollicular progesterone might downregulate HPGD and COX-2 in GCs via suppressing the NF-ĸB signaling pathway, shedding light on the mechanism underlying the endometriosis-related ovulatory dysfunction.

Fluorinated motifs are frequently encountered in drugs and agrochemicals. Incorporating fluorine-containing motifs in drug candidates for lead optimization in pharmaceutical research and development has emerged as a powerful tool. The construction of molecules that feature a trifluoromethyl (CF

A photoredox/nickel-catalyzed selective 1,4-arylsulfonation of 1,3-enynes to access structurally diverse sulfone-containing allenes has been established with low catalyst loading.

A synthesis of trifluoromethylated thioethers via Ni-catalyzed reductive C–S coupling has been established, exhibiting broad substrate scope and high efficiency.

Congenital anomalies of the kidney and urinary tracts (CAKUT) are the leading cause of kidney failure in children with phenotypic and genotypic heterogeneity. Our objective was to describe the genetic spectrum and identify the risk factors for kidney failure in children with CAKUT.Clinical and genetic data were derived from a multicenter network (Chinese Children Genetic Kidney Disease Database, CCGKDD) and the Chigene database. A total of 925 children with CAKUT who underwent genetic testing from 2014 to 2020 across China were studied. Data for a total of 584 children wereobtained from the CCGKDD, including longitudinal data regarding kidney function. The risk factors for kidney failure were determined by the Kaplan-Meier method and Cox proportional hazards models.A genetic diagnosis was established in 96 out of 925 (10.3%) children, including 72 (8%) with monogenic variants, 20 (2%) with copy number variants (CNVs), and 4 (0.4%)with major chromosomal anomalies. Patients with skeletal abnormalities were more likely to have large CNVs or abnormal karyotypes than monogenic variants. Eighty-two patients from the CCGKDD progressed to kidney failure at a median age of 13.0 (95% confidence interval, 12.4-13.6) years, and twenty-four were genetically diagnosed with variants of PAX2, TNXB, EYA1, HNF1B and GATA3 or the 48, XXYY karyotype. The multivariate analysis indicated that solitary kidney, posterior urethral valves, bilateral hypodysplasia, the presence of certain variants and premature birth were independent prognostic factors.The genetic spectrum of CAKUT varies among different subphenotypes. The identified factors indicate areas that require special attention.

BACKGROUND: Smoking is a risk factor for many diseases. PURPOSE: This study explored the relationship between current or past smoking and pressure injury (PI) risk through a systematic review and meta-analysis. METHODS: The databases PubMed, Web of Science, and China National Knowledge Infrastructure were searched for the years between 2001 and 2020. Quality of evidence was estimated by the Newcastle-Ottawa Scale. The random effects model was applied to assess the odds ratios (OR) and 95% confidence intervals (CI); pooled adjusted OR and 95% CI, subgroup analysis, publication bias, sensitivity analyses, and meta-regression analysis were performed. RESULTS: Fifteen (15) studies (12 retrospective and 3 prospective) comprising data on 11 304 patients were eligible for inclusion in the review. The meta-analysis demonstrated that smoking increased the risk of PI (OR = 1.498; 95% CI, 1.058-2.122), and the pooled adjusted OR (1.969) and 95% CI (1.406-2.757) confirmed this finding. Publication bias was not detected by funnel plot, Begg’s test (P = .322), or Egger’s test (P = .666). Subgroup analyses yielded the same observations in both retrospective (OR = 1.607; 95% CI, 1.043-2.475) and prospective (OR = 1.218; 95% CI, 0.735-2.017) studies. The results were consistent across sensitivity analyses (OR = 1.07; 95% CI, 1.043-2.475). Relevant heterogeneity moderators were not identified by meta-regression analysis with PI incidence (P = .466), years of patient data included (P = .637), mean patient age (P = .650), and diabetes mellitus diagnosis (P = .509). CONCLUSION: This study found that individuals who are current or formers smokers have an almost 1.5 times higher risk of PI development than do those who do not smoke.

