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A qualitative study of pediatric nurses' perception of factors affecting negotiation of care in a Pediatric Stem Cell Transplant Unit. 儿科护士对影响儿科干细胞移植病房护理协商的因素的定性研究。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-08-01 Epub Date: 2021-01-13 DOI: 10.23736/S2724-5276.20.06165-4
Simona Calza, Roberta Da Rin Della Mora, Alice Todeschini, Paolo Petralia, Silvia Scelsi

Background: The adoption of a "family centered care" (FCC) philosophy is essential for the care process and its negotiation. A better understanding of nurses' perception of factors that affect the process of negotiation could allow us to better address future interventions and to improve FCC. The purpose of our study was to investigate pediatric nurses' perception of factors that affect the process of negotiation of care with stem cell transplantation pediatric patients and their parents.

Methods: A qualitative research design with in-depth interviews was chosen. Sixteen interviews (16 nurses) were audio recorded and transcribed verbatim. Two researchers conducted independently a thematic analysis of the verbatim transcripts of the interviews.

Results: Four themes emerged from the data as factors that affect the process of negotiation: 1) communication; 2) personal factors; 3) specificity; and 4) organization.

Conclusions: These themes represent interesting points for future improvement interventions. Negotiation in the stem cell transplant setting would deserve further research, with special focus on children' and parents' perception of factors affecting this important aspect. Furthermore, in the future, negotiation guidelines could be validated and implemented effectively and an already validated tool could be used to document the negotiation process in the stem cell transplant setting.

背景:采用 "以家庭为中心的护理 "理念对于护理过程及其协商至关重要。更好地了解护士对影响协商过程的因素的看法,可以让我们更好地应对未来的干预措施,并改善 FCC。我们的研究旨在调查儿科护士对影响与干细胞移植儿科患者及其家长进行护理协商过程的因素的看法:我们选择了深入访谈的定性研究设计。对 16 个访谈(16 名护士)进行了录音和逐字转录。两名研究人员分别对访谈的逐字记录稿进行了主题分析:结果:从数据中得出了影响谈判过程的四个主题:(a) 沟通,(b) 个人因素,(c) 特殊性,以及 (d) 组织:结论:这些主题是未来改进干预措施的有趣点。干细胞移植环境中的协商值得进一步研究,尤其要关注儿童和父母对影响这一重要方面的因素的看法。此外,未来可以验证并有效实施协商指南,并使用已经验证的工具来记录干细胞移植环境中的协商过程。
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引用次数: 0
Risk factors associated with wheezing in severe pediatric community-acquired pneumonia: a retrospective study. 与严重儿科社区获得性肺炎喘息相关的风险因素:一项回顾性研究。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-06-01 Epub Date: 2021-01-13 DOI: 10.23736/S2724-5276.20.06065-X
Lumin Chen, Chong Miao, Yanling Chen, Xian Han, Ziying Lin, Hong Ye, Chengyi Wang, Huijie Zhang, Jingjing Li, Xi Liu, Libo Xu, Guanghua Liu

Background: Wheezing is a common clinical manifestation in children with pneumonia. However, the risk factors associated with the development of wheezing pneumonia and its clinical features are not fully characterized, especially in children with severe pneumonia.

Methods: We retrospectively recruited 1434 pediatric patients diagnosed with severe pneumonia between April 2012 and September 2019 in Fujian Maternity and Child Health Hospital. The medical records regarding demographic information, clinical manifestations, radiographic/laboratory findings, and complications were collected. Based on the presence or absence of wheezing symptoms and signs, subjects were divided into wheezing cohort (N.=684) and non-wheezing cohort (N.=750), and their clinical data were compared. Multivariate cox regression analysis was performed to identify independent risk factors of wheezing.

