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1.
BMC Genomics ; 24(1): 299, 2023 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-37268915

RESUMO

BACKGROUND: Pueraria montana var. lobata (kudzu) is an important food and medicinal crop in Asia. However, the phylogenetic relationships between Pueraria montana var. lobata and the other two varieties (P. montana var. thomsonii and P. montana var. montana) remain debated. Although there is increasing evidence showing that P. montana var. lobata adapts to various environments and is an invasive species in America, few studies have systematically investigated the role of the phylogenetic relationships and evolutionary patterns of plastomes between P. montana var. lobata and its closely related taxa. RESULTS: 26 newly sequenced chloroplast genomes of Pueraria accessions resulted in assembled plastomes with sizes ranging from 153,360 bp to 153,551 bp. Each chloroplast genome contained 130 genes, including eight rRNA genes, 37 tRNA genes, and 85 protein-coding genes. For 24 newly sequenced accessions of these three varieties of P. montana, we detected three genes and ten noncoding regions with higher nucleotide diversity (π). After incorporated publically available chloroplast genomes of Pueraria and other legumes, 47 chloroplast genomes were used to construct phylogenetic trees, including seven P. montana var. lobata, 14 P. montana var. thomsonii and six P. montana var. montana. Phylogenetic analysis revealed that P. montana var. lobata and P. montana var. thomsonii formed a clade, while all sampled P. montana var. montana formed another cluster based on cp genomes, LSC, SSC and protein-coding genes. Twenty-six amino acid residues were identified under positive selection with the site model. We also detected six genes (accD, ndhB, ndhC, rpl2, rpoC2, and rps2) that account for among-site variation in selective constraint under the clade model between accessions of the Pueraria montana var. lobata clade and the Pueraria montana var. montana clade. CONCLUSION: Our data provide novel comparative plastid genomic insights into conservative gene content and structure of cp genomes pertaining to P. montana var. lobata and the other two varieties, and reveal an important phylogenetic clue and plastid divergence among related taxa of P. montana come from loci that own moderate variation and underwent modest selection.


Assuntos
Fabaceae , Genoma de Cloroplastos , Pueraria , Filogenia , Pueraria/genética , Fabaceae/genética , Evolução Biológica , Genômica
2.
BMC Plant Biol ; 23(1): 107, 2023 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-36814206

RESUMO

BACKGROUND: R2R3-MYB transcription factors regulate secondary metabolism, stress responses and development in various plants. Puerarin is a bioactive ingredient and most abundant secondary metabolite isolated from Pueraria lobata. The biosynthesis of puerarin proceeds via the phenylpropanoid pathway and isoflavonoids pathway, in which 9 key enzymes are involved. The expression of these structural genes is under control of specific PtR2R3-MYB genes in different plant tissues. However, how PtR2R3-MYB genes regulates structural genes in puerarin biosynthesis remains elusive. This study mined the PtR2R3-MYB genes involved in puerarin biosynthesis and response to hormone in Pueraria lobata var. thomsonii. RESULTS: A total of 209 PtR2R3-MYB proteins were identified, in which classified into 34 subgroups based on the phylogenetic topology and the classification of the R2R3-MYB superfamily in Arabidopsis thaliana. Furtherly physical and chemical characteristics, gene structure, and conserved motif analysis were also used to further analyze PtR2R3-MYBs. Combining puerarin content and RNA-seq data, speculated on the regulated puerarin biosynthesis of PtR2R3-MYB genes and structural genes, thus 21 PtR2R3-MYB genes and 25 structural genes were selected for validation gene expression and further explore its response to MeJA and GSH treatment by using qRT-PCR analysis technique. Correlation analysis and cis-acting element analysis revealed that 6 PtR2R3-MYB genes (PtMYB039, PtMYB057, PtMYB080, PtMYB109, PtMYB115 and PtMYB138) and 7 structural genes (PtHID2, PtHID9, PtIFS3, PtUGT069, PtUGT188, PtUGT286 and PtUGT297) were directly or indirectly regulation of puerarin biosynthesis in ZG11. It is worth noting that after MeJA and GSH treatment for 12-24 h, the expression changes of most candidate genes were consistent with the correlation of puerarin biosynthesis, which also shows that MeJA and GSH have the potential to mediate puerarin biosynthesis by regulating gene expression in ZG11. CONCLUSIONS: Overall, this study provides a comprehensive understanding of the PtR2R3-MYB and will paves the way to reveal the transcriptional regulation of puerarin biosynthesis and response to phytohormone of PtR2R3-MYB genes in Pueraria lobata var. thomsonii.


