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.

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.

BACKGROUND: Right-side diaphragmatic hernia is a very rare cause of bowel obstruction and strangulation in adults, which is usually a congenital disorder.
METHODS: A- 55-year-old male presented to the emergency department of our hospital complaining of abdominal pain, nausea, vomiting, abdominal distension, fever, and constipation for 4 days. On physical examination, the patient was fibril, toxic, tachycardic, and hypotensive. The patient had a distended abdomen with exaggerated bowel sounds, abdominal tenderness, guarding, and rigidity mostly in the right upper quadrant. There were some degrees of tempanicity on percussion. The digital rectal examination was normal with no evidence of impacted stool.
CONCLUSIONS: Patients with a diaphragmatic hernia frequently present with manifestations of internal herniation, incarceration, obstruction, ischemia from strangulation, or perforation. The patient may present with respiratory symptoms such as dyspnea, absence of breath sounds in the thorax, or abdominal symptoms such as abdominal pain and bowel dilatation.
CONCLUSIONS: Diaphragmatic hernia, which is a rare case, should be included in the differential diagnosis of small bowel obstruction to preclude complications.

Congenital diaphragmatic hernias (CDH) occur as a result of genetic and environmental factors that occur during the early stages of fetal development. Overall, CDH are considered to be quite rare and are often discovered when patients are neonates. The patient in this case underwent a routine colonoscopy for high-risk polyps but then developed the sudden onset of cramping abdominal pain and PO (per os) intolerance. She was found to have a right-sided diaphragmatic hernia which ultimately required operative intervention. Retrospectively, a close review of prior imaging revealed a potential diaphragm defect. Post-colonoscopy diaphragmatic hernias are very rare and right-sided ones are rarer, making this case report an important addition to the literature.

Diaphragmatic hernia (DH) is an uncommon cause of small bowel obstruction (SBO), particularly in the absence of trauma. This rarity can pose a diagnostic challenge, leading to significant delays in treatment and increased morbidity. We report a case of a 79-year-old male patient who presented with acute signs of small bowel obstruction. The patient had no reported history of trauma. Computed tomography (CT) of the abdomen revealed a diaphragmatic hernia causing small bowel obstruction. The patient underwent an initial laparoscopy, which was converted to laparotomy, small bowel resection, and subsequent hernia repair. The patient made a good recovery, and two weeks after his initial presentation, he was discharged home. This case highlights the importance of considering diaphragmatic hernia in differential diagnosis for small bowel obstruction, even in the absence of trauma.

BACKGROUND: This case report describes a case of Müllerian duct cyst that occurred in a male retroperitoneum. The cyst lesion is rare and complicated with diaphragmatic hernia. Müllerian duct-derived cyst is a rare developmental disorder that is more common in male pelvic tissues and rare in the retroperitoneum. We investigated the important role of computerized tomography (CT) and magnetic resonance imaging (MRI) in preoperative diagnosis and disease prediction of this condition.
METHODS: A 25-year-old male was found to have an abnormal occupying lesion in the left diaphragm in imaging examinations, usually healthy with no obvious clinical symptoms. X-ray examination showed a circular, high-density shadow near the left diaphragm. CT scan showed a soft tissue density shadow resembling a tumor in the left adrenal area, irregularly protruding into the chest cavity, with uneven density. MRI examination showed an irregular elongated T1 and T2 signal shadow in the left adrenal area. T2 fat suppression showed high signal intensity with unrestricted diffusion. Robotic-assisted laparoscopic surgery showed left retroperitoneal tumor resection. The patient recovered well postoperatively and had no recurrence after discharge follow-up.
CONCLUSIONS: The preclinical symptoms of retroperitoneal Müllerian cysts complicated by diaphragmatic hernia in young men are difficult to distinguish, and it is difficult to diagnose other similar cysts with imaging. The method of combined CT and MRI diagnosis guides the endoscopic robot-assisted minimally invasive surgery for excision of cysts to achieve accurate diagnosis and treatment of such diseases.

Congenital mixed hiatal hernia is a disorder that combines features of both sliding and paraoesophageal hernias. The precise incidence of congenital mixed hiatal hernia during the pediatric and neonatal period remains uncertain, making diagnosis challenging within this age cohort. This case presents a 15-day-old female with an 8% postnatal weight loss and apost-feeding vomiting. An upper gastrointestinal series, computer tomography, and upper endoscopy revealed a mixed hiatal hernia. The patient underwent a laparoscopic herniorrhaphy and Nissen fundoplication achieving successful resumption of complete oral feeding before discharge. Diagnosis and management of this condition in neonates remain challenging due to its rarity and variable clinical presentations. This report emphasizes the importance of early recognition, accurate diagnosis, and tailored management strategies in the neonatal period. Further research, with a collaborative effort between pediatricians and surgeons, is needed to refine diagnostic criteria, establish evidence-based management approaches, and improve outcomes for affected children.

The diaphragm is a musculoaponeurotic structure separating the thoracic and abdominal cavities. It plays important roles in both respiration and maintaining gastrointestinal function. A careful consideration of anatomy should be taken during surgical procedures to minimize injury to this crucial organ.

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UNASSIGNED: In hospital attendance, 75% of diaphragmatic hernias occur on left as opposed to 25% on the right side. Right side hernias are associated with abdominal injuries, mainly the liver. However, right-side injuries are frequently underdiagnosed due to the complexity of associated injuries and high mortality rates. The aim of this study was to perform a retrospective analysis of records from our clinical experience to investigate demographics, TM, diagnosis, morbidity, and mortality associated with right sided TDH. These findings may provide insights into improving the clinical management of patients with this serious injury, potentially reducing morbidity and mortality rates.
UNASSIGNED: Retrospective analysis of the medical records of patients from the trauma database of the Division of Trauma Surgery at University of Campinas in 32-year period was performed. Only records of patients with right sided TDH were included in the analysis.
UNASSIGNED: Blunt trauma was the most common mechanism. Diagnoses were made by laparotomy in eight cases, all these cases were hemodynamically unstable. TDH grade III injury occurred in most cases followed by grade IV. Liver injuries were present in almost all cases, most of them high grade, followed by colon and small bowel. Extra-abdominal associated injuries with a predominance of femur fractures, pelvic fractures and hemothorax. Post-operative complications were associated with length of stay in intensive care unit. Pneumonia was the most frequent complication. The overall mortality rate was 16%.
UNASSIGNED: Most diagnoses were performed through laparotomy and not by radiologic exams, due to hemodynamic instability on admission. There is underdiagnosis of right-side TDH due to the high-energy trauma mechanism with high grade associated injuries and mortality on pre-hospital.