Right-sided diaphragmatic hernia causing gastric outlet obstruction 1 month after trauma.

Diaphragmatic hernias arising from trauma are rare, and scarcely present in a delayed manner. This case report highlights a case of delayed presentation of a right-sided post-traumatic hernia in a woman in her early 70s following a fall. The aim of this report is to shed light on the diagnostic peculiarities and management. The woman presented with a 3-day history of abdominal pain and coffee-ground vomiting. This followed a fall a month ago. CT confirmed the diagnosis of a gastric outlet obstruction secondary to a right-sided diaphragmatic rupture. At surgery, the herniated abdominal contents were reduced, and the diaphragmatic defect was fixed. The postoperative recovery was unremarkable, and the patient was discharged on day 4. This case highlights that diaphragmatic hernias should be considered as differential diagnoses following recent trauma.

Validation of Point-of-Care ultrasound in the diagnosis of a diaphragmatic hernia.

Point-of-care ultrasound (POCUS) is a sensitive, specific tool for early diagnosis of diaphragm pathology in critically ill patients. We report the case of a patient with a history of iatrogenic diaphragmatic hernia who was admitted to the Resuscitation Unit after an emergency exploratory laparotomy. As the diagnosis of diaphragmatic hernia had already been confirmed, we determined the POCUS features that establish the diagnosis of diaphragmatic hernia: (1) normal bilateral diaphragmatic shortening fraction; (2) decreased diaphragmatic excursion; and (3) cephalic position of the diaphragmatic dome (4) greater in supine than in sitting position. We also outline a systematic ultrasound examination of the diaphragm and a POCUS-based differential classification of diaphragmatic dysfunction based on the functional integrity of the peripheral muscle and central diaphragmatic tendon in critically ill patients.

Right-Side Acquired Diaphragmatic Hernia in an Adult 15 Years After Living Donor Liver Transplant.

Cases of adult liver transplant recipients with a postoperative right-side acquired diaphragmatic hernia are extremely rare. In this report, we describe an adult case of right-side acquired diaphragmatic hernia 15 years after living donor liver transplant. A 27-year-old woman was diagnosed with pancreatic insulinoma with multiple metastases in the liver. To treat the liver failure, she underwent left lobe living donor liver transplant and distal pancreatectomy with splenectomy 3 years after the transcatheter arterial chemoembolization. As a result of the liver abscesses that reached the diaphragm, the delicate diaphragm was injured, which required repair during the transplant surgery. At the age of 46 years, she developed a cough and intermittent abdominal pain. One month later, she went to another hospital's emergency room with complaints of epigastric pain. The computed tomography scan revealed colon and small intestine prolapse into the right thoracic cavity. She was referred to our hospital and underwent surgery the next day. Two adjacent right diaphragm defects were successfully sutured with nonabsorbable sutures. The patient was discharged on postoperative day 11.

[Acquired diaphragmatic hernia in a child with a related liver transplant]. / Priobretennaya diafragmal'naya gryzha u rebenka s rodstvennoi transplantatsiei pecheni.

Acquired diaphragmatic hernia in children is rare. Even less often, this disease occurs after liver transplantation for biliary atresia. In our case, diaphragmatic hernia was acquired, since the patient underwent repeated chest X-ray examinations including CT prior to liver transplantation. There were no signs of hernia. Clinical manifestations of diaphragmatic hernia were absent throughout 9 months after liver transplantation and manifested acutely with combination of symptoms of respiratory failure and intestinal obstruction. Surgical treatment was performed after emergency consultation with attending doctor.

Diaphragmatic hernia after radiofrequency ablation of liver tumor case report and literature review.

INTRODUCTION: Radiofrequency ablation is an effective management modality for irresectable primary and secondary liver tumors. Some serious complications have been reported including diaphragmatic hernia. Diaphragmatic hernia is the protrusion of abdominal viscera into the thoracic cavity through a diaphragmatic defect and usually classified into congenital and acquired. After RFA, diaphragmatic hernia is a rarely-reported complication. CASE REPORT: A 62-year-old male patient, known to have liver cirrhosis on top of hepatitis C virus, presented to the emergency department with generalized abdominal pain and vomiting four months after having a RFA procedure for a liver tumor in segment VIII. Computed tomography showed diaphragmatic hernia with strangulated terminal ileum in the chest. Emergency laparotomy was performed with resection of an ileal segment and creation of double barrel ileostomy. The patient was discharged in a good condition after tolerating oral intake. CONCLUSION: Radiofrequency ablation is an effective modality for management of the primary and secondary liver tumors. Despite its safety, some complication may happen owing to its thermal effect and the associated patients general condition. Many techniques have been described to decrease its thermal injury. Diaphragmatic hernia is a rare complication after RFA. Its clinical presentation may be confusing and it may occur as early as one month after RFA. Its diagnosis depends mainly on computed tomography. Emergency surgical management is the standard approach.

