Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip.
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Biomedical subjects
Publications and source records attributed to I Yoshida.
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Members of the ATP-binding cassette (ABC) transporter superfamily are mutated to cause diseases that include cystic fibrosis, hyperinsulinemia, adrenoleukodystrophy, Stargardt disease and multidrug resistance. We recently isolated a novel human member of ABC transporter superfamily as the candidate transporter for the glucuronide and glutathione-conjugated antitumor agents, and found it highly homologous to the rat cmoat gene. consistent with recent findings of defects in the homologous cmoat gene in two rat models of hyperbilirubinemia (TR- and Eisai), we report two deletions and a missense mutation in the active transport family signature region in the gene in patients with hyperbilirubinemia II/Dubin-Johnson syndrome (DJS; MIM 237500), respectively. These results strongly implicate the cMOAT gene as responsible for the defects in DJS patients.
Between May 1991 and December 1996, bacteriological and virological investigations on the fecal samples from patient of infantile diarrhea (155 cases), or infectious gastroenteritis (1,409 cases) diagnosed with 9 medical institutions in Tama of Tokyo were carried out. Of 1,564 samples, 722 (46.2%) were enteropathogen positive cases, and mixed infection was also observed in about 15% of the positive cases. Among 13 different kinds of enteropathogens identified, the most prevalent one was pathogenic E. coli (20.7%), followed by Campylobacter spp. (10.0%), Rotavirus (8.8%), Salmonella spp. (3.9%), Adenovirus (1.9%), ECHO virus (0.9%), Vibrio parahaemolyticus (0.8%), Poliovirus (0.7%), Aeromonas spp. and Coxsackie B virus (both 0.6%). Furthermore, SRSV was confirmed in 82 out of 619 patients (13.2%) for 2 years (1995 and 1996). In addition, Shigella sonnei (3 cases), S. Paratyphi-A (1 case) and enterohemorrhagic E. coli O157: H7 (2 cases) were also detected. A higher detection ratio was recorded in February, August and November, reflecting respectively by month a highly frequency of Rotavirus, enteric bacteria causing food poisoning and SRSV. With reference to the isolates, the most of pathogenic E. coli belonged to enteropathogenic serotype E. coli (EPEC), and S. Enteritidis was most prevalent serotype.
We employed wedge resection using stapling device for peripheral, clinical stage I lung carcinoma in selected poor-risk patients. Out of 10 patients, four developed local recurrence and one had the second primary in the same lobe resected. Compared with patients having lobectomy with 91% of a recurrence free rate in three years, those who underwent wedge resection had the lower rate of 53%. We conclude that wedge resection using stapling device cannot be an acceptable procedure even for poor-risk patients.
Between 1987 and 1995, 17 patients with genitourinary tuberculosis were treated at Iwate Prefectural Central Hospital. The incidence of newly diagnosed genitourinary tuberculosis was 17 out of 16,363 outpatients (0.1%) during the 9-year period. Twelve patients had urinary tuberculosis and genital as well as urinary organs were affected in 5. Six (35%) patients presented in their fifties and 5 (29%) each in their forties and sixties. Nine (53%) patients had irritative voiding symptoms as the chief complaint. Only 29% had a known history of extra-genitourinaty tuberculosis. In addition to the standard multidrug chemotherapy, nephrectomy was performed in 5 patients and orchiectomy in 2 with epididymal tuberculosis. The incidence of tuberculosis has recently increased in many parts of our country and more attention should be paid to genitourinary tuberculosis.
Magnetic resonance cholangiopancreatography (MRCP) is a noninvasive diagnostic modality capable of producing high-quality images of the biliary tree and pancreatic duct. We evaluated the MRCP capability of depicting the normal pancreatic duct and, based on data achieved, studied the usefulness in the pathologic pancreatic duct. MRCP was performed in 42 patients without any pancreatic lesion and in 162 patients with pancreatic diseases, including congenital anomalies of biliary tree and pancreatic duct. Results were compared with endoscopic retrograde cholangiopancreatography (ERCP) in 93 patients. The visualization of the pancreatic duct and its branches and the presence or absence of dilatation, stenosis, and filling defects were recorded. All images were interpreted retrospectively and blindly by three radiologists. Among control patients, the main pancreatic duct (MPD) was depicted in the head, body, and tail of the pancreas in 41 (98%), 39 (93%), and 31 (74%), and accessory pancreatic duct and secondary branches in the head, body, and tail of the pancreas were depicted in 11 (26%), eight (19%), four (10%), and two (5%) of these patients. Compared with ERCP, MRCP overestimated the stenosis of MPD and underestimated the dilatation of the branches and filling defects in the pancreatic duct in pancreatic diseases, especially pancreatitis. However, MRCP was distinctly advantageous over ERCP in diagnosing mucin-producing tumor of the pancreas, cystic lesions, and depicting the whole, including the part distal to the obstructed site. Four of the eight cases of pancreas divisum, and 10 of the 12 cases of anomalous pancreaticobiliary duct union also were demonstrated. MRCP can accurately demonstrate the normal pancreatic duct as well as various pancreatic duct abnormalities, including congenital anomalies of the biliary tree and pancreatic duct.
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