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Disparities in child protective services involvement in pediatric traumatic brain injury. 儿童脑外伤中儿童保护服务的差异。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 DOI: 10.1007/s00383-024-05840-8
Rachel C Kim, Priya Aggarwal, Zirun Zhao, Regina Kuhia, Eleanor C Kim, Susan Fiore, David Chesler, Gillian Hopgood, Héctor E Alcalá, Helen Hsieh

Purpose: Traumatic brain injury (TBI) is a leading cause of pediatric death and disability. Abusive head trauma confers greater morbidity and mortality compared with accidental TBI. National trends reveal disproportionate involvement of minority children in the child welfare system. The study investigates socioeconomic disparities in child protective services (CPS) involvement in pediatric TBI.

Methods: Retrospective chart review was conducted for TBI patients (n = 596) admitted to an academic pediatric level I trauma center from 2015 to 2022, where institutional policy dictates automatic CPS referral for TBI patients ≤ 2 years. Analysis of variance, chi-squared, and logistic regressions compared racial and ethnic groups and calculated adjusted odds of CPS case acceptance.

Results: Rates of non-accidental trauma, CPS involvement, insurance, and marital status differed across racial and ethnic backgrounds (p < 0.05). Of patients ≤ 2 years, Hispanic patients (OR: 0.38, 95%CI [0.16,0.91]) had decreased odds of CPS involvement compared to non-Hispanic White patients when adjusting for confounders including injury severity, injury type, and socioeconomic status.

Conclusions: We highlight racial and ethnic differences in incidence of pediatric TBI and CPS involvement, even in the setting of an automatic CPS referral policy for pediatric TBI patients ≤ 2 years.

目的:创伤性脑损伤(TBI)是导致儿科死亡和残疾的主要原因。与意外创伤性脑损伤相比,虐待性头部创伤的发病率和死亡率更高。全国趋势表明,少数族裔儿童参与儿童福利系统的比例过高。本研究调查了儿童保护服务机构(CPS)介入小儿创伤性脑损伤的社会经济差异:方法:对2015年至2022年期间一家学术性儿科一级创伤中心收治的创伤性脑损伤患者(n = 596例)进行回顾性病历审查,该中心的政策规定,创伤性脑损伤患者年龄≤2岁时自动转诊至CPS。方差分析、卡方和逻辑回归比较了种族和民族群体,并计算了CPS病例接受的调整几率:结果:不同种族和民族的非意外创伤率、CPS 参与率、保险率和婚姻状况均存在差异(p 结论:我们强调了种族和民族在非意外创伤率、CPS 参与率、保险率和婚姻状况方面的差异:我们强调了小儿创伤性脑损伤发生率和 CPS 参与率的种族和民族差异,即使在小儿创伤性脑损伤患者的年龄小于 2 岁时,CPS 也会自动转诊。
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引用次数: 0
The long-term post-surgical outcome of intermediate anorectal malformation in our department. 我院肛门直肠中段畸形术后的长期疗效。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-23 DOI: 10.1007/s00383-024-05833-7
Ryo Tamura, Miori Kido, Kiyokuni Nakamura, Tsuyoshi Kuwahara, Taichi Hirotani, Yoshitomo Yasui, Hideaki Okajima

Background: Posterior sagittal anorectoplasty and laparoscopic-assisted anorectal pull-through are preferred for anorectal malformation (ARM) today, while careful pull-through procedures with sacroperineal approach yield excellent outcomes. This study focuses on a pull-through procedure emphasizing continence mechanism preservation and compares outcomes with historical studies with various procedures.

Methods: Bowel function of patients with intermediate ARM followed up for over 10 years post-surgically was assessed. Data collected included ARM type with the Krickenbeck classification, comorbidities, complications, post-surgical examinations, follow-up, and bowel function at the latest clinic visit. The literature review collected original articles including more than 10 post-anorectoplasty cases which were followed for over 10 years.

Results: Eleven cases were identified, with a median age at anorectoplasty and follow-up length of 6.9 months and 14.4 years. Two fistula recurrences required surgical treatment. Long-term incontinence and constipation were observed in 9% and 45% of the cohort, respectively. Good rectal angulation and a positive rectoanal inhibitory reflex were confirmed in most cases examined. A literature review identified eight studies with various outcome-measuring instruments.

