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There are three main classes of actin nucleation factors: Arp2/3 complexes, Spire and Formin. Spire assembles microfilaments by nucleating stable longitudinal tetramers and binding actin to the growing end of the microfilament. As early as 1999, Wellington et al. identified Spire as an actin nucleating agent, however, over the years, most studies have focused on Arp2/3 and Formin proteins; there has been relatively less research on Spire as a member of the actin nucleating factors. Recent studies have shown that Spire is involved in the vesicular transport through the synthesis of actin and plays an important role in neural development. In this paper, we reviewed the structure, expression and function of Spire, and its association with disease in order to identify meaningful potential directions for studies on Spire.
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Actinas , Proteínas de Microfilamentos , Proteínas Nucleares , Proteínas de Microfilamentos/metabolismo , Proteínas de Microfilamentos/fisiología , Humanos , Animales , Actinas/metabolismo , Actinas/fisiología , Complejo 2-3 Proteico Relacionado con la Actina/metabolismo , Citoesqueleto de Actina/metabolismo , Citoesqueleto de Actina/fisiologíaRESUMEN
BACKGROUND: Hemophilia A is caused by a deficiency of coagulation factor VIII in the body due to a defect in the F8 gene. The emergence of CRISPR/Cas9 gene editing technology will make it possible to alter the expression of the F8 gene in hemophiliacs, while achieving a potential cure for the disease. METHODS: Initially, we identified high-activity variants of FVIII and constructed donor plasmids using enzymatic digestion and ligation techniques. Subsequently, the donor plasmids were co-transfected with sgRNA-Cas9 protein into mouse Neuro-2a cells, followed by flow cytometry-based cell sorting and puromycin selection. Finally, BDD-hF8 targeted to knock-in the mROSA26 genomic locus was identified and validated for FVIII expression. RESULTS: We identified the p18T-BDD-F8-V3 variant with high FVIII activity and detected the strongest pX458-mROSA26-int1-sgRNA1 targeted cleavage ability and no cleavage events were found at potential off-target sites. Targeted knock-in of BDD-hF8 cDNA at the mROSA26 locus was achieved based on both HDR/NHEJ gene repair approaches, and high level and stable FVIII expression was obtained, successfully realizing gene editing in vitro. CONCLUSIONS: Knock-in of exogenous genes based on the CRISPR/Cas9 system targeting genomic loci is promising for the research and treatment of a variety of single-gene diseases.
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Sistemas CRISPR-Cas , Factor VIII , Hemofilia A , Animales , Ratones , Proteína 9 Asociada a CRISPR/genética , Edición Génica/métodos , Hemofilia A/genética , Hemofilia A/terapia , ARN Guía de Sistemas CRISPR-Cas , Factor VIII/biosíntesis , Factor VIII/genéticaRESUMEN
Trichomonas vaginalis (T. vaginalis) could cause trichomoniasis through sexual transmission, which was globally distributed. In this study, the prevalence and phylogenetic analyses of T. vaginalis among men in Xinxiang were conducted. From October 2018 to December 2019, a total of 634 male clinical samples were collected, including 254 samples of semen, 43 samples of prostate fluid, and 337 samples of urine. These samples were examined by nested PCR and a total of 32 (5.05%) T. vaginalis-positive samples were detected. Among these samples, the positive rates of T. vaginalis in semen, prostate fluid, and urine were 7.87% (20/254), 4.65% (2/43), and 2.97% (10/337), respectively. Three actin genes were successfully isolated and sequenced from the 32 positive DNA samples, and the analysis of the sequence and phylogenetic tree showed that the three actin gene sequences exhibited 99.7%-100% homology to the published actin gene sequence (EU076580) in NCBI, and the T. vaginalis strains in the three positive samples were identified as genotype E. Our results demonstrate a notable genotype of T. vaginalis in the male population and provide insight into the performance of these genetic markers in the molecular epidemiology of trichomoniasis. However, further studies are needed to research the association between the genotype and the pathogenicity of T. vaginalis.
