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1.
Wei Sheng Yan Jiu ; 48(5): 700-705, 2019 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-31601323

RESUMO

OBJECTIVE: To analysis the status and trend of energy and macronutrient intake among elderly aged 60 and older years old in nine provinces( autonomous region) of China. METHODS: The data of China Health and Nutrition Survey from 1991 to 2015 were used, which elderly ≥60 years old were selected as the subjects. The 3-consecutive day 24-hour dietary recall was used to collect information on food intake, the condiment intake was collected by weighting and bookkeeping method. Food consumption was converted into energy and various nutrient intakes by food composition table. RESULTS: The intakes of energy was 1706. 8 kcal/d, protein, fat and carbohydrates was 52. 2 g/d, 61. 4 g/d and 219. 3 g/d respectively in 2015. The percentage of energy from protein, fat and carbohydrates was 12. 3%, 33. 3% and 53. 0%respectively. Compared with 1991, the intake of energy, protein, carbohydrate decreased352. 3 kcal/d, 11. 5 g/d and 89. 8 g/d respectively. The percentage of energy from fat increased 9. 0 percentage points, carbohydrates decreased 8. 7 percentage points and protein was not changing. In 2015, the intakes of protein and carbohydrates had urbanrural differences. The elderly at the high income level had high intakes of protein and fat, the carbohydrates intake at low level. The main source of energy, protein and fat is grain, other food and edible oil respectively. CONCLUSION: The elderly of Chinese nine provinces( autonomous region) need to increase energy consumption, reduce the fat intake. We should guide rural and low-income elderly people to choose more economical and accessible food to meet their nutritional needs through food substitution. Focus on changes in blood lipids that may result from excessive intake of animal food in urban and high-income elderly people.

2.
Wei Sheng Yan Jiu ; 48(4): 526-530, 2019 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-31601352

RESUMO

OBJECTIVE: To examine nuts consumption in a sample of Chinese elderly residents. METHODS: Samples from 2015 China Nutritional Transition Cohort Study were used. A total of 5071 participants aged 60 years old and above were included in the final analysis. Three consecutive 24 h recalls were used to collect dietary consumption data. Average daily nuts intake was calculated. Then compared with recommended intake level of Dietary Guidelines for Chinese Residents(2016). Logistic regression was applied to analyze key factors affecting the consumption of nuts intake. RESULTS: The overall prevalence of nuts consumption among elderly residents in 15 provinces was 17. 8%. The P90 nuts intake was 13. 6 g/d in the whole population and 16. 7 g/d in P50 in the consuming group. There were 81. 1% of the whole population achieved the recommendation of dietary guidelines. The Logistic analysis showed that the group of young age, high education level and urban residents had more nuts consumed. CONCLUSION: Nuts consumption rate was low among Chinese elderly residents. The intake was insufficient in the whole. Age, education level and area were key factors that influenced nuts consumption of the elderly.

3.
Mol Genet Genomic Med ; : e1009, 2019 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-31637876

RESUMO

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics-associated gene, CREBBP. To date, there is no cohort study of CREBBP variants in Chinese RSTS patients. METHODS: In this study, 18 kids who meet the main criteria of RSTS were recruited. Molecular diagnoses were analyzed by clinical exome sequencing (CES), and the medical records were reviewed retrospectively. RESULTS: Nineteen novel CREBBP variants in 18 RSTS patients were identified, including two missense, four nonsense, five frameshift, one splicing variants, and seven intragenic deletions. A higher incidence (37%, 7/19) of intragenic deletions was detected. One patient who had two de novo missense variants c.[4112T > A, 4118C > A] in cis and one patient who had a de novo frameshift variant c.5837delC in homozygous state (90%) were found in this study. Compared with the previously reported populations, seven clinical features were different, including the higher incidence of polydactyly, syndactyly, microcephaly, and micrognathia, and the lower incidence of angulated thumbs, autistic behavior, and epilepsy. One patient with obesity in the first year was diagnosed with CREBBP gene exon 2 deletion, was initially suspected of Prader-Willi syndrome. CONCLUSION: We reported the genetic and clinical information of 18 RSTS patients from Chinese population with novel CREBBP variants. This study provides a new insight into RSTS and illustrates the value of applying CES which increases the diagnostic yields and enhances the clinical care of RSTS patients.

