INFANT

婴儿
  • 文章类型: Journal Article
    目标:由于2019年冠状病毒病(COVID-19)大流行,许多发展行为儿科(DBP)实践采用远程医疗来提供护理。然而,对于使用英语(PLOE)以外的首选语言的家庭,远程医疗访问和使用是一个公平问题。因此,我们的研究目的是比较COVID-19大流行期间接受DBP评估的患者的远程医疗使用率和按首选家庭语言划分的就诊完成率.
    方法:我们使用4项学术DBP实践的电子健康记录数据完成了描述性图表审查,以检查2020年4月至2021年4月期间新患者预约的长达5年的患者就诊情况。我们根据首选的家庭语言和访问结果(完成或错过)比较了面对面和远程健康访问的比率。
    结果:计划在2020年4月至2021年4月期间共进行3241次访问;48.2%为当面就诊,51.8%为远程医疗。家庭报告了以下语言:90.5%的英语,6.2%西班牙语,和3.3%的其他语言。错过的访问占计划访问的7.6%。面对面访问与远程健康访问的相对百分比因地点(p<0.001)和首选的家庭语言(p<0.001)而异。与PLOE患者相比,说英语的患者被安排进行远程医疗的几率是其2.10倍,调整网站。根据就诊类型(当面或远程医疗),就诊结果(完成或错过)未发现统计学上的显着差异(p=0.79),包括在考虑PLOE状态后(p=0.83)。
    结论:在大流行的高峰期,大多数说英语的家庭被安排通过远程医疗进行新的DBP评估,但是有PLOE的家庭较少。注意语言以确保远程医疗访问公平性至关重要。
    OBJECTIVE: Owing to the coronavirus disease 2019 (COVID-19) pandemic, many developmental-behavioral pediatric (DBP) practices adopted telehealth for care delivery. However, telehealth access and use for families with a preferred language other than English (PLOE) is an equity concern. Therefore, our study objective is to compare rates of telehealth utilization and visit completion by preferred family language among patients seen for DBP assessments during the COVID-19 pandemic.
    METHODS: We completed a descriptive chart review using electronic health record data at 4 academic DBP practices to examine visits for patients up to 5 years seen for new-patient appointments between April 2020 and April 2021. We compared rates of in-person and telehealth visits by preferred family language and visit outcome (completed or missed).
    RESULTS: A total of 3241 visits were scheduled between April 2020 and April 2021; 48.2% were for in-person and 51.8% for telehealth. Families reported the following languages: 90.5% English, 6.2% Spanish, and 3.3% other language. Missed visits accounted for 7.6% of scheduled visits. The relative percentage of in-person versus telehealth visits varied significantly by site (p < 0.001) and preferred family language (p < 0.001). English-speaking patients had 2.10 times the odds of being scheduled for telehealth compared with patients with PLOE, adjusting for site. Statistically significant differences were not found for visit outcome (completed or missed) by visit type (in-person or telehealth) (p = 0.79), including after accounting for PLOE status (p = 0.83).
    CONCLUSIONS: At the height of the pandemic, most English-speaking families were scheduled for new DBP evaluations by telehealth, but fewer families with PLOE were. Attention to language to ensure telehealth access equity is critical.