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INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by excessive inflammatory responses. This study explored the association between laboratory characteristics and outcomes in adult patients with HLH. METHODS: The adult patients diagnosed with HLH at the Second Hospital of Shanxi Medical University from September 2016 to September 2021 were retrospectively analyzed in this study. RESULTS: A total of 90 HLH patients were included. Among them, 60% were males, with a median age at diagnosis of 54 years. More than 85% of HLH patients presented with fever, splenomegaly, and cytopenias. IL-10 and IL-6 were elevated in 93.3% and 91.1% of patients, respectively. Elevated IL-10 levels were associated with lower platelet counts (r = -0.37, p < 0.001). Infections were seen in 46.7% (42/90) of cases. 29 patients with malignancy-associated HLH had T- or NK-cell (n = 16) or B-cell (n = 12) lymphoma. Autoimmune diseases accounted for 21.1% (19/90). Treatment was variable. In total, 36 patients survived (40%). The median overall survival (OS) was 1.5 months (95% confidence intervals [CI]: 0.2-2.8 months), with a 1-year OS of 40.9%. Patients with autoimmune diseases had markedly longer survival than those triggered by infection and malignancy (p < 0.001). Multivariate Cox regression analysis indicated that treatment delays (hazard ratios 0.36, 95% CI: 0.14-0.94, p = 0.036), platelet count (2.33, 1.30-4.18, p = 0.005), and IL-10 (2.07, 1.16-3.68, p = 0.014) were independent risk factors for poor outcome. CONCLUSION: Infection and lymphoma are the leading causes of HLH in adult patients with heterogeneous clinical manifestations. Survival of adult HLH is frustrating, especially those associated with malignancies. Besides, elevated IL-10 levels were associated with lower platelet counts, and these two markers were independent risk factors for poor prognosis. Earlier treatment led to better outcomes.
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Enfermedades Autoinmunes , Linfohistiocitosis Hemofagocítica , Linfoma , Neoplasias , Masculino , Humanos , Adulto , Persona de Mediana Edad , Femenino , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/complicaciones , Interleucina-10 , Recuento de Plaquetas , Estudios Retrospectivos , Pronóstico , Linfoma/complicaciones , Enfermedades Autoinmunes/complicacionesRESUMEN
Trichomonas vaginalis (T. vaginalis) infection is the most common non-viral sexually transmitted disease (STD) in the world. It can cause male reproductive dysfunction and infertility. However, the pathogenic mechanism is not clear. In this study, the excretory secretory proteins of T. vaginalis (TvESPs) were collected, concentrated, and sterilized. After sperm co-cultured with TvESPs, the survival rate and motility of sperms were analyzed by seminal routine examination, and the results showed that the TvESPs could significantly reduce the survival rate and motility of sperms. Fluorescence staining displayed that TvESPs could destroy the integrity of sperm acrosomes. Flow cytometry indicated that TvESPs induced sperm apoptosis. By mouse in vitro fertilization, we confirmed that TvESPs could significantly reduce the fertilization ability of sperms and negatively affect the development of the fertilized ovum. Via semi-quantitative analysis, we found that the apoptosis-related p27, SMAC, p53, BAX, BCL-2, XIAP, and BCL-W molecules were down-regulated in mouse sperm cells after interaction between the sperms and TvESPs, which played an important role in regulating sperm apoptosis. In conclusion, our study showed that T. vaginalis degraded semen quality and negatively affected male fertility by TvESPs. TvESPs may damage sperms by breaking the balance between sperm pro-apoptotic and anti-apoptotic molecules. This study proves that T. vaginalis infection is a risk factor for infertility.
