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1.
BMC Infect Dis ; 23(1): 661, 2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37798699

RESUMO

BACKGROUND: Early evaluation of severe mycoplasma pneumoniae pneumonia (SMPP) and the prompt utilization of fiberoptic bronchoscopic manipulation can effectively alleviate complications and restrict the progression of sequelae. This study aim to establish a nomogram forecasting model for SMPP in children and explore an optimal early therapeutic bronchoalveolar lavage (TBAL) treatment strategy. METHODS: This retrospective study included children with mycoplasma pneumoniae pneumonia (MPP) from January 2019 to December 2021. Multivariate logistic regression analysis was used to screen independent risk factors for SMPP and establish a nomogram model. The bootstrap method was employed and a receiver operator characteristic (ROC) curve was drawn to evaluate the accuracy and robustness of the model. Kaplan-Meier analysis was used to assess the effect of lavage and hospitalization times. RESULTS: A total of 244 cases were enrolled in the study, among whom 68 with SMPP and 176 with non-SMPP (NSMPP). A prediction model with five independent risk factors: left upper lobe computed tomography (CT) score, sequential organ failure assessment (SOFA) score, acute physiology and chronic health assessment (APACHE) II score, bronchitis score (BS), and c-reactive protein (CRP) was established based on the multivariate logistic regression analysis. The ROC curve of the prediction model showed the area under ROC curve (AUC) was 0.985 (95% confidence interval (CI) 0.972-0.997). The Hosmer-Lemeshow goodness-of-fit test results showed that the nomogram model predicted the risk of SMPP well (χ2 = 2.127, P = 0.977). The log-rank result suggested that an early BAL treatment could shorten MPP hospitalization time (P = 0.0057). CONCLUSION: This nomogram model, based on the left upper lobe CT score, SOFA score, APACHE II score, BS, and CRP level, represents a valuable tool to predict the risk of SMPP in children and optimize the timing of TBAL.


Assuntos
Mycoplasma pneumoniae , Pneumonia por Mycoplasma , Criança , Humanos , Estudos Retrospectivos , Pneumonia por Mycoplasma/diagnóstico , Pneumonia por Mycoplasma/terapia , Lavagem Broncoalveolar , Nomogramas , Prognóstico
2.
J Perinat Med ; 48(3): 289-295, 2020 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-32083449

RESUMO

Background The aim of this study was to assess the normal values of the Smith-Madigan inotropy index (SMII) and oxygen delivery index (DO2I) in low-birth-weight (LBW) and very-low-birth-weight (VLBW) newborns on the first 3 days of life, and to identify how different degrees of maturity influence cardiovascular alterations during the transitional period compared with term neonates. Methods Twenty-eight VLBW newborns, 46 LBW newborns and 50 normal full-term newborns admitted to our department were studied. Hemodynamics of the left heart were measured in all neonates over the first 3 days using the Ultrasonic Cardiac Output Monitor (USCOM). This was combined with hemoglobin concentration and pulse oximetry to calculate DO2I. Blood pressure was combined with the hemodynamic measures and hemoglobin concentration to calculate SMII. Results SMII showed statistically significant differences among the three groups (VLBW 0.48 ± 0.11; LBW 0.54 ± 0.13; term 0.69 ± 0.17 W/m2 P < 0.001), which was in line with the following myocardial parameters: stroke volume index (SVI) and cardiac index (CI) (P < 0.001 and <0.001). For systemic oxygen delivery (DO2) parameters, significant differences were found for DO2I (P < 0.001) while hemoglobin concentration and pulse oximetry demonstrated no significant differences. In the VLBW group, SMII and DO2I showed no significant change over the 3 days. Conclusion Normal inotropy and systemic DO2I values in VLBW neonates over the first 3 days of life were assessed. SMII and DO2I were significantly lower in VLBW neonates during the first 72 h of life. With increasing birth weight, higher myocardial inotropy and DO2 were found. The addition of USCOM examination to standard neonatal echocardiography may provide further important information regarding cardiac function.


Assuntos
Débito Cardíaco , Recém-Nascido de Baixo Peso/fisiologia , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Prospectivos , Ultrassonografia Doppler
3.
J Cell Biochem ; 120(10): 17545-17554, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31245867

RESUMO

Impaired lung development is a major negative factor in the survival of preterm neonates. The present study was aimed to investigate the impact of constant oxygen, intermittent hyperoxia, and hypoxia on the lung development in preterm rat neonates. Neonatal rats were exposed to 40% O2 with or without brief hyperoxia episodes (95% O2 ) or brief hypoxia episodes (10% O2 ) from day 0 to day 14, or to room air. The body weight, radical alveolar count (RAC), and total antioxidant capacity (TAOC) were significantly lower whereas the lung coefficient and malondialdehyde (MDA) were significantly higher in the hyperoxia and hypoxia groups than the air control and constant oxygen group at day 7, day 14, and day 21 after birth. The lung function indexes were reduced by intermittent hyperoxia and hypoxia. In contrast, the constant oxygen therapy increased the lung function. HIF-1α and VEGF expression were significantly increased by hypoxia and decreased by hyperoxia. The constant oxygen therapy only decreased the HIF-1α expression at day 14 and 21. In summary, the constant oxygen treatment promoted lung function without affecting the antioxidative capacity in preterm rat neonates. While intermittent hyperoxia and hypoxia inhibited lung development, decreased antioxidative capacity, and dysregulated HIF-1α/VEGF signaling in preterm rat neonates.


