RESUMEN
Objective: To conduct a statistical analysis on the condition of patients with pneumoconiosis complicated with chronic pulmonary heart disease based on the Tei index, and to establish a relevant prediction model. Methods: In March 2022, a retrospective analysis of 226 patients diagnosed with pneumoconiosis in the Department of Occupational Disease of Yantai Yantaishan Hospital from January 2016 to January 2022 was conducted. The patients with pneumoconiosis complicated by pulmonary heart disease were included in the pulmonary heart disease group and others were included in the non-pulmonary heart disease group. logistic regression analysis was used to screen out the relevant factors and establish a risk prediction model. Hosmer-Lemeshow test was applied to determine the goodness of fit of the model, and the receiver operating characteristic (ROC) area under the curve (AUC) was used to evaluate the predictive effect of the model. Results: Among the 226 patients with pneumoconiosis, 58 patients had chronic pulmonary heart disease, accounting for 25.7% of the surveyed population. The logistic analysis showed that the course of disease, pneumoconiosis stage and Tei index were influencing factors of pneumoconiosis complicated with pulmonary heart disease (P<0.05). A risk prediction model for pneumoconiosis patients complicated with pulmonary heart disease was developed: Z=6.253X(1)+1.265X(2)+1.423X(3)+9.264, in which X(1) was the stage of pneumoconiosis, X(2) was the course of disease, and X(3) was the Tei index. Hosmer-Lemeshow test was used to evaluate the goodness of fit of the risk prediction model for pneumoconiosis patients complicated with pulmonary heart disease, the results indicated that the prediction model was in good agreement with the actual situation (χ(2)=11.59, P=0.254). The diagnostic ability of the model was evaluated by the ROC curve, and the results showed that its AUC was 0.897, the sensitivity was 0.947, and the specificity was 0.784. Conclusion: The course of disease, pneumoconiosis stage and Tei index are the influencing factors of pneumoconiosis complicated with pulmonary heart disease. The model constructed based on these factors has a good prediction effect, which can provide a basis for the early detection and intervention of pneumoconiosis complicated with pulmonary heart disease.
Asunto(s)
Neumoconiosis , Enfermedad Cardiopulmonar , Humanos , Enfermedad Cardiopulmonar/complicaciones , Estudios Retrospectivos , Neumoconiosis/complicaciones , Enfermedad Crónica , Proyectos de InvestigaciónRESUMEN
This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the family was sequenced. The detected mutation in EDA was investigated in 120 normal controls. A missense mutation (c.878T>G) in EDA was detected in 2 patients and 3 female carriers, but not in 4 unaffected members of the family. The mutation was not found in the 120 healthy controls and has not been reported previously. Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations.
Asunto(s)
Displasia Ectodermal Anhidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutación , Adulto , Alelos , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Secuencia de Bases , Análisis Mutacional de ADN , Displasia Ectodermal Anhidrótica Tipo 1/diagnóstico , Ectodisplasinas/química , Femenino , Humanos , Masculino , Linaje , Fenotipo , Adulto JovenRESUMEN
We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by denaturing high pressure liquid chromatography. A heterozygous single-base deletion (c.549delC) of RUNX2, which predicts a termination site at the 185th codon and leads to a stop in the runt domain of RUNX2 protein, was detected in both patients but not in the three unaffected members of the family. This mutation was also not found in 50 controls and has not been reported previously. We demonstrated that a novel mutation (c.549delC) of RUNX2 is associated with CCD in a Chinese family, adding to the repertoire of RUNX2 mutations related to CCD.
