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Objective To establish a health education program for home emergency management of acute complications of diabetes in the elderly.Methods The program was drafted by literature review and panel discussion.The final draft was formed after two rounds of correspondence from 13 experts.Results The recovery rate of the two rounds of expert correspondence was 100%,and the expert authority coefficient was 0.98.The Kendall's harmony coefficients of the two rounds of correspondence were 0.263 and 0.212 respectively(both P<0.001).The established health education program included indicators of three categories:early stage of acute complications of diabetes at home(understanding the inducing factors),emergency warning(quick and early identification in case of emergency),and emergency treatment at home.Conclusion The contents of the health education program are systematic and reliable and meet the needs of health education for home emergency management of the elderly with diabetes.
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Complicações do Diabetes , Diabetes Mellitus , Humanos , Idoso , Técnica Delphi , Educação em Saúde , Diabetes Mellitus/terapiaRESUMO
Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation of synovium, leading to cartilage damage, bone erosion, even joint destruction and deformity. The conventional treatment modalities in RA are associated with side effects, emphasizing the need for alternative therapeutic remedies. Baicalin possesses multiple pharmacological effects and the advantage of low toxicity. This study aimed to reveal the potential gene regulatory mechanisms underlying the alleviating effects of baicalin in joint pathological alterations in Collagen-Induced Arthritis (CIA) rat models. At 28 days after the primary immunization, 60 mg/kg/d of baicalin was administered via intraperitoneal injection once daily for 40 days, and the pathological alterations of hind paw joints were examined with X-ray imaging. Subsequently, the synovial tissue of knee joints was isolated, from which total RNA was extracted, and mRNA and miRNA sequencing libraries were established. Finally, High-throughput transcriptome sequencing(RNA-seq) technology was performed, and the lncRNAs/miRNAs/mRNAs competing endogenous RNA(ceRNA) regulatory network was analyzed. The CIA model was successfully established, and baicalin treatment significantly alleviated the destruction of distal joints of CIA rat models (p < 0.01). We found that 3 potential ceRNA regulatory networks of baicalin were established, including lncRNA ENSRNOT00000076420/miR-144-3p/Fosb, lncRNA MSTRG.1448.13/miR-144-3p/Atp2b2 and lncRNA MSTRG.1448.13/miR-144-3p/Shanks. The validation results from synovial tissue of CIA rats were consistent with the RNA-Seq results. Overall, this study revealed potentially important genes and ceRNA regulatory network that mediate the alleviating effects of baicalin on joint pathological alterations in CIA rats.
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Artrite Experimental , Artrite Reumatoide , MicroRNAs , RNA Longo não Codificante , Ratos , Animais , Artrite Experimental/tratamento farmacológico , Artrite Experimental/genética , Artrite Experimental/patologia , RNA Longo não Codificante/genética , MicroRNAs/genética , MicroRNAs/uso terapêutico , Biologia Computacional/métodosRESUMO
The population structure of Protosalanx chinensis is affected by a variety of factors, including water environment, intraspecific differentiation, interspecific competition and commercial fishing. To investigate the growth performance and the current status of resource utilization of P. chinensis in two important fish farming grounds (Dalong Lake and Amuta Lake) in Daqing, Northeast China, we collected 1513 P. chinensis samples from April to December 2018 for measurement and recording the basic biological characteristics. We estimated the parameters including population growth, mortality and exploitation using Von Bertalanffy growth formula, Beverton-Holt model, Pauly's empirical formula and length-based Bayesian biomass estimation method. The results showed that the asymptotic body lengths of Dalong Lake (n=660) and Amuta Lake (n=853) populations were 183.75 and 169.10 mm, respectively. The growth performance indices were both 4.85, and the body mass growth equations were Wt=29.29×(1-e-2.1(t+0.07))3.2977 and Wt=28.72×(1-e-2.5(t+0.07))3.4168, respectively. The ages at inflection were 0.49 a and 0.43 a, and the condition factors were 5.30×10-4±1.38×10-4 and 4.00×10-4±1.61×10-4. The exploitation rates were 0.60 and 0.61, and the relative catch per unit of supplementation were 0.069 and 0.075, respectively. The current differences in population resources between Dalong Lake and Amuta Lake in Daqing were mainly manifested in the parameters related to growth characteristics. The main reason for such differences was changes in the survival conditions of P. chinensis populations after the period of dietary transition induced by the density differences.