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  • 文章类型: Journal Article
    在这项研究中,我们分析了动画教育视频和团体护理在儿童重症肺炎治疗中的疗效。选取我院2022年10月至2023年10月收治的140例重症肺炎患者作为研究对象,分为对照组和观察组。对照组给予常规护理,观察组接受动画教育视频和集束化护理干预。比较2组患者的治疗效果。体温恢复时间等临床指标,血氧饱和度恢复时间,心率恢复时间,意识恢复时间,比较两组患者呼吸频率恢复时间。结果表明,温度恢复时间,氧饱和度恢复时间,观察组心率恢复时间、呼吸频率恢复时间与对照组比较差异均有统计学意义(P<0.05)。单因素分析显示,有或没有焦虑障碍的家庭在经济状况上有统计学上的显著差异,肺外并发症,护理方法等方面。Logistic多因素回归分析显示,护理方法,肺外并发症,和差的经济条件(收入<5000)是焦虑的危险因素的家庭成员的重症肺炎患者,而良好的经济条件(收入>5000)是保护因素。所以,动画教育视频和捆绑护理能有效提高重症肺炎患儿的护理效果,促进患儿康复。
    In this study, we analyzed the efficacy of animated educational videos and group nursing in the treatment of severe pneumonia in children. A total of 140 patients with severe pneumonia in our hospital from October 2022 to October 2023 were selected as the research subjects, and they were divided into a control group and an observation group. The control group received routine care, while the observation group received animated educational videos and cluster nursing interventions. The treatment effects of the 2 groups of patients were compared. Clinical indicators such as body temperature recovery time, blood oxygen saturation recovery time, heart rate recovery time, consciousness recovery time, and respiratory rate recovery time were compared between the 2 groups of patients. The results showed that the temperature recovery time, oxygen saturation recovery time, heart rate recovery time and respiratory rate recovery time in observation group were significantly different from those in control group (P < .05). Univariate analysis showed that families with or without anxiety disorder had statistically significant differences in economic conditions, extrapulmonary complications, nursing methods and other aspects. Logistic multivariate regression analysis showed that nursing methods, extrapulmonary complications, and poor economic conditions (income < 5000) were risk factors for anxiety among family members of severe pneumonia patients, while good economic conditions (income > 5000) were protective factors. So, animated educational videos and bundled care can effectively improve the nursing effectiveness of children with severe pneumonia and promote their recovery.
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  • 文章类型: Journal Article
    尽管最近的体外实验结果提出了一个问题,即母体暴露于全氟和多氟烷基物质(PFAS)是否可能是染色体异常的潜在环境风险因素,缺乏调查这些关联的流行病学研究。
    这项研究检查了产前PFAS暴露是否与后代中更高的染色体异常患病率相关。
    我们使用了日本环境与儿童研究的数据,一项全国性的出生队列研究,并采用逻辑回归模型来检查孕早期母体血浆PFAS浓度与所有分娩中染色体异常的诊断之间的关联(人工流产,流产,死产,和活产)至2岁。此外,我们使用多污染物模型检查了与PFAS混合物的关联。
    最终样本包括24,724例单胎妊娠,其中44例染色体异常确诊病例(患病率:17.8/10,000例)。当单独检查时,全氟壬酸(PFNA)和全氟辛烷磺酸(PFOS)暴露与任何染色体异常呈正相关,年龄调整后的比值比为1.81(95%CI:1.26,2.61)和2.08(95%CI:1.41,3.07)每加倍浓度,分别。在Bonferroni校正后,这些关联仍然很重要,尽管在某些敏感性分析中它们没有达到调整后的显著性阈值.此外,在所有PFAS中,作为混合物的加倍与染色体异常有关,表明年龄调整后的赔率比为2.25(95%CI:1.34,3.80),以全氟辛烷磺酸为主要贡献者,其次是PFNA,全氟十一酸(PFUnA),和全氟辛酸(PFOA)。
    研究结果表明,母体暴露于PFAS之间存在潜在关联,特别是全氟辛烷磺酸,和后代的染色体异常。然而,结果应谨慎解释,因为孕早期招募妇女引起的选择偏差可能解释了这种关联。https://doi.org/10.1289/EHP13617.
    UNASSIGNED: Although recent in vitro experimental results have raised the question of whether maternal exposure to per- and polyfluoroalkyl substances (PFAS) may be a potential environmental risk factor for chromosomal abnormalities, epidemiological studies investigating these associations are lacking.
    UNASSIGNED: This study examined whether prenatal PFAS exposure is associated with a higher prevalence of chromosomal abnormalities among offspring.
