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1.
Inorg Chem ; 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38575504

RESUMO

Low-dimensional organic-inorganic hybrid perovskites (OIHPs) have shown significant potential in the optoelectronic field due to their adjustable structure and properties. However, the poor air stability and flexibility of the OIHP crystals limit their further development. Herein, three OIHP crystals have been synthesized using cadmium chloride and the isomer of phenylenediamine as raw materials. Mn2+ doping turns on the red-light emission of Cd-based OIHPs at around 625 nm. Interestingly, the organic ligands with different steric hindrance can induce a transition of the OIHP structure from two dimensions (2D) to one dimension (1D), thereby regulating the quantum yield of red luminescence in the range of 38.4% to nearly 100%. It is found that the surface-exposed amino groups are easy to oxidize, resulting in the instability of these OIHP crystals. Therefore, poly(lactic acid) (PLA) is selected to passivate OIHPs through hydrogen bonding between C═O of PLA and -NH2 on the surface of OIHPs. As a result, the production of OIHP-based flexible films with highly efficient and stable red emission can be obtained after being encapsulated by PLA. They demonstrate enormous application potential in flexible X-ray imaging. This study not only realizes stable perovskite films but also provides an effective design idea for red flexible scintillators.

2.
Heliyon ; 10(6): e27946, 2024 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-38496842

RESUMO

Background: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To date, 39 patients from 17 families with CC2D1A -related disorders have been reported worldwide, in whom only six pathogenic or likely pathogenic loss-of-function variants and three variants of uncertain significance (VUS) in the CC2D1A gene have been identified in these patients. Methods: We described a patient with ID from a non-consanguineous Chinese family and whole-exome sequencing (WES) was used to identify the causative gene. Results: The patient presented with severe ID and ASD, speech impairment, motor delay, hypotonia, slight facial anomalies, and finger deformities. Threatened abortion and abnormal fetal movements occurred during pregnancy with the proband but not his older healthy sister. WES analysis identified a homozygous nonsense variant, c.736C > T (p.Gln246Ter), in the CC2D1A gene. In addition, six novel likely pathogenic CC2D1A variants were identified by a retrospective review of the in-house database. Conclusions: This study expands the genetic and clinical spectra of CC2D1A-associated disorders, and may aid in increasing awareness of this rare condition. Our findings have provided new insights into the clinical heterogeneity of the disease and further phenotype-genotype correlation, which could help to offer scope for more accurate genetic testing and counseling to affected families.

3.
BMC Genomics ; 25(1): 183, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38365611

RESUMO

BACKGROUND: Ovarian cancer (OC) has the worst prognosis among gynecological malignancies, most of which are found to be in advanced stage. Cell reduction surgery based on platinum-based chemotherapy is the current standard of treatment for OC, but patients are prone to relapse and develop drug resistance. The objective of this study was to identify a specific molecular target responsible for platinum chemotherapy resistance in OC. RESULTS: We screened the protein-coding gene Caldesmon (CALD1), expressed in cisplatin-resistant OC cells in vitro. The prognostic value of CALD1 was evaluated using survival curve analysis in OC patients treated with platinum therapy. The diagnostic value of CALD1 was verified by drawing a Receiver Operating Characteristic (ROC) curve using clinical samples from OC patients. This study analyzed data from various databases including Gene Expression Omnibus (GEO), Human Protein Atlas (HPA), The Cancer Cell Line Encyclopedia (CCLE), The Cancer Genome Atlas (TCGA), GEPIA 2, UALCAN, Kaplan-Meier (KM) plotter, LinkedOmics database, and String. Different expression genes (DEGs) between cisplatin-sensitive and cisplatin-resistant cells were acquired respectively from 5 different datasets of GEO. CALD1 was selected as a common gene from 5 groups DEGs. Online data analysis of HPA and CCLE showed that CALD1 was highly expressed in both normal ovarian tissue and OC. In TCGA database, high expression of CALD1 was associated with disease stage and venous invasion in OC. Patients with high CALD1 expression levels had a worse prognosis under platinum drug intervention, according to Kaplan-Meier (KM) plotter analysis. Analysis of clinical sample data from GEO showed that CALD1 had superior diagnostic value in distinguishing patients with platinum "resistant" and platinum "sensitive" (AUC = 0.816), as well as patients with worse progression-free survival (AUC = 0.741), and those with primary and omental metastases (AUC = 0.811) in ovarian tumor. At last, CYR61 was identified as a potential predictive molecule that may play an important role alongside CALD1 in the development of platinum resistance in OC. CONCLUSIONS: CALD1, as a member of cytoskeletal protein, was associated with poor prognosis of platinum resistance in OC, and could be used as a target protein for mechanism study of platinum resistance in OC.


