Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 198
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Nature ; 619(7968): 112-121, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37316654

RESUMO

Human genomics is witnessing an ongoing paradigm shift from a single reference sequence to a pangenome form, but populations of Asian ancestry are underrepresented. Here we present data from the first phase of the Chinese Pangenome Consortium, including a collection of 116 high-quality and haplotype-phased de novo assemblies based on 58 core samples representing 36 minority Chinese ethnic groups. With an average 30.65× high-fidelity long-read sequence coverage, an average contiguity N50 of more than 35.63 megabases and an average total size of 3.01 gigabases, the CPC core assemblies add 189 million base pairs of euchromatic polymorphic sequences and 1,367 protein-coding gene duplications to GRCh38. We identified 15.9 million small variants and 78,072 structural variants, of which 5.9 million small variants and 34,223 structural variants were not reported in a recently released pangenome reference1. The Chinese Pangenome Consortium data demonstrate a remarkable increase in the discovery of novel and missing sequences when individuals are included from underrepresented minority ethnic groups. The missing reference sequences were enriched with archaic-derived alleles and genes that confer essential functions related to keratinization, response to ultraviolet radiation, DNA repair, immunological responses and lifespan, implying great potential for shedding new light on human evolution and recovering missing heritability in complex disease mapping.


Assuntos
População do Leste Asiático , Etnicidade , Variação Genética , Genoma Humano , Genética Humana , Grupos Minoritários , Humanos , População do Leste Asiático/classificação , População do Leste Asiático/genética , Etnicidade/genética , Genoma Humano/genética , Análise de Sequência de DNA , Raios Ultravioleta , Genética Humana/normas , Minorias Étnicas e Raciais , Padrões de Referência , Haplótipos/genética , Eucromatina/genética , Alelos , Reparo do DNA/genética , Queratinas/genética , Queratinas/metabolismo , Longevidade/genética , Imunidade/genética
2.
BMC Infect Dis ; 24(1): 41, 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38172708

RESUMO

BACKGROUND: Imported cerebral malaria (CM) cases in non-endemic areas are often misdiagnosed, which delays treatment. Post-malaria neurological syndrome (PMNS) after recovery from severe malaria can also complicate diagnosis. CASE: We report an imported malaria case from West Africa with two sequential episodes with neurological syndromes within about a month. The first episode was diagnosed as CM with microscopy-positive Plasmodium falciparum infection. The second episode, occurring a month after the recovery from the first CM episode, was consistent with PMNS, since malaria parasites were not detected by microscopy in peripheral blood smears. However, this diagnosis was complicated by the detection of Plasmodium vivax in peripheral blood by PCR, suggesting a potential cause of the second episode by P. vivax. CONCLUSION: This study suggests that PMNS often occurs after severe falciparum malaria. Concurrent P. vivax infection with pathogenic biomass being predominantly extravascular further complicates accurate diagnosis.


Assuntos
Malária Cerebral , Malária Falciparum , Malária Vivax , Plasmodium , Humanos , Plasmodium falciparum , Malária Falciparum/complicações , Malária Falciparum/diagnóstico , Malária Falciparum/parasitologia , Malária Vivax/complicações , Malária Vivax/diagnóstico , Malária Vivax/parasitologia , Plasmodium vivax/genética , Malária Cerebral/complicações , Malária Cerebral/diagnóstico
3.
Appl Opt ; 63(7): 1783-1793, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38437281

RESUMO

A well-considered initial structure plays a key role in the design of an exceptional spectrometer. Previously, the design method for the optical initial structure (MOIS) that has only focused on the optical properties based on simple imaging formulas and coma-free conditions has been extensively researched. However, as the shape and size of any optical component are not considered for the MOIS, the optical parameters before and after optimization are very different, which results in a loss of reference value of the initial structure. In order to address the aforementioned issues, a more efficient design method for engineering initial structure (MEIS) of the spectrometer is proposed, where not only the above optical properties are considered but also the relative position and size of any optical component in order to avoid the interference between the optical components. For the MEIS, three important anti-interference conditions between components are deduced through ray tracing, and the relevant imaging formulas are derived by geometric optics, which leads to the rapid calculation of component parameters and the acquisition of an initial structure satisfying the corresponding design requirements by setting reasonable spacing margins. To verify the validity of the MEIS, a wide-band high-resolution spectrometer system with a large CCD Toucan 216 is designed within a wavelength range of 700-1000 nm and a resolution of 0.5 nm. Compared with the MOIS, the positions of each component in the MEIS are more rationalized, which significantly eliminates the complex optimization processes. For the MEIS, changes only in the position of the image plane occur with minimal variations in the axial and vertical wheelbase (less than 0.5 mm) as well as the deflection angle (only 0.5°), with favorable evaluation indices. The MEIS has an important reference value for the rapid and efficient design of excellent spectrometers.

