Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis.

OBJECTIVES: To report the clinical features of two Japanese brothers with familial leptomeningeal amyloidosis, showing a causative gene abnormality of a transthyretin (TTR) variant Asp18Gly, previously reported only in a Hungarian family. METHODS: The authors reported on a 42 year old man (patient 1) and his 45 year old brother (patient 2), both suffering from subarachnoid haemorrhage (SAH) without and with hydrocephalus, respectively. DNA sequences of the TTR gene were determined in both patients and the patients' clinical features described. A surgical biopsy of the leptomeninges was performed on patient 1. RESULTS: DNA sequence analyses demonstrated the glycine-for-aspartate substitution at position 18 of the TTR variant. Both patients revealed pyramidal tract signs and cerebellar ataxia. Audiometric studies showed bilateral, mild sensorineural hearing loss in the patients whose cerebrospinal fluid (CSF) protein levels increased. T1 weighted MRI after contrast administration showed diffuse leptomeningeal enhancement along the Sylvian fissures and over the surface of the brainstem, cerebellum, and spinal cord. Gradient echo T2* weighted MRI showed superficial siderosis mainly in the cerebellum. A biopsy of the leptomeninges was obtained from the spinal cord of patient 1. While performing the biopsy, the authors observed the varicose, elongating, and fragile veins on the dorsal surface of the spinal cord. Immunohistochemical study revealed marked deposits of TTR derived amyloid on his leptomeninges. CONCLUSIONS: This is the second report of familial leptomeningeal amyloidosis with an Asp18Gly TTR gene mutation, clinically causing only CNS symptoms. Repeated SAH from fragile veins on the dorsal surface of the spinal cord seemed to induce superficial siderosis of the CNS. So far, there have been two reliable hallmarks leading to the diagnosis of leptomeningeal amyloidosis: diffuse leptomeningeal enhancement on contrast MRI and greatly increased CSF protein content. This study has contributed a third hallmark: the presence of superficial siderosis is useful in diagnosing leptomeningeal amyloidosis.

Novel three-channel and three-slit stiffening tube for total colonoscopy.

BACKGROUND AND STUDY AIMS: Because of the recent marked reduction in the diameter of colonoscopes, existing stiffening tubes require modification of their tips and hardness. The aim of this study was to develop a new stiffening device with a flexible soft tip which closely fitted the colonoscope. It was also designed with three slits, to improve the fit of the stiffening tube itself to the colonoscope and to extend the effective colonoscope length, and equipped with three channels for endoscopic treatment. MATERIALS AND METHODS: The standard stiffening tube which has been used routinely and a novel three-channel, three-slit (TCTS) stiffening tube were employed alternately (in 160 and 161 patients, respectively). The two tubes were compared for severity of pain experienced by patients, ease of intubation, and complications. RESULTS: Among the 160 patients examined with the standard stiffening tube, one (0.63 %) complained of mild anal pain on intubation and intubation was incomplete in two (1.25 %), because of resistance in the rectum and sigmoid colon. Among the 161 patients examined with the TCTS stiffening tube, three patients who presented early in the series (1.86 %) developed mild proctal redness and erosions, but incomplete intubation or serious complications were not recorded. CONCLUSION: The TCTS stiffening tube was as easy to use as the standard stiffening tube, and is considered to be both safe and useful.

CT-guided percutaneous laser disk decompression (PLDD) for cervical disk hernia.

OBJECTIVE: Percutaneous laser disk decompression (PLDD) is an effective treatment for bulging or protruding disk. The aim of this study was to present a method of PLDD for cervical disk hernia under CT guidance and to evaluate the efficacy and safety of this procedure. MATERIALS AND METHODS: Seven patients with radiculalgia caused by cervical disk hernia were treated overnight by PLDD. A laser fiber was inserted through an 18 G needle into the target disk under CT guidance. A Nd-Yag laser (1,064 nm) was used for ablation. A CT scan was obtained every 60 joule (J) at the slice of the target disk to visualize the vaporized area during the procedure. The Japan Orthopedic Association (JOA) score of cervical radiculopathy (full score 15) and MacNab criteria were used for assessment of treatment response. RESULTS: Puncture of the needle to the target disk was safely performed under CT guidance. The total dosage of laser ablation ranged from 120 to 500 J (average, 266 J). The overall success rate according to MacNab criteria was good in all cases. No complications were observed in our series. CONCLUSION: The CT-guided technique provides safe, accurate PLDD for cervical disk hernia. PLDD for cervical disk hernia shows promise in the management of radiculalgia.

