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BACKGROUND: Children in the intensive care unit (ICU) who suffer from severe basic diseases and low immunity are usually in critical condition. It is crucial to assist clinicians in selecting the appropriate empirical antibiotic therapies for clinical infection control. METHODS: We retrospectively analyzed data from 281 children with bloodstream infection (BSI). Comparisons of basic data, pathogenic information, and drug resistance of the main bacteria were conducted. RESULTS: We detected 328 strains, including Gram-positive bacteria (223, 68%), mainly coagulase-negative Staphylococci (CoNS); Gram-negative bacteria (91, 27.7%); and fungi (14, 4.3%). The results of the binary logistic regression analysis showed that the main basic disease was an independent risk factor for death. Compared with Escherichia coli, Klebsiella pneumoniae exhibited a higher proportion of extended-spectrum ß-lactamases (ESBLs), and its resistance to some ß-lactamides and quinolones antibiotics were lower. Twenty-seven isolates of multidrug-resistant (MDR) bacteria were detected, of which carbapenem-resistant Acinetobacter baumannii (CRAB) accounted for the highest proportion (13, 48.2%). CONCLUSIONS: CoNS was the principal pathogen causing BSI in children in the ICU of children, and Escherichia coli was the most common Gram-negative pathogen. The main basic disease was an independent risk factor for death. It is necessary to continuously monitor patients with positive blood cultures, pay special attention to detected MDR bacteria, and strengthen the management of antibiotics and prevention and control of nosocomial infections.
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Carbapenem-resistant Acinetobacter baumannii (CRAB) appeared more frequently in children and caused a great threat to global public health. It is urgent to investigate the carbapenem resistance and virulence of CRAB for clinicians to choose appropriate antibiotics. A retrospective study of 77 nonduplicated CRAB isolates was conducted. The carbapenem resistance and virulence genes were characterized by polymerase chain reaction (PCR) and gel electrophoresis. In the present study, A. baumannii mainly came from the intensive care unit and was mostly isolated from sputum samples. The carbapenem resistant rate of A. baumannii in 2018-2020 increased significantly compared with that in 2016-2017. All isolates had carbapenem resistant genes. They were highly resistant to a variety of antibiotics but were relatively sensitive to fluoroquinolones and tetracyclines. blaVIM and blaOXA-23 were detected in all isolates, whereas blaOXA-51, blaIMP and blaNDM were present in 98.70%, 67.53% and 31.17% of isolates, respectively. Notably, 1 isolate A. baumannii was identified as multidrug-resistant A. baumannii (MDR-AB), and 76 other extensively drug-resistance (XDR) isolates were also detected. Virulence genes were present in 100% of all isolates, including genes in the iron acquisition system (basJ), secretion systems (ompA, plcD), quorum sensing system (abaI) and biofilm formation (csuA). adeH, pgaA, and ptk were present in 98.70%, 98.70% and 94.80% of isolates, respectively. CRAB, which is prevalent in east China, carries a large number of drug resistance and virulence genes. Fluoroquinolones and tetracyclines may be effective antibiotics for the treatment of CRAB infection in children. An in-depth understanding of the resistance and virulence of CRAB is conducive to timely guiding empirical drug use and controlling infection.
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Infecções por Acinetobacter , Acinetobacter baumannii , Criança , Humanos , Infecções por Acinetobacter/epidemiologia , Infecções por Acinetobacter/tratamento farmacológico , Virulência/genética , beta-Lactamases/genética , beta-Lactamases/análise , Estudos Retrospectivos , Testes de Sensibilidade Microbiana , Carbapenêmicos/farmacologia , Carbapenêmicos/uso terapêutico , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Fluoroquinolonas/farmacologia , Tetraciclinas/farmacologia , Tetraciclinas/uso terapêutico , Proteínas de Bactérias/genética , Farmacorresistência Bacteriana Múltipla/genéticaRESUMO
BACKGROUND: Immune thrombocytopenia (ITP) is the most common etiology of acquired thrombocytopenia diseases in children. ITP is characterized by the immune-mediated decreased formation and excessive destruction of platelets. The pathogenesis and management of pediatric ITP are distinct from adult ITP. A disintegrin and metalloproteinase 17 (ADAM17) mediates the shedding of platelet receptor glycoprotein Ib α (GPIb α) in extracellular domain, functioning in the platelet activation and clearance. Our study aims to probe the roles and mechanisms of ADAM17 in pediatric ITP. METHODS: The differently expressed ADAM17 in megakaryocytes was obtained from children with ITP through the next-generation RNA-Sequence. Hematoxylin-eosin and Giemsa staining were performed for cell morphology identification. Flow cytometry was applied to assess autoantibodies against platelets, subtypes of lymphocytes, the surface expression level of ADAM17 and polyploidization of megakaryocytes, as well as the full-length GP Ib α. RESULTS: ADAM17 was significantly downregulated in megakaryocytes and platelets in children with ITP. Higher values of PDW and positive autoantibodies presence were observed in children with ITP. Loss of ADAM17 in mice led to defects in proplatelet formation and significantly elevated expression of phosphorylated myosin light chain (p-MLC) in megakaryocytes. CONCLUSIONS: Our study indicated that the downregulation of ADAM17 might be an innate cause of inefficient platelet production in pediatric ITP.