4.
5.
J Ethnopharmacol ; : 112301, 2019 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-31622746

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: Babaodan (BBD), a famous traditional Chinese medicine used in clinic, has a strong effect on eliminating jaundice, awakening and enlightening the mind. This paper assesses the preventive and therapeutic effect of BBD on hepatic encephalopathy after liver cirrhosis (CHE) and acute liver failure (AHE) in rats and explains its possible mechanism. METHODS: The establishment of CHE and AHE rat models: hepatic fibrosis and acute liver failure rat model established by injection of carbon tetrachloride (CCl4) were pretreated with BBD and then induced into hepatic encephalopathy by injection of thioacetamide (TAA). Preventive and therapeutic effect of BBD on brain dysfunction, liver injury, pathology and fibrosis were evaluated in vivo. The role of BBD in the regulation of inflammatory factors and myeloid differentiation factor 88/Toll-like receptor 4/nuclear factor kappa-B (TLR4/MyD88/NK-κ B) pathway were detected in both liver and brain in vivo. The rat BMDMs were activated by Lipopolysaccharide (LPS) and the role of BBD in regulation of inflammatory factors and NK-κ B pathway were detected in vitro. RESULTS: In CHE rat model: the total distance and activity rate of the rats with the low dose BBD (BL), high dose BBD (BH) and Lactulose (L) groups significantly improved, and the BH group improved most obviously. BBD can effectively reduce ammonia levels. The levels of alanine aminotransferase (ALT), aspartate transaminase (AST), total bilirubin (TBil) and total bile acid (TBA) in CHE rats after BBD intervention were significantly lower, and TP and Alb levels were significantly higher. In the liver, BBD not only inhibited the gene expression of tumor necrosis factor alpha (TNF-a), interleukini-6 (IL-6), TLR4, MyD88, and NF-κ B, but also inhibited the protein expression of TLR4, MyD88, NK-κ B and TNF-a. In the brain, BBD inhibited the gene expression of iNOS, IL-6, TNF-a, TLR-4, M yD88, and NF-κ B, as well as inhibited the protein expression of TLR4, MyD88, P65 TNF-α and ionized calcium binding adapter molecule 1 (Iba-1). In the blood, NO and TNF-α were also improved by BBD. In AHE rats model: BBD improved neurological score and blood ammonia and inhibited brain inflammatory gene expression of iNOS, TNF-α and IL-1ß. BBD also improved liver function markers such as ALT, AST, TBiL, TBA, TP, Alb and inhibited inflammatory and apoptotic gene expression of genes such as TNF-α, IL-1ß, IL-6, Bax, Bcl-2, caspase-9, caspase-3 and NF-κ B. In LPS-activated rat bone marrow-derived macrophages (BMDM), BBD decreased NO and TNF-α production in BMDM culture supernatant. In addition, BBD inhibited the gene expression of TNF-α, IL-1 ß and IL-6 as well as the phosphorylation of P65. CONCLUSION: BBD could prevent and cure hepatic encephalopathy derived from both chronic and acute liver diseases. Here, we found that except for the direct improvement of blood and brain ammonia level, inflammation is likely an important target of BBD to treat hepatic encephalopathy. The anti-inflammatory role of BBD may lie in its regulation of the TLR4/MyD88/NF-κ B pathways.

