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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 -
Rozhledy V Chirurgii : Mesicnik... 2024This 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...
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.
Topics: Humans; Female; Adult; Colonic Diseases; Hernia, Diaphragmatic; Intestinal Obstruction; Hernias, Diaphragmatic, Congenital; Incarceration
PubMed: 38886105
DOI: 10.33699/PIS.2024.103.3.100-103 -
Advances in Experimental Medicine and... 2024Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and...
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogeneous. Chromosomal abnormalities such as aneuploidy and structural variations as well as rare point mutations in various genes have been reported to be associated with this cardiac defect. This includes both well-defined syndromes with known genetic cause (e.g., DiGeorge syndrome and Holt-Oram syndrome) and so far undefined syndromic forms characterized by unspecific symptoms. Mutations in genes encoding cardiac transcription factors (e.g., NKX2-5 and GATA4) and signaling molecules (e.g., CFC1) have been most frequently found in VSD cases. Moreover, new high-resolution methods such as comparative genomic hybridization enabled the discovery of a high number of different copy number variations, leading to gain or loss of chromosomal regions often containing multiple genes, in patients with VSD. In this chapter, we will describe the broad genetic heterogeneity observed in VSD patients considering recent advances in this field.
Topics: Humans; Chromosome Aberrations; DNA Copy Number Variations; Genetic Predisposition to Disease; Heart Septal Defects, Ventricular; Mutation; Transcription Factors
PubMed: 38884729
DOI: 10.1007/978-3-031-44087-8_27 -
Archives of Disease in Childhood. Fetal... Jun 2024The Gaps in the Congenital Diaphragmatic Hernia (CDH) Journey Priority Setting Partnership (PSP) was developed in collaboration with CDH Australia, James Lind Alliance...
OBJECTIVES
The Gaps in the Congenital Diaphragmatic Hernia (CDH) Journey Priority Setting Partnership (PSP) was developed in collaboration with CDH Australia, James Lind Alliance (JLA) and the Murdoch Children's Research Institute to identify research priorities for people with CDH, their families and healthcare workers in Australasia.
DESIGN
Research PSP in accordance with the JLA standardised methodology.
SETTING
Australian community and institutions caring for patients with CDH and their families.
PATIENTS
CDH survivors, families of children born with CDH (including bereaved) and healthcare professionals including critical care physicians and nurses (neonatal and paediatric), obstetric, surgical, allied health professionals (physiotherapists, speech pathologists and speech therapists) and general practitioners.
MAIN OUTCOME MEASURE
Top 10 research priorities for CDH.
RESULTS
377 questions, from a community-based online survey, were categorised and collated into 50 research questions. Through a further prioritisation process, 21 questions were then discussed at a prioritisation workshop where they were ranked by 21 participants (CDH survivors, parents of children born with CDH (bereaved and not) and 11 multidisciplinary healthcare professionals) into their top 10 research priorities.
CONCLUSION
Stakeholders' involvement identified the top 10 CDH-related research questions, spanning from antenatal care to long-term functional outcomes, that should be prioritised for future research to maximise meaningful outcomes for people with CDH and their families.
PubMed: 38880507
DOI: 10.1136/archdischild-2024-327108 -
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 -
Journal of Minimally Invasive Gynecology Jun 2024To assess the feasibility, effectiveness and safety of the robotic surgical approach in the treatment of severe diaphragmatic endometriosis (DE).
STUDY OBJECTIVE
To assess the feasibility, effectiveness and safety of the robotic surgical approach in the treatment of severe diaphragmatic endometriosis (DE).
DESIGN
Retrospective single-center study using data prospectively recorded in the Franco-European Multidisciplinary Institute of Endometriosis (IFEMendo) database and National observatory for endometriosis (NoEndo) database.
SETTING
Tertiary referral center. Endometriosis care center.
PATIENTS
Sixty consecutive patients undergoing robotic excision of severe DE from January 2020 to July 2023.
INTERVENTIONS
Robotic excision of severe DE.
MEASUREMENT
Categorical and continuous variables were evaluated and compared using descriptive statistics. A p-value of <0.05 was considered statistically significant.
MAIN RESULTS
Full thickness diaphragmatic resection was performed in 76.7% of patients (46/60), partial diaphragmatic muscle resection in 10% (6/60) of cases. Peritoneal stripping technique was performed in 60% (36/60) of patients, divided as follows: as the only technique in case of extensive superficial diaphragmatic involvement in 13.3% of cases (8/60); in addition to full-thickness or partial diaphragmatic resection in case of concomitant multiple foci in 46.7% of patients (28/60). Median operative time was 79.6 minutes with no statistically significative difference related to the surgeon performing surgery (p>0.05). Intraoperative and postoperative complications occurred in 1.7% (1/60) and 6.6% (4/60) of cases, respectively. Diaphragmatic hernia (Clavien-Dindo 3b) was the most common postoperative complication and required surgical repair in all cases. Median hospital stay was 24 hours. The rate of patients with complete recovery from DE symptoms has gradually increased during follow-up, reaching 89% after 12 months from surgery.
CONCLUSION
In this case series, robotic treatment of severe diaphragmatic endometriosis in expert hands was feasible, effective and safe.
SUMMATION
A robotic stepwise approach allows safe and radical excision of a severe form of diaphragmatic endometriosis.
PubMed: 38866098
DOI: 10.1016/j.jmig.2024.06.002 -
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 -
Prenatal Diagnosis Jun 2024To evaluate the diagnostic yield of exome sequencing (ES) in fetuses and neonates with prenatally detected congenital diaphragmatic hernia (CDH) and normal copy number...
OBJECTIVE
To evaluate the diagnostic yield of exome sequencing (ES) in fetuses and neonates with prenatally detected congenital diaphragmatic hernia (CDH) and normal copy number variant (CNV) analysis.
METHODS
We conducted a retrospective cohort study of prenatally diagnosed CDH cases seen between 2019 and 2022. All cases who underwent prenatal or postnatal genetic testing were reviewed. The results from the ES analysis that identified pathogenic or likely pathogenic single nucleotide variants are described.
RESULTS
In total, 133 fetuses with CDH were seen, of whom 98 (74%) had an isolated CDH and 35 (26%) had a complex CDH (associated structural anomalies) on prenatal examination. ES was performed in 68 cases, and eight pathogenic or likely pathogenic variants were found, accounting for a 12% diagnostic yield (10% [5/50] in isolated cases and 17% [3/18] in complex CDH).
CONCLUSIONS
In 12% of fetuses and neonates with CDH and normal CNV analysis results, pathogenic or likely pathogenic variants were identified with ES. These data indicate that there is a substantial diagnostic yield when offering ES in prenatally detected CDH, both in complex and isolated cases.
PubMed: 38862387
DOI: 10.1002/pd.6622