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Púrpura Trombocitopênica Idiopática , Trombocitopenia , Proteína ADAM17/genética , Proteína ADAM17/metabolismo , Animais , Plaquetas/metabolismo , Criança , Regulação para Baixo , Humanos , Megacariócitos/patologia , Camundongos , Púrpura Trombocitopênica Idiopática/metabolismo , Púrpura Trombocitopênica Idiopática/patologiaRESUMO
Tumor cells express a high quantity of exosomes packaged with unique cargos under hypoxia, an important characteristic feature in solid tumors. These hypoxic tumor-derived exosomes are, crucially, involved in the interaction of cancer cells with their microenvironment, facilitating not only immune evasion, but increased cell growth and survival, enhanced angiogenesis, epithelial-mesenchymal transition (EMT), therapeutic resistance, autophagy, pre-metastasis, and metastasis. This paper explores the tumor microenvironment (TME) remodeling effects of hypoxic tumor-derived exosome towards facilitating the tumor progression process, particularly, the modulatory role of these factors on tumor cell immune evasion through suppression of immune cells, expression of surface recognition molecules, and secretion of antitumor soluble factor. Tumor-expressed exosomes educate immune effector cells, including macrophages, monocytes, T cells, natural killer (NK) cells, dendritic cells (DCs), γδ T lymphocytes, regulatory T cells (Tregs), myeloid-derived suppressor cells (MDSCs), mast cells, and B cells, within the hypoxic TME through the release of factors that regulate their recruitment, phenotype, and function. Thus, both hypoxia and tumor-derived exosomes modulate immune cells, growth factors, cytokines, receptor molecules, and other soluble factors, which, together, collaborate to form the immune-suppressive milieu of the tumor environment. Exploring the contribution of exosomal cargos, such as RNAs and proteins, as indispensable players in the cross-talk within the hypoxic tumor microenvironmental provides a potential target for antitumor immunity or subverting immune evasion and enhancing tumor therapies.
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Exossomos , Neoplasias , Citocinas/metabolismo , Exossomos/metabolismo , Humanos , Hipóxia/metabolismo , Evasão da Resposta Imune , Neoplasias/metabolismo , Microambiente Tumoral/genéticaRESUMO
The development of multifunctional nanomaterials has received growing research interest, thanks to its ability to combine multiple properties for severing highly demanding purposes. In this work, holmium oxide nanoparticles are synthesized and characterized by various tools including XRD, XPS, and TEM. These nanoparticles are found to emit near-infrared fluorescence (800-1100 nm) under a 785 nm excitation source. Imaging of the animal tissues was demonstrated, and the maximum imaging depth was found to be 2.2 cm. The synthesized nanoparticles also show the capability of facilitating dye (fluorescein sodium salt and rhodamine 6G) degradation under white light irradiation. The synthesized holmium oxide nanoparticles are envisioned to be useful for near-infrared tissue imaging and dye-degradation.