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Infertilidad , Trichomonas vaginalis , Masculino , Animales , Ratones , Análisis de Semen , Semen , FertilidadRESUMEN
Epilepsy is a neurological disorder caused by abnormally elevated neuronal firing and excitability. Spire2, also known as the nucleating factor of F-actin, plays an important role in long-range vesicle transport. This study showed that Spire2 was highly expressed in neurons in the cortex and hippocampus. Its knockdown significantly reduced the initiation current of the evoked action potential and the frequency of action potential, suggesting that Spire2 knockdown inhibits the threshold current of the neuron. In the cortex of patients with refractory temporal lobe epilepsy (TLE), Spire2 expression was significantly reduced. Decreased expression levels of Spire2 were also observed in kainic acid (KA) and pentylenetetrazole (PTZ) animal models. In the KA and PTZ models, Spire2-knockdown mice showed significantly increased seizures and shortened intervals between seizures, with a tendency to increase seizure duration. In contrast, Spire2-overexpressing mice showed reduced numbers of spontaneous seizures. In conclusion, this study revealed a significantly decreased expression of Spire2 in the brain tissues of epileptic individuals and an inhibitory role for this protein in the development of epilepsy. In addition, knockdown of Spire2 aggravated abnormal firing in epileptic mice, while its overexpression had the opposite effect. These findings provide new insights into the mechanism of epileptogenesis.
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Epilepsia del Lóbulo Temporal , Epilepsia , Animales , Ratones , Ratones Endogámicos C57BL , Modelos Animales de Enfermedad , Epilepsia/inducido químicamente , Epilepsia/metabolismo , Epilepsia del Lóbulo Temporal/inducido químicamente , Epilepsia del Lóbulo Temporal/metabolismo , Pentilenotetrazol/farmacología , Convulsiones/metabolismo , Ácido Kaínico , Hipocampo/metabolismoRESUMEN
BACKGROUND: Trichomonas vaginalis (T. vaginalis) is an extracellular flagellated protozoan parasitizing the human genital and urinary tracts. T. vaginalis infection impacts human reproductive function, but whether it causes infertility is still a matter of debate. METHODS: In this work, we consulted 205 relevant articles, which were classified into three categories: epidemiological investigations (100), review articles (43), and research articles (62). RevMan 5.4 was used to conduct a meta-analysis of the articles reporting epidemiological investigations comparing the incidence of T. vaginalis infection between infertile and fertile groups. Review and research articles were used to summarize the pathogenesis of infertility caused by T. vaginalis. RESULTS: The results indicated that rate of T. vaginalis infection in the infertile group was significantly higher than that in the fertile group. Moreover, the epidemiological surveys showed that the infertility rates of population infected with T. vaginalis were significantly higher than that of population without T. vaginalis infection. Nine out of ten (90%) related review articles stated that T. vaginalis infection causes infertility, and the review and research articles indicated the main pathogenic mechanisms of infertility caused by T. vaginalis were as follows: T. vaginalis impairs sperm quality, resulting in infertility; the immune response triggered by T. vaginalis infection impacts human reproductive function. CONCLUSION: Our results confirm that there is a correlation between T. vaginalis infection and infertility, and T. vaginalis infection can lead to infertility. The study provides a foundation for further investigations into its pathogenesis.
