Congenital Diaphragmatic Defects Research Articles

On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases

Background: Autosomal recessive cutis laxa type-1C is also known as Urban-Rifkin-Davis syndrome (URDS). It is known to affect cardiopulmonary, integumentary, gastrointestinal, musculoskeletal and genitourinary systems. However, its frequent association with congenital diaphragmatic hernia has not previously been highlighted. Case Presentation: A newborn male with cutis laxa presented with respiratory distress at birth. The cause of dyspnoea was perinatal strangulation of the stomach in hiatus hernia. After surgical repair of the hernia, his respiratory distress temporarily improved but kept recurring periodically by various mechanisms in sequence namely pulmonary hypertension, tracheomalacia, pulmonary emphysema and finally he succumbed to pneumothorax. Genetic analysis revealed his skin condition as autosomal recessive cutis laxa type-1C which is also known as URDS. Exome sequencing revealed a novel frameshift mutation c.426delC (p.Cys143Alafs*41) of the LTBP4 gene in the exon 5 of Chromosome 19. Conclusion: Out of the 28 cases of URDS reported in the world literature 57% had congenital diaphragmatic hernia (CDH) and 53% of them died during infancy. Such a high incidence of CDH is not observed in other subtypes of elastic disorders. Thus, congenital diaphragmatic defects appear to be a characteristic diagnostic feature of URDS in patients with cutis laxa.

Conservative approach in adult right-sided Bochdalek hernia with an intrathoracic ectopic kidney

Bochdalek hernia (BH) is a congenital diaphragmatic defect primarily diagnosed in neonates and is usually left-sided. Adult diagnosis, especially of right-sided BH is exceedingly rare and usually presents with symptoms. Till now, only 31 cases have been diagnosed to be right-sided BH along with intrathoracic kidney. This report presents a 26-year-old asymptomatic male who was incidentally diagnosed with a massive right congenital diaphragmatic hernia. Imaging revealed severe abdominal herniation, a right intrathoracic ectopic kidney, and a right liver lobe hypoplasty along with hypertrophied left liver lobe extending down to the pelvic cavity. Several surgeons were consulted, with controversial opinions on whether elective surgery should be performed or withheld. Due to the high risk associated with surgery and the patient’s choice, the surgery was deferred. For almost 18 months, the patient did not report any symptoms or complications. This case highlights the rarity of asymptomatic right-sided BH in adults and the challenges in determining a management approach. Also, it proposes a conservative approach for such patients as a management modality. Most extensive diagrammatic defect reported is estimated to have a neck defect of 10 cm. Most BH cases have been treated surgically and reports on the outcome of a conservative approach are exceedingly rare. In such cases, patient preferences and a thorough risk assessment play vital roles in decision-making regarding conservative versus surgical approaches.

S3140 Posterior Mediastinal Mass: Unraveling a Non-Traumatic Herniation of the Caudate Lobe of the Liver