    UNASSIGNED: We used data from the Japan Environment and Children\'s Study, a nationwide birth cohort study, and employed logistic regression models to examine the associations between maternal plasma PFAS concentrations in the first trimester and the diagnosis of chromosomal abnormalities in all births (artificial abortions, miscarriages, stillbirths, and live births) up to 2 years of age. In addition, we examined associations with mixtures of PFAS using multipollutant models.
    UNASSIGNED: The final sample consisted of 24,724 births with singleton pregnancies, of which 44 confirmed cases of chromosomal abnormalities were identified (prevalence: 17.8/10,000 births). When examined individually, exposure to perfluorononanoic acid (PFNA) and perfluorooctane sulfonic acid (PFOS) showed positive associations with any chromosomal abnormalities with age-adjusted odds ratios of 1.81 (95% CI: 1.26, 2.61) and 2.08 (95% CI: 1.41, 3.07) per doubling in concentration, respectively. These associations remained significant after Bonferroni correction, although they did not reach the adjusted significance threshold in certain sensitivity analyses. Furthermore, the doubling in all PFAS included as a mixture was associated with chromosomal abnormalities, indicating an age-adjusted odds ratio of 2.25 (95% CI: 1.34, 3.80), with PFOS as the predominant contributor, followed by PFNA, perfluoroundecanoic acid (PFUnA), and perfluorooctanoic acid (PFOA).
    UNASSIGNED: The study findings suggested a potential association between maternal exposure to PFAS, particularly PFOS, and chromosomal abnormalities in offspring. However, the results should be interpreted cautiously, because selection bias arising from the recruitment of women in early pregnancy may explain the associations. https://doi.org/10.1289/EHP13617.
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  • 文章类型: English Abstract
    This study aimed to analyze the association between sociodemographic factors, maternal and neonatal characteristics and the time taken to introduce complementary feeding in low birthweight and preterm newborns. This is a prospective cohort study of 79 preterm newborns weighing less than or equal to 1,800g. Data were collected at the time of hospital discharge and at the 6th, 9th ,and 12th months of corrected gestational age (CGA), using a structured questionnaire to analyze the time taken to introduce complementary feeding and the texture of the foods introduced. Furthermore, the Survey of Well-being of Young Children (SWYC-BR) was used to assess the risk of developmental delay. Cox proportional hazards regression was used to analyze the variables. The introduction of complementary feeding was assessed in preterm newborns based on the median age of introduction of liquid foods (3.50; IQR: 2.50-5.00), followed by solid (4.70; IQR: 3.20-5.20) and soft foods (5.00; IQR: 4.50-5.50). There was also an association with gestational age (RR = 1.25; 95%CI: 1.02-1.52) throughout the process of food introduction. For solid and soft foods, those with the longest length of stay (RR = 1.03; 95%CI: 1.10-1.05) and on mixed breastfeeding (RR = 2.97; 95%CI: 1.24-7.09) delayed the introduction of complementary feeding the longest. For liquid foods, less severe preterm newborns (Score for Neonatal Acute Physiology and Perinatal Extension - SNAPPE II [RR = 0.96; 95%CI: 0.94-0.98]) and mothers who were breastfeeding at hospital discharge (RR = 11.49; 95%CI: 1.57-84.10) delayed the introduction of complementary feeding. Guidelines are needed to better advise professionals and parents and/or guardians on the ideal time to introduce feeding.