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Infertilidad , Tricomoniasis , Trichomonas vaginalis , Fertilidad , Humanos , Infertilidad/complicaciones , Masculino , Reproducción , Semen , Tricomoniasis/complicaciones , Tricomoniasis/epidemiologíaRESUMEN
This study aims to establish a method for the component content determination and fingerprint evaluation of Mori Cortex, fried Mori Cortex and its standard decoction, and to reveal the quality transfer law among the three based on transfer rate, extraction rate, and fingerprint similarity.Fifteen representative batches of Mori Cortex decoction pieces were collected to prepare fried Mori Cortex and its standard decoction.UPLC-PDA was employed to establish the content determination method and fingerprint.The established UPLC method and fingerprint could be applied to the detection of Mori Cortex, fried Mori Cortex and its standard decoction.The UPLC fingerprints of the 15 batches of Mori Cortex and fried Mori Cortex had good similarity(>0.9) and the same common peaks.However, only one characteristic peak(mulberroside A) could be observed in the fingerprint of fried Mori Cortex standard decoction, which indicated that the corresponding components of other common peaks in the fingerprint of Mori Cortex had low content in the water extract.The extraction rates of mulberroside A from Mori Cortex, fried Mori Cortex and its standard decoction were 1.49%-2.00%, 1.62%-2.27% and 0.75%-1.29%, respectively.Mulberroside A showed the transfer rate of 103.7%-116.3% from Mori Cortex to fried Mori Cortex and 45.7%-56.9% from fried Mori Cortex to its standard decoction.The extraction rates of the 15 batches of fried Mori Cortex standard decoctions were 14.7%-19.5%.All the above indicators were within±30% of the mean value.This study established a method for the determination of mulberroside A content and fingerprint of Mori Cortex, fried Mori Cortex and its standard decoction, and clarified the quality transfer law among the three.It established the method for quality evaluation of Mori Cortex and fried Mori Cortex and can provide reference for the whole-process quality control in the preparation of the agents containing fried Mori Cortex.
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Medicamentos Herbarios Chinos , Cromatografía Líquida de Alta Presión , Control de CalidadRESUMEN
Agomelatine was a novel and melatonergic antidepressant. The present study was conducted to find out whether age was an important factor for agomelatine in treating depressed type 2 diabetes mellitus (T2DM) patients. In total, 193 depressed T2DM patients were included. There were 84 patients ranged from 27 years old to 49 years old (age phase I) (n = 44 receiving agomelatine, n = 40 receiving paroxetine or fluoxetine), and 109 patients ranged from 50 years old to 70 years old (age phase II) (n = 56 receiving agomelatine, n = 53 receiving paroxetine or fluoxetine). The Hamilton Depression Rating Scale (HDRS) score, Hamilton Anxiety Rating Scale (HARS) score, fasting plasma glucose (FPG), hemoglobin A1c (HbA1c) level and body mass index (BMI) were assessed after 12 weeks treatment. After treatment, we found that among patients in age phase I, there were no significant differences in final average HDRS score, HARS score, FPG, HbA1c level, BMI, response rate and remission rate between the two groups. However, among patients in age phase II, compared to patients receiving paroxetine or fluoxetine, patients receiving agomelatine had the significantly lower average HDRS score, HARS score, HbA1c level and BMI, and significantly higher response rate and remission rate. The incidence of treatment-related adverse events was similar between the two groups in both age phases. These results suggested that age was an important factor for agomelatine in treating depressed T2DM patients. Compared to paroxetine/fluoxetine, agomelatine might be more appropriate for elderly depressed T2DM patients.
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Acetamidas/uso terapéutico , Depresión/tratamiento farmacológico , Diabetes Mellitus Tipo 2 , Fluoxetina/uso terapéutico , Paroxetina/uso terapéutico , Adulto , Anciano , Envejecimiento , Antidepresivos de Segunda Generación/uso terapéutico , Femenino , Humanos , Hipnóticos y Sedantes/uso terapéutico , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Retinopathy of prematurity (ROP) is a potentially blinding eye disorder that primarily affects premature infants. Although a variety of managements are available for ROP, the efficacy is still unsatisfied. Studies have suggested that laser therapy (LT) may benefit ROP. However, no systematic review has addressed this topic. Thus, this systematic review aims to evaluate the efficacy and safety of LT for ROP. METHODS: A comprehensive literature search will be performed from electronic databases (PubMed, EMBASE, AMED, Cochrane Library, WorldSciNet, Science online, Web of Science, Allied and Complementary Medicine Database, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure) and other sources. The time is from the database construction to the present. Two investigators will independently carry out literature selection, data extraction and quality assessment. We will utilize RevMan 5.3 software for statistical analysis. Data synthesis will be conducted either as a narrative summary or meta-analysis. Statistical heterogeneity will be appraised using I test. If heterogeneity is low, pooled estimates will be calculated using a fixed-effects model. Otherwise, we will utilize a random-effects model to pool the data. RESULTS: This study will provide up-to-date evidence on the efficacy and safety of LT for ROP, which may help to assess whether LT is effective and safe for ROP. CONCLUSION: This study will provide helpful evidence to determine whether or not LT is effective and safe for ROP, which may benefit both patients and clinicians. STUDY REGISTRATION: osf.io/3tmnf.
