Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Volume 54 , Issue 14
Showing 1-29 articles out of 29 articles from the selected issue
REVIEW ARTICLE
  • Fukuo Kondo, Toshio Fukusato
    2015 Volume 54 Issue 14 Pages 1685-1694
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    Cholangiolocellular carcinoma (CoCC) is categorized as a different entity from ordinary intrahepatic cholangiocarcinoma (ICC) due to its unique clinical, radiological and histological features. The lesion is supposed to originate from cholangioles, where hepatic stem/progenitor cells exist. However, the interlobular duct is also speculated to be the origin of CoCC. According to the findings of morphometric and immunohistochemical studies, CoCC closely resembles the interlobular duct. The unique clinical and pathological features of this disease can also be explained by the interlobular duct origin theory. The malignant counterparts of cholangioles and interlobular ducts have been categorized as CoCC to date. In order to differentiate between true CoCC (cholangiole origin) and pseudo-CoCC (interlobular duct origin), assessing the size of the cancer duct, positivity for c-Kit and coexistence of an ordinary ICC component is useful.
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ORIGINAL ARTICLES
  • Yu-mei Liu, Hong-da Bao, Zhen-zhen Jiang, Ya-juan Huang, Nian-song Wan ...
    2015 Volume 54 Issue 14 Pages 1695-1703
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    Objective To determine the incidence, causes and prognosis of pregnancy-related acute kidney injury (PR-AKI) in Chinese women.
    Methods From July 2004 to February 2013, 18,589 women of Han ethnicity who attended the Obstetrics and Nephrology Department of our tertiary hospital were investigated, and individuals meeting the PR-AKI criteria were included in the analysis. The WanFang, Chinese Science Journal, Chinese Knowledge, MEDLINE, EMBASE and Cochrane library databases were searched, and literature describing PR-AKI diagnoses with Chinese women as study subjects and a sample size of ≥5 were included.
    Results The incidence of PR-AKI was 0.1183% (22/18,589). Hemorrhagic shock (31.8%) and pre-eclampsia (severe, 18.2%) were the two most common causes of PR-AKI. Twelve women recovered completely, six women displayed persistent proteinuria and four women had an increased serum creatinine level at discharge. There were no cases of death. Twenty women demonstrated adverse pregnancy outcomes (90.9%), including eight cases of stillbirth (36.4%). In our literature review, 29 of 4,076 articles were included, and the incidence of PR-AKI in China was found to range from 0.02% to 1.84%. Pregnancy hypertension (49.2%) and postpartum hemorrhage (13.8%) were found to be the most common causes of PR-AKI in China. The prognosis improved in 81.9% of the patients, the renal function deteriorated in 4.5% of the patients and 13.6% of the patients died. The rate of stillbirth was 27.0%.
    Conclusion The maternal condition after active treatment was good, whereas the pregnancy outcomes were generally poor. Although the incidence of PR-AKI was relatively low, this finding is noteworthy. Further studies are thus warranted to improve maternal-fetal outcomes.
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  • Yasushi Ryujin, Emiko Ogawa, Taishi Nagao, Tetsuya Oguma, Masafumi Yam ...
    2015 Volume 54 Issue 14 Pages 1705-1710
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    Objective Early detection of chronic obstructive pulmonary disease (COPD) is critical for preventing progression; however, the disease is rarely detected in the early stages. One reason for this is that COPD is not generally recognized and diagnosed by general practitioners (GPs). The objective of this study was to observe changes in the knowledge and behavior of GPs regarding the diagnosis and treatment of COPD over a five-year period.
    Methods The surveys were performed using identical and anonymous questionnaires in 2005, 2006 and 2010. During this period, various educational campaigns were conducted.
    Materials All members of the Shiga Medical Association working as GPs in Shiga Prefecture.
    Results The number of questionnaires collected was 216 of 711, 269 of 731 and 326 of 856, respectively. Throughout the study period, the number of doctors who prescribed inhaled long-acting muscarinic antagonists (LAMAs) significantly increased (p<0.001). However, there were no significant changes in the rate of possession of spirometers or recognition of COPD guidelines. When we focused on the data for internists, the rate of recognition of the guidelines increased significantly (p<0.01), despite a lack of change in the rate of possession of spirometers. Furthermore, the results of the multivariate analysis revealed that increased knowledge concerning COPD was associated with the doctor's specialty, ownership of a spirometer, number of COPD patients attending their clinic and their level of recognition of the guidelines.