Assuntos
Cisplatino , Neoplasias Ovarianas , Feminino , Humanos , Proteínas de Ligação a Calmodulina/genética , Proteínas de Ligação a Calmodulina/metabolismo , Cisplatino/farmacologia , Cisplatino/uso terapêutico , Resistencia a Medicamentos Antineoplásicos/genética , Recidiva Local de Neoplasia , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Platina/farmacologia , Platina/uso terapêutico , Prognóstico , Regulação para Cima
4.
BMC Geriatr ; 24(1): 147, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38350861

RESUMO

BACKGROUND: The relationship of testosterone and estradiol concentrations with cognitive function among community-dwelling older men was inconclusive. To examine the association of serum testosterone and estradiol concentrations with cognitive function in older men with or without vascular risk factors (VRFs). METHODS: This cross-sectional study consisted of 224 community-dwelling men aged 65-90 years in the Songjiang District of Shanghai, China. Serum testosterone and estradiol were measured by electrochemiluminescence immunoassay. The following five factors were defined as VRFs in this study: obesity, history of hypertension, diabetes, stroke, and coronary heart disease. Multivariable linear regression was used to examine the association of testosterone and estradiol with the Mini-Mental State Examination (MMSE) in participants with or without VRF. Restricted cubic spline (RCS) regression was performed to account for the nonlinearity of these associations. RESULTS: An inverted "U" shaped non-linear relationship was found between testosterone concentration and MMSE score in men with one VRF (P overall =.003, non-linear P =.002). Estradiol showed an inverted "U" shaped non-linear relationship with MMSE score independent of VRFs (men without VRF, P overall =.049, non-linear P =.015; men with one VRF, overall P =.007, non-linear P =.003; men with two or more VRFs, overall P =.009, non-linear P =.005). CONCLUSION: In older men, an optimal level of sex steroid concentration may be beneficial to cognitive function and the VRFs should be considered when interpreting the relationship between sex steroid and cognitive function.


Assuntos
Cognição , Estradiol , Hormônios Esteroides Gonadais , Idoso , Humanos , Masculino , China/epidemiologia , Estudos Transversais , Estradiol/sangue , Hormônios Esteroides Gonadais/sangue , Vida Independente , Fatores de Risco , Testosterona
5.
Mol Genet Genomic Med ; 12(1): e2358, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38284444

RESUMO

BACKGROUND: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that is associated with typical clinical and imaging features. The syndrome is caused by pathogenic variants in the MAST1 gene, which encodes a microtubule-associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system. METHODS: Fetal DNA from umbilical cord blood samples and genomic DNA from peripheral blood lymphocytes were subjected to whole-exome sequencing. The potential causative variants were verified by Sanger sequencing. RESULTS: A 26-year-old primigravid woman was referred to our prenatal center at 25 weeks of gestation due to abnormal ultrasound findings in the brain of the fetus. The brain abnormalities included wide cavum septum pellucidum, shallow and incomplete bilateral lateral fissure cistern, bilateral dilated lateral ventricles, hyperplastic corpus callosum, lissencephaly, and cortical dysplasia. No obvious abnormalities were observed in the brainstem or cerebellum hemispheres, but the cerebellum vermis was small. Whole-exome sequencing identified a de novo, heterozygous missense variant, c.695T>C(p.Leu232Pro), in the MAST1 gene and a genetic diagnosis of mega-corpus-callosum syndrome was considered. CONCLUSION: This study is the first prenatal case of MAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of the MAST1 gene.