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Terapia por Láser , Retinopatía de la Prematuridad/cirugía , Humanos , Recién Nacido , Recien Nacido Prematuro , Terapia por Láser/efectos adversos , Terapia por Láser/métodos , Ensayos Clínicos Controlados Aleatorios como Asunto , Resultado del TratamientoRESUMEN
Trichomoniasis is caused by Trichomonas vaginalis (T. vaginalis), which is a widespread and serious sexually transmitted pathogen in humans. The procedure of T. vaginalis adherence to the host cell is the precondition for T. vaginalis parasitism and pathogenicity. The AP33 adhesin of T. vaginalis (TvAP33) plays a key role in the process of adhesion. In this study, the specific primers for polymerase chain reaction (PCR) were designed based on the sequence of TvAP33 (GenBank Accession No. U87098.1) to amplify the open reading frame (ORF), and the ORF was inserted into pET-32a (+) to produce recombinant TvAP33 (rTvAP33). The sequence analysis indicated that the TvAP33 gene encoded a protein of 309 amino acids with 32.53 kDa, and the protein was predicted to have a high antigen index. Western blotting assay showed rTvAP33 was successfully recognized by the sera of mice experimentally infected with T. vaginalis, while native TvAP33 in the somatic extract of T. vaginalis trophozoite was as well detected by sera from rats immunized with the rTvAP33. Immunofluorescence analysis using an antibody against rTvAP33 demonstrated that the protein was expressed and located on the surface of T. vaginalis trophozoites. The recombinant protein was emulsified in Freund's adjuvant and used to immunize BALB/C mice three times at days 0, 14, and 28. The result of animal challenge experiments revealed the levels of IgG, IgG1, and IgG2a, and IL-4, IL-10, and IL17 among rTvAP33 vaccinated animals were integrally increased. Moreover, the rTvAP33 vaccinated animals were apparently prolonged survival time (26.45 ± 4.10) after challenge infection with this parasite. All these results indicated that TvAP33 could be used as vaccine candidate antigen to induce cell-mediated and humoral immunity.
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BACKGROUND: The purpose of this study is to raise nonjudgmental awareness and attention to current experience of high-frequency oscillatory ventilation (HFOV) for the treatment of neonatal meconium aspiration syndrome (NMAS). METHODS: We will comprehensively search literature from the databases of Cochrane Library, PubMed, Embase, Web of Science, WorldSciNet, PsycINFO, Allied and Complementary Medicine Database, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure from inception until July 1, 2019 without language limitation. We will also handle searching the bibliographies of all relevant studies found for unpublished literatures. Statistical analysis will be conducted using RevMan 5.3 software. RESULTS: The outcomes include function inhaled oxygen concentration, oxygenation index, arterial oxygen tension/alveolar arterial oxygen tension, partial pressure of oxygen, partial pressure of carbon dioxide, transcutaneous arterial oxygen saturation, duration of hospitalization, and adverse events. CONCLUSION: This study will provide an exhaustive view of HFOV for treating infants with NMAS. PROSPERO REGISTRATION NUMBER: PROSPERO CRD42019140520.