Assuntos
Recém-Nascido Prematuro/crescimento & desenvolvimento , Pulmão/crescimento & desenvolvimento , Oxigênio/uso terapêutico , Animais , Animais Recém-Nascidos , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Pulmão/efeitos dos fármacos , RNA Mensageiro/genética , Ratos , Transdução de Sinais/efeitos dos fármacos , Fator A de Crescimento do Endotélio Vascular/genética
4.
J Neuroinflammation ; 14(1): 52, 2017 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-28288671

RESUMO

BACKGROUND: Axon development plays a pivotal role in the formation of synapse, nodes of Ranvier, and myelin sheath. Interleukin-1ß (IL-1ß) produced by microglia may cause myelination disturbances through suppression of oligodendrocyte progenitor cell maturation in the septic neonatal rats. Here, we explored if a microglia-derived IL-1ß would disturb axon development in the corpus callosum (CC) following lipopolysaccharide (LPS) administration, and if so, whether it is associated with disorder of synapse formation in the cerebral cortex and node of Ranvier. METHODS: Sprague-Dawley rats (1-day old) in the septic model group were intraperitoneally administrated with lipopolysaccharide (1 mg/kg) and then sacrificed for detection of IL-1ß, interleukin-1 receptor (IL-1R1), neurofilament-68, neurofilament-160, and neurofilament-200, proteolipid, synaptophysin, and postsynaptic density 95 (PSD95) expression by western blotting and immunofluorescence. Electron microscopy was conducted to observe alterations of axonal myelin sheath and synapses in the cortex, and proteolipid expression was assessed using in situ hybridization. The effect of IL-1ß on neurofilament and synaptophysin expression in primary neuron cultures was determined by western blotting and immunofluorescence. P38-MAPK signaling pathway was investigated to determine whether it was involved in the inhibition of IL-1ß on neurofilament and synaptophysin expression. RESULTS: In 1-day old septic rats, IL-1ß expression was increased in microglia coupled with upregulated expression of IL-1R1 on the axons. The expression of neurofilament-68, neurofilament-160, and neurofilament-200 (NFL, NFM, NFH) and proteolipid (PLP) was markedly reduced in the CC at 7, 14, and 28 days after LPS administration. Simultaneously, cortical synapses and mature oligodendrocytes were significantly reduced. By electron microscopy, some axons showed smaller diameter and thinner myelin sheath with damaged ultrastructure of node of Ranvier compared with the control rats. In the cerebral cortex of LPS-injected rats, some axo-dendritic synapses appeared abnormal looking as manifested by the presence of swollen and clumping of synaptic vesicles near the presynaptic membrane. In primary cultured neurons incubated with IL-1ß, expression of NFL, NFM, and synaptophysin was significantly downregulated. Furthermore, p38-MAPK signaling pathway was implicated in disorder of axon development and synaptic deficit caused by IL-1ß treatment. CONCLUSIONS: The present results suggest that microglia-derived IL-1ß might suppress axon development through activation of p38-MAPK signaling pathway that would contribute to formation disorder of cortical synapses and node of Ranvier following LPS exposure.


Assuntos
Microglia/metabolismo , Sepse Neonatal/complicações , Sepse Neonatal/patologia , Transdução de Sinais/fisiologia , Sinapses/patologia , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo , Fatores Etários , Animais , Animais Recém-Nascidos , Células Cultivadas , Córtex Cerebral/citologia , Modelos Animais de Doenças , Regulação da Expressão Gênica/efeitos dos fármacos , Interleucina-1beta/metabolismo , Lipopolissacarídeos/toxicidade , Microglia/efeitos dos fármacos , Sepse Neonatal/induzido quimicamente , Proteínas do Tecido Nervoso/metabolismo , Neurônios/metabolismo , Neurônios/patologia , Neurônios/ultraestrutura , Ratos , Ratos Sprague-Dawley , Sincalida/metabolismo , Sinapses/metabolismo , Sinapses/ultraestrutura , Sinaptofisina/metabolismo
5.
Glia ; 64(4): 583-602, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26678483

