A case of tetrasomy 9p

A case of mosaic 9p tetrasomy (46,XX/47,XX, + dic[9] [q21]) is reported. Clinical manifestations of the patient were generalized hypotonia, severe mental retardation and characteristic dysmorphic features of 9p tetrasomy. A brief review of the literature is also included.     

Echographia as a symptom of interictal state in an epileptic patient: A case report

Abstract Echographia is a phenomenon in which a patient continuously translates verbal stimuli into writing. We encountered a patient with epilepsy who developed visual echographia during interictal periods. In this case, echographia was observed during two different periods, namely the period of disturbed consciousness after the epileptic seizure and the period of clear consciousness after suppression of the seizures. Disinhibition due to disturbance of the consciousness is considered to have been the cause of echographia in the former period. In the latter period, it is considered that echographia was caused by the release of lower function from suppression of upper function by brain dysfunction, as the after effect of status epilepticus. As echographia can be observed in epileptic patients, attention and careful observation by epileptologists is needed.     

Identification of monocyte chemoattractant protein-1 in senile plaques and reactive microglia of Alzheimer's disease

Abstract It has been shown that human monocytes express monocyte chemoattractant protein-1 (MCP-1), an inflammatry factor, in response to non-fibrillar β-amyloid protein. Reactive microglia and inflammatory factors were reported to be present in β-amyloid deposits (senile plaques) in Alzheimer's disease, suggesting the presence of MCP-1 in senile plaques. To address this issue, we examined MCP-1-immunoreactivity in senile plaques using a mouse monoclonal anti-MCP-1 antibody. Monocyte chemoattractant protein-1 was found immunohistochemically in mature senile plaques and reactive microglia but not in immature senile plaques of brain tissues from five patients with Alzheimer's disease. These findings suggest that MCP-1-related inflammatory events induced by reactive microglia contribute to the maturation of senile plaques.     

Granulocyte functions and changes in ability with age in newborns; Report no. 1: Flow cytometric analysis of granulocyte functions in whole blood

BACKGROUND: Serious bacterial infections occur with higher frequency in the first weeks of life than in other age groups and this may be, in part, related to functional impairment of neonatal granulocytes. The purpose of the present study was to estimate the characteristics of granulocyte function during the neonatal period. METHODS: The expression of adhesive molecules on the surface of granulocytes present in umbilical cord blood and peripheral blood obtained at 5 days and 1 month after birth, H(2)O(2) production and protease activity in granulocytes were studied by comparison with adult blood. RESULTS: Although there were no significant differences observed with respect to the expression of CD11b on the surface of granulocytes between each age group and adults, l-selectin was significantly lower in cord blood as compared with adult blood. Production of H(2)O(2) by granulocytes was significantly lower for cord blood than peripheral blood from 1 month old infants or that from adults in the presence of either phorbol myristate acetate or N-formyl-methionyl-leucyl-phenylalanine stimulation. The intracellular activity of elastase and collagenase within granulocytes exhibited a higher tendency for cord blood as compared with adult blood. CONCLUSIONS: Decreased functions of part of the phagocyte system during early infancy were clearly observed.     

A Case of Choledochocele Associated with Carcinoma of the Pancreas

A-59-year old woman was admitted with lumbago and back pain. An abdominal ultrasonography and abdominal computed tomography demonstrated a tumor of the body of the pancreas and multiple space occupying lesions in the liver. Endoscopic retrograde chorangiopancreatography revealed a 11 mm cystic dilatation of the terminal portion of the common bile duct protruding into the duodenal lumen and an obstruction of the pancreatic duct in the body portion. Celiac artery angiography showed an irregularity in the wall of the splenic artery. In line with these findings, the patient was diagnosed as suffering from choledochocele associated with carcinoma of the pancreas. As she already had multiple metastatic liver tumors, her treatment was limited to amelioration of her symptoms. Increasing stenosis of the common bile duct, however, required endoscopic sphinctomy and endoscopic retrograde biliary drainage. Type 3 Choledochocele of Alonso-Lej's classification is very rare, and only a few cases have been reported in association with malignant bile duct tumors. We believe this case to be the first one in our country linked with carcinoma of the pancreas.     

Granulocyte functions and changes in ability with age in newborns; Report no. 2: Activation of granulocyte functions by cytokines

BACKGROUND: The aim of the present study was to examine the function of granulocytes in newborns from the perspective of granulocyte activation by cytokines. METHODS: Granulocytes were stimulated with tumor necrosis factor-alpha, granulocyte-macrophage colony stimulating factor (GM-CSF) or granulocyte colony stimulating factor, and the reactivity of granulocytes to these substances was then compared between newborns (umbilical cord blood, peripheral blood obtained at age 5 days and at age 1 month) and peripheral blood obtained from adults. In addition, the expression of cytokine receptors on the surface of granulocytes was measured for each age group. RESULTS: The amplification of CD11b expression on the surface of granulocytes and suppression of l-selectin expression were weaker for cord blood regardless of which cytokine was added. In addition, the increases in the activity of intracellular elastase when stimulated with tumor necrosis factor-alpha or GM-CSF were significantly lower for cord blood. Moreover, the expression of GM-CSF receptors and granulocyte colony stimulating factor receptors on the surface of granulocytes was lower for cord blood, and this expression approached the level found in adults as age increased. CONCLUSION: Granulocytes during early infancy exhibit low reactivity to inflammatory cytokines, and this was considered to be one of the factors contributing to the higher incidence of serious bacterial infections in infants.