Intestinal Behçet's disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report.

BACKGROUND: Gastrointestinal lesions, which sometimes develop in Behçet's disease (BD), are referred to as intestinal BD. Although rare, intestinal BD can be accompanied by myelodysplastic syndrome (MDS) with abnormal karyotype trisomy 8, which is refractory to immunosuppressive therapy. Pulmonary alveolar proteinosis is a rare lung complication of BD and MDS. Herein, we present an extremely rare case of intestinal BD presenting with MDS and several chromosomal abnormalities, followed by secondary pulmonary proteinosis. CASE PRESENTATION: A 58-year-old Japanese woman with a 3-year history of genital ulcers and oral aphthae was admitted to our hospital. The patient developed abdominal pain and persistent diarrhea. Colonoscopy revealed multiple, round, punched-out ulcers from the terminal ileum to the descending colon. Intestinal BD was diagnosed and the patient was treated with colchicine, prednisolone, and adalimumab. However, her symptoms were unstable. Bone marrow examination to investigate the persistent macrocytic anemia revealed the presence of trisomy 8, trisomy 9, and X chromosome abnormalities (48, + 8, + 9, X, i(X) (q10) in 12 out of the examined 20 cells). Based on her hypoplastic bone marrow, the patient was diagnosed with low-risk MDS (refractory anemia). At the age of 61, the patient developed pneumonia with fever and diffuse ground-glass opacities on the lung computed tomography (CT). Chest high-resolution CT and histopathology via transbronchial lung biopsy revealed the presence of pulmonary alveolar proteinosis (PAP). These findings combined with the underlying disease led to the diagnosis of secondary PAP. CONCLUSIONS: Secondary pulmonary proteinosis may accompany intestinal BD with MDS and several chromosomal abnormalities. Physicians should pay attention to lung complications, such as PAP, in patients with intestinal BD complicated by MDS. Genetic abnormalities may be associated with the development of such diseases.

Immunoglobulin A Vasculitis in a Japanese Patient with Complete Familial Mediterranean Fever Carrying MEFV Exon 10 Mutation.

Immunoglobulin A (IgA) vasculitis is a systemic small-vessel vasculitis involving the skin, kidney, joints, and gastrointestinal tract. Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by periodic fever, peritonitis, pleuritis, or arthritis. It is well known that FMF may coexist with vasculitis, especially small and medium vessel vasculitis. Here we present a Japanese male patient with FMF who later developed IgA vasculitis and a relapsing disease course. A 51-year-old Japanese male was referred because of upper abdominal pain, arthralgia, and bilateral purpura of the lower limbs. He fulfilled the criteria for IgA vasculitis, which was successfully treated by corticosteroid and immunosuppressive therapy. He had a medical history of periodic fever since the age of 10 years old. The Mediterranean fever (MEFV) gene analysis revealed that he was heterozygous for M694I and E148Q mutations. Colchicine therapy resolved his periodic febrile attacks. To our knowledge, coexistence of FMF with IgA vasculitis has not been reported in East Asia, including Japan. Our case suggests that MEFV gene exon 10 mutations could be related to the development of IgA vasculitis and affects its clinical course.

[Adult case of hypoganglionosis of the colon with a skip lesion: a case report].

A 77-year-old woman was referred for severe constipation and abdominal distension which had lasted for 1 month. A computed tomography (CT) scan and a colonoscopy revealed segmental stricture in the transverse and descending colons. After no improvement in her symptoms was observed with conservative therapy, we performed a left hemicolectomy. Histopathological examination revealed a reduction in ganglion cells in the Meissner's and Auerbach's plexuses and hypoganglionosis was diagnosed. In addition, a diagnosis of acquired hypoganglionosis was made because this case was adult onset, and there has been no recurrence.

[Hemobilia caused by hepatic artery pseudoaneurysm after endoscopic biliary stenting for malignant hilar biliary strictures:a case report].