Background Coronavirus disease 2019 (COVID-19) is causing a rapid and tragic health emergency worldwide. Because of the particularity of COVID-19, people are at a high risk of pressure injuries during the prevention and treatment process of COVID-19. Objectives This systematic review aimed to summarize the pressure injuries caused by COVID-19 and the corresponding preventive measures and treatments. Methods This systematic review was according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. PubMed, Web of science and CNKI (Chinese) were searched for studies on pressure injuries caused by COVID-19 published up to August 4, 2020. The quality of included studies was assessed by the Newcastle-Ottawa Quality Assessment Scale (NOS) and the CARE guidelines. Results The data were extracted from 16 studies involving 7,696 participants in 7 countries. All studies were published in 2020. There are two main types of pressure injuries caused by the COVID-19: 1) Pressure injuries that caused by protective equipment (masks, goggles and face shield, etc.) in the prevention process; 2) pressure injuries caused by prolonged prone position in the therapy process. Conclusions In this systematic review, the included studies showed that wearing protective equipment for a long time and long-term prone positioning with mechanical ventilation will cause pressure injuries in the oppressed area. Foam dressing may need to be prioritized in the prevention of medical device related pressure injuries. The prevention of pressure injuries should be our particular attention in the course of clinical treatment and nursing.

Monofluorinated alkyl compounds are of great importance in pharmaceuticals, agrochemicals and materials. Herein, we describe a direct nickel-catalyzed monofluoromethylation of unactivated alkyl halides using a low-cost industrial raw material, bromofluoromethane, by demonstrating a general and efficient reductive cross-coupling of two alkyl halides. Results with 1-bromo-1-fluoroalkane also demonstrate the viability of monofluoroalkylation, which further established the first example of reductive C(sp3 )-C(sp3 ) cross-coupling fluoroalkylation. These transformations demonstrate high efficiency, mild conditions, and excellent functional-group compatibility, especially for a range of pharmaceuticals and biologically active compounds. Mechanistic studies support a radical pathway. Kinetic studies reveal that the reaction is first-order dependent on catalyst and alkyl bromide whereas the generation of monofluoroalkyl radical is not involved in the rate-determining step. This strategy provides a general and efficient method for the synthesis of aliphatic fluorides.

Monofluoroalkanes are important in many pharmaceuticals, agrochemicals and functional materials. However, the lack of easily available and transformable monofluoroalkylating reagents that facilitate a broad array of transformations has hampered the application of monofluoroalkylation. Herein, we report a general and efficient method of preparing diverse aliphatic monofluorides with monofluoroalkyl triflate as the synthetic scaffold. Using both nickel-catalyzed hydromonofluoroalkylation of unactivated alkenes and copper-catalyzed C-C bond formation, the general diversification of the monofluoroalkylating scaffold has been exhibited. The broad utility of this monofluoroalkylating reagent is shown by concise conversion into various conventional fluoroalkylating reagents and construction of monofluoro-alkoxy, -alkylamino motifs with commercially available heteroatom-based coupling partners.

Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function mutations in ADA2, characterized by systemic inflammation, vasculitis, immunodeficiency, and/or hematologic abnormalities. Methods: A retrospective analysis of patients with DADA2 diagnosed by whole exome sequencing at 17 rheumatology centers across China was conducted. Clinical characteristics, laboratory findings, genotype and treatment responses were analyzed.Results Thirty patients with DADA2 were enrolled in this cohort between January 2015 and December 2021. Median age at onset was 4.3 years and the median age at diagnosis was 7.8 years. All but one patient presented during childhood and two subjects in the cohort died from DADA2-related complications. The patients presented with systemic inflammation (92.9%), vasculitis (86.7%), and hypogammaglobinemia (73.3%) while one patient with pure red cell aplasia (PRCA) and bone marrow failure (BMF) with variable cytopenia was observed in our cohort. Twenty-three (76.7%) patients received TNF inhibitors and all achieved clinical remission. Homozygous variants and compound heterozygous variants were identified in 5 and 25 patients, respective. Two patients received hematopoietic stem cell transplantation (HSCT), and both got remission. Among 39 unique variants in our cohort, six is novel.Conclusion: In order to establish the diagnosis early and prevent devastating clinical outcomes, genetic screening and/ or testing of adenosine deaminase enzymatic activity should be performed in patients with suspected clinical features. TNF inhibitors can be first line drug for patients with vasculitic DADA2. HSCT is an alternative choice for patients with refractory to TNF inhibitors or hematological disorders.