[Percutaneous cryosurgery for liver tumors].

A new cryoprobe developed in our department makes it possible to perform percutaneous cryoablation for small liver tumors. This cryoprobe is placed into each lesion using an ultrasonic guidance technique. In this study there were 10 patients with hepatocellular carcinoma and 5 patients with liver metastases from colorectal carcinoma. In 6 cases the tumor size was below 2 cm, in 6 cases between 2 and 3 cm, and in 3 cases over 3 cm. Using a cryoprobe of 3 mm in diameter, each lesion was frozen using liquid nitrogen for 15 or 20 minutes then thawed for 10 minutes, and repeated. The ice ball was found to enlarge to 3 cm in 20 minutes and 5 cm in 60 minutes experimentally. Six cases were CR, 5 PR, 2 NC and 2 PD. After cryoablation, liver function did not change and there were no complications. However, as the size of the ice ball was small (about 3 cm), this method was insufficiently effective in some cases. Percutaneous cryoablation using this probe should be performed for tumors smaller than 3 cm.

A novel approach to endoscopic colorectal mucosal resection using a three-channel outer tube and multiple forceps: an experimental assessment.

BACKGROUND AND STUDY AIMS: Colorectal endoscopic mucosal resection (EMR) has limitations both anatomically and technically when it is done using the conventional snare wire method. The aim of this study was to develop a new method and instrument for colorectal EMR. METHODS: A total of 21 EMR procedures were done using ten surgical specimens. Saline was injected into the normal submucosa of freshly resected colorectal specimens to prepare a pseudotumor. EMR was performed experimentally by employing a three-channel outer tube with three forceps and a colonoscope with a needle-type precutting knife. This method was assessed in terms of safety and the size of the resected specimens. RESULTS: Perforation occurred only twice in the initial stage of this study. The size of the specimens resected by EMR was 28-39 mm (long diameter 34.8+/-3.11), by 22-28 mm (short diameter 25.8+/-2.07). CONCLUSION: This method can achieve safety and en bloc mucosal resection to the submucosal layer. This novel approach may be promising for clinical application as a new form of endoscopic surgery.

[A case of sinus pericranii manifesting as a parietal midline mass].

A case of sinus pericranii was reported. A 5-year-old boy was admitted to our hospital, complaining of scalp mass located at the midparietal region. He was noticed to have had it since 3 years before. The mass decreased in size under mild compression, and during standing position, but increased in size due to lying down. Magnetic resonance imaging (MRI) demonstrated a mass with mixed signal intensity on the T1 weighted image and high signal intensity on the T2 weighted image. Gd-DTPA study showed irregular enhancement. Cerebral angiogram showed no communication between the mass and the superior sagittal sinus. Neither did direct injection of contrast medium into the mass revealed any communication. 3D-CT demonstrated three tiny bone defects beneath the mass. Open surgery revealed that the mass existed between the galea aponeurotica and the periosteum, which had a small communication with the emissary vein. Pathological examination showed a multiple lobular cyst with endothelial wall lining. This case report highlighted the fact that sinus pericranii with minimal communication with the dural sinus can be treated by removal of the mass and closure of the cranial bone abnormalities with bone wax without craniotomy.

Quintuple carcinomas with metachronous triple cancer of the esophagus, kidney, and colonic conduit following synchronous double cancer of the stomach and duodenum.