Introduction: Posterior mediastinal mass is most likely due to neurogenic tumor, meningocele or thoracic spine lesions. Caudate lobe of the liver herniation presenting as posterior mediastinal mass is a rare occurrence. Diaphragmatic herniation (DH) of the caudate lobe presents in various way including dyspnea, dyspepsia or incidental finding on imaging. We present a case of diaphragmatic hernia of the caudate lobe of the liver presenting as a posterior mediastinal mass found during evaluation of dyspnea. Case Description/Methods: A 75-year-old female presented to her physician with worsening shortness of breath from her baseline of 3 days duration. She had a history of sarcoidosis, COVID pneumonia over 1 year ago, COPD, diastolic heart failure, and hypertension. She was initially evaluated for COVID re-infection, which was negative and a CT of the chest with contrast to check for sarcoidosis flare revealed posterior mediastinal mass measuring 4.5 × 6.5 × 6.4 cm. Further work up with CT chest and abdomen with contrast revealed that the posterior mediastinal mass had similar attenuation as the liver and appears continuous with the caudate lobe of the liver. This was confirmed by NM scan of liver. Review of her records from an outside organization revealed similar finding on imaging a few years ago. Patient denied any history of trauma and laboratory work up revealed normal liver functions. After pulmonologist evaluation she was started on 2 L home oxygen following six-minute walk test, and also CPAP following a positive sleep study. Pulmonary function tests were performed and inhalers were continued. Given the chronicity of her symptoms and co-morbidities with stable caudate lobe herniation, conservative management was advised with surgery warranted if symptoms persist despite treatment (Figure 1). Discussion: DH is typically found on the left side with stomach or intestine while the right side is usually guarded by the liver. Isolated herniation of part of the liver into the thoracic cavity is rarely reported and is mostly acute from traumatic or spontaneous rupture requiring immediate repair. Our patient was initially evaluated for the posterior mediastinal mass for concerns of tumor, followed by the finding of what was thought to be acute herniation of the caudate lobe of liver into the thoracic cavity. Review of records showed this to be a stable lesion, we suspect that the patient had congenital diaphragmatic defect. Chronic and stable liver herniation into thoracic cavity can be managed conservatively if uncomplicated.Figure 1.: (A) Computed Tomography of chest with contrast (axial view) showing a well-defined soft tissue density lesion in the posterior mediastinum (red arrow). (B) Computed Tomography of the chest, abdomen and pelvis with contrast (sagittal view) showing well defined soft tissue mass in the posterior mediastinum (red arrow) similar in attenuation to the adjacent liver and appears continuous with the caudate lobe of liver.

Agenesis of Right Diaphragm in the Adults: A Diagnostic Dilemma

Diaphragmatic agenesis is the most extreme form of congenital diaphragmatic defect, and it may be unilateral or bilateral. Diaphragmatic agenesis is a rare diagnosis, typically made early in infancy and is generally associated with other genetic anomalies, especially anueploidy syndromes. It is associated with a high mortality, if not treated in infancy. However, a few patients have survived till adulthood. In this report, we describe the case of an adult female who presented with progressive shortness of breath during third trimester of pregnancy with complete agenesis of the right side of the diaphragm. A new diaphragm was created using polypropylene mesh after which she improved symptomatically and the lung showed good expansion.

Late Diagnosis of a Congenital Diaphragmatic Defect With a Large Enterothorax in a 7-Year-Old-Child.

Denzinger, Markus*; Kiefer, Alexander†; Memmel, Clemens*; Reis Wolfertstetter, Patricia*; Knorr, Christian* Author Information