Results: Demographic features including gender, weigh, onset season, birth weight, full-term birth or not, history of pneumonia were significantly associated with the occurrence of wheezing in severe CAP (P<0.05). Specifically, male gender, onset seasons in autumn/winter, and absence of a history of pneumonia were identified as independent risk factors of wheezing in multivariate analysis (P<0.05). As for clinical features, wheezing cohort differed from the non-wheezing one in terms of clinical manifestation (higher incidence of cough and breathless, but lower incidence of fever), laboratory finding (higher levels of red blood cells, hemoglobin, and albumin and lower levels of total or indirect bilirubin and creatine), pathogen detection (higher incidence of respiratory syncytial viral infection), and clinical complications (lesser risk of sepsis and hydrothorax) (P<0.05).

Conclusions: Severe CAP with wheezing is a special clinical entity of severe pneumonia in children, which has specific risk factors and differ from non-wheezing pneumonia in terms of clinical features and etiologic pathogens.

背景:喘息是肺炎患儿常见的临床表现。然而,与喘息性肺炎发病相关的危险因素及其临床特征尚未完全定性,尤其是在重症肺炎患儿中:我们回顾性招募了福建省妇幼保健院 2012 年 4 月至 2019 年 9 月期间确诊为重症肺炎的 1434 例儿童患者。收集有关人口学信息、临床表现、影像学/实验室检查结果和并发症的病历资料。根据有无喘息症状和体征,将受试者分为喘息队列(684人)和非喘息队列(750人),并比较他们的临床数据。通过多变量考克斯回归分析确定喘息的独立风险因素:结果:性别、体重、发病季节、出生体重、是否足月分娩、肺炎史等人口统计学特征与重症 CAP 患者喘息的发生有显著相关性(结论:重症 CAP 患者喘息的发生率与其他风险因素有显著相关性:重症 CAP 伴喘息是儿童重症肺炎的一种特殊临床表现,具有特殊的风险因素,在临床特征和病原体方面与非喘息性肺炎不同。
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引用次数: 0
Urinary metabolome of infants with colic treated with Lactobacillus reuteri DSM 17938: a pilot randomized trial. 用 DSM 17938 型纽特乳酸杆菌治疗肠绞痛婴儿的尿液代谢组:一项试点随机试验。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-06-01 Epub Date: 2021-01-13 DOI: 10.23736/S2724-5276.20.06128-9
Francesco Savino, Vassilios Fanos, Antonio Noto, Deborah Biggio, Claudia Fattuoni, Luigi Barberini

Background: Lactobacillus reuteri DSM 17938 is the only probiotic recommended for treatment of colicky infants, but its mechanism of action is not clear. The study aim was to examine urinary metabolomic fingerprint of colicky breastfed infants before and after 1 month of orally administered Lactobacillus reuteri DSM 17938 or placebo.

Methods: This randomized, blinded, placebo-controlled clinical trial was carried out with a well-documented probiotic. Thirty-two infants were enrolled, 16 in the probiotic group and 16 in the placebo group. Urine samples were collected from each subject before starting supplementation and at the end of the study period. Metabolomic profiles were obtained using a gas chromatography/mass spectrometry instrument. Subsequently, to compare groups before and after probiotic supplementation, univariate and multivariate statistical analysis were performed.

Results: In the L. reuteri treated group all metabolites for all class of nutrients (sugars, amino acids, carboxylic acids) resulted more abundant after the study period. The comparison with a control group (placebo treated), confirmed this effect on urines.

Conclusions: The metabolomic analysis of urine samples from infants treated with L. reuteri DSM 17938 allowed to detect some interesting features related to the effect of this treatment on urinary metabolome. To validate the results, a test on a larger cohort is required.