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Nanopartículas , Óxidos , Animais , Hólmio , Luz , FotóliseRESUMO
It has been demonstrated that neural precursor cell expressed developmentally downregulated protein (NEDD) plays crucial roles in tumorigenesis and may serve as potential biomarkers in cancer diagnosis and prognosis. However, few studies systematically investigated the expression of NEDD family members in acute myeloid leukaemia (AML). We systemically determined the expression of NEDD family members in AML and determined their clinical significance. We identified that NEDD9 expression was the only member among NEDD family which was significantly increased in AML. NEDD9 overexpression was more frequently classified as FAB-M4/M5 (p = 0.008 and 0.013, respectively), hardly as FAB-M2/M3. Moreover, NEDD9 overexpression was significantly associated with complex karyotype and TP53 mutation. The significant association between NEDD9 overexpression and survival was also observed in whole-cohort AML and non-M3 AML patients. Notably, AML patients with NEDD9 overexpression may benefit from hematopoietic stem cell transplantation (HSCT), whereas those cases without NEDD9 overexpression did not. Finally, a total of 822 mRNAs and 31 microRNAs were found to be differentially expressed between two groups. Among the microRNAs, miR-381 was also identified as a microRNA that could direct target NEDD9. Taken together, our findings demonstrated that NEDD9 overexpression is associated with genetic abnormalities as well as prognosis and might act as a potential biomarker guiding the choice between HSCT and chemotherapy in patients with AML after achieving complete remission.
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Proteínas Adaptadoras de Transdução de Sinal/genética , Biomarcadores Tumorais , Expressão Gênica , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/mortalidade , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biologia Computacional/métodos , Bases de Dados Genéticas , Diagnóstico Diferencial , Feminino , Perfilação da Expressão Gênica , Humanos , Estimativa de Kaplan-Meier , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/terapia , Masculino , Pessoa de Meia-Idade , Prognóstico , Transcriptoma , Adulto JovemRESUMO
A 13-valent pneumococcal conjugate vaccine against invasive pneumococcal disease (IPD) was introduced in China in April 2017. We describe 105 children <5 years of age who were hospitalized for IPD at Soochow University Affiliated Children's Hospital in Suzhou, China, during January 2010-December 2017. We calculated the incidence of hospitalization for IPD as 14.55/100,000 children in Suzhou. We identified 8 different capsular serotypes: 6B (28.4% of cases), 14 (18.9% of cases), 19A (18.9% of cases), 19F (12.2% of cases), 23F (10.8% of cases), 20 (4.1% of cases), 9V (4.1% of cases), and 15B/C (2.7% of cases). These results provide baseline data of IPD before the introduction of this vaccine in China, enabling researchers to better understand its effects on IPD incidence.
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Infecções Pneumocócicas , Streptococcus pneumoniae , Criança , Pré-Escolar , China/epidemiologia , Hospitalização , Humanos , Incidência , Lactente , Infecções Pneumocócicas/epidemiologia , Infecções Pneumocócicas/prevenção & controle , Vacinas Pneumocócicas , Vacinas ConjugadasRESUMO
Lung cancer is the leading cause of cancer-associated deaths accounting for 24% of all cancer deaths. As a crucial phase of tumor progression, lung cancer metastasis is linked to over 70% of these mortalities. In recent years, exosomes have received increasing research attention in their role in the induction of carcinogenesis and metastasis in the lung. In this review, recent studies on the contribution of exosomes to lung cancer metastasis are discussed, particularly highlighting the role of lung tumor-derived exosomes in immune system evasion, epithelial-mesenchymal transition, and angiogenesis, and their involvement at both the pre-metastatic and metastatic phases. The clinical application of exosomes as therapeutic drug carriers, their role in antitumor drug resistance, and their utility as predictive biomarkers in diagnosis and prognosis are also presented. The metastatic activity, a complex multistep process of cancer cell invasion, survival in blood vessels, attachment and subsequent colonization of the host's organs, is integrated with exosomal effects. Exosomes act as functional mediating factors in cell-cell communication, influencing various steps of the metastatic cascade. To this end, lung cancer cell-derived exosomes enhance cell proliferation, angiogenesis, and metastasis, regulate drug resistance, and antitumor immune activities during lung carcinogenesis, and are currently being explored as an important component in liquid biopsy assessment for diagnosing lung cancer. These nano-sized extracellular vesicles are also being explored as delivery vehicles for therapeutic molecules owing to their unique properties of biocompatibility, circulatory stability, decreased toxicity, and tumor specificity. The current knowledge of the role of exosomes highlights an array of exosome-dependent pathways and cargoes that are ripe for exploiting therapeutic targets to treat lung cancer metastasis, and for predictive value assessment in diagnosis, prognosis, and anti-tumor drug resistance.
