Anna Simeone

Fatal systemic venous air embolism during endoscopic retrograde cholangiopancreatography.

Hepatic portal venous air embolism is the rarest complication of gastrointestinal endoscopy, resulting from penetration of gas into the portal veins, and may occur during endoscopic retrograde cholangiopancreatography and endoscopic biliary sphincterotomy. The likely mechanism is intramural dissection of insufflated air into the portal venous system through duodenal vein radicles transected during the procedure. Hepatic portal air embolism may be fatal. Cerebral air embolism may also occur. So far 13 cases of air embolism after endoscopic retrograde cholangiopancreatography have been reported, with 4 cases of systemic spread that proved fatal. Death was due to pulmonary air embolism in 2 cases, and cerebral air embolism in another 2. We report on an additional such fatal case, concerning a 78-year-old male patient, who several years previously had undergone surgical gastroduodenal resection with cholecystectomy and papillotomy, and was admitted for recurrent ascending cholangitis secondary to bile duct stones. During the third endoscopic cholangioscopic procedure for removal of bile duct stones, sudden cardiopulmonary arrest occurred. Death was due to massive pulmonary air embolism. Cerebral air embolism was also found. Autopsy was performed. A spontaneous duodenobiliary fistula was found. On the basis of bench radiologic investigation (retrograde suprahepatic venography and anterograde portography), it was demonstrated that the air insufflated during duodenal endoscopy, which entered through the spontaneous duodeno-biliary fistula, penetrated into intrahepatic vein radicles injured secondarily to prolonged impaction of biliary sand and stones and infection, resulting in portal and hepatic venous gas and systemic air embolism.

Ultrasound signs of pulmonary fibrosis in systemic sclerosis as timely indicators for chest computed tomography

Objectives: Systemic sclerosis (SSc) patients in the early stages of pulmonary fibrosis (PF) often have few or no symptoms, normal to borderline pulmonary function tests, and negative chest X-ray (CXR); high-resolution computed tomography (HRCT) is the only reliable means of detecting the early signs of PF. However, thoracic ultrasound (TUS) enables detection of pleural thickening, pleural/subpleural nodules, and other subpleural lung abnormalities across 70% of the subpleural surface. We reassessed concordance between TUS abnormalities and HRCT findings in SSc patients, to see whether TUS pleural line thickness (normally < 3.0 mm) could be used to earmark those with asymptomatic PF for timely HRCT assessment. Method: In total, 175 SSc patients (nine males, 166 females), aged 46.46 ± 15.33 years, were given CXR, TUS, HRCT, echocardiography, and pulmonary function tests. Results: In the 26 patients without HRCT signs of PF, pleural line thickness was ≤ 3.0 mm. In diffuse SSc, 97/137 patients showed pleural line thickening (between 3.0 and 5 mm) and subpleural nodules in 32/97; and 35/137 showed major pleural line thickening (≥ 5.0 mm) with nodules, with good concordance with HRCT patterns indicating lung fibrosis severity. HRCT was normal in 5/137, with pleural line thickness ≤ 3.0 mm. Conclusions: TUS imaging of pleural/subpleural structures can detect ultrasonographic signs of initial PF prior to the onset of respiratory symptoms and function test abnormalities and, together with current criteria, could thereby enable exclusion of PF in SSc patients. Indicating some patients for selective referral to HRCT can thereby delay unwarranted procedures, provided that pulmonary function and TUS images are stable.

Tuberous Sclerosis Complex With Polycystic Kidney Disease of the Adult Type: the TSC2/ADPKD1 Contiguous Gene Syndrome

Although different diseases, tuberous sclerosis complex and autosomal dominant polycystic kidney disease have been seen in association, the molecular basis of this being the proximity of tuberous sclerosis complex 2 and polycystic kidney disease 1 genes on the same chromosome (16p13.3). Therefore, the classic autosomal dominant polycystic kidney disease renal phenotype may occur in the context of tuberous sclerosis complex disease as a result of large deletions involving both the polycystic kidney disease 1 and tuberous sclerosis complex 2 genes. This is known as the tuberous sclerosis complex 2/autosomal dominant polycystic kidney disease 1 contiguous gene syndrome. The criteria for this condition are fulfilled when renal lesions typical for classic autosomal dominant polycystic kidney disease phenotype are associated with tuberous sclerosis complex phenotype. We present a new case of the sporadic form of this genetic disorder. The diagnosis of tuberous sclerosis complex in this patient was established on the presence of major and minor features, and the diagnosis of ADPKD was based on the presence of numerous large roundish renal cysts lined by a nondescript tubular epithelium. Sporadic cases of autosomal dominant polycystic kidney disease and tuberous sclerosis complex do occur. Molecular analysis was not performed because the patients parents refused permission.