Assuntos
Arabidopsis , Pueraria , Genes myb , Pueraria/genética , Filogenia , Fatores de Transcrição/genética , Arabidopsis/genética , Hormônios/metabolismo , Regulação da Expressão Gênica de Plantas , Proteínas de Plantas/genética
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(9): 1107-1112, 2023 Sep 10.
Artigo em Zh | MEDLINE | ID: mdl-37643956

RESUMO

OBJECTIVE: To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). METHODS: Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders. RESULTS: With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment. CONCLUSION: GPB is safe and effective for the treatment of OTCD.


Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase , Criança , Humanos , Doença da Deficiência de Ornitina Carbomoiltransferase/tratamento farmacológico , Fenilbutiratos/uso terapêutico , Amônia , Estudos Retrospectivos
4.
Molecules ; 26(21)2021 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-34770994

RESUMO

Pueraria lobata and its variety P. lobata var. thomsonii are both traditional Chinese medicines that have high nutritional and medical value; whereas another variety, P. lobata var. montana has low nutritional and medicinal value and can cause ecological disasters. The material basis of different nutritional and medicinal values, which are caused by metabolite differences among these varieties, remains to be further clarified. Here, we performed ultra performance liquid chromatography-tandem mass spectrometry based widely targeted metabolome analysis on Pueraria lobata, P. lobata var. thomsonii, and P. lobata var. montana. Among them, a total of 614 metabolites were identified, and distinguished from each other using orthogonal partial least squares discriminant analysis. Our results suggest that the nutritional differences between P. lobata and its varieties can be explained by variations in the abundance of amino acids, nucleotides, saccharides, and lipids; differences in flavonoids, isoflavones, phenolic acids, organic acids, and coumarins contents caused the differences in the medicinal quality of P. lobata and its varieties. Additionally, the key metabolites responsible for the classification of the three Pueraria varieties were identified. This study provides new insights into the underlying metabolic causes of nutritional and medicinal variation in P. lobata and its varieties.


Assuntos
Medicamentos de Ervas Chinesas/análise , Metabolômica , Pueraria/química , Cromatografia Líquida de Alta Pressão , Medicamentos de Ervas Chinesas/metabolismo , Medicina Tradicional Chinesa , Valor Nutritivo , Pueraria/metabolismo , Espectrometria de Massas em Tandem
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 232-237, 2021 Mar 10.
Artigo em Zh | MEDLINE | ID: mdl-33751531

RESUMO

OBJECTIVE: To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS). METHODS: Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster. RESULTS: The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up. CONCLUSION: The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.


Assuntos
Síndrome da Fibromatose Hialina , Receptores de Peptídeos , Povo Asiático/genética , China , Humanos , Síndrome da Fibromatose Hialina/genética , Masculino , Mutação , Linhagem , Receptores de Peptídeos/genética , Estudos Retrospectivos
6.
BMC Genomics ; 20(1): 514, 2019 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-31226927