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Exossomos , Neoplasias Pulmonares , Resistencia a Medicamentos Antineoplásicos , Transição Epitelial-Mesenquimal , Humanos , Biópsia Líquida , Neoplasias Pulmonares/patologia , Metástase Neoplásica/patologiaRESUMO
BACKGROUND: Bronchiolitis is a clinical syndrome commonly encountered in practice, particularly among infants and young children. To investigate the prevalence of pathogens in hospitalized children with bronchiolitis and study the clinical characteristics of bronchiolitis with or without coinfections. METHODS: We investigated the respiratory specimens and clinical data of 1012 children with bronchiolitis who were treated at the Children's Hospital of Soochow University between November 2011 and December 2018. The nasopharyngeal aspirates were examined to detect viruses by direct immunofluorescence assay or polymerase chain reaction (PCR). Mycoplasma pneumoniae (MP) was tested by PCR and enzyme-linked immunosorbent assay. RESULTS: Of the 1134 children less than 2 years with bronchiolitis, 122 were excluded by exclusion criteria. Causative pathogen was detected in 83.2% (842 of 1012). The majority of these (614 [72.9%] of 842) were single virus infection. The most common pathogens detected were respiratory syncytial virus (RSV) (44.4%), MP (15.6%), and human rhinovirus (HRV) (14.4%). Coinfection was identified in 13.5% (137 of 1012) of the patients. Coinfection included mixed virus infection and virus infection with MP infection. Children with single virus infection had a higher rate of oxygen therapy compared with single MP infection. CONCLUSIONS: The most common pathogen detected in children with bronchiolitis is RSV, followed by MP and HRV. Coinfection leads to a longer period of illness, increased severity of the symptoms and increased risk of hypoxemia.
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Bronquiolite/virologia , Criança Hospitalizada , Coinfecção/epidemiologia , Viroses/epidemiologia , Pré-Escolar , China/epidemiologia , Enterovirus/isolamento & purificação , Feminino , Técnica Direta de Fluorescência para Anticorpo , Humanos , Lactente , Masculino , Mycoplasma pneumoniae/isolamento & purificação , Reação em Cadeia da Polimerase , Prevalência , Vírus Sincicial Respiratório Humano/isolamento & purificação , Estudos Retrospectivos , Centros de Atenção TerciáriaRESUMO
BACKGROUND: Infants with bronchiolitis have an increased risk of developing recurrent wheezing and asthma. However, the risk factors for the development of recurrent wheezing after bronchiolitis remains controversial. Our study was to investigate risk factors of post-bronchiolitis recurrent wheezing. METHODS: Infants with bronchiolitis were enrolled from November 2016 through March 2017. Nasopharyngeal aspirates were obtained for detection of respiratory viruses which were analyzed by reverse transcriptase polymerase chain reaction (RT-PCR) and direct immunofluorescent assay. Serum cytokines including TSLP, IL2, IL13, TIMP-1, MMP-9, IL33, IL5, IL4, IL25, TNF- α and MIP-1α were measured by flow cytometry. Patients were followed up every 3 months for a duration of 2 years by telephone or at outpatient appointments. RESULTS: We enrolled 89 infants, of which 81 patients were successfully followed up. In total, 22.2% of patients experienced recurrent wheezing episodes. The proportion of patients with history of eczema, systemic glucocorticoid use and patients with moderate-to-severe disease were significantly higher in the recurrent wheezing group than the non-recurrent wheezing group (83.3% vs 52.4%; 66.7% vs 36.5%; 61.1% vs 33.3%, respectively, all P < 0.05); There were no significant differences between patients with and without recurrent wheezing episodes in the levels of TSLP, IL2, IL13, TIMP-1, MMP-9, IL33, IL5, IL4, IL25, TNF- α and MIP-1α (P > 0.05). Logistic regression analysis showed that history of eczema was an independent risk factor for post-bronchiolitis recurrent wheezing (odds ratio [OR] = 5.622; 95% confidence interval [CI], 1.3-24.9; P = 0.023). CONCLUSION: The incidence of recurrent wheezing among infants after contracting bronchiolitis was 22.2% during a 2-year follow-up. History of eczema was the only independent risk factor identified and no correlation was found between the specific virus and disease severity in children with post-bronchiolitis recurrent wheezing.