    O objetivo deste artigo foi analisar a associação entre os fatores sociodemográficos, as características maternas e neonatais e o tempo de introdução da alimentação complementar em recém-nascidos pré-termo e com baixo peso. Trata-se de um estudo de coorte prospectivo feito com 79 recém-nascidos pré-termo com peso menor ou igual a 1.800g. Os dados foram coletados no momento da alta hospitalar e ao 6º, 9º e 12º mês de idade gestacional corrigida (IGC), com auxílio de um questionário estruturado para analisar o tempo de introdução da alimentação complementar e texturas dos alimentos introduzidos. Além disso, para avaliar o risco de atraso de desenvolvimento, utilizou-se o Survey of Well-being of Young Children (SWYC-BR). Para análise das variáveis, aplicou-se regressão de riscos proporcionais de Cox. A introdução da alimentação complementar foi observada nos recém-nascidos pré-termo, com a mediana de idade de introdução de alimentos líquidos (3,50; IQ: 2,50-5,00), seguido por sólidos (4,70; IQ: 3,20-5,20) e pastosos (5,00; IQ: 4,50-5.50). Ainda, verificou-se associação da idade gestacional (RR = 1.25; IC95%: 1,02-1,52) em todo o processo da introdução alimentar. Para os alimentos sólidos e pastosos, aqueles com o maior tempo de internação (RR = 1,03; IC95%: 1,10- 1,05) e em amamentação mista (RR = 2,97; IC95%: 1,24-7,09) adiaram mais o tempo para introduzir a alimentação complementar. Para alimentos líquidos, recém-nascidos pré-termo menos graves (Score for Neonatal Acute Physiology and Perinatal Extension - SNAPPE II [RR = 0,96; IC95%: 0,94-0,98]) e mães que estavam amamentando na alta hospitalar (RR = 11,49; IC95%: 1,57-84,10) postergaram a introdução alimentar. Diretrizes para melhor orientação de profissionais e pais e/ou responsáveis sobre o momento ideal de introdução alimentar se faz necessário.
    El objetivo de este estudio fue analizar la asociación entre los factores sociodemográficos, características maternas y neonatales y el momento de introducción de la alimentación complementaria en recién nacidos pretérmino (recém-nascidos pré-termo) y de bajo peso. Se trata de un estudio de cohorte prospectivo realizado con 79 recém-nascidos pré-termo con un peso menor o igual a 1.800g. Los datos se recopilaron en el momento del alta hospitalaria y al 6º, 9º y 12º mes de edad gestacional corregida (EGC), con la ayuda de un cuestionario estructurado para analizar el momento de introducción de la alimentación complementaria y las texturas de los alimentos introducidos. Además, para evaluar el riesgo de retraso en el desarrollo, se utilizó la Survey of Well-being of Young Children (SWYC-BR). Para analizar las variables, se aplicó la regresión de riesgos proporcionales de Cox. La introducción de la alimentación complementaria se observó en los recém-nascidos pré-termo, con la mediana de edad de introducción de alimentos líquidos (3,50; IIC: 2,50-5,00), seguido de los sólidos (4,70; IIC: 3,20-5,20) y pastosos (5,00; IIC: 4,50-5,50). Además, se constató la asociación de la edad gestacional (RR = 1,25; IC95%: 1,02-1,52) durante todo el proceso de introducción alimentaria. En el caso de alimentos sólidos y pastosos, aquellos con mayor tiempo de hospitalización (RR = 1,03; IC95%: 1,10-1,05) y en lactancia mixta (RR = 2,97; IC95%: 1,24-7,09) retrasaron más la introducción de alimentación complementaria. En el caso de alimentos líquidos, los recém-nascidos pré-termo menos graves (Score for Neonatal Acute Physiology and Perinatal Extension - SNAPPE II [RR = 0,96; IC95%: 0,94-0,98]) y las madres que estaban amamantando al alta hospitalaria (RR = 11,49; IC95%: 1,57-84,10) pospusieron la introducción de alimentos. Se hacen necesarias pautas para una mejor orientación a profesionales y padres o tutores sobre el momento ideal para la introducción alimentaria.