RESUMO

BACKGROUND: Polyploidization, pervasive among higher plant species, enhances adaptation to water deficit, but the physiological and molecular advantages need to be investigated widely. Long non-coding RNAs (lncRNAs) are involved in drought tolerance in various crops. RESULTS: Herein, we demonstrate that tetraploidy potentiates tolerance to drought stress in cassava (Manihot esculenta Crantz). Autotetraploidy reduces transpiration by lesser extent increasing of stomatal density, smaller stomatal aperture size, or greater stomatal closure, and reducing accumulation of H2O2 under drought stress. Transcriptome analysis of autotetraploid samples revealed down-regulation of genes involved in photosynthesis under drought stress, and less down-regulation of subtilisin-like proteases involved in increasing stomatal density. UDP-glucosyltransferases were increased more or reduced less in dehydrated leaves of autotetraploids compared with controls. Strand-specific RNA-seq data (validated by quantitative real time PCR) identified 2372 lncRNAs, and 86 autotetraploid-specific lncRNAs were differentially expressed in stressed leaves. The co-expressed network analysis indicated that LNC_001148 and LNC_000160 in autotetraploid dehydrated leaves regulated six genes encoding subtilisin-like protease above mentioned, thereby result in increasing the stomatal density to a lesser extent in autotetraploid cassava. Trans-regulatory network analysis suggested that autotetraploid-specific differentially expressed lncRNAs were associated with galactose metabolism, pentose phosphate pathway and brassinosteroid biosynthesis, etc. CONCLUSION: Tetraploidy potentiates tolerance to drought stress in cassava, and LNC_001148 and LNC_000160 mediate drought tolerance by regulating stomatal density in autotetraploid cassava.


Assuntos
Aclimatação/genética , Manihot/genética , RNA Longo não Codificante/fisiologia , RNA de Plantas/fisiologia , Secas , Perfilação da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Manihot/fisiologia , Fotossíntese/genética , Estômatos de Plantas/genética , Estômatos de Plantas/fisiologia , Estresse Fisiológico , Tetraploidia
7.
Photochem Photobiol Sci ; 18(5): 1075-1080, 2019 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-30657516

RESUMO

A DFT/TDDFT (density functional theory/time-dependent density functional theory) investigation on the geometries in the ground and lowest triplet excited states, the frontier molecular orbitals, the absorption spectra and the phosphorescent emission properties of five heteroleptic iridium(iii) complexes have been performed to obtain a better understanding of structure-property relationships. The key aim was to investigate the effect of π-conjugation on the photophysical properties of these studied complexes. The lowest energy absorption wavelengths are located at 461 nm for 1, 418 nm for 2, 422 nm for 3, 426 nm for 4 and 417 nm for 5. The lowest energy emissions of complexes 1-5 are localized at 572, 463, 583, 707 and 553 nm, respectively, simulated in acetonitrile medium at M052X level. These findings could be useful to provide good guidance for the further design of new potential phosphorescent organic light-emitting diode (OLED) materials.

8.
BMC Pediatr ; 19(1): 441, 2019 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-31722706

RESUMO

BACKGROUND: Pituitary tumors and/or their treatment are associated with multiple pituitary hormone deficiency (MPHD) in adults, but the distinct pituitary hormone profile of MPHD in Chinese children and adolescents remains unclear. METHODS: Patients with MPHD were divided into four groups according to their MRI results: 1) pituitary stalk interruption syndrome (PSIS); 2) hypoplasia; 3) normal; and 4) tumor survivor. RESULTS: Among the 184 patients, 93 patients (50.5%) were with PSIS, 24 (13.0%) had hypoplastic pituitary gland, 10 (5.4%) patients were normal, and 57 (31.0%) were tumor survivors. There was an association between abnormal fetal position and PSIS (P ≤ 0.001). The CA/BA in PSIS, hypoplasia, normal, tumor survivor groups were 2.27 ± 1.05, 1.48 ± 0.39, 1.38 ± 0.57, 1.49 ± 0.33, and HtSDS were - 3.94 ± 1.39, - 2.89 ± 1.09, - 2.50 ± 1.05, - 1.38 ± 1.63. Patients in PSIS group had the largest CA/BA (P ≤ 0.001 vs. hypoplasia group, P = 0.009 vs. normal group, P ≤ 0.001 vs. tumor survivors) and lowest HtSDS (P ≤ 0.001 vs. hypoplasia group, P = 0.003 vs. normal group, P ≤ 0.001 vs. tumor survivors). The levels of TSH in the PSIS, hypoplasia, normal, and tumor survivor groups were 1.03 ± 1.08 (P = 0.149 vs. tumor survivors), 1.38 ± 1.47 (P = 0.045 vs. tumor survivors), 2.49 ± 1.53 (P < 0.001 vs. tumor survivors), and 0.76 ± 1.15 µIU/ml. The levels of GH peak in PSIS, hypoplasia, normal, tumor survivor groups were 1.37 ± 1.78, 1.27 ± 1.52, 3.36 ± 1.79, 0.53 ± 0.52 ng/ml and ACTH were 27.50 ± 20.72, 25.05 ± 14.64, 34.61 ± 59.35, 7.19 ± 8.63 ng/ml. Tumor survivors had the lowest levels of GH peak (P ≤ 0.001 vs. PSIS group, P = 0.002 vs. hypoplasia group, P ≤ 0.001 vs. normal group) and ACTH (all the P ≤ 0.001 vs. the other three groups). CONCLUSION: The frequency of PSIS is high among children and adolescents with MPHD. The severity of hormone deficiencies in patients with MPHD was more important in the tumor survivor group compared with the other groups.