A patient who had undergone radical gastrectomy for synchronous gastric cancer (T(1)N(0)M(0), stage I) and duodenal cancer (Tis, stage 0) in November 1987 was found to have esophageal cancer in November 1994, and underwent radical thoracolaparotomy at our hospital (T(1)N(0)M(0), stage I). After follow-up for about 3.5 years, renal cancer was detected in April 1998, and radical nephrectomy was performed (T(1)N(0)M(0), stage I). Two years later, in April 2000, the patient was found to have a polypoid lesion in the colonic conduit used for reconstruction after esophagectomy, and endoscopic mucosal resection was performed (Tis, stage 0). The patient remains under careful follow-up, including observation of the colonic conduit and the residual large intestine.

Idiopathic hypertrophic cranial pachymeningitis with perifocal brain edema--case report.

A 51-year-old female presented with an extremely rare case of idiopathic hypertrophic cranial pachymeningitis manifesting as markedly thickened frontotemporal meninges with expanding perifocal edema. Magnetic resonance imaging with gadolinium revealed enhancement of the thickened dura mater protruding into the brain parenchyma accompanied by focal edema causing a mass effect. Histological examination of a biopsy specimen revealed thickened dura with infiltrating lymphocytes. Serological and immunological tests were normal. No inflammatory response or evidence of malignant tumors was observed. The patient was treated with predonisolone, resulting in marked improvement of the mass effect. High-dose steroid therapy appears to be effective for intracranial pachymeningitis associated with expanding perifocal brain edema.

Trigeminal neuralgia associated with tentorial agenesis and temporal lobe herniation--case report.

A 22-year-old female presented with an extremely rare case of trigeminal neuralgia associated with tentorial agenesis. The pulsating pain in her left maxillary region persisted for an abnormally long time and had no trigger zone. The pain later spread to the periorbital region. Coronal magnetic resonance imaging revealed left medial temporal lobe herniation caused by tentorial agenesis. The herniated temporal lobe, which had distorted the superior cerebellar artery, was causing compression of the trigeminal nerve. Her condition improved following microvascular decompression surgery. Tentorial agenesis should be considered as a cause of atypical pulsating facial pain, especially in younger patients.

Enhancement of B7-1 (CD80) expression on B-lymphoma cells by irradiation.

Irradiation of A20.2J mouse B-lymphoma cells enhanced their antigen-presenting ability to induce interleukin-2 (IL-2) production by 42-6A T cells specific for ovalbumin (OVA)323-339/I-Ad. Irradiated and fixed A20.2J cells were more efficient antigen-presenting cells (APC) to present OVA323-339 peptide than the unirradiated and fixed cells. Irradiation selectively increased the expression of B7-1 molecules, but not of the major histocompatibility complex class II molecules, B7-2, lymphocyte function-associated antigen-1, or intracellular adhesion molecule-1. Irradiation of A20.2J cells with 100 Gy followed by overnight incubation was optimal for the enhancement of B7-1 expression. Anti-B7-1 monoclonal antibody inhibited the irradiation-induced enhancement of APC function. Irradiation of A20.2J cells induced the accumulation of B7-1 mRNA. Thus, it was concluded that the enhancement of APC function by irradiation was due to the up-regulation of B7-1 molecules through the accumulation of its mRNA. Although partial inhibition of protein synthesis has been shown to enhance the accumulation of B7-1 mRNA and its expression, irradiation did not decrease the protein synthesis in A20.2J cells. The incubation with irradiated A20.2J cells stimulated unirradiated A20.2J cells to increase B7-1 expression, suggesting that irradiation of A20.2J cells induced expression or secretion of some molecule(s) to enhance B7-1 expression.

Small cell neuroendocrine carcinoma of the rectum.

Poorly differentiated small cell neuroendocrine (NE) carcinoma of the colon and rectum is a rare primary epithelial malignancy at this location. A case of a highly aggressive NE tumor of small cell type, combined with non-invasive well-differentiated papillary adenocarcinoma in villous adenoma is reported. The patient died rapidly with massive and progressive liver metastasis. The tumor cells were argyrophilic and diffusely immunoreactive for neuronspecific enolase and synaptophysin. Ultrastructural analysis disclosed NE-type cored granules in most of the small tumor cells. NE tumors of the colon and rectum are briefly reviewed.