RESUMO

Neuroinflammation elicited by microglia plays a key role in periventricular white matter (PWM) damage (PWMD) induced by infectious exposure. This study aimed to determine if microglia-derived interleukin-1ß (IL-1ß) would induce hypomyelination through suppression of maturation of oligodendrocyte progenitor cells (OPCs) in the developing PWM. Sprague-Dawley rats (1-day old) were injected with lipopolysaccharide (LPS) (1 mg/kg) intraperitoneally, following which upregulated expression of IL-1ß and IL-1 receptor 1 (IL-1R1 ) was observed. This was coupled with enhanced apoptosis and suppressed proliferation of OPCs in the PWM. The number of PDGFR-α and NG2-positive OPCs was significantly decreased in the PWM at 24 h and 3 days after injection of LPS, whereas it was increased at 14 days and 28 days. The protein expression of Olig1, Olig2, and Nkx2.2 was significantly reduced, and mRNA expression of Tcf4 and Axin2 was upregulated in the developing PWM after LPS injection. The expression of myelin basic protein (MBP) and 2',3'-cyclic-nucleotide 3"-phosphodiesterase (CNPase) was downregulated in the PWM at 14 days and 28 days after LPS injection; this was linked to reduction of the proportion of myelinated axons and thinner myelin sheath as revealed by electron microscopy. Primary cultured OPCs treated with IL-1ß showed the failure of maturation and proliferation. Furthermore, FYN/MEK/ERK signaling pathway was involved in suppression of maturation of primary OPCs induced by IL-1ß administration. Our results suggest that following LPS injection, microglia are activated and produce IL-1ß in the PWM in the neonatal rats. Excess IL-1ß inhibits the maturation of OPCs via suppression of FYN/MEK/ERK phosphorylation thereby leading to axonal hypomyelination.


Assuntos
Encéfalo/metabolismo , Interleucina-1beta/metabolismo , Bainha de Mielina/metabolismo , Células-Tronco Neurais/metabolismo , Oligodendroglia/metabolismo , Sepse/metabolismo , Animais , Animais Recém-Nascidos , Apoptose/fisiologia , Encéfalo/ultraestrutura , Proliferação de Células/fisiologia , Células Cultivadas , Modelos Animais de Doenças , Proteína Homeobox Nkx-2.2 , Lipopolissacarídeos , Sistema de Sinalização das MAP Quinases/fisiologia , Bainha de Mielina/ultraestrutura , Células-Tronco Neurais/ultraestrutura , Neurogênese/fisiologia , Oligodendroglia/ultraestrutura , Ratos Sprague-Dawley , Receptores Tipo I de Interleucina-1/antagonistas & inibidores , Receptores Tipo I de Interleucina-1/metabolismo , Sepse/patologia , Substância Branca/metabolismo , Substância Branca/ultraestrutura
6.
J Asthma ; 53(5): 532-7, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26517446

RESUMO

OBJECTIVE: To describe the impact of nebulized budesonide inhalation suspension (BIS) on guardian-reported symptoms in Chinese pediatric patients with cough variant asthma (CVA). METHODS: This was a secondary analysis of a prospective, non-interventional study conducted at 39 Chinese sites. Patients with CVA aged ≤5 years were classified according to the severity of baseline symptoms: mild (symptom score ≤3) or severe (symptom score >3). Daytime and night-time symptom scores, disease control, use of bronchodilators, and improvements in symptoms control were compared after 1, 3, 5 and 7 weeks of treatment between groups. RESULTS: Among 914 patients, 821 (89.8%) completed the 7-week treatment. Among all patients, 368 (40.3%) were classified as mild CVA and 529 (57.9%), as severe CVA. Symptom scores in the severe group were higher than those in the mild group at weeks 1, 3, and 5 (p < 0.05), but not at week 7 (p > 0.05). Further, more patients in the mild group achieved disease control at any time point (98.6% at 3 weeks and 99.7% at 7 weeks), compared with the patients in the severe group (p < 0.001). The proportion of patients requiring bronchodilators differed between the groups until week 5 (p < 0.001). No severe or drug-related adverse events were reported. CONCLUSIONS: Individualized BIS treatment should be formulated according to the severity of baseline symptoms in CVA patients. Patients with mild CVA showed improvement after a shorter treatment time, while patients with severe CVA might require a longer time to respond to the treatment.


Assuntos
Asma/tratamento farmacológico , Broncodilatadores/administração & dosagem , Budesonida/administração & dosagem , Tosse/tratamento farmacológico , Administração por Inalação , Povo Asiático , Broncodilatadores/uso terapêutico , Budesonida/uso terapêutico , Criança , Feminino , Humanos , Masculino , Nebulizadores e Vaporizadores , Suspensões
7.
Ther Clin Risk Manag ; 20: 161-168, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38476881

RESUMO

Background: Studies of chylothorax after congenital heart disease in infants are rare. Chylothorax has a higher incidence in infancy, but its risk factors are not well understood. Objective: The purpose of this study is to investigate the risk factors of chylothorax after congenital heart surgery in infants. Methods: This retrospective study included 176 infants who underwent congenital heart disease surgery at the Guangdong Cardiovascular Institute, China, between 2016 and 2020. According to the occurrence of chylothorax, the patients were divided into a control group (n = 88) and a case group (n = 88). Univariate and multivariate logistic regression were performed to analyse the incidence and influencing factors of chylothorax after congenital heart surgery in infants. Results: Between 2016 and 2020, the annual incidence rate fluctuated between 1.55% and 3.17%, and the total incidence of chylothorax was 2.02%. Multivariate logistic regression analysis showed that postoperative albumin (p = 0.041; odds ratio [OR] = 0.095), preoperative mechanical ventilation (p = 0.001; OR = 1.053) and preterm birth (p = 0.002; OR = 5.783) were risk factors for postoperative chylothorax in infants with congenital heart disease. Conclusion: The total incidence of chylothorax was 2.02% and the annual incidence rate fluctuated between 1.55% and 3.17% between 2016 and 2020. Premature infants, longer preoperative mechanical ventilation and lower albumin after congenital heart surgery may be risk factors for chylothorax. In addition, infants with chylothorax are inclined to be infected, need more respiratory support, use a chest drainage tube for longer and remain longer in hospital.