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Bronquiolite/fisiopatologia , Sons Respiratórios , Bronquiolite/virologia , China , Citocinas/sangue , Eczema/complicações , Feminino , Seguimentos , Glucocorticoides/efeitos adversos , Humanos , Incidência , Lactente , Masculino , Recidiva , Sons Respiratórios/etiologia , Fatores de Risco , Soro , Fator de Necrose Tumoral alfa/sangueRESUMO
BACKGROUND AND AIMS: Endoscopic diagnosis of early esophageal squamous cell cancer (ESCC) is complicated and dependent on operators' experience. This study aimed to develop an artificial intelligence (AI) model for automatic diagnosis of early ESCC. METHODS: Non-magnifying and magnifying endoscopic images of normal/noncancerous lesions, early ESCC, and advanced esophageal cancer (AEC) were retrospectively obtained from Qilu Hospital of Shandong University. A total of 10,988 images from 5075 cases were chosen for training and validation. Another 2309 images from 1055 cases were collected for testing. One hundred and four real-time videos were also collected to evaluate the diagnostic performance of the AI model. The diagnostic performance of the AI model was compared with endoscopists by magnifying images and the assistant efficiency of the AI model for novices was evaluated. RESULTS: The AI diagnosis for non-magnifying images showed a per-patient accuracy, sensitivity, and specificity of 99.5%, 100%, 99.5% for white light imaging, and 97.0%, 97.2%, 96.4% for optical enhancement/iodine straining images. Regarding diagnosis for magnifying images, the per-patient accuracy, sensitivity, and specificity were 88.1%, 90.9%, and 85.0%. The diagnostic accuracy of the AI model was similar to experts (84.5%, P = 0.205) and superior to novices (68.5%, P = 0.005). The diagnostic performance of novices was significantly improved by AI assistance. When it comes to the diagnosis for real-time videos, the AI model showed acceptable performance as well. CONCLUSIONS: The AI model could accurately recognize early ESCC among noncancerous mucosa and AEC. It could be a potential assistant for endoscopists, especially for novices.
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Carcinoma de Células Escamosas , Neoplasias Esofágicas , Inteligência Artificial , Carcinoma de Células Escamosas/diagnóstico por imagem , Neoplasias Esofágicas/diagnóstico por imagem , Humanos , Imagem de Banda Estreita , Estudos RetrospectivosRESUMO
BACKGROUND AND AIMS: Quality control can decrease variations in the performance of colonoscopists and improve the effectiveness of colonoscopy to prevent colorectal cancers. Unfortunately, routine quality control is difficult to carry out because a practical method is lacking. The aim of this study was to develop an automatic quality control system (AQCS) and assess whether it could improve polyp and adenoma detection in clinical practice. METHODS: First, we developed AQCS based on deep convolutional neural network models for timing of the withdrawal phase, supervising withdrawal stability, evaluating bowel preparation, and detecting colorectal polyps. Next, consecutive patients were prospectively randomized to undergo routine colonoscopies with or without the assistance of AQCS. The primary outcome of the study was the adenoma detection rate (ADR) in the AQCS and control groups. RESULTS: A total of 659 patients were enrolled and randomized. A total of 308 and 315 patients were analyzed in the AQCS and control groups, respectively. AQCS significantly increased the ADR (0.289 vs 0.165, P < .001) and the mean number of adenomas per procedure (0.367 vs 0.178, P < .001) compared with the control group. A significant increase was also observed in the polyp detection rate (0.383 vs 0.254, P = .001) and the mean number of polyps detected per procedure (0.575 vs 0.305, P < .001). In addition, the withdrawal time (7.03 minutes vs 5.68 minutes, P < .001) and adequate bowel preparation rate (87.34% vs 80.63%, P = .023) were superior for the AQCS group. CONCLUSIONS: AQCS could effectively improve the performance of colonoscopists during the withdrawal phase and significantly increase polyp and adenoma detection. (Clinical trial registration number: NCT03622281.).