背景:纽崔莱乳杆菌(Lactobacillus reuteri DSM 17938)是唯一被推荐用于治疗肠绞痛婴儿的益生菌,但其作用机制尚不清楚。研究目的是检测肠绞痛母乳喂养婴儿在口服沙雷氏乳杆菌 DSM 17938 或安慰剂 1 个月前后的尿液代谢指纹图谱:这项随机、盲法、安慰剂对照临床试验使用的是一种经过充分证明的益生菌。32名婴儿参加了试验,其中益生菌组和安慰剂组各16名。在开始服用补充剂之前和研究结束时,收集了每个受试者的尿液样本。使用气相色谱/质谱仪获得代谢组谱。随后,为了比较补充益生菌前后的组别,进行了单变量和多变量统计分析:结果:研究期结束后,添加了纽崔莱益生菌的研究组中所有营养物质(糖、氨基酸、羧酸)的代谢物含量都有所增加。与对照组(安慰剂治疗组)的比较证实了尿液中的这种效应:通过对使用 L. reuteri DSM 17938 治疗的婴儿尿液样本进行代谢组学分析,可以发现一些与这种治疗对尿液代谢组的影响有关的有趣特征。要验证这些结果,还需要在更大的群体中进行测试。
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引用次数: 0
The use of analgesics in pediatric patients with body injuries in pre-hospital conditions. 在院前条件下对身体受伤的儿科病人使用镇痛剂。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-06-01 Epub Date: 2020-10-27 DOI: 10.23736/S2724-5276.20.06094-6
Piotr K Leszczyński, Daryna Sholokhova, Arkadiusz Wejnarski

Background: Despite the positive dynamic changes in medicine and science, injuries continue to be the dominant cause of death among people under 45 years of age. Children's injuries are particularly dangerous as they can lead to hypovolemic shock, disability or even death. EMS uses opioid and non-opioid analgesics in order to provide relief to patients suffering from pain. The aim of this work is to analyze the types of pharmacological substances used in children in pre-hospital conditions.

Methods: The research tools included medical documentation of the emergency medical services in Poland. The analysis included 68,441 medical emergency treatment forms from 2016-2017, from which 464 interventions for children after trauma were selected. The general patient profile, characteristics of the event site, type of injuries suffered, type of intervening EMS, pharmacotherapy being used, as well as vital signs (GCS, RTS, HR, NiBP) were subject to assessment. The χ2 independence tests were performed, considering the results as statistically significant for P<0.05.

Results: There were 354 instances of BEMS (Basic Emergency Medical Services - without a doctor) and 110 instances of SEMS (Specialist Emergency Medical Services - with a doctor) sent to the emergency site. The mean age was 10.8±4.84 years. Boys were subject to intervention more often than girls (N.=283 vs. N.=181). Analgesics were administered in case of 49 (10.56%) patients only. Nonsteroidal anti-inflammatory drugs (NSAIDs) were the analgesics of choice, which were used in 25 patients (50%), while opioid analgesics were used in 10 patients (20.40%). Analgesia was mostly used in patients with lower limb (34.69%) and upper limb (30.61%) injuries. The lowest percentage of analgesic use was observed in patients with head and neck injuries (3.06%). There was a significant relationship demonstrated between the type of EMS and the use of analgesics (χ2=6.330; P=0.012).

Conclusions: Analgesia with EMS in children with injuries is critically insufficient. NSAIDs are the most commonly administered drugs in pre-hospital conditions. Head and torso injuries reduce the percentage of drugs administered by EMS. The EMS teams with no doctors (BEMS) are significantly more likely to use anesthetics, compared to SEMS.