Assuntos
Vermis Cerebelar , Leucoencefalopatias , Malformações do Desenvolvimento Cortical , Malformações do Sistema Nervoso , Gravidez , Feminino , Humanos , Adulto , Vermis Cerebelar/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/anormalidades , Malformações do Desenvolvimento Cortical/genética , Feto/anormalidades , DNA , Deficiências do Desenvolvimento
6.
J Sep Sci ; 47(1): e2300751, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38234032

RESUMO

Gancao Xiexin Decoction (GCXXD) is a traditional Chinese decoction that is often used in treating gastric ulcers. However, the substance basis and mechanism of action remain unclear. In this study, in vivo and in vitro components of GCXXD were analyzed by ultra-high-performance liquid chromatography coupled with quadrupole-orbitrap mass spectrometry. The compound Discover platform was used to ultimately enable rapid identification of compounds. Acquire X intelligent data acquisition technology software was innovatively adopted. In the process of collecting drug-containing plasma, all components detected in blank plasma samples were excluded to eliminate the interference and influence of endogenous components in plasma, making the analysis results more accurate and reliable. At the same time, the possibility of selecting precursor parent ions with low concentration levels within the chromatographic peak can be increased, improving the coverage and integrality of the detection of components in vivo. Also, the targeted network pharmacology strategy combined with molecular docking was established to explore the mechanism of GCXXD in treating gastric ulcers. As a result, 113 components were identified, 41 of which could enter the bloodstream and exert therapeutic effects in vivo. The main effective components are glycyrrhizic acid, 6-gingerol, jatrorrhizine, wogonin, palmatine, and liquiritigenin, main targets in vivo were related to ALB, IL6, and VEGF, which play an important role in anti-inflammatory and promoting angiogenesis. In summary, this study adopted a comprehensive analysis strategy to reveal the pharmacodynamic material basis and mechanism of GCXXD against gastric ulcers, providing a scientific basis for its clinical application.


Assuntos
Medicamentos de Ervas Chinesas , Glycyrrhiza , Úlcera Gástrica , Humanos , Cromatografia Líquida de Alta Pressão/métodos , Simulação de Acoplamento Molecular , Farmacologia em Rede , Úlcera Gástrica/tratamento farmacológico , Espectrometria de Massas/métodos , Medicamentos de Ervas Chinesas/farmacologia , Medicamentos de Ervas Chinesas/uso terapêutico , Medicamentos de Ervas Chinesas/química
7.
Gene ; 898: 148120, 2024 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-38163626

RESUMO

Dunaliella parva can extensively accumulate carotenoids, which is a promising raw material for carotenoids production. Carotenoids have important medicinal value. D. parva is an ideal organism for studying the mechanism of carotenoid synthesis. Our previous study identified a transcription factor DpAP2 which could regulate carotenoid synthesis in D. parva. In addition, DpAP2 could interact with three proteins with different activities (DNA binding transcription factor activity, protein kinase activity, and alpha-D-phosphohexomutase). To investigate the function of PK gene encoding interacting protein of DpAP2 with protein kinase activity in D. parva, PK gene was cloned into vector pBI221-GFP-UbiΩ-CAT and transformed into D. parva in this study. The results showed that overexpression of PK gene enhanced the contents of carotenoids, total sugars, proteins, and antioxidant activities of carotenoid extract such as superoxide radical scavenging activity, reducing power, hydroxyl radical scavenging activity in transgenic D. parva with overexpression of PK gene. This study explored the function of PK gene, and improved the medicinal value of D. parva.


Assuntos
Clorofíceas , Microalgas , Carotenoides/metabolismo , Antioxidantes , Microalgas/genética , Fatores de Transcrição , Proteínas Quinases
8.
PLoS One ; 18(12): e0295973, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38100462

RESUMO

Carotenoids are antioxidants, which reduce various chronic diseases of human, and have many industrial applications. The halophilic Dunaliella parva (D. parva) is rich in carotenoids. The compounds CaCl2 and PEG are the popular metabolic enhancers. To further enhance carotenogenesis, D. parva was treated with two compounds polyethylene glycol (PEG) and CaCl2. Application of CaCl2 and PEG enhanced the carotenoids contents and the antioxidant activities of carotenoids compared to control group (no treatment of CaCl2 or PEG). The highest carotenoids contents were obtained by treating D. parva with 40 ppm CaCl2 (3.11 mg/g dry weight, DW) and 80 ppm PEG (2.78 mg/g DW) compared with control group (1.96 mg/g DW). When D. parva was treated with 40 ppm CaCl2 and 80 ppm PEG, protein contents reached the highest values (90.28 mg/g DW and 89.57 mg/g DW) compared to that of control group (73.42 mg/g DW). The antioxidant activities of carotenoids samples were determined. Generally, the antioxidant activities of carotenoids from D. parva treated with PEG and CaCl2 were superior to that of control group. The antioxidant activities of carotenoids mainly contained reducing power, hydroxyl radical scavenging activity and superoxide radical scavenging activity. The reducing powers of carotenoids extracts from 20 ppm CaCl2 group (2.07%/mg carotenoids) and 120 ppm PEG group (1.59%/mg carotenoids) were significantly higher than that of control group (<1.25%/mg carotenoids). The superoxide radical scavenging activities of carotenoids extracts from 40 ppm CaCl2 group (70.33%/mg carotenoids) and 80 ppm PEG group (65.94%/mg carotenoids) were significantly higher than that of control group (<55%/mg carotenoids). This paper laid a foundation for massive accumulation of carotenoids in microalga D. parva.