Assuntos
Hipopituitarismo/sangue , Hormônios Hipofisários/sangue , Hormônios Hipofisários/deficiência , Adolescente , Povo Asiático , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
9.
Environ Monit Assess ; 190(4): 232, 2018 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-29556731

RESUMO

Japanese schistosomiasis was endemic in Dongting Lake, the second largest freshwater lake in China. The technical sodium pentachlorophenate (Na-PCP) was widely used during the period between the early 1960s and early 1990s to kill oncomelania, the intermediate host of Schistosomes. However, polychlorinated dibenzo-p-dioxins (PCDDs) and polychlorinated dibenzofurans (PCDFs) also contaminated the environment of Dongting Lake due to trace impurities of Na-PCP. In this study, 13 species of freshwater fish were collected from Dongting Lake and analyzed in wet and dry seasons. Temporal (wet and dry season) variations in PCDD/Fs in fishes from Dongting Lake were observed. The concentration of PCDD/Fs was considerably higher in the wet season than in the dry season and in areas in China where Na-PCP was not applied. The higher level of PCDD/Fs in the wet season may be attributed to the use of Na-PCP in the past and to the increase in the migration of PCDD/Fs from sediments to water in the wet season. The results indicate that the risk of PCDD/Fs contamination is connected with prior consumption of fishes that live in the Na-PCP application area. However, there was no difference in the concentrations of polychlorinated biphenyls (PCBs) and polybrominated diphenyl ethers (PBDEs) between the wet and dry seasons.


Assuntos
Dibenzofuranos Policlorados/análise , Monitoramento Ambiental , Peixes/metabolismo , Dibenzodioxinas Policloradas/análise , Animais , Benzofuranos/análise , China , Dibenzofuranos Policlorados/metabolismo , Éteres Difenil Halogenados/análise , Lagos , Pentaclorofenol , Bifenilos Policlorados/análise , Dibenzodioxinas Policloradas/metabolismo , Esquistossomose/patologia , Estações do Ano , Poluentes Químicos da Água/análise
10.
Environ Monit Assess ; 190(6): 331, 2018 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-29744678

RESUMO

The original version of this article unfortunately contained an error in the affiliation section.