NONTRAUMATIC LIVER HERNIATION MIMICKING A LOWER LOBE LUNG MASS

TOPIC: Cardiothoracic Surgery TYPE: Medical Student/Resident Case Reports INTRODUCTION: Spontaneous diaphragmatic herniation is a rare type of acquired diaphragmatic hernia without any history of trauma. (1) We describe a case where a non-traumatic liver herniation through diaphragm was observed mimicking a lower lobe lung mass. CASE PRESENTATION: A 54-year-old female without prior thoraco-abdominal trauma was seen in the clinic because of growth of 2 right lower lobe lung nodules. These nodules were initially noted incidentally on CT scan in August 2009 and measured 1.5 cm x 2.8 cm and 0.9 cm x 1.3. They remained stable on CT scan and PET performed in 2010. Patient was lost follow-up after that until she had a CT scan in March 2019 because of concern of pneumonia and it was noted that the lung nodules have increased in size to 2.8 cm x 4.1 cm and 1.1 cm x 1.4 cm. The patient was otherwise asymptomatic. A PET scan was obtained which showed hypermetabolic nodules with maximum SUV of 3.29 and 1.4 for the larger and smaller nodule respectively. Radiographic appearance as well as the growth pattern was consistent with low-grade malignancy like carcinoid tumor. We performed robotic thoracoscopy with plan for wedge resection and possible completion lobectomy. Gross inspection of the thoracic cavity revealed abnormal mass on the dome of the diaphragm with appearance like liver. It was noted to be lying in the oblique fissure and corelated with the position of larger nodule seen on CT scan. There was a second area of thinned-out area of the diaphragm where a small nodule was noted pushing on the diaphragm with appearance like liver consistent with location of smaller lesion on CT scan. A Tru-Cut needle biopsy showed that it was benign liver tissue. The decision was made not to proceed with any diaphragmatic repair or reinforcement with mesh as this was an asymptomatic herniation through diaphragm and the liver was fibrosed to the diaphragm protecting from any intestinal herniation. DISCUSSION: A review of literature (1956-2009) revealed that there are 28 reported cases spontaneous diaphragmatic rupture (SDH) and of those only 10% had liver herniation. SDH is caused by events that increase intra-abdominal pressure like complicated labor, intense physical exercise, psychiatric illness, and cough secondary to pertussis. Another predisposing factor for SDH is congenital diaphragmatic defect which creates an area of weakness and increases the likelihood of herniation secondary to increased intra-abdominal pressure. SDH has also been described in association with other conditions like Ehler-Danlos Syndrome (EDS) and endometriosis because of weakness of diaphragmatic tissue. CONCLUSIONS: Our case was unique because the patient had asymptomatic SDH presenting as a lung mass without any history of etiologies leading to increased intra-abdominal pressure or weakness of diaphragm. Liver herniation through diaphragm can be managed without surgical repair if liver if fibrosed to diaphragm. REFERENCE #1: Losanoff JE, Edelman DA, Salwen WA, Basson MD. Spontaneous rupture of the diaphragm: case report and comprehensive review of the world literature. The Journal of thoracic and cardiovascular surgery. 2010 Jun 1;139(6):e127-8. REFERENCE #2: Stoica SC, Craig SR, Soon SY, Walker WS. Spontaneous rupture of the right hemidiaphragm after video-assisted lung volume reduction operation. The Annals of thoracic surgery. 2002 Sep 1;74(3):929-31. REFERENCE #3: Hamaoui K, Riaz A, Hay A, Botha A. Massive spontaneous diaphragmatic rupture in Ehlers–Danlos syndrome. The Annals of The Royal College of Surgeons of England. 2012 Mar;94(1):e5-7. DISCLOSURES: no disclosure on file for Annis Ali; No relevant relationships by Muhammad Adeel Samad, source=Web Response No relevant relationships by Diane Shih-Della Penna, source=Web Response no disclosure on file for Scott Tiedebohl

Right-sided Bochdalek hernia in an adult with hepatic malformation and intestinal malrotation

BackgroundBochdalek hernia is a common congenital diaphragmatic defect that usually manifests with cardiopulmonary insufficiency in neonates. It is very rare in adults, and symptomatic cases are mostly left-sided. Diaphragmatic defects generally warrant immediate surgical intervention to reduce the risk of incarceration or strangulation of the displaced viscera.Case presentationA 47-year-old woman presented with dyspnea on exertion. Computed tomography revealed that a large part of the intestinal loop with superior mesenteric vessels and the right kidney were displaced into the right thoracic cavity. Preoperative three-dimensional (3D) simulation software visualized detailed anatomy of displaced viscera and the precise location and size of the diaphragmatic defect. She underwent elective surgery after concomitant pulmonary hypertension was stabilized preoperatively. The laparotomic approach was adopted. Malformation of the liver and the presence of intestinal malrotation were confirmed during the operation. The distal part of the duodenum, jejunum, ileum, colon, and right kidney were reduced into the abdominal cavity consecutively. A large-sized oval defect was closed with monofilament polypropylene mesh. No complications occurred postoperatively.ConclusionSymptomatic right-sided Bochdalek hernia in adults is exceedingly rare and is frequently accompanied by various visceral anomalies. Accurate diagnosis and appropriate surgical repair are crucial to prevent possible incarceration or strangulation. The preoperative 3D simulation provided comprehensive information on anatomy and concomitant anomalies and helped surgeons plan the operation meticulously and perform procedures safely.