Assuntos
Clorofíceas , Microalgas , Humanos , Antioxidantes/farmacologia , Antioxidantes/metabolismo , Microalgas/metabolismo , Cloreto de Cálcio , Polietilenoglicóis , Superóxidos , Carotenoides/metabolismo , Clorofíceas/metabolismo
9.
Heliyon ; 9(10): e20223, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37810849

RESUMO

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome that is characterized by postnatal growth deficiency, hypotonia, short stature, mild-to-moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads, and distinct facial appearance. It is mainly caused by pathogenic/likely pathogenic variants in the KMT2D or KDM6A genes. Here, we described the clinical features of nine sporadic KS patients with considerable phenotypic heterogeneity. In addition to intellectual disability and short stature, our patients presented with a high prevalence of motor retardation and recurrent otitis media. We recommended that KS should be strongly considered in patients with motor delay, short stature, intellectual disability, language disorder and facial deformities. Nine KMT2D variants, four of which were novel, were identified by whole-exome sequencing. The variants included five nonsense variants, two frameshift variants, one missense variant, and one non-canonical splice site variant. In addition, we reviewed the mutation types of the pathogenic KMT2D variants in the ClinVar database. We also indicated that effective mRNA analysis, using biological materials from patients, is helpful in classifying the pathogenicity of atypical splice site variants. Pedigree segregation analysis may also provide valuable information for pathogenicity classification of novel missense variants. These findings extended the mutation spectrum of KMT2D and provided new insights into the understanding of genotype-phenotype correlations, which are helpful for accurate genetic counseling and treatment optimization.

10.
Mol Genet Genomic Med ; 11(9): e2215, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37330975

RESUMO

BACKGROUND: Homozygous or compound heterozygous ROBO3 gene mutations cause horizontal gaze palsy with progressive scoliosis (HGPPS). This is an autosomal recessive disorder that is characterized by congenital absence or severe restriction of horizontal gaze and progressive scoliosis. To date, almost 100 patients with HGPPS have been reported and 55 ROBO3 mutations have been identified. METHODS: We described an HGPPS patient and performed whole-exome sequencing (WES) to identify the causative gene. RESULTS: We identified a missense variant and a splice-site variant in the ROBO3 gene in the proband. Sanger sequencing of cDNA revealed the presence of an aberrant transcript with retention of 700 bp from intron 17, which was caused by a variation in the noncanonical splicing site. We identified five additional ROBO3 variants, which were likely pathogenic, and estimated the overall allele frequency in the southern Chinese population to be 9.44 × 10-4 , by a review of our in-house database. CONCLUSION: This study has broadened the mutation spectrum of the ROBO3 gene and has expanded our knowledge of variants in noncanonical splicing sites. The results could help to provide more accurate genetic counseling to affected families and prospective couples. We suggest that the ROBO3 gene should be included in the local screening strategy.


Assuntos
Transtornos da Motilidade Ocular , Escoliose , Humanos , Receptores Imunológicos/genética , Receptores de Superfície Celular/genética , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/genética , Escoliose/patologia , Estudos Prospectivos , Paralisia
11.
Biomed Chromatogr ; 37(8): e5620, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36942894

RESUMO

Citronella is used as a spice and a traditional herbal medicine. Dried citronella is easy to store and transport, and it is unclear whether dried citronella has more or fewer medicinal components compared to fresh citronella. In the present study, various metabolites in fresh and dry citronella were detected using a widely targeted metabolomics strategy. We identified 712 metabolites and classified them into 31 categories, and we identified 132 flavonoids. After citronella was dried, the quantities of most kinds of flavonoids increased, but the quantities of amino acids, organic acids, and vitamins decreased, and the quantity of quercetin increased significantly. Therefore, the medicinal value of dry citronella may have increased, and the nutritional value of amino acids and vitamins may have decreased. The results of this study can serve as a new theoretical reference to study citronella and promote its nutrition and medicinal chemical composition.