11.
J Clin Lab Anal ; 30(6): 1051-1055, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27120997

RESUMO

BACKGROUND: Fructosamine (FRA) is widely used for diabetes monitor and control as a glycemic marker, especially in patients in whom the measurement of HbA1c may be biased or even unreliable. However, the FRA reference intervals based on Asian population features still keep seldom reported. The objective of this study was to establish the adult FRA reference intervals in Beijing, China. METHODS: A total of 1,497 healthy subjects were separated into three groups by gender and age. Subsequently, FRA levels in the collected serum samples from the reference individuals were tested by automatic chemical analyzer. The obtained data were statistically analyzed with SPSS. RESULTS: The serum FRA level in female group was slightly higher than that in male group without statistical significance. Meanwhile, further analysis indicated that the FRA level gradually increased along with the growth of the age. Compared with the age 20-45 group (248.83 ± 17.64 µmol/l) or the age 46-65 group (251.95 ± 19.63 µmol/l), the FRA level of the age >65 group (264.63± 23.05 µmol/l) was statistically significantly increased (P < 0.01). To better analyze the difference, the age 20-45 group and the age 46-65 group were combined into an age 20-65 group (249.88 ±18.39 µmol/l). In comparison to the age >65 group, the FRA level of age 20-65 group was significantly decreased (P <0.01). CONCLUSION: A novel FRA reference interval of the local healthy population in Beijing was established. The data demonstrated that there was no gender difference in FRA level, however, which was significantly increased in elder persons.


Assuntos
Frutosamina/sangue , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Pequim , Jejum/sangue , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Fatores Sexuais , Adulto Jovem
12.
Photochem Photobiol Sci ; 13(3): 574-82, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24487963

RESUMO

We have reported a theoretical analysis of a series of heteroleptic iridium(III) complexes (mpmi)2Ir(fppi) [mpmi = 1-(4-tolyl)-3-methyl-imidazole, fppi = 4-fluoro-2-(pyrrol-2-yl)-pyridine] (1a), (mpmi)2Ir(dfpi) [dfpi = 4-fluoro-2-(3-fluoro-pyrrol-2-yl)-pyridine] (1b), (mpmi)2Ir(tfpi) [tfpi = 2-(pyrrol-2-yl)-4-trifluoromethyl-pyridine] (1c), (mpmi)2Ir(priq) [priq = 1-(pyrrol-2-yl)isoquinoline] (2a), (mpmi)2Ir(isql) [isql = 1-(indol-2-yl)-isoquinoline] (2b), and (mpmi)2Ir(biql) [biql = 1-(benzoimidazol-2-yl)-isoquinoline] (2c) by using the density functional theory (DFT) method to investigate their electronic structures, photophysical properties, and the phosphorescent efficiency mechanism. The results reveal that the nature of the ancillary ligands can affect the electron density distributions and energies of frontier molecular orbitals, resulting in changes of charge transfer performances and emission color. It is found that the studied complex 1c with the -CF3 substituent at the pyridine moiety results in the lower HOMO-LUMO energy gap and LUMO energy level, which will lead to a rich electron injection ability compared with that of 1a. For each complex studied (except 2b), the hole-transporting performance is better than the electron-transporting performance. In addition, for complexes 2a and 2b, the differences between reorganization energies for hole transport (λ(ih)) and reorganization energies for electron transport (λ(ie)) are relatively smaller, indicating that the hole and electron transfer balance could be achieved more easily in the emitting layer. It is believed that the largest metal to ligand charge transfer (MLCT) character, the higher µ(S1) and E(T1) values, as well as the smallest ΔE(S1-T1) value could result in higher phosphorescent quantum efficiency for 1b than those of other complexes.

13.
Molecules ; 19(12): 20314-24, 2014 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-25486245

RESUMO

The title compound was prepared via a cross-coupling reaction and its crystal structure has been determined. It crystallized in the triclinic space group P-1 with cell parameters: a = 8.552(2) Å, b = 11.310(2) Å, c = 16.150(3) Å, α = 109.55(3)°, ß = 91.45(3)°, γ = 91.28(3)°, V = 1470.6(5) Å3, Z = 2 at 296 K. There is one molecule in the asymmetric unit. In the crystal structure, the neighboring molecules from dimers by weak intermolecular π···π interactions between the pyrrole and tetrathiafulvalene units. The dimers are further linked through C-H···π interactions to generate one-dimensional chains along the [100] direction. The arrangement of the molecules corresponds to an overlap between the HOMO and LUMO.