Right thoracic ectopic kidney with congenital diaphragmatic hernia

Thoracic ectopic kidney with congenital diaphragmatic hernia is a rare congenital malformation. We report a case of right thoracic ectopic kidney associated with congenital diaphragmatic hernia in a 4-year-old girl. Chest X-ray indicated the right diaphragmatic distention and contrast-enhanced CT showed thoracic ectopic kidney. We chose thoracoscopic approach for a complete anatomical repair. The bottom of the lower lobe of the right lung adhered to the hernia sac. Right thoracic ectopic kidney was pushed into abdominal cavity and congenital diaphragmatic defect was closed. Postoperative hemodynamics and renal function were normal. We review similar literatures and summarize surgical experience.

Extralobar pulmonary sequestrations hiding congenital diaphragmatic defects: A case series

Background: Association between pulmonary sequestration and diaphragmatic hernia is well known. Extralobar sequestrations are masses of the non-functioning lung, surrounded by separate pleura, without bronchial communication, and with a systemic arterial blood supply. They may be placed in the thorax, within the diaphragm, or rarely in a sub-diaphragmatic position. Case Series: We present three cases of extra-lobar extra-thoracic pulmonary sequestrations associated with different types of diaphragmatic defects. In none of the three cases, the diaphragmatic defect was detected prenatally. Conclusion: Pulmonary sequestration may be involved in the embryological origin of the diaphragmatic defect. Simultaneously, it acts as an anatomical barrier and prevents the herniation of the abdominal content into the thorax. If extralobar pulmonary sequestration is diagnosed prenatally, a coexistent diaphragmatic hernia should always be considered.

LAPAROSCOPIC REPAIR OF MORGAGNI HERNIA – A PROSPECTIVE SINGLECENTER EXPERIENCE

Morgagni hernia occurs after a congenital retrosternal diaphragmatic defect; it is a rare form of diaphragmatic hernia (1-3% of cases). In general, this pathology is diagnosed in children; in adults it is frequently discovered in emergency or incidentally. Methods: We prospectively evaluated a series of 6 patients admitted to department of surgery IGIMS. Results: Out of 6 patients the laparoscopic approach was used in all cases: one conversion was recorded due to the tight adherences of the herniated viscera (gastric, colon, epiplon). In 4 cases, the surgical cure of hernia was performed by suture and in 2 cases with prosthesis: dual mesh in one case and polypropylene mesh in another case. We did not register morbidity and the mean postoperative stay was 4 days (range 2-6 days). Conclusions: Hernia Morgagni betrays a rare pathology. The most common is asymptomatic but in complicated cases it is a cause of acute surgical abdomen. Surgical treatment is indicated even for asymptomatic cases due to serious complications Morgagni hernia may develop. The laparoscopic approach is ideal, as reduction of viscera in the abdomen is easy and the defect will be repaired by suturing or using a prosthesis, depending on its size.

Congenital right diaphragmatic defects: Our institutional experience.

Background:The descriptive clinical study was conducted to analyse the clinical profile as well as the outcome of congenital right diaphragmatic defects among children including neonates in a tertiary care referral neonatal and paediatric centre in southern Karnataka, India.Materials and Methods:This retrospective and prospective observational clinical study was conducted from January 2005 to August 2019, over a period of 14.7 years in a tertiary care referral neonatal and paediatric centre. Clinical characteristics and risk factors of 33 children including neonates admitted and diagnosed with congenital right diaphragmatic defects were assessed both pre- and postoperatively. Neonates and children with acquired right diaphragmatic hernia defects and the left-sided diaphragmatic defects were not included in this clinical study.Results:For statistical as well as clinical analysis, 33 study subjects were grouped into four groups, depending on the pre-operative and intraoperative findings as well as on their final diagnosis. Group I comprised right congenital diaphragmatic hernia (RCDH) (n = 18), Group II comprised RCDH with sac (n = 6), the babies with diagnosis of right diaphragmatic eventration were included in Group III (n = 7), whereas babies with other right-sided diaphragmatic hernia defects diagnosis were included in Group IV (n = 2).Conclusion:Right-sided congenital diaphragmatic defects, though rare, do carry excellent survival if referred early and managed in a tertiary care neonatal and paediatric centre as that of left diaphragmatic defects.

PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy

AbstractWe report a 2‐year‐old boy with left congenital diaphragmatic defect (CDH), pulmonary hypoplasia, and polyhydramnios who harbors compound heterozygous mutations, c.1109A>G and c.2497_2498del, in the PIGO gene. The facial appearance was characterized by cloudy cornea, broad and flat nasal bridge, long philtrum, low‐set ears, and micrognathia. Serum alkaline phosphatase level was consistently elevated, suggesting that he meets the criteria for Mabry syndrome. However, the observation of other anomalies including micropenis, cryptorchidism, and Hirschsprung disease suggests clinical features compatible with Fryns syndrome (FS). Left CDH and Hirschsprung disease were surgically repaired at 1 week and 3 months of age, respectively. He also exhibited multiple joint contractures and markedly decreased voluntary movement. Craw hands were seen but pes cavus was absent. Electrophysiology studies showed diffuse axonal demyelinating neuropathy. The cell surface expression of CD16, CD24, and CD59 on blood granulocytes was significantly reduced. The PIGO gene encodes ethanolamine phosphate transferase 3 in the glycosylphosphatidylinositol (GPI) biosynthesis pathway. Mutations in the gene are known to cause Mabry syndrome, an inherited GPI deficiency (IGD) characterized by hyperphosphatasia. IGDs show clinical heterogeneity and overlap with other syndromes and diseases. A severe end of the phenotypic spectrum can be recognized as FS. This is the first report of PIGO gene mutations in a Mabry syndrome patient who also meets the criteria for FS.