6.
Theranostics ; 9(23): 7051-7071, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31660086

RESUMO

Rationale: Repeated methamphetamine (METH) exposure induces long-term cognitive deficits and pathological drug-associated memory that can be disrupted by manipulating memory reconsolidation and extinction. The nucleus accumbens (NAc) is the key region of the brain reward system and predominantly consists of two subtypes of medium spiny neurons (MSNs) based on the expression of D1 or D2 dopamine receptors (D1-MSNs or D2-MSNs). Spine structural plasticity in the NAc is critical for the acquisition, reconsolidation and extinction of drug-associated memory. However, the molecular mechanisms underlying METH-associated memory and spine remodelling in each type of MSNs in the NAc remain unknown. Here, we explored whether Rac1 in the NAc mediates METH-associated contextual memory and spine remodelling. Methods: Pharmacological and genetic manipulations of Rac1 were used to investigate its role during the acquisition, reconsolidation and extinction of METH-associated contextual memory. Recombinant adeno-associated viruses expressing mCherry under the control of the dopamine D1 receptor gene promoter (Drd1-mCherry) or dopamine D2 receptor gene promoter (Drd2-mCherry) were used to specifically label D1-MSNs or D2-MSNs. Results: Using viral-mediated gene transfer, we demonstrated that decreased Rac1 activity was required for the acquisition of METH-associated contextual memory and the METH-induced increase in thin spine density, whereas increased Rac1 signalling was important for the extinction of METH-associated contextual memory and the related elimination of thin spines. Moreover, the increase of dendritic spines was both found in D1-MSNs and D2-MSNs during the acquisition process, but extinction training selectively decreased the spine density in D1-MSNs. Interestingly, Rac1 was responsible for METH-induced spine plasticity in D1-MSNs but not in D2-MSNs. Additionally, we found that microinjection of a Rac1 inhibitor or activator into the NAc was not sufficient to disrupt reconsolidation, and the pharmacological activation of Rac1 in the NAc facilitated the extinction of METH-associated contextual memory. Regarding cognitive memory, decreased Rac1 activity improved the METH-induced impairment in object recognition memory. Conclusion: Our findings indicate that Rac1 plays opposing roles in the acquisition and extinction of METH-associated contextual memory and reveal the cell-specific role of Rac1 in METH-associated spine remodelling, suggesting that Rac1 is a potential therapeutic target for reducing relapse in METH addiction and remediating METH-induced recognition memory impairment.

7.
J Med Genet ; 2019 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-31501239

RESUMO

BACKGROUND: Congenital anomalies are the leading cause of early neonatal death in neonatal intensive care units (NICUs), but the genetic causes are unclear. This study aims to investigate the genetic causes of infant deaths in a NICU in China. METHODS: Newborns who died in the hospital or died within 1 week of discharge were enrolled from Children's Hospital of Fudan University between January 1, 2015 and December 31, 2017. Whole exome sequencing was performed in all patients after death. RESULTS: There were 223 deceased newborns with a median age at death of 13 days. In total, 44 (19.7%) infants were identified with a genetic finding, including 40 with single nucleotide variants (SNVs), two with CNVs and two with both SNVs and CNVs. Thirteen (31%, 13/42) patients with SNVs had medically actionable disorders based on genetic diagnosis, which included 10 genes. Multiple congenital malformation was identified as the leading genetic cause of death in NICUs with 13 newborns identified with variants in genes related to multiple congenital malformations. For newborns who died on the first day, the most common genetic cause of death was major heart defects, while metabolic disorders and respiratory failure were more common for newborns who died in the first 2 weeks. CONCLUSION: Our study shows genetic findings among early infant deaths in NICUs and provides critical genetic information for precise genetic counselling for the families. Effective therapies enable the improvement of more than a quarter of newborns with molecular diagnoses if diagnosed in time.

9.
Nat Commun ; 10(1): 4193, 2019 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-31519901

RESUMO

Nonlinear beam shaping refers to spatial reconfiguration of a light beam at a new frequency, which can be achieved by using nonlinear photonic crystals (NPCs). Direct nonlinear beam shaping has been achieved to convert second-harmonic waves into focusing spots, vortex beams, and diffraction-free beams. However, previous nonlinear beam shaping configurations in one-dimensional and two-dimensional (2D) NPCs generally suffer from low efficiency because of unfulfilled phase-matching condition. Here, we present efficient generations of second-harmonic vortex and Hermite-Gaussian beams in the recently-developed three-dimensional (3D) lithium niobate NPCs fabricated by using a femtosecond-laser-engineering technique. Since 3D χ(2) modulations can be designed to simultaneously fulfill the requirements of nonlinear wave-front shaping and quasi-phase-matching, the conversion efficiency is enhanced up to two orders of magnitude in a tens-of-microns-long 3D NPC in comparison to the 2D case. Efficient nonlinear beam shaping paves a way for its applications in optical communication, super-resolution imaging, high-dimensional entangled source, etc.