8.
Acta Radiol ; 53(2): 208-13, 2012 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-22184685

RESUMO

BACKGROUND: In the early phase of viral encephalitis, conventional MRI may appear normal. Diffusion-weighted imaging (DWI) is a sensitive tool for detecting early changes in cellular function in the central nervous system. PURPOSE: To investigate the usefulness of DWI in the diagnosis of enterovirus 71 (EV71) encephalitis, and to determine whether DWI is superior to conventional MR sequences. MATERIAL AND METHODS: MRI scans in 26 patients were retrospectively evaluated for distribution of lesions on T1-weighted images (T1WI), T2-weighted images (T2WI), fluid-attenuated inversion recovery (FLAIR), and DWI. Contrast-to-noise ratios (CNRs) were calculated for all regions on each sequence and differences in the four MRI sequences were assessed using CNRs. Apparent diffusion coefficient (ADC) values were measured for all regions to look for true restriction of diffusion. RESULTS: Fifteen out of 26 cases showed positive findings on MR imaging. The brain stem was involved in 11 patients, cortex and subcortical white matter in four patients. DWI was more sensitive in detecting the abnormalities (89.7%) compared to T2WI (48.7%), FLAIR (41.0%), and T1WI (35.9%), and the positive ratio of DWI was significantly higher compared to other sequences. Furthermore, no significant difference was found between T2WI and FLAIR (P = 0.649). The corresponding mean CNRs were 8.73 ± 2.57, 83.59 ± 29.28, 24.22 ± 6.22, and 132.27 ± 78.32 on T1WI, T2WI, FLAIR, and DWI, respectively. The absolute values of CNRs of lesions on DWI were significantly greater than those on other sequences. CONCLUSION: DWI appears to be more sensitive in detecting EV71 encephalitis than conventional MRI sequences. This capability may improve the accuracy in diagnosing EV71 encephalitis, especially at the early stage.


Assuntos
Imagem de Difusão por Ressonância Magnética/métodos , Encefalite Viral/patologia , Enterovirus Humano A , Infecções por Enterovirus/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Retrospectivos , Sensibilidade e Especificidade
9.
J Biomed Mater Res B Appl Biomater ; 110(6): 1292-1305, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35061311

RESUMO

In tracheal tissue engineering, the construction of tracheal scaffolds with adequate biodegradable mechanical capacity and biological functions that mimic the structure of a natural trachea is challenging. To explore the feasibility of preparing biomimetic degradable scaffolds with C-type cartilage rings and an inner tracheal wall of polycaprolactone and silk fibroin. A mold was made according to the diameter of a rabbit trachea, and a silk fibroin tube and polycaprolactone ring attached to the tube were obtained by solution casting. The ring was fixed to the tube at a specific spacing using electrostatic spinning technology to construct a biomimetic tracheal scaffold; its porous structure was observed by scanning electron microscopy, its degradation properties were determined by in vitro enzymatic hydrolysis and its mechanical properties were obtained by pressure testing. The composite scaffold was transplanted subcutaneously into a rabbit model, and the scaffold was taken at 1, 2, and 4 weeks after surgery for sectioning to observe pre-vascularization. The Medical Ethics Committee of Guangdong Provincial People's Hospital approved the study. The general view of the biomimetic scaffold: the polycaprolactone ring was fixed firmly on the outer wall of the silk fibroin tube; the two corresponded in size, and they fitted closely. The surface of the polycaprolactone ring was smooth and dense, while the surface of the silk fibroin tube could be seen as a uniform porous structure. Scanning electron microscopy showed that the surface and profile of the fibroin tube had a uniform pore size and distribution. The pores were connected to form a network. In vitro, enzymatic hydrolysis experiments confirmed that the fibroin was degraded easily, with most being degraded at the end of week 1. The degradation slowed at 2, 3, and 4 weeks, while the degradation of polycaprolactone was extremely slow. A compression test showed that the compressive resistance of the silk fibroin-polycaprolactone biomimetic scaffolds was much better than that of the rabbit trachea at close thickness. In the tissue staining experiments, as the material degraded, fibrous tissues and blood vessels grew to replace the material, allowing the scaffold to obtain a blood supply and better mechanical properties. A quantitative analysis of CD31 showed that the results for the vascularization of the scaffold were better at 4 weeks than at 2 weeks following subcutaneous grafting (P < .05). The results confirmed that it is feasible to prepare porous, degradable silk fibroin-polycaprolactone biomimetic scaffolds with good mechanical properties and epithelial biological functions by mold casting.