Hernia Diafragmatica Izquierda. Reporte de un caso / Left Diaphragmatic Hernia: A case report

Se presenta un caso clínico de diagnóstico ecográfico de hernia diafragmática realizado a partir de signos de sospecha. La paciente se presenta a control prenatal cursando 18 semanas de gestación, donde se visualiza alteración de la posición de la silueta cardiaca y cambios en la ecogenicidad en el campo pulmonar izquierdo. Se evalúan los signos pronósticos de las hernias diafragmáticas como la presencia de estómago e hígado en tórax y se calcula el índice pulmóncabeza ( LHR). En el presente caso el LHR arrojo un valor de 2,3 %, lo cual indica un buen pronóstico ya que el LHR mayor a 1,4 % se asocia a 93 % de posibilidades de sobrevivir

A clinical case of ultrasound diagnosis of diaphragmatic hernia performed from signs of suspicion is presented. The patient is presented to prenatal control studying 18 weeks gestation, where alteration of the position of the cardiac silhouette and changes in ecogenicity in the left pulmonary field is displayed. The prognostic signs of diaphragmatic hernias such as the presence of stomach and thorax liver and the lung-headed index (LHR) are evaluated. In the present case, the LHR shows a value of 2.3 %, which indicates a good prognosis since the LHR greater than 1.4 % is associated with 93 % possibilities to survive

Mediastinal Serous Cavity Mesothelioma in Two Dogs.

The mediastinal serous cavity (MSC)-well documented but seldom recognized in the caudal mediastinum-is embryologically derived from the omental bursa. Mesothelioma arising from the MSC in two dogs is described. Both dogs presented with acute life-threatening hemorrhagic pleural effusion. Contrast computed tomography revealed a large solitary spherical-to-cylindrical tumor in the caudal mediastinum with variably thick, contrast-enhancing walls with lobular to frond-like proliferations that arose circumferentially and projected internally into a single, variably sized, fluid-attenuating lumen. The wall and lumen corresponded to the serous membrane and serous cavity of the MSC. Surgical exploration confirmed that both tumors arose from the mediastinum. Both had similar histologic findings, and special stains were necessary for definitive diagnosis. The tumor was nonresectable in one dog, and it was euthanized intraoperatively. The other survived 7 mo. An MSC mesothelioma should be considered a possible cause of hemothorax in dogs that may be detected on thoracic radiography and computed tomography. Differential diagnoses include esophageal foreign body or neoplasm, paraesophageal diaphragmatic hernia, MCS empyema, and pulmonary adenocarcinoma, with thoracic computed tomography helping to rule out foreign body and diaphragmatic hernia. For confirmed neoplasms, histochemistry and immunohistochemistry should be performed to differentiate between mesothelioma and pulmonary adenocarcinoma.

Genetics of diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.

Symptomatic hepatothorax presenting 25 years after penetrating thoracoabdominal injury.

Hepatic herniation through the diaphragm is a rare finding. It generally occurs due to a congenital diaphragmatic abnormality or blunt trauma resulting in a diaphragmatic defect. Making the diagnosis is difficult, as there are few definitive clinical signs and chest radiograph (CXR) findings may be non-specific. To our knowledge, only a single case report exists of penetrating right diaphragm injury leading to hepatic herniation. A 42-year-old man presented to the emergency department of a regional hospital with hyperglycaemia and exertional dyspnoea. He was diagnosed with diabetes mellitus type 2. He gave a history of smoking for 15 pack-years, was negative for retroviral disease and had no history of pulmonary tuberculosis. He had no significant surgical history but reported being stabbed with a knife in 1995. The point of entry was below the level of the nipple in the right anterior axillary line. At the time, he was treated with an intercostal drain and discharged home. CXR showed a right-sided chest mass. We considered a differential diagnosis of pulmonary consolidation, diaphragm eventration or hepatothorax. Computerized tomography of the chest and abdomen demonstrated apparent intrathoracic extension of the right liver lobe and partial attenuation of the superior vena cava and right atrium due to a mass effect. The upper border of the liver abutted the aortic arch. Surgical treatment options were discussed. The patient declined surgery and will be followed up as an outpatient.