A novel method by a one-step introduction of axial chirality and sterically hindered group has been developed for facile synthesis of axially chiral styrene-type carboxylic acids. With the palladium-catalyzed C–H arylation and olefination of readily available cinnamic acid established, this transformation demonstrated excellent yield, excellent stereocontrol (up to 99% yield and 99% ee), and broad substrate scope under mild conditions. The axially chiral styrene-type carboxylic acids produced have been successfully applied to Cp*CoIII-catalyzed asymmetric C–H activation reactions, indicating their potential as chiral ligands or catalysts in asymmetric synthesis., Palladium-catalyzed asymmetric C–H functionalization to yield axially chiral styrene-type carboxylic acids is described, in which axial chirality and sterically hindered group were incorporated in one-step.

During next generation sequencing (NGS) data interpretation in critically ill newborns, there is a potential for recognizing and reporting secondary findings (SFs). Early awareness of SFs may provide clues for disease prevention. In this study, we assessed the frequency of SFs in the China Neonatal Genomes Project (CNGP) participants.A total of 2020 clinical exome sequencing (CES) datasets were screened for variants from a list of 59 genes recommended by the American College of Medical Genetics and Genomics (ACMG) for secondary findings reporting v2.0 (ACMG SF v2.0). Identified variants were classified according to the evidence-based guidelines reached by a joint consensus of the ACMG and the Association for Molecular Pathology (AMP).Among the 2020 CES datasets, we identified 23 ACMG-reportable genes in 61 individuals, resulting in an overall frequency of SFs at 3.02%. A total of 53 unique variants were identified, including 35 pathogenic and 18 likely pathogenic variants. The common disease categories of SFs associated were cardiovascular and cancer disease. The SF results affected the medical management and follow-up strategy in 49 (80.3%) patients.We presented the frequency of SFs and their impact on clinical management strategies in CNGP participants. Our study demonstrated that SFs have important practical value in disease prevention and intervention at an early stage.

Background: Luteinized unruptured follicular follicle syndrome (LUFS) is a special type of ovulatory dysfunction and a common cause of infertility. It is estimated that its prevalence is 13% ~ 73% in endometriosis patients. Increasing evidences prove that LUFS is one of the reasons for endometriosis-related infertility. Any alteration in FF components and GCs in endometriosis may influence the developing oocyte and ovulation. This study aimed to explore the effect of local elevated progesterone in follicular fluid (FF) on ovulation in endometriosis patients.Methods: A Prospective study with matched pairs design was conducted at a reproductive medicine center between July 2017 and January 2018 in patients undergoing in vitro fertilization (IVF) or intracytoplasmic sperm injection treatment (ICSI), while granulosa tumor-like cell line KGN (Bena culture collection, China) was used as in vitro cell model. Alterations in follicular and peritoneal fluid (PF) components identified with metabolomics analyses; Differentially expressed genes in GCs identified with transcriptome analysis; Polymerase chain reaction (PCR), western blot, enzyme-linked immunosorbent assay (ELISA) and immunofluorescence were used to determine the expression of progesterone, NF-кB related genes, HPGD and COX-2; NF-кB binding identified with chromatin immunoprecipitation (ChIP).Results: Patients with endometriosis exhibited a significantly higher basal serum progesterone level, higher serum level of progesterone on trigger day and higher progesterone expression level in FF and PF. GCs from endometriosis patients revealed decreased expression of HPGD, COX-2 and suppressed NF-кB signaling, as manifested by decreased expressions of IL1R1 and IRAK3. Similarly, progesterone treatment in vitro down-regulated HPGD and COX2 expression and suppressed NF-кB signaling in KGN cells in a dose dependent manner, as manifested by decreased expressions of IL1R1, IRAK3, reduced pIкBα/IкBα ratio and nucleus translocation of p65. TNF-α, by contrast, increased expression of IL1R1, IRAK3, pIкBα, p65 and HPGD in KGN cells. Furthermore, one potential p65 binding site was identified in the promoter region of HPGD by chromatin immunoprecipitation.Conclusion: Endometriosis showed repression of NF-кB pathways and down-regulation of HPGD and COX2, which play important roles in the process of ovulation by participating in the metabolism of prostaglandin E2 (PGE2), in granulosa cells (GCs) due to elevated progesterone in FF.

