Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.

Many mutations of the NF1 gene have been reported in patients with neurofibromatosis type 1 (NF1); however, there have been no documented NF1 gene mutations in Japanese NF1 patients. In the present study, we used the polymerase chain reaction (PCR) and DNA sequencing analysis to characterize the NF1 gene in a 53-year-old Japanese patient with NF1 who suffered from neurofibroma, pheochromocytoma, and gastrointestinal stromal tumor (GIST). Direct sequence analyses revealed a single base substitution in the splicing donor site of intron 6 (IVS6 888+1, G --> A) in one NF1 allele, resulting in an altered splice site (ss) in the mutated allele.

Is fenestration a safe treatment for adult polycystic liver disease?: A report of refractory complications.

We report a 67-year-old man with highly symptomatic polycystic liver disease. Fenestration was selected to treat symptoms because the cysts were scattered diffusely and the normal liver volume was limited. Although this patient was relieved from symptoms of liver cysts consequently, several severe postoperative complications including disseminated intravascular coagulation, respiratory failure, liver failure, and biliary leakage occurred resulting in a 6-month postoperative hospital stay.

Microwave coagulation therapy for a liver tumor involving the root of the left hepatic vein of the residual liver after extended right hepatectomy.

A 54-year-old man had received low anterior resection for rectal carcinoma and extended right hepatectomy for a metastatic liver tumor. One year later, imaging studies disclosed a metastatic liver tumor in segment 2 of the liver. The residual left hepatic vein was completely invaded by the tumor from the root of the hepatic vein to the confluence of several branches by intraoperative ultrasonography.

Tumor thrombus in the splenic vein originated from gastric carcinoma that produced alpha-fetoprotein.

A 72-year-old man was referred with an endoscopic diagnosis of Borrmann 2 type advanced gastric cancer. Further examination revealed tumor thrombus in the splenic vein and high serum level of alpha-fetoprotein without liver disease. Intraoperative ultrasonography revealed that tumor thrombus originated from gastric cancer extended to the splenic vein through the left gastric vein.

Prediction of pancreatic fistula by amylase levels of drainage fluid on the first day after pancreatectomy.

Background/aims: We investigated whether it would be useful to monitor amylase levels of drainage fluid after pancreatic surgery for prediction of pancreatic fistula.

Methodology: Twenty-six cases in which amylase levels of drainage fluid were determined after pancreatic surgery, were divided into 14 cases who did not develop pancreatic fistula and 12 cases who developed pancreatic fistula. Changes in amylase levels of sera and urine as well as drainage fluid were monitored.

[Complete remission of esophageal undifferentiated carcinoma with nedaplatin and 5-FU chemotherapy and endoesophageal brachytherapy].

The patient was a 74-year-old female. Type 1 undifferentiated carcinoma (non-small cell type) was detected in the middle of the thoracic esophagus in August 1999. Although the lesion was diagnosed as T2, N0, and Stage II, the patient was judged to be a poor risk, inoperable case because of a complex past history of renal and respiratory dysfunctions, and dysbasia.

Hepatocellular carcinoma in a patient with acromegaly and high serum levels of insulin-like growth factor I: report of a case.

A 64-year-old woman with high serum levels of growth hormone, insulin-like growth factor-I (IGF-I), and alpha-fetoprotein resulting from partially treated acromegaly was found to have a tumor under the left diaphragm. The patient also had a history of type C viral hepatitis. Laparotomy revealed that the tumor was fixed to the diaphragm and connected to the liver and spleen.

[Assessing liver function by magnetic resonance imaging two-dimensional phase-shift flow measurement of portal venous blood flow after oral intake of glucose].

We have already reported that the ratio of portal venous flow 30 min after oral intake of glucose 75 g to that before intake (PVFR30), measured using pulsed-Doppler ultrasonography (US), correlated significantly with other indicators of liver function and that it could be used to estimate hepatic function before surgery, including liver resection. In this study, to assess the disadvantages of pulsed-Doppler ultrasonography, PVFR30 was measured using two-dimensional (2D) phase-shift (PS) magnetic resonance imaging (MRI). PVFR30 was measured in 17 patients and 7 volunteers: 13 with liver cirrhosis (LC) and 11 without LC (non-LC).