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Journal of Clinical Medicine Jun 2024We aimed to conduct a systematic review and meta-analysis to evaluate the fetoscopic tracheal occlusion in patients with isolated severe and left-sided diaphragmatic... (Review)
Review
We aimed to conduct a systematic review and meta-analysis to evaluate the fetoscopic tracheal occlusion in patients with isolated severe and left-sided diaphragmatic hernia. Cochrane Library, Embase, and PubMed (Medline) databases were searched from inception to February 2024 with no filters or language restrictions. We included studies evaluating the outcomes of fetoscopic intervention compared to expectant management among patients with severe congenital diaphragmatic hernia exclusively on the left side. A random-effects pairwise meta-analysis was performed using RStudio version 4.3.1. In this study, we included 540 patients from three randomized trials and five cohorts. We found an increased likelihood of neonatal survival associated with fetoscopic tracheal occlusion (Odds Ratio, 5.07; 95% Confidence Intervals, 1.91 to 13.44; < 0.01) across general and subgroup analyses. Nevertheless, there were higher rates of preterm birth (OR, 5.62; 95% CI, 3.47-9.11; < 0.01) and preterm premature rupture of membranes (OR, 7.13; 95% CI, 3.76-13.54; < 0.01) in fetal endoscopic tracheal occlusion group compared to the expectant management. Our systematic review and meta-analysis demonstrated the benefit of fetoscopic tracheal occlusion in improving neonatal and six-month postnatal survival in fetuses with severe left-sided CDH. Further studies are still necessary to evaluate the efficacy of tracheal occlusion for isolated right-sided CDH, as well as the optimal timing to perform the intervention.
PubMed: 38930102
DOI: 10.3390/jcm13123572 -
Journal of Clinical Medicine Jun 2024: Congenital diaphragmatic hernia (CDH) is defined as organ protrusion from the abdominal to the thoracic cavity. The Hadlock formula is the most commonly used tool for...
: Congenital diaphragmatic hernia (CDH) is defined as organ protrusion from the abdominal to the thoracic cavity. The Hadlock formula is the most commonly used tool for calculating estimated fetal weight (EFW). The anatomical nature of CDH usually leads to underestimation of the abdominal circumference, resulting in underestimation of fetal weight. Accurate weight estimation is essential before birth for counselling, preparation before surgery and ECMO. The research is made to compare the accuracy of Hadlock's formula and Faschingbauer's formula for fetal weight estimation in CDH fetuses population. : In our study, we investigated differences between EFW and actual birthweight in 42 fetuses with CDH as compared to 80 healthy matched controls. EFW was calculated using the Hadlock formula and a recently introduced formula described by Faschingbauer et al., which was tailored for fetuses with CDH. Additionally, both of the formulas were adjusted for the interval between the ultrasound and delivery for both of the groups. : The majority of hernias were left-sided (92.8% vs. 7.2%). EFW adjusted for the interval between the ultrasound and delivery had the highest correlation with the actual birthweight in both, study group and controls. We compared the results for both tools and found the Hadlock formula to predict birthweight in CDH children with a 7.8 ± 5.5% error as compared to 7.9 ± 6.5% error for the Faschingbauer's formula. : The Hadlock formula adjusted for the interval between the ultrasound and delivery is a more precise method of calculating EFW in fetuses with CDH. Routine biometry scan using Hadlock's formula remains reliable for predicting birthweight.
PubMed: 38929920
DOI: 10.3390/jcm13123392 -
Journal of Indian Association of... 2024Closure of congenital body wall defects in children can be a challenging task for the pediatric Surgeon. Biological prosthesis has been increasingly used for high-risk...
AIMS
Closure of congenital body wall defects in children can be a challenging task for the pediatric Surgeon. Biological prosthesis has been increasingly used for high-risk wound closure in adult patients with excellent outcomes and use in the pediatric population has also been reported. Here, we aim to study the outcome of abdominal wound repair with a tissue-engineered acellular bovine pericardial patch.
METHODS
Over a period of 21 months, a total of 15 children had undergone abdominal wound repair with bioprostheses, i.e., bovine pericardial patch at our institute. Patient demographics, cause of defect, an indication of patch use, rate of infection, postoperative recovery, recurrence, and outcome were studied.
RESULTS
A total of 15 patients underwent abdominal wall closure with acellular bovine pericardial patch. Nine out of 15 patients were neonates, of whom five had gastroschisis, two had a congenital diaphragmatic hernia, and two had ruptured omphalocele major. Of the rest 6 patients, 2 were patients of bladder exstrophy, 2 were older children of congenital diaphragmatic hernia with incisional hernias, and 2 were older children with omphalocele major. Out of the five patients with gastroschisis, two died during the early postoperative period due to sepsis. The wound healed in the rest 13 patients with mild skin dehiscence in two patients. Only one child had a recurrence.
CONCLUSION
Reconstruction with acellular bovine pericardial patch is a viable option in children with high-risk abdominal wounds as it allows tensionless repair with excellent healing and minimal complications. Recurrence, if any, may disappear with time as remodeling of the prosthesis occurs along with the growth of the body wall of the child.
PubMed: 38912025
DOI: 10.4103/jiaps.jiaps_230_23 -
Sao Paulo Medical Journal = Revista... 2024Concerns regarding high open surgery-related maternal morbidity have led to improvements in minimally invasive fetal surgeries.
BACKGROUND
Concerns regarding high open surgery-related maternal morbidity have led to improvements in minimally invasive fetal surgeries.
OBJECTIVE
To analyze the perinatal and maternal outcomes of minimally invasive fetal surgery performed in Rio de Janeiro, Brazil.
DESIGN AND SETTING
Retrospective cohort study conducted in two tertiary reference centers.
METHODS
This retrospective descriptive study was conducted using medical records from 2011 to 2019. The outcomes included maternal and pregnancy complications, neonatal morbidity, and mortality from the intrauterine period to hospital discharge.
RESULTS
Fifty mothers and 70 fetuses were included in this study. The pathologies included twin-twin transfusion syndrome, congenital diaphragmatic hernia, myelomeningocele, lower urinary tract obstruction, pleural effusion, congenital upper airway obstruction syndrome, and amniotic band syndrome. Regarding maternal complications, 8% had anesthetic complications, 12% had infectious complications, and 6% required blood transfusions. The mean gestational age at surgery was 25 weeks, the mean gestational age at delivery was 33 weeks, 83% of fetuses undergoing surgery were born alive, and 69% were discharged from the neonatal intensive care unit.
CONCLUSION
Despite the small sample size, we demonstrated that minimally invasive fetal surgeries are safe for pregnant women. Perinatal mortality and prematurity rates in this study were comparable to those previously. Prematurity remains the most significant problem associated with fetal surgery.
Topics: Humans; Female; Pregnancy; Retrospective Studies; Brazil; Adult; Infant, Newborn; Minimally Invasive Surgical Procedures; Pregnancy Outcome; Fetal Diseases; Pregnancy Complications; Gestational Age; Young Adult; Perinatal Mortality
PubMed: 38896578
DOI: 10.1590/1516-3180.2023.0159.R1.16022024 -
Frontiers in Pediatrics 2024The role of cardiac left ventricle (LV) dysfunction in children with congenital diaphragmatic hernia (CDH) has gained increasing attention. The hernia allows abdominal...
INTRODUCTION
The role of cardiac left ventricle (LV) dysfunction in children with congenital diaphragmatic hernia (CDH) has gained increasing attention. The hernia allows abdominal mass to enter thorax and subsequently both dislocating and compressing the heart. The pressure on vessels and myocardium alters blood flow and may interfere with normal development of the LV. A dysfunctional LV is concerning and impacts the complex pathophysiology of CDH. Hence, assessing both the systolic and diastolic LV function in the newborn with CDH is important, and it may add value for medical treatment and prognostic factors as length of stay (LOS) in pediatric intensive care unit (PICU). LV strain is considered an early marker of systolic dysfunction used in the pediatric population. Left atrial (LA) strain is an echocardiographic marker of LV diastolic dysfunction used in the adult population. When filling pressure of the LV increases, the strain of the atrial wall is decreased. We hypothesized that reduced LA strain and LV strain are correlated with the LOS in the PICU of newborns with CDH.
METHODS
This retrospective observational cohort study included data of 55 children born with CDH between 2018 and 2020 and treated at Karolinska University Hospital, Sweden. Overall, 46 parents provided consent. Echocardiograms were performed in 35 children <72 h after birth. The LA reservoir strain (LASr), LV global longitudinal strain, LV dimensions, and direction of blood flow through the patent foramen ovale (PFO) were retrospectively assessed using the echocardiograms.
RESULTS
Children with LASr <33% ( = 27) had longer stays in the PICU than children with LA strain ≥33% ( = 8) (mean: 20.8 vs. 8.6 days; < 0.002). The LASr was correlated with the LOS in the PICU (correlation coefficient: -0.378; = 0.025). The LV dimension was correlated with the LOS (correlation coefficient: -0.546; = 0.01). However, LV strain was not correlated to LOS.
CONCLUSION
Newborns with CDH and a lower LASr (<33%) had longer stays in the PICU than children with LASr ≥33%. LASr is a feasible echocardiographic marker of diastolic LV dysfunction in newborns with CDH and may indicate the severity of the condition.
PubMed: 38895191
DOI: 10.3389/fped.2024.1404350 -
Cureus May 2024Bochdalek hernia is an inherited posterior lateral defect in the diaphragm that allows the abdominal organs to herniate into the thoracic cavity. In addition to being...
Bochdalek hernia is an inherited posterior lateral defect in the diaphragm that allows the abdominal organs to herniate into the thoracic cavity. In addition to being the most prevalent variety of congenital diaphragmatic hernia (CDH), it is also the type that is observed on the left hemithorax the majority of the time. Ectopic kidney is an uncommon condition, and the occurrence of ectopic intrathoracic kidney is even more uncommon, accounting for only a few of all the cases of renal ectopias. The occurrence of intrathoracic kidney associated with Bochdalek hernia is infrequent among adult individuals and is typically an incidental finding. A 52-year-old obese female patient presented to the pulmonology outpatient unit and reported experiencing the symptoms of coughing, wheezing, and difficulty in breathing since three years. A chest radiograph revealed an elevated dome of the diaphragm on the right side. A computed tomography (CT) of the chest revealed a defect in the posterior aspect of the right hemi-diaphragm with herniation of the right kidney and retroperitoneal fat into the right hemi-thorax. CT urography showed normal size and enhancement of the intrathoracic kidney with prompt excretion of contrast into the pelvicalyceal system. With regard to the small size of the hernia and considering the absence of complications on CT urography, a conservative treatment was proposed to the patient. The patient was followed up every year. There was no occurrence of renal complications during the follow-up period. When evaluating patients with 'elevated hemi-diaphragm' or thoracic 'mass', it is essential to check for the presence of intrathoracic kidney to avoid undesirable surgical procedures and image-guided biopsies.
PubMed: 38894760
DOI: 10.7759/cureus.60598 -
Scientific Reports Jun 2024Congenital diaphragmatic hernia (CDH) is a birth defect characterized by incomplete closure of the diaphragm, herniation of abdominal organs into the chest, and...
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.
Topics: Animals; Hernias, Diaphragmatic, Congenital; Neurons; Oligodendroglia; Rats; Humans; Brain; Female; Stem Cells; Fetus; Disease Models, Animal; Pregnancy; Male
PubMed: 38871804
DOI: 10.1038/s41598-024-64412-x -
International Journal of Surgery Case... Jul 2024Sternutation is, by definition, a situation that increases abdominal pressure. However, it has not been clearly linked to protrusion of abdominal content through...
INTRODUCTION AND IMPORTANCE
Sternutation is, by definition, a situation that increases abdominal pressure. However, it has not been clearly linked to protrusion of abdominal content through weaknesses in the abdominal boundaries.
CASE PRESENTATION
Here we present a case report in which the only trigger factor found for an abdominal content protrusion was a sternutation episode. The patient arrived in our institution with the diagnosis of a transdiaphragmatic intercostal hernia, proven in CT-scan. He was, then, submitted to emergent surgery, where through thoracotomy and subcostal laparotomy, hernia content was reduced. The patient had a favorable evolution.
CLINICAL DISCUSSION
TDIH is a rare entity, for which there are still no consensus regarding its management. This makes clinical practice more challenging, leaving to the surgeon the therapeutic decision tailored to each patient.
CONCLUSION
This entity should be further studied, and consensus reached regarding its management.
PubMed: 38865944
DOI: 10.1016/j.ijscr.2024.109824 -
International Journal of Surgery Case... Jul 2024Right-side diaphragmatic hernia is a very rare cause of bowel obstruction and strangulation in adults, which is usually a congenital disorder.
INTRODUCTION
Right-side diaphragmatic hernia is a very rare cause of bowel obstruction and strangulation in adults, which is usually a congenital disorder.
CASE PRESENTATION
A- 55-year-old male presented to the emergency department of our hospital complaining of abdominal pain, nausea, vomiting, abdominal distension, fever, and constipation for 4 days. On physical examination, the patient was fibril, toxic, tachycardic, and hypotensive. The patient had a distended abdomen with exaggerated bowel sounds, abdominal tenderness, guarding, and rigidity mostly in the right upper quadrant. There were some degrees of tempanicity on percussion. The digital rectal examination was normal with no evidence of impacted stool.
DISCUSSION
Patients with a diaphragmatic hernia frequently present with manifestations of internal herniation, incarceration, obstruction, ischemia from strangulation, or perforation. The patient may present with respiratory symptoms such as dyspnea, absence of breath sounds in the thorax, or abdominal symptoms such as abdominal pain and bowel dilatation.
CONCLUSION
Diaphragmatic hernia, which is a rare case, should be included in the differential diagnosis of small bowel obstruction to preclude complications.
PubMed: 38852557
DOI: 10.1016/j.ijscr.2024.109831 -
Journal of Medical Genetics Jun 2024Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases...
INTRODUCTION
Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described.
METHOD
After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases.
RESULTS
We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in , outside of the two previously known mutational hotspots.
CONCLUSION
Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.
PubMed: 38849204
DOI: 10.1136/jmg-2024-109854