Conclusion: Outcomes of the introduced pull-through procedure were favorable, while the literature review highlights the variation in outcomes of various anorectoplasty.

Evidence level: Level IV.

背景:如今,后矢状位肛门直肠成形术和腹腔镜辅助肛门直肠牵拉术是治疗肛门直肠畸形(ARM)的首选术式,而采用骶尾部入路的谨慎牵拉术也能取得很好的疗效。本研究的重点是强调保持肛门连续机制的牵拉通过术,并将其结果与历史上各种手术的研究结果进行比较:方法:对术后随访超过 10 年的中型 ARM 患者的肠道功能进行评估。收集的数据包括按克里肯贝克分类的 ARM 类型、合并症、并发症、术后检查、随访以及最近一次就诊时的肠道功能。文献综述收集了包括 10 个以上肛门直肠切除术后病例的原始文章,并对这些病例进行了 10 年以上的随访:结果:共发现 11 个病例,肛门直肠成形术时的中位年龄为 6.9 个月,随访时间为 14.4 年。有两例瘘管复发需要手术治疗。分别有 9% 和 45% 的患者出现长期尿失禁和便秘。大多数病例都证实直肠角度良好,直肠肛门抑制性反射阳性。文献综述发现有八项研究使用了不同的结果测量工具:结论:引入的拉通手术结果良好,而文献综述则强调了各种肛门直肠成形术结果的差异:证据等级:IV 级。
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引用次数: 0
The introduction of a mid-urethral stent for hypospadias surgery in toilet-trained children. 在如厕训练儿童尿道下裂手术中引入尿道中段支架。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-23 DOI: 10.1007/s00383-024-05836-4
Emmanuelle Seguier-Lipszyc, Andrew Shumaker, Kobi Stav, Anna Itshak, Amos Neheman

Purpose: To address the unique challenges presented by hypospadias repair in toilet-trained boys, we propose a modification to the standard stenting technique: implementation of a mid-urethral stent (MUS) extending beyond the urethroplasty, terminating distally to the sphincter mechanism. This modification upholds continence while facilitating normal voiding.

Methods: Toilet-trained boys undergoing hypospadias repair from 2009 to 2020 were retrospectively assessed. Patients were allocated into one of two groups: "Continent" drainage (a short stent was placed across the urethroplasty) or "incontinent" drainage (a standard stent or a Foley catheter was placed). Stent- related complications (dislodgement and obstruction) and surgical outcomes were compared.

Results: 545 children underwent hypospadias repair with 96 (17.6%) of them toilet-trained. The "continent" and "incontinent" groups consisted of 44 and 52 patients. No differences were found regarding age, severity of hypospadias, number of corrective procedures, operative time or surgical technique. Rates of stent-related complications did not differ. No significant difference was found regarding complications requiring additional surgery, including meatal stenosis and dehiscence. Post-operative fistula occurred in one patient in the continent group and in seven patients in the incontinent group.

Conclusion: Use of a continence-preserving MUS is a safe alternative in toilet-trained patients undergoing hypospadias repair without increasing risk of complications.

目的:为了应对尿道下裂修复术给如厕训练男孩带来的独特挑战,我们提出了一种对标准支架技术的改进方法:实施尿道中段支架(MUS),将其延伸至尿道成形术后,在远端终止于括约肌机制。这种修改既能保持排尿通畅,又能促进正常排尿:对2009年至2020年期间接受尿道下裂修复术的如厕训练男孩进行回顾性评估。患者被分为两组:"连续 "引流(在尿道成形术后放置一个短支架)或 "失禁 "引流(放置一个标准支架或 Foley 导管)。对支架相关并发症(脱落和梗阻)和手术效果进行了比较:545名儿童接受了尿道下裂修复术,其中96名(17.6%)接受了如厕训练。大便失禁 "组和 "小便失禁 "组分别有 44 名和 52 名患者。在年龄、尿道下裂的严重程度、矫正手术次数、手术时间或手术技巧方面没有发现差异。支架相关并发症的发生率没有差异。在需要进行额外手术的并发症方面,包括肉腔狭窄和开裂,也没有发现明显差异。大便失禁组有一名患者出现术后瘘,小便失禁组有七名患者出现术后瘘:结论:对于接受尿道下裂修补术的如厕训练患者来说,使用保留尿失禁功能的MUS是一种安全的选择,不会增加并发症风险。
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引用次数: 0
Classic divided sigmoidostomy vs loop sigmoidostomy in anorectal malformations: time for change? 肛门直肠畸形中的经典乙状结肠分段造口术与环状乙状结肠造口术:改变的时候到了?
IF 1.8 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-10 DOI: 10.1007/s00383-024-05834-6
Carla Ramirez-Amoros, Catarina Carvalho, María San Basilio, Leopoldo Martinez, Jose Luis Encinas, Alejandra Vilanova-Sanchez

