RESUMEN
Aim: The aim of this study is to investigate if Preimplantation Genetic Testing (PGT) can effectively identify unreported variants according to American College of Medical Genetics and Genomics (ACMG)to prevent citrullinemia type 1 affection. Design: This study involves a detailed case analysis of a family with history of citrullinemia type 1, focusing on the use of PGT for monogenic diseases (PGT-M). The genetic variants were identified using ACMG guidelines, and PGT was employed to prevent the inheritance of these variants. The study included haplotype analysis and Sanger sequencing to confirm the results. Results: The study identified previously unreported variations in the ASS1 gene causing citrullinemia type 1. PGT successfully prevented the transmission of these variants, resulting in the birth of a healthy fetus. However, challenges such as allele dropout (ADO) and gene recombination were encountered during haplotype analysis, which could potentially defeat the diagnosis. The study demonstrated that combining haplotype analysis with Sanger sequencing can enhance the accuracy of PGT. Conclusion: Preimplantation Genetic Testing (PGT) targeting likely pathogenic and pathogenic variants in the ASS1 gene, as rated by ACMG, allows the birth of healthy infants free from citrullinemia type 1. Additionally, the establishment of single haplotypes and Sanger sequencing can reduce the misdiagnosis rate caused by allele dropout (ADO) and genetic recombination.
RESUMEN
Objective: To explore the association between lipoprotein-associated phospholipase A2 (Lp-PLA2) and the risk of cognitive impairment in Parkinson's disease (PD-CI). Methods: A case-control study involving 100 hospitalized PD patients and 60 healthy controls was carried out. Serum Lp-PLA2 level was detected by automatic biochemical analyzer. Based on whether Parkinson's patients have cognitive impairment, PD patients were subdivided to analyze the clinical value of Lp-PLA2. Relationship between Lp-PLA2 and PD-CI risk was analyzed by logistic regression. Diagnostic value of Lp-PLA2 in PD-CI patients was investigated using receiver's operator characteristic curves. Results: The levels of serum Lp-PLA2 activity in Parkinson's disease with normal cognition (PD-NC) and PD-CI patients were significantly higher than those in healthy controls (HCs), respectively. Furthermore, compared to the PD-NC group, the serum Lp-PLA2 activity level was significantly higher in PD-CI patients. Multivariable logistic regression analysis indicated that higher Lp-PLA2 level was an independent risk factor for PD patients with cognitive impairment. Moreover, the area under the efficacy curve of Lp-PLA2 for predicting PD-CI is 0.659. Conclusion: Our study shows that higher levels of Lp-PLA2 activity in PD patients are associated with the risk of developing cognitive impairment. Therefore, given the wide availability, safety, and convenience of monitoring serum Lp-PLA2 activity, it may serve as an early biomarker for cognitive impairment in PD patients.
RESUMEN
The INDETERMINATE DOMAIN (IDD) transcription factors mediate various aspects of plant growth and development. We previously reported that an Arabidopsis IDD subfamily regulates spatial auxin accumulation, and thus organ morphogenesis and gravitropic responses. However, its functions in stress responses are not well defined. Here, we use a combination of physiological, biochemical, molecular, and genetic approaches to provide evidence that the IDD14 cooperates with basic leucine zipper-type binding factors/ABA-responsive element (ABRE)-binding proteins (ABRE-binding factors (ABFs)/AREBs) in ABA-mediated drought tolerance. idd14-1D, a gain-of-function mutant of IDD14, exhibits decreased leaf water loss and improved drought tolerance, whereas inactivation of IDD14 in idd14-1 results in increased transpiration and reduced drought tolerance. Altered IDD14 expression affects ABA sensitivity and ABA-mediated stomatal closure. IDD14 can physically interact with ABF1-4 and subsequently promote their transcriptional activities. Moreover, ectopic expression and mutation of ABFs could, respectively, suppress and enhance plant sensitivity to drought stress in the idd14-1 mutant. Our results demonstrate that IDD14 forms a functional complex with ABFs and positively regulates drought-stress responses, thus revealing a previously unidentified role of IDD14 in ABA signaling and drought responses.
Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Ácido Abscísico/metabolismo , Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/genética , Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/metabolismo , Sequías , Regulación de la Expresión Génica de las Plantas , Ácidos Indolacéticos/metabolismo , Plantas Modificadas Genéticamente/metabolismo , Estrés Fisiológico/genética , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Agua/metabolismoRESUMEN
At present, China has achieved an initial establishment and gradual implementation of a framework for national essential drugs policy. With the further implementation of the national essential drugs policy, it is not clear how the policy works, whether it achieves the original intention of essential drugs policy, and what impact essential drugs policy exerts on the primary health care system. In view of it, we conducted a field research on sample areas of Shandong Province to understand the conditions of the implementation of the essential drugs policy in Shandong Province. From three perspectives of medical institutions, patients and medical staff, this thesis analyzes the impact of essential drugs policy on village-level and township-level health service system, summarizes the effectiveness of implementing essential drugs policy, discovers the problems of various aspects and conducts an in-depth analysis of the causes, and puts forward feasible suggestions to provide reference for improving the essential drugs policy. The assessment results show that the implementation of essential drugs policy in Shandong Province has played a positive role in promoting the sound development of the primary health care system, changed the situation of covering hospital expenses with medicine revenue in the past, contributed to the return of medical institutions to public welfare, and reduced the patient's economic burden of disease. But there emerge many problems as follows: impact on the doctor's diagnosis and treatment due to incompleteness of drug types, and distribution not in place, patient loss and operational difficulty of village clinic. Thus, this thesis makes recommendations of drugs catalog formulation, drug procurement, sales and use, and meanwhile points out that the supporting financial compensation policy and performance appraisal policy and other measures in place are a prerequisite for a positive role of essential drugs policy.
Asunto(s)
Medicamentos Esenciales/provisión & distribución , Política de Salud , Atención Primaria de Salud/organización & administración , Servicios de Salud Rural/organización & administración , Medicina Estatal/organización & administración , China , Humanos , Atención Primaria de Salud/normas , Evaluación de Programas y Proyectos de Salud , Servicios de Salud Rural/normas , Medicina Estatal/normasRESUMEN
BACKGROUND/AIMS: In recent years, acupuncture has become more and more popular in the management of subfertility. The aim of this study was to evaluate the impact of acupuncture during in vitro fertilization (IVF) treatment on the outcomes of clinical pregnancy in published randomized studies. METHODS: This is a systematic review and meta-analysis. Data sources used were MEDLINE, Embase, Web of Knowledge and the Chinese Biomedical Database. RESULTS: There was no statistically significant difference between the acupuncture group and no acupuncture (intervention) controls around the time of embryo transfer (ET; risk ratio, RR, 1.24, 95% confidence interval, CI, 1.02-1.50) or in unblinded trials, trials blinded to physicians and double-blind trials (95% CI 1.26-1.88, 0.82-1.33 and 0.89-1.25, respectively). This was also the case when comparing acupuncture with sham acupuncture controls around the time of ET (RR, 1.03, 95% CI 0.87-1.22) or when restricting to unblinded trials, trials blinded to physicians and double-blind trials (95% CI 0.80-2.02, 0.82-1.18 and 0.77-1.17, respectively). There was a statistically significant difference when performed at 30 min after ET and implantation phase (RR 1.76, 95% CI 1.22-2.55). There was also a statistically significant difference when performed at follicle phase and 25 min before and after ET (RR 1.56, 95% CI 1.04-2.33). CONCLUSION: Our study showed that acupuncture did not significantly improve the IVF clinical pregnancy rate when performed only at the time of ET, while we found pooled benefit of acupuncture for IVF when performed at follicle phase and 25 min before and after ET, as well as 30 min after ET and implantation phase.
Asunto(s)
Acupuntura , Fertilización In Vitro/métodos , Método Doble Ciego , Transferencia de Embrión/métodos , Femenino , Fase Folicular , Humanos , MEDLINE , Embarazo , Resultado del Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Advances in embryo culture technology and cryopreservation have led to a shift in in vitro fertilization (IVF) from early fresh or frozen-thawed cleavage embryo transfer to fresh or frozen-thawed blastocyst stage transfer. OBJECTIVE: To compare the clinical outcomes of fresh embryo transfers and frozen-thawed embryo transfers. MATERIALS AND METHODS: In this retrospective case control study, patients undergoing IVF cycles from January 2012 to December 2012 were enrolled in Assisted Reproduction of Wuhan Union Hospital were enrolled. A total of 1891 cycle contains 1150 fresh embryo transfers and 741 frozen-thawed embryo transfers were studied. All data were transferred directly to SPSS 18 and analyzed. RESULTS: Clinical pregnancy rates of fresh cleavage-stage embryo transfers compared with fresh blastocyst transfers, frozen-thawed cleavage-stage embryo transfers, post thaw cleavage-stage extended blastocyst culture transfers and frozen-thawed blastocyst transfers were 52.7%, 35.88%, 35.29%, 47.75%, 59.8% in patients under 35 years of ages and 41.24%, 26.92%, 11.32%, 46.15%, 55.8% in patients older than 35 years old, respectively. The multiple pregnancy rates, abortion rates and ectopic pregnancy rates did not differ significantly among the five groups. CONCLUSION: The clinical pregnancy rates were not different significantly between fresh cleavage-stage embryo transfers and fresh blastocyst transfers. But the clinical pregnancy rate of frozen-thawed blastocyst transfer was the highest among fresh/frozen-thawed embryo transfers.