10.
Curr Neurovasc Res ; 2019 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-31490755

RESUMO

PURPOSE: Research has shown that exposure to anesthesia might increase the risks of cognitive impairments and learning difficulties. MiR-125b-5p contributed to anesthesia-induced hippocampal apoptosis. However, the role of miR-125b-5p in sevoflurane-induced cognitive impairments remains unclear. METHODS: Firstly, the sevoflurane was used to establish a rat model and the cognitive impairment was detected by the Morris water maze (MWM) test. The hippocampus was observed by HE staining. The lentivirus-miR-125b-5p antagomiR was transfected into rats to decrease the miR-125b-5p. The interaction between miR-125b-5p and LIM domain kinase 1 (LIMK1) was confirmed by luciferase reporter assay. The mRNA and expression levels of related genes and mRNA were examined by Quantitative Reverse Transcription-Polymerase Chain Reaction (qRT-PCR) and western blot. RESULT: The sevoflurane induced the cognitive dysfunction presenting with longer latency time and less platform crossings in rats. Moreover, the miR-125b-5p was observed to up-regulate in both sevoflurane-anesthesia rats and sevoflurane-treated SH-SY5Y cells. More importantly, the decreasing of miR-125b-5p could rescue the sevoflurane-induced hippocampal apoptosis and inflammation in rats. Moreover, the LIMK1 was the target gene of miR-125b-5p. Interestingly, the si-LIMK1 could restore the sevoflurane-induced cell apoptosis in SH-SY5Y cells, which was alleviated by miR-125b-5p inhibitor. Finally, the miR-125b-5p inhibitor shortened time to find the platform and increased numbers of platform crossings compared to sevoflurane-anesthesia rats in Morris water maze test. At the same time, the expression of LIMK1 was dramatically increased. CONCLUSION: Altogether, these findings suggested that miR-125b-5p inhibitor could protect against the sevoflurane-induced cognitive impairments by targeting to LIMK1.

11.
Forensic Sci Int ; 303: 109937, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31546162

RESUMO

The detection of vitality of wounds, especially when the wounds are inflicted very close to the time of death, is one of the most challenging issues in forensic pathology. This study investigated expression levels of ATF3 and BTG2 in mouse and human skin wounds. Protein levels examined by western blot showed that there was no significant change in ATF3 and BTG2 between wounded and intact skins. However, mRNA levels demonstrated higher expression of ATF3 and BTG2 in ante-mortem contused mouse skins, compared with the intact and postmortem contused skins. Increased ATF3 and BTG2 in the level of mRNA could also be detected until 96h and 48h after death, respectively. Human wounded skin samples from forensic autopsy cases were also examined. Increased ATF3 mRNA levels were detected until 48h after autopsy in 5 of 6 cases. However, no differences were observed between wounded and intact skins for BTG2. These findings suggest that the detection of mRNA levels of ATF3, but not BTG2, can be considered as a potential marker for vital reaction of skin contusion. Postmortem human samples should be used in order to validate the availability of markers screened by animal experiment.