Assuntos
Compostos Heterocíclicos/química , Pirróis/química , Compostos Heterocíclicos/síntese química , Modelos Moleculares , Estrutura Molecular
14.
Wei Sheng Yan Jiu ; 43(3): 423-9, 2014 May.
Artigo em Zh | MEDLINE | ID: mdl-24964622

RESUMO

OBJECTIVE: To survey the fatty acids contents of common marine fish from Yellow Sea of China. METHODS: The fatty acids were extracted from 38 species of common marine fish collected from Yellow Sea and then separated and detected by gas chromatography. RESULTS: The average content of total lipids for 38 species of marine fish ranged from 0.459 (platycephalus indicus) to 17.086 g/100 g (Embiotoca jacksoni). The main SFA, MUFA, n-6PUFA and n-3PUFA were C16:0, C18: 1n9, C20:4n6 and C22: 6n3 respectively. The content of total SFA ranged from 44.5 mg/100 g (Alaska po-llack) to 2442.9 mg/100 g (Embiotoca jacksoni). The content of total MUFA was in the range of 19.8 (Alaska po-llack) to 2753.5 mg/100 g (Harengulazunasi Bleeker). The content of total n-6PUFA varied between 9.5 (Alaska po-llack) and 939.5 mg/100 g (Chelon haematocheilus). The content of total n-3PUFA ranged from 84.3 (platycephalus indicus) to 1452.2 mg/100 g (Embiotoca jacksoni). The content of n-3PUFAs, EPA and DHA were positively associated with the content of total lipids (P < 0.001). CONCLUSION: There were significant differences between the 38 species of common marine fish from Yellow Sea of China. Most of common marine fish from Yellow Sea could be taken as good sources of n-3PUFA.


Assuntos
Ácidos Graxos/análise , Peixes , Alimentos Marinhos , Animais , China , Perciformes
15.
Exp Biol Med (Maywood) ; 249: 10035, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38651168

RESUMO

Shwachman Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder and due to its complex and varied clinical manifestations, diagnosis is often delayed. The purpose of this study was to investigate the clinical manifestations and genetic characteristics of SDS in Chinese patients, in order to increase pediatricians' awareness of SDS and to allow early diagnosis. We conducted a search to identify patients presenting SBDS gene pathogenic variant in two Chinese academic databases. We analyzed and summarized the epidemiology, clinical features, gene pathogenic variants, and key points in the diagnosis and treatment of SDS. We reviewed the clinical data of 39 children with SDS from previously published articles. The interval from the onset of the first symptoms to diagnosis was very long for most of our patients. The age of presentation ranged from 1 day to 10 years (median: 3 months). However, the age of diagnosis was significantly delayed, ranging from 1 month to 14 years (median: 14 months). Hematological abnormalities were the most common presentation, 89.7% (35/39) at the beginning and 94.9% (37/39) at diagnosis of SDS. Diarrhea was the second most common clinical abnormality at the time of diagnosis. 59% (23/39) of patients had a typical history of persistent chronic diarrhea. Furthermore, hepatic enlargement or elevation of transaminase occurred in 15 cases (38.5%). 56.4% patients (22/39) had a short stature, and 17.9% (7/39) patients showed developmental delay. Additionally, twenty patients had compound heterozygous pathogenic variants of c.258 + 2T > C and c.183_ 184TA > CT. Children with SDS in China had high incidence rates of chronic diarrhea, cytopenia, short stature, and liver damage. Furthermore, SBDS c.258 + 2T > C and c.183_ 184TA > CT were the most common pathogenic variants in patients with SDS. The diagnosis of SDS can be delayed if the clinical phenotype is not recognized by the health care provider.