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Ventilación de Alta Frecuencia , Síndrome de Aspiración de Meconio/terapia , Humanos , Recién NacidoRESUMEN
Mammalian Ste20-like kinase 1 (Mst1) is associated with cell apoptosis. In the current study, we explored the regulatory effects of Mst1 on squamous cell carcinoma of the head and neck (SCCHN) in vitro. SCCHN Cal27 cells and Tu686 cells were transfected with adenovirus-loaded Mst1 to detect the role of Mst1 in cell viability. Then, siRNA against Drp1 was transfected into cells to evaluate the influence of mitochondrial fission in cancer survival. Our data illustrated that Mst1 overexpression promoted SCCHN Cal27 cell and Tu686 cell death via activating mitochondria-related apoptosis. Cells transfected with adenovirus-loaded Mst1 have increased expression of DRP1 and higher DRP1 promoted mitochondrial fission. Active mitochondrial fission mediated mitochondrial damage, as evidenced by increased mitochondrial oxidative stress, decreased mitochondrial energy production, and reduced mitochondrial respiratory complex function. Moreover, Mst1 overexpression triggered mitochondria-dependent cell apoptosis via DRP1-related mitochondrial fission. Further, we found that Mst1 overexpression controlled mitochondrial fission via the ß-catenin/DRP1 pathways; inhibition of ß-catenin and/or knockdown of DRP1 abolished the pro-apoptotic effects of Mst1 overexpression on SCCHN Cal27 cells and Tu686 cells, leading to the survival of cancer cells in vitro. In sum, our results illustrate that Mst1/ß-catenin/DRP1 axis affects SCCHN Cal27 cell and Tu686 cell viability via controlling mitochondrial dynamics balance. This finding identifies Mst1 activation might be an effective therapeutic target for the treatment of SCCHN.
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Apoptosis/fisiología , Supervivencia Celular/fisiología , Dinaminas/metabolismo , Dinámicas Mitocondriales/fisiología , Proteínas Serina-Treonina Quinasas/fisiología , beta Catenina/metabolismo , Línea Celular Tumoral , Células HEK293 , Humanos , Péptidos y Proteínas de Señalización IntracelularRESUMEN
Sustained treatment with glucocorticoids (GCs) has frequently been observed to impair skeletal development. However, the influence of GCs on chondrocytes, which have a key role in skeletal development, has been rarely reported. HCS2/8 cells were selected as an in vitro model of human chondrocytes to assess the apoptosis induced by GCs and determine the role of the microRNA1792 (miR1792) cluster in the regulation of apoptosis. It was demonstrated that dexamethasone (Dex) was able to induce apoptosis and high levels of expression of apoptosisassociated molecules in HCS2/8 chondrocytic cells, and that expression of the miR1792 cluster was inhibited during Dexinduced apoptosis. In conclusion, the present study suggested that inhibition of the expression of the miR1792 cluster contributed to the Dexinduced apoptosis in chondrocytes. The results suggest that microRNAs have an important role in glucocorticoidinduced impairment to chondrocytes.
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Apoptosis/efectos de los fármacos , Dexametasona/toxicidad , MicroARNs/metabolismo , Caspasa 3/genética , Caspasa 3/metabolismo , Línea Celular , Condrocitos/citología , Condrocitos/metabolismo , Humanos , MicroARNs/antagonistas & inhibidores , Mifepristona/farmacología , Oligonucleótidos Antisentido/metabolismo , ARN Largo no Codificante , Proteína X Asociada a bcl-2/genética , Proteína X Asociada a bcl-2/metabolismoRESUMEN
With the development of economy, the health of river ecosystem is severely threatened because of the increasing effects of human activities on river ecosystem. In this paper, the authors assessed the river ecosystem health in aspects of chemical integrity and biological integrity, using the criterion in water quality, nutrient, and benthic macroinvertebrates of 73 samples in Haihe River Basin. The research showed that the health condition of river ecosystem in Haihe River Basin was bad overall since the health situation of 72. 6% of the samples was "extremely bad". At the same time, the health situation in Haihe River Basin exhibited obvious regional gathering effect. We also found that the river water quality was closely related to human activities, and the eutrophication trend of water body was evident in Haihe River Basin. The biodiversity of the benthic animal was low and lack of clean species in the basin. The indicators such as ammonia nitrogen, total nitrogen and total phosphorus were the key factors that affected the river ecosystem health in Haihe River Basin, so the government should start to curb the deterioration of river ecosystem health by controlling these nutrients indicators. For river ecosystem health assessment, the multi-factors comprehensive evaluation method was superior to single-factor method.