RESUMEN
Transcriptome analysis of early-developing maize (Zea mays) seed was conducted using Illumina sequencing. We mapped 11,074,508 and 11,495,788 paired-end reads from endosperm and embryo, respectively, at 9 d after pollination to define gene structure and alternative splicing events as well as transcriptional regulators of gene expression to quantify transcript abundance in both embryo and endosperm. We identified a large number of novel transcribed regions that did not fall within maize annotated regions, and many of the novel transcribed regions were tissue-specifically expressed. We found that 50.7% (8,556 of 16,878) of multiexonic genes were alternatively spliced, and some transcript isoforms were specifically expressed either in endosperm or in embryo. In addition, a total of 46 trans-splicing events, with nine intrachromosomal events and 37 interchromosomal events, were found in our data set. Many metabolic activities were specifically assigned to endosperm and embryo, such as starch biosynthesis in endosperm and lipid biosynthesis in embryo. Finally, a number of transcription factors and imprinting genes were found to be specifically expressed in embryo or endosperm. This data set will aid in understanding how embryo/endosperm development in maize is differentially regulated.
Asunto(s)
Endospermo/genética , Regulación de la Expresión Génica de las Plantas , Semillas/genética , Transcriptoma , Zea mays/genética , Empalme Alternativo , Endospermo/crecimiento & desarrollo , Exones/genética , Regulación del Desarrollo de la Expresión Génica , Biblioteca de Genes , Redes Reguladoras de Genes/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Intrones/genética , Proteínas de Plantas/genética , Semillas/crecimiento & desarrollo , Análisis de Secuencia de ARN , Trans-Empalme , Zea mays/crecimiento & desarrolloRESUMEN
INTRODUCTION: The Saint Louis University Mental Status (SLUMS) examination is a popular screening scale for cognitive impairment in North America but has not been studied in Chinese populations. The aim of this study is to compare consistency of the SLUMS with the Chinese version of Mini-Mental Status Examination (CMMSE) and the Beijing version of Montreal Cognitive Assessment (MoCA-B) in Chinese elderly. METHODS: Two hundred seventy-eight Chinese elderly with chronic diseases and geriatric syndromes from the geriatrics department were screened for cognitive impairment, including dementia and mild cognitive impairment, using SLUMS, CMMSE, and MoCA-B. The modified education level cutoff in the diagnostic criteria of SLUMS (mSLUMS) was explored. Scores of the scales and classifications for cognitive status by them were compared using Spearman and κ statistics, respectively. RESULTS: Spearman correlation coefficient between scores of the scales were 0.747 (SLUMS vs CMMSE, P < .001), 0.839 (SLUMS vs MoCA-B, P < .001), and 0.773 (CMMSE vs MoCA-B, P < .001). For detection of dementia, κ values were 0.462 (SLUMS vs CMMSE, P < .000) and 0.484 (mSLUMS vs CMMSE, P < .000). For mild cognitive impairment, κ values were 0.123 (SLUMS vs CMMSE plus MoCA-B in parallel, P = .089) and 0.148 (mSLUMS vs CMMSE plus MoCA-B in parallel, P = .031). For all cognitive impairment, κ values were 0.562 (SLUMS vs MoCA-B, P < .000) and 0.650 (SLUMS vs MoCA-B, P < .000). CONCLUSION: Findings from our study indicate that the scores of SLUMS are fairly consistent with MoCA-B and CMMSE in Chinese elderly. Discrepancies of classifications for cognitive status by SLUMS and the other 2 scales implies that further work is needed to explore optimal cutoffs of SLUMS for screening mild cognitive impairment and dementia in elderly Chinese.