背景:尽管医学和科学发生了积极的动态变化,但伤害仍是 45 岁以下人群死亡的主要原因。儿童受伤尤其危险,因为它们可能导致低血容量性休克、残疾甚至死亡。急救服务使用阿片类和非阿片类镇痛药来缓解患者的疼痛。这项工作旨在分析儿童在院前情况下使用的药理物质类型:研究工具包括波兰紧急医疗服务的医疗文件。分析对象包括2016-2017年的68441份医疗急救治疗表格,从中选取了464项针对儿童创伤后的干预措施。对患者的一般情况、事件发生地点的特征、受伤类型、干预急救服务的类型、使用的药物疗法以及生命体征(GCS、RTS、HR、NiBP)进行了评估。进行了χ2独立性检验,认为结果的pResults具有统计学意义:共有 354 例 BEMS(基本紧急医疗服务--无医生)和 110 例 SEMS(专业紧急医疗服务--有医生)被送往急救现场。平均年龄为 10.8 (SD ± 4.84)岁。男孩接受干预的次数多于女孩(分别为 283 次和 181 次)。只有 49 例(10.56%)患者使用了止痛药。非甾体抗炎药(NSAIDs)是首选镇痛药,25 名患者(50%)使用了这种药物,10 名患者(20.40%)使用了阿片类镇痛药。镇痛药主要用于下肢(34.69%)和上肢(30.61%)受伤的患者。头颈部受伤的患者使用镇痛药的比例最低(3.06%)。急救服务的类型与镇痛剂的使用之间存在明显关系(χ2=6.330;P=0.012):结论:受伤儿童使用急救医疗服务时的镇痛严重不足。非甾体抗炎药是院前条件下最常用的药物。头部和躯干受伤降低了急救服务的用药比例。与 SEMS 相比,没有医生的 EMS 团队(BEMS)使用麻醉剂的可能性更大。
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引用次数: 0
Evaluation of factors affecting total nucleated cells in umbilical cord blood collected for the Calabria Cord Blood Bank. 评估影响卡拉布里亚脐带血库收集的脐带血总核细胞的因素。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-06-01 Epub Date: 2020-12-11 DOI: 10.23736/S2724-5276.20.06096-X
Giulia Pucci, Giovanni Foti, Rosangela Surace, Renza Monteleone, Domenica Princi, Enrico Fabrizi, Giuseppe Quattrone, Roberto Miniero, Antonio Liverani, Valentina Talarico

Background: Total nucleated cell (TNC) count is the most important biological feature to consider in assessing the quality of umbilical cord blood (UCB) for hematopoietic stem cell (HSC) transplantation. Certain obstetric factors have been reported to increase TNC count in UCB units collected for transplantation. The aim of our study was to analyze how various maternal, neonatal and obstetric factors affected TNC count in the UCBs we collected for our cord blood bank in southern Italy.

Methods: We performed a retrospective analysis of 634 medical records of UCBs collected by Calabria Cord Blood Bank (CCBB), Reggio Calabria, Italy, between January 1, 2010, and December 31, 2016. We analyzed various maternal, neonatal and obstetric variables factors and related this factor with the characteristic of TNC.

Results: We found that the average number of TNCs was significantly greater in vaginal delivery than in caesarean delivery. We also found that TNCs were higher in the 40th week of pregnancy and when Apgar 1' scores were ≤9. The effect of a newborn's gender was less evident on TNC count.

Conclusions: Knowledge of factors predictive of a higher TNC count would help cord blood banks more efficiently identify donors likely to yield high-quality UCBs for transplantation.