A nickel-catalysed direct terminal monofluoromethlyation between alkyl tosylates and a low-cost, industrial raw material bromofluoromethane has been developed. This transformation has demonstrated high efficiency, mild conditions, and good functional-group compatibility. The key to success of this transformation lies in the ligand and mild base selection, ensuring the generation of various terminal monofluormethylation products.

Monofluorinated alkyl compounds are of great importance in pharmaceuticals, agrochemicals and materials. Herein, we describe a direct nickel-catalyzed monofluoromethylation of unactivated alkyl halides using a low-cost industrial raw material, bromofluoromethane, by demonstrating a general and efficient reductive cross-coupling of two alkyl halides. Results with 1-bromo-1-fluoroalkane also demonstrate the viability of monofluoroalkylation, which further established the first example of reductive C(sp

Infantile hydrocephalus (IHC) is commonly related to other central nervous system diseases, which may have adverse effects on prognosis. The causes of IHC are heterogeneous, and the genetic etiologies are not fully understood. This study aimed to analyze the genetic etiologies of an IHC cohort.The data for 110 IHC patients who had received exome sequencing at the Clinical Genetic Center of the Children's Hospital of Fudan University between 2016 and 2019 were reviewed and analyzed retrospectively. An exome-wide association analysis (EWAS) was performed within this cohort using IHC as the study phenotype.Of the 110 IHC patients, a pathogenic or likely pathogenic variant was identified in 16 (15%) patients, spanning 13 genes. The genes were mainly associated with metabolic disorders, brain abnormalities, and genetic syndromes. IHC patients who had unclear clinical etiology were more likely to possess a genetic etiology. Based on previous studies and on our EWAS results, ZEB1, SBF2, and GNAI2 were over-represented among IHC patients and might affect the signaling pathways involved in IHC formation.Our study showed heterogeneous genetic etiologies in an IHC cohort. It is essential to perform genetic testing on IHC patients who have unclear clinical etiology, and genes associated with metabolic disorders, brain abnormalities, and genetic syndromes should be noted. In addition, when aiming to discover IHC susceptibility genes, genes that might influence the signaling pathways involved in IHC formation should be prioritized.

Background and aims The COVID-19 spreads rapidly around the world which has brought a global health crisis. The pathogen of COVID-19 is SARS-COV-2, and previous studies have proposed the relationship between ABO blood group and coronavirus. Here, we aim to delve into the association between ABO blood group and COVID-19 infection, severity and demise. Methods The relevant studies were retrieved from five databases: PubMed, MedRxiv, BioRxiv,Web of Science and CNKI. Members of cases(symptomatic cases, severe cases, died cases) and controls(asymptomatic controls, non-severe controls, alive controls) were extracted from collected studies. Odds ratios (OR) and 95% confidence intervals (CI) were calculated and interpreted from extracted data. Publication bias and sensitivity analysis were also applied to confirm our discovery. Results Overall 31,100 samples were included in the analysis. Compared to other ABO blood type, an increased odds of infecting COVID-19 among individuals with A blood group (OR: 1.249, 95%CI: 1.114–1.440, P, Highlights • A novel coronavirus, SARS-Cov-2 was emerged in December 2019 in China. • There were over 5.1 million cases of COVID-19 diagnosed and over 332,000 people had died in the whole world by May22, 2020. • The first review and a meta-analysis about relationship between ABO blood group and COVID-19 infection, severity and demise. • We found that individuals with blood type A and O have a higher and lower risk of infecting SARS-COV-2, respectively.