Assuntos
Fibroínas , Animais , Biomimética , Fibroínas/química , Humanos , Poliésteres , Coelhos , Seda , Engenharia Tecidual/métodos , Alicerces Teciduais/química , Traqueia/cirurgia
10.
Early Hum Dev ; 165: 105522, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34959193

RESUMO

BACKGROUND: Cardiorespiratory instability occurs very often in very-low-birth-weight (VLBW) and extremely-low-birth-weight (ELBW) infants undergoing patent ductus arteriosus (PDA) ligation during the early postoperative period. This study aimed to investigate ultrasonic cardiac output monitor (USCOM) as a bedside tool by evaluating the hemodynamic changes in preterm infants following PDA ligation and assessing factors that may influence these changes. METHODS: This was a single-center prospective observational study at a third-level neonatal intensive care unit. A total of 33 infants, including 21 VLBW and 12 ELBW infants, were involved. Hemodynamic measurements were performed in these infants using a USCOM preoperatively as well as 0-1 h, 8-10 h, and 24 h postoperatively. RESULTS: The PDA ligation was associated with reductions of the left ventricular cardiac output (LVCO) (P < 0.001), cardiac index (P < 0.001), flow time corrected (FTC) (P < 0.001), Smith-Madigan inotropy index (SMII) (P < 0.001), oxygen delivery (DO2) (P < 0.001), and oxygen delivery index (DO2I) (P < 0.001) and an increase of the systemic vascular resistance index (SVRI) (P < 0.001) at 0-1 h, 8-10 h, and 24 h post-ligation compared with the respective preoperative values. Compared with the respective values at 0-1 h post-ligation, there was no significant difference in the CI, SMII, or FTC at 8-10 h and 24 h post-ligation. However, the SVRI decreased at 8-10 h and 24 h post-ligation. Moreover, the DO2I increased at 8-10 h and 24 h post-ligation, and the LVCO and DO2 increased at 24 h post-ligation. CONCLUSION: Our study confirmed that the hemodynamic changes measured by the USCOM were similar to those measured by echocardiography in previous reports. Thus, USCOM is a useful and convenient bedside tool for assessing hemodynamic changes to guide the use of fluids, inotropic agents, and vasopressors and help modify the post-ligation course, and they may be a surrogate for repeated echocardiography during the early post-ligation period in preterm infants or a preliminary screening method.


Assuntos
Permeabilidade do Canal Arterial , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Débito Cardíaco , Permeabilidade do Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/cirurgia , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Ligadura/métodos , Ultrassom
11.
Front Genet ; 13: 852429, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35938004

RESUMO

Background: CHARGE syndrome (CS) is a single-gene genetic disorder with multiple organ malformations caused by a variant of the chromodomain helicase DNA-binding protein 7 (CHD7) gene on chromosome 8q12.1. In this study, we aimed to investigate new variants that have emerged in these cases compared with typical CS and the relationship between the genes and phenotypes. Methods: Patients with suspected genetic diseases were subjected to Whole Exome Sequencing (WES) at a genetics laboratory in Guangzhou. The average sequencing coverage depth was >200 ×, and 96% was >20 ×. The variant interpretation was manipulated according to the American College of Medical Genetics (ACMG) guidelines. Molecular data on databases for ClinVar and CHD7 were also collected and collated. We reviewed the currently described CHD7 variants and analyzed the genetic variation and phenotypic heterogeneity. Results: Data of 12 patients with CS from four hospitals in China were collected. According to gestational age, most of them (8/12) were near-term babies with a lower birth weight than their peers, averaging 2.62 kg. In this study, the most common phenotypes were respiratory tract malformations (11/12), heart malformations (10/12), and central nervous system malformations (9/12). Two fetuses were confirmed to have brain or heart abnormalities during prenatal testing, while 10/12 were found to have abnormalities during prenatal testing. The maximum Acute Physiology and Chronic Health Evaluation (APACHE II) score at admission was 19, and the average was 11.58. Five variants in the CHD7 gene c.7012C > T (p.Q2338*), c.7868delC (p.P2623Rfs*16), c.5405-3C > G, c.6936 + 2T > C, and c.8077-2A > G) were novel and were located in exons 33, 36, and introns 25, 32, and 37, respectively. There may be a positive correlation between exon location and phenotype. Conclusion: Five novel variants were discovered. These expanded the mutational spectrum of the CHD7 gene and the phenotype of CS. There may be a correlation between the new mutation sites and the phenotype, which has some reference value for the evaluation of mutation sites.