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  • 文章类型: Journal Article
    背景:严重先天性心脏病(CCHD)与相当高的发病率和死亡率相关。这项研究估计了非综合征性CCHD儿童的生存率,并通过CCHD严重程度(单室或双心室功能)评估了感兴趣的暴露与生存率之间的关系。
    方法:该分析包括1999-2011年出生的4380名患有CCHD的婴儿(病例),并参加了国家出生缺陷预防研究。多站点,主要出生缺陷人群病例对照研究.案件与州死亡档案有关。非参数Kaplan-Meier生存函数用于估计总体和严重程度组(单室/双室)的1年和5年生存概率,并通过感兴趣的人口统计学和临床暴露变量进行分层。使用对数秩检验来确定分层存活曲线是否相等。生存率和95%置信区间(CI)也使用Cox比例风险模型进行估计,调整为母亲的年龄,教育,种族/民族,研究地点,和出生年份。
    结果:一年和五年生存率分别为85.8%(CI84.7-86.8)和83.7%(CI82.5-84.9),分别。单室5年生存率低于双室生存率[65.3%(CI61.7-68.5)89.0%(CI87.8-90.1;p<0.001)]。临床因素(如早产、低出生体重,和复杂/多重缺陷)与每个严重程度组的较低生存率相关。社会人口因素(非西班牙裔黑人种族/种族,<高中教育,吸烟,和较低的家庭收入)仅与双心室病例的生存率相关。
    结论:CCHD患儿的死亡率主要发生在出生后的第一年。单室缺陷患者的生存率较低,健康的社会决定因素在预测双心室缺陷患者的生存率方面最为重要。
    BACKGROUND: Critical congenital heart defects (CCHDs) are associated with considerable morbidity and mortality. This study estimated survival of children with nonsyndromic CCHDs and evaluated relationships between exposures of interest and survival by CCHD severity (univentricular or biventricular function).
    METHODS: This analysis included 4380 infants with CCHDs (cases) born during 1999-2011 and enrolled in the National Birth Defects Prevention Study, a multisite, population-based case-control study of major birth defects. Cases were linked to state death files. Nonparametric Kaplan-Meier survival functions were used to estimate 1- and 5-year survival probabilities overall and by severity group (univentricular/biventricular) stratified by demographic and clinical exposure variables of interest. The log-rank test was used to determine whether stratified survival curves were equivalent. Survival and 95% confidence intervals (CIs) were also estimated using Cox proportional hazards modeling adjusted for maternal age, education, race/ethnicity, study site, and birth year.
    RESULTS: One- and five-year survival rates were 85.8% (CI 84.7-86.8) and 83.7% (CI 82.5-84.9), respectively. Univentricular 5-year survival was lower than biventricular case survival [65.3% (CI 61.7-68.5) vs. 89.0% (CI 87.8-90.1; p < 0.001)]. Clinical factors (e.g. preterm birth, low birthweight, and complex/multiple defects) were associated with lower survival in each severity group. Sociodemographic factors (non-Hispanic Black race/ethnicity, CONCLUSIONS: Mortality among children with CCHDs occurred primarily in the first year of life. Survival was lower for those with univentricular defects, and social determinants of health were most important in predicting survival for those with biventricular defects.
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  • 文章类型: Journal Article
    与任务相关的研究一直报告说,听语音会激活大脑的颞叶和前额叶区域。然而,从静息状态形式处理语音时,听觉和语言网络的功能组织如何不同还不是很清楚。通常发育中的婴儿的语言网络组织知识可以作为重要的生物标志物来理解听力障碍婴儿预期的网络级破坏。我们假设语言网络的拓扑差异可以在两个实验条件(1)完全沉默(休息)和(2)响应重复的连续语音(稳定)中使用功能连通性度量来表征。30名听力正常的婴儿(14名男性和16名女性,年龄:7.8±4.8个月)纳入本研究。在两个实验条件下,从与言语和语言处理相关的双侧颞叶和前额叶区域记录了大脑活动:静息状态和稳态。使用图论分析表征了功能语言网络的拓扑差异。归一化的全局效率和聚类系数被用作功能整合和隔离的度量,分别。我们发现总的来说,婴儿的语言网络在休息和稳定状态下都展示了经济小世界组织。此外,与稳态相比,语言网络在静息状态下表现出更高的功能整合和更低的功能隔离。对6个月或6个月以下及6个月以上婴儿的发育影响进行的二次分析显示,在静息和稳态中功能整合和分离的拓扑差异可以在生命的前6个月后可靠地检测到。在静息状态下观察到的更高的功能整合表明,在没有语音刺激的情况下,婴儿的语言网络可以促进跨分布式语言区域的更有效的并行信息处理。此外,稳态下较高的功能隔离表明,语音信息处理发生在语言网络中紧密互连的专门区域内。