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Ecosistema , Monitoreo del Ambiente , Ríos , Calidad del Agua , China , Eutrofización , Nitrógeno/análisis , Fósforo/análisisRESUMEN
OBJECTIVE: To comprehend the abnormalities of JAK2, c-mp, EPOR, MPW515L/K and TET2 genes in patients with familial myeloproliferative neoplasm (MPN) and their relatives, and to explore mechanism of MPN pathogenesis. METHODS: The complete blood counts of 2 brothers diagnosed with MPN in out hospital and their family members (15 persons in together) were performed, and bone marrow (BM) examinations in patients with abnormal blood count were performed PCR, DNA sequencing were used to evaluate the expression of related genes. RESULTS: The elder brother was diagnosed with essential thrombocythemia (ET), the younger one was polycythemia vera (PV), and others had no clinical manifestation. The third MPN patient was diagnosed based on the blood count and BM examination. The PCR and sequencing results showed that there was JAK2V617F mutation in 3 patients, the elder brother was homozygous, the younger and their father were heterozygous. There were no BCR/ABL fusion gene and c-mp, EPOR, MPW515L/K, TET2 gene mutation in any member. By sequencing the full-length cDNA of familia JAK2 gene, we found that G380A heterozygous mutation was detected in 2 patients, which changed glycine at 127 into aspartic acid, C489T mutation was detected in 13 patients, G2490A mutation in 14, but both of them were synonymous mutations. CONCLUSIONS: JAK2V617F is one of the important indicators to diagnose MPN. The JAK2V617F mutation of this family involves two generations. For newly diagnosed MPN patients, their family members should consider screening, so some familial patients can be diagnosed as early as possible. Gene mutation besides JAK2V627F can be detected by sequencing the full-length of JAK2 gene.
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Janus Quinasa 2/genética , Trastornos Mieloproliferativos/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Persona de Mediana Edad , Policitemia Vera/genética , Análisis de Secuencia de ADN , Relaciones entre Hermanos , Trombocitemia Esencial/genética , Adulto JovenRESUMEN
INTRODUCTION: Recent genome-wide and candidate gene association studies in large numbers of systemic lupus erythematosus (SLE) patients have suggested approximately 30 susceptibility genes. These genes are involved in three types of biological processes, including immune complex processing, toll-like receptor function and type I interferon production, and immune signal transduction in lymphocytes, and they may contribute to the pathogenesis of SLE. To better understand the genetic risk factors of SLE, we investigated the associations of seven SLE susceptibility genes in a Chinese population, including FCGR3A, FCGR2A, TNFAIP3, TLR9, TREX1, ETS1 and TNIP1. METHODS: A total of 20 SNPs spanning the seven SLE susceptibility genes were genotyped in a sample of 564 unrelated SLE patients and 504 unrelated healthy controls recruited from Yunnan, southwestern China. The associations of SNPs with SLE were assessed by statistical analysis. RESULTS: Five SNPs in two genes (TNFAIP3 and ETS1) were significantly associated with SLE (corrected P values ranging from 0.03 to 5.5 × 10(-7)). Through stratified analysis, TNFAIP3 and ETS1 showed significant associations with multiple SLE subphenotypes (such as malar rash, arthritis, hematologic disorder and antinuclear antibody) while TNIP1 just showed relatively weak association with onset age. The associations of the SNPs in the other four genes were not replicated. CONCLUSIONS: The replication analysis indicates that TNFAIP3, ETS1 and TNIP1 are probably common susceptibility genes for SLE in Chinese populations, and they may contribute to the pathogenesis of multiple SLE subphenotypes.