12.
Cardiovasc Diagn Ther ; 12(6): 868-879, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36605076

RESUMO

Background: The high death rate and medical costs of critical congenital heart disease (CCHD) in preterm infants has resulted in significant burdens on both countries and individuals. It is unclear how this affects the mortality of the integrated management model of prenatal diagnosis/postnatal treatment. This study explored the effects of the delivery classification scale for fetal heart and postnatal infants' CCHD on prenatal and postnatal integrated treatment strategies to improve the effectiveness of disease management in CCHD. Methods: This study was a case-control study, which retrospectively analyzed the clinical data of 79 preterm infants (<37 weeks) who underwent prenatal diagnosis and postpartum treatment in Guangdong Provincial People' s Hospital (China) from June 2017 to June 2019. According to the diagnostic and exclusion criteria, the subjects were divided into prenatal and postpartum diagnostic groups. The clinical characteristics and survival outcomes of patients were collected and compared. The delivery classification scale was used for risk stratification and patient management. Results: Among the 79 patients included in this study, 48 (60.76%) were diagnosed prenatally, and 31 (39.24%) were diagnosed postpartum. The prenatal diagnosis group was born slightly earlier during the gestation period [35.00 (33.29-35.86) vs. 35.57 (34.14-36.71) weeks, P<0.05], and their mothers were older (33.23±5.22 vs. 30.43±6.37 years, P<0.05). The difference in the admission age between the groups was statistically significant [0 (0-5.5) vs. 7 (5-16) days, P<0.001]. The median survival time of the prenatal diagnosis group was higher than the postnatal diagnosis group [48 months (95% CI: 40.78-57.29) vs. 39 months (95% CI: 34.41-44.32), P<0.05]. The 3-year survival rates of the classes I, II, and III were 92.31% (12/13), 59.09% (13/22), and 38.46% (5/13), respectively. The survival of class I as denoted in the delivery classification scale was better than classes II or III (class I vs. II, P<0.05; class I vs. III, P<0.05). Unexpectedly, the hospitalisation costs were lower and total in-hospital days were shorter in the postnatal diagnosis group. Conclusions: The results indicated that the integrated management of a prenatal diagnosis/postnatal treatment approach in premature infants may be effective. Furthermore, the delivery classification scale has a particular prognostic value for CCHD. The authors anticipate that their management model will be able to contribute to the shift from a reactive monodisciplinary system to a proactive, multidisciplinary and dynamic management paradigm in premature infants with CCHD in the near future.

13.
Front Pediatr ; 10: 888001, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36081626

RESUMO

Background: PhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22q13 genomic region, including the deletion of SHANK3. Methods: Genetic and phenotype evaluations of ten Chinese pediatric patients were performed. The clinical phenotypes and genetic testing results were collected statistically. We analyzed the deletion of the 22q13 genomic region and small mutations in SHANK3 (GRCh37/hg19) and performed parental genotype verification to determine whether it was related to the parents or was a novel mutation. Results: The age of the patients diagnosed with PMS ranged from 0 to 12 years old. Nine of the pediatric patients experienced Intellectual Disability, language motion development delay and hypotonia as prominent clinical features. One subject had autism, two subjects had abnormal electroencephalogram discharge and one subject was aborted after fetal diagnosis. Three patients had a SHANK3 mutation or deletion. All but the aborted fetuses had intellectual disability. Among the ten patients, a deletion in the 22q13 region occurred in seven patients, with the smallest being 60.6 kb and the largest being >5.5 Mb. Three patients had heterozygous mutations in the SHANK3 gene. Conclusion: All ten patients had novel mutations, and three of these were missense or frameshift mutations. For the first time reported, it is predicted that the amino acid termination code may appear before protein synthesis. The novel mutations we discovered provide a reference for clinical research and the diagnosis of PMS.

14.
J Bras Pneumol ; 47(5): e20210125, 2021.
Artigo em Inglês, Português | MEDLINE | ID: mdl-34614093

RESUMO

OBJECTIVE: To investigate the clinical characteristics of preterm infants with different severities of bronchopulmonary dysplasia (BPD) and disclose the high-risk factors of exacerbating BPD. METHODS: Collection of clinical data of 91 preterm infants admitted to the NICU and diagnosed with BPD, categorized in groups according to the disease severity: 41 mild cases,, 24 moderate cases, and 26 severe cases. Comparison and analysis of perinatal risk factors, treatment, complications and prognosis of the infants with different severity degrees. RESULTS: The severe group had a higher proportion of infants with congenital heart disease (CHD) higher than the moderate group (P < 0.05), and a higher ratio of pneumonia and mechanical ventilation (MV) ≥ seven days than the mild group (P < 0.05). The severe group also presented higher reintubation incidence than both the mild and moderate groups (P < 0.05). The groups presented different (P < 0.05) incidence rates of hemodynamically significant patent ductus arteriosus (hsPDA) . Ridit analysis suggested that the premature infants (PIs) with hsPDA, multiple microbial pulmonary infections, or Klebsiella pneumoniae pneumonia had more severe illness. CONCLUSION: CHD, hsPDA, MV ≥ seven days, reintubation, pneumonia, especially multiple microbial pulmonary infections, and Klebsiella pneumoniae pneumonia are correlated with the severity of BPD and can be used as BPD progression predictor.