Assuntos
Síndrome de Shwachman-Diamond , Humanos , China/epidemiologia , Criança , Pré-Escolar , Lactente , Masculino , Adolescente , Feminino , Recém-Nascido , Povo Asiático/genética , Mutação/genética , População do Leste Asiático
16.
DNA Res ; 31(3)2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38809753

RESUMO

Pueraria montana var. lobata (P. lobata) is a traditional medicinal plant belonging to the Pueraria genus of Fabaceae family. Pueraria montana var. thomsonii (P. thomsonii) and Pueraria montana var. montana (P. montana) are its related species. However, evolutionary history of the Pueraria genus is still largely unknown. Here, a high-integrity, chromosome-level genome of P. lobata and an improved genome of P. thomsonii were reported. It found evidence for an ancient whole-genome triplication and a recent whole-genome duplication shared with Fabaceae in three Pueraria species. Population genomics of 121 Pueraria accessions demonstrated that P. lobata populations had substantially higher genetic diversity, and P. thomsonii was probably derived from P. lobata by domestication as a subspecies. Selection sweep analysis identified candidate genes in P. thomsonii populations associated with the synthesis of auxin and gibberellin, which potentially play a role in the expansion and starch accumulation of tubers in P. thomsonii. Overall, the findings provide new insights into the evolutionary and domestication history of the Pueraria genome and offer a valuable genomic resource for the genetic improvement of these species.


Assuntos
Variação Genética , Genoma de Planta , Pueraria , Pueraria/genética , Filogenia , Evolução Molecular
18.
Zhonghua Yu Fang Yi Xue Za Zhi ; 47(6): 552-5, 2013 Jun.
Artigo em Zh | MEDLINE | ID: mdl-24113107

RESUMO

OBJECTIVE: To analyze the main fatty acids in edible marine fish from Zhoushan, Zhejiang province. METHODS: From September to October 2011, a total of 186 edible marine fish (31 species,6 individual fishes/species) were collected in local markets. Total lipids of edible part were extracted by Folch's method and fatty acids were separated and quantified by gas chromatographic after the homogenization of edible part. The differences of composition of n-6 polyunsaturated fatty acid (n-6 PUFA), n-3 polyunsaturated fatty acid (n-3 PUFA),saturated fatty acid (SFA) and monounsaturated fatty acid (MUFA) among fishes were analyzed. RESULTS: Among the 31 fishes, total lipids were highest in Auxis thazard ((13.2 ± 1.2)g/100 g edible part) and lowest in Thamnaconus modestus ((0.6 ± 0.1)g/100 g edible part). Total n-6 PUFA were highest in Mugil cephalus ((875.7 ± 506.4)mg/100 g edible part) and lowest in Seriola quinqueradiata((2.1 ± 1.9)mg/100 g edible part). Total n-3 PUFA were highest in Auxis thazard ((2623.8 ± 426.1)mg/100 g edible part) and lowest in Scoliodon sorrakowah ((82.0 ± 13.9)mg/100 g edible part). SFA were highest in Trachinotus ovatus((3014.9 ± 379.0)mg/100 g edible part) and lowest in Seriola quinqueradiata ((89.7 ± 5.8)mg/100 g edible part). MUFA were highest in Coilia nasus ((3335.7 ± 383.5)mg/100 g edible part) and lowest in Thamnaconus modestus ((32.1 ± 16.9)mg/100 g edible part). CONCLUSION: There were significant differences of composition of total lipids and of fatty acids among 31 edible marine fish species from Zhoushan.


Assuntos
Ácidos Graxos/análise , Peixes , Alimentos Marinhos/análise , Animais , China , Ácidos Graxos Insaturados/análise
19.
Zhongguo Zhong Xi Yi Jie He Za Zhi ; 33(8): 1064-8, 2013 Aug.
Artigo em Zh | MEDLINE | ID: mdl-24325055