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Adenoma/diagnóstico , Pólipos do Colo/diagnóstico , Colonoscopia/normas , Neoplasias Colorretais/diagnóstico , Processamento de Imagem Assistida por Computador/métodos , Controle de Qualidade , Adenoma/patologia , Pólipos Adenomatosos/diagnóstico , Pólipos Adenomatosos/patologia , Adulto , Automação , Pólipos do Colo/patologia , Colonoscopia/métodos , Neoplasias Colorretais/patologia , Sistemas Computacionais , Aprendizado Profundo , Detecção Precoce de Câncer , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Redes Neurais de ComputaçãoRESUMO
BACKGROUND: The aim of the study was to identify the pathogens, in addition to bordetella pertussis (B. pertussis), which cause pertussis-like syndrome in children and to compare clinical presentation between those with B. pertussis and pertussis-like syndrome. METHODS: A cross-sectional analysis was conducted from March 2016 to September 2018. In total, 281 children with suspected pertussis infections were enrolled in this study. Multi-pathogen detection was performed. RESULTS: In total, 281 children were enrolled including 139 males and 142 females. Among them, 149 (53.0%) were B. pertussis positive, and 72 (15.6%) children tested positive for other pathogens. Mycoplasma pneumoniae (MP, 27 cases) was the most common causative pathogen in pertussis-like syndrome, followed by human rhinovirus (HRV, 23 cases), Streptococcus pneumoniae (SP, 13 cases), Haemophilus influenzae (HI, 12 cases) and parainfluenza virus 3 (Pinf-3, 9 cases). Children in the B. pertussis group had a higher rate of vaccination and longer hospital stay (P < 0.05). B. pertussis was more likely to be detected in winter than other pathogens, but this difference was not significant (P = 0.074). The number of white blood cells, neutrophils and blood platelets was significantly higher in children in the B. pertussis than in the pertussis-like group (P < 0.05). In addition, the percentage of CD3-CD19+ cells was significantly higher in the B. pertussis group (P = 0.018). CONCLUSION: About half of the children with pertussis-like syndrome were B. pertussis positive. MP was the second most common causative pathogen followed by HRV, SP, HI and Pinf-3. Children infected with B. pertussis had longer hospital stay and higher numbers of white blood cells, neutrophil and blood platelets compared with other pathogens.
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Bordetella pertussis/genética , Haemophilus influenzae/genética , Mycoplasma pneumoniae/genética , Vírus da Parainfluenza 3 Humana/imunologia , Rhinovirus/genética , Streptococcus pneumoniae/genética , Coqueluche/diagnóstico , Criança , Pré-Escolar , Estudos Transversais , Feminino , Imunofluorescência , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Contagem de Leucócitos , Masculino , Neutrófilos , Contagem de Plaquetas , Reação em Cadeia da Polimerase em Tempo Real , Síndrome , Coqueluche/virologiaRESUMO
Aptamers are chemically synthetic single-stranded DNA or RNA molecules selected by molecular evolution. They have been widely used as attractive tools in biosensing and bioimaging because they can bind to a large variety of targets with high sensitivity and high affinity and specificity. As recognition elements, aptamers contribute in particular to cancer diagnostics by recognizing different cancer biomarkers, while they can also facilitate ultrasensitive detection by further employing signal amplification elements. Optical techniques have been widely used for direct and real-time monitoring of cancer-related biomolecules and bioprocesses due to the high sensitivity, quick response, and simple operation, which has greatly benefited cancer diagnostics. In this review, we highlight recent advances in optical platform-based sensing strategies for cancer diagnostics aided by aptamers. Limitations and current challenges are also discussed.
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Aptâmeros de Nucleotídeos/análise , Técnicas Biossensoriais/métodos , Neoplasias/diagnóstico , Óptica e Fotônica/métodos , Técnica de Seleção de Aptâmeros/métodos , Biomarcadores Tumorais/análise , HumanosRESUMO
OBJECTIVE: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH). RESULTS: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3. CONCLUSION: Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.