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Lagos , Crescimento Demográfico , Animais , Lagos/química , Teorema de Bayes , Biomassa , ChinaRESUMO
Aim To investigate the antibacterial activity and anti-resistant mutation ability of Qiguiyin decoction (a traditional Chinese herbal formula) combined with levofloxacin against pseudomonas aeruginosa byantibacterial experiment in vitro and serum pharmacology. Methods The minimal inhibitory concentrations (MICs) of levofloxacin and Qiguiyin decoction were detected respectively by the broth dilution technique.The MIC of the combination of two drugs was determined by the micro chessboard dilution method. The effects of combined drugs on enhancing the antibacterial activity of different strains were evaluated respectively by calculating the fractional inhibitory concentration index (FICI). The drug-containing serum of levofloxa-cin group, Qiguiyin decoction group, Qiguiyin decoction combined with levofloxacin group and control group was prepared. The antibacterial rate, MIC and MBC of 10% ~ 90% serum against the two strains were determined. Results Combined with Qiguiyin decoction, MIC of levofloxacin against pseudomonas aeruginosa (standard/resistant) decreased significantly, 0. 5 < FICI
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OBJECTIVE: Nurses' palliative care practice ability is the key to evaluating the quality of palliative care. This study aimed to identify the current situation of palliative care practices, competence and difficulties among nurses and determine whether difficulties play a mediating role between practices and competence. METHODS: A cross-sectional study was conducted. The online survey comprised demographics, the Palliative Care Self-Reported Practices Scale, the Palliative Care Nursing Self-competence Scale and the Palliative Care Difficulties Scale. Data were analysed by using descriptive statistics, univariate analysis, linear regression and mediation analysis. RESULTS: A total of 284 questionnaires were included for statistical analysis. The mean scores for practices, competence and difficulties were 67.81 (SD = 13.60), 124.28 (41.21) and 44.32 (12.68), respectively. There was a correlation between practices, competence and difficulties (p < 0.01). Competence and difficulties were independent predictors of practices (R2 adj = 0.384, p < 0.001). Furthermore, difficulties mediated the relationship between practices and competence (b = 0.052, 95% confidence interval: 0.008-0.155). CONCLUSIONS: Continuous efforts should be made to enhance nurses' practices, competence and problem-solving abilities in palliative care. This study suggested further targeted education programmes, especially in special symptom management, interagency and multidisciplinary communication.
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Enfermagem de Cuidados Paliativos na Terminalidade da Vida , Enfermeiras e Enfermeiros , Humanos , Cuidados Paliativos , Estudos Transversais , Autorrelato , Inquéritos e Questionários , Competência ClínicaRESUMO
Syzygium album is a plant species with extremely small population and endemic to Yun-xiao County, Fujian Province. We examined its population status and conservation evaluation. The results showed that there were 25 individuals of S. album, with only one mother tree. Except for the mother tree and one small tree, the others were all young seedlings, which was rare in abundance and lack of age stage of middle and strong trees. The spatial distribution of young seedlings was not uniform, with most of individuals within the range of 10-25 m from the mother tree. The age class structure of the population was not continuous and the population development was unsustainable. The competition mainly came from other species. Cryptocarya chinensis accounted for 66.6% of the total competition index, which was much higher than other species. We established a comprehensive evaluation index system for the protection of rare and endangered plants with extremely small populations and evaluated the protection of S. album from three aspects, i.e., endangered degree, protection value, and protection priority. The endangered degree of S. album was level â (the endangered degree index was 4.510), belonging to extremely endangered species, the protection value was level â (the protection value index was 4.052), which was of great value, and the protection priority was level â (the protection priority index was 4.016), which should be listed as the highest priority protection level.