    Task-related studies have consistently reported that listening to speech sounds activate the temporal and prefrontal regions of the brain. However, it is not well understood how functional organization of auditory and language networks differ when processing speech sounds from its resting state form. The knowledge of language network organization in typically developing infants could serve as an important biomarker to understand network-level disruptions expected in infants with hearing impairment. We hypothesized that topological differences of language networks can be characterized using functional connectivity measures in two experimental conditions (1) complete silence (resting) and (2) in response to repetitive continuous speech sounds (steady). Thirty normal-hearing infants (14 males and 16 females, age: 7.8 ± 4.8 months) were recruited in this study. Brain activity was recorded from bilateral temporal and prefrontal regions associated with speech and language processing for two experimental conditions: resting and steady states. Topological differences of functional language networks were characterized using graph theoretical analysis. The normalized global efficiency and clustering coefficient were used as measures of functional integration and segregation, respectively. We found that overall, language networks of infants demonstrate the economic small-world organization in both resting and steady states. Moreover, language networks exhibited significantly higher functional integration and significantly lower functional segregation in resting state compared to steady state. A secondary analysis that investigated developmental effects of infants aged 6-months or below and above 6-months revealed that such topological differences in functional integration and segregation across resting and steady states can be reliably detected after the first 6-months of life. The higher functional integration observed in resting state suggests that language networks of infants facilitate more efficient parallel information processing across distributed language regions in the absence of speech stimuli. Moreover, higher functional segregation in steady state indicates that the speech information processing occurs within densely interconnected specialized regions in the language network.
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  • 文章类型: Journal Article
    环丙泊酚是一种新型麻醉剂,其有效性和安全性已得到验证,其临床应用已得到扩展。然而,儿童关于顺丙泊酚的知识很少。本研究的目的是评估环丙泊酚在儿童腺样体切除术和腺样体扁桃体切除术全身麻醉中的安全性和有效性。与异丙酚相比。
    我们回顾性分析了2023年6月至8月在全身麻醉下接受腺样体切除术或腺样体扁桃体切除术的儿童的数据,以评估顺丙酚的安全性和有效性。主要结果包括麻醉后监护病房诱导期间的血流动力学变化和术后并发症。次要结果是拔管时间,小儿麻醉出现谵妄(PAED)评分。同时,根据年龄进行亚组分析.
    301名儿童符合纳入标准,157人接受了丙泊酚诱导,144人接受了丙泊酚诱导。两组患者的人口统计学和手术相关信息相似。然而,丙泊酚组右美托咪定用量明显高于顺丙泊酚组(p=0.001).两组在诱导和插管期间的血流动力学变化趋势相同。顺丙泊酚组拔管后10min和20min的PAED评分显著降低(p<0.001,p=0.046)。此外,在≤72个月和>72个月的亚组中,拔管后10min,顺丙泊酚组的评分也显著降低.在评分>10分的人群和≤72个月的亚组中,在拔管后10min和20min,顺丙泊酚组出现谵妄的发生率明显降低(p=0.03和p=0.02)。两组术后均无明显并发症。
    环丙泊酚在儿童诱导中表现出有利的特征,比如稳定的血液动力学,术后谵妄发生率相对较低,无明显的麻醉后并发症。环丙泊酚可能成为儿科患者全身麻醉的一种新选择。
    UNASSIGNED: Ciprofol is a novel anesthetic agent, its efficacy and safety had been verified and its clinical implementation has been expanded. However, the knowledge about ciprofol in children is meager. The aim of study is to evaluate the safety and effectiveness of ciprofol in general anesthesia in children undergoing adenoidectomy and adenotonsillectomy, compared with propofol.