At present, COVID-19 is raging all over the world. Many comorbidities, such as diabetes mellitus (OR = 2.67, 95% CI = 1.91–3.74) and hypertension (OR = 2.3, 95% CI = 1.76–3.00), have been shown to worsen the patient’s condition. However, whether cardio-cerebrovascular disease will affect COVID-19 remains unclear. In this meta-analysis, we collected studies from PubMed, Wed of Science and CNKI (Chinese) to July 25, which reported COVID-19 patients with and without cardio-cerebrovascular disease as well as their severity and mortality. The random-effect model meta-analysis was used to analyze them and get overall odds ratios (OR) with 95% CIs. Funnel plots and the Begg’s and Egger’s test were used to assess publication bias. Thirty-one studies with 23,632 patients were finally included in the meta-analysis. The results showed an OR of 3.004 (95% CI = 2.097–4.303) for COVID-19 severity and an OR of 5.587 (95% CI = 2.810–11.112) for COVID-19 mortality. Compared with cardiovascular disease, the subgroup analysis indicated that cerebrovascular disease was more likely to increase the severity (OR = 3.400, 95% CI = 1.569–7.368) and mortality (OR = 23.477, 95% CI = 3.050–180.735) of COVID-19. Therefore, it can be inferred that cardio-cerebrovascular disease is associated with an increase in the risk of severe illness and death among COVID-19 patients. This meta-analysis showed that cardio-cerebrovascular disease has a significant relation with severe and death outcomes of COVID-19. Nurses should pay special attention to COVID-19 patients with the cardio-cerebrovascular disease.

The removal of acetylene from the industrial feed gas to purify the ethylene is an important and challenging issue. The adsorption-based separation is a more environmentally friendly and cost-effective method compared to the current removal approaches such as partial hydrogenation and solvent extraction, while facing the challenge of developing materials with high C2H2/C2H4 selectivity and C2H2 capacity. Herein, by expanding mixed-metal organic frameworks (M’MOFs) structure with high C2H2/C2H4 selectivity, we report a pillar-layered MOF, {[Cd5(MPCZ)2(BDC)3(NO3)2(H2O)4]·G}n (MECS-5), which not only inherits the sieving effects of M’MOF series but also develops its own characteristic—the 2D layer with expanding space and the plane pore-partition group to “cover” it. MECS-5 shows higher ideal adsorption solution theory C2H2/C2H4 selectivity than the most reported MOFs, especially more than 5 times higher than MOF-74 series while displaying great enhancement in the C2H2 capacity, more than 2 times higher comp...

A series of iminophenoxide ligand precursors [2-(RNCH)C6H4OH] (HL1: R = C6H5; HL2: R = 2,6-iPr2C6H3) and [2-(RNCH)-4,6-tBu2C6H2OH] (HL3: R = C6H5; HL4: R = 2,6-iPr2C6H3) were synthesized. These compounds reacted with NaN(SiMe3)2/15-crown-5 or KN(SiMe3)2/18-crown-6 to afford corresponding crown ether complexes of sodium and potassium iminophenoxides (1, (15-C-5)NaL2; 2, (15-C-5)NaL3; 3, (15-C-5)NaL4; 4, (18-C-6)KL1; 5, (18-C-6)KL2; 6, (18-C-6)KL3; 7, (18-C-6)KL4). Catalysis of the complexes toward the ring-opening polymerization of rac-lactide was studied. Each of the complexes exhibited high catalytic activity at room temperature. Complexes 2, 3, 6 and 7 showed poor isotactic selectivity and relatively broad molecular weight distributions. Complexes 1 and 5 resulted in more stereoregular polymers with Pm values of 0.58 and 0.66, respectively. Complex 4 led to the best selectivity for isotacticity (Pm = 0.75) when the polymerization was performed in toluene at 0 °C.