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Syzygium , Animais , Ecossistema , Espécies em Perigo de Extinção , Humanos , Plantas , ÁrvoresRESUMO
AMORPHOPHALLUS: has attracted tremendous interest because of its high contents of glucomannan and starch. Very few genes regulating glucomannan and starch were reported in Amorphophallus. In this study, an ADP-glucose pyrophosphorylase (AGP) gene that plays a significant role in plant starch synthesis was cloned from Amorphophallus muelleri. It was shown that it encoded a predicted protein containing a conserved plant ADP-Glucose-PP repeat domain and seven potential ligand-binding sites. The real-time quantitative PCR showed that AmAGP was most abundant in tubers, and it was positively correlated with starch content. Additionally, its influencers about temperature and exogenous plant hormone were also discussed, showing that AmAGP expressed highly in tubers under treatments using 25°C and IAA. Furthermore, starch content was closely related to AmAGP expression level, suggesting that AmAGP was involved in the regulation of starch synthesis in A. muelleri. Therefore, identifying the sequence of AmAGP and its expression pattern during tuber enlarging and the changes of its transcript levels in response to temperature and plant hormones would contribute to a better understanding of starch synthesis, and also providing a reference information for future preferable breeding for obtaining more starch or more glucomannan in Amorphophallus.
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Amorphophallus/metabolismo , Glucose-1-Fosfato Adenililtransferase/metabolismo , Amido/metabolismo , Reguladores de Crescimento de Plantas/metabolismo , TemperaturaRESUMO
Objectives: The role of oral glutamine for the management of oral mucositis (OM) has not yet been confirmed. The objective of the present study is to further investigate whether oral glutamine is effective in preventing and treating OM among patients with head and neck cancer (HNC) receiving radiotherapy alone or concurrent with chemotherapy. Methods: A systematic search was performed in PubMed, EMBASE, EBSCO, and Cochrane Central Register of Controlled Trials (CENTRAL) to capture all potential citations from the inception to June 2019. Then data extraction and assessment of risk of bias were carried out after selecting the eligible citations. RevMan 5.3 software was used to perform all statistical analyses. Results: Six randomized controlled trials (RCTs) including 441 patients were included in the final analysis. The meta-analysis showed that oral glutamine couldn't significantly decrease the incidence of OM (risk ratio [RR] = 0.98, 95% confidence interval [CI] = 0.94-1.02) and alleviate the development of moderate or severe grade of OM (Moderate-to-severe OM: RR = 0.81, 95% CI = 0.59-1.12; Severe OM: RR = 0.45, 95% CI = 0.13-1.52). But oral glutamine may have the potential to reduce the opioid use (RR = 0.84, 95% CI = 0.71-0.99). The role of oral glutamine in delaying the onset of OM remains uncertain due to conflicting results between quantitative (mean difference [MD] = 4.11 days, 95% CI = 3.49-4.73) and qualitative results. Conclusions: Oral glutamine may have no clinical benefits to prevent or reduce the incidence and severity of radiation-induced OM in patients with HNC receiving radiotherapy alone or concurrent with chemotherapy. It is also uncertain whether oral glutamine can delay the onset of OM. But it may have the potential to relieve the degree of oral pain. Nevertheless, we must cautiously interpret the results because the observed effect size for delay in mucositis start or reduction in opioid use is marginal. Moreover, further RCTs with more rigorous methodology and large-scale are required to enhance the quality of evidence.
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The broad spectrum of intellectual disability (ID) patients' clinical manifestations, the heterogeneity of ID genetic variation, and the diversity of the phenotypic variation represent major challenges for ID diagnosis. By exploiting a manually curated systematic phenotyping cohort of 3803 patients harboring ID, we identified 704 pathogenic genes, 3848 pathogenic sites, and 2075 standard phenotypes for underlying molecular perturbations and their phenotypic impact. We found the positive correlation between the number of phenotypes and that of patients that revealed their extreme heterogeneities, and the relative contribution of multiple determinants to the heterogeneity of ID phenotypes. Nevertheless, despite the extreme heterogeneity in phenotypes, the ID genes had a specific bias of mutation types, and the top 44 genes that ranked by the number of patients accounted for 39.9% of total patients. More interesting, enriched co-occurrent phenotypes and co-occurrent phenotype networks for each gene had the potential for prioritizing ID genes, further exhibited the convergences of ID phenotypes. Then we established a predictor called IDpred using machine learning methods for ID pathogenic genes prediction. Using10-fold cross-validation, our evaluation shows remarkable AUC values for IDpred (auc = 0.978), demonstrating the robustness and reliability of our tool. Besides, we built the most comprehensive database of ID phenotyped cohort to date: IDminer http://218.4.234.74:3100/IDminer/, which included the curated ID data and integrated IDpred tool for both clinical and experimental researchers. The IDminer serves as an important resource and user-friendly interface to help researchers investigate ID data, and provide important implications for the diagnosis and pathogenesis of developmental disorders of cognition.