背景:在评估用于造血干细胞(HSC)移植的脐带血(UCB)质量时,总核细胞数(TNC)是最重要的生物学特征。据报道,某些产科因素会增加为移植收集的 UCB 单位中的 TNC 数量。我们的研究旨在分析各种孕产妇、新生儿和产科因素如何影响我们为意大利南部脐带血库收集的 UCB 中的 TNC 数量:我们对卡拉布里亚脐带血库(CCBB)在 2010 年 1 月 1 日至 2016 年 12 月 31 日期间收集的 634 份 UCB 病历进行了回顾性分析。我们分析了各种产妇、新生儿和产科变量因素,并将这些因素与 TNC 的特征联系起来:结果:我们发现,阴道分娩的 TNC 平均数量明显多于剖腹产。我们还发现,在怀孕第 40 周和 Apgar 1'评分低于 9 分时,TNC 数量较多。新生儿性别对TNC数量的影响不明显:结论:了解TNC计数较高的预测因素有助于脐带血库更有效地识别可能为移植提供高质量UCB的捐献者。
{"title":"Evaluation of factors affecting total nucleated cells in umbilical cord blood collected for the Calabria Cord Blood Bank.","authors":"Giulia Pucci, Giovanni Foti, Rosangela Surace, Renza Monteleone, Domenica Princi, Enrico Fabrizi, Giuseppe Quattrone, Roberto Miniero, Antonio Liverani, Valentina Talarico","doi":"10.23736/S2724-5276.20.06096-X","DOIUrl":"10.23736/S2724-5276.20.06096-X","url":null,"abstract":"<p><strong>Background: </strong>Total nucleated cell (TNC) count is the most important biological feature to consider in assessing the quality of umbilical cord blood (UCB) for hematopoietic stem cell (HSC) transplantation. Certain obstetric factors have been reported to increase TNC count in UCB units collected for transplantation. The aim of our study was to analyze how various maternal, neonatal and obstetric factors affected TNC count in the UCBs we collected for our cord blood bank in southern Italy.</p><p><strong>Methods: </strong>We performed a retrospective analysis of 634 medical records of UCBs collected by Calabria Cord Blood Bank (CCBB), Reggio Calabria, Italy, between January 1, 2010, and December 31, 2016. We analyzed various maternal, neonatal and obstetric variables factors and related this factor with the characteristic of TNC.</p><p><strong>Results: </strong>We found that the average number of TNCs was significantly greater in vaginal delivery than in caesarean delivery. We also found that TNCs were higher in the 40<sup>th</sup> week of pregnancy and when Apgar 1' scores were ≤9. The effect of a newborn's gender was less evident on TNC count.</p><p><strong>Conclusions: </strong>Knowledge of factors predictive of a higher TNC count would help cord blood banks more efficiently identify donors likely to yield high-quality UCBs for transplantation.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38702618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Respiratory polygraphy in children with bronchopulmonary dysplasia: a retrospective study. 支气管肺发育不良患者的呼吸多导图:一项回顾性研究。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-06-01 Epub Date: 2020-12-11 DOI: 10.23736/S2724-5276.20.06088-0
Carlo De Pieri, Brigitte Fauroux, Sonia Khirani, Briac Thierry, Christophe Delacourt, Paola Cogo, Alessandro Amaddeo

Background: Periodic assessment of the need for oxygen supplementation and/or mechanical ventilation in children with severe bronchopulmonary dysplasia (BPD) is crucial. The aim of the study was to analyze the indications and results of respiratory polygraphies (RP) performed in preterm infants with BPD followed at a tertiary university hospital.

Methods: All subjects <5-year-old with BPD who had a RP between September and February 2018 were included. The indications and results of RP and consequent medical management were analyzed.

Results: Fourteen infants (9 females, mean gestational age 27.6±3.3 weeks) underwent a RP at mean age of 26.4±19.4 months. Five subjects were evaluated for the need of long-term respiratory support (RS), 3 started continuous positive airway pressure (CPAP), 2 were weaned from RS. Four subjects underwent RP for suspected obstructive sleep apnea (OSA), one started on CPAP. Central apnea syndrome (CSA) was confirmed in 2 subjects and one was started on non-invasive ventilation. RP allowed safe tracheostomy decannulation in 2 subjects. Finally, RP was normal in one subject who had a brief resolved unexplained event.

Conclusions: RP represents an important tool for the evaluation of children with BPD and leads to important therapeutic decisions.