Diaphragmatic Hernia following Pediatric Liver Transplantation: An Underappreciated Complication Prone to Recur.

INTRODUCTION: Postoperative diaphragmatic hernia (DH) is a rare but potentially life-threatening complication following pediatric liver transplantation (LT). In the current literature, a total of 49 such hernias have been reported in 17 case series. We present eight additional cases, three of which reoccurred after surgical correction, and review the current literature with a focus on recurrence. MATERIALS AND METHODS: The study sample included children (<18 years of age) who underwent LT between June 2013 and June 2020 at five large transplant centers and who subsequently presented with DH. During the study period, a total of 907 LT was performed. Eight DH were recognized, and risk factors were analyzed. RESULTS: For the eight children with DH, the mean age at LT was 28.0 (5-132) months. All patients with a DH received left lateral segment split grafts except one, who received a full left lobe. The mean weight at time of LT was 11.8 (6.6-34) kg. Two patients had a primary abdominal muscle closure, and six had a temporary silastic mesh closure. All eight children presented with a right posterolateral DH. The small bowel was herniated in the majority of cases. Symptoms reported included nausea, vomiting, and respiratory distress. Two patients were asymptomatic, and discovery was incidental. All patients underwent prompt primary surgical repair. Three DH hernias (37.5%) recurred despite successful surgical correction. CONCLUSION: DH following liver transplant with technical variant grafts may be underreported and is prone to recur despite surgical correction. A better understanding of the pathophysiology and more thorough reporting may help increase awareness. Early detection and prompt surgical management are the cornerstones of a successful outcome.

Postnephrectomy diaphragmatic hernia presenting as progressive dyspnoea.

The diagnosis of diaphragmatic hernia (DH) in adults is rare and may be due to missed congenital DH or acquired DH from trauma or as a postoperative complication of certain thoracic and abdominal surgeries. We present a case of a patient with well-controlled chronic obstructive pulmonary disease who presented to the hospital with progressive dyspnoea, 6 months after laparoscopic nephrectomy. The patient was initially misdiagnosed and treated for empyema after plain radiographic images were reported as consolidation with gas locules. Multislice CT imaging undertaken before diagnostic thoracocentesis confirmed the presence of a right-sided DH, which was subsequently surgically repaired in the outpatient setting, given her haemodynamic stability. As patients with DH usually present in the emergency setting, requiring urgent inpatient surgical repair, there are currently no guidelines on the method and urgency of management of asymptomatic or mildly symptomatic, stable patients. Furthermore, while plain radiography is the usual first-line imaging modality used, misdiagnosis of DH as pleural effusion or empyema can lead to unnecessary and potentially harmful procedures such as diagnostic thoracocentesis. These risks can potentially be minimised with early utilisation of multislice CT imaging in patients with high clinical suspicion.

Survival case of acute and severe respiratory distress due to spontaneous tension gastrothorax.

A 20-year-old woman presented with abdominal pain and shortness of breath. She was in obstructive shock with absent breath sounds on the left haemithorax. Chest X-ray showed a large radiolucent shadow with absent lung markings and mediastinal shift to the right side with concerns for tension pneumothorax. Though tube thoracostomy was done on the left side of the chest, column movement was absent. To confirm the diagnosis CT with contrast was done that revealed a huge left side diaphragmatic defect with abdominal contents in the thorax and mediastinal structures are shifted to left. She underwent emergency laparotomy and postoperative period was uneventful.

Strangulated right-sided diaphragmatic hernia presenting and treated as lung empyema: beware of the differential diagnosis.

A 78-year-old man with no surgical history or recent trauma presented to the emergency department with sudden onset right-sided chest pain and dyspnoea. He was admitted under the physicians for investigations and was subsequently diagnosed with empyema of the right thorax. After no improvement with intravenous antibiotics, a chest drain was inserted; no pus was drained. He worsened clinically; a repeated CT scan demonstrated an incarcerated loop of small bowel within the right thoracic cavity secondary to a diaphragmatic hernia (DH). The patient had emergency surgery to remove necrotic small bowel and to lavage the thorax. Strangulated DH should be considered as a differential diagnosis where presentation is unusual and empyema does not improve after initial management.

Uncommon presentation of a recurrent diaphragmatic hernia after pediatric liver transplantation.

DH is a rare but well-recognized complication of PLT. However, a recurrent DH in the setting of PLT has not been reported. We report the case of a child who had previously undergone a DH repair early after PLT and presented more than two years later with atypical findings of severe sepsis and a tender abdominal swelling.

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.

Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same patients. We report a newborn girl with brachytelephalangic chondrodysplasia punctata (BCDP) as well as frontonasal dysplasia, ptosis, bilateral hearing loss, vertebral anomalies, and pulmonary hypoplasia who was found, by whole exome sequencing, to have a de novo pathogenic variant in RAF1 (c.770C>T, [p.Ser257Leu]) and a likely pathogenic variant in SIX2 (c.760G>A [p.A254T]), as well as maternal systemic lupus erythematosus (SLE). This case shows that BCDP is most probably not a diagnostic entity and can be associated with various conditions associated with CDP including maternal SLE.

Diaphragmatic hernias after pediatric liver transplantation: Experience of a high-volume transplant center.

Diaphragmatic hernias (DHs) are rare complications after pediatric liver transplantation (PLT). It is now widely accepted that DHs after liver transplantation (LT) is a pediatric related condition. PLTs (under of age 18) performed between January 2013 and June 2019 at Malatya Inonu University Institute of Liver Transplantation were retrospectively scanned. Study group consisting DHs and a control group were compared. Among 280 PLTs, 8 of them were complicated with DHs (%2.9). Median age of the patients with DH was 3.0 (0.8-9.5) years. Median graft recipient weight ratio was 2.5 (0.9-4.4). Five patients were below 5th percentiles in terms of pediatric weight growth chart at the time of LT. Also, 6 patients were below 5th percentiles in terms of pediatric height growth chart. There was no statistical difference between study and control groups. There are many risk factors mentioned in literature that may be primarily responsible for DHs after PLT. These factors are left lobe and large-for-size grafts, malnutrition, trauma or diathermy of diaphragmatic nerve and vessels and immunosuppressants. In our study, we could not specify any reason that differs in DHs. In our aspect, narrow diaphragma and thorax are exposed to high intra-abdominal pressure from abdomen. Large-for-size grafts, which are specific to children, also may contribute to this affect. Excessive diathermy and trauma to diaphragmatic collaterals may aggravate the risk of DH. More patients are needed to make an exact conclusion, in order to evaluate with comparable study on this aspect.

Diaphragmatic hernia following esophagectomy for esophageal cancer: A systematic review.

PURPOSE: Diaphragmatic hernia following an esophagectomy for esophageal cancer (EC) can be both an early and late complication. The esophageal hiatus within the diaphragm is disrupted during the operation. However, the incidence of Post-Esophagectomy Diaphragmatic Hernia (PEDH) is unknown. PEDH can be life-threatening and surgical treatment is challenging. However, all PEDH do not require surgery. The rate of EC diagnosis is rising. Therefore, esophageal surgery, particularly esophagectomy, is gradually increasing. Undoubtedly, the numbers of PEDH increase as well. METHODS: This review describes the presentation and diagnosis of PEDH after surgery for esophageal malignancy, as well as the management options for PEDH. RESULTS: Fifteen papers regarding PEDH have been published. There are many different surgical approaches to complete an esophagectomy, while there are different approaches to repair PEDH. CONCLUSION: Upper GI surgeons need to have an index of suspicion for PEDH. They must investigate and operate these patients if this complication develops, since an immediate surgery has a high mortality and poor outcome.

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.

BACKGROUND: Congenital scoliosis (CS) is a common vertebral malformation. Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia characterised by multiple vertebral malformations and rib anomalies. In a previous study, a compound heterozygosity for a null mutation and a risk haplotype composed by three single-nucleotide polymorphisms in TBX6 have been reported as a disease-causing model of CS. Another study identified bi-allelic missense variants in a SCD patient. The purpose of our study is to identify TBX6 variants in CS and SCD and examine their pathogenicity. METHODS: We recruited 200 patients with CS or SCD and investigated TBX6 variants. We evaluated the pathogenicity of the variants by in silico prediction and in vitro experiments. RESULTS: We identified five 16p11.2 deletions, one splice-site variant and five missense variants in 10 patients. In vitro functional assays for missense variants identified in the previous and present studies demonstrated that most of the variants caused abnormal localisation of TBX6 proteins. We confirmed mislocalisation of TBX6 proteins in presomitic mesoderm cells induced from SCD patient-derived iPS cells. In induced cells, we found decreased mRNA expressions of TBX6 and its downstream genes were involved in somite formation. All CS patients with missense variants had the risk haplotype in the opposite allele, while a SCD patient with bi-allelic missense variants did not have the haplotype. CONCLUSIONS: Our study suggests that bi-allelic loss of function variants of TBX6 cause a spectrum of phenotypes including CS and SCD, depending on the severity of the loss of TBX6 function.