12.
Asia Pac J Clin Nutr ; 28(3): 520-532, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31464398

RESUMO

BACKGROUND AND OBJECTIVES: It is well known that dietary factors affect the development of cardiovascular disease. We evaluated the associations between carbohydrate intake and cardiovascular disease risk factors using data from the China Health and Nutrition Survey, 2009. METHODS AND STUDY DESIGN: A total of 6,648 Chinese adults aged 18-60 were divided into five groups based on carbohydrate intake (% of energy). Mixed-effect linear regression models were used to estimate the risk factors in relation to carbohydrate intake, and mixed-effect logistic regression models were used to assess the risk of cardiovascular disease. RESULTS: When age was adjusted, carbohydrate intake was negatively correlated with total cholesterol and triglycerides in men and total cholesterol and low-density lipoprotein cholesterol in women. However, there were positive associations of carbohydrate intake with waist circumference, body mass index, and blood pressure in women. After additional adjustment for urbanicity index, income, physical activity, education, alcohol and smoking, and dietary intake, the 5th quintile of carbohydrate intake reduced the risk for high low-density lipoprotein cholesterol in women (OR=0.73, 95% CI: 0.53, 0.99) compared with the 1st quintile. However, the top quintile of carbohydrate intake increased the risk for impaired glucose tolerance in men (OR=2.08, 95% CI: 1.04, 4.16) compared with the lowest quintile after adjusting for all confounders. CONCLUSIONS: Higher-carbohydrate diets may associate with risk factors for cardiovascular disease. Moderate carbohydrate intake is recommended for daily consumption. These results suggest that improving dietary patterns may be an important approach to the prevention of cardiovascular disease in Chinese adults.

13.
Pharm Biol ; 57(1): 424-431, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31407933

RESUMO

Context: Icaritin (ICT), a prenylflavonoid derivative extracted from the Epimedium (Berberidaceae) genus, has been identified to exhibit antitumor effect in hepatocellular carcinoma (HCC) cells by inducing apoptosis. However, its effect on cellular senescence has not been elucidated. Objective: To investigate the mechanism for low concentrations of ICT exerting antitumor activity through induction of cellular senescence. Materials and methods: Human HepG2 and Huh7 cells were treated with low concentrations of ICT (1 and 2 µM) once per day for a week. Cellular senescence was evaluated through cell viability and senescence-associated-ß-galactosidase activity. Cell cycle distribution and ROS levels were measured with flow cytometry. Gene expression was detected using qRT-PCR and western blotting. Fluorescent punctuates formation of γH2AX was analyzed by immunofluorescence. Results: ICT (1 and 2 µM) promoted cellular senescence in HepG2 and Huh7 cells, as observed by enlarged and flattened morphology and increased senescence-associated-ß-galactosidase activity (∼7-8-fold and ∼11-12-fold of vehicle controls, respectively), accompanied by significant cell cycle arrest and decrease in DNA synthesis. Mechanistically, ICT-induced senescence occurred through accumulation of ROS (∼1.3-fold and ∼1.8-fold of vehicle controls in response to 1 and 2 µM ICT, respectively), which further resulted in DNA damage response, as evidenced by strong induction of γH2AX through immunofluorescence and western blotting assays. Pharmacological inhibition of ROS production with N-acetylcysteine attenuated ICT-induced γH2AX and senescence-associated-ß-galactosidase activity (∼0.28-0.30-fold decrease, p < 0.05). Discussion and conclusions: Induction of cellular senescence by ICT defines a novel anticancer mechanism of ICT and provides a rationale for generalizing the study design to a broader study population to further developing ICT as a novel therapeutic agent for treatment of HCC.

14.
Shanghai Kou Qiang Yi Xue ; 28(2): 128-132, 2019.
Artigo em Chinês | MEDLINE | ID: mdl-31384895

RESUMO

PURPOSE: To investigate the effect of lipopolysaccharides(LPS) extracted from Porphyromonas endodontalis(P.e) on the expression of macrophage inflammatory protein-2 (MIP-2) mRNA and protein levels in MC3T3-E1 cells and the influence of resveratrol on the expression of MIP-2 protein in P.e-LPS induced cells. METHODS: MC3T3-E1 cells were treated with different concentrations of P.e-LPS(0-50 mg/L) and 20 mg/L P.e-LPS for different time (0-48 h). The expression of MIP-2 mRNA and protein was detected by real-time RT-PCR and enzyme linked immunosorbent assay (ELISA). MC3T3-E1 cells were pretreated with resveratrol for 1 h in the presence of 20 mg/L P.e-LPS for 24 h,which was detected by ELISA. Statistical analysis was performed using one-way ANOVA and Dunnett t test with SPSS 13.0 software package. RESULTS: Treatment of MC3T3-El cells with different concentrations of P.e-LPS(0-50 mg/L) caused a significantly increase in MIP-2 mRNA and protein expression in dose-dependent manners.The expression of MIP-2 protein increased from (41.86±2.49) ng/L to (3126.74±158.30) ng/L, and the difference was significant(P<0.05). In the observation time (0-48 h), the impact of 20 mg/L P.e-LPS on induction of MIP-2 in MC3T3-El cells exhibited a time-dependent manner. At 48 h, the maximal induction of MIP-2 protein expression was (2102.55±123.27) ng/L(P<0.01). Incubation of cells with 10 µmol/L resveratrol for 1h significantly decreased the expression of MIP-2 protein from (1805.33±67.54) ng/L to(813.82±47.21) ng/L, and the difference was significant(P<0.05). CONCLUSIONS: The results suggest that P.e-LPS may mediate MIP-2 expression in MC3T3-E1 cells, and resveratrol has a significant inhibitory effect on this process.