背景:定期评估严重支气管肺发育不良(BPD)患儿是否需要补充氧气和/或机械通气至关重要。本研究旨在分析一家三级大学医院对患有支气管肺发育不良的早产儿进行呼吸测谎(RP)的适应症和结果:纳入2018年9月至2月期间进行过RP的所有小于5岁的BPD受试者。分析了RP的适应症、结果以及随后的医疗管理:14名婴儿(9名女性,平均胎龄(27.6±3.3)周)在平均年龄(26.4±19.4)个月时接受了RP。5 名受试者接受了是否需要长期呼吸支持(RS)的评估,3 名开始使用持续气道正压(CPAP),2 名脱离了 RS。4 名受试者因疑似阻塞性睡眠呼吸暂停(OSA)接受了 RP 治疗,1 名开始使用 CPAP。两名受试者被证实患有中枢性呼吸暂停综合征(CSA),其中一人开始使用无创通气。2 名受试者通过 RP 安全解除了气管造口术。最后,一名发生短暂不明原因事件(BRUE)的患者的 RP 正常:RP是评估BPD患儿的重要工具,可帮助做出重要的治疗决定。
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引用次数: 0
Parental stress in the relationship with children affected by chronic hematologic disease. 父母与慢性血液病患儿关系中的压力。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2020-11-11 DOI: 10.23736/S2724-5276.20.05912-5
Alessia Ribilotta, Marina Sergio, Dorella Scarponi

Background: Sickle cell disease (SCD) and autoimmune thrombocytopenic purpura (AITP) are pediatric diseases which frequently are associated with cognitive, social and emotional complications and can lead caregivers to important consequences. The aim of this study was to examine the potential psychologic parental distress and the plausible interference with suffering of their children.

Methods: We recruited 39 parents of 44 pediatric patients and divided them into two groups: patients affected by SCD and patients affected by AITP. Parenting Stress Index Short-form (PSI-SF) was proposed to the parents. We investigated the statistical correlations between the PSI-SF variables of the test, the patients scores at the cognitive test, the patients age, and the scores obtained at the mood test.

Results: The analysis of the parents scores obtained by the test reported that the stress levels of the parents of children affected by SCD are higher than those the other group. The analysis of the data showed that 72% of the patients score was average in the cognitive test, whereas 28% of them obtained a score below average; in the mood assessment tests: 35% of the patients reported elevated scores in the depression subscale; 21% showed an elevated score in the anxiety subscale.

Conclusions: The data obtained provide us useful indications about pattern of behavior between the parents and the children affected by chronic hematological diseases. The differences in the perception of the parental distress were associated with children's disease, social problems increased parental distress, which was correlated with depression symptoms of the children.

背景:镰状细胞病(SCD)和自身免疫性血小板减少性紫癜(AITP)是儿科疾病,经常与认知、社交和情感并发症相关,并可能导致照顾者产生重要后果。本研究旨在探讨父母的潜在心理困扰及其对子女痛苦的合理干扰:我们招募了 44 名儿科患者的 39 名父母,并将他们分为两组:受 SCD 影响的患者和受 AITP 影响的患者。我们向家长提出了养育压力指数简表(PSI-SF)。我们对测试中的 PSI-SF 变量、患者认知测试得分、患者年龄和情绪测试得分之间的统计学相关性进行了研究:结果:对测试中家长得分的分析表明,SCD患儿家长的压力水平高于其他群体。数据分析显示,72% 的患者在认知测试中得分中等,而 28% 的患者在情绪评估测试中得分低于平均水平:在情绪评估测试中:35%的患者在抑郁分量表中得分升高;21%的患者在焦虑分量表中得分升高:所获得的数据为我们提供了有关慢性血液病患者父母与子女之间行为模式的有用信息。父母对子女痛苦感知的差异与子女的疾病有关,社会问题增加了父母的痛苦感,而父母的痛苦感又与子女的抑郁症状相关。
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引用次数: 0
How the pandemic spread of COVID-19 affected children's traumatology in Italy: changes of numbers, anatomical locations, and severity. COVID-19 的大流行对意大利儿童创伤科的影响:数量、解剖位置和严重程度的变化。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2020-10-05 DOI: 10.23736/S2724-5276.20.05910-1
Antonio Memeo, Daniele Priano, Camilla Caldarini, Paolo Trezza, Melania Laquidara, Lucrezia Montanari, Pietro Randelli

Background: The study aim was to share our experience in hospital reorganization and management of pediatric traumatology in the early stage of COVID-19 pandemic. We centralized pediatric traumatology supposing a reduction of ER admissions, with increased severity of conditions, and a change in fracture patterns; consequently, we reorganized our structure. The COVID-19 epidemic in Europe has seen Italy as the first focus starting from February 21, 2020. Lombardy has been the most affected area. The initial NHS approach determined a high percentage of hospital admissions that led to early overload of hospitals, and we had to reorganize our structure to face the emergency.