4.
Int Heart J ; 65(4): 723-729, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39085111

RESUMO

Congenital heart disease (CHD) accounts for nearly one-third of all major congenital anomalies, with atrial septal defect (ASD) and ventricular septal defect (VSD) being the most common forms of simple CHD, which involve a large number of susceptibility genes. However, despite extensive research, the etiology of ASD and VSD remains unclear. Yunnan Province has advantages in exploring CHD pathogenesis due to its unique genetic background. Therefore, we aimed to evaluate the association between single nucleotide polymorphisms (SNPs) of genes and susceptibility to simple CHD in a specific population by means of a case-control study. A total of 337 healthy controls and 767 patients with simple CHD (501 ASD and 266 VSD) from China were recruited. Candidate SNPs were identified through whole-genome sequencing of pooled CHD patients and controls (pool-seq). Genotyping from 1,104 samples was performed, and stratified analysis was conducted to explore the association between positive SNPs and CHD subtypes. χ2 tests and logistic regression were used to analyze the relationship between each SNP and simple CHD. Of 11 SNPs identified, SOD2 rs62437333 (P = 0.005) and POU5F1 rs3130504 (P = 0.017) showed differences between the control and ASD cohorts. In the dominant inheritance model hypothesis, rs62437333 allele C carriers had increased ASD (odds ratio (OR) = 2.04, P = 0.005) and combined simple CHD risk (OR = 2.33, P = 0.012) compared to DD genotype, while rs3130504 allele C carriers had increased ASD risk (OR = 1.121, P = 0.045) compared to DD genotype.


Assuntos
Povo Asiático , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Superóxido Dismutase , Humanos , Masculino , Feminino , China/epidemiologia , Estudos de Casos e Controles , Superóxido Dismutase/genética , Povo Asiático/genética , Cardiopatias Congênitas/genética , Criança , Adulto , Pré-Escolar , Adolescente , Comunicação Interatrial/genética , Comunicação Interventricular/genética , Comunicação Interventricular/epidemiologia , Genótipo , População do Leste Asiático
5.
J Infect Dis ; 2023 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-38041857

RESUMO

BACKGROUND: Plasmodium vivax presents a significant challenge for malaria elimination in the Greater Mekong Subregion (GMS). We evaluated the effectiveness of primaquine (PQ) for reducing relapses of vivax malaria. METHODS: Patients with uncomplicated P. vivax malaria from eastern Myanmar received chloroquine (CQ, 25 mg base/kg given in 3 days) plus unsupervised PQ (0.25 mg/kg/day for 14 days) without screening for glucose-6-phosphate dehydrogenase deficiency and were followed for a year. RESULTS: Totally 556 patients were enrolled to receive the CQ/PQ treatment from February 2012 to August 2013. During the follow-up, 38 recurrences were detected, presenting a cumulative rate of recurrence of 9.1% (95% confidence interval, 4.1-14.1%). Genotyping at the pvmsp1 and pvmsp3α loci by Amplicon deep sequencing and model prediction indicated that 13 of the 27 recurrences with genotyping data were likely due to relapses. Notably, all confirmed relapses occurred within the first six months. CONCLUSIONS: The unsupervised standard dose of PQ was highly effective as a radical cure for P. vivax malaria in eastern Myanmar. The high presumed effectiveness might have benefited from the health messages delivered during the enrollment and follow-up activities. Six-month follow-ups in the GMS are sufficient for detecting most relapses.