Purpose

Divided sigmoidostomy (DS) is the classic stoma for patients with anorectal malformations (ARM). Loop sigmoidostomies (LS) in ARM are associated with a higher risk of stoma prolapse and urinary tract infections (UTI). This is not clearly supported by literature. We compared our experience with both techniques.

Methods

Retrospective study of ARM patients who underwent DS or LS between 2013 and 2023. We analysed demographics, associated malformations, intraoperative variables, oral intake and stoma functioning times, hospital stay, complications, prolapses, and UTI.

Results

Of 40 patients, 29 underwent open DS and 11 laparoscopic LS. Demographics, malformation type, associated anomalies, surgical time, intraoperative and anaesthetic complications were comparable. Postoperative complications were higher in DS than LS [14(48.3%) vs 1(9.1%), (p = 0.02)], mostly due to wound complications [12(41.3%) vs 0(0%), (p = 0.01)]; with 3 dehiscenses and 3 strictures reintervened. The hours to oral intake and stoma functioning were higher for DS [48(39–90) and 48(24–48) vs 24(24–48) and 24(24–24), (p < 0.05)], with more days of hospital stay [36(19–60) vs 8(5–10), (p = 0.001)]. Prolapses [1(3.4%) vs 1(9.1%)] and UTIs [3(10.3%) vs 1(9.1%) (p > 0.05)] were comparable.

Conclusion

LS in ARM patients have no higher risk of prolapse or UTI than DS. DS had more complications, mostly wound infections, strictures and dehiscenses.

目的分段乙状结肠造口术(DS)是肛门直肠畸形(ARM)患者的传统造口。对肛门直肠畸形患者实施环状乙状结肠造口术(LS)与造口脱垂和尿路感染(UTI)的高风险相关。这一点并没有得到文献的明确支持。我们对这两种技术的经验进行了比较。方法对 2013 年至 2023 年间接受 DS 或 LS 的 ARM 患者进行了回顾性研究。我们对人口统计学、相关畸形、术中变量、口服和造口功能时间、住院时间、并发症、脱垂和 UTI 进行了分析。结果 40 名患者中,29 人接受了开放式 DS,11 人接受了腹腔镜 LS。人口统计学、畸形类型、相关畸形、手术时间、术中并发症和麻醉并发症具有可比性。DS 术后并发症高于 LS[14(48.3%) vs 1(9.1%), (p = 0.02)],主要是由于伤口并发症[12(41.3%) vs 0(0%), (p = 0.01)];其中 3 例开裂,3 例狭窄需要再次手术。DS患者的口服时间和造口功能时间更长[48(39-90)小时和48(24-48)小时 vs 24(24-48)小时和24(24-24)小时,(p <0.05)],住院天数更多[36(19-60)天 vs 8(5-10)天,(p = 0.001)]。脱垂[1(3.4%) vs 1(9.1%)]和尿毒症[3(10.3%) vs 1(9.1%) (p > 0.05)]的发生率相当。DS的并发症较多,主要是伤口感染、狭窄和开裂。
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引用次数: 0
Development and validation of a realistic type III esophageal atresia simulator for the training of pediatric surgeons 开发和验证用于培训小儿外科医生的逼真 III 型食道闭锁模拟器
IF 1.8 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-09 DOI: 10.1007/s00383-024-05827-5
Javier Arredondo Montero, Blanca Paola Pérez Riveros, Oscar Emilio Bueso Asfura, Nerea Martín-Calvo, Francisco Javier Pueyo, Nicolás López de Aguileta Castaño

Background

The technical complexity and limited casuistry of neonatal surgical pathology limit the possibilities of developing the necessary technical competencies by specialists in training. Esophageal atresia constitutes the paradigm of this problem. The use of synthetic 3D models for training is a promising line of research, although the literature is limited.