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Proteínas de Unión al ADN/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Lupus Eritematoso Sistémico/genética , Proteínas Nucleares/genética , Proteína Proto-Oncogénica c-ets-1/genética , Adulto , Pueblo Asiatico/genética , China , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Desequilibrio de Ligamiento , Lupus Eritematoso Sistémico/etnología , Lupus Eritematoso Sistémico/patología , Masculino , Persona de Mediana Edad , Fenotipo , Polimorfismo de Nucleótido Simple , Proteína 3 Inducida por el Factor de Necrosis Tumoral alfa , Adulto JovenRESUMEN
Host plant specificity depends on recognition of the host and the ability to discriminate it from nonhost plants. Chilo suppressalis (Walker) (Lepidoptera: Crambidae), an important insect pest of rice, is considered to be polyphagous, although few papers have ever reported infestation of C. suppressalis on most of the recorded hosts. The present investigation was designed to test whether two important gramineous crops, wheat and corn, are host plants of C. suppressalis based on the host-plant finding process in cage and Y-tube olfactometer tests, oviposition and egg hatching, and larval feeding and survival. In the cage tests, gravid C. suppressalis females did not differentiate rice plants from wheat or corn plants when only visual cues were involved, but were more attracted to rice plants when only olfactory cues or both vision and olfaction were present. The Y-tube olfactometer tests further confirmed that the females did not prefer wheat or corn plants, and revealed that they responded equally to clean air and odors from wheat or corn plants. Under no-choice and choice condition alike, the females laid eggs on a lower proportion of wheat and corn plants and egg number and hatching rate were significantly reduced on wheat and/or corn plants than on rice plants. Larval feeding was not observed in wheat and lower in corn than in rice plants, and no pupae or surviving larvae were collected from wheat and corn plants. The results suggest that wheat and corn are not host plants of C. suppressalis. These findings are discussed in context of host-finding process in C. suppressalis and management of resistance to transgenic Bt rice.
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Interacciones Huésped-Parásitos , Mariposas Nocturnas/fisiología , Triticum/parasitología , Zea mays/parasitología , Animales , Señales (Psicología) , Femenino , Herbivoria , Larva/fisiología , Masculino , Oviposición , Óvulo/fisiología , OlfatoRESUMEN
We developed 12 polymorphic microsatellite markers for the rice stem borer Chilo suppressalis (Walker). These loci were screened for 96 individuals from eight populations across China. The total number of alleles ranged from 3 to 33 and the expected heterozygosity at these loci ranged from 0.131 to 0.671. These molecular markers will be useful for fully investigating the population structure and host preference of C. suppressalis at fine spatial scales.
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Based on the land use/cover data of 1995 and 2004, and by using ecosystem service value per unit area of different terrestrial ecosystem types in China, the dynamic changes of ecosystem service value in Pinggu District of Beijing were analyzed. The results showed that the total ecosystem service value of Pinggu District was decreased from 3.291 x 10(9) yuan in 1995 to 3.044 x 10(9) yuan in 2004, with a change rate of -7.50%. The decrease in the areas of farmland and waters was the primary cause of the loss in ecosystem service function. Aquatic ecosystem had the highest ecological service value per unit area, while forest ecosystem gave the greatest contribution to the total ecosystem service value. The dynamic changes of the ecological service value revealed the conspicuously irrationality of land use structure in the District. The area proportions of forestland, farmland, and waters should be increased, and the conversion from farmland to constructive land should be controlled strictly. As the emergency water source and eco-conservation division of Beijing City, Pinggu District should improve its eco-environment protection and economic development to support the ecological and drinking water source securities of the Capital Beijing.