A case of middle-aged onset sialidosis type I]

We reported a patient with middle-aged onset sialidosis type I. A 52-year-old Japanese man was referred to our hospital because of dysarthria, involuntary movement of his extremities and gait disturbance since the age of 46 years. On admission, neurological examination revealed scanning speech, action myoclonus, cerebellar ataxia and cherry-red spots. Vacuolated lymphocytes were found in peripheral blood. Brain 18F-2-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG PET) showed decreased glucose metabolism in the cerebellum. Enzymological analysis using his skin fibroblasts revealed primary deficiency of sialidase activity. Sialidase gene analysis identified compound heterozygotes for base substitusions of 239T-to-C and 649G-to-A, which resulted in amino acid alterations of P80L and V217M, respectively. These mutations have been reported in Japanese sialidosis type II (P80L) and I (V217M). Further studies are required to reveal effects of gene mutations on residual enzyme activities and phenotypes.     

Laryngeal Resistance before and after Minor Surgery: Endotracheal Tube versus Laryngeal Mask Airway™

Background: The placement of an endotracheal tube (ETT) may promote laryngeal swelling, which is an important cause of upper airway obstruction after extubation. The authors hypothesized that laryngeal swelling after ETT placement increases laryngeal resistance and tested that hypothesis by comparing postoperative laryngeal patency between patients with ETT placement and those with a Laryngeal Mask Airway(TM) (LMA(TM)).

Methods: Fourteen adult patients who underwent elective minor surgeries were randomly allocated to two groups whose airway would be managed through ETTs (the ETT group) or LMAs(TM) (the LMA(TM) group) during the surgery. While maintaining at sevoflurane 1 minimum alveolar concentration, the authors measured laryngeal resistance before and after surgery, during both spontaneous breathing and mechanical ventilation under complete paralysis. In addition, they endoscopically measured the vocal cord angle under complete paralysis.

Results: In association with marked swelling of the vocal cords, the vocal cord angle significantly decreased after surgery in the ETT group, whereas the angle did not change in the LMA group. Laryngeal resistance during mechanical ventilation significantly increased only in the ETT group. Laryngeal resistance during spontaneous breathing significantly increased after surgeries in both groups.     

Epidemiological characteristics of acute pulmonary thromboembolism in Japan.

AIM: In Japan, acute pulmonary thromboembolism (APTE) is still rare, but the number of patients with APTE has been steadily increasing. It is important for early diagnosis and early management of APTE to recognize epidemiological characteristics of this condition. METHODS: We investigated the epidemiological characteristics of 252 patients with APTE who were admitted to our institutions between 1975 and 2001. APTE was more prevalent in women that in men. It was observed the most in the age group between 50s to 70s, especially in women. Many patients had prolonged immobilization, recent major operation, obesity, or cancer, as risk factors for venous thromboembolism. One hundred and thirty-eight patients developed APTE in hospital; 60 patients were in Department of Internal Medicine, 28 in General Surgery, 15 in Orthopedics, 15 in Obstetrics and Gynecology, and 20 in other services. RESULTS: Among 58 patients with malignancy, 43% had cancers in digestive organs, 21% in gynecological, and 17% in urological. Among 61 patients who were examined for the presence of thrombophilia, 13 patients had inherited thrombophilia (8 protein C deficiency, 4 protein S deficiency, and 1 antithrombin III deficiency) 11 had antiphospholipid antibodies which indicated thrombophilia. Five out of the above 61 patients (8%) had no obvious risk factors including thrombophilia. CONCLUSION: The findings in our patients were almost the same as those in Western patients, except for some points. These results might be useful to establish a preventive approach for APTE in Japan.     

Long-Term Outcome of Adult-to-Adult Living Donor Liver Transplantation for Post-Kasai Biliary Atresia

Our objective was to analyze problems in the perioperative management and long-term outcome of living donor liver transplantation (LDLT) for biliary atresia (BA). Many reports have described the effectiveness of liver transplantation (LT) for BA, particularly in pediatric cases, but little information is available regarding LT in adults (> or =16 years old). Between June 1990 and December 2004, 464 patients with BA underwent LDLT at Kyoto University Hospital, of whom 47 (10.1%) were older than 16 years. In this study, we compared the outcomes between adult (> or =16 years old) and pediatric (<16 years old) patients. The incidence of post-transplant intestinal perforation, intra-abdominal bleeding necessitating repeat laparotomy and biliary leakage was significantly higher (p < 0.0001, <0.001 and <0.001, respectively) in adults. Overall cumulative 1-, 5- and 10-year survival rates in pediatric patients were significantly higher (p < 0.005) than in adults. Two independent prognostic determinants of survival were identified: a MELD score over 20 and post-transplant complications requiring repeat laparotomy. Outcome of LDLT in adult BA patients was poorer than in pediatric patients. It seems likely that LT will be the radical treatment of choice for BA and that LDLT should be considered proactively at the earliest possible stage.     

Potentiating effects of extraluminal oxyhemoglobin to intraluminal 5-hydroxytryptamine in isolated canine internal carotid arteries

The interaction between oxyhemoglobin (oxyHb) and 5-hydroxytryptamine (5-HT) was investigated in an experimental model of isolated canine internal and common carotid arteries with insertion of stainless steel cannulae. Extraluminal application of 10(-5) M oxyHb induced marked and long-lasting vasoconstriction in the internal carotid but not in the common carotid arteries. The 5-HT-induced vasoconstriction was potentiated significantly in both the internal and common carotid arteries. These potentiations were not influenced by the presence or absence of endothelium, a finding which was confirmed by vascular responses to intraluminal acetylcholine. It is concluded that the interaction between extraluminal oxyHb and intraluminal 5-HT may be one of the possible etiological factors behind the chronic phase of vascular spasm following subarachnoid hemorrhage.     

Malignant Rhabdoid Tumor of the Breast: A Case Report

A 66-year-old woman time of 10 days. One month after radicalmastectomy, there was local recurrence, followed by multiplepulmonary metastases, and the patient died of respiratory failure5 months after surgery. The gray-white-colored tumor measured13x12x;10 cm, and its border was well defined. The tumor wascomposed of diffusely growing round or polygonal cells withvesicular nuclei, prominent nucleoli, and ample cytoplasm containingeosinophilic inclusions. Lymph node involvement was widespread.Both vimentin and keratin were clearly demonstrated by immunohistochemicalstaining. Ultrastructural studies revealed that the MRT cellscontained cytoplasmic whorls of intermediate filaments.