[Intermittent intra-arterial chemotherapy using subcutaneously implanted reservoir for hepatocellular carcinoma and liver metastasis of colorectal carcinoma].

Hepatectomy has been performed as a treatment for hepatocellular carcinoma (HCC) and metastatic liver carcinoma. The prognosis has improved, but it is not sufficient. In our department hepatic arterial infusion chemotherapy using subcutaneous implanted reservoir has been undertaken in 21 of 66 patients who underwent hepatectomy in hepatocellular carcinoma and 13 of 30 in liver metastasis of colorectal carcinoma since 1986. There was no significant difference between the group with and without arterial infusion chemotherapy in HCC but there was a significant difference in metastasis of colorectal carcinoma. In unresectable cases, intra-arterial chemotherapy was undertaken, but there was no significant difference. On the other hand, 26 of 58 cases receiving arterial infusion chemotherapy have shown complications.

Preoperative and postoperative cytokines in patients with cancer.

BACKGROUND: Changes in tumor necrosis factor-alpha (TNF-alpha), interleukin-1 alpha (IL-1 alpha), interleukin-1 beta (IL-1 beta), interleukin-6 (IL-6), and granulocyte macrophage-colony-stimulating factor (GM-CSF) were investigated before and after operation in patients with hepatocellular carcinoma (HCC), metastatic liver carcinoma, and gastrointestinal carcinoma. RESULTS: Serum levels of TNF-alpha, IL-1 alpha, and IL-1 beta were high in patients with liver carcinoma (HCC and metastatic liver carcinoma) before operation in comparison with those of normal controls (P less than 0.01). In patients with gastrointestinal carcinoma, serum levels of cytokines, except those of TNF-alpha, were the same as in patients with liver carcinoma. The level of TNF-alpha in patients with gastrointestinal carcinoma was low compared with that in patients with liver carcinoma. Within 1 day after operation, the peak level of TNF-alpha was observed at 15 hours, IL-1 alpha at 18 hours, IL-1 beta at 21 hours, and IL-6 at 24 hours after operation. Subsequently, these cytokine levels peaked again: TNF-alpha at 48 hours, IL-1 alpha at 72 hours, IL-1 beta at 120 hours, and IL-6 at 168 hours after operation. GM-CSF levels increased gradually after operation. Moreover, in HCC, serum levels of TNF-alpha were high in patients with recurrence compared with those without recurrence (P less than 0.01). The difference in IL-1 alpha and IL-1 beta levels between patients with recurrence and those without recurrence can be regarded as significant (P less than 0.01). CONCLUSION: These results suggest that TNF-alpha, IL-1, IL-6, and GM-CSF may play an important role in the pathogenesis of cancers; TNF-alpha may be especially important as a tumor marker in HCC and metastatic liver carcinoma.

[Perfusion patterns of 99mTc-MAA injected into subcutaneously implanted port--evaluation with SPECT].

Single photon emission computed tomography (SPECT) was performed in conjunction with 99mTc-macroaggregated albumin (Tc-MAA) hepatic arterial perfusion scintigraphy, and Tc-MAA activity was measured quantitatively. Three patients with colorectal liver metastasis were examined. In the first patient, the ratio of radioactivity in the area of the tumor was 3 times that in the surrounding liver. In the second patient, the right hepatic artery was ligated and Tc-MAA was injected into the left hepatic artery. Radioactivity in the right lobe was as much as in the left lobe. In the third patient, the left hepatic artery was ligated and Tc-MAA was injected into the right hepatic artery. Radioactivity was higher in the left lobe than in the right lobe. Previous reports suggested that Tc-MAA distribution accurately reflects the drug distribution injected into a regional blood supply. SPECT is useful in quantitative evaluation of Tc-MAA distribution.

[Basic studies of intra-arterial hyperthermic treatment].