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BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hydroxyglutarate (2-HG) in the plasma, urine and cerebrospinal fluid. The causative gene of L-2-HGA is L-2-hydroxyglutarate dehydrogenase gene (L2HGDH), which consists of 10 exons. CASE PRESENTATION: We presented a rare patient primary diagnosis of L-2-HGA based on the clinical symptoms, magnetic resonance imaging (MRI), and gas chromatography-mass spectrometry (GC-MS) results. Mutational analysis of the L2HGDH gene was performed on the L-2-HGA patient and his parents, which revealed two novel mutations in exon 3: a homozygous missense mutation (c.407 A > G, p.K136R) in both the maternal and paternal allele, and a heterozygous frameshift mutation [c.407 A > G, c.408 del G], (p.K136SfsX3) in the paternal allele. The mutation site p.K136R of the protein was located in the pocket of the FAD/NAD(P)-binding domain and predicted to be pathogenic. CONCLUSION: We predicted the homozygous missense mutation (c.407 A > G, p.K136R) was considered as the pathogenic mutation of the patient. The study highlights the power of pedigree analysis in order to interpret novel mutations.
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Oxirredutases do Álcool/genética , Encefalopatias Metabólicas Congênitas/genética , Mutação da Fase de Leitura , Mutação de Sentido Incorreto , Oxirredutases do Álcool/química , Oxirredutases do Álcool/metabolismo , Sequência de Bases , Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Encefalopatias Metabólicas Congênitas/etnologia , Encefalopatias Metabólicas Congênitas/patologia , Análise Mutacional de DNA , Éxons , Feminino , Flavina-Adenina Dinucleotídeo/química , Flavina-Adenina Dinucleotídeo/metabolismo , Expressão Gênica , Genes Recessivos , Heterozigoto , Homozigoto , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Modelos Moleculares , NADP/química , NADP/metabolismo , Linhagem , Domínios e Motivos de Interação entre Proteínas , Estrutura Secundária de ProteínaRESUMO
Effective communication among healthcare professionals in the intensive care unit (ICU) is a particular imperative, with accurate and efficient interdisciplinary communication being a critical prerequisite for high-quality care. Nurses and physicians are highly important parts of the healthcare system workforce. Thus, identifying strategies that would improve communication between these two groups can provide evidence for practical improvement in the ICU, which will ultimately improve patient outcomes. This integrative literature review aimed to identify interventions that improve communication between nurses and physicians in ICUs. Three databases (Medline, CINAHL, and Science Direct) were searched between September 2014 and June 2016 using 11 search terms, namely, nurse, doctor, physician, resident, clinician, ICU, intensive care unit, communication, teamwork, collaboration, and relationship. A manual search of the reference lists of found papers was also conducted. Eleven articles met the inclusion criteria. These studies reported on the use of communication tools/checklists, team training, multidisciplinary structured work shift evaluation, and electronic situation-background-assessment-recommendation documentation templates to improve communication. Although which intervention strategies are most effective remains unclear, this review suggests that these strategies improve communication to some extent. Future studies should be rigorously designed and outcome measures should be specific and validated to capture and reflect the effects of effective communication.
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Real-time quantitative reverse transcription PCR is a sensitive and widely used technique to quantify gene expression. To achieve a reliable result, appropriate reference genes are highly required for normalization of transcripts in different samples. In this study, 9 previously published reference genes (60S, Fbox, ELF1A, ELF1B, ACT11, TUA5, UBC4, G6PD, CYP2) of soybean [Glycine max (L.) Merr.] were selected. The expression stability of the 9 genes was evaluated under conditions of biotic stress caused by infection with soybean mosaic virus, nitrogen stress, across different cultivars and developmental stages. ΔCt and geNorm algorithms were used to evaluate and rank the expression stability of the 9 reference genes. Results obtained from two algorithms showed high consistency. Moreover, results of pairwise variation showed that two reference genes were sufficient to normalize the expression levels of target genes under each experimental setting. For virus infection, ELF1A and ELF1B were the most stable reference genes for accurate normalization. For different developmental stages, Fbox and G6PD had the highest expression stability between two soybean cultivars (Tanlong No. 1 and Tanlong No. 2). ELF1B and ACT11 were identified as the most stably expressed reference genes both under nitrogen stress and among different cultivars. The results showed that none of the candidate reference genes were uniformly expressed at different conditions, and selecting appropriate reference genes was pivotal for gene expression studies with particular condition and tissue. The most stable combination of genes identified in this study will help to achieve more accurate and reliable results in a wide variety of samples in soybean.