Assuntos
Cymbopogon , Magnoliopsida , Cymbopogon/metabolismo , Metabolômica/métodos , Flavonoides/análise , Vitaminas , Aminoácidos
12.
Chem Asian J ; 18(2): e202201027, 2023 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-36451290

RESUMO

Herein, a series of carbon dot composites (CDC) with full-color and long-lived room-temperature phosphorescence (RTP) are prepared by a simple solid-phase one-step method from a single non-conjugated and non-aromatic carbon source. The RTP emission wavelength can be adjusted from 462 to 623 nm by changing the feeding ratio and reaction temperature. The luminescent lifetime and quantum yield of a green emissive CDC (AB-CDC-3) reach 1.1 s and 39%, respectively, because of the close interaction between carbon dots and inorganic matrix. Due to the existence of multiple luminescent centers, these CDC exhibit excitation wavelength-dependent RTP and a white emission when excited at a specific wavelength. A single-component afterglow luminescent diode based on AB-CDC-4 shows a high-quality white emission with CIE of (0.30, 0.33) and color-rendering index of 88. Based on the unique photophysical properties of the composites, they exhibit huge application potential in the field of multilevel anti-counterfeiting, fingerprint identification, and optoelectronic devices.


Assuntos
Carbono , Luminescência , Temperatura
13.
Biomed Chromatogr ; 37(2): e5545, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36353775

RESUMO

Pueraria lobata is a traditional medicinal and edible plant. Its root is often used as a nutritional supplement, but its stems and leaves are often discarded. In this study, the types and contents of compounds in roots, stems and leaves of kudzu were studied by ultra-high-performance liquid chromatography electrospray ionization tandem mass spectrometry. A total of 446 metabolites were identified, which were mainly divided into eight categories; 40 unique compounds were detected in roots. Multivariate statistical analysis showed that there were significant differences in the contents of metabolites in the roots, stems and leaves of kudzu, and the most significant differences were found in the roots and stems. Most flavonoids and terpenoids accumulated in roots, while alkaloids, flavonoid glycosides, lignans and coumarins accumulated in stems and leaves. In addition, isoflavones accumulated least in stems and most in roots. These results improved our understanding of the accumulation of metabolites in kudzu and provided a reference for the full study of the medicinal value of different parts of kudzu.


Assuntos
Isoflavonas , Pueraria , Espectrometria de Massas por Ionização por Electrospray/métodos , Pueraria/química , Flavonoides/química , Isoflavonas/análise , Metabolômica/métodos , Cromatografia Líquida de Alta Pressão/métodos , Raízes de Plantas/química
14.
Neurol Genet ; 8(6): e200025, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36275919

RESUMO

Background and Objectives: Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor delay, behavioral abnormalities, and facial dysmorphism. It is caused by a heterozygous pathogenic variant in the thyroid hormone receptor interactor 12 (TRIP12) gene. However, loss of function and haploinsufficiency are the pathogenic mechanisms behind the TRIP12-related disorder. Methods: We conducted an exome sequencing analysis for 2 unrelated patients with moderate intellectual disability, speech delay, and motor delay. Results: We identified 2 de novo TRIP12 mutations in these 2 patients. One patient had a frameshift duplication, whereas the other had a synonymous variant. Both patients presented with common features of the syndrome, but clinical heterogeneity has been also observed between them. For the synonymous variant, reverse transcription PCR in RNA extracted from leukocytes demonstrated the presence of a truncated messenger RNA (mRNA) transcript that skipped exon 12. This transcript escapes degradation at the mRNA level. To assess the effect of the synonymous substitute on TRIP12 proteolytic activity, the expression of 9 known responsive genes at the mRNA level was measured, of which 3 genes were upregulated at least 2-fold in the patient. Discussion: We reported 2 patients with Clark-Baraitser syndrome caused by novel synonymous and frameshift variants in the TRIP12 gene, and our study expands the mutation spectrum of the TRIP12 gene. This study will help to improve our understanding of variable phenotypic presentations in TRIP12-related disorders.

