A case of fatal intrahepatic cholestasis with primary AL amyloidosis: is early diagnosis possible?

Immunoglobulin light chain-associated (AL) amyloidosis is a multisystemic disorder characterized by extracellular deposition of immunoglobulin light chain produced by a proliferative plasma cell clone. Although the liver is the major organ involved in AL amyloidosis, hepatic involvement is often clinically asymptomatic and severe intrahepatic cholestasis as the primary manifestation of the disease is rare. A 60-year-old man with severe jaundice, massive ascites and highly elevated alkaline phosphatase was diagnosed with AL amyloidosis by a transjugular liver biopsy. He had undergone a yearly medical check that showed no abnormalities except for mild elevation of serum γ-glutamyltransferase at 1 year before admission. Owing to his poor condition and rapidly progressive liver and renal dysfunction, neither stem cell transplantation nor a combination of chemotherapeutic agents could be applied, and he died 1.5 months after admission. An autopsy revealed amyloid deposition in the systemic organs, and there was no evidence of multiple myeloma. Continuous elevation of γ-glutamyltransferase may be a useful marker for early diagnosis of fatal hepatic amyloidosis.     

Imaging of transplanted islets by positron emission tomography,magnetic resonance imaging,and ultrasonography

While islet transplantation is considered a useful therapeutic option for severe diabetes mellitus (DM), the outcome of this treatment remains unsatisfactory. This is largely due to the damage and loss of islets in the early transplant stage. Thus, it is important to monitor the condition of the transplanted islets, so that a treatment can be selected to rescue the islets from damage if needed. Recently, numerous trials have been performed to investigate the efficacy of different imaging modalities for visualizing transplanted islets. Positron emission tomography (PET) and magnetic resonance imaging (MRI) are the most commonly used imaging modalities for this purpose. Some groups, including ours, have also tried to visualize transplanted islets by ultrasonography (US). In this review article, we discuss the recent progress in islet imaging.     

Clinicopathologic differences of mesenchymal submucosal tumors between the esophagogastric junction and the upper stomach

Objective

We compared the clinicopathologic features between mesenchymal tumors located in the esophagogastric junction (EGJ) and upper stomach, that had been removed surgically.

Methods

Thirty-five patients with a submucosal tumor (SMT) of the stomach, including the EGJ, were surgically treated over the last decade. Of these, 23 patients with SMTs located in the upper third of the stomach (n = 15; UG-group) and EGJ (n = 8; EGJ-group) were studied.

Results

The mean age was younger in the EGJ-group than in the UG-group, and the EGJ-group frequently showed symptoms. Histopathologically, 4 gastrointestinal stromal tumors (GISTs) and 4 leiomyomas were observed in the EGJ-group, while 14 GISTs and one schwannoma were observed in the UG-group (p = 0.0096). Two tumors macroscopically showed a horseshoe or spiral type in the EGJ-group, while all tumors showed a ball/ball-like appearance in the UG-group. Regarding surgical procedures, 7 patients underwent laparotomy in the EGJ-group, while 9 patients underwent laparoscopic surgery in the UG-group. The mean operating time was longer and operative bleeding was greater in the EGJ-group than in the UG-group, respectively (p = 0.0015 and p = 0.0095). Postoperative complications were frequently observed in the EGJ-group. The EGJ-group showed no patients with recurrence and/or metastasis after surgery, while three cases with GISTs had them in the UG-group. In GISTs, the mean mitotic index of the UG-group was relatively more than that of the EGJ-group and a case was classified into the high-risk group, although there was no significance in the risk classification between the two groups.

Conclusion

SMTs included GISTs and leiomyomas in the EGJ, while the majority demonstrated GISTs in the upper stomach. SMTs of the EGJ were removed by a tailored approach to prevent recurrence as well as postoperative complications. The biological behavior of GISTs may be different between the EJG and stomach.     

Removal of broad-based esophageal hemangioma using endoscopic submucosal dissection

Esophageal hemangiomas are rare, representing around 3 % of all benign esophageal tumors. Esophagectomy or tumor enucleation has been performed to treat esophageal hemangiomas, but recently the use of endoscopic therapy, such as endoscopic mucosal resection or endoscopic injection sclerotherapy, is increasing. We describe removal of a hemangioma using endoscopic submucosal dissection. We also briefly discuss the literature concerning clinicopathologic aspects and management of esophageal hemangioma.     

Electrocautery therapy combined with oral steroid administration for refractory corrosive esophageal stenosis prevents restenosis

A 61-year-old female with refractory corrosive esophageal stenosis repeatedly underwent endoscopic balloon dilation at another hospital; however, no improvements were observed in the esophageal stenosis. Consequently, she had been on a liquid diet for the previous three years. She was admitted to our department for further treatment. A radial incision was made, by use of the SB knife Jr, for a pinhole-like stenosis in a short segment 39 cm from the incisor, and dilation was safely performed by use of a CRE balloon dilator. Subsequently, prednisolone was orally administered to prevent re-stenosis. This was followed by a favorable clinical course.     

PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population

Objective

Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome‐wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility genes associated with rheumatoid arthritis (RA) in a Japanese population. The aim of this study was to elucidate whether the 18 genes that displayed associations or suggestive associations for RA in our previous study are associated with SSc in Japanese.

Methods

We performed an association study that included 415 patients with SSc and 16,891 control subjects, followed by a replication study that included 315 patients and 21,054 control subjects. The 18 markers reported to display association with RA were analyzed for their associations with SSc in the first study, and 5 markers were further analyzed in the replication study. The inverse variance method was used to evaluate the associations of these markers with SSc in a combined study.

Results

In the phospholipase D4 gene (PLD4), rs2841277 displayed a significant association with SSc in Japanese patients (P = 0.00017). We observed that rs2841280 in exon 2 of PLD4 was in strong linkage disequilibrium with rs2841277 and introduced an amino acid alteration. We also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population.

Conclusion

We determined that PLD4 is a novel susceptibility gene for SSc in Japanese, thus confirming the involvement of PLD4 in autoimmunity. Associations between SSc and TNFAIP3 or IRF8 were also detected in our Japanese population. SSc and RA appear to share relatively large proportions of their genetic backgrounds.