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Perfilação da Expressão Gênica , Genes de Plantas , Glycine max/genética , Reação em Cadeia da Polimerase em Tempo Real/métodos , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Glycine max/crescimento & desenvolvimentoRESUMO
PURPOSE: Patient loyalty is key to business success for healthcare providers and also for patient health outcomes. This study aims to identify determinants influencing patient loyalty to healthcare providers and propose an integrative conceptual model of the influencing factors. DATA SOURCES: PubMed, CINAHL, OVID, ProQuest and Elsevier Science Direct databases were searched. STUDY SELECTION: Publications about determinants of patient loyalty to health providers were screened, and 13 articles were included. DATA EXTRACTION: Date of publication, location of the research, sample details, objectives and findings/conclusions were extracted for 13 articles. RESULTS OF DATA SYNTHESIS: Thirteen studies explored eight determinants: satisfaction, quality, value, hospital brand image, trust, commitment, organizational citizenship behavior and customer complaints. The integrated conceptual model comprising all the determinants demonstrated the significant positive direct impact of quality on satisfaction and value, satisfaction on trust and commitment, trust on commitment and loyalty, and brand image on quality and loyalty. CONCLUSION: This review identifies and models the determinants of patient loyalty to healthcare providers. Further studies are needed to explore the influence of trust, commitment, and switching barriers on patient loyalty.
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Comportamento do Consumidor , Satisfação do Paciente , Relações Profissional-Paciente , Pessoal de Saúde/normas , Relações Hospital-Paciente , Humanos , Qualidade da Assistência à Saúde , ConfiançaRESUMO
BACKGROUND: Brain injury can promote fracture healing is becoming an issue of concern, but the underlying mechanism remains unknown.OBJECTIVE: To establish a model of cerebral injury combined with right tibial fracture, and to investigate the cerebrospinal fluid and serum levels of calcitonin gene-related peptide, nerve growth factor and insulin-like growth factor-1.METHODS: New Zealand white rabbits were randomly divided into four groups: group A: blank control group;group B: simple brain injury group; group C: simple tibial fracture group; group D: tibial fracture combined with brain injury. The cerebrospinal fluid and serum levels of calcitonin gene-related peptide, nerve growth factor and insulin-like growth factor-1 were detected at different time points. The rabbits in the groups C and D were sacrificed at 1, 4 and 8 weeks after modeling to remove the whole tibia, and scanned by X-ray. The callus volume was calculated, and the pathological changes were analyzed.RESULTS AND CONCLUSION: The fracture healing was faster in the group D than the group C. The callus volume,trabecular width, trabecular area ratio, and the number of newly born vessels in the group D were significantly higher than those in the group C at 4 weeks after modeling (P < 0.05). The cerebrospinal fluid and serum levels of calcitonin gene-related peptide, nerve growth factor and insulin-like growth factor-1 in the group D were significantly higher than those in the group C (P < 0.05), and the cerebrospinal fluid levels reached the maximum values earlier than did the serum levels. Furthermore, in the group D, the calcitonin gene-related peptide level was increased earlier than the other two factors. To conclude, calcitonin gene-related peptide, nerve growth factor and insulin-like growth factor-1 are essential factors involved in promoting fracture healing after traumatic brain injury, and moreover calcitonin gene-related peptide shows a stronger ability than the other factors.