Asunto(s)
Pueblo Asiatico/genética , Displasia Cleidocraneal/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Eliminación de Secuencia/genética , Adolescente , Secuencia de Aminoácidos , Secuencia de Bases , China , Displasia Cleidocraneal/diagnóstico por imagen , Subunidad alfa 1 del Factor de Unión al Sitio Principal/química , Análisis Mutacional de ADN , Familia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Fenotipo , RadiografíaRESUMEN
A rapid pressurized liquid extraction (PLE) and high-performance liquid chromatography coupled with diode array detection and mass spectrometry (HPLC-DAD-MS) method for the simultaneous determination of one flavonoid (panasenoside), nine saponins (ginsenoside Rg1, Re, Rf, Rg2, Rb1, Rc, Rb2, Rb3 and Rd) and two polyacetylenes (panaxydol and panaxynol) in folium ginseng and radix ginseng was developed. A Prevail C(18) rocket column (33 mm x 7 mm, 3.0 microm) and gradient elution were used during the analysis. Flavonoid was quantified at 355 nm, and saponins and polyacetylenes were determined at 203 nm. The chromatographic peaks of 12 investigated compounds in samples were unambiguously identified by compared their UV spectra and/or MS data with the related reference compounds. All calibration curves showed good linearity (r>0.999) within the test ranges. The intra- and inter-day variations for 12 analytes were less than 1.17% and 2.17%, respectively. The developed method was successfully applied to determine the investigated compounds in 10 samples of radix ginseng and folium ginseng, respectively. The result showed that PLE combined with rocket column HPLC analysis could provide a rapid method for analysis of compounds in traditional Chinese medicines (TCMs), which is helpful to comprehensive evaluation of quality of radix ginseng and folium ginseng.
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Fraccionamiento Químico/métodos , Cromatografía Líquida de Alta Presión/métodos , Flavonoides/análisis , Espectrometría de Masas/métodos , Panax/química , Poliinos/análisis , Saponinas/análisis , Espectrometría de Masas/instrumentaciónRESUMEN
Three heteroglycans, T1a, T1b, and T1c, have been isolated from the body of Tremella fuciformis Berk. They are composed of mannose (Man), xylose (Xyl), glucose (Glc), fucose (Fuc), and glucuronic acid (GlcA). According to methylation analysis and partial acidic hydrolysis the main chains of T1a, T1b, and T1c consisted of (1-->3)-linked Man, which was branched at the 2, 4, or 6 positions. The branching points were linked with nonreducing terminal GIcA-residues or (1-->6)-linked glucan-chains. Molecular weights of the three heteroglycans are 53,000, 18,000, and 12,000 D respectively, but they undergo self-aggregation in water. T1a-T1c induce human monocytes to produce interleukin-1 (IL-1), interleukin-6 (IL-6), and tumor necrosis factor (TNF) in vitro. Acidic hydrolysate fractions of T1a (T1a-1, 2, 3, 4, 5) with molecular weight from 53,000 to 1,000 D, also induce human monocytes to produce IL-6 as efficient as T1a.
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Citocinas/biosíntesis , Linfocitos/inmunología , Plantas Comestibles , Plantas Medicinales , Polisacáridos/química , Carbohidratos/análisis , Células Cultivadas , Humanos , Interleucina-1/biosíntesis , Interleucina-6/biosíntesis , Linfocitos/efectos de los fármacos , Medicina Tradicional China , Polisacáridos/aislamiento & purificación , Polisacáridos/farmacología , Factor de Necrosis Tumoral alfa/biosíntesisRESUMEN
Four anti-complementary neutral (GL-NIa and GL-NIb) and acidic (GL-AIa and GL-AIb) polysaccharides were purified from the leaves of Panax ginseng C. A. Meyer. Only GL-NIa and GL-AIa exhibited potent anti-complementary activities at low concentrations probably through the alternative complement pathway. Glycosyl linkage analysis demonstrated that GL-NIa mainly consisted of arabinogalactan moieties, whereas GL-NIb contained large amounts of (1----4)-linked glucosyl residues. Beta-Elimination indicated that GL-AIa and GL-AIb were pectic polysaccharides consisting of a rhamnogalacturonan core with neutral side chains. GL-AIa reacted strongly with beta-glucosyl-Yariv antigen, GL-NIa reacted weakly, whereas GL-NIb and GL-AIb showed no reaction with the antigen.