Methods: We retrospectively evaluated the admission and treatment data to observe the epidemiological evolution of pediatric trauma during the lockdown ordinance and compared them with the same period in 2019.

Results: We found a reduction of 78% pediatric visits in the ER but no decrease in the number of pediatric fractures. We found a rate of pediatric fractures increased by 21.62%: the upper limb fractures being the most representative.

Conclusions: Our expectations were confirmed. We believe that the reorganization and the guidelines by us designed have been effective to spare resources and subtract the pediatric traumatology load from those hospitals dealing with an unexpected number of critical COVID-19 patients. Even if we experienced a significant reduction of pediatric admissions to our trauma ER, the presence of a determined number of fractures justifies the necessity of a specialized hub to collect all pediatric fractures.

背景:本研究旨在分享我们在 COVID-19 大流行初期进行医院重组和管理儿童创伤科的经验。我们对儿童创伤科进行了集中管理,以减少急诊室入院人数,同时提高病情的严重性,改变骨折模式,并因此对我们的结构进行了重组。自 2020 年 2 月 21 日起,COVID-19 在欧洲的流行已将意大利作为首个重点国家。伦巴第是疫情最严重的地区。最初的国家医疗服务体系(NHS)方法确定了较高的入院比例,这导致医院提前超负荷运转,我们不得不重组我们的结构以应对紧急情况:我们对入院和治疗数据进行了回顾性评估,以观察封锁期间儿科创伤的流行病学演变,并与 2019 年同期进行了比较:我们发现急诊室的儿科就诊人数减少了78%,但儿科骨折的数量却没有减少,相反,我们发现儿科骨折的发生率增加了21.62%。结论:我们的预期得到了证实:我们的预期得到了证实。我们认为,我们设计的重组和指导方针有效地节省了资源,并减轻了处理 COVID-19 危重病人的医院的儿科创伤负担。即使我们的创伤急诊室收治的儿科病人数量大幅减少,但由于骨折的数量已经确定,因此有必要建立一个专门的中心来收集所有的儿科骨折病例。
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引用次数: 0
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype. 新生儿筛查发现的 21- 羟化酶缺乏症:生长模式与基因型无关。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-02-01 Epub Date: 2020-06-05 DOI: 10.23736/S2724-5276.20.05795-3
Jan David, Zuzana Hrubá, Stanislava Kolouâková, Felix Votava

Background: Normalizing growth in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) requires a long-term maintenance of a fragile balance between hydrocortisone (HC) replacement and androgen suppression. The growth pattern in children with 21OHD-CAH diagnosed by clinical symptoms has been evaluated in numerous retrospective studies. The aim of this study was to evaluate growth of patients with 21OHD-CAH detected by newborn screening (NBS), prior to clinical symptoms.

Methods: Nation-wide NBS for 21OHD-CAH was implemented in the Czech Republic in 2006. Since then, 1,317,987 neonates were screened (2006-2017) and 21OHD-CAH was confirmed in 108 patients. Growth was evaluated as height-standard deviation score (SDS) at regular time-points, related to bone age and compared to recent population standards. In 88 patients, available data allowed long-term evaluation of growth, HC and fludrocortisone doses (in half-year intervals), with a median observation period of ten years.

Results: Body height in affected children was shorter between years 1-9 of life with a nadir at age 1-3 years. Their height did not differ from general population at the age 10-12 years. There were not found differences according to 21OHD-CAH severity.