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AIM:To observe the antiulcer effect of butyric acid and hydrogen , the main metabolites of Clos-tridium butyricum (C.butyricum), and to explore the underlying mechanism .METHODS: The mouse model of acute gastric mucosal lesion was prepared by gavage with ethanol .The mice were randomly divided into 4 groups:normal group , model group , butyric acid group and hydrogen group .The mice in butyric acid group and hydrogen group were given buty-rate and hydrogen prior to model establishment , respectively .Macroscopic observation of the pathological changes in gastric tissues was performed to evaluate the effect of the 2 metabolites of C.butyricum.Meanwhile, the mRNA expression levels of inflammatory factors, such as IL-12, RAN1 and MCP-1, were determined by RT-qPCR.The expression levels of apopto-sis-related proteins Bcl-2 and Bax were detected by immunohistochemical staining .RESULTS:The macroscopic observa-tion found that butyrate , not hydrogen , protected gastric mucosa .HE staining also showed that butyrate significantly attenu-ated the pathological damage of the gastric mucosa induced by ethanol .Compared with model group , the mRNA levels of inflammatory factors IL-12, RAN1 and MCP-1 in butyrate group significantly decreased (P<0.01).In butyrate group, the protein level of Bax was obviously decreased compared with model group (P<0.01), while the protein level of Bcl-2 was significantly increased ( P<0.01 ) .CONCLUSION: The gastric mucosa protective metabolite of C.butyricum may be butyric acid , not hydrogen .Butyric acid protects the gastric mucosa against ethanol-induced lesion by inhibiting the inflam- mation and reducing the expression ratio of Bax/Bcl-2.
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AIM:To observe the antiulcer effect of butyric acid and hydrogen , the main metabolites of Clos-tridium butyricum (C.butyricum), and to explore the underlying mechanism .METHODS: The mouse model of acute gastric mucosal lesion was prepared by gavage with ethanol .The mice were randomly divided into 4 groups:normal group , model group , butyric acid group and hydrogen group .The mice in butyric acid group and hydrogen group were given buty-rate and hydrogen prior to model establishment , respectively .Macroscopic observation of the pathological changes in gastric tissues was performed to evaluate the effect of the 2 metabolites of C.butyricum.Meanwhile, the mRNA expression levels of inflammatory factors, such as IL-12, RAN1 and MCP-1, were determined by RT-qPCR.The expression levels of apopto-sis-related proteins Bcl-2 and Bax were detected by immunohistochemical staining .RESULTS:The macroscopic observa-tion found that butyrate , not hydrogen , protected gastric mucosa .HE staining also showed that butyrate significantly attenu-ated the pathological damage of the gastric mucosa induced by ethanol .Compared with model group , the mRNA levels of inflammatory factors IL-12, RAN1 and MCP-1 in butyrate group significantly decreased (P<0.01).In butyrate group, the protein level of Bax was obviously decreased compared with model group (P<0.01), while the protein level of Bcl-2 was significantly increased ( P<0.01 ) .CONCLUSION: The gastric mucosa protective metabolite of C.butyricum may be butyric acid , not hydrogen .Butyric acid protects the gastric mucosa against ethanol-induced lesion by inhibiting the inflam- mation and reducing the expression ratio of Bax/Bcl-2.
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Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight neonates with hypotonia were eliminated according to exclusion criteria and 97 were confirmed using traditional detection methods. The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS). Among the 89 tested neonates, 25 potentially pathogenic variants in nine genes (RYR1, MECP2, MUT, CDKL5, MPZ, PMM2, MTM1, LAMA2 and DMPK) were identified in 22 patients. Six of these pathogenic variants were novel. Of the 186 neonates with hypotonia, we identified the genetic causes for 117 neonates by the traditional detection methods and targeted NGS, achieving a high solving rate of 62.9%. In addition, we found seven neonates with RETT syndrome carrying five mutations, thus expanding the mutation profiles in Chinese neonates with hypotonia. Our study highlights the utility of comprehensive molecular genetic testing, which provides the advantage of speed and diagnostic specificity without invasive procedures.