Methods

We conceptualized, designed, and produced an anatomically realistic model for the open correction of type III oesophageal atresia. We validated it with two groups of participants (experts and non-experts) through face, construct, and content-validity questionnaires.

Results

The model was validated by nine experts and nine non-experts. The mean procedure time for the experts and non-experts groups was 34.0 and 38.4 min, respectively. Two non-experts did not complete the procedure at the designed time (45 min). Regarding the face validity questionnaire, the mean rating of the model was 3.2 out of 4. Regarding the construct validity, we found statistically significant differences between groups for the equidistance between sutures, 100% correct in the expert group vs. 42.9% correct in the non-expert group (p = 0.02), and for the item “Confirms that tracheoesophageal fistula closure is watertight before continuing the procedure”, correctly assessed by 66.7% of the experts vs. by 11.1% of non-experts (p = 0.05). Concerning content validity, the mean score was 3.3 out of 4 for the experts and 3.4 out of 4 for the non-experts.

Conclusions

The present model is a cost-effective, simple-to-produce, and validated option for training open correction of type III esophageal atresia. However, future studies with larger sample sizes and blinded validators are needed before drawing definitive conclusions.

背景新生儿外科病理学的技术复杂性和有限的病例限制了正在接受培训的专科医生发展必要技术能力的可能性。食道闭锁是这一问题的典型代表。方法我们构思、设计并制作了一个解剖逼真的模型,用于开放式矫正 III 型食道闭锁。我们通过对两组参与者(专家和非专家)进行表面、结构和内容有效性问卷调查,对该模型进行了验证。专家组和非专家组的平均程序时间分别为 34.0 分钟和 38.4 分钟。两名非专家没有在设计时间(45 分钟)内完成程序。在面效度问卷中,模型的平均评分为 3.2 分(满分 4 分)。在构造效度方面,我们发现各组之间在缝线间距的等距方面存在显著的统计学差异,专家组的正确率为 100%,而非专家组的正确率为 42.9%。在 "继续手术前确认气管食管瘘闭合不漏水 "这一项上,66.7% 的专家和 11.1%的非专家都能正确评估(P = 0.05)。在内容效度方面,专家的平均得分是 3.3 分(满分 4 分),非专家的平均得分是 3.4 分(满分 4 分)。然而,在得出明确结论之前,未来的研究还需要更大的样本量和盲法验证。
{"title":"Development and validation of a realistic type III esophageal atresia simulator for the training of pediatric surgeons","authors":"Javier Arredondo Montero, Blanca Paola Pérez Riveros, Oscar Emilio Bueso Asfura, Nerea Martín-Calvo, Francisco Javier Pueyo, Nicolás López de Aguileta Castaño","doi":"10.1007/s00383-024-05827-5","DOIUrl":"https://doi.org/10.1007/s00383-024-05827-5","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>The technical complexity and limited casuistry of neonatal surgical pathology limit the possibilities of developing the necessary technical competencies by specialists in training. Esophageal atresia constitutes the paradigm of this problem. The use of synthetic 3D models for training is a promising line of research, although the literature is limited.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>We conceptualized, designed, and produced an anatomically realistic model for the open correction of type III oesophageal atresia. We validated it with two groups of participants (experts and non-experts) through face, construct, and content-validity questionnaires.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The model was validated by nine experts and nine non-experts. The mean procedure time for the experts and non-experts groups was 34.0 and 38.4 min, respectively. Two non-experts did not complete the procedure at the designed time (45 min). Regarding the face validity questionnaire, the mean rating of the model was 3.2 out of 4. Regarding the construct validity, we found statistically significant differences between groups for the equidistance between sutures, 100% correct in the expert group vs. 42.9% correct in the non-expert group (<i>p</i> = 0.02), and for the item “Confirms that tracheoesophageal fistula closure is watertight before continuing the procedure”, correctly assessed by 66.7% of the experts vs. by 11.1% of non-experts (<i>p</i> = 0.05). Concerning content validity, the mean score was 3.3 out of 4 for the experts and 3.4 out of 4 for the non-experts.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>The present model is a cost-effective, simple-to-produce, and validated option for training open correction of type III esophageal atresia. However, future studies with larger sample sizes and blinded validators are needed before drawing definitive conclusions.</p>","PeriodicalId":19832,"journal":{"name":"Pediatric Surgery International","volume":"12 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142211020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Improving care and survival of newborns with surgical conditions in Tanzania (TINY Tanzania): a focus on gastroschisis. 改善坦桑尼亚手术新生儿的护理和存活率(坦桑尼亚 TINY):重点关注胃裂。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-06 DOI: 10.1007/s00383-024-05828-4
Godfrey Sama Philipo, Zaitun Mohamed Bokhary, Melanie Kapapa, Neema Lala Bayyo, Massawa Klint Nyamuryekung'e, Mohamed Salim, Lazaro Mboma, Alicia Massenga, Langa Michael, Meshack Mashara, Baraka Edward Mgaya, Raphael Mwita, Aron Desta, Jay Lodhia, Neema L Gwahela, Suba Martin Sindani, Frank Martin Sudai, Judith Lindert