A 78-year-old female presented at our hospital with hilar biliary strictures caused by gallbladder cancer. Metal stents with a dilated diameter of 8mm were placed in a side-by-side fashion in the left and right hepatic ducts. However, 3 months after stenting, the patient experienced a sudden onset of hematemesis. Emergent enhanced abdominal angiography revealed a right hepatic arterial pseudoaneurysm that had likely ruptured, thus causing the hemobilia. Probable association of biliary stents with pseudoaneurysm was also demonstrated. Selective angiography revealed bleeding from the pseudoaneurysm into the biliary stents, which was controlled by coil embolization. The patient was subsequently discharged on hospital day 15.

[Nonalcoholic steatohepatitis after pancreatoduodenectomy with rapid progression of hepatic fibrosis: a case report].

A 64-year-old woman who had undergone pancreatoduodenectomy for intraductal papillary mucinous carcinoma 10 months previously was referred to our department complaining of ascites and general malaise. Abdominal computed tomography (CT) showed a markedly decreased hepatic CT value. Liver biopsy revealed nonalcoholic steatohepatitis. Treatment with nutritional control and pancreatic enzyme supplements improved liver function. Exocrine pancreatic enzyme insufficiency from chronic pancreatitis is considered to be a cause of rapid progression of hepatic steatosis.

Case of presymptomatic aceruloplasminemia treated with deferasirox.

Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35-year-old man who was diagnosed with aceruloplasminemia without neurological manifestation despite the accumulation of iron in the brain and liver. To prevent the development of neurodegenerative disorder related to iron toxicity, iron depletion therapy was performed. Iron chelator deferasirox was effective in reducing serum ferritin level and to prevent the progression of the disease.

[A case of liver metastasis occurring 20 years after the resection of an ileal neuroendocrine tumor].

A 70-year-old man with multiple liver tumors was referred to our hospital in 2011. He was histologically diagnosed with a neuroendocrine G1 tumor (World Health Organization classification) following biopsy. He had a history of surgery for an ileal neuroendocrine tumor in 1991. Therefore, the liver tumors were diagnosed as metastases from the ileal neuroendocrine tumor. The patient was successfully treated with hepatic artery embolization, radiofrequency ablation, and octreotide. This report suggests that long-term follow-up with diagnostic imaging may be required for patients with ileal neuroendocrine tumors, even 20 years after the primary surgery.

A case of gallbladder neuroendocrine carcinoma complicated by ectopic adrenocorticotropic hormone syndrome and resulting in rapid fetal outcomes due to sepsis.

A 52-year-old woman presented to our hospital with chief complaints of upper abdominal bloating and lower leg edema. Computed tomography (CT) revealed liver metastasis from a gallbladder tumor. This tumor was diagnosed as neuroendocrine carcinoma (NEC) on performing a biopsy. Physical examination revealed a moon face. Blood tests revealed hypokalemia and high levels of adrenocorticotropic hormone (ACTH) and cortisol. Dexamethasone suppression test revealed that cortisol secretion was not suppressed, and the patient was diagnosed with gallbladder NEC and ectopic ACTH syndrome (EAS). Metyrapone was administered to suppress cortisol production; however, she developed septic shock due to cellulitis in the lower leg and died on the 16th day of admission. A pathological autopsy was performed, which revealed disseminated intravascular coagulation and acute respiratory distress syndrome as the cause of death. Only a few cases of EAS due to NEC originating from the gallbladder have been reported. The patient reported here succumbed shortly after diagnosis, thereby highlighting the challenges in treating gallbladder NEC complicated by EAS.

Neurofibromatosis Type 1 with a Giant Diffuse Plexiform Neurofibroma Invading the Liver.

Plexiform neurofibromas (PNs) occur in approximately 50% of patients with neurofibromatosis type 1 (NF1). PNs are rare in the abdominal cavity and especially rare in hepatobiliary lesions. A 31-year-old man with NF1 had a tumor extending along the celiac artery, superior mesenteric artery, and intrahepatic portal vein. We diagnosed him with diffuse PN based on liver tumor biopsy findings and the tumor form. Because the tumor had invaded along the intrahepatic portal vein, surgical resection was deemed difficult, and the patient was followed up with imaging studies. The patient remained asymptomatic without tumor growth.

IgG4-related hepatic inflammatory pseudotumor in a patient with serum IgG4-negative type 1 autoimmune pancreatitis.