Proximal or middle lesions of the ulnar or median nerves are responsible for extensive loss of hand motor function. This occurs even when the most meticulous microsurgical techniques or nerve grafts are used. Previous studies had proposed that nerve transfer was more effective than nerve grafting for nerve repair. Our hypothesis is that transfer of the posterior interosseous nerve, which contains mainly motor fibers, to the ulnar or median nerve can innervate the intrinsic muscles of hands. The present study sought to investigate the feasibility of reconstruction of the deep branch of the ulnar nerve and the thenar branch of median nerve by transferring the extensor indicis proprius branch of the posterior interosseous nerve obtained from adult cadavers. The results suggested that the extensor indicis proprius branch of the posterior interosseous nerve had approximately similar diameters and number of fascicles and myelinated nerve fibers to those of the deep branch of ulnar nerve and the thenar branch of the median nerve. These confirm the feasibility of extensor indicis proprius branch of posterior interosseous nerve transfer for reconstruction of the deep branch of the ulnar nerve and the thenar branch of median nerve. This procedure could be a novel and effective method for the functional recovery of the intrinsic muscles of hands after ulnar nerve or median nerve injury.

A series of crown ether complexes of potassium quinolin-8-olates were synthesized and characterized. Catalysis of these complexes towards the ring-opening polymerization of rac-lactide was evaluated. The crown ether complexes of potassium quinolin-8-olate and potassium 2-methylquinolin-8-olate exhibited high catalytic activity and good molecular weight control. The 18-crown-6 complex of potassium 5-chloroquinolin-8-olate showed lower catalytic activity and poor molecular weight control; whereas the 18-crown-6 complex of potassium 5,7-dichloroquinolin-8-olate was inactive. Among the complexes, 18-crown-6 complex of potassium quinolin-8-olate showed the best selectivity of isotacticity, the Pm value achieving 0.75 when the polymerization was performed in toluene at 0 °C.

High rates of misdiagnosis and delayed intervention in neonatal PWS are leading to poor prognoses. To determine the clinical and image characteristics of newborns with Prader-Willi syndrome (PWS). A total of 102 cases of newborns definitively diagnosed with PWS at the Children's Hospital of Fudan University from 02/2014 to 12/2017 were retrospectively analyzed. We analyzed the modulated voxel-based morphology (VBM) of gray matter in PWS by T2 weighted imaging. Of 102 cases, 75 (73.5%) have paternal deletion of 15q11.2-q13, whereas 27 (26.5%) have maternal uniparental disomy (UPD). Of the 75 deletion cases, 75 (100%) week crying, 71 (94.7%) hypotonia, 70 (93.3%) poor feeding, 46 (61.3%) hypopigmentation, 43 (57.3%) male cryptorchidism, 10 (13.3%) female labia minora, 48 (64%) characteristic facial features. Of 27 UPD cases, 27 (100%) week crying and hypotonia, 25 (92.6%) hypophagia, 20 (74.1%) male cryptorchidism, 1 (3.7%) female labia minora, 19 (70.4%) characteristic facial features, 12 (44.4%) hypopigmentation. The modulated VBM analysis shows that the middle frontal gyrus, orbitofrontal cortex (middle), and inferior frontal gyrus are the most variable brain regions that determine the endo-phenotype difference between the two genotypes. Hypotonia, hypophagia, and maldevelopment of sexual organs are general characteristics of newborns with PWS in Chinese population. In UPD cases, the proportions of premature newborns, elderly parturient women and congenital malformations were higher than for paternal deletion cases. The differences in the gray matter volume of these three regions between the two genotypes may explain the differences in maladaptive behaviors and emotions.