Lung transthoracic ultrasound elastography imaging and guided biopsies of subpleural cancer: a preliminary report:

Background Despite the usefulness of elastography in assessing the stiffness/elasticity of tissues, and its proven diagnostic accuracy in thyroid, breast, and prostate cancers, among others, it is not yet applied in transthoracic ultrasound (TUS) scans to investigate lung nodules. Purpose To investigate the potential clinical utility of TUS elastography in diagnosing lung cancer proven by fine-needle aspiration biopsy (FNAB). Material and Methods TUS elastography was performed in 95 consecutive patients (71 men, 24 women; age, 62.84 ± 7.37 years) with lesions suspected of involving the chest wall or the pleura detected on chest X-ray or computed tomography (CT). Patients with pleural effusions were not enrolled, but were further evaluated by pleural fluid cytology. Patients were excluded from the study if a diagnosis had already been made based on sputum cytology and/or bronchoscopic histology (making TUS biopsy unnecessary) or if their lung lesions could not be visualized under standard US. Under FNAB, 34 consolidations were ascribed to pneumonia and 65 to cancer. Under TUS, tissue stiffness, detected using a convex multifrequency 2–8-mHz probe and a MyLab™Twice – ElaXto, was scored from 1 (greatest elasticity) to 5 (no elasticity). Subpleural solid masses (2–5 cm) were initially detected by TUS and subsequently assessed by FNAB. Results Histological diagnoses were: small cell lung cancer (4/61), adenocarcinoma (29/61), squamous cell carcinoma (SCC) (12/61), large cell lung carcinoma (12/61), and lymphomas (4/61). Patients’ age and mass sizes (3.06 ± 0.88 cm) were not significantly associated with any histological type. A significant lower elasticity of SCC (4.67 ± 0.492) was observed versus other types of lung cancer (P < 0.005), and versus pneumonia (2.35 ± 0.48). Conclusion Since only squamous cell lung carcinoma displays the feature of significantly reduced elasticity, and since no clear-cut diagnostic key is yet available, the clinical usefulness of TUS elastography is currently limited with a view to characterizing tumors. Nevertheless, it does enable good non-invasive imaging of lung nodules, providing information on their stiffness, and can improve the accuracy and yield of FNAB.

Giant keloid of left buttock treated with post-excisional radiotherapy

Keloids are defined as excessive scar tissue formation extending beyond the area of the original skin injury and occurring in predisposed individuals. While no single treatment has proven widely effective, several series report excellent outcomes for keloids with post-surgery radiation therapy as described in the literature. We present a patient with recurrent giant keloid of left buttock after several surgical removals, that at physical examination shows the size of 40×22×10 cm in the largest dimension. Patient underwent a surgical excision of gluteal lesion and postoperative radiotherapy using photons at 8 MV of linear accelerator: the total dose delivered was 22 Gy in 11 days, with a daily fraction of 2 Gy. No relapse was showed at 36 months post-therapy. Several methods seem unsatisfactory for preventing keloid recurrence. The combination of surgery and adjuvant radiotherapy seems an excellent strategy to prevent recurrent disease.

Gallbladder and small bowel metastasis of regressive melanoma: a case report

Malignant melanoma development in gastrointestinal (GI) tract may be primary or secondary. Although small bowel, colon and stomach represent common GI sites affected from metastatic cutaneous malignant melanoma (cMM), more than 90% of the cases are identified only during autoptic examinations. Therefore, the diagnosis in a living patient of gallbladder metastasis from cMM is considered extremely rare. We aimed to describe a case of metastatic melanoma involving the gallbladder, the stomach and the small bowel in a 78-year-old male with diffuse abdominal pain and a history of cMM of the back, which was radically resected 4 years before. Abdominal ultrasound showed intracholecystic multiple nodulations. CT, besides confirming the gallbladder nodules, revealed multiple masses in the stomach, duodenum and ileum. Malignant melanoma lesions were confirmed by histopathological and immunohistochemical analyses of bioptic material obtained from endoscopic examination. In patients with history of melanoma, careful inspection of GI tract should be prompted adopting adequate imaging techniques and endoscopy in order to better influence treatment planning and prognosis.