IgG4-related disease (IgG4-RD) can cause heterogeneous lesion in various organs. Serum IgG4 levels are useful in monitoring patients with IgG4-RD; however, when it is negative, more careful observation is required. A 58-year-old woman who had been diagnosed with serum IgG4-negative type 1 autoimmune pancreatitis (AIP) 3 years prior visited our hospital for the evaluation of a liver tumor. She had visited a nearby hospital 1 month prior with complaints of a swelling in her right neck, and histological examinations were suggestive of IgG4-related sialadenitis. A positron emission tomography scan showed fluoro-deoxy-glucose accumulation in her right liver lobe; therefore, she was referred to our hospital. Liver tumor biopsy showed inflammatory cell infiltration and storiform fibrosis, without histological findings indicative of a malignancy. Many IgG4-positive cells were detected in immunostaining; thus, an IgG4-related hepatic inflammatory pseudo-tumor was diagnosed. After increasing in steroid dosage, the patient remained recurrence-free with 2 years. To our knowledge, this is the first report of mass-forming IPT for serum IgG4-negative type 1 AIP. Occasionally, IgG4-related IPT may appear in the periphery of the liver, and serum IgG4-negative cases should be more carefully observed because serum IgG4 is not an indicator.

Transarterial embolization for ruptured pancreaticoduodenal artery aneurysm due to segmental arterial mediolysis combined with median arcuate ligament syndrome: a case report.

A 75-year-old female with a history of Parkinson's disease treatment and hypertension presented at the emergency section with sudden onset of right abdominal pain. Contrast-enhanced computed tomography revealed beaded irregular stenosis and dilation of the superior mesenteric artery (SMA) and an aneurysm in the branch of the pancreaticoduodenal artery (PDA) that communicates with the common hepatic artery and SMA. Additionally, a hematoma had formed in the retroperitoneal space, and extravasation of contrast medium from the pancreaticoduodenal artery aneurysm (PDAA) into the hematoma was observed. The celiac artery (CA) was compressed by the median arcuate ligament; stenosis of the CA at its origin and dilation on the distal side were observed. Based on the imaging findings, it was diagnosed that PDAA was ruptured, SMA developed segmental arterial mediolysis (SAM), and CA developed median arcuate ligament syndrome (MALS). The ruptured PDAA was thought to be caused by SAM combined with MALS. Transcatheter arterial embolization (TAE) was performed for the ruptured PDAA. To the best of our knowledge, there have been no reports of TAE for a ruptured PDAA caused by SAM and MALS. After TAE, the PDAA did not re-rupture.

Autoimmune hepatitis complicated by adult-onset Still's disease during treatment with tocilizumab: A case report from acute onset to recurrence.

The characteristics of liver dysfunction due to adult-onset Still's disease are not specific. Differentiating from autoimmune hepatitis is important in deciding whether to continue corticosteroid therapy, and also in terms of management of cirrhosis and surveillance of hepatocellular carcinoma. Liver biopsy is thought to be the most important determinant for differential diagnosis.

New-onset dermatomyositis following COVID-19: A case report.

Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Most of the infected individuals have recovered without complications, but a few patients develop multiple organ involvements. Previous reports suggest an association between COVID-19 and various inflammatory myopathies, in addition to autoimmune diseases. COVID-19 has been known to exacerbate preexisting autoimmune diseases and trigger various autoantibodies and autoimmune disease occurrence. Here we report a case of complicated COVID-19 with anti-synthetase autoantibodies (ASSs) presenting with skin rash, muscle weakness, and interstitial lung disease (ILD) and subsequently diagnosed with dermatomyositis (DM). A 47-year-old Japanese male patient without any previous history of illness, including autoimmune diseases, presented with a high fever, sore throat, and cough. Oropharyngeal swab for SARS-Cov-2 polymerase chain reaction tested positive. He was isolated at home and did not require hospitalization. However, his respiratory symptoms continued, and he was treated with prednisolone (20 mg/day) for 14 days due to the newly developing interstitial shadows over the lower lobes of both lungs. These pulmonary manifestations remitted within a week. He presented with face edema and myalgia 4 weeks later when he was off corticosteroids. Subsequently, he presented with face erythema, V-neck skin rash, low-grade fever, and exertional dyspnea. High-resolution computed tomography of the chest showed ILD. Biochemical analysis revealed creatine kinase and aldolase elevations, in addition to transaminases. Anti-aminoacyl tRNA synthetase (ARS) was detected using an enzyme-linked immunosorbent assay (170.9 U/mL) (MESACUP™ (Medical & Biological Laboratories, Japan), and the tRNA component was identified as anti-PL-7 and anti-Ro-52 antibodies using an immunoblot assay [EUROLINE Myositis Antigens Profile 3 (IgG), Euroimmun, Lübeck,Germany]. The patient was diagnosed with DM, especially anti- synthase antibody syndrome based on the presence of myositis-specific antibodies, clinical features, and pathological findings. The present case suggests that COVID-19 may have contributed to the production of anti-synthetase antibodies (ASAs) and the development of de novo DM. Our case highlights the importance of the assessment of patients who present with inflammatory myopathy post-COVID-19 and appropriate diagnostic work-up, including ASAs, against the clinical features that mimic DM after post-COVID-19.

Gastric mucosal cancer smaller than 7mm can be treated with conventional endoscopic mucosal resection as effectively as with endoscopic submucosal dissection.

BACKGROUND/AIMS: Recently, endoscopic submucosal dissection (ESD) has been accepted for the treatment of gastrointestinal mucosal neoplasms because of the higher en bloc resection rate. However, ESD is technically more difficult, requires a longer procedure time and has more frequent complications compared with conventional endoscopic mucosal resection (EMR). We evaluated retrospectively the clinical outcomes of ESD compared with EMR to determine the size of the lesion for choosing EMR rather than ESD. METHODOLOGY: Three hundred and sixty-five lesions of early gastric cancer were treated endoscopically (146 by EMR and 219 by ESD). We compared en bloc resection, residual tumor and recurrence-free rates between EMR and ESD. RESULTS: En bloc resection rate was significantly higher with ESD (88.5%) than EMR (45.2%). With regard to lesions < or = 7mm in size, en bloc resection, residual tumor and recurrence-free rates did not differ. CONCLUSIONS: Gastric mucosal cancer < or = 7mm can be treated with EMR as effectively as with ESD.

Delayed hemorrhage after cold and hot snare resection of colorectal polyps: a multicenter randomized trial (interim analysis).

Background and study aims Delayed bleeding is believed to occur less frequently after cold snare polypectomy (CSP), but this has not been validated in clinical trials. This study aimed to compare rates of delayed bleeding after CSP and hot snare polypectomy (HSP). Patients and methods We conducted a multicenter, randomized controlled trial. Participants scheduled to undergo endoscopic resection of colorectal polyps ≤ 10 mm were enrolled and randomly assigned to CSP or HSP. Prophylactic clipping was performed at the endoscopists' discretion. The primary outcome was delayed bleeding rate. Secondary outcomes included immediate bleeding rate and clipping rate. Sample size calculation showed that 451 patients were required in each arm. Results At the end of the study period decided in advance, 308 participants were recruited and an interim analysis was performed. A total of 273 patients (mean age 62.2 ±â€Š8.8 years; 188 males) were analyzed, with 139 patients allocated to CSP and 134 to HSP. In total, 367 polyps were resected with CSP and 360 polyps with HSP. There were no significant differences in patient demographics or polyp characteristics. In per-patient-based analysis, delayed bleeding rates were 0.7 % after CSP and 0.7 % after HSP. Per-polyp analysis showed similar results (CSP: 0.3 % vs. HSP: 0.6 %). The immediate bleeding rate was significantly higher with CSP vs. HSP (54 % vs.14 %, P  < 0.0001), while clipping rates were 18 % and 19 %, respectively. Conclusion This interim analysis did not demonstrate that delayed bleeding after CSP is less frequent than after HSP. The delayed bleeding rate after HSP was lower than expected. Meeting presentations: Digestive Disease Week 2017.

Inflammatory Hepatocellular Adenoma with Elevated Serum Protein Induced by Vitamin K Absence/Antagonist-II in Adult Males.