Assuntos
Displasia Broncopulmonar , National Institute of Child Health and Human Development (U.S.) , Displasia Broncopulmonar/epidemiologia , Criança , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Gravidez , Fatores de Risco , Estados Unidos
15.
Cardiovasc Diagn Ther ; 11(2): 447-456, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33968622

RESUMO

BACKGROUND: Congenital heart disease (CHD) is the most common congenital defect in human beings. The purpose of this article is to investigate impact of an integrated management mode of 'prenatal diagnosis-postnatal treatment' on birth, surgery, prognosis and complications associated with critical CHD (CCHD) in newborns. METHODS: A retrospective analysis of the medical records of newborns diagnosed with CCHD were divided into two groups: prenatal diagnosis and postnatal diagnosis. The demographics, clinical characteristics, surgical status, prognosis and complications of the two groups were compared and the differences identified. RESULTS: Among the 290 newborns with CCHD, 97 (33.4%) were prenatally diagnosed and 193 (66.6%) were postnatally diagnosed. Newborns in the prenatal diagnostic group were hospitalized immediately after birth, whereas the median age of admission was 6.00 (3.00-12.00) days in postnatal diagnostic group, P=0.000. In terms of postnatal symptoms and signs, the incidence of anhelation, cyanosis and cardiac murmur was higher in the postnatal diagnostic group. The rates of preoperative intubation, postoperative open chest exploration and treatment abandonment were higher in the postnatal diagnostic group. The postnatal diagnostic group was more prone to postoperative complications, such as pneumonia and hypoxic-ischemic brain damage. The preoperative mortality [0 (0.0%) vs. 12 (6.2%), P=0.028] in the prenatal diagnostic group was lower than that in the postnatal diagnostic group. And the one-year survival rate of the prenatal diagnostic group was higher (log-rank test P=0.034). CONCLUSIONS: The integrated management mode of prenatal diagnosis-postnatal treatment can improve postnatal symptoms, reduces complications, reduces preoperative mortality and increases one-year survival rates in newborns with CCHD.

16.
Stem Cells Int ; 2021: 6624265, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33747094

RESUMO

Airway stenosis is a common problem in the neonatal intensive care unit (NICU) and pediatric intensive care unit (PICU). A tissue-engineered trachea is a new therapeutic method and a research hotspot. Successful vascularization is the key to the application of a tissue-engineered trachea. However, successful vascularization studies lack a complete description. In this study, it was assumed that rabbit bone marrow mesenchymal stem cells were obtained and induced by ascorbic acid to detect the tissue structure, ultrastructure, and gene expression of the extracellular matrix. A vascular endothelial cell culture medium was added in vitro to induce the vascularization of the stem cell sheet (SCS), and the immunohistochemistry and gene expression of vascular endothelial cell markers were detected. At the same time, vascular growth-related factors were added and detected during SCS construction. After the SCS and decellularized tracheal (DT) were constructed, a tetrandrine allograft was performed to observe its vascularization potential. We established the architecture and identified rabbit bone marrow mesenchymal stem cell membranes by 14 days of ascorbic acid, studied the role of a vascularized membrane in inducing bone marrow mesenchymal stem cells by in vitro ascorbic acid, and assessed the role of combining the stem cell membranes and noncellular tracheal scaffolds in vivo. Fourteen experiments confirmed that cell membranes promote angiogenesis at gene level. The results of 21-day in vitro experiments showed that the composite tissue-engineered trachea had strong angiogenesis. In vivo experiments show that a composite tissue-engineered trachea has strong potential for angiogenesis. It promotes the understanding of diseases of airway stenosis and tissue-engineered tracheal regeneration in newborns and small infants.

17.
Lancet Reg Health West Pac ; 14: 100212, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34528000

RESUMO

BACKGROUND: To investigate the current situation of neonatal care resources (NCR), newborn mortality rates (NMR), regional differences and existing challenges in China. METHODS: By using a self-designed questionnaire form and the cross-sectional method, we conducted a survey of all hospitals equipped with neonatal facilities in China from March 2019 to March 2020 with respect to the level and nature of these hospitals, the number of newborn beds and NICU beds, the number of neonatal pediatricians, and the development of therapeutic techniques. The data about the newborn births and deaths were retrieved from the annual statistics of the health commissions of the related provinces, autonomous regions and municipalities. FINDING: Included in this nationwide survey were 3,020 hospitals from all 22 provinces, 5 autonomous regions and 4 municipalities directly under the Central Government of Mainland China, with a 100% response rate. They included 1,183 (39.2%) level-3 (L3) hospitals, 1629 (53.9%) L-2 hospitals and 208 (6.9%) L-1 hospitals. Geographically, 848 (31.4%) hospitals were distributed in Central China, 983 (32.5%) hospitals in East China, and 1,089 (36.1%) in West China. The 3,020 included hospitals were altogether equipped with 75,679 newborn beds, with a median of 20 (2-350) beds, of which 2,286 hospitals (75.7%) were equipped with neonatal intensive care units (NICU), totaling 28,076 NICU beds with a median of 5 (1-160) beds. There were altogether 27,698 neonatal pediatricians in these hospitals, with an overall doctor-bed ratio of 0.366. There were 48.18 newborn beds and 17.87 NICU beds per 10,000 new births in China. In East, Central and West China, the number of neonatal beds, NICU beds, neonatal pediatricians, and attending pediatricians or pediatricians with higher professional titles per 10,000 newborns was 42.57, 48.64 and 55.67; 17.07, 18.66 and 18.17; 16.26, 16.51 and 20.81; and 10.69, 10.81 and 11.29, respectively. However, when the population and area are taken into consideration and according to the health resources density index (HRDI), the number of newborn beds, NICU beds and neonatal pediatricians in West China was significantly lower than that in Central and East China. In addition, only 10.64% of the neonatal pediatricians in West China possessed the Master or higher degrees, vs. 31.7% in East China and 20.14% in Central China. On the contrary, the number of neonatal pediatricians with a lower than Bachelor degree in West China was significantly higher than that in Central and East China (13.28% vs. 7.36% and 4.28%). Technically, the application rate of continuous positive airway pressure (CPAP) and conventional mechanical ventilation (CMV) in L-1 hospitals of West China was lower than that in Central and East China. According to the statistics in 2018, the newborn mortality rate (NMR) in West China was significantly higher than that in Central and East China. INTERPRETATION: China has already possessed relatively good resources for neonatal care and treatment, which is the primary reason for the rapid decrease in the NMR in China. However, there are still substantial regional differences. The density of health resources, the level of technical development and educational background of neonatal pediatricians in West China still lag behind those in other regions of China and need to be further improved and upgraded. FUNDING: This research work was funded by National Natural Science Foundation of China (81671504) and United Nations International Children's Emergency Fund (CHINA-UNICEF501MCH).