SWEET HYDROTHORAX: A RARE COMPLICATION OF PERITONEAL DIALYSIS

SESSION TITLE: Medical Student/Resident Disorders of the Pleura Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Hydrothorax is a rare complication of continuous ambulatory peritoneal dialysis (CAPD) with an incidence of approximately 2%(1). We present a case of hydrothorax secondary to CAPD. CASE PRESENTATION: 72-year-old female with past medical history of end-stage renal disease requiring peritoneal dialysis 4 times a day and type 2 diabetes mellitus presented with shortness of breath, productive cough, chest congestion and nausea for 2 days. She denied any fevers or chills. Vitals were stable with oxygen saturation of 97% on 2 L nasal cannula. Physical exam was significant for diminished breath sounds at the base of the right lung on auscultation. Electrocardiogram showed normal sinus rhythm with no ST changes. Laboratory results were significant for an elevated creatinine of 6.4 mg/dL whereas white blood cell count, lactic acid and troponins were unremarkable. A comprehensive respiratory panel including Influenza A & B, urine antigen testing for streptococcus pneumonia and legionella were also negative. Chest x-ray PA and lateral showed middle to lower lung lobe infiltrate with pleural effusion. Blood cultures that were obtained on admission did not grow any organisms. Patient was started on antibiotics for presumed community acquired pneumonia. Pulmonology performed right sided thoracentesis and 1600 mL of colorless clear fluid was drained. Patient experienced significant symptomatic relief post thoracentesis. Pleural fluid analysis revealed a pH of 7.3 and a high glucose concentration of 438 mg/dL (simultaneous blood glucose level of 103 mg/dL). Additionally, LDH and protein were suggestive of a transudative effusion as per Light’s criteria. Pleural fluid cultures remained negative. Given that pleural effusion was transudative with an elevated glucose level, the diagnosis of sweet hydrothorax was established. Antibiotics were discontinued. The patient was then transitioned to hemodialysis (HD). DISCUSSION: Sweet hydrothorax most commonly occurs on the right as compared to the left side and is more prevalent in women. Mechanisms of this phenomenon include pleuro-peritoneal pressure gradient, congenital diaphragmatic defects and lymphatic drainage disorders (2). Diagnoses involves thoracentesis with pleural fluid analysis revealing a marked elevation of glucose when compared to serum levels. This finding is pathognomonic for sweet hydrothorax. Imaging modalities used for diagnosis involve demonstrating the transfer of radiopaque dye across the diaphragm e.g. peritoneal scintigraphy, CT and MR Peritoneography, or direct visualization with video-assisted thoracoscopic surgery (VATS) (3). CONCLUSIONS: Management involves temporary cessation of CAPD, therapeutic thoracentesis, short dwell periods or dry days. Video-assisted thoracoscopic pleurodesis may be performed for patients who have failed conservative management. Most patients however end up switching permanently to HD. Reference #1: Szeto CC, Chow KM. Pathogenesis and management of hydrothorax complicating peritoneal dialysis. Current Opinion in Pulmonary Medicine. 2004 Jul;10(4):315-319. DOI: 10.1097/01.mcp.0000127901.60693.d0. Reference #2: Chow, K.M., Szeto, C.C. and Li, P.K.-T. (2003), Review Articles: Management Options for Hydrothorax Complicating Peritoneal Dialysis. Seminars in Dialysis, 16: 389-394. doi:10.1046/j.1525-139X.2003.16080.x Reference #3: Sydney Tang, Wing Hung Chui, Anthony W. C. Tang, Fu Keung Li, Wing Shun Chau, Yiu Wing Ho, Tak Mao Chan, Kar Neng Lai, Video-assisted thoracoscopic talc pleurodesis is effective for maintenance of peritoneal dialysis in acute hydrothorax complicating peritoneal dialysis, Nephrology Dialysis Transplantation, Volume 18, Issue 4, April 2003, Pages 804–808, https://doi.org/10.1093/ndt/gfg042 DISCLOSURES: No relevant relationships by Muhammad Hamza, source=Web Response No relevant relationships by Travis Hanson, source=Web Response No relevant relationships by Touba Naim, source=Web Response No relevant relationships by Muhammad Omar, source=Web Response

Complicated Diaphragmatic Hernia in Emergency Surgery: Systematic Review of the Literature.

Complicated diaphragmatic hernia (DH) can be congenital or acquired. Congenital diaphragmatic hernias (CDH) are rare and often can be asymptomatic until adulthood. Traumatic diaphragmatic hernia (TDH) is a complication that occurs in about 1-5% of victims of road accidents and in 10-15% of penetrating traumas of the lower chest. CDH and TDH are potentially life-threatening conditions, and the management in emergency setting still debated. This study aims to evaluate the surgical treatment options in emergency setting. A bibliographic research reporting the item "emergency surgery" linked with "traumatic diaphragmatic rupture" and "congenital diaphragmatic hernia" was performed. Several parameters were recorded including sex, age, etiology, diagnosis, treatment, site and herniated organs. The research included 146 articles, and 1542 patients were analyzed. Most of the complicated diaphragmatic hernias occurred for a diaphragmatic defect due to trauma, only 7.2% occurred for a congenital diaphragmatic defect. The main diagnostic method used was chest X-ray and CT scan. Laparotomic approach still remains predominant compared to the minimally invasive approach. Surgery is the treatment of choice and is strongly influenced by the preoperative setting, performed mainly with X-ray and CT scan. Minimally invasive approach is safe and feasible but is highly dependent on the surgeon's expertise, especially in emergency setting.