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Cromossomos Humanos Y/genética , Variações do Número de Cópias de DNA , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Criança , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Masculino , Polimorfismo de Nucleotídeo ÚnicoRESUMO
MicroRNA-340 (miR-340) was considered as a tumor suppressor by affecting cancer cell proliferation, apoptosis, invasion, and migration, and was downregulated in diverse cancers. Moreover, dysregulation of miR-340 was also found to be associated with drug resistance and predicted patients' survival in various cancers. Herein, we investigated miR-340 expression and its clinical significance in acute myeloid leukemia (AML). Real-time quantitative polymerase chain reaction was performed to detect miR-340 expression in bone marrow (BM) from 99 newly diagnosed AML patients except for acute promyelocytic leukemia (APL), 19 AML patients achieved complete remission (CR), and 29 healthy donors. BM miR-340 expression was significantly underexpressed in newly diagnosed AML patients as compared with controls (p = 0.031) and AML patients achieved CR (p = 0.025). No significant differences were observed between miR-340 expression and most of the clinicopathologic features (p > 0.05). However, low miR-340 expression was found to be associated with lower CR rate in both non-APL-AML and cytogenetically normal AML (CN-AML; p = 0.001 and 0.031, respectively), and acted as an independent risk factor for CR by logistic regression analysis (p = 0.001 and 0.021, respectively). More important, among both non-APL-AML and CN-AML, low expression of miR-340 was also associated with shorter overall survival (OS; p = 0.013 and 0.005, respectively), and was further validated by Cox regression (p = 0.031 and 0.039, respectively). Collectively, our study showed that BM miR-340 expression was downregulated in AML, and low expression of miR-340 correlated with adverse prognosis.
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Biomarcadores Tumorais/genética , Leucemia Mieloide Aguda/genética , MicroRNAs/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Regulação para Baixo , Feminino , Humanos , Leucemia Mieloide Aguda/terapia , Masculino , Pessoa de Meia-Idade , Indução de Remissão , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
To investigate the impact of viral and bacterial co-infection in hospitalised children with Mycoplasma pneumoniae pneumonia (RMPP). Retrospective analysis of 396 children with RMPP in our hospital admitted between 1 January 2011 and 31 December 2016 was performed. Nasal aspirate samples were collected for pathogen detection and clinical data were collected. We analysed clinical characteristics, lung imaging characteristics and pathogenic species among these children. Of the 396 RMPP cases, 107 (27.02%) had co-infection with other pathogen, with Streptococcus pneumoniae, Haemophilus influenzae and Staphylococcus aureus being the most common bacteria of infection and human bocavirus (HBoV), human rhinovirus, respiratory syncytial virus being the most common viruses of infection. Children with co-infection were younger than that with single infection (P = 0.010). Children with both virus and bacteria co-infection had been the youngest (P = 0.040). Children with co-infection had a longer fever process, higher leukocyte count, higher C-reactive protein compared with single infection (P < 0.05). Children with co-infection had a higher percentage of pnemothorax and diffuse large area of inflammation in chest X-ray manifestation compared with children with single infection (P < 0.05). S. pneumonia and HBoV was the leading cause of co-infection in RMPP. Co-infections led to more disease severity in children with RMPP compared with single infections.
Assuntos
Infecções Bacterianas/complicações , Coinfecção , Pneumonia por Mycoplasma/complicações , Viroses/complicações , Distribuição por Idade , Anticorpos Antibacterianos/isolamento & purificação , Infecções Bacterianas/microbiologia , Criança , Pré-Escolar , Feminino , Haemophilus influenzae/isolamento & purificação , Bocavirus Humano/genética , Bocavirus Humano/isolamento & purificação , Humanos , Imunoglobulina M/isolamento & purificação , Lactente , Pacientes Internados , Masculino , Metapneumovirus/genética , Metapneumovirus/isolamento & purificação , Nasofaringe/virologia , RNA Ribossômico 16S/genética , Radiografia Torácica , Reação em Cadeia da Polimerase em Tempo Real/métodos , Estudos Retrospectivos , Rhinovirus/genética , Rhinovirus/isolamento & purificação , Estações do Ano , Staphylococcus aureus/isolamento & purificação , Streptococcus pneumoniae/isolamento & purificação , Viroses/virologiaRESUMO
BACKGROUND: Co-infections are common in childhood community acquired pneumonia (CAP). However, their etiological pattern and clinical impact remains inconclusive. METHODS: Eight hundred forty-six consecutive children with CAP were evaluated prospectively for the presence of viral and bacterial pathogens. Nasopharyngeal aspirates were examined by direct immunofluorescence assay or polymerase chain reaction (PCR) for viruses. PCR of nasopharyngeal aspirates and enzyme-linked immunosorbent assays were performed to detect M. pneumoniae. Bacteria was detected in blood, bronchoalveolar lavage specimen, or pleural fluid by culture. RESULTS: Causative pathogen was identified in 70.1% (593 of 846) of the patients. The most commonly detected pathogens were respiratory syncytial virus (RSV) (22.9%), human rhinovirus (HRV) (22.1%), M. pneumoniae (15.8%). Coinfection was identified in 34.6% (293 of 846) of the patients. The majority of these (209 [71.3%] of 293) were mixed viral-bacterial infections. Age < 6 months (odds ratio: 2.1; 95% confidence interval: 1.2-3.3) and admission of PICU (odds ratio: 12.5; 95% confidence interval: 1.6-97.4) were associated with mix infection. Patients with mix infection had a higher rate of PICU admission. CONCLUSIONS: The high mix infection burden in childhood CAP underscores a need for the enhancement of sensitive, inexpensive, and rapid diagnostics to accurately identify pneumonia pathogens.
