Suspected Case of Combined Immunodeficiency Autopsy Case

An autopsy case of combined immunodeficiency of 3 year 11 months old boy is presented. He had stomatitis, chronic protracted diarrhea, fever, growth retardation which are characteristic symptomes in severe combined immunodeficiency (SCID). IgA was low and IgG and IgM decreased towards the terminal stage. SK-SD skin reaction was negative and DNCB sensitized skin reaction was negative indicating the lack of delayed type of hypersensitivity. Compared to the typical case of primary immunodeficiency, the degree of abnormality of humoral and cellular immune functions is milder in this case. Autopsy revealed the remaining lymph nodes and histologically formation of lymphoid follicles was not distinct and lymphocyte depletion in thymic-dependent area was seen. These lesions varied in degrees depending on the location within the lymph nodes. Thymus weighed 2.2g and had Hassal\u27s corpuscles with calcification. These findings are somewhat different from the typical case of primary immunodeficiency. We consider this case as suspected case or borderline case of combined immunodeficiency by correlation of clinical and histopathological aspect. Generalized cytomegalic inclusion disease is this direct cause of death

Relationship between the ability to perform the sit-to-stand movement and the maximum pelvic anteversion and retroversion angles in patients with stroke

[Purpose] The purpose of this study was to investigate the relationship between the ability to perform the sit-to-stand movement and the maximum pelvic anteversion and retroversion angles of patients. [Subjects] Thirty-two stroke patients (66.7±7.6 years) (>3 months post-stroke) who were able to sit unsupported and 50 age-matched healthy subjects participated in this study. The stroke patients were classified into two groups according to the sit-to-stand movement test: the group that was able to stand up (the stand-able group) (18 persons) and the group that was unable to stand up (the stand-unable group) (14 persons). [Methods] Pelvic anteversion and retroversion maximum angles were measured by a manual goniometer attached to an inclinometer. [Results] The maximum pelvic anteversion angles were −1.6 ± 5.0°, 1.2 ± 2.8°, and −12.4 ± 6.1° in the control group, the stand-able stroke group, and the stand-unable stroke group, respectively. A significant main effect of group was found. An angle discriminating between the two stroke groups was found: the maximum anteversion angles in the stand-able group were distributed above −5°. [Conclusion] The maximum pelvic anteversion angle was significantly smaller in the stand-unable group than in the stand-able and control groups.出版者照会後に全文公

慢性膵炎の診断における超音波内視鏡の有用性

金沢大学附属病院消化器内科金沢大学がん研究所We report usefulness of endoscopic ultrasonography (EUS) for the diagnoses of chronic pancreatitis (CP). We evaluated EUS features of hyperechoic foci, hyperechoic strand, lobular out gland margin, lobularity, cyst, stone, ductal dilatation, side branch dilatation, duct irregularity, hyperechoic duct margins, atrophy, localized swelling in cases with CP (30 definite and 6 probable) diagnosed by computed tomography (CT) or endoscopic retrograde cholangiopancreatography (ERCP). Hyperechoic foci, hyperechoic strand, lobularity, hyperechoic duct margins in definite or probable CP were recognized in more than 80 % cases. Lobular out gland margin was observed in 14 (47 %) of 30 cases with definite CP, although none with probable CP (P = 0.06). In conclusions, hyperechoic foci, hyperechoic strand, lobularity, hyperechoic duct margins are useful for screening of CP, and lobular out gland margin would be reliable finding in definite CP. 目的：慢性膵炎の診断における超音波内視鏡 (EUS) の有用性につき検討した。 対象と方法：対象は内視鏡的逆行性胆道膵管造影 (ERCP)、CTにて慢性膵炎と診断され、EUSを施行した36例 (確診30例、準確診6例) で、hyperechoic foci, hyperechoic strand, lobular out gland margin, lobularity, cyst, stone, ductal dilatation, side branch dilatation, duct irregularity, hyperechoic duct margins, atrophy, localized swellingの各種EUS所見について評価し、retrospectiveに検討した。 結果：慢性膵炎確診例、準確診例では、いずれもhyperechoic foci, hyperechoic strand, lobularity, hyperechoic duct marginsが、80％以上の症例でみられた。lobular out gland marginは確診例で47%に認めたが、準確診例ではみられず、確診例で多い傾向が見られた (p=0.06)。 結語：hyperechoic foci, hyperechoic strand, lobularity, hyperechoic duct marginsは慢性膵炎の拾い上げに有用であり、lobular out gland marginは慢性膵炎の確診所見になる可能性が示唆された

Diagnostic utility of aberrant methylation of tissue factor pathway inhibitor 2 in pure pancreatic juice for pancreatic carcinoma