RESUMO

OBJECTIVE: To find out a set of practical,objective, and quantitative laboratory indices of climacteric syndrome (CS) patients of Shen deficiency syndrome (SDS), thus studying the essence of SDS from the perspective of laboratory medicine. METHODS: Recruited were 40 CS patients of SDS (or of SDS as main syndrome) as the SDS group, while another 40 healthy subjects were recruited as the control group. Their serum samples were collected. Serum levels of total triiodothyronine (TT3), total thyroxine (TT4), free triiodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (TESTO), estradiol (E2), prolactin (PRL), progesterone (PROG), cortisol (CORT), immunoglobulin M (IgM), immunoglobulin G (lgG), Complement 3 (C3), complement hemolysis 50% (CH50), angiotensin converting enzyme (ACE), aldosterone (ALD), serum alkaline phosphatase (ALP), and bone Gla-protein (BGP) were measured by automatic electrochemical luminescence assay analyzer, automatic chemiluminescence assay analyzer, automatic biochemistry analyzer, and automatic enzyme-linked immunosorbent assay (ELISA) analyzer. The correlation between syndrome types and laboratory indices were judged by gradual discriminant analyses. RESULTS: (1) Compared with the control group,serum levels of CORT, TESTO, E2, TT3, FT3, FT4, TSH, C3, CH50, ALP, and BGP significantly decreased in the SDS group (P < 0.01, P < 0. 05), while FSH, LH, and ACE significantly increased (P < 0.05). (2) The index with stronger capacity for diagnosing CS patients of SDS was ranked from high to low as CH50, PROG, TSH, TESTO, BGP, CORT, and C3, with their contribution rate of the discriminant function being 95.9%. (3) Discriminant analysis equation of CS patients of SDS was Y = -25.904 - 0.468CH50 + 0.002PROG + 0.182TSH + 9.690TESTO + 1.015BGP + 0.016CORT + 33.581 C3. CONCLUSIONS: (1) CS patients of SDS were closely correlated with thyroid hypothalamus-pituitary-adrenal axis, hypothalamus-pituitary-adrenal axis, renin-renin-angiotensin-aldosterone system,the immune function, and bone formation, and etc. (2) CH50 might be of a high sensibility marker for diagnosing CS patients of SDS. (3) Discriminant analysis equations of laboratory medicine index may be used in preliminary diagnosis and auxiliary certificate of CS patients of SDS.


Assuntos
Climatério/metabolismo , Medicina Tradicional Chinesa/métodos , Tiroxina/sangue , Tri-Iodotironina/sangue , Estudos de Casos e Controles , Análise Discriminante , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Humanos , Hidrocortisona/sangue , Hormônio Luteinizante/sangue , Pessoa de Meia-Idade , Sistema Hipófise-Suprarrenal , Progesterona/metabolismo , Prolactina/sangue , Sistema Renina-Angiotensina , Testosterona/sangue , Tireotropina/sangue
20.
Biomolecules ; 13(1)2023 01 13.
Artigo em Inglês | MEDLINE | ID: mdl-36671554

RESUMO

Pueraria lobata is a traditional Chinese herb in which an isoflavone C-glucoside, namely puerarin, has received the utmost interest due to its medicinal properties. To date, the biogenesis of puerarin, especially its C-glucosyl reaction in the pathway, remains poorly understood. Moreover, the transcription factors (TFs) that regulate puerarin biosynthesis in P. lobata have not been reported. Here, we performed phytochemical studies on the different developmental stages of the root, stem, and leaf tissues of two P. lobata cultivars, which suggested that both the roots and stems of P. lobata were the sites of puerarin biosynthesis. RNA-sequencing was conducted with the root and stem tissues of the two cultivars under different stages, and the clean reads were mapped to the recently published genome of P. lobata var. thomsonii, yielding the transcriptome dataset. A detailed analysis of the gene expression data, gene coexpression network, and phylogeny proposed several C-GTs that likely participate in puerarin biosynthesis. The first genome-wide analysis of the whole MYB superfamily in P. lobata presented here identified a total of 123 nonredundant PlMYB genes that were significantly expressed in the analyzed tissues. The phylogenetic analysis of PlMYBs with other plant MYB proteins revealed strong PlMYB candidates that may regulate the biosynthesis of isoflavones, such as puerarin.


Assuntos
Isoflavonas , Pueraria , Transcriptoma/genética , Pueraria/genética , Pueraria/química , Filogenia , Raízes de Plantas/metabolismo , Perfilação da Expressão Gênica , Isoflavonas/química , Proteínas de Plantas/metabolismo
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