Assuntos
Coinfecção , Infecções Comunitárias Adquiridas , Pneumonia , Adolescente , Criança , Pré-Escolar , China/epidemiologia , Coinfecção/epidemiologia , Coinfecção/microbiologia , Coinfecção/virologia , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/virologia , Feminino , Humanos , Lactente , Masculino , Mycoplasma pneumoniae , Pneumonia/epidemiologia , Pneumonia/microbiologia , Pneumonia/virologia , Vírus Sincicial Respiratório Humano , RhinovirusRESUMO
To compare the presence of human bocavirus (HBoV) in nasopharyngeal aspirates (NPA) versus broncho-alveolar lavage fluids (BAL) in children with lower respiratory tract infections (LRTIs), as revealed by real-time PCR, in order to confirm the diagnostic validity of NPA samples. A retrospective 5-year study was performed from 2009 to 2014 in 1,194 patients under the age of 17 years (mean age of 3 years) that were diagnosed with LRTIs and from whom both NPA and BAL were obtained. Clinical and demographic data were recorded, and NPA and BAL samples were analyzed for HBoV-positivity by real-time PCR. Of the 1,194 patients enrolled, 65 (5.4%) patients had HBoV detected from NPA, and 61 (5.1%) had HBoV detected from BAL. For HBoV, there was a significant association between the NPA and BAL samples (P < 0.001), but the diagnostic validity was relatively low (kappa = 0.414). When real-time PCR-positivity for HBoV in BAL was used as a reference for diagnosis, NPA had a good specificity and better positive predictive validity in male patients or those younger than 3 years of age. NPA has a similar yield and a good specificity for diagnosis of LRTIs with HBoV compared to BAL. The best diagnostic validity for NPA was detected in male patients or those younger than 3 years old.
Assuntos
Secreções Corporais/virologia , Líquido da Lavagem Broncoalveolar/virologia , Bocavirus Humano/isolamento & purificação , Nasofaringe/virologia , Infecções por Parvoviridae/diagnóstico , Infecções Respiratórias/diagnóstico , Manejo de Espécimes/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Infecções por Parvoviridae/virologia , Reação em Cadeia da Polimerase em Tempo Real/métodos , Infecções Respiratórias/virologia , Estudos RetrospectivosRESUMO
BACKGROUND: Wheezing is a common symptom in early childhood. However, refractory wheezing is difficult to treat, and it may thus account for extensive use of medical resources. It is therefore important to improve our understanding of the pathophysiology of refractory childhood wheezing. METHODS: In this descriptive study, we studied 156 children with refractory wheezing using fiberoptic bronchoscopy and bronchoalveolar lavage (BAL), and compared the results with a control group of 46 children with various pulmonary diseases but no wheezing. Etiology and cell classification were analyzed for each BAL sample. RESULTS: Overall, 21.8 % of children with refractory wheezing had airway malformations including tracheomalacia, airway stenosis, and tracheal bronchus. The incidence of airway malformations increased to 31 % in infants under 12 months of age. A significant increase in neutrophil ratio and decrease in macrophage ratio were observed in BAL from children with refractory wheezing compared with controls. Pathogen infection led to a higher ratio of neutrophils in the wheezing group compared with controls. However, there were no significant differences in neutrophil ratios among children with various pathogen infections. Furthermore, children with refractory wheezing had a high rate of Mycoplasma pneumoniae infection. CONCLUSIONS: Airway malformations might play an important role in children under 3 years of age with refractory wheezing, especially in infants under 12 months of age. Neutrophil-mediated airway inflammation was characteristic of refractory wheezing in children under 3 years of age. In addition, infections such as M. pneumoniae may aggravate airway inflammation and affect refractory wheezing.