Conclusions: NBS is an effective secondary prevention tool for the early detection of 21OHD-CAH which improves growth patterns. A significant growth deceleration was observed during infancy and early childhood periods but with following height normalization. Growth pattern was not associated with the genotype of 21OHD, if patients have been detected by NBS.

背景:21-羟化酶缺乏症(21OHD-CAH)导致的先天性肾上腺皮质增生症患儿的正常生长需要长期维持氢化可的松(HC)替代和雄激素抑制之间脆弱的平衡。许多回顾性研究都对通过临床症状确诊的 21OHD-CAH 儿童的生长模式进行了评估。本研究旨在评估通过新生儿筛查(NBS)发现的21OHD-CAH患者在出现临床症状之前的生长情况:方法:捷克共和国于 2006 年在全国范围内开展了 21OHD-CAH 新生儿筛查。从那时起,共筛查了 1,317,987 名新生儿(2006-2017 年),108 名患者被确诊为 21OHD-CAH 患者。生长情况以身高标准偏差评分(SDS)进行定期评估,与骨龄相关,并与最新的人口标准进行比较。在 88 名患者中,可用数据可对生长、HC 和氟氢可的松剂量(每半年一次)进行长期评估,中位观察期为 10 年:结果:受影响儿童的身高在出生后 1-9 年间较矮,在 1-3 岁时达到最低点。他们的身高在 10-12 岁时与普通人群没有差异。没有发现 21OHD-CAH 严重程度的差异:结论:NBS是早期发现21OHD-CAH的有效二级预防工具,可改善生长模式。在婴儿期和幼儿期观察到明显的生长减速,但随后身高趋于正常。如果患者是通过 NBS 检测出来的,则生长模式与 21OHD 的基因型无关。
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引用次数: 0
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example. 关节突眼症是一个描述性术语,而不是一种特定的疾病实体:埃斯科巴综合征就是一个例子。
IF 2.6 4区 医学 Q2 Medicine Pub Date : 2024-02-01 Epub Date: 2020-06-12 DOI: 10.23736/S2724-5276.20.05796-5
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Sami Bouchoucha, Vladimir Kenis, Mohammad Shboul, Rudolf Ganger, Franz Grill, Susanne G Kircher

Background: Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered.

Methods: The records of seven children (four boys and three girls aged 6 months - 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker-bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar Syndrome has been approached.

Results: The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods.

Conclusions: The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar.

背景:先天性多发挛缩症患儿几乎总是被诊断为先天性多关节畸形。关节挛缩症是一个描述性术语,而不是一种特定的疾病实体。应考虑与多发性先天性关节挛缩(多为综合征)相关的一组异质性疾病:本研究收集了 7 名不同种族儿童(4 男 3 女,年龄在 6 个月至 11 岁之间)的病历。除了外八字腿、马蹄内翻足和摇椅底足之外,患者还伴有特殊的颅面畸形特征、脊柱畸形综合征和附肢骨骼异常。通过全面的临床和影像学研究(三维重建 CT 扫描),最终确诊为埃斯科巴综合征:临床和影像学表型是了解病因、治疗和确认基因型的关键因素。我们在四名患者中发现了 CHRNG 基因的复合杂合突变(c.459dupA [p.Val154Serfs*24] 和 c.794T>G [p.Leu265Serfs*24])。使用 Iliazarov 外固定器治疗了双侧膝关节屈曲挛缩。通过使用传统的双生长棒或单生长棒,脊柱侧弯得到了同时矫正:临床和放射学表型特征是区分埃斯科巴和其他形式的多发性挛缩的基本工具。本研究的目的有三个方面:首先,证明了对患有多发性挛缩的儿童进行病因学检查的重要性;其次,驳斥了绝大多数儿科医生和骨科医生认为多发性关节畸形是一种诊断实体的普遍观念。第三,我们能够通过三维重建CT扫描发现严重的脊柱畸形,即脊柱后方无节段。
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Minerva pediatrica
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