The removal of acetylene from the industrial feed gas to purify the ethylene is an important and challenging issue. The adsorption-based separation is a more environmentally friendly and cost-effective method compared to the current removal approaches such as partial hydrogenation and solvent extraction, while facing the challenge of developing materials with high C

A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 -p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q(10) and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength. cGKD is also named as Xp21 contiguous gene syndrome. The clinical manifestations of this disease include hypertriglyceridemia, congenital adrenal hypoplasia (AHC), Duchenne muscular dystrophy, and mental retardation. This case highlights the necessity to screen the serum triglyceride and creatine kinase levels in infants with suspected adrenal insufficiency.

Gossypol (GP) is a kind of poorly water-soluble polyphenolic compounds. In this study, gossypol nanosuspensions (GP-NS) were prepared. The ability of intestinal absorption was evaluated. The result indicated that GP-NS could be absorbed in whole intestinal sections and permeated across the intestine, the process of gossypol nanosuspensions were not affected by P-gp efflux.The pharmacokinetics and tissue distribution of GP-NS after intravenous administration to mice was studied. GP-NS resulted in a higher plasma concentration and lower clearance.The tissue distribution study indicated that GP-NS showed a high uptake in reticuloendothelial system organs. In conclusion, the nanosuspensions system is a promising approach for gossypol.

To avoid traffic congestion’s becoming the obstruct of social and national economic development is the final goal that professionals in transportation field make great efforts to pursue. At the same time, with the increasing popularity of mobile phones, we can get a lot of phone base station data to identify the residents’ travelling track. Thus we can analyze the residents’ travelling behavior and get residents’ travelling patterns and mechanism. Also, residents’ travelling could be induced and guided in order that the condition of urban transport can be improved. Based on the above background, this paper is mainly based on mobile phone base station data and GIS data analysis method research on the urban transportation of residents’ travelling track.

Nestin defines a novel tendon stem/progenitor cell subpopulation with high tenogenesis potential., The repair of injured tendons remains a formidable clinical challenge because of our limited understanding of tendon stem cells and the regulation of tenogenesis. With single-cell analysis to characterize the gene expression profiles of individual cells isolated from tendon tissue, a subpopulation of nestin+ tendon stem/progenitor cells (TSPCs) was identified within the tendon cell population. Using Gene Expression Omnibus datasets and immunofluorescence assays, we found that nestin expression was activated at specific stages of tendon development. Moreover, isolated nestin+ TSPCs exhibited superior tenogenic capacity compared to nestin− TSPCs. Knockdown of nestin expression in TSPCs suppressed their clonogenic capacity and reduced their tenogenic potential significantly both in vitro and in vivo. Hence, these findings provide new insights into the identification of subpopulations of TSPCs and illustrate the crucial roles of nestin in TSPC fate decisions and phenotype maintenance, which may assist in future therapeutic strategies to treat tendon disease.

On September 21, 2009, China began administering vaccines, obtained from 10 different manufacturers, against 2009 pandemic influenza A (H1N1) virus infection in priority populations. We aimed to assess the safety of this vaccination program.We designed a plan for passive surveillance for adverse events after immunization with the influenza A (H1N1) vaccine. Physicians or vaccination providers were required to report the numbers of vaccinees and all adverse events to their local Center for Disease Control and Prevention (CDC), which then reported the data to the Chinese CDC through the online National Immunization Information System's National Adverse Event Following Immunization Surveillance System. Data were collected through March 21, 2010, and were verified and analyzed by the Chinese CDC.A total of 89.6 million doses of vaccine were administered from September 21, 2009, through March 21, 2010, and 8067 vaccinees reported having an adverse event, for a rate of 90.0 per 1 million doses. The age-specific rates of adverse events ranged from 31.4 per 1 million doses among persons 60 years of age or older to 130.6 per 1 million doses among persons 9 years of age or younger, and the manufacturer-specific rates ranged from 4.6 to 185.4 per 1 million doses. A total of 6552 of the 8067 adverse events (81.2%; rate, 73.1 per 1 million doses) were verified as vaccine reactions; 1083 of the 8067 (13.4%; rate, 12.1 per 1 million doses) were rare and more serious (vs. common, minor events), most of which (1050) were allergic reactions. Eleven cases of the Guillain-Barré syndrome were reported, for a rate of 0.1 per 1 million doses, which is lower than the background rate in China.No pattern of adverse events that would be of concern was observed after the administration of influenza A (H1N1) vaccine, nor was there evidence of an increased risk of the Guillain-Barré syndrome.