15.
Nanomicro Lett ; 14(1): 168, 2022 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-35987964

RESUMO

HIGHLIGHTS: A self-grinding exfoliation strategy that depends on mutual shear friction between flake graphite particles is successfully developed to prepare pristine graphene with largely enhanced yield and productivity. Bioinspired assembly of pristine graphene nanosheets to an interconnected aramid nanofiber network is achieved by a continuous sol-gel-film transformation strategy and generates a flexible yet highly thermoconductive film. Flexible yet highly thermoconductive materials are essential for the development of next-generation flexible electronic devices. Herein, we report a bioinspired nanostructured film with the integration of large ductility and high thermal conductivity based on self-exfoliated pristine graphene and three-dimensional aramid nanofiber network. A self-grinding strategy to directly exfoliate flake graphite into few-layer and few-defect pristine graphene is successfully developed through mutual shear friction between graphite particles, generating largely enhanced yield and productivity in comparison to normal liquid-based exfoliation strategies, such as ultrasonication, high-shear mixing and ball milling. Inspired by nacre, a new bioinspired layered structural design model containing three-dimensional nanofiber network is proposed and implemented with an interconnected aramid nanofiber network and high-loading graphene nanosheets by a developed continuous assembly strategy of sol-gel-film transformation. It is revealed that the bioinspired film not only exhibits nacre-like ductile deformation behavior by releasing the hidden length of curved aramid nanofibers, but also possesses good thermal transport ability by directionally conducting heat along pristine graphene nanosheets.

16.
Artigo em Inglês | MEDLINE | ID: mdl-35742777

RESUMO

An age-friendly environment is one of the measures of healthy aging. However, there is scarce evidence of the relationship between the age-friendliness of communities (AFC) and frailty status among Chinese older adults. This study aims to examine this relationship using a multilevel analysis with the data of a cross-sectional study conducted among 10,958 older adults living in 43 communities in four cities in China. The validated Age-friendly Community Evaluation Scale and Chinese frailty screening-10 Scale (CFS-10) were used to measure AFC and Frailty. Multilevel regression analyses were performed to examine the relationship between the AFC in two assessments of individual- and community-level and frailty status. After controlling for individual-level socio-demographic, health status, and lifestyle variables, compared with older adults in the lowest quartile of the individual-level perception of AFC, the frailty odds ratios for those in the top three quartiles were 0.69 (95% confidence interval [CI]: 0.56-0.83), 0.75 (95% CI: 0.61-0.91), and 0.56 (95% CI: 0.48-0.74). However, there was no association between the community-level AFC and frailty. A higher level of age-friendliness in the community is associated with lower frailty odds. Therefore, building age-friendly communities may be an important measure to prevent frailty among Chinese older adults.


Assuntos
Fragilidade , Idoso , China/epidemiologia , Estudos Transversais , Idoso Fragilizado , Fragilidade/epidemiologia , Nível de Saúde , Humanos , Vida Independente , Análise Multinível
17.
Brain Dev ; 44(8): 540-545, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35491272

RESUMO

PURPOSE: Mutations in ASPM are the most common causes of primary microcephaly (MCPH), which is a rare brain developmental disorder with few studies in Chinese population so far. This study aimed to identify the common pathogenic variants of ASPM and estimated the incidence of MCPH5 in Guangxi population. METHODS: We ascertained six MCPH cases caused by ASPM mutations in Guangxi Zhuang Autonomous Region, Whole-exome sequencing (WES) was performed to uncover the causal variants. The haplotype analysis was used to estimate the age of the recurrent variation. RESULTS: Five different pathogenic variants were identified in this batch of MCPH5 cases, including two novel variants p.Ser842fs*9 and p.Lys1340Argfs*29. An rarely reported pathogenic variant, c.1789C>T/p.Arg597* was found to be a founder mutation in local population. We evaluated all ASPM variants detected among 2674 non-microcephalic individuals and estimated the MCPH5 incidence to be 5.03/1,000,000 in Guangxi population. CONCLUSIONS: We reported the first case series of Chinese MCPH cases with ASPM mutation and revealed a highly recurrent founder mutation in this local population. MCPH5 may be the major type of congenital microcephaly in Chinese population.


