congenital diaphragmatic hernia

先天性膈疝
  • 文章类型: Case Reports
    Bochdalek疝是最常见的先天性diaphragm肌畸形,后外侧部分有缺陷。其成年后临床表现少见。这通常是偶然的发现,它的诊断可能具有挑战性。高度怀疑是必要的,尤其是在出现心肺或腹部症状且初次胸部X线检查发现不明确的情况下。我们介绍了一例无症状的50岁男性患者,患有笨重的左侧Bochdalek\'s疝气。需要手术治疗,并在大网膜疝复位后直接缝合缺损,横结肠,胰腺的尾部从上中线剖腹手术进行。术后进展顺利,患者在术后第五天出院。讨论了在急性和慢性环境中患有此类疝气的成年患者的管理,并提出了一些建议,以尽量减少不必要的陷阱。
    Bochdalek\'s hernia is the most common congenital malformation of the diaphragm with a defect in its posterolateral part. Its clinical manifestation in adulthood is rare. It is often an incidental finding, and its diagnosis may be challenging. A high index of suspicion is necessary, especially in cases presenting with cardiopulmonary or abdominal symptoms and an ambiguous finding on the initial chest X-ray. We present a case of an asymptomatic 50-year-old male patient with a bulky left-sided Bochdalek\'s hernia. Surgical treatment was indicated, and a direct suture of the defect after reduction of the herniated greater omentum, transverse colon, and tail of the pancreas was performed from the upper midline laparotomy. The postoperative course was uneventful, and the patient was discharged on the fifth postoperative day. The management of adult patients with these kinds of hernias in both acute and chronic settings is discussed, and some recommendations are mentioned to minimize unnecessary pitfalls.
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  • 文章类型: Case Reports
    背景:Morgagni疝(MH)是先天性膈疝(CDH)的一种形式,其特征是膈肌的不完全形成,导致腹部器官突出进入胸腔。CDH的估计发病率在2000年的1例和5000例活产中的1例之间,虽然真正的发病率是未知的。MH通常出现在儿童时期,可以在产前或产后诊断。然而,它也可能是无症状的,并有在成年期发展为危及生命的疾病的风险。
    方法:一名76岁女性,既往无腹部手术史,为息肉监测进行选择性结肠镜检查。在手术过程中,当接近肝曲时,尽管进行了多次尝试,但范围仍无法进一步推进。患者出现轻微的腹部不适,导致手术流产。在恢复区,她出现了越来越多的腹痛和低血压。紧急腹部成像显示近端横结肠通过MH进入胸部,有穿孔的证据。患者行腹腔镜紧急结肠切除术和原发性疝修补术,2天后顺利出院。
    结论:成人MH是一种罕见的疾病,可作为结肠镜检查的危及生命的并发症,即使是有正常结肠镜检查史的患者。这种情况突出了在结肠镜检查期间面临突然和无法解释的困难时考虑先天性和内部疝的重要性。如果怀疑MH,内镜医师应停止手术,并立即进行腹部影像学检查以确认诊断。
    BACKGROUND: Morgagni hernia (MH) is a form of congenital diaphragmatic hernia (CDH) characterized by an incomplete formation of diaphragm, resulting in the protrusion of abdominal organs into the thoracic cavity. The estimated incidence of CDH is between 1 in 2000 and 1 in 5000 live births, although the true incidence is unknown. MH typically presents in childhood and can be diagnosed either prenatally or postnatally. However, it can also be asymptomatic and carry the risk of developing into a life-threatening condition in adulthood.
    METHODS: A 76-year-old female with no history of prior abdominal surgeries presented for an elective colonoscopy for polyp surveillance. During the procedure, when approaching the hepatic flexure, the scope could not be advanced further despite multiple attempts. The patient experienced mild abdominal discomfort, leading to the abortion of the procedure. While in the recovery area, she developed increasing abdominal pains and hypotension. Urgent abdominal imaging revealed herniation of the proximal transverse colon through a MH into the chest with evidence of perforation. The patient underwent laparoscopic urgent colonic resection and primary hernia repair and was discharged uneventfully 2 d later.
    CONCLUSIONS: A MH is a rare condition in adults that can present as a life-threatening complication of colonoscopy, even in patients with a history of uneventful colonoscopies. This case highlights the importance of considering congenital and internal hernias when faced with sudden and unexplained difficulties during colonoscopy. If there is a suspicion of MH, the endoscopist should halt the procedure and immediately obtain abdominal imaging to confirm the diagnosis.
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  • 文章类型: Case Reports
    先天性膈疝主要见于婴儿,由于新生儿呼吸窘迫,死亡率很高。最常见的先天性膈疝是Bochdalek疝,发生在后外侧膈肌,左侧是最常见的影响。然而,先天性膈疝在成人中极为罕见,并且由于其微妙的症状而经常被误诊。因此,我们建议,对于所有突发剧烈疼痛或反复出现胸部和腹部模糊症状的患者,应采用CT增强扫描进行早期筛查和诊断.此病例报告显示,成年男性罕见发生Bochdalek疝气。患者进食后出现非特异性腹部症状。疝气导致左肾移位,脾曲的横结肠,大部分胃进入胸腔。这种移位导致左肺肺不张,达到了产能的五分之三。患者使用腹腔镜和开放手术的组合进行了成功的治疗。进行了两周的后续CT扫描,三个月,一年后,病情稳定,没有并发症。
    Congenital diaphragmatic hernias are primarily found in infants and have a high mortality rate due to neonatal respiratory distress. The most common type of congenital diaphragmatic hernia is Bochdalek hernia, which occurs in the posterolateral diaphragm, with the left side being the most commonly affected. However, congenital diaphragmatic hernias are extremely rare in adults and are often misdiagnosed due to their subtle symptoms. Therefore, we suggest that a contrast-enhanced CT scan should be used for early screening and diagnosis in all patients with sudden severe pain or recurrent ambiguous symptoms in the chest and abdomen. This case report presents a rare occurrence of Bochdalek hernia in an adult male. The patient experienced nonspecific abdominal symptoms after eating. The hernia resulted in the displacement of the left kidney, the transverse colon of the splenic flexure, and most of the stomach into the thoracic cavity. This displacement led to atelectasis of the left lung, which reached three-fifths of its capacity. The patient underwent successful treatment using a combination of laparoscopy and open surgery. Follow-up CT scans conducted two weeks, three months, and one year later revealed a stable condition with no complications.
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  • 文章类型: Journal Article
    背景:先天性膈疝(CDH)是一种危及生命的疾病,产前诊断的先天性异常。我们旨在描述德克萨斯州CDH婴儿的护理和结局以及治疗设施对护理量的影响。
    方法:使用全州住院患者出院公共使用数据文件进行了回顾性队列研究(2013-2021)。使用CDHICD-9/ICD-10编码纳入<1岁的新生儿和婴儿。被转移到外部医院的新生儿被排除在外,以避免重复计算。描述性统计,进行卡方和logistic回归分析。
    结果:在确定的1314例CDH患者中,728(55%)发生在5个较高体积的中心(HVC,>75例),9个中量中心的326个(25%)(MVC,20-75例)和268例(20%)在79个低容量中心(LVC,<20例)。HVC的死亡率较低(18%,MVC22%vsLVC27%;p=0.011)尽管治疗了病情较重的患者(极端疾病严重程度:HVC71%,MVC62%对LVC50%;p<0.001),住院时间更长(p<0.001)。在136(10%)中使用了体外膜氧合,主要在HVC中提供。LVC治疗比例更多的非白人西班牙裔患者(p<0.001)和来自墨西哥边境各县的患者(p<0.001)。CDH患者死亡率的预测概率随着治疗设施CDH病例量的增加而降低,每增加一例CDH病例的死亡率下降0.5%(p<0.001)。
    结论:接受HVC治疗的患者尽管严重程度增加,但死亡率明显降低。我们的数据表明,少数群体在LVC中的治疗可能不成比例,结果较差。
    方法:回顾性预后研究。
    方法:二级。
    BACKGROUND: Congenital diaphragmatic hernia (CDH) is a life-threatening, prenatally diagnosed congenital anomaly. We aim to characterize care and outcomes of infants with CDH in Texas and the impact of treating facilities volume of care.
    METHODS: Retrospective cohort study using a state-wide Hospital Inpatient Discharge Public Use Data File was conducted (2013-2021). Neonates and infants <1 year of age were included using CDH ICD-9/ICD-10 codes. Neonates transferred to an outside hospital were excluded to avoid double-counting. Descriptive statistics, chi-square and logistic regression analysis were performed.
    RESULTS: Of 1314 CDH patient encounters identified, 728 (55%) occurred at 5 higher volume centers (HVC, >75 cases), 326 (25%) at 9 mid-volume centers (MVC, 20-75 cases) and 268 (20%) at 79 low volume centers (LVC, <20 cases). HVC had lower mortality rates (18%, MVC 22% vs LVC 27%; p = 0.011) despite treating sicker patients (extreme illness severity: HVC 71%, MVC 62% vs LVC 50%; p < 0.001) with longer length-of-stay (p < 0.001). Extracorporeal membrane oxygenation was used in 136 (10%) and provided primarily at HVC. LVC treated proportionately more non-white Hispanic patients (p < 0.001) and patients from counties along the Mexican border (p < 0.001). The predicted probability of mortality in CDH patients decreases with higher treatment facility CDH case volume, with a 0.5% decrease in the odds of mortality for every additional CDH case treated (p < 0.001).
    CONCLUSIONS: Patients treated in HVC have significantly lower mortality despite increased severity. Our data suggest minority populations may be disproportionately treated at LVC associated with worse outcomes.
    METHODS: Retrospective Prognosis Study.
    METHODS: Level II.
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  • 文章类型: Case Reports
    羊水过多定义为怀孕期间羊水量的增加。本文介绍了一名35岁的G4P3女士在妊娠28周时患有未优化的妊娠糖尿病(GDM)的情况。常规经腹超声显示羊水过多,最初认为是由于血糖控制欠佳。进一步评估显示先天性膈疝有多个软标记。在初级保健环境中,确定羊水过多的根本原因可能具有挑战性,这可以归因于各种因素。虽然初级保健医务人员可能不需要进行详细的扫描,它们在识别胎儿严重异常中起着至关重要的作用。这项研究强调了在初级保健机构中漏诊的可能性以及全面的产前评估的重要性,以确保早期发现和适当管理GDM女性羊水过多相关疾病。
    Polyhydramnios is defined as an increase in the amount of amniotic fluid during pregnancy. This article presents the case of a 35-year-old G4P3 lady at 28 weeks of gestation with suboptimised gestational diabetes Mellitus (GDM). Routine transabdominal ultrasound showed the presence of polyhydramnios, initially thought to be due to suboptimal glucose control. Further evaluation revealed a congenital diaphragmatic hernia with multiple soft markers. Identifying the underlying causes of polyhydramnios can be challenging in primary care settings, which can be attributed to various factors. Although primary care medical officers may not be required to perform detailed scans, they have a crucial role in identifying gross foetal abnormalities. This study highlights the potential for missed diagnoses in primary care settings and the importance of comprehensive prenatal assessments to ensure early detection and appropriate management of polyhydramnios-related conditions in women with GDM.
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  • 文章类型: Case Reports
    背景:拉瑞氏疝(LH)是导致腹部内脏突出到胸腔的出生缺陷。发病率为2-4%,他们是特殊的成年人。
    方法:一名65岁女性患者接受择期腹腔镜胆囊切除术。在病史摄入期间,除了胆绞痛,未报告其他症状.体格检查结果正常。胸部X光没有发现任何异常。术中,检查隔膜发现左侧胸肋三角形有3厘米的缺损,网膜从胸腔突出.行胆囊切除术后,LH的含量谨慎降低。疝囊没有切除,以防止对邻近解剖结构的潜在伤害。使用不可吸收的间断缝线闭合缺损。术后病程顺利。随访期间未发现复发。
    LH诊断由于其非特异性症状而具有挑战性。只有10%的患者无症状。CT成像建立了积极的诊断,并确定了需要紧急处理的急性并发症。
    结论:无症状LH病例需要手术治疗。腹腔镜治疗是安全有效的。经腹方法更容易获得疝气内容物。疝囊切除仍有争议。缺损闭合技术的选择取决于组织的质量和弹性,以及缺陷的大小,所有这些都在无紧张原则的坚定不移的旗帜下。文献在网格使用方面仍然存在冲突。
    BACKGROUND: Larrey hernias (LH) are birth defects causing abdominal viscera to protrude into the thoracic cavity. With an incidence of 2-4 %, they are exceptional in adults.
    METHODS: A 65-year-old female patient was admitted for an elective laparoscopic cholecystectomy. During history intake, besides biliary colic, no additional symptoms were reported. Physical examination yielded normal results. Chest-X ray did not reveal any anomalies. Intraoperatively, an inspection of the diaphragm revealed a 3 cm defect in the left-sided sternocostal triangle, with the omentum protruding through the thorax. After performing cholecystectomy, the content of the LH was cautiously reduced. The hernia sac was not resected, to prevent potential injury to the neighboring anatomical structures. The defect was closed using non-resorbable interrupted sutures. The postoperative course was uneventful. No recurrence was detected during follow-up.
    UNASSIGNED: LH diagnosis is challenging due to its unspecific symptoms. Only 10 % of patients are asymptomatic. CT imaging establishes a positive diagnosis and identifies acute complications requiring emergency management.
    CONCLUSIONS: Asymptomatic LH cases mandate surgery. Laparoscopic management is safe and efficient. The trans-abdominal approach offers easier access to hernia content. Hernia sac resection is still debatable. The selection of defect closure technique hinges on the quality and elasticity of the tissue, as well as the size of the defect, all under the unwavering banner of the tension-free principle. Literature remains conflicting on mesh use.
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  • 文章类型: Journal Article
    To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis.
    We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney (ITEK). After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis.
    The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases.
    Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.
    reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinatal.
    se reporta el caso de un feto de 28 semanas en el que se observó imagen ecográfica sugestiva de masa en hemitórax derecho que desplazaba corazón y pulmón; se confirmó que correspondía a un riñón intratorácico. Por laparoscopia, al recién nacido se le colocó una malla en continuidad con el diafragma dejando el riñón en el abdomen, con buena evolución. Se realizó una búsqueda bibliográfica en PubMed, Embase y Cochrane. Se buscaron cohortes, reportes y series de caso de gestaciones con diagnóstico prenatal de riñón intratorácico fetal. Se extrajo información del diseño, la población, el diagnóstico por imágenes, el tratamiento y el pronóstico.
    en la búsqueda se identificaron 8 estudios que cumplieron con los criterios de inclusión y que informan en total ocho casos. El diagnóstico ecográfico mostró REI asociado a hernia diafragmática en todos los sujetos. Se utilizó también la RM fetal en cinco casos. Seis neonatos sobrevivieron sin complicaciones, en uno hubo interrupción voluntaria del embarazo, y otro presentó sepsis y dificultad respiratoria, finalmente fue dado de alta en buenas condiciones.
    el REI es una anomalía congénita susceptible de diagnóstico prenatal. La sobrevida a la cirugía correctora en el periodo neonatal es frecuente. La literatura disponible en torno al diagnóstico prenatal de REI es escasa y se limita a reportes de casos.
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  • 文章类型: Journal Article
    先天性膈疝(CDH)是由形成膈肌的胸膜腹膜融合不足引起的结构缺陷,允许腹膜内脏伸入胸膜腔.多达30%的CDH新生儿需要体外膜氧合(ECMO)支持。与所有干预措施一样,这些患者必须仔细考虑ECMO的风险和益处.已显示心肺功能在手术CDH修复后恶化而不是改善。即使经过详细的围手术期评估,手术后突发心肺衰竭是危险的,需要及时有效的治疗。
    报告了三例新生儿经CDH手术治疗后出现心肺功能衰竭的病例。这三名患者需要ECMO支持,并成功停药。我们报告我们的治疗经验。
    ECMO对于CDH新生儿术后心肺功能衰竭的治疗是可行的。
    UNASSIGNED: Congenital diaphragmatic hernia (CDH) is a structural defect caused by inadequate fusion of the pleuroperitoneal membrane that forms the diaphragm, allowing peritoneal viscera to protrude into the pleural cavity. Up to 30% of newborns with CDH require extracorporeal membrane oxygenation (ECMO) support. As with all interventions, the risks and benefits of ECMO must be carefully considered in these patients. Cardiopulmonary function has been shown to worsen rather than improve after surgical CDH repair. Even after a detailed perioperative assessment, sudden cardiopulmonary failure after surgery is dangerous and requires timely and effective treatments.
    UNASSIGNED: Three cases of cardiopulmonary failure after surgical CDH treatment in newborns have been reported. ECMO support was needed for these three patients and was successfully discontinued. We report our treatment experience.
    UNASSIGNED: ECMO is feasible for the treatment of postoperative cardiopulmonary failure in newborns with CDH.
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  • 文章类型: Case Reports
    背景:先天性膈疝是一种罕见的发育缺陷。肺部并发症更常见于右侧缺损(Partridge等人。,2016)。肝肺融合是一种罕见且高度致命的畸形,仅见于右侧先天性膈疝,其特征是肝和肺的纤维血管融合。
    方法:一名新生儿男性出现呼吸窘迫,1分钟APGAR评分为7分。胸片显示右半胸部完全混浊,CT扫描证实是先天性膈疝,肝脏的胸腔内位置和继发性肺发育不全。48小时后,术中发现膈肌融合,肺和肝组织。四个月后,融合肝段VII/VIII下叶的完整组织分裂,并矫正了疝缺损。患者在6个月后出院。
    结论:组织部分分割被描述为最安全和最成功的肝肺融合方法。直到2020年,全球报告的所有病例都显示出更高的生存率,并且组织完全分裂(FergusonDM;先天性膈疝研究组,2020)报告病例倾向于一次性手术干预。两阶段手术方法允许最初的低手术创伤,以控制疝内容物对胸内结构的压迫作用,并在非危重患者中第二次进行组织分裂,在这种情况下导致长期生存。
    结论:肝肺融合是一种罕见且高度致命的畸形,可获得的信息很少。未来的多中心研究应该比较不同的治疗选择,并寻找结果,包括但不限于死亡率。
    BACKGROUND: Congenital diaphragmatic hernias are a rare developmental defect. Pulmonary complications are more frequently seen in right sided defects (Partridge et al., 2016). Hepatopulmonary fusion is a rare and highly mortal malformation exclusively seen in right sided congenital diaphragmatic hernias marked by the fibrovascular fusion of the liver and lung.
    METHODS: A newborn male presented with respiratory distress and a 1-minute APGAR score of 7. A chest radiograph showed complete opacification of the right hemithorax, and a CT-Scan confirmed a congenital diaphragmatic hernia, an intrathoracic location of the liver and secondary pulmonary hypoplasia. 48 h after, intraoperative findings showed fusion of diaphragm, lung and liver tissue. Four months after, complete tissue division of the lower lobe from the fused liver segments VII/VIII and correction of the hernia defect was achieved. The patient was discharged from the hospital six months after.
    CONCLUSIONS: Partial division of tissues is described as the safest and most successful approach to hepatopulmonary fusion. The tally of all cases reported worldwide until 2020 shows higher survival rates with complete division of tissues (Ferguson DM; Congenital Diaphragmatic Hernia Study Group, 2020) Reported cases lean towards one-session surgical interventions. A two-stage surgical approach allows an initial low surgical trauma to manage compressive effects on intrathoracic structures by herniary contents and a second time for tissue division in a non-critical patient, in this case leading to long-term survival.
    CONCLUSIONS: Hepatopulmonary fusion is a rare and highly lethal malformation with scarce information available. Future multicenter studies should compare different therapeutic options and search for outcomes including but not limited to mortality.
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  • 文章类型: Journal Article
    背景:先天性膈疝(CDH)与高死亡率和显著的肺部发病率相关。这项研究的目的是描述CDH患者尸检中观察到的组织病理学特征,并将其与临床表现相关联。
    方法:我们回顾性回顾了2017年至2022年7月8例CDH患者的死后发现和相应的临床特征。
    结果:中位生存时间为46(8-624)小时。尸检报告显示,弥漫性肺泡损伤(充血和出血)和透明膜形成是观察到的主要病理性肺改变。值得注意的是,尽管肺体积显著减少,50%的病例肺发育正常,3例(37.5%)存在分叶状畸形。所有患者均表现为大动脉导管未闭(PDA)和卵圆孔未闭,导致右心室(RV)体积增加,心肌纤维出现轻微充血和肿胀。肺血管显示动脉中膜和外膜增厚。肺发育不全和弥漫性肺损伤导致气体交换受损,而PDA和肺动脉高压导致RV衰竭,随后的器官功能障碍和最终死亡。
    结论:CDH患者通常会死于心肺衰竭,由病理生理因素的复杂相互作用驱动的状况。这种复杂性解释了对当前可用的血管扩张剂和通气疗法的不可预测的反应。
    Congenital diaphragmatic hernia (CDH) is associated with high mortality rates and significant pulmonary morbidities. The objective of this study was to delineate the histopathological features observed in necropsies of CDH patients and correlate these with their clinical manifestations.
    We retrospectively reviewed the postmortem findings and corresponding clinical characteristics in eight CDH cases from 2017 to July 2022.
    The median survival time was 46 (8-624) hours. Autopsy reports showed that diffuse alveolar damage (congestion and hemorrhage) and hyaline membrane formation were the primary pathological lung changes observed. Notably, despite significant reduction in lung volume, the lung development appeared normal in 50% of the cases, while lobulated deformities were present in three (37.5%) cases. All patients displayed a large patent ductus arteriosus (PDA) and a patent foramen ovale, resulting in increased right ventricle (RV) volume, and myocardial fibers appeared slightly congested and swollen. The pulmonary vessels indicated thickening of the arterial media and adventitia. Lung hypoplasia and diffuse lung damage resulted in impaired gas exchange, while PDA and pulmonary hypertension led to RV failure, subsequent organ dysfunction and ultimately death.
    Patients with CDH typically succumb to cardiopulmonary failure, a condition driven by a complex interplay of pathophysiological factors. This complexity accounts for the unpredictable response to currently available vasodilators and ventilation therapies.
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