    Conclusion During the study period, the GPs prescribed more inhaled LAMAs. The rate of recognition of COPD guidelines was also increased among internists. Educational campaigns may be more effective if the backgrounds of the GPs are taken into consideration.
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  • Satoshi Yamasaki, Kentaro Kohno, Masanori Kadowaki, Ken Takase, Seiich ...
    2015 Volume 54 Issue 14 Pages 1711-1715
    Published: 2015
    Released: July 15, 2015
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    Objective The aim of this study was to assess the safety and efficacy of lenalidomide (Len), with the dose adjusted according to the renal function, plus low-dose dexamethasone (Dex) in older patients with bortezomib (Bor)-resistant multiple myeloma (MM).
    Methods The study included 68 consecutive patients 70 years of age or older diagnosed with MM at our institute and ineligible for high-dose melphalan therapy plus autologous stem cell transplantation. Fifteen older patients with relapsed or refractory MM (RRMM) previously treated with Bor-containing regimens were treated with the combination of Len plus low-dose Dex.
    Results The median treatment duration was 12 months (range, 9 to 43 months), with all patients responding to Len plus low-dose Dex. All patients showed significant renal dysfunction between the beginning and end of treatment; however, the renal function improved in all cases.
    Conclusion Treatment with dose-adjusted Len combined with low-dose Dex is an effective and safe therapy for older RRMM patients exhibiting renal impairment after receiving Bor-based therapies.
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  • Yusuke Fukui, Nozomi Hishikawa, Kota Sato, Syoichiro Kono, Kosuke Mats ...
    2015 Volume 54 Issue 14 Pages 1717-1723
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    Objective The purpose of this study was to examine a new MRI technology, dynamic cerebrospinal fluid (CSF) flow, to examine sporadic cerebellar ataxia patients with cortical cerebellar atrophy (CCA) and multiple system atrophy-cerebellar type (MSA-C).
    Methods Nine CCA patients (3 men and 6 women; mean age: 64.2±6.9 years) and 31 MSA-C patients (13 men and 18 women; mean age: 62.7±6.8 years) were examined by a dynamic CSF flow analysis. All CSF flow data were evaluated by phase contrast-MRI using a 1.5T MRI scanner. The CSF flow was calculated by 15 images in the equidistant MRI sequence which was taken through a cardiac cycle.
    Results Compared with the CCA patients, the absolute values of the mean velocity of the MSA-C patients were significantly reduced at time points 5 (CCA, 0.24±0.14 cm/s; MSA-C, 0.13±0.11 cm/s; * p<0.05) and 13 (CCA, -0.60±0.37 cm/s; MSA-C, -0.31±0.17 cm/s; ** p<0.01). Significant correlations in Spearman's rank correlation coefficient were also found in MSA-C patients between the disease duration and the difference between the maximum and minimum velocities (Vheight) (r=-0.429, * p<0.05), the minimum velocity of the CSF (Vmin) (r=0.486, ** p<0.01) or the length of the minor axis of the pons (r=-0.529, ** p<0.01). The linear regressions between the disease duration and Vheight or Vmin revealed a significant strong correlation only in the MSA-C patients.
    Conclusion The present CSF flow study showed for the first time that Vheight and Vmin revealed good correlations with the disease duration in the MSA-C patients. Furthermore, the velocity of the prepontine CSF flow tended to decrease in the MSA-C patients compared with the CCA patients, suggesting that this particular CSF flow analysis may be a new surrogate marker for differentiating both types of cerebellar ataxia.
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CASE REPORTS
  • Hiroki Kiyohara, Tadakazu Hisamatsu, Katsuyoshi Matsuoka, Makoto Nagan ...
    2015 Volume 54 Issue 14 Pages 1725-1732
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 23-year-old woman developed aortitis during treatment with adalimumab (ADA) for ileocolic Crohn's disease (CD). The patient complained of a high fever, abdominal pain, diarrhea, hematochezia and arthralgia. Although the ADA therapy resulted in immediate symptom improvement, after six weeks, she again complained of a low-grade fever and abdominal pain, whereas the CD-related symptoms did not worsen. Contrast-enhanced computed tomography revealed thoracoabdominal aortitis, and we therefore started treatment with prednisolone, which immediately improved the fever and abdominal pain. We subsequently tapered the dose of prednisolone and resumed the administration of ADA in order to maintain the CD remission. No further episodes of aortitis relapse were noted after restarting ADA, and the CD currently remains in remission. This is the first report of the onset of aortitis during ADA therapy for CD.
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  • Amihai Rottenstreich, Yahel Agmon, Ram Elazary
    2015 Volume 54