Asunto(s)
Proteínas Inactivadoras de Complemento , Panax/análisis , Plantas Medicinales , Polisacáridos/farmacología , Secuencia de Carbohidratos , Carbohidratos/análisis , Proteínas Inactivadoras de Complemento/química , Proteínas Inactivadoras de Complemento/aislamiento & purificación , Datos de Secuencia Molecular , Polisacáridos/química , Polisacáridos/aislamiento & purificaciónRESUMEN
The three potent anti-complementary polysaccharides, GL-PI, GL-PII, and GL-PIV, isolated from the leaves of Panax ginseng C. A. Meyer, were subjected to base-catalysed beta-elimination in the presence of sodium borodeuteride or enzymic digestion with endo-alpha-D-(1----4)-polygalacturonase. beta-Eliminative degradation of GL-PI and GL-PII each gave neutral (IN and IIN) and acidic (IA and IIA) fractions. Each fraction N consisted of Ara, Rha, Gal, and Glc, whereas each fraction A comprised a large proportion of GalA in addition to Rha, Gal, Glc, and GLcA. Methylation analysis and g.l.c.-m.s. showed that each fraction IN and IIN contained Rha-(1----2)-Rha-ol-1-d, Rha-(1----4)-Rha-ol-1-d, Ara-(1----4)-Rha-ol-1-d, Gal-(1----4)-Rha-ol-1-d, Gal-(1----6)-Gal-ol-1-d, and GlcA-(1----4)-Rha-ol-1-d, and that IA and IIA contained Rha----Rha-ol-1-d, HexA----Rha-ol-1-d, and HexA----Rha----Rha-ol-1-d. Methylation analysis indicated that IN and IIN also contained high-molecular-weight 6-linked galactan and 4-linked glucan, and that IA and IIA consisted mainly of 2-linked Rha, 4-linked GalA, and terminal and 6-linked Gal. IIA contained more 2-linked Rha than IA. Endo-alpha-D-(1----4)-polygalacturonase-mediated digestion of GL-PIV produced a high-molecular-weight fraction (PG-1) which was rich in neutral sugars, fragments of intermediate size (PG-2), and oligosaccharides (PG-3). PG-1 contained a rhamnogalacturonan core, galactan (which mainly comprised terminal, 6-linked, and 4,6-disubstituted Gal), and 4-linked glucans. PG-2 contained (1----4)-linked alpha-galacturonan partially branched at position 2 or 3 and a rhamnogalacturonan core in addition to small proportions of Gal and Glc. PG-3 contained large proportions of oligogalacturonides.
Asunto(s)
Proteínas Inactivadoras de Complemento , Panax/análisis , Plantas Medicinales , Polisacáridos , Secuencia de Carbohidratos , Cromatografía de Gases y Espectrometría de Masas , Metilación , Datos de Secuencia Molecular , Oxidación-Reducción , Poligalacturonasa , Alcoholes del AzúcarRESUMEN
Water-soluble and alkaline-soluble polysaccharide fractions, prepared from roots and leaves of PANAX GINSENG C.A. Meyer, were fractionated into strongly acidic, weakly acidic, and neutral polysaccharide fractions by cetyltrimethyammonium bromide, respectively. The roots contained a larger amount of crude polysaccharides than the leaves. These polysaccharide fractions showed different chemical properties, and it was suggested that the roots mainly contained pectins and glucans whereas the leaves mainly contained pectins and heteroglycans. The three water-soluble polysaccharide fractions from the leaves showed higher anti-complementary activity than all corresponding fractions from the roots. However, the three alkaline-soluble polysaccharide fractions from the leaves showed weak activity. Strongly acidic polysaccharide fractions from either roots or leaves decreased the activity after the treatment with periodate indicating the carbohydrate moiety may contribute to the activity.