Masataka Maruyama

Severe steatosis resulted from anorexia nervosa leading to fatal hepatic failure

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ENDOSCOPIC BAND LIGATION WITH A WATER‐JET SCOPE FOR THE TREATMENT OF COLONIC DIVERTICULAR HEMORRHAGE

Although lower gastrointestinal bleeding generally has a less severe course and stops spontaneously in most cases without therapeutic intervention, some patients require endoscopic, surgical, or angiographic treatment depending on the nature of the bleeding. We applied endoscopic band ligation (EBL) with a water‐jet scope to bleeding colonic diverticula and evaluated the efficacy and safety of EBL retrospectively. Five consecutive patients were diagnosed as having colonic diverticular hemorrhage, and were treated with EBL at St Lukes International Hospital in Tokyo from June 2009 to August 2009. Comorbid diseases, usage of anti‐platelet agents, hemoglobin level on admission, procedural time, complications such as perforation and abscess formation, and rebleeding after EBL were retrospectively evaluated. In all cases, EBL achieved successful immediate hemostasis without any procedural complications. In four of five cases, bleeding colonic diverticula were everted after EBL. The mean length of hospital stay after EBL was 5 days (range 4–8 days). No patient exhibited clinical evidence of further bleeding during the mean follow‐up period of 3 months (range 2–4 months), and no further intervention was needed after EBL. EBL with a water‐jet scope is considered to be a safe and effective endoscopic treatment for colonic diverticular hemorrhage.

Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.

Ornithine transcarbamylase (OTC) is the second enzyme of the urea cycle and catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. OTC deficiency is an X-linked semidominant disorder and is the most common inborn error of the urea cycle. Clinical presentations in female heterozygotes are highly diverse, ranging from severe hyperammonemia in the neonatal period to even being asymptomatic in life, depending on the residual OTC activity in the liver. We experienced an adult woman case with OTC deficiency who developed hyperammonemia-induced encephalopathy. The patient was diagnosed as having OTC deficiency when she was 7 years old. Although the OTC activity at diagnosis was reduced to 1160μmol/h/g liver, compared to 5933 899 in normal controls, she had been asymptomatic since then with several medications. At 22 years old, however, she developed upper respiratory infection and became febrile, followed by hyperammonemia (483μg/l) and consciousness disturbance, and was admitted to our hospital (Fig. 1). Blood chemistry as well as imaging studies failed to show presence of any liver disease. She had no recent history of alcohol or drug intake except for medications for OTC deficiency. With administration of intravenous fluid and 20g/day arginine hydrochloride, plasma ammonia level, body temperature, and consciousness soon returned to normal. She was discharged on the 11th hospital day without any complications. We obtained informed consent and analyzed the OTC gene of the patient. Genomic DNA was extracted from whole peripheral blood of the patient, and the OTC gene was amplified by polymerase chain reaction (PCR) using oligonucleotides originally reported by Matsuura et al.1 and slightly modified according to the sequence of OTC gene from GenBank (AL607040.8). Amplified PCR products were subcloned and sequenced using CEQ 8000 genetic analysis system (Beckman Coulter, Fullerton, CA, USA). Sequencing analysis of all exons revealed three novel nucleotide mutations in exons 1, 3, and 5 (Figure 2). In exon 1, encoding the leader peptide, we detected a missense mutation, GCA to ACA at codon 12, resulting in replacement of amino acid from Ala to Thr. The leader peptide is required for import of synthesized precursor peptides into mitochondria matrix. It is known that arginine is critical for mitochondrial transport.2 In this patient, four arginines in the leader peptide were conserved, and thus it is assumed that capability for mitochondrial import has not been completely abrogated by this substitution, coincident with the fact that OTC activity was maintained at almost 20% of normal controls. Another missense mutation, AGT (Ser) to GGT (Gly) at codon 90, was noted in exon 3. We also detected a mutation, CAA to CAG at codon 145 in exon 5, with no amino acid replacement. According to a recent review of mutations in the human OCT gene,3 all these mutations detected in our patient have not been reported previously. Clinical presentation of OTC deficiency is highly diverse, and thus OTC deficiency should be considered in the differentiation of hyperammonemia in otherwise healthy adults. Atsushi Tanaka, Tadashi Wada, and Masataka Maruyama Department of Gastroenterology, St. Luke’s International Hospital, Tokyo, Japan