Early Left Ventricular Dysfunction and Severe Pulmonary Hypertension Predict Adverse Outcomes in "Low-Risk" Congenital Diaphragmatic Hernia.

Given significant focus on improving survival for "high-risk" congenital diaphragmatic hernia, there is the potential to overlook the need to identify risk factors for suboptimal outcomes in "low-risk" congenital diaphragmatic hernia cases. We hypothesized that early cardiac dysfunction or severe pulmonary hypertension were predictors of adverse outcomes in this "low-risk" congenital diaphragmatic hernia population. This is a retrospective cohort study using data from the Congenital Diaphragmatic Hernia Study Group registry. "Low-risk" congenital diaphragmatic hernia was defined as Congenital Diaphragmatic Hernia Study Group defect size A/B without structural cardiac and chromosomal anomalies. Examined risk factors included left ventricular dysfunction, right ventricular dysfunction, and severe pulmonary hypertension on the first postnatal echocardiogram. The primary outcome was composite adverse events, defined as either death, extracorporeal membrane oxygenation utilization, oxygen requirement on day 30 of life, or hospitalization greater than or equal to 8 weeks. Multivariable adjustment was performed with logistic regression and inverse probability weighting. Neonatal index hospitalization for congenital diaphragmatic hernia. "Low-risk" congenital diaphragmatic hernia infants born between January 2015 and December 2018. First postnatal echocardiogram performed within 24 hours from birth. Seven-hundred seventy-eight patients were identified as "low-risk" congenital diaphragmatic hernia. Left ventricular dysfunction, right ventricular dysfunction, and severe pulmonary hypertension were present in 10.8%, 20.5%, and 57.5%, respectively. The primary outcome occurred in 21.3%. Death occurred in 3.0% and 9.1% used extracorporeal membrane oxygenation. On unadjusted analysis, all three risk factors were associated with the primary outcome. On all multivariable adjustment methods, left ventricular dysfunction and severe pulmonary hypertension remained significant predictors of adverse outcomes while right ventricular dysfunction no longer demonstrated any effect. Early left ventricular dysfunction and severe pulmonary hypertension are independent predictors of adverse outcomes among "low-risk" congenital diaphragmatic hernia infants. Early recognition may lead to interventions that can improve outcome in this at-risk cohort.

HEART WITH SOME GUTS: TRAUMA INDUCED INTRA-PERICARDIAL DIAPHRAGMATIC HERNIA

Intrapericardial diaphragmatic hernia (IDH) can occur from traumatic, congenital or iatrogenic diaphragmatic defect of central tendon. In patients with thoracoabdominal trauma, it is relatively rare and has been reported in less than 1% of cases. 63-year-old female with Idiopathic thrombocytopenic

Ultrasonographic evaluation of the diaphragm

BackgroundUltrasonography is a promising technique for structural and functional evaluation of the diaphragm. It is accurate, reproducible, and portable with no ionizing radiation. Multiple studies have reported ultrasonography as the modality of choice for evaluation of the diaphragm.ObjectiveThe aim was to assess the role of ultrasound (US) in the evaluation of the diaphragm, either normal or abnormal, through evaluating its morphology, integrity, and measuring different parameters such as diaphragmatic thickness, thickening fraction, and excursion with proper assessment of supra/infradiaphragmatic lesions that affect the diaphragm.Patients and methodsIn all, 118 patients were recruited from the Chest and Radiology Departments, Cairo University, in the period from January to July 2019. All patients were subjected to history taking, clinical examination, and ultrasonographic assessment of the diaphragm. High-frequency linear transducer of 7.5–12 MHz was used for imaging the diaphragm and measuring its thickness. A low-frequency curvilinear transducer with a frequency of 3.5–5 MHz was used for assessing diaphragmatic excursion.ResultsCases were grouped into two groups, those with normal US findings of the diaphragm represented group A, while patients with any diaphragmatic abnormality represented group B. Group B included 41 patients with intrinsic (56.09%) and extrinsic diaphragmatic abnormalities (46.34%). Five (12.2%) cases have thickened diaphragm; two (4.9%) cases have thinned-out diaphragm; two (4.9%) cases showed congenital diaphragmatic defects; three (7.3%) cases showed acquired diaphragmatic defects; 10 (24.4%) cases showed diaphragmatic weakness; and nine (21.95%) cases showed diaphragmatic paralysis (7.6%).ConclusionUS is the technique of choice for assessing diaphragmatic movement on suspicion of malfunctioning. Ultrasonography is a promising technique for structural and functional evaluation of the diaphragm.

