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1.
Pediatr Surg Int ; 40(1): 171, 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38958763

RESUMO

PURPOSE: Split abdominal wall muscle flap (SAWMF) is a technique to repair large defects in congenital diaphragmatic hernia (CDH). A possible objection to this intervention could be any associated abdominal muscle weakness. Our aim is to analyze the evolution of this abdominal muscle wall weakness. METHODS: Retrospective review of CDH repair by SAWMF (internal oblique muscle and transverse) from 2004 to 2023 focusing on the evolution of muscle wall weakness. RESULTS: Eighteen neonates of 148 CDH patients (12,1%) were repaired using SAWMF. Mean gestational age and birth weight were 35.7 ± 3.5 weeks and 2587 ± 816 g. Mean lung-to-head ratio was 1.49 ± 0.28 and 78% liver-up. Seven patients (38%) were prenatally treated by tracheal occlusion. Ninety-four percent of the flaps were used for primary repair and one to repair a recurrence. One patient (5.6%) experienced recurrence. Abdominal muscle wall weakness was present in the form of a bulge. Resolution of weakness at 1, 2 and 3 years was 67%, 89% and 94%, respectively. No patient required treatment for weakness or died. CONCLUSIONS: Abdominal muscular weakness after a split abdominal wall muscle flap repair is not a limitation for its realization since it is asymptomatic and presents a prompt spontaneous resolution. LEVEL OF EVIDENCE: IV.


Assuntos
Músculos Abdominais , Parede Abdominal , Hérnias Diafragmáticas Congênitas , Debilidade Muscular , Retalhos Cirúrgicos , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/complicações , Recém-Nascido , Estudos Retrospectivos , Masculino , Feminino , Parede Abdominal/cirurgia , Debilidade Muscular/etiologia , Debilidade Muscular/cirurgia , Músculos Abdominais/cirurgia , Herniorrafia/métodos , Complicações Pós-Operatórias/cirurgia , Resultado do Tratamento
2.
Pediatr Surg Int ; 40(1): 182, 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38980431

RESUMO

PURPOSE: Previous studies have shown a higher recurrence rate and longer operative times for thoracoscopic repair (TR) of congenital diaphragmatic hernia (CDH) compared to open repair (OR). An updated meta-analysis was conducted to re-evaluate the surgical outcomes of TR. METHODS: A comprehensive literature search comparing TR and OR in neonates was performed in accordance with the PRISMA statement (PROSPERO: CRD42020166588). RESULTS: Fourteen studies were selected for quantitative analysis, including a total of 709 patients (TR: 308 cases, OR: 401 cases). The recurrence rate was higher [Odds ratio: 4.03, 95% CI (2.21, 7.36), p < 0.001] and operative times (minutes) were longer [Mean Difference (MD): 43.96, 95% CI (24.70, 63.22), p < 0.001] for TR compared to OR. A significant reduction in the occurrence of postoperative bowel obstruction was observed in TR (5.0%) compared to OR (14.8%) [Odds ratio: 0.42, 95% CI (0.20, 0.89), p = 0.02]. CONCLUSIONS: TR remains associated with higher recurrence rates and longer operative times. However, the reduced risk of postoperative bowel obstruction suggests potential long-term benefits. This study emphasizes the importance of meticulous patient selection for TR to mitigate detrimental effects on patients with severe disease.


Assuntos
Hérnias Diafragmáticas Congênitas , Herniorrafia , Toracoscopia , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Toracoscopia/métodos , Herniorrafia/métodos , Recém-Nascido , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Resultado do Tratamento , Recidiva
3.
An Pediatr (Engl Ed) ; 101(1): 29-35, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38971707

RESUMO

INTRODUCTION: Congenital diaphragmatic hernia (CDH) remains a therapeutic challenge. The surgical classification recommended by the Congenital Diaphragmatic Hernia study group (CDHSG), based on the size of the defect, is used for staging in reference centres. Larger defects are associated with poorer outcomes. Our aim was to describe and compare the morbidity at hospital discharge of newborns who underwent surgical correction of CDH at the Juan P. Garrahan, according to the surgical staging of the defect proposed by the CDHSG. MATERIAL AND METHODS: The study included patients with CDH admitted to the Juan P. Garrahan Hospital between 2012 and 2020, and we analysed the distribution, morbidity and mortality associated with the size of the defect. We carried out a descriptive analysis, calculating measures of central tendency and dispersion, and bivariate and multivariate analyses. RESULTS: A total of 230 patients with CDH were admitted and 158 underwent surgery. We found that defect sizes C and D sizes were associated with an increased risk of chronic pulmonary disease (CPD) (OR, 5.3; 95% CI, 2.2-13.4; P<.0000), need of extracorporeal membrane oxygenation (OR 3.9; 95% CI, 1.3-12.8; P<.005) and chylothorax (OR, 2.1; 95% CI, 0.8-6.4; P<.10]. The multivariate analysis revealed that a large defect size (C-D) was independently and significantly associated with CPD (OR 4.19; 95% CI, 1.76-9.95). CONCLUSION: Staging the defect according to de CDHSG classification during surgery allows the application of uniform management criteria and the prediction of patient outcomes and complications during the hospital stay.


Assuntos
Hérnias Diafragmáticas Congênitas , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Recém-Nascido , Masculino , Feminino , Estudos Retrospectivos , Resultado do Tratamento , Oxigenação por Membrana Extracorpórea
4.
Pediatr Surg Int ; 40(1): 166, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38954216

RESUMO

PURPOSE: To report our experience with laparoscopic repair of anterior congenital diaphragmatic hernia (CDH) using extracorporeal subcutaneous knot tying and to define recurrence risk factors. METHODS: This retrospective unicentric study included children who underwent laparoscopic repair of anterior CDH without patch, using extracorporeal knot tying of sutures passed through the full thickness of the abdominal wall (2013-2020). A systematic review of the literature with meta-analysis was performed using the MEDLINE database since 2000. RESULTS: Eight children were included (12 months [1-183]; 10.6 kg [3.6-65]). Among the two patients with Down syndrome, one with previous cardiac surgery had a recurrence at 17 months postoperatively. In our systematic review (26 articles), among the 156 patients included, 10 had a recurrence (none with patch). Recurrence was statistically more frequent in patients with Down syndrome (19.4%) than without (2.5%) (p < 0.0001), and when absorbable sutures were used (50%) instead of non-absorbable sutures (5.3%) (p < 0.0001). CONCLUSION: Laparoscopic repair of anterior CDH without patch was a safe and efficient surgical approach in our patients. The use of a non-absorbable prosthetic patch should be specifically discussed in anterior CDH associated with Down syndrome and/or in case of previous cardiac surgery to perform a diaphragmatic tension-free closure.


Assuntos
Hérnias Diafragmáticas Congênitas , Herniorrafia , Laparoscopia , Recidiva , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/complicações , Laparoscopia/métodos , Estudos Retrospectivos , Lactente , Herniorrafia/métodos , Masculino , Feminino , Pré-Escolar , Criança , Técnicas de Sutura , Recém-Nascido , Adolescente , Síndrome de Down/complicações , Fatores de Risco
5.
Rozhl Chir ; 103(3): 100-103, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38886105

RESUMO

This paper presents the case of a 32-year-old female patient with acute colon incarceration in the thoracic cavity due to Bochdalek hernia. An asymptomatic right Bochdalek hernia was also discovered, which is a rare finding. The patient underwent laparotomy with reposition of the incarcerated organs and primary closure of the left-sided defect. The stenotic portion of the originally incarcerated colon was resected one year later due to the symptoms of chronic bowel problems. At present, 18 months from the first surgery, the patient's clinical condition remains good with a positive clinical response to the secondary surgery involving resection of the stenotic colon, and the right Bochdalek hernia remains asymptomatic.


Assuntos
Doenças do Colo , Humanos , Feminino , Adulto , Doenças do Colo/cirurgia , Doenças do Colo/diagnóstico por imagem , Hérnia Diafragmática/cirurgia , Hérnia Diafragmática/diagnóstico por imagem , Obstrução Intestinal/cirurgia , Obstrução Intestinal/etiologia , Obstrução Intestinal/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/complicações , Encarceramento
6.
BMC Surg ; 24(1): 198, 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38937726

RESUMO

OBJECTIVES: Although many prognostic factors in neonates with congenital diaphragmatic hernia (CDH) have been described, no consensus thus far has been reached on which and how many factors are involved. The aim of this study is to analyze the association of multiple prenatal and postnatal factors with 1-month mortality of neonates with CDH and to construct a nomogram prediction model based on significant factors. METHODS: A retrospective analysis of neonates with CDH at our center from 2013 to 2022 was conducted. The primary outcome was 1-month mortality. All study variables were obtained either prenatally or on the first day of life. Risk for 1-month mortality of CDH was quantified by odds ratio (OR) with 95% confidence interval (CI) in multivariable logistic regression models. RESULTS: After graded multivariable adjustment, six factors were found to be independently and consistently associated with the significant risk of 1-month mortality in neonates with CDH, including gestational age of prenatal diagnosis (OR, 95% CI, P value: 0.845, 0.772 to 0.925, < 0.001), observed-to-expected lung-to-head ratio (0.907, 0.873 to 0.943, < 0.001), liver herniation (3.226, 1.361 to 7.648, 0.008), severity of pulmonary hypertension (6.170, 2.678 to 14.217, < 0.001), diameter of defect (1.560, 1.084 to 2.245, 0.017), and oxygen index (6.298, 3.383 to 11.724, < 0.001). Based on six significant factors identified, a nomogram model was constructed to predict the risk for 1-month mortality in neonates with CDH, and this model had decent prediction accuracy as reflected by the C-index of 94.42%. CONCLUSIONS: Our findings provide evidence for the association of six preoperational and intraoperative factors with the risk of 1-month mortality in neonates with CDH, and this association was reinforced in a nomogram model.


Assuntos
Hérnias Diafragmáticas Congênitas , Nomogramas , Humanos , Hérnias Diafragmáticas Congênitas/mortalidade , Recém-Nascido , Estudos Retrospectivos , Feminino , Masculino , Prognóstico , Idade Gestacional , Mortalidade Infantil/tendências , Fatores de Risco , Medição de Risco/métodos
7.
Sci Rep ; 14(1): 13680, 2024 06 13.
Artigo em Inglês | MEDLINE | ID: mdl-38871804

RESUMO

Congenital diaphragmatic hernia (CDH) is a birth defect characterized by incomplete closure of the diaphragm, herniation of abdominal organs into the chest, and compression of the lungs and the heart. Besides complications related to pulmonary hypoplasia, 1 in 4 survivors develop neurodevelopmental impairment, whose etiology remains unclear. Using a fetal rat model of CDH, we demonstrated that the compression exerted by herniated organs on the mediastinal structures results in decreased brain perfusion on ultrafast ultrasound, cerebral hypoxia with compensatory angiogenesis, mature neuron and oligodendrocyte loss, and activated microglia. In CDH fetuses, apoptosis was prominent in the subventricular and subgranular zones, areas that are key for neurogenesis. We validated these findings in the autopsy samples of four human fetuses with CDH compared to age- and sex-matched controls. This study reveals the molecular mechanisms and cellular changes that occur in the brain of fetuses with CDH and creates opportunities for therapeutic targets.


Assuntos
Encéfalo , Hérnias Diafragmáticas Congênitas , Neurônios , Oligodendroglia , Animais , Hérnias Diafragmáticas Congênitas/patologia , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Neurônios/patologia , Neurônios/metabolismo , Oligodendroglia/patologia , Oligodendroglia/metabolismo , Ratos , Humanos , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/embriologia , Feminino , Células-Tronco/patologia , Feto/patologia , Modelos Animais de Doenças , Gravidez , Masculino
8.
Lancet Child Adolesc Health ; 8(8): 580-588, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38914091

RESUMO

BACKGROUND: Temporary fetoscopic endoluminal tracheal occlusion (FETO) promotes lung growth and increases survival in selected fetuses with congenital diaphragmatic hernia (CDH). FETO is performed percutaneously by inserting into the trachea a balloon designed for vascular occlusion. However, reports on the potential postnatal side-effects of the balloon are scarce. This study aimed to evaluate the prevalence of tracheomalacia in infants with CDH managed with and without FETO and other consequences related to the use of the balloon. METHODS: In this multicentre, retrospective cohort study, we included infants who were live born with CDH, either with FETO or without, who were managed postnatally at four centres (UZ Leuven, Leuven, Belgium; Antoine Béclère, Clamart, France; BCNatal, Barcelona, Spain; and HCor-Heart Hospital, São Paulo, Brazil) between April 5, 2002, and June 2, 2021. We primarily assessed the prevalence of all (symptomatic and asymptomatic) tracheomalacia as reported in medical records among infants with and without FETO. Secondarily we assessed the prevalence of symptomatic tracheomalacia and its resolution as reported in medical records, and compared tracheal diameters as measured on postnatal x-rays. Crude and adjusted risk ratios (aRRs) and 95% CIs were calculated via modified Poisson regression models with robust error variances for potential association between FETO and tracheomalacia. Variables included in the adjusted model were the side of the hernia, observed-to-expected lung-to-head ratio, and gestational age at birth. Crude and adjusted mean differences and 95% CIs were calculated via linear regression models to assess the presence and magnitude of association between FETO and tracheal diameters. In infants who had undergone FETO we also assessed the localisation of balloon remnants on x-rays, and the methods used for reversal of occlusion and potential complications associated with balloon remnants as documented in clinical records. Finally we investigated whether the presence of balloon remnants was influenced by the interval between balloon removal and delivery. FINDINGS: 505 neonates were included in the study, of whom 287 had undergone FETO and 218 had not. Tracheomalacia was reported in 18 (6%) infants who had undergone FETO and in three (1%) who had not (aRR 6·17 [95% CI 1·83-20·75]; p=0·0030). Tracheomalacia was first reported in the FETO group at a median of 5·0 months (IQR 0·8-13·0). Symptomatic tracheomalacia was reported in 13 (5%) infants who had undergone FETO, which resolved in ten (77%) children by 55·0 months (IQR 14·0-83·0). On average, infants who had undergone FETO had a 31·3% wider trachea (with FETO tracheal diameter 7·43 mm [SD 1·24], without FETO tracheal diameter 5·10 mm [SD 0·84]; crude mean difference 2·32 [95% CI 2·11-2·54]; p<0·0001; adjusted mean difference 2·62 [95% CI 2·35-2·89]; p<0·0001). At birth, the metallic component was visible within the body in 75 (37%) of 205 infants with available thoraco-abdominal x-rays: it was located in the gastrointestinal tract in 60 (80%) and in the lung in 15 (20%). No side-effects were reported for any of the infants during follow-up. The metallic component was more likely to be in the lung than either outside the body or the gastrointestinal tract when the interval between occlusion reversal and birth was less than 24 h. INTERPRETATION: Although FETO was associated with an increased tracheal diameter and an increased probability of tracheomalacia, symptomatic tracheomalacia typically resolved over time. There is a higher risk of retention of metallic balloon components if reversal of the occlusion occurs less than 24 h before delivery. Finally, there were no reported side-effects of the metallic component of the balloon persisting in the body during follow-up. Longer-term follow-up is needed to ensure that no tracheal problems arise later in life. FUNDING: None.


Assuntos
Fetoscopia , Hérnias Diafragmáticas Congênitas , Traqueia , Traqueomalácia , Humanos , Estudos Retrospectivos , Fetoscopia/efeitos adversos , Fetoscopia/métodos , Hérnias Diafragmáticas Congênitas/cirurgia , Feminino , Traqueomalácia/epidemiologia , Masculino , Recém-Nascido , Lactente , Oclusão com Balão/efeitos adversos , Oclusão com Balão/métodos , Prevalência
9.
BMJ Case Rep ; 17(6)2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38926130

RESUMO

Congenital diaphragmatic hernia (CDH) is a congenital anomaly involving the herniation of intra-abdominal contents into the thoracic cavity. Hepatopulmonary fusion (HPF), an exceedingly rare subtype mainly associated with right-sided CDH, presents unique diagnostic and therapeutic challenges. This case report describes a male infant with right-sided CDH complicated by HPF. The intricate anatomical anomaly involved the fusion of the right lung to the liver, posing challenges during surgical separation. The patient experienced postoperative complications, including prolonged ventilation, tracheostomy and pulmonary issues, which led to a prolonged hospital stay. Intraoperative challenges stem from the absence of demarcation between lung and liver tissues and abnormal vascular structures. In summary, managing HPF in right-sided CDH necessitates a customised, multidisciplinary approach to optimise patient outcomes, highlighting the need for ongoing research to refine understanding and treatment strategies.


Assuntos
Hérnias Diafragmáticas Congênitas , Fígado , Pulmão , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Masculino , Fígado/diagnóstico por imagem , Fígado/anormalidades , Recém-Nascido , Pulmão/anormalidades , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Complicações Pós-Operatórias
10.
BMJ Case Rep ; 17(6)2024 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-38908835

RESUMO

A woman in her 60s presented to the emergency department with excruciating, deep left shoulder pain and was found to have a right-sided Morgagni hernia, a rare type of congenital diaphragmatic hernia (CDH). She did not have chest pain, palpitations, shortness of breath, cough, abdominal pain, constipation, diarrhoea, nausea, vomiting or other symptoms classically associated with CDHs in adults. Laparoscopic robotic-assisted repair with mesh placement was performed, and the patient's recovery was uncomplicated, with no recurrence of shoulder pain. Our patient's presentation was unusual due to the absence of symptoms typically seen with CDHs in adults, and the presence of contralateral, left-sided shoulder pain with a right-sided Morgagni hernia.


Assuntos
Hérnias Diafragmáticas Congênitas , Dor de Ombro , Humanos , Feminino , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/diagnóstico , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Dor de Ombro/etiologia , Pessoa de Meia-Idade , Laparoscopia/métodos , Herniorrafia/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Tomografia Computadorizada por Raios X , Telas Cirúrgicas , Diagnóstico Diferencial
11.
Prenat Diagn ; 44(8): 988-995, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38797992

RESUMO

OBJECTIVE: We aim to provide a template structured report of fetal Magnetic Resonance Imaging in congenital diaphragmatic hernia (CDH) that was locally validated by the CDH study group in Mannheim. METHODS: A selection of 50 fetal MRIs of patients with an isolated diaphragmatic hernia and associated radiology reports from five different senior radiologists from a single center resulted in a primary structured report, which was put into practice by using dedicated software. A questionnaire survey of the interdisciplinary CDH study group Mannheim was used to adapt the report to the clinical requirements. RESULTS: There was a huge variability in how deep the free text reports go into detail. The side of the hernia was named in 94% of cases. In 58%, both the lung volume and the total lung volume were reported. A comparison with the expected lung volume was reported in 66% of cases. Additional findings, such as herniated organs, were reported in 96% of cases. Overall satisfaction with the newly established structured report was high within the CDH study group with a mean of 4.7. CONCLUSIONS: The use of the structured report of this study can optimize the interdisciplinary dialog, the standardization of report content, increase report completeness and improve quality.


Assuntos
Hérnias Diafragmáticas Congênitas , Imageamento por Ressonância Magnética , Humanos , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Feminino , Gravidez , Diagnóstico Pré-Natal/métodos , Inquéritos e Questionários
12.
Ital J Pediatr ; 50(1): 94, 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38715046

RESUMO

BACKGROUND: congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia. CASE PRESENTATION: We describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events. CONCLUSION: Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.


Assuntos
Fibrilina-1 , Hérnias Diafragmáticas Congênitas , Síndrome de Marfan , Humanos , Adipocinas , Fibrilina-1/genética , Seguimentos , Hérnias Diafragmáticas Congênitas/complicações , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Criança
13.
J Surg Res ; 299: 172-178, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38759333

RESUMO

INTRODUCTION: The number of patients with congenital disease living to adulthood continues to grow. Often undergoing surgical correction in infancy, they continue to require lifelong care. Their numbers are largely unknown. We sought to evaluate hospital admissions of adult patients with esophageal atresia with tracheoesophageal fistula (EA/TEF), congenital diaphragmatic hernia (CDH), and Hirschsprung disease (HD). METHODS: The Florida Agency for Healthcare Administration inpatient database was merged with the Distressed Communities Index and Centers for Medicare and Medicaid Services Hospital and Physician Compare datasets. The dataset was queried for adult patients (≥18 y, born after 1970) with EA/TEF, CDH, and HD in their problem list from 2010 to 2020. Patient demographics, hospitalization characteristics, and discharge information were obtained. RESULTS: In total, 1140 admissions were identified (266 EA/TEF, 135 CDH, 739 HD). Patients were mostly female (53%), had a mean age of 31.6 y, and often admitted to an adult internist in a general hospital under emergency. Principal diagnoses and procedures (when performed) varied with diagnosis and age at admission. EA patients were admitted with dysphagia and foregut symptoms and often underwent upper endoscopy with dilation. CDH patients were often admitted for diaphragmatic hernias and underwent adult diaphragm repair. Hirschsprung patients were often admitted for intestinal obstructive issues and frequently underwent colonoscopy but trended toward operative intervention with increasing age. CONCLUSIONS: Adults with congenital disease continue to require hospital admission and invasive procedures. As age increases, diagnoses and performed procedures for each diagnoses evolve. These data could guide the formulation of multispecialty disease-specific follow-up programs for these patients.


Assuntos
Atresia Esofágica , Hérnias Diafragmáticas Congênitas , Doença de Hirschsprung , Humanos , Feminino , Masculino , Adulto , Doença de Hirschsprung/cirurgia , Doença de Hirschsprung/epidemiologia , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/epidemiologia , Florida/epidemiologia , Atresia Esofágica/cirurgia , Adulto Jovem , Fístula Traqueoesofágica/cirurgia , Fístula Traqueoesofágica/epidemiologia , Pessoa de Meia-Idade , Sobreviventes/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Adolescente , Estudos Retrospectivos , Lactente , Bases de Dados Factuais/estatística & dados numéricos
14.
Thorac Surg Clin ; 34(2): 155-162, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38705663

RESUMO

Bochdalek hernias are a rare occurrence in adults and usually asymptomatic, resulting in incidental discovery. However, surgical intervention is recommended for both symptomatic and asymptomatic Bochdalek hernias due to the risk of acute morbidity and mortality. There are various possible surgical approaches that may be appropriate depending on the circumstance, with robotic repair becoming increasingly popular. To date, the rarity of the condition has limited the available data on postoperative outcomes.


Assuntos
Hérnias Diafragmáticas Congênitas , Herniorrafia , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/complicações , Adulto , Herniorrafia/métodos
15.
Arch Gynecol Obstet ; 310(2): 873-881, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38782762

RESUMO

PURPOSE: To evaluate the impact of the timing of MRI on the prediction of survival and morbidity in patients with CDH, and whether serial measurements have a beneficial value. METHODS: This retrospective cohort study was conducted in two perinatal centers, in Germany and Italy. It included 354 patients with isolated CDH having at least one fetal MRI. The severity was assessed with the observed-to-expected total fetal lung volume (o/e TFLV) measured by two experienced double-blinded operators. The cohort was divided into three groups according to the gestational age (GA) at which the MRI was performed (< 27, 27-32, and > 32 weeks' gestation [WG]). The accuracy for the prediction of survival at discharge and morbidity was analyzed with receiver operating characteristic (ROC) curves. Multiple logistic regression analyses and propensity score matching examined the population for balance. The effect of repeated MRI was evaluated in ninety-seven cases. RESULTS: There were no significant differences in the prediction of survival when the o/e TFLV was measured before 27, between 27 and 32, and after 32 WG (area under the curve [AUC]: 0.77, 0.79, and 0.77, respectively). After adjustment for confounding factors, it was seen, that GA at MRI was not associated with survival at discharge, but the risk of mortality was higher with an intrathoracic liver position (adjusted odds ratio [aOR]: 0.30, 95% confidence interval [95%CI] 0.12-0.78), lower GA at birth (aOR 1.48, 95%CI 1.24-1.78) and lower o/e TFLV (aOR 1.13, 95%CI 1.06-1.20). ROC curves showed comparable prediction accuracy for the different timepoints in pregnancy for pulmonary hypertension, the need of extracorporeal membrane oxygenation, and feeding aids. Serial measurements revealed no difference in change rate of the o/e TFLV according to survival. CONCLUSION: The timing of MRI does not affect the prediction of survival rate or morbidity as the o/e TFLV does not change during pregnancy. Clinicians could choose any gestational age starting mid second trimester for the assessment of severity and counseling.


Assuntos
Idade Gestacional , Hérnias Diafragmáticas Congênitas , Imageamento por Ressonância Magnética , Humanos , Feminino , Gravidez , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/mortalidade , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Curva ROC , Valor Preditivo dos Testes , Adulto , Fatores de Tempo , Medidas de Volume Pulmonar
16.
Thorac Surg Clin ; 34(2): 133-145, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38705661

RESUMO

Congenital diaphragmatic hernia (CDH) is a complex and highly variable disease process that should be treated at institutions with multidisciplinary teams designed for their care. Treatment in the neonatal period focuses on pulmonary hypoplasia, pulmonary hypertension, and cardiac dysfunction. Extracorporeal membrane oxygenation (ECMO) can be considered in patients refractory to medical management. Repair of CDH early during the ECMO course seems to improve mortality compared with other times for surgical intervention. The choice of surgical approach to CDH repair should consider the patient's physiologic status and the surgeon's familiarity with the operative approaches available, recognizing the pros/cons of each technique.


Assuntos
Oxigenação por Membrana Extracorpórea , Hérnias Diafragmáticas Congênitas , Humanos , Lactente , Recém-Nascido , Oxigenação por Membrana Extracorpórea/métodos , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/terapia , Herniorrafia/métodos
17.
Thorac Surg Clin ; 34(2): 147-154, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38705662

RESUMO

Morgagni hernias may range from asymptomatic incidental findings to surgical emergencies. An abdominal approach is ideal in the majority of cases, although surgeons should understand alternatives for repair.


Assuntos
Hérnias Diafragmáticas Congênitas , Humanos , Hérnias Diafragmáticas Congênitas/cirurgia , Hérnias Diafragmáticas Congênitas/complicações , Adulto , Herniorrafia/métodos , Tomografia Computadorizada por Raios X
18.
Proc Natl Acad Sci U S A ; 121(22): e2318859121, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38771880

RESUMO

Megalin (low-density lipoprotein receptor-related protein 2) is a giant glycoprotein of about 600 kDa, mediating the endocytosis of more than 60 ligands, including those of proteins, peptides, and drug compounds [S. Goto, M. Hosojima, H. Kabasawa, A. Saito, Int. J. Biochem. Cell Biol. 157, 106393 (2023)]. It is expressed predominantly in renal proximal tubule epithelial cells, as well as in the brain, lungs, eyes, inner ear, thyroid gland, and placenta. Megalin is also known to mediate the endocytosis of toxic compounds, particularly those that cause renal and hearing disorders [Y. Hori et al., J. Am. Soc. Nephrol. 28, 1783-1791 (2017)]. Genetic megalin deficiency causes Donnai-Barrow syndrome/facio-oculo-acoustico-renal syndrome in humans. However, it is not known how megalin interacts with such a wide variety of ligands and plays pathological roles in various organs. In this study, we elucidated the dimeric architecture of megalin, purified from rat kidneys, using cryoelectron microscopy. The maps revealed the densities of endogenous ligands bound to various regions throughout the dimer, elucidating the multiligand receptor nature of megalin. We also determined the structure of megalin in complex with receptor-associated protein, a molecular chaperone for megalin. The results will facilitate further studies on the pathophysiology of megalin-dependent multiligand endocytic pathways in multiple organs and will also be useful for the development of megalin-targeted drugs for renal and hearing disorders, Alzheimer's disease [B. V. Zlokovic et al., Proc. Natl. Acad. Sci. U.S.A. 93, 4229-4234 (1996)], and other illnesses.


Assuntos
Microscopia Crioeletrônica , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/metabolismo , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Animais , Humanos , Ratos , Ligantes , Endocitose , Agenesia do Corpo Caloso/metabolismo , Agenesia do Corpo Caloso/genética , Erros Inatos do Transporte Tubular Renal , Miopia , Hérnias Diafragmáticas Congênitas , Proteinúria , Perda Auditiva Neurossensorial
19.
BMC Pediatr ; 24(1): 348, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769486

RESUMO

BACKGROUND: Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by surgery in time, the mortality rate can range from 30 to 50%. Clinical presentations of acute gastric volvulus are atypical and often mimic other abdominal conditions such as gastritis, gastroesophageal reflux, gastric dilation, and pancreatitis. Imaging studies are crucial for diagnosis, with barium meal fluoroscopy being the primary modality for diagnosing gastric volvulus. Cases of acute gastric volvulus diagnosed by ultrasound are rarely reported. CASE PRESENTATION: We reported a rare case of acute gastric volvulus in a 4-year-old Chinese girl who presented with vomiting and abdominal pain. Ultrasound examination revealed the "whirlpool sign" in the cardia region, raising suspicion of gastric volvulus. Diagnosis was confirmed by X-ray barium meal fluoroscopy, which indicated left-sided diaphragmatic hernia and obstruction at the cardia region. Surgical intervention confirmed our suspicion of acute complete gastric volvulus combined with diaphragmatic hernia. CONCLUSION: In this case, we reported an instance of acute complete gastric volvulus. Ultrasound revealed a "whirlpool sign" in the cardia, which is likely to be a key sign for the diagnosis of complete gastric volvulus.


Assuntos
Hérnias Diafragmáticas Congênitas , Volvo Gástrico , Humanos , Volvo Gástrico/complicações , Volvo Gástrico/diagnóstico por imagem , Volvo Gástrico/cirurgia , Volvo Gástrico/diagnóstico , Feminino , Pré-Escolar , Doença Aguda , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Ultrassonografia , Fluoroscopia
20.
Radiographics ; 44(6): e230110, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38781091

RESUMO

Acute diaphragmatic abnormalities encompass a broad variety of relatively uncommon and underdiagnosed pathologic conditions, which can be subdivided into nontraumatic and traumatic entities. Nontraumatic abnormalities range from congenital hernia to spontaneous rupture, endometriosis-related disease, infection, paralysis, eventration, and thoracoabdominal fistula. Traumatic abnormalities comprise both blunt and penetrating injuries. Given the role of the diaphragm as the primary inspiratory muscle and the boundary dividing the thoracic and abdominal cavities, compromise to its integrity can yield devastating consequences. Yet, diagnosis can prove challenging, as symptoms may be vague and findings subtle. Imaging plays an essential role in investigation. Radiography is commonly used in emergency evaluation of a patient with a suspected thoracoabdominal process and may reveal evidence of diaphragmatic compromise, such as abdominal contents herniated into the thoracic cavity. CT is often superior, in particular when evaluating a trauma patient, as it allows rapid and more detailed evaluation and localization of pathologic conditions. Additional modalities including US, MRI, and scintigraphy may be required, depending on the clinical context. Developing a strong understanding of the acute pathologic conditions affecting the diaphragm and their characteristic imaging findings aids in efficient and accurate diagnosis. Additionally, understanding the appearance of diaphragmatic anatomy at imaging helps in differentiating acute pathologic conditions from normal variations. Ultimately, this knowledge guides management, which depends on the underlying cause, location, and severity of the abnormality, as well as patient factors. ©RSNA, 2024 Supplemental material is available for this article.


Assuntos
Diafragma , Humanos , Diafragma/diagnóstico por imagem , Diafragma/lesões , Diagnóstico Diferencial , Doença Aguda , Feminino , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem
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