Assuntos
Microcefalia , Proteínas do Tecido Nervoso , China/epidemiologia , Efeito Fundador , Humanos , Microcefalia/epidemiologia , Microcefalia/genética , Mutação , Proteínas do Tecido Nervoso/genética
18.
BMC Geriatr ; 22(1): 414, 2022 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-35546663

RESUMO

BACKGROUND: Metabolic Syndrome (MetS) is a common health problem among older adults. Previous studies have revealed the relationship between sleep duration as well as global sleep status and MetS. OBJECTIVES: This study aims to examine the association between the specific sleep characteristic and MetS as well as MetS components among community-dwelling old adults. METHODS: This cross-sectional study included 1499 community residents aged ≥ 60 years. Sleep characteristics were assessed using the Pittsburgh Sleep Quality Index (PSQI) and bed/rise time of the residents. Logistic regression analysis and multiple linear regression analysis were used to examine the associations between sleep characteristics and MetS as well as MetS components. A generalized additive model was built to assess the smooth relationship between triglyceride (TG) levels and sleep duration. RESULTS: Of the 1499 participants, 449 (30.0%) had MetS, and 443 (29.6%) had poor sleep quality. The rise time was found to be associated with MetS (> 6:00 vs. 5:00 ~ 6:00: adjusted OR (95%) = 1.77 (1.17-2.69), P = 0.007). For the MetS components, a U-shaped relationship was first revealed for sleep duration and TG levels (EDF = 1.85, P < 0.001). Furthermore, significant associations also included the associations of subjective sleep quality and daytime dysfunction with hypertension, the associations of sleep efficiency and rise time with hyperglycemia, the associations of rise time with TG levels, and the association of bedtime with waist circumference. CONCLUSIONS: The different sleep characteristics were associated with different MetS components.


Assuntos
Síndrome Metabólica , Idoso , Estudos Transversais , Humanos , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Fatores de Risco , Sono , Circunferência da Cintura
19.
Clin Chim Acta ; 531: 120-125, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35358470

RESUMO

BACKGROUND: Bartter syndrome is an inherited renal tubular disorder that is characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Bartter syndrome type 1 is caused by SLC12A1 mutations. METHODS: The patients were from two unrelated non-consanguineous Chinese families. Both patients presented with intrauterine growth retardation, premature delivery, failure to thrive, polyuria and metabolic alkalosis. Whole-exome sequencing was used to identify the causative gene. RESULTS: Exome sequencing identified three novel SLC12A1 mutations in our patients. And we found the two patients had significantly different outcomes when they were two years of age. Moreover, we identified four novel variants of SLC12A1 that were likely to be pathogenic, from our in-house database. A review of the whole-exome sequencing data of patient 1 lead to her brother being genetically diagnosed with pulmonary alveolar microlithiasis, which was caused by compound heterozygous SLC34A2 variations. CONCLUSION: We reported two children from one family who were affected by different rare conditions. This study expanded the mutation spectra of the SLC12A1 and SLC34A2 genes. We showed the important role of early genetic testing for disease diagnosis and emphasized the importance of standardized treatment and management.


Assuntos
Alcalose , Síndrome de Bartter , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Criança , Feminino , Humanos , Masculino , Mutação , Prognóstico , Membro 1 da Família 12 de Carreador de Soluto/genética
20.
ACS Nano ; 16(4): 6224-6232, 2022 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-35293215

RESUMO

Developing high-performance materials from existing natural materials is highly desired because of their environmental friendliness and low cost; two-dimensional nanoclay exfoliated from layered silicate minerals is a good building block to construct multilayered macroscopic assemblies for achieving high mechanical and functional properties. Nevertheless, the efforts have been frustrated by insufficient inter-nanosheet stress transfer and nanosheet misalignment caused by capillary force during solution-based spontaneous assembly, degrading the mechanical strength of clay-based materials. Herein, a constrained assembly strategy that is implemented by in-plane stretching a robust water-containing nanoclay network with hydrogen and ionic bonding is developed to adjust the 2D topography of nanosheets within multilayered nanoclay film. In-plane stretching overcomes capillary force during water removal and thus restrains nanosheet conformation transition from nearly flat to wrinkled, leading to a highly aligned multilayered nanostructure with synergistic hydrogen and ionic bonding. It is proved that inter-nanosheet hydrogen and ionic bonding and nanosheet conformation extension generate profound mechanical reinforcement. The tensile strength and modulus of natural nanoclay film reach up to 429.0 MPa and 43.8 GPa and surpass the counterparts fabricated by normal spontaneous assembly. Additionally, improved heat insulation function and good nonflammability are shown for the natural nanoclay film and extend its potential for realistic uses.

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