    UNASSIGNED: We retrospectively analyzed data of children who underwent adenoidectomy or adenotonsillectomy with general anesthesia from June to August 2023 to evaluate the safety and effectiveness of ciprofol. The primary outcomes included hemodynamic changes during induction and postoperative complications in post-anesthesia care unit. The secondary outcomes were extubation time, pediatric anesthesia emergence delirium (PAED) score. Meanwhile, subgroup analysis was performed based on age.
    UNASSIGNED: 301 children met the inclusion criteria, 157 received ciprofol induction and 144 received propofol. Patient demographics and operation-related information were similar in the two groups. However, the dosage of dexmedetomidine in the propofol group was significantly higher than that of the ciprofol group (p=0.001). The trends of hemodynamic shift during induction and intubation were the same in the two groups. The PAED scores on post-extubation 10min and 20min were significantly reduced in the ciprofol group (p<0.001 and p=0.046). Moreover, in the ≤72 months and the >72 months subgroups, the scores were also significantly lower in the ciprofol group on post-extubation 10min. With the score of >10, the incidence of emergence delirium of the ciprofol group was significantly lower on post-extubation 10min and 20min in the population and the ≤72 months subgroups (p=0.03 and p=0.02). There were no obvious postoperative complications in both groups.
    UNASSIGNED: Ciprofol exhibited advantageous characteristics in the induction of children, such as stable hemodynamics, a relatively lower incidence of postoperative delirium without apparent post-anesthesia complications. Ciprofol may emerge as a novel option for general anesthesia in pediatric patients.
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  • 文章类型: Journal Article
    BACKGROUND: Assessing dietary phenylalanine (Phe) tolerance is crucial for managing hyperphenylalaninemia (HPA) in children. However, traditionally, adjusting the diet requires significant time from clinicians and parents. This study aims to investigate the development of a machine-learning model that predicts a range of dietary Phe intake tolerance for children with HPA over 10 years following diagnosis.
    METHODS: In this multicenter retrospective observational study, we collected the genotypes of phenylalanine hydroxylase (PAH), metabolic profiles at screening and diagnosis, and blood Phe concentrations corresponding to dietary Phe intake from over 10 years of follow-up data for 204 children with HPA. To incorporate genetic information, allelic phenotype value (APV) was input for 2965 missense variants in the PAH gene using a predicted APV (pAPV) model. This model was trained on known pheno-genotype relationships from the BioPKU database, utilizing 31 features. Subsequently, a multiclass classification model was constructed and trained on a dataset featuring metabolic data, genetic data, and follow-up data from 3177 events. The final model was fine-tuned using tenfold validation and validated against three independent datasets.
    RESULTS: The pAPV model achieved a good predictive performance with root mean squared error (RMSE) of 1.53 and 2.38 on the training and test datasets, respectively. The variants that cause amino acid changes in the region of 200-300 of PAH tend to exhibit lower pAPV. The final model achieved a sensitivity range of 0.77 to 0.91 and a specificity range of 0.8 to 1 across all validation datasets. Additional assessment metrics including positive predictive value (0.68-1), negative predictive values (0.8-0.98), F1 score (0.71-0.92), and balanced accuracy (0.8-0.92) demonstrated the robust performance of our model.
    CONCLUSIONS: Our model integrates metabolic and genetic information to accurately predict age-specific Phe tolerance, aiding in the precision management of patients with HPA. This study provides a potential framework that could be applied to other inborn errors of metabolism.
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  • 文章类型: Journal Article
    BACKGROUND: Malaria is a major public health issue in Guinea and care-seeking behaviour is dominated by self-medication and delayed access to appropriate care. However early and appropriate care-seeking are essential to control and reduce complicate forms and mortality, particularly for the most vulnerable. This study was conducted to analyse the diagnostic pathway, and the factors associated with early and appropriate care-seeking for malaria patients in the Republic of Guinea.