Purpose: Gastroschisis is associated with over 90% mortality in many sub-Saharan African countries. The introduction of the Gastroschisis Care Bundle at Muhimbili National Hospital (MNH) increased survival up to 60%. We aim to explain the impact of using implementation science methods to decentralize the care of babies with gastroschisis to other parts of Tanzania.

Methods: We used a Step-Wedge Implementation Science design to scale up gastroschisis care through training of providers, dissemination and current revision of evidence-based care protocols, advocacy, and engagement with stakeholders. We used mixed methods for data collection. Anonymous patient and provider evaluation data were collected using a nationwide Gastroschisis Database via REDCap. We evaluated the implementation and effectiveness of the care bundle in different hospitals in Tanzania.

Results: Decentralizing care nationally was feasible, acceptable, and adaptable. A total of nine trainings have been conducted training 420 providers (14 Master Trainers) reaching seven regions of Tanzania. The three advocacy national campaigns have ensured community reach and patient engagement. A countrywide gastroschisis database was developed to collect data on patients with gastroschisis, hosted locally at MNH with 332 patients' data entered in 1 year. The majority (90.2%) were treated using preformed silo bags with an overall survival of 28.5% in all centers. Late presentation and infection remain to be the main challenge.

Conclusion: To achieve quality and sustainable surgical care, there is a need to design, implement, evaluate, and continuously improve context-relevant strategies to achieve and sustain the survival of neonates with congenital anomalies. Decentralization enables clear connectedness of hospitals, bringing care closer to patients.

目的:在撒哈拉以南的许多非洲国家,90%以上的胃十二指肠畸形都与死亡率有关。穆欣比利国立医院(Muhimbili National Hospital,MNH)引进的胃裂护理包将存活率提高了 60%。我们旨在解释使用实施科学方法将胃裂婴儿护理下放到坦桑尼亚其他地区所产生的影响:方法:我们采用了 "阶梯式楔形实施科学 "设计,通过对医疗服务提供者的培训、循证护理方案的传播和现行修订、宣传以及与利益相关者的接触,扩大了胃畸形护理的规模。我们采用混合方法收集数据。通过 REDCap 使用全国范围的胃裂孔数据库收集匿名患者和医疗服务提供者的评估数据。我们评估了护理包在坦桑尼亚不同医院的实施情况和效果:结果:在全国范围内分散护理是可行的、可接受的和可适应的。在坦桑尼亚的 7 个地区共开展了 9 次培训,培训了 420 名医疗服务提供者(14 名主培训师)。三项全国性宣传活动确保了社区覆盖率和患者参与度。开发了一个全国性的胃畸形数据库,以收集胃畸形患者的数据。大多数患者(90.2%)使用预制胃袋进行治疗,所有中心的总存活率为28.5%。晚期发病和感染仍是主要挑战:为实现高质量和可持续的外科治疗,有必要设计、实施、评估并不断改进与具体情况相关的策略,以实现并维持先天性畸形新生儿的存活率。权力下放使医院之间的联系更加紧密,使医疗服务更加贴近患者。
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引用次数: 0
Global survey on point-of-care ultrasound (pocus) use in child surgery. 关于儿童手术中使用护理点超声波 (pocus) 的全球调查。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-05 DOI: 10.1007/s00383-024-05797-8
Gerlin Naidoo, Mohammed Salim, Andrew Jackson, Ashok Handa, Kokila Lakhoo, Judith Lindert

Purpose: To undertake a global assessment of existing ultrasound practices, barriers to access, point-of-care ultrasound (POCUS) training pathways, and the perceived clinical utility of POCUS in Child Surgery.

Methods: An electronic survey was disseminated via the GICS (Global Initiative of Children's Surgery) network. 247 anonymized responses from 48 countries were collated. 71.3% (176/247) worked in child surgery.

Results: Ultrasound was critical to practice with 84% (147/176) of requesting one daily or multiple times per week. Only 10% (17/176) could access emergency ultrasound < 1 h from request. The main barrier was a lack of trained personnel. HIC surgeons were more likely to have ultrasound training (24/29; 82.8%) compared with LMICs (74/147; 50.3%) (p = .001319; CI 95%). Self-perceived POCUS competence was associated with regularity of POCUS use (p < 0.001; CI 95%). Those who already practice POCUS most commonly use it for trauma, intussusception, and ultrasound-guided procedures. Majority (90%; 159/176) of child surgeons would attend formal POCUS training if available.

Conclusions: Ultrasound is critically important in children's surgery globally, however, many surgeons experience barriers to timely access. There is a strong interest in learning POCUS for relevant pediatric surgical applications. Further research is needed to evaluate the best methods of training, accreditation, and governance.

目的:对儿童外科中现有的超声检查实践、使用障碍、床旁超声检查(POCUS)培训途径以及床旁超声检查的临床实用性进行全球评估:方法:通过 GICS(全球儿童外科倡议)网络进行电子调查。对来自 48 个国家的 247 份匿名回复进行了整理。71.3%(176/247)的受访者从事儿童外科工作:结果:84%(147/176)的受访者要求每天或每周多次使用超声波。只有 10%(17/176)能获得紧急超声检查结论:在全球范围内,超声波对儿童外科手术至关重要,但许多外科医生在及时获取超声波方面遇到了障碍。人们对学习相关儿科手术应用的 POCUS 有着浓厚的兴趣。需要进一步开展研究,以评估培训、认证和管理的最佳方法。
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引用次数: 0
Genomic instability in congenital lung malformations in children. 儿童先天性肺畸形的基因组不稳定性。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-05 DOI: 10.1007/s00383-024-05835-5
Ronald Rodrigues de Moura, Sara Patrizi, Emmanouil Athanasakis, Jurgen Schleef, Federica Pederiva, Adamo Pio d'Adamo

Purpose: To study the biological relationship between congenital lung malformations (CLMs) and malignancy.

Methods: Biopsies of 12 CPAMs, 6 intralobar sequestrations and 2 extralobar sequestrations were analyzed through whole-genome sequencing. Blood samples from 10 patients were used to confirm or exclude somatic mosaicism. Putative somatic Single Nucleotide Variants (SNVs) were called for each malformed sample with a Panel of Normals built with control DNA samples extracted from blood. The variants were subsequently confirmed by Sanger sequencing and searched, whenever possible, in the blood samples of patients.

Results: All CLMs but one presented a signature of genomic instability by means of multiple clusters of cells with gene mutations. Seven tumor transformation-related SNVs were detected in 6/20 congenital lung malformations. Four very rare in the general population SNVs were found in a region previously linked to lung cancer in 5p15.33, upstream of TERT oncogene. Furthermore, we identified missense genetic variants, whose tumorigenic role is well known, in the RET, FANCA and MET genes.

Conclusions: Genomic instability in 95% of CLMs and genetic variants linked to tumor development in 30% of them, regardless of histopathology, are predisposing factors to malignancy, that combined with exposure to carcinogens, might trigger the development of malignancy and explain the association between CLMs and lung cancer.

目的:研究先天性肺畸形(CLMs)与恶性肿瘤之间的生物学关系:通过全基因组测序分析了 12 例 CPAM、6 例肺叶内嵌塞和 2 例肺叶外嵌塞的活组织样本。10 例患者的血样用于确认或排除体细胞嵌合。利用从血液中提取的对照 DNA 样本建立的正常组,对每个畸形样本的推测体细胞单核苷酸变异(SNV)进行了调用。这些变异随后通过桑格测序进行了确认,并尽可能在患者的血液样本中进行了搜索:结果:除一种情况外,所有 CLM 都呈现出基因组不稳定的特征,即多个细胞群存在基因突变。在 6/20 例先天性肺畸形中发现了 7 个与肿瘤转化相关的 SNV。在TERT癌基因上游的5p15.33区域发现了4个在普通人群中非常罕见的SNV。此外,我们还在 RET、FANCA 和 MET 基因中发现了错义遗传变异,其致癌作用已众所周知:结论:95%的CLMs存在基因组不稳定性,30%的CLMs存在与肿瘤发生相关的基因变异,无论组织病理学如何,这些都是导致恶性肿瘤的易感因素,再加上接触致癌物质,可能会诱发恶性肿瘤的发生,并解释了CLMs与肺癌之间的关联。
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引用次数: 0
Correction to: Comprehensive meta‑analysis of surgical procedure for congenital diaphragmatic hernia: thoracoscopic versus open repair. 更正:先天性膈疝外科手术的综合荟萃分析:胸腔镜与开放式修补术。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-31 DOI: 10.1007/s00383-024-05832-8
Soichi Shibuya, Irene Paraboschi, Stefano Giuliani, Takafumi Tsukui, Andreea Matei, Maricarmen Olivos, Mikihiro Inoue, Simon A Clarke, Atsuyuki Yamataka, Augusto Zani, Simon Eaton, Paolo De Coppi
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引用次数: 0
Improving outcomes for uncomplicated gastroschisis: clinical practice guidelines from the American Pediatric Surgical Association Outcomes and Evidence-based Practice Committee. 改善无并发症胃裂的治疗效果:美国儿科外科学会治疗效果和循证实践委员会的临床实践指南。
IF 1.5 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-30 DOI: 10.1007/s00383-024-05819-5
Joanne Baerg, Jarod McAteer, Doug Miniati, Stig Somme, Mark Slidell

Background: The authors sought better outcomes for uncomplicated gastroschisis through development of clinical practice guidelines.

Methods: The authors and the American Pediatric Surgical Association Outcomes and Evidenced-based Practice Committee used an iterative process and chose two questions to develop clinical practice guidelines regarding (1) standardized nutrition protocols and (2) postnatal management strategies. An English language search of PubMed, MEDLINE, OVID, SCOPUS, and the Cochrane Library Database identified literature published between January 1, 1970, and December 31, 2019, with snowballing to 2022. The Appraisal of Guideline, Research and Evaluation reporting checklist was followed.

Results: Thirty-three studies were included with a Level of Evidence that ranged from 2 to 5 and recommendation Grades B-D. Nine evaluated standardized nutrition protocols and 24 examined postnatal management strategies. The adherence to gastroschisis-specific nutrition protocols promotes intestinal feeding and reduces TPN administration. The implementation of a standardized postnatal clinical management protocol is often significantly associated with shorter hospital stays, less mechanical ventilation use, and fewer infections.

Conclusions: There is a lack of comparative studies to guide practice changes that improve uncomplicated gastroschisis outcomes. The implementation of gastroschisis-specific feeding and clinical care protocols is recommended. Feeding protocols often significantly reduce TPN administration, although the length of hospital stay may not consistently decrease.

背景:作者希望通过制定临床实践指南来提高无并发症胃裂的治疗效果:作者希望通过制定临床实践指南来改善无并发症胃裂的治疗效果:作者和美国小儿外科协会结果与循证实践委员会采用迭代过程,选择了两个问题来制定临床实践指南,分别涉及(1)标准化营养方案和(2)产后管理策略。通过对 PubMed、MEDLINE、OVID、SCOPUS 和 Cochrane 图书馆数据库进行英文检索,确定了 1970 年 1 月 1 日至 2019 年 12 月 31 日期间发表的文献,并将其滚雪球式扩展至 2022 年。结果:结果:共纳入 33 项研究,证据等级为 2 至 5 级,建议等级为 B 至 D 级。其中 9 项研究评估了标准化营养方案,24 项研究探讨了产后管理策略。坚持胃十二指肠畸形专用营养方案可促进肠道喂养并减少TPN的使用。实施标准化的产后临床管理方案往往与缩短住院时间、减少机械通气的使用和减少感染有显著关系:结论:目前还缺乏比较研究来指导实践变革,以改善无并发症胃裂的预后。建议实施针对胃裂的喂养和临床护理方案。尽管住院时间可能不会持续缩短,但喂养方案通常会大大减少TPN的使用。
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Pediatric Surgery International
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