Asunto(s)
Trastornos del Conocimiento/diagnóstico , Evaluación Geriátrica/métodos , Escala del Estado Mental/normas , Anciano , Anciano de 80 o más Años , China , Femenino , Humanos , Masculino , Persona de Mediana Edad , Casas de Salud , Encuestas y CuestionariosRESUMEN
A tomato (Lycopersicon esculentum Mill.) chloroplast glutathione reductase gene (LeGR) was isolated and antisense transgenic tomato lines were obtained. Under chilling stress, transgenic plants accumulated more H(2)O(2), leaked more electrolyte and showed lower net photosynthetic rate (Pn), maximal photochemical efficiency of PSII (Fv/Fm) and oxidizable P700 compared with wild-type (WT) plants. Transgenic seedlings were more suppressed in fresh-weight growth and lost more cotyledon chlorophyll. The decrease in the activity of ascorbate peroxidase (APX) was implied to be potentially relevant to the greater accumulation of H(2)O(2) in transgenic plants. Chilling treatment induced more decrease in the level of reducted glutathione (GSH) and redox ratio of glutathione in transgenic plants than in WT plants, but aroused more increase in GSSG in transgenic plants than in WT plants. Total glutathione displayed no change. Besides, chilling stress resulted in greater decreases in the level of reducted ascorbate (AsA), total ascorbate and redox ratio of ascorbate in transgenic plants than in WT plants, but led to equivalent degree of dehydroascorbate (DHA) increase in WT and transgenic plants. These assessments of glutathione-ascorbate cycle revealed that the decrease of glutathione reductase activity in transgenic plants affected glutathione regeneration, and consequently affected ascorbate regeneration and total ascorbate content. This resulted in a greater accumulation of H(2)O(2) and an enhanced sensitivity to chilling stress in transgenic plants. Moreover, a putative concept model of ecophysiological reaction was discussed.
Asunto(s)
Cloroplastos/enzimología , Glutatión Reductasa/metabolismo , Solanum lycopersicum/enzimología , Estrés Fisiológico , Agrobacterium/genética , Agrobacterium/metabolismo , Secuencia de Aminoácidos , Ascorbato Peroxidasas/metabolismo , Ácido Ascórbico/metabolismo , Northern Blotting , Caulimovirus/genética , Caulimovirus/metabolismo , Clorofila/análisis , Clorofila/metabolismo , Cloroplastos/genética , Clonación Molecular , Frío , ADN sin Sentido/genética , ADN sin Sentido/metabolismo , Fluorescencia , Depuradores de Radicales Libres/metabolismo , Regulación de la Expresión Génica de las Plantas , Glutatión/metabolismo , Peróxido de Hidrógeno/metabolismo , Solanum lycopersicum/genética , Solanum lycopersicum/crecimiento & desarrollo , Datos de Secuencia Molecular , Oxidación-Reducción , Fotosíntesis , Plantas Modificadas Genéticamente/enzimología , Plantas Modificadas Genéticamente/genética , Plantas Modificadas Genéticamente/crecimiento & desarrollo , Plásmidos/genética , Plásmidos/metabolismo , Protoplastos/metabolismo , ARN de Planta/genética , ARN de Planta/aislamiento & purificación , Especies Reactivas de Oxígeno/metabolismo , Alineación de Secuencia , Superóxido Dismutasa/metabolismo , Transfección , Transformación GenéticaRESUMEN
Ascorbate peroxidase plays a key role in scavenging reactive oxygen species under environmental stresses and in protecting plant cells against toxic effects. The Solanum lycopersicum thylakoid-bound ascorbate peroxidase gene (StAPX) was introduced into tobacco under the control of the cauliflower mosaic virus 35S promoter. Transformants were selected for their ability to grow on medium containing kanamycin. RNA gel blot analysis confirmed that StAPX was transferred into the tobacco genome and StAPX was induced by salt and osmotic stresses in tomato leaves. Over-expression of StAPX in tobacco improved seed germination rate and elevated stress tolerance during post-germination development. Two transgenic lines showed higher APX activity and accumulated less hydrogen peroxide than wild-type plants after stress treatments. The photosynthetic rates, the root lengths, the fresh and dry weights of the transgenic lines were distinctly higher than those of wild-type plants under stress conditions. Results indicated that the over-expression of StAPX had enhanced tolerance to salt stress and osmotic stress in transgenic tobacco plants.