OBJECTIVE: To explore the effects of Cordyceps extract in regulating the imbalance of Th1/Th2 ratio and inhibiting the inflammatory reaction, and to find the theoretical basis of Cordyceps extract for treating asthma in remission stage. METHODS: A total of 20 peripheral venous blood samples (3 mL) were collected from 20 asthmatic children during remission stage, and peripheral blood mononuclear cells (PBMCs) were separated by Ficoll method. PBMCs were separated into three groups (blank group, low-dose group and high-dose group). The PBMCs were incubated in vitro for 48 hours in the absence (blank group) or presence (low-dose group and high-dose group) of Cordyceps extract at different concentrations (10, 20 microg/mL). The expressions of interferon-gamma (IFN-gamma), interleukin-4 (IL-4), IL-10, T-box expressed in T cells (T-bet), GATA-binding protein-3 (GATA-3) and forkhead/winged-helix transcription factor-3 (Foxp3) mRNAs in PBMCs were measured by real-time fluorescent quantitative polymerase chain reaction, and the contents of IFN-gamma, IL-4 and IL-10 in supernatants were measured by enzyme-linked immunosorbent assay. RESULTS: The expressions of IFN-gamma mRNA showed no significant differences among the three groups. The expressions of the IL-4 mRNA in the high-dose group and the low-dose group were lower than that in the blank group (P=0.014, P=0.011). The expression of IL-10 mRNA in the high-dose group was higher than that in the blank group (P=0.034). And the differences of the IFN-gamma mRNA/IL-4 mRNA ratio presented no statistic significance among the three groups. The level of IL-4 content in the high-dose group was lower than that in the blank group (P=0.018), but the level of IL-10 content, and ratio of IFN-gamma/IL-4 in the high-dose group were higher than those in the blank group (P=0.011, P=0.045). The differences of the IFN-gamma presented no statistic significance among the three groups. The T-bet/GATA-3 ratio and Foxp3 mRNA expression in the high-dose group were higher than those in the blank group (P=0.001, P=0.015). There was significant difference in expression of GATA-3 mRNA between the high-dose group and the blank group (P=0.028), and between the low-dose group and the blank group (P=0.019). The expression differences of T-bet mRNA were insignificant between any two groups. CONCLUSION: Cordyceps extract can inhibit the proliferation and differentiation of Th2 cells and reduce the expression of related cytokines by down-regulating the expression of GATA-3 mRNA and up-regulating the expression of Foxp3 mRNA in PBMCs. Meanwhile, it can alleviate the chronic allergic inflammation by increasing the content of IL-10.

In this paper, we report our recent studies on developing nonlinear techniques based on a single SOA for all-optical signal processing at high-speed, with a focus on simple configurations employing commercial SOAs for several key all-optical network applications. Our researches are based on nonlinear polarization rotation (NPR), four-wave mixing (FWM) and cross-phase modulation (XPM) effects in a single SOA. We propose and demonstrate applications of the nonlinear techniques in all-optical logic gates, multi-function format coversion, tunable Lyot birefringent filter and multi-channel optical time division multiplexed (OTDM) demultiplexing.