18.
Exp Ther Med ; 20(3): 2879-2887, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32765785

RESUMO

The purpose of the current study was to determine the effect of perioperative amplitude-integrated electroencephalography (aEEG) on neurodevelopmental outcomes in infants with congenital heart disease (CHD). A total of 93 children with CHD were included in the current study. All patients enrolled in the present study had undergone cardiac surgery prior to 3 months of age and pre- or postoperative aEEG was monitored. Participants were assessed after 1 year using the Bayley Scales of Infant Test. A total of 82.2% of infants exhibited continuous normal voltage preoperatively (CNV) and 93.7% exhibited CNV postoperatively. Seizures were indicated in 2 infants preoperatively and 3 infants postoperatively. Compared with infants with PDI, infants with cyanotic CHD (ß=17.218) exhibited a significantly lower MDI, an increased length of intensive care stay, and lower PDI scores (ß=-0.577). Infants that underwent surgery with CPB exhibited higher PDI scores (ß=11.956). Infants that exhibited behavioral problems also had lower PDI scores (ß=-10.605). An abnormal preoperative background pattern and an absent postoperative SWC independently predicted poorer motor (P=0.014) and cognitive (P=0.049) outcomes at 1 year. The current study demonstrated that infants with CHD who underwent cardiac surgery prior to 3 months of age exhibited delayed neurodevelopmental outcomes, and that an aEEG assessment can aid in predicting these outcomes following surgery.

19.
Indian Pediatr ; 57(2): 133-137, 2020 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-32060240

RESUMO

OBJECTIVE: To identify the factors influencing brain injury in infants with congenital heart disease (CHD) after cardiac surgery. METHODS: This retrospective study investigated 103 infants with CHD undergoing cardiac surgery between January 2013 and February 2016. Pre- and postoperative amplitude-integrated electroencephalography (aEEG) recordings were assessed for background pattern, sleep-wake cycle pattern and seizure activity. Logistic regression model was used to determine the influencing factors of brain injury. RESULTS: Pre-operatively, most infants in our study exhibited a normal background pattern, with 16.5% showing discontinuous normal voltage, whereas this pattern was observed in only 7.8% of infants postoperatively. The improvement in background pattern after surgery was significant (P<0.05) in infants at no more than 39 weeks of gestational age. Infants with postoperative sepsis or severe postoperative infection were prone to show a worse sleep-wake cycle pattern after heart surgery. CONCLUSIONS: The improvement in brain function of infants with CHD after cardiac surgery was associated with the gestational age and postoperative infection.


Assuntos
Encéfalo/fisiologia , Eletroencefalografia , Cardiopatias Congênitas , Feminino , Idade Gestacional , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/fisiopatologia , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Infecções , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento
20.
J Cancer ; 10(20): 4824-4835, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31598153

RESUMO

Acute myeloid leukemia (AML) is the fifth most common malignancy in children, and the prognosis for AML in children remains relatively poor. However, its incidence and survival trends based on a large sample size have not been reported. Children diagnosed with AML between 1975 and 2014 were accessed from the Surveillance, Epidemiology, and End Results database. Incidence and survival trends were evaluated by age-adjusted incidence and relative survival rates (RSRs) and Kaplan-Meier analyses. Cox regression was performed to identify independent risk factors for child AML death. The overall incidence of AML in childhood increased each decade between 1975 and 2014, with the total age-adjusted incidence increasing from 5.766 to 6.615 to 7.478 to 7.607 per 1,000,000 persons. In addition, the relative survival rates of AML in childhood improved significantly, with 5-year RSRs increasing from 22.40% to 39.60% to 55.50% to 68.30% over the past four decades (p < 0.0001). Furthermore, survival disparities among different races and socioeconomic statuses have continued to widen over the past four decades. Multivariate Cox regression analyses showed a higher risk of death in Black patients (HR = 1.245, 95% CI: 1.077-1.438, p = 0.003) with Whites as a reference. These results may help predict future trends for AML in childhood, better design clinical trials by eliminating disparities, and ultimately improve clinical management and outcome.

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