Basic studies on intra-arterial hyperthermic treatment (1AHT) were conducted in rabbits implanted with VX2 tumor inside the thigh. For the purpose of determining the best temperature, saline added Adriamycin (ADM) (2 mg/body) that heated up to a predetermined objective temperature was injected. At 3 days after administration, the intratumor concentration of ADM (ITCA) and blood laboratory data were obtained. ITCA of the 53 degrees C group (1.13 +/- 0.41 micrograms/g) was significantly higher than those in the 23 degrees C group. In the 58 degrees C group, BUN, CPK, and creatinine were elevated. These data suggested that the best temperature of IAHT was about 53 degrees C. The treated rabbits were divided into 4 groups (heated saline added ADM, heated saline, non-heated saline added ADM, control) and the tumor growth rates after IAHT were investigated. The tumor size of the groups treated by heated saline was inhibited compared with that in the other two groups. There was no elevation of intratumor temperature in spite of IAHT. At 2 days after the IAHT, patho logically there were vacuolar degeneration in the arterial endothelial cells near the tumor, and narrowing of involved artery. These results suggest that the antitumor effect by IAHT is related with blood supply without hyperthermic effect.

Serologic findings in hepatic ascariasis: a case report.

A 56-year-old Japanese woman underwent partial hepatectomy for intrahepatic cystic masses. Before operation, the patient had been diagnosed as liver abscess due to Ascaris infection serologically. The excised hepatic lesions consisted of encapsulated old abscesses, with a few calcified parasitic ova and numerous Charcot-Leiden's crystals microscopically seen in necrotic exudate. However, no parasitic worms were found in the cystic cavity. The eggs in the tissues were indistinguishable from other helminthic ova morphologically, but stained positively for Ascaris antigens by the indirect immunoperoxidase method. The results indicate that the serologic diagnosis of intrahepatic ascariasis may be feasible, practical, and reliable.

[Significance of radionuclide examination in hepatic arterial infusion chemotherapy using implantable reservoir].

Technetium 99m macroaggregated albumin (Tc-MAA) perfusion scintigraphy has been performed during hepatic arterial infusion chemotherapy using implantable reservoir. A total of 40 radionuclide (RI) studies were performed on 25 patients with liver metastasis of colorectal origin. Of 40 RI studies, 12 (30%) showed impaired liver perfusion. Three studies showed no perfusion of the liver, 3 increased radiotracer accumulations at liver hilus, 2 extrahepatic distributions, 2 catheter occlusions, 1 extravasation and 1 unilobar distribution. The accumulation of Tc-MAA in the tumor was graded from Grade I (tumor uptake decreased or similar relative to liver) to Grade III (tumor uptake remarkably increased). The response to chemotherapy was evaluable in 14 cases. A case with Grade I resulted in NC. Of 6 cases with Grade II, 1 resulted in MR, 3 in NC and 1 in PD. Of 8 cases with Grade III, 2 resulted in PR, 1 in MR and 5 in NC. Tumor response was observed in cases showing increased uptake of Tc-MAA. SPECT was performed in 7 cases, and revealed that hepatic tumors were hypervascular. We concluded that RI examination reveals not only hepatic perfusion, but also tumor microcirculation.

[Hepatic arterial infusion chemotherapy using implantable reservoir in colorectal liver metastasis].

Hepatic arterial infusion chemotherapy was performed in 47 cases with colorectal liver metastasis. Methods of hepatic arterial cannulation were as follows: operative insertion of polyvinyl chloride catheter in 12 cases, angiographic insertion of polyethylene catheter via the left high brachial artery in 20 cases and operative implantation of reservoir in 15 cases. Mean durations of chemotherapy were 31 days, 25 days and 115 days, respectively. Chemotherapies were discontinued because of complications and catheter troubles in 7 cases (58%), 8 cases (40%) and 6 cases (40%), respectively. Regression of tumor size was observed only in the group with reservoir. Prolonged therapy is achievable by use of the reservoir. But catheter troubles, including obstruction, infection, extravasation and pseudoaneurysm, are still observed in the course of chemotherapy. Radionuclide study using 99m Tc macroaggregated albumin is useful to detect catheter troubles. We stressed that the proper management of reservoirs is important.