医薬保健研究域医学系The tissue factor pathway inhibitor 2 (TFPI-2) is a Kunitz-type serine proteinase inhibitor. Recently, the aberrant methylation of TFPI-2 was detected frequently in pancreatic carcinoma (PCa) tissues but not in normal pancreatic tissues. We analyzed the aberrant methylation of TFPI-2 in the pure pancreatic juice (PPJ) aspirated endoscopically from patients with various pancreatic diseases. Using the highly sensitive methylation-specific polymerase chain reaction (MSP) and quantitative MSP (Q-MSP) assay, we investigated the aberrant methylation of TFPI-2 in nine human PCa cell lines and in the PPJ from patients with PCa, intraductal papillary mucinous neoplasms (IPMN) and chronic pancreatitis (CP). The incidence of aberrant TFPI-2 methylation was seven (77.8%) of nine PCa cell lines by Q-MSP. In cell lines, the expression of TFPI-2 mRNA by quantitative reverse transcription-polymerase chain reaction showed an inverse correlation to the aberrant methylation of TFPI-2. The incidence of aberrant TFPI-2 methylation in the PPJ was 21 (58.3%) of 36 PCa patients, three (17.6%) of 17 IPMN and one (4.8%) of 21 CP by MSP assay. Using a suitable cut-off value of 2.5 according to the receiver operating characteristic curve, the incidence of aberrant TFPI-2 methylation in the PPJ by real-time MSP was 18 (62.1%) of 29 PCa patients, one (5.1%) of 17 IPMN and three (14.3%) of 21 CP, respectively. The incidence of quantitative TFPI-2 hypermethylation in the PPJ with PCa was significantly higher than that with IPMN (P < 0.001) or CP (P < 0.001). Moreover, the aberrant methylation rate of TFPI-2 in the PPJ was 100%, as observed (6/6) in the PCa patients with liver metastasis, and 86.7% (26/30) in stages IVa + IVb of PCa by Q-MSP assay. These results suggest that promoter methylation of TFPI-2 in the PPJ may be a useful marker in the diagnosis and progression of PCa using an endoscopically feasible approach. © 2006 Japanese Cancer Association

Usefulness of endoscopic ultrasonography for the diagnoses of chronic pancreatitis

Division of Medical Oncology and Surgical Oncolog

Diagnostic utility of aberrant methylation of tissue factor pathway inhibition 2 in pure pancreatic juice for pancreatic carcinoma

Division of Medical Oncology and Surgical Oncolog

Advanced hepatocellular carcinoma treated effectively with irinotecan via hepatic arterial infusion followed by proton beam therapy

金沢大学医学部附属病院がん高度先進治療センターWe report a 48-year-old man with hepatocellular carcinoma (HCC) treated with hepatic arterial infusion (HAI) chemotherapy followed by proton beam therapy. The HCC lesion in this patient was 88 mm in diameter, with portal vein tumor thrombosis in the right lobe of the liver. He was first treated with 5-fluorouracil, cisplatin, and isovorin, administered by HAI, combined with interferon-α, and he was subsequently treated with epirubicin and mitomycin-C administered by HAI. However, no definite efficacy of either of these treatments was observed. Then, after 3 weeks\u27 continuous administration of irinotecan by HAI, the tumor size decreased to 68 mm in diameter. However, 3 months after reduction of the tumor, the tumor had become enlarged to 100 mm in diameter and intrahepatic metastases were prominent. Angiographic findings indicated that the HCC was fed not only from the right hepatic artery but also from the left gastric and right and left subphrenic arteries. After rearrangement of the arteries, and 3 months\u27 continuous HAI chemotherapy with irinotecan, plus hyperthermia, the tumor size had decreased to 50 mm in diameter. The reduction rate of the main tumor according to the Response Evaluation Criteria in Solid Tumors was 43%; therefore, the efficacy of this treatment was judged as a partial response. Two months after reduction of the tumor, the patient\u27s serum alpha-fetoprotein (AFP) level was elevated, and so docetaxel was administered by HAI instead of irinotecan. The liver tumors showed gradual enlargement during the administration of docetaxel, although the AFP level was suppressed. Proton beam therapy was instituted and the liver tumors showed necrosis after this therapy. The patient died of hepatic failure and distant metastases 6 years after the onset of HCC. As far as we know, this is the first case report of HCC treated effectively with irinotecan administered by HAI followed by proton beam therapy in which tumor suppression and the long-term survival of the patient were observed. © 2009 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases

HISTOCHEMICAL AND ULTRASTRUCTURAL OBSERVATION OF THE PIGMENT IN PIGMENTED LIPID HISTIOCYTES OF CHRONIC GRANULOMATOUS DISEASE

Pigmented lipid histiocytes (PLH) of chronic granulomatous disease (CGD) were examined by histochemistry and electron microscopy. The yellowish brown pigments were stainable with Sudan III and IV even in paraffin sections, and the sudanophilia was kept after oxidation with peracetic acid followed by methylation. In addition, the granules were positive to Gomori\u27s chromium hematoxylin stain, 0.02% Nile blue sulfate stain and leuco-malachite green stain. Ultrastructural observation showed numerous intracytoplasmic granules in variable shapes and sizes measuring up to 4.8μ in diameter, with various electron densities. From these results, the pigment in PLH of CGD is comparable to a ceroid-like substance. The nature of the pigment and the pathogenesis of PLH are also discussed

Suspected Case of Combined Immunodeficiency Autopsy Case

An autopsy case of combined immunodeficiency of 3 year 11 months old boy is presented. He had stomatitis, chronic protracted diarrhea, fever, growth retardation which are characteristic symptomes in severe combined immunodeficiency (SCID). IgA was low and IgG and IgM decreased towards the terminal stage. SK-SD skin reaction was negative and DNCB sensitized skin reaction was negative indicating the lack of delayed type of hypersensitivity. Compared to the typical case of primary immunodeficiency, the degree of abnormality of humoral and cellular immune functions is milder in this case. Autopsy revealed the remaining lymph nodes and histologically formation of lymphoid follicles was not distinct and lymphocyte depletion in thymic-dependent area was seen. These lesions varied in degrees depending on the location within the lymph nodes. Thymus weighed 2.2g and had Hassal's corpuscles with calcification. These findings are somewhat different from the typical case of primary immunodeficiency. We consider this case as suspected case or borderline case of combined immunodeficiency by correlation of clinical and histopathological aspect. Generalized cytomegalic inclusion disease is this direct cause of death