    METHODS: A cross-sectional study was carried out between December 2022 to March 2023 in nine health districts within health facilities and at community level. The study population was confirmed malaria patients with RDT or microscopy. Kroeger\'s conceptual framework was used to design the questionnaire. Conventional recourse was defined as using a healthcare facility or community services, early and appropriate care-seeking was defined as within 24 h of symptom onset in a conventional recourse, and care pathway as the sequence of recourses followed by each patient. Sankey alluvial plots were used to represent patients\' diagnostic pathways, and logistic regression to identify factors associated with early and appropriate care-seeking.
    RESULTS: A total of 3300 malaria patients were studied, of which 1632 (49.45%) were female and 1132 (34.30%) were under 5 years of age, with a median age of 23 months. At the time of the survey, 1337 (40.52%), 1423 (43.12%), and 437 (13.85%) of patients were respectively in their first, second and third recourse. A total of 2002 (60.67%) patients had sought care from a conventional recourse as a first line. Of all patients, 1757 (53.25%) had sought care within 24 h, while 28.55% had sought early and appropriate care. In the initial stages of treatment, self-medication was the most common approach, used by 1214 (37.30%). Patients from the health districts of Boffa (Lower Guinea, coastal region) OR = 0.48 95% CI 0.33-0.70, Dabola (Upper Guinea, savanna region) OR = 0.43 95% CI 0.30-0.63 and Labe (Middle Guinea, mountain region) OR = 0.63 CI 95% 0.43-0.91 (p < 0.05) were more likely to delay appropriate care-seeking, when compared to those in Dixinn, (Conakry). However, the under 5-year-old group OR = 1.55 95% CI 1.30-1.85 (p < 0.001) and the availability of a stable monthly household income OR = 4.98 95% CI 3.03, 8.27 (p < 0.001) were positively associated with early and appropriate care seeking.
    CONCLUSIONS: A low rate of early and appropriate care-seeking was observed. Patients sought care through multiple means, often resulting in a delay in adequate management. The results show the need to deploy strategies adapted to the needs of communities.
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  • 文章类型: Journal Article
    OBJECTIVE: Childhood cancer survivors (CCS) have an increased risk of developing late chronic diseases, which can be influenced by the cancer type and its treatment. These chronic diseases can be severe and disabling, typically emerging years to decades after treatment. These deficits negatively impact quality of life, intelligence quotient, and memory. This study investigated how much the cancer type and treatment could affect the neurological hospitalisations in the French Childhood Cancer Survivors Study (FCCSS).
    METHODS: We included 5579 childhood cancer survivors (CCS), diagnosed with solid tumours or lymphoma between 1945 and 2000, treated before 2001 and below the age of 21 years at initial treatment. The follow-up period was from 2006 to 2018. Hospitalisation data were obtained by linkage with the National Health Data System. We calculated the relative hospitalisation rate (RHRs) and absolute excess rate (AERs). Multivariable analyses were conducted using a Generalized Linear Model (GLM) with a Poisson distribution to estimate the association between neurological hospitalisation and patient characteristics. The expected number of hospitalisations served as an offset to compare the risk for FCCSS survivors with that of the reference population. Risk estimates were reported as relative risk (RR) with 95% confidence intervals.
    RESULTS: The hospitalisation rate for CCS was 114.2 per 10,000 person-years (PY), compared to 48.4 in the reference population. The highest hospitalisation rates were observed for epilepsy (AER = 27.1 per 10000 PY, 95%CI: 23.5-31.2 and RHR = 5.1, 95%CI 4.4-5.7). In multivariable analyses, central nervous system (CNS) tumours survivors had the highest relative risk (RR) of hospitalisation (RR = 9.4, 95%CI: 6.7-13.1) followed by neuroblastoma survivors (RR = 2.5, 95%CI: 1.7-3.7). In the whole population, survivors who received radiation to the head and neck had a significantly higher risk of hospitalisation (RR = 3.9, 95%CI: 3.3-4.7) compared to those who did not receive radiotherapy.
    CONCLUSIONS: Head and neck irradiation was identified as a strong risk factor for hospitalisation. This underlines the importance of implementing specific neurologic surveillance programs for at-risk individuals.
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