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Archives of Gynecology and Obstetrics May 2024To 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.
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.
PubMed: 38782762
DOI: 10.1007/s00404-024-07545-8 -
Radiographics : a Review Publication of... Jun 2024Acute diaphragmatic abnormalities encompass a broad variety of relatively uncommon and underdiagnosed pathologic conditions, which can be subdivided into nontraumatic... (Review)
Review
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.
Topics: Humans; Diaphragm; Diagnosis, Differential; Acute Disease; Female; Hernias, Diaphragmatic, Congenital
PubMed: 38781091
DOI: 10.1148/rg.230110 -
Case Reports in Pediatrics 2024Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with...
Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5-25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.
PubMed: 38779305
DOI: 10.1155/2024/7518183 -
Prenatal Diagnosis Jul 2024Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal...
Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal outflow tract of the heart. A de novo heterozygous variant c.5500_5507del, p.(Tyr1834Argfs × 58) in the MED12 gene was detected. Loss-of-function variants in MED12 in females are associated with Hardikar syndrome (HS). A follow-up ultrasound at 15 weeks of gestation identified multiple fetal anomalies including bilateral cleft lip and palate, diaphragmatic hernia, atrioventricular septal defect, persistent truncus arteriosus, and bilateral renal pelvis dilation. Fetal autopsy confirmed the prenatal sonographic findings, and the MED12 variant was discussed by our multidisciplinary team to be the cause of fetal anomalies. Our case is the first prenatal one in which HS was diagnosed due to first trimester structural malformations. This case report presents another example of early identification of a major anomaly which allows earlier genetic diagnosis and more time for clinical management.
Topics: Humans; Female; Pregnancy; Pregnancy Trimester, First; Cleft Palate; Adult; Heart Defects, Congenital; Ultrasonography, Prenatal; Cleft Lip; Abnormalities, Multiple; Mediator Complex; Exome Sequencing
PubMed: 38777622
DOI: 10.1002/pd.6594 -
BJS Open May 2024In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards... (Review)
Review
BACKGROUND
In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these 'grown-ups' in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood.
METHODS
A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership.
RESULTS
This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer.
CONCLUSION
The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.
Topics: Humans; Child; Congenital Abnormalities; Neoplasms; Adult; Surgical Procedures, Operative
PubMed: 38776252
DOI: 10.1093/bjsopen/zrae028 -
Proceedings of the National Academy of... May 2024Megalin (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...
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, , 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 , , 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 , , 4229-4234 (1996)], and other illnesses.
Topics: Low Density Lipoprotein Receptor-Related Protein-2; Cryoelectron Microscopy; Animals; Humans; Rats; Ligands; Endocytosis; Agenesis of Corpus Callosum; Renal Tubular Transport, Inborn Errors; Myopia; Hernias, Diaphragmatic, Congenital; Proteinuria; Hearing Loss, Sensorineural
PubMed: 38771880
DOI: 10.1073/pnas.2318859121 -
BMC Pediatrics May 2024Acute 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...
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.
Topics: Humans; Stomach Volvulus; Female; Child, Preschool; Acute Disease; Hernias, Diaphragmatic, Congenital; Ultrasonography; Fluoroscopy
PubMed: 38769486
DOI: 10.1186/s12887-024-04834-8 -
Hernia : the Journal of Hernias and... May 2024The objective of this study is to elucidate the clinical and demographic profiles, as well as perioperative outcomes, of patients undergoing surgery for non-hiatal...
OBJECTIVE
The objective of this study is to elucidate the clinical and demographic profiles, as well as perioperative outcomes, of patients undergoing surgery for non-hiatal diaphragmatic hernias. Additionally, it aims to analyse these outcomes based on the surgical approach employed (transthoracic versus transabdominal).
METHODS
This retrospective, observational study was conducted at a single center and involved patients diagnosed with non-hiatal diaphragmatic hernia who underwent either emergency or elective surgery between July 2007 and March 2023. Clinical characteristics and perioperative outcomes of these patients were compared using appropriate statistical tests.The research protocol for this observational, retrospective, and comparative study followed the Declaration of Helsinki's ethical requirements. The need for Clinical Research Ethics Committee approval was waived according to our institutional law because the study was a retrospective cohort study based on anonymous data of patients. Informed consent was waived because this study involved the secondary analysis of patient medical records. Additionally, this study followed the STROBE guidelines for reporting observational studies.