Technique of Single-Stage Laparoscopic Repair of Bilateral Morgagni Hernia

Abstract Introduction: Morgagni hernias account for 1.5%–6% of all congenital diaphragmatic defects.1 The majority of Morgagni hernias are unilateral, usually right sided with 2% being bilateral.2 ...

Successful Biocompatible Treatment of Diaphragmatic Hernia in a Rat Model

A median laparotomy was performed in young Wistar Furth rats with a body weight of 155 - 205 g. A defect was created by excising a 1.0 × 1.0 cm muscular segment of the left diaphragm, which was closed by implanting a PTFE mesh (n = 5), or a Lyoplant mesh (n = 6). For control purposes (sham group, n = 2), the defect was closed directly. Each rat was examined frequently for the duration of 12 weeks. After this period, the abdomen was reopened, examined for adhesions and the left diaphragm was explanted for histological examination. All operated Wistar Furth rats exhibited a physiological body weight gain after the procedure. During the above period, no recurrence of CDH could be found, either radiologically or clinically. In all animals (PTFE vs. Lyoplant vs. sham group), strong adhesions of the left liver lobe to the implanted material were found. In contrast to the PTFE mesh, constant tissue remodeling and continuous neovascularisation were found in the Lyoplant group. Our results show that Lyoplant can successfully be used for the biocompatible therapy of CDH in the rat model. The extent to which it can also be used to treat congenital diaphragmatic defects must be demonstrated by further experimental and clinical studies.

Inter- and Intra-rater Reliability of A Grading System for Congenital Diaphragmatic Hernia Defect Size

BackgroundThe Congenital Diaphragmatic Hernia Study Group (CDHSG) registry is a multi-institutional tool to track outcomes of patients with CDH. The CDHSG asks surgeons to categorize diaphragmatic defect sizes as type A-D based on published guidelines. The reported size of the defect has been correlated with patient outcomes, but the reliability of this system has never been studied. Our goal was to evaluate the inter- and intra-rater reliability of the CDHSG grading system. Materials and methodsForty-six operative notes from CDH patients that underwent surgical repair at a single institution were collected and cropped to include only the information necessary to grade the hernia defect based on the CDHSG guidelines. The defects were graded by nine pediatric surgeons on two separate occasions (18 wk apart). Inter-rater reliability was calculated using a Cohen's kappa (κ). Intra-rater reliability was calculated using an intraclass correlation coefficient. ResultsInter-rater reliability was minimal to weak (κ round1 = 0.395, κ round2 = 0.424). Agreement ranged from 19.57% (κ = −0.0745) to 82.61% (κ = 0.7543). Inter-rater agreement was similar despite operative findings and outcomes: survival yes/no (κ = 0.3690, κ = 0.3518), need for ECMO yes/no (κ = 0.3323, κ = 0.3362), patch repair yes/no (κ = 0.2050, κ = 0.1916), and liver up/down (κ = 0.2941, κ = 0.4404).Intra-rater reliability was good to excellent (intraclass correlation coefficient = 0.88, 95% CI [0.83-0.92]). Agreement with oneself ranged from 71.74% to 93.48%. ConclusionsThe demonstrated weak inter-rater reliability of the current CDHSG grading system shows the need for improvement in how the grading system is applied by surgeons when reporting CDH defect size.