Two men (24 and 34 years of age) with a single hypervascular liver tumor were admitted to our hospital. The tumors were diagnosed as hepatocellular adenoma (HCA) by an ultrasound-guided biopsy and classified as inflammatory type by immunohistochemical staining. Considering the risk of malignant transformation, they underwent surgical resection. Although the serum levels of protein induced by vitamin K absence/antagonist-II (PIVKA-II) were slightly elevated, they normalized after the resection. The diagnosis of HCA including malignant transformation is often difficult by image findings alone. Careful immunohistochemical examinations are very useful for the diagnosis and classification of subgroups, including malignant transformation. In addition, we proved that HCA without malignant transformation expresses PIVKA-II.

[A case of pancreatic malignant lymphoma diagnosed by EUS-FNA].

A 57-year-old woman was admitted to the hospital because of obstructive jaundice. Abdominal computed tomography and ultrasonography showed a homogeneous mass 7cm in diameter at the head of the pancreas. Gamma-scintigraphy showed uptake in the head of the pancreas. Histological diagnosis was obtained by endoscopic ultrasoundscopy-fine needle aspiration (EUS-FNA). The pathological and immunohistochemical studies showed diffuse lymphoma with large B-cells. We experienced a rare case of pancreatic malignant lymphoma and EUS-FNA was usefull in the diagnosis.

Spontaneous Regression of Hepatocellular Carcinoma with Portal Vein Tumor Thrombus.

An 83-year-old man underwent transcatheter arterial chemoembolization (TACE) for a 20-mm hepatocellular carcinoma (HCC) in Couinaud's segment 4. Computed tomography (CT) 4 months after TACE showed tumor thrombus in the portal vein in addition to diffuse metastases and arterioportal shunts in the left lobe. Although we performed the best supportive care, the tumor thrombus in the portal vein and tumors in the left lobe had completely disappeared on CT 16 months after the TACE. Rapidly grown portal vein tumor thrombus and arterioportal shunt might be the causes of spontaneous regression of HCC, probably associated with tumor hypoxia.

Peptic Ulcers in Fukushima Prefecture Related to the Great East Japan Earthquake, Tsunami and Nuclear Accident.

Objective Due to the Great East Japan Earthquake, which occurred in March 2011, many residents of Fukushima Prefecture were affected by a radiation accident in addition to suffering loss or damage from the earthquake and the subsequent tsunami. The aim of this study was to evaluate the actual condition of patients with peptic ulcers related to the disaster. Methods Patients with peptic ulcers at six hospitals in three different regions of Fukushima Prefecture during the two months following the disaster and the corresponding period of the year before and the year after the disaster were enrolled in this study. Changes by period and region in the number of esophagogastroduodenoscopy (EGD) examinations and the number of peptic ulcer patients were evaluated as the primary endpoints. Changes in the frequencies of hemorrhagic ulcers were evaluated by period and by region as secondary endpoints. Results The numbers of EGDs and peptic ulcer cases compared to the previous year decreased in 2011 and then increased in 2012. However, the ratio of hemorrhagic ulcers to peptic ulcers was higher in 2011 (51.9%) than in 2010 (38.1%) and 2012 (31.1%), and the 2011 hemorrhagic ulcer ratio was the highest at 63.6% in the coastal area. Regarding bleeding cases during 2011, the rate at 1 month after the disaster (64.1%) was higher than the rate at 2 months after the disaster (40.5%) (p=0.033). Conclusion The number of patients with peptic ulcers did not increase immediately following the disaster in Fukushima Prefecture. However, the rate of bleeding patients increased soon after the disaster, especially in the coastal area.

[Congenital absence of the portal vein in an adult woman with liver tumor].

A 30-years-old Japanese woman with a liver tumor was found to have congenital absence of the portal vein (CAPV). Both three-dimensional CT and angiography revealed that the superior mesenteric vein and splenic vein flowed into inferior vena cava and there was us portal vein, CAPV is an extremely rare congenital anomaly and liver tumor. Most cases on diagnosed in childhood, although this case was found in on adult. We reviewed the literature on reported CAPV cases.