Assuntos
Quimiocina CXCL2 , Lipopolissacarídeos , Osteoblastos , Resveratrol , Animais , Quimiocina CXCL2/efeitos dos fármacos , Quimiocina CXCL2/metabolismo , Camundongos , Osteoblastos/efeitos dos fármacos , Osteoblastos/metabolismo , Porphyromonas endodontalis , RNA Mensageiro/efeitos dos fármacos , RNA Mensageiro/metabolismo , Resveratrol/farmacologia
15.
Nat Commun ; 10(1): 3076, 2019 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-31300651

RESUMO

How the substantial climate shifts of the Cenozoic era shaped the geographical distribution of tropical cyclone genesis remains unknown. Through a set of coupled model simulations, we demonstrate that conditions during the warmer Early Eocene are more favorable for storm formation over the Southern Hemisphere, particularly the South Indian Ocean. As the climate cools, there is an increasing favorability for genesis in the Northern Hemisphere and a coincident decrease in the Southern Hemisphere over time, with the locations most conducive to storms migrating equatorward in both hemispheres. A shift in the most favorable conditions to the western North Pacific likely occurs during the Pliocene, largely due to the closure of the tropical seaways, and marks the final establishment of modern tropical cyclone distribution. The substantial variations of genesis regions in the Cenozoic may affect upper-ocean vertical mixing and hence tropical/global climate, but are missed in most current deep-time simulations.

16.
Taiwan J Obstet Gynecol ; 58(4): 501-504, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31307741

RESUMO

OBJECTIVE: This study aims to evaluate the value of the ultrasound-related scoring system on pregnant patients receiving assisted reproductive technology (IVF/ICSI) and early pregnancy outcome. MATERIALS AND METHODS: This prospective study included 208 pregnant women receiving assisted reproductive technology (IVF/ICSI). The following ultrasound parameters were measured: gestational sac size, the proportion of the embryo and gestational sac (embryo/gestational sac), yolk sac size, and fetal cardiac activity. The above data were assigned according to the ongoing pregnancy rate (up to 14 weeks), and the score increased parallel to the pregnancy rate. All patients were grouped according to their scores. RESULTS: Patients with a score of 4-5 had a low ongoing pregnancy rate of 14.29%, while patients with a score of 6-7 had an ongoing pregnancy rate of 55.56%. Surprisingly, patients with a score of 8-9 had an ongoing pregnancy rate of 97.22%. In addition, it was found that the ongoing pregnancy rate was 100% (36/36) in patients with a score of 9. Conversely, there was no ongoing pregnancy in patients with a score of 4. CONCLUSION: First, this scoring system is strongly associated with an ongoing pregnancy of over 14 weeks. Second, some reassurance can be given to patients with favorable ultrasound parameters, regardless of maternal age or previous pregnancy loss. Third, it would be meaningless to continue the pregnancy in patients with a score of 4, according to the scoring system. Fourth, patients without cardiac activity and embryos at days 33-35 after embryo transfer should discontinue the pregnancy, while patients with embryos should proceed with the pregnancy.