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Sequenciamento de Nucleotídeos em Larga Escala , Hipotonia Muscular/diagnóstico , Doenças Neuromusculares/diagnóstico , Síndrome de Rett/diagnóstico , China , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Hipotonia Muscular/genética , Hipotonia Muscular/patologia , Mutação , Doenças Neuromusculares/genética , Doenças Neuromusculares/patologia , Patologia Molecular/métodos , Síndrome de Rett/genética , Síndrome de Rett/patologiaRESUMO
To compare differences in metabolites between newborns with intrauterine growth restriction (IUGR) and those who are appropriate for gestational age (AGA) in order to understand the changes in metabolites of newborns with IUGR and to explore the possible metabolic mechanism of tissue and organ damages in patients with IUGR, with the ultimate goal of providing the basis for clinical intervention.A total of 60 newborns with IUGR and 60 AGA newborns who were hospitalized in the neonatal intensive care unit of our hospital between January 2011 and December 2015 and who underwent metabolic disease screening were enrolled in this study. The differences in 21 amino acids and 55 carnitines in peripheral blood, as well as changes in the ratios of free carnitine and acylcarnitine to total carnitine, were compared.Metabolites, particularly alanine, homocysteine, leucine, methionine, ornithine, serine, tyrosine, isovaleryl carnitine, and eicosenoyl carnitine, differed according to newborns' birth weight (<3rd percentile, 3rd-5th percentiles, 5th-10th percentiles, and 10th-90th percentiles), with those with lower birth weight showing the greater difference (Pâ<â0.05). Metabolites also differed by gestational age, and the differences observed were mainly as follows: preterm and full-term newborns showed differences in metabolites, mainly in alanine, proline, cerotoyl carnitine, and tetradecanedioyl carnitine (Pâ<â0.05); preterm and full-term AGA newborns showed differences in metabolites, mainly in alanine, glutamine, homocysteine, pipecolic acid, proline, heptanoyl carnitine, and sebacoyl carnitine (Pâ<â0.05); and preterm and full-term newborns with IUGR showed differences in metabolites, mainly in arginine, glutamic acid, homocysteine, histidine, leucine, isoleucine, ornithine, serine, threonine, tryptophan, valine, heptanoyl carnitine, decanoyl carnitine, linoleyl carnitine, methylmalonyl carnitine, glutarylcarnitine, sebacoyl carnitine, hydroxyacetyl carnitine, and hydroxyhexadecancenyl carnitine (Pâ<â0.05). Among newborns with IUGR, metabolites differed among males and females, mainly in aspartic acid, glutamic acid, and hexacosenoic acid (Pâ<â0.05). Birth weight had no significant effects on free carnitine concentration or on the ratios of free carnitine and acylcarnitine to total carnitine (Pâ<â0.05).IUGR infants exhibit significant abnormalities in amino acid and acylcarnitine metabolism, especially those with birth weight below the third percentile. With increasing birth weight, amino acids and acylcarnitines showed compensatory increases or reductions, and when birth weight reached the 10th percentile, the newborns with IUGR resembled the AGA newborns.
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Retardo do Crescimento Fetal/fisiopatologia , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/fisiopatologia , Metabolômica/métodos , Aminoácidos/sangue , Carnitina/análogos & derivados , Carnitina/sangue , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Masculino , Triagem Neonatal , Valores de Referência , PesquisaRESUMO
KEY MESSAGE: In this study, Rpp6907, a novel resistance gene/allele to Phakopsora pachyrhizi in soybean, was mapped in a 111.9-kb region, including three NBS-LRR type predicted genes, on chromosome 18. Soybean rust caused by Phakopsora pachyrhizi Sydow has been reported in numerous soybean-growing regions worldwide. The development of rust-resistant varieties is the most economical and environmentally safe method to control the disease. The Chinese soybean germplasm SX6907 is resistant to P. pachyrhizi and exhibits immune reaction compared with the known Rpp genes. These characteristics suggest that SX6907 may carry at least one novel Rpp gene/allele. Three F2 populations from the crosses of SX6907 (resistant) and Tianlong 1, Zhongdou40, and Pudou11 (susceptible) were used to map the Rpp gene. Three resistance responses (immune, red-brown, and tan-colored lesion) were observed from the F2 individuals. The segregation follows a ratio of 1(resistance):2(heterozygous):1(susceptible), indicating that the resistance in SX6907 is controlled by a single incomplete dominant gene (designated as Rpp6907). Results showed that Rpp6907 was mapped on soybean chromosome 18 (molecular linkage group G, MLG G) flanked by simple sequence repeat (SSR) markers SSR24 and SSR40 at a distance of 111.9 kb. Among the ten genes marked within this 111.9-kb region between the two markers, three genes (Glyma18g51930, Glyma18g51950, and Glyma18g51960) are nucleotide-binding site and leucine-rich repeat-type genes. These genes may be involved in recognizing the presence of pathogens and ultimately conferring resistance. Based on resistance spectrum analysis and mapping results, we inferred that Rpp6907 is a novel gene different from Rpp1 in PI 200492, PI 561356, PI 587880A, PI 587886, and PI 594538A, or a new Rpp1-b allele.