RESULTS
The analysis included 22 patients being 59.1% men, with median age of 61 years. The predominant clinical presentation was restrictive lung disease (40.9%). The majority of cases (68%) had traumatic aetiology with a median defect size of 4 cm (range of 3-8 cm). Elective surgery was performed in 15 cases (68.1%) and transthoracic approach was employed in 13 patients (54.5%). Postoperative major morbidity reached 27.2% and mortality within 30 days was 9.1%. Emergency surgeries accounted for 44.4% of transabdominal interventions, compared to 23% in the transthoracic subgroup (p = 0.376). There were no statistically significant differences between the transabdominal and trasnthoracic approaches in terms of global postoperative complications (88.8% vs. 84.6%, p = 1), major complications (44.4% vs 15.4%, p = 0.734), mortality (11.1% v 7.6%, p = 1) and recurrence (11.1% vs 7.6%, p = 1). Postoperative stay was significantly shorter in the transthoracic subgroup (6 days vs. 14 days, p = 0.011).
CONCLUSIONS
Non-hiatal diaphragmatic hernias are characterized by significant postoperative major morbidity and mortality rates, standing at 27.2% and 9.1%, respectively, accompanied by a recurrence rate of 9.1%. Both transthoracic and transabdominal approaches demonstrate comparable short- and long-term outcomes.
PubMed: 38767717
DOI: 10.1007/s10029-024-03065-1 -
Journal of Visualized Experiments : JoVE May 2024Following a hiatal hernia repair, patients can present with recurrent or new symptoms. Symptoms can occur anywhere from weeks to years after surgery. These may include...
Following a hiatal hernia repair, patients can present with recurrent or new symptoms. Symptoms can occur anywhere from weeks to years after surgery. These may include recurrent reflux, dysphagia, regurgitation, weight loss, or deteriorating quality of life. While nonoperative management can be pursued in some patients, reoperation may be the only option in select patients. A thorough preoperative workup, including a repeat esophagram, upper endoscopy, +/- chest computed tomography (CT) scan, manometry, pH probe, and/or gastric emptying study, is warranted to better understand the pathophysiology of the presenting symptoms. If a recurrent hernia, slipped, or migrated wrap is identified, surgery is considered. Pseudoachalasia must also be ruled out if obstructive symptoms are observed at the hiatus. Such an exhaustive workup is indeed necessary to ensure accurate diagnosis and optimal outcome. In addition, an understanding of the factors that may have led to the recurrence will increase the chances of a successful reoperation. Although a technically demanding procedure, redo hiatal hernia repair utilizing a minimally invasive approach is increasingly being employed with promising outcomes. Herein, the steps of a redo hiatal hernia repair via a minimally invasive approach will be outlined and detailed.
Topics: Hernia, Hiatal; Humans; Herniorrhaphy; Reoperation; Postoperative Complications; Recurrence
PubMed: 38767385
DOI: 10.3791/64839 -
World Journal of Clinical Cases May 2024A Bochdalek hernia (BH) is a congenital diaphragmatic hernia that often develops in the neonatal period. BH typically occurs on the left side of the diaphragm. A...
BACKGROUND
A Bochdalek hernia (BH) is a congenital diaphragmatic hernia that often develops in the neonatal period. BH typically occurs on the left side of the diaphragm. A right-sided BH in an adult is rare.
CASE SUMMARY
A 45-year-old man was referred to our hospital because of an abnormal shadow seen on chest radiography during a medical check-up. A chest radiograph showed elevation of the right hemidiaphragm. Computed tomography showed prolapse of multiple intraabdominal organs into the right thoracic cavity, corresponding to a right-sided BH. The herniated contents included the stomach, transverse colon, and left lobe of the liver. The left lobe of the liver was enlarged, particularly the medial segment. Laparoscopic surgery was performed. However, the left lobe of the liver was completely trapped in the thoracic cavity. Therefore, thoracoscopic manipulation had to be performed to return the liver to the abdominal cavity. The hernia was repaired with interrupted nonabsorbable sutures and reinforced with mesh.
CONCLUSION
Combined laparoscopic and thoracoscopic surgery was successfully performed for right-sided BH with massive liver prolapse and abnormal liver morphology.
PubMed: 38765754
DOI: 10.12998/wjcc.v12.i14.2420