17.
Anal Chem ; 91(15): 10258-10265, 2019 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-31282145

RESUMO

DNA amplification strategy has been a valuable tool for improving the sensitivity of biosensors. However, the freely diffusing reactants in most DNA amplification strategies limit the rate of DNA reaction, which further affects the amplification efficiency with unsatisfactory sensitivity. In the present work, a novel localized DNA cascade reaction (LDCR) in a DNA nanomachine was designed for high-efficiency target conversion to construct an electrochemiluminescence (ECL) biosensor for ultrasensitive microRNA-21 detection. The DNA nanomachine was constructed by using three-footholds DNA scaffold to immobilize two metastable hairpins and reporter probe and confine them in a localized space. In the presence of microRNA-21, it initiated the LDCR and produced large amounts of mimic target (ferrocene labeled DNA, Fc-DNA) due to the locality effect. Thus, sensitive detection of microRNA-21 could be realized since Fc could effectively quench the ECL intensity of graphitic carbon nitride nanosheets (CNNS) due to the energy and electron transfer from the excited state of CNNS to oxidized species of Fc. Moreover, compared with the other two developed DNA cascade reactions with freely diffusing reactants, the proposed LDCR benefits by shortening the reaction time and improving the amplification efficiency with enhanced sensitivity of the biosensor. Therefore, the proposed LDCR could be used as a highly efficient amplification strategy for ultrasensitive determination of biomarkers with low abundance, which may promote the diagnostic efficiency of disease.

18.
Mol Biol Rep ; 46(5): 4717-4724, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31270759

RESUMO

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.

19.
Clin Genet ; 96(5): 402-410, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31328266

RESUMO

To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease. Of the 106 distinct monogenetic disorders detected, 15 accounted for 60.7% of genetic diagnoses. The diagnostic yield was 29.1% in steroid resistant nephritic syndrome (SRNS), 61.4% in cystic renal disease, 17.0% in congenital anomalies of the kidney and urinary tract (CAKUT), 62.3% in renal tubular disease/renal calcinosis, and 23.9% for chronic kidney disease (CKD) 3 to 5 stage with unknown origin. Genetic approaches of target gene sequence (TGS), singleton whole-exome sequencing (WES) and trio-WES were performed with diagnostic rates of 44.8%, 36.2%, and 42.6%, respectively. The early use of trio-WES could improve the diagnostic rate especially in renal tubular disease and calcinosis. We report the genetic spectrum of Chinese children with renal disease. Establishment of the CCGKDD will improve the genetic work on renal disease.

20.
J Am Heart Assoc ; 8(12): e011368, 2019 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-31165668

RESUMO

Background China faces a substantial burden from cardiometabolic diseases, but longitudinal studies on a wide range of cardiometabolic risk factors are limited. We examined the 6-year incidence of 8 cardiometabolic risk factors in a diverse, population-based cohort. Methods and Results In the China Health and Nutrition Survey, anthropometry, blood pressure, and fasting blood samples were collected from 9621 adults (47.6% men) aged 18 to 99 years in 2009 who were followed into 2015. Using inverse probability weights to account for loss to follow-up, we estimated the 6-year incidence of 8 cardiometabolic risk factors and compared the incidence of each risk factor across age groups using inverse probability-weighted sex-stratified logistic regression models. Incidence was noted for the following cardiometabolic risk factors during 2009-2015: hypertension (systolic/diastolic blood pressure ≥140/90 mm Hg; men: 29.2%; women: 24.9%), high waist circumference/height ratio (≥0.5; men: 42.4%; women: 43.8%), and high total to HDL (high-density lipoprotein) cholesterol ratio (≥5; men: 17.0%; women: 14.5%). Older men and women (aged ≥65 years) had the highest incidence of hypertension. Incidence of high waist circumference/height ratio and high LDL (low-density lipoprotein) cholesterol (≥130 mg/ dL ) was highest among older (aged ≥65 years) women, whereas incidence of overweight (body mass index ≥25) and high triglycerides (≥150 mg/ dL ) was highest among younger (aged 18-35 and 35-50 years) men. Conclusions We found increases in cardiometabolic risk among Chinese adults during this recent, short, 6-year period that are higher than previous studies in China. The higher incidence of overweight and elevated dyslipidemia markers in younger versus older men portends an increasing burden of cardiometabolic diseases in China as the younger population ages.

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