6.
Artigo em Inglês | MEDLINE | ID: mdl-33685900

RESUMO

Plasmodium falciparum from the Greater Mekong subregion has evolved resistance to the artemisinin-based combination therapy dihydroartemisinin and the partner drug piperaquine. To monitor the potential westward spread or independent evolution of piperaquine resistance, we evaluated the in vitro susceptibility of 120 P. falciparum isolates collected at the China-Myanmar border during 2007-2016. The parasite isolates displayed a relatively wide range of piperaquine susceptibility estimates. While 56.7% of the parasites showed bimodal drug response curves, all but five generated area-under-the-curve (AUC) estimates consistent with a susceptible phenotype. Using the piperaquine survival assay (PSA), 5.6% parasites showed reduced susceptibility. Of note, parasites from 2014-2016 showed the highest AUC value and the highest proportion with a bimodal curve, suggesting falling effectiveness in these later years. Unsupervised K-mean analysis of the combined data assigned parasites into three clusters and identified significant correlations between IC50, IC90, and AUC values. No parasites carried the E415G mutation in a putative exo-nuclease, new mutations in PfCRT, or amplification of the plasmepsin 2/3 genes, suggesting mechanisms of reduced piperaquine susceptibility that differ from those described in other countries of the region. The association of increased AUC, IC50, and IC90 values with major PfK13 mutations (F446I and G533S) suggests that piperaquine resistance may evolve in these PfK13 genetic backgrounds. Additionally, the Pfmdr1 F1226Y mutation was associated with significantly higher PSA values. Further elucidation of piperaquine resistance mechanisms and continuous surveillance are warranted.

7.
J Med Virol ; 95(11): e29202, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37909741

RESUMO

Echovirus 3 (E3) belongs to the species Enterovirus B. Currently, three nearly whole-genome sequences of E3 are available in GenBank in China. In this study, we determined the whole genomic sequences of six E3 strains isolated from the stools of patients with hand-foot-and-mouth disease in Southwest China in 2022. Their nucleotide and amino acid sequences shared 82.1%-86.4% and 96.6%-97.2% identity with the prototype Morrisey strain, respectively, and showed 87.1% and 97.2% mutual identity. The six E3 strains are not clustered with other Chinese strains and formed a novel subgenotype (C6) with the recent American and British strains. Recombination analyses revealed that intertype recombination had occurred in the 2 C and 3D regions of the six E3 strains with coxsackieviruses B5 and B4, respectively. This study augments the nearly whole-genome sequences of E3 in the GenBank database and extends the molecular characterization of this virus in China.


Assuntos
Febre Aftosa , Doença de Mão, Pé e Boca , Humanos , Animais , Doença de Mão, Pé e Boca/genética , Enterovirus Humano B , Genômica , Sequência de Aminoácidos , China , Filogenia , Genoma Viral
8.
Infection ; 51(1): 213-222, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35976559

RESUMO

BACKGROUND: Primaquine is essential for the radical cure of Plasmodium vivax malaria, but it poses a potential danger of severe hemolysis in G6PD-deficient (G6PDd) patients. This study aimed to determine whether primaquine is safe in a population with high G6PD prevalence but lacking G6PD diagnosis capacity. METHODS: In Myanmar, 152 vivax patients were gender- and age-matched at 1:3 for G6PDd versus G6PD-normal (G6PDn). Their risk of acute hemolysis was followed for 28 days after treatment with the standard chloroquine and 14-day primaquine (0.25 mg/kg/day) regimen. RESULTS: Patients anemic and non-anemic at enrollment showed a rising and declining trend in the mean hemoglobin level, respectively. In males, the G6PDd group showed substantially larger magnitudes of hemoglobin reduction and lower hemoglobin nadir levels than the G6PDn group, but this trend was not evident in females. Almost 1/3 of the patients experienced clinically concerning declines in hemoglobin, with five requiring blood transfusion. CONCLUSIONS: The standard 14-day primaquine regimen carries a significant risk of acute hemolytic anemia (AHA) in vivax patients without G6PD testing in a population with a high prevalence of G6PD deficiency and anemia. G6PD testing would avoid most of the clinically significant Hb reductions and AHA in male patients.


Assuntos
Antimaláricos , Deficiência de Glucosefosfato Desidrogenase , Malária Vivax , Feminino , Humanos , Masculino , Primaquina/efeitos adversos , Malária Vivax/tratamento farmacológico , Malária Vivax/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Hemólise , Antimaláricos/efeitos adversos , Prevalência , Glucosefosfato Desidrogenase/uso terapêutico , Hemoglobinas , Plasmodium vivax
9.
BMC Biol ; 20(1): 166, 2022 07 21.
Artigo em Inglês | MEDLINE | ID: mdl-35864541

RESUMO

BACKGROUND: Yunnan is located in Southwest China and consists of great cultural, linguistic, and genetic diversity. However, the genomic diversity of ethnic minorities in Yunnan is largely under-investigated. To gain insights into population history and local adaptation of Yunnan minorities, we analyzed 242 whole-exome sequencing data with high coverage (~ 100-150 ×) of Yunnan minorities representing Achang, Jingpo, Dai, and Deang, who were linguistically assumed to be derived from three ancient lineages (the tri-genealogy hypothesis), i.e., Di-Qiang, Bai-Yue, and Bai-Pu. RESULTS: Yunnan minorities show considerable genetic differences. Di-Qiang populations likely migrated from the Tibetan area about 6700 years ago. Genetic divergence between Bai-Yue and Di-Qiang was estimated to be 7000 years, and that between Bai-Yue and Bai-Pu was estimated to be 5500 years. Bai-Pu is relatively isolated, but gene flow from surrounding Di-Qiang and Bai-Yue populations was also found. Furthermore, we identified genetic variants that are differentiated within Yunnan minorities possibly due to the living circumstances and habits. Notably, we found that adaptive variants related to malaria and glucose metabolism suggest the adaptation to thalassemia and G6PD deficiency resulting from malaria resistance in the Dai population. CONCLUSIONS: We provided genetic evidence of the tri-genealogy hypothesis as well as new insights into the genetic history and local adaptation of the Yunnan minorities.


Assuntos
Minorias Étnicas e Raciais , Etnicidade , China/epidemiologia , Etnicidade/genética , Humanos
10.
J Med Virol ; 94(6): 2598-2606, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35149996

RESUMO

Coxsackievirus B2 (CVB2) is an enterovirus B (EV-B) species and can cause aseptic meningitis, myocarditis and hand, foot, and mouth disease (HFMD). We characterized a novel CVB2 (YN31V3) associated with HFMD in Yunnan, Southwest China, in 2019. Although YN31V3 and other Mainland China epidemic strains mainly belonged to genotype C, YN31V3 formed an independent branch. The genome sequence of the strain YN31V3 from this study showed a 12.91% nucleotide difference to its closest strain RW41-2/YN/CHN/2012. Recombination analyses showed that the newly isolated YN31V3 was probably a recombinant, which was closely related to CVB2 strains in the genomic P1 region and other EV-B strains in the P2 and P3 regions, respectively. YN31V3 strain had a temperature-sensitive phenotype. The challenge of suckling BALB/c mice with YN31V3 could cause symptoms of disease and severe pathological lesions.


Assuntos
Enterovirus , Doença de Mão, Pé e Boca , Animais , China/epidemiologia , Enterovirus/genética , Enterovirus Humano B , Genoma Viral , Genótipo , Doença de Mão, Pé e Boca/epidemiologia , Doença de Mão, Pé e Boca/genética , Humanos , Camundongos , Filogenia
11.
J Med Virol ; 94(2): 601-609, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34387895

RESUMO

Hand, foot, and mouth disease (HFMD) is a contagious disease that threatens the health of children under 5 years of age. Coxsackievirus A10 (CV-A10) is one of the main pathogens of HFMD. Currently, preventive vaccines and specific therapeutic drugs are not available for CV-A10. In this study, a total of 327 stool specimens were collected from pediatric patients from 2009 to 2017 during HFMD surveillance, among which 14 CV-A10 strains could only be isolated from rhabdomyosarcoma cells, but not from KMB17 and Vero cells. Through adaptive culture, 2 and 11 CV-A10 strains were recovered from Vero and KMB17 cell cultures, respectively. The growth of CV-A10 strains in Vero cells was better than that in KMB17 cells. The 14 CV-A10 strains belonged to the F genotype, and the nucleotides and amino acids of their complete genomes shared 92.6%-96.3% and 98.4%-98.9% identities, respectively. The different CV-A10 strains exhibited varying virulence in vivo, but had similar effects on tissue injury, with the hind limb muscles, kidneys, and lungs being severely affected. Additionally, the hind limb muscles had the highest viral loads. CV-A10 was found to exhibit a strong tropism to muscle tissue. The results of this study are critical to developing vaccines against CV-A10 infections.


Assuntos
Enterovirus Humano A/genética , Doença de Mão, Pé e Boca/virologia , Animais , Pré-Escolar , Chlorocebus aethiops , Enterovirus Humano A/isolamento & purificação , Feminino , Genótipo , Humanos , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Células Vero
12.
Clin Genet ; 102(4): 345-349, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35842834

RESUMO

Limb-Girdle muscular dystrophy (LGMD) is a group of muscle disorders with highly heterogeneous genetic patterns and clinical phenotypes, and this group includes multiple subtypes. Different LGMD subtypes have similar phenotypes and clinical overlaps, these subtypes are difficult to distinguish by clinical symptoms alone and can only be accurately diagnosed by analysis in combination with definitive genetic test results. Here, we report a female presenting features of LGMD. After analysis of whole-exome sequencing data, a novel homozygous POPDC3 variant c.486-1G>A (rs113419658) located in the acceptor splice site of intron 2 was identified in the proband. The variant effect on splicing were analyzed by genetic analysis based on cDNA synthesized by the patient's RNA. cDNA analysis indicated that the novel homozygous POPDC3 splice variant disrupted original acceptor splice site, which can cause a frameshift in the mRNA of the POPDC3 gene, thereby producing a truncated POPDC3 protein and ultimately affecting its normal function. POPDC3 variant was recently associated with recessive limb-girdle muscular dystrophy type 26 (LGMDR26). Based on the above results, we hypothesize that this variant is probably a pathogenic variant, and expand the gene variant spectrum of POPDC3.


Assuntos
Distrofia Muscular do Cíngulo dos Membros , Moléculas de Adesão Celular/genética , DNA Complementar , Feminino , Homozigoto , Humanos , Proteínas Musculares/genética , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Sítios de Splice de RNA/genética
13.
Infection ; 50(3): 681-688, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35034327

RESUMO

BACKGROUND: In the Greater Mekong Subregion of Southeast Asia, Plasmodium vivax malaria is endemic and causes significant morbidity. In this study, the efficacy of chloroquine for treating uncomplicated P. vivax malaria at the eastern and western borders of Myanmar was investigated. METHODS: A total of 197 participants with microscopically confirmed P. vivax infection were enrolled from three townships of the southeastern (Thanbyuzayat and Kawthoung) and western (Kyauktaw) borders of Myanmar. Patients were treated with chloroquine according to the national malaria treatment guidelines and followed for 28 days. RESULTS: Among the 197 enrollments, 172 completed the 28-day follow-up. Twelve recurrent P. vivax infections, all occurring in the third and fourth week, were detected, resulting in an overall cumulative rate of recurrence of 4.7% [95% confidence interval (CI) 1.5-7.8]. The incidence rate of recurrence varied among the three sites. In Thanbyuzayat township, no patients had recurrent parasitemia between days 7 and 28. In contrast, Kyauktaw township had a day 28 cumulative incidence rate of recurrence of 7.2% (95% CI 0.6-13.9%) compared to 6.9% (95% CI 0.6-13.2) in Kawthoung township. CONCLUSION: While this study confirmed the relatively high clinical efficacy of chloroquine for treating P. vivax in Myanmar with modest rates of recurrent infections within 28 days of the treatment, it also revealed considerable geographical heterogeneity of chloroquine efficacy, which warrants continuous surveillance efforts.


Assuntos
Antimaláricos , Malária Vivax , Antimaláricos/uso terapêutico , Cloroquina/uso terapêutico , Humanos , Malária Vivax/tratamento farmacológico , Malária Vivax/epidemiologia , Mianmar/epidemiologia , Plasmodium vivax
14.
BMC Infect Dis ; 22(1): 671, 2022 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-35927711

RESUMO

BACKGROUND: Hand, foot, and mouth disease (HFMD) is a common child infectious disease caused by more than 20 enterovirus (EV) serotypes. In recent years, enterovirus A71 (EV-A71) has been replaced by Coxsackievirus A6 (CV-A6) to become the predominant serotype. Multiple EV serotypes co-circulate in HFMD epidemics, and this study aimed to investigate the etiological epidemic characteristics of an HFMD outbreak in Kunming, China in 2019. METHODS: The clinical samples of 459 EV-associated HFMD patients in 2019 were used to amplify the VP1 gene region by the three sets of primers and identify serotypes using the molecular biology method. Phylogenetic analyses were performed based on the VP1 gene. RESULTS: Three hundred and forty-eight cases out of 459 HFMD patients were confirmed as EV infection. Of these 191 (41.61%) were single EV infections and 34.20% had co-infections. The EVs were assigned to 18 EV serotypes, of which CV-A6 was predominant (11.33%), followed by CV-B1 (8.93%), CV-A4 (5.23%), CV-A9 (4.58%), CV-A 16 (3.49%) and CV-A10 and CVA5 both 1.96%. Co-infection of CV-A6 with other EVs was present in 15.25% of these cases, followed by co-infection with CV-A16 and other EVs. The VP1 sequences used in the phylogenetic analyses showed that the CV-A6, CV-B1 and CV-A4 sequences belonged to the sub-genogroup D3 and genogroups F and E, respectively. CONCLUSION: Co-circulation and co-infection of multiple serotypes were the etiological characteristic of the HFMD epidemic in Kunming China in 2019 with CV-A-6, CV-B1 and CV-A4 as the predominant serotypes. This is the first report of CV-B1 as a predominant serotype in China and may provide valuable information for the diagnosis, prevention and control of HFMD.


Assuntos
Coinfecção , Enterovirus Humano A , Infecções por Enterovirus , Enterovirus , Doença de Mão, Pé e Boca , Criança , China/epidemiologia , Coinfecção/epidemiologia , Enterovirus/genética , Enterovirus Humano B , Infecções por Enterovirus/epidemiologia , Doença de Mão, Pé e Boca/epidemiologia , Humanos , Lactente , Vacinação em Massa , Filogenia
15.
J Environ Manage ; 302(Pt A): 113957, 2022 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-34673457

RESUMO

Coastal wetlands are the most valuable ecosystems on the earth but facing severe degradation and losses owing to climate change and anthropogenic activities. Many ecological engineering projects (EEP) have been conducted to mitigate the degradation of coastal wetlands. However, the geomorphological impacts of EEP on coastal wetlands have not been well documented. In this study, a method employed a process-based hydrodynamic model and remote sensing (RS) was developed to evaluate the impacts of EEP on the geomorphological change of a prototype Ramsar site. Results demonstrated that RS can improve the quality of bathymetry data for the numerical model with a decrease of RMSE of bathymetry data from 0.52 m to 0.3 m. RS data also showed good capacity in trend detection of geomorphological change spatially. Results showed the Chongming Dongtan wetland experienced erosion with an annual rate of -0.035 m/yr from 2013 to 2016 after the implementation of EEP. The deposition rate changed significantly in the area within 200 m of the EEP. It is found that the EEP modified the composition of vegetation, sediment transportation, as well as substrate stability, affecting the geomorphological change of coastal wetlands. The study suggested that the EEP is a direct and effective way to restore the coastal habitats for waterbirds from moderate anthropogenic disturbance. However, the modification of the coastal wetland ecosystem by EEP will potentially increase the vulnerability to global climate change. Therefore, Future studies are needed to further evaluate the advantages and disadvantages of EEP and identify a more sustainable approach for coastal management.


Assuntos
Ecossistema , Áreas Alagadas , Efeitos Antropogênicos , Conservação dos Recursos Naturais , Tecnologia de Sensoriamento Remoto
16.
Appl Opt ; 60(19): 5682-5690, 2021 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-34263862

RESUMO

There is only a small difference in Raman peaks between two materials, but they also represent different molecular materials. Therefore, the accurate identification ability for similar materials with small differences among their Raman peaks plays a key role in Raman spectrometers for material identification. However, the noises, the baseline (i.e., fluorescence backgrounds), and the requirements, such as fast and automated detection, of excellent user experiences cause many difficulties. In this paper, the target Raman peak is directly subtracted from the detected Raman spectrum by the adaptive minimum root mean square error (RMSE) estimation for a residual spectrum. Unlike the usual methods in which the detected Raman peak needs to be first recovered by removing the baseline from its Raman spectrum and then to be compared with the target Raman peak, our method can effectively enhance the contribution of small differences between the detected and the target Raman peak on the residual spectrum so as to make the RMSE of the residual spectrum more sensitive with increasing differences. On the other hand, the obtained RMSE of the residual spectrum only has a small change for the detected Raman spectrum with various baselines. So the common criteria (i.e., the third-order polynomials describing RMSE) to identify the detected Raman spectrum with various baselines and the target Raman spectrum is presented. Simulation results show that the small difference, where there is only an additional small Raman peak as low as 1/25 of the maximum peak height, can also be accurately identified. Experiments also demonstrate that similar materials can be accurately identified, whereas some commercial Raman spectrometers fail to identify them. Our method effectively deals with the problem in which the error of the complex baseline correction causes erroneous judgement in Raman spectrometers for material identification.

17.
Neurobiol Dis ; 140: 104851, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32243914

RESUMO

BACKGROUND: Variations in TOR1A were thought to be associated with early-onset isolated dystonia. The variant S287Y (NM_000113.2: c.860C > A, p. Ser287Tyr, rs766483672) was found in our late-onset isolated dystonia patient. This missense variant is adjacent to R288Q (c.863G > A, p. Arg288Gln), which was reported to be associated with isolated dystonia. The potentially pathogenic role of S287Y is not conclusively known. METHODS: Cytological and molecular biological analyses were performed in vitro to determine whether this variant damages the structure and function of the cell. RESULTS: Compared with the SH-SY5Y cells overexpressing wild-type TOR1A, the cells overexpressing the protein with S287Y have an enlarged peri-nuclear space. The same changes in nuclear morphology were also found in the cells overexpressing the pathogenic variants ΔE (NM_000113.2:c.904_906delGAG, p. Glu302del), F205I (NM_000113.2:c.613 T > A, p. Phe205Ile), and R288Q (NM_000113.2:c.863G > A, p. Arg288Gln). Mutated proteins with S287Y presented a higher tendency to form dimers under reducing conditions. The same tendencies were observed in other mutated proteins but not in wild-type torsinA. CONCLUSIONS: TorsinA with S287Y damages the structure of the cell nucleus and may be a novel pathogenic mutation that causes isolated dystonia.


Assuntos
Distonia/genética , Distúrbios Distônicos/genética , Mutação , Humanos , Masculino , Pessoa de Meia-Idade , Chaperonas Moleculares
18.
BMC Med Genet ; 21(1): 44, 2020 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-32111194

RESUMO

BACKGROUND: Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes may have important effects on the development of hypertension. Here we evaluate VDCCs variability with respect to hypertension in the Dai ethnic group of China. METHODS: A total of 1034 samples from Dai individuals were collected, of which 495 were used as cases, and 539 were used as controls. Blood pressure was measured using a standard mercury measurement method, three times with a rest for 5 min, and the average was used for analyses. Seventeen single nucleotide polymorphisms (SNPs) in the four protein-coding genes (CACNA1A, CACNA1C, CACNA1S, CACNB2) of VDCCs were identified by multiplex PCR-SNP typing technique. Chi-square tests and regression models were used to analyse the associations of SNPs with hypertension. RESULTS: The results of chi-square tests showed that the allele frequencies of 5 SNPs were significantly different between the case and the control groups (P < 0.05), but the statistical significance was lost after Bonferroni's correction. However, after adjusting for BMI, age, sex and other factors by logistic regression analyses, the results showed that 5 SNPs consistent with chi-square tests (rs2365293, rs17539088, rs16917217, rs61839222 and rs10425859) were still statistically positive. CONCLUSIONS: This finding suggested that the significant association of these SNPs with hypertension may be noteworthy in future studies.


Assuntos
Povo Asiático , Canais de Cálcio/genética , Hipertensão/etnologia , Hipertensão/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Povo Asiático/etnologia , Povo Asiático/genética , Pressão Sanguínea/genética , Estudos de Casos e Controles , China/epidemiologia , Etnicidade/genética , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade
19.
J Med Virol ; 92(8): 1085-1092, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31850595

RESUMO

Enterovirus A71 (EV-A71) infection is known to cause hand, foot, and mouth disease (HFMD). Last year, an inactivated EV-A71 whole virus vaccine was used to prevent this disease in Yunnan, China. To obtain a viral genetic background for evaluating vaccine protection and monitor the adaptive evolution of the virus after the vaccination, a 5-year molecular epidemiology survey was performed before the vaccination. Twenty-six EV-A71 strains were separated from 561 stool specimens of patients with serious HFMD. The whole-genomic sequences of these strains were sequenced. Phylogenetic trees were constructed, and the mutation spectra were analyzed based on these viral sequences. There was no obvious mutation for the circular EV-A71 strains of the same year. Pathogenic EV-A71 strains may arise from a "subgroup" randomly each year. Whole-genomic analyses showed that a hotspot nonsynonymous substitution potentially affecting the immunogenicity of vaccines was found in the 2A gene, but not in genes of the viral capsid proteins, and the genetic diversity of whole viral genomes associated with the incidence of HFMD. Therefore, it will be valuable to monitor the genome-wide changes of EV-A71 to detect the adaptive mutations affecting immunogenicity or perform investigations using genetic diversity as a parameter.


Assuntos
Enterovirus Humano A/genética , Infecções por Enterovirus/epidemiologia , Genoma Viral , Filogenia , Antígenos Virais/genética , China/epidemiologia , Fezes/virologia , Variação Genética , Doença de Mão, Pé e Boca/epidemiologia , Doença de Mão, Pé e Boca/virologia , Humanos , Mutação , RNA Viral/genética , Vacinação , Sequenciamento Completo do Genoma
20.
Malar J ; 19(1): 304, 2020 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-32854686

RESUMO

BACKGROUND: Currently, artemisinin-based combination therapy (ACT) is the first-line anti-malarial treatment in malaria-endemic areas. However, resistance in Plasmodium falciparum to artemisinin-based combinations emerging in the Greater Mekong Sub-region is a major problem hindering malaria elimination. To continuously monitor the potential spread of ACT-resistant parasites, this study assessed the efficacy of artemether-lumefantrine (AL) for falciparum malaria in western Myanmar. METHODS: Ninety-five patients with malaria symptoms from Paletwa Township, Chin State, Myanmar were screened for P. falciparum infections in 2015. After excluding six patients with a parasite density below 100 or over 150,000/µL, 41 P. falciparum patients were treated with AL and followed for 28 days. Molecular markers associated with resistance to 4-amino-quinoline drugs (pfcrt and pfmdr1), antifolate drugs (pfdhps and pfdhfr) and artemisinin (pfk13) were genotyped to determine the prevalence of mutations associated with anti-malarial drug resistance. RESULTS: For the 41 P. falciparum patients (27 children and 14 adults), the 28-day AL therapeutic efficacy was 100%, but five cases (12.2%) were parasite positive on day 3 by microscopy. For the pfk13 gene, the frequency of NN insert after the position 136 was 100% in the day-3 parasite-positive group as compared to 50.0% in the day-3 parasite-negative group, albeit the difference was not statistically significant (P = 0.113). The pfk13 K189T mutation (10.0%) was found in Myanmar for the first time. The pfcrt K76T and A220S mutations were all fixed in the parasite population. In pfmdr1, the Y184F mutation was present in 23.3% of the parasite population, and found in both day-3 parasite-positive and -negative parasites. The G968A mutation of pfmdr1 gene was first reported in Myanmar. Prevalence of all the mutations in pfdhfr and pfdhps genes assessed was over 70%, with the exception of the pfdhps A581G mutation, which was 3.3%. CONCLUSIONS: AL remained highly efficacious in western Myanmar. Pfk13 mutations associated with artemisinin resistance were not found. The high prevalence of mutations in pfcrt, pfdhfr and pfdhps suggests high-degree resistance to chloroquine and antifolate drugs. The pfmdr1 N86/184F/D1246 haplotype associated with selection by AL in Africa reached > 20% in this study. The detection of > 10% patients who were day-3 parasite-positive after AL treatment emphasizes the necessity of continuously monitoring ACT efficacy in western Myanmar.


Assuntos
Antimaláricos/uso terapêutico , Combinação Arteméter e Lumefantrina/uso terapêutico , Resistência a Medicamentos/genética , Plasmodium falciparum/genética , Adolescente , Adulto , Criança , Feminino , Humanos , Malária Falciparum/prevenção & controle , Masculino , Pessoa de Meia-Idade , Mianmar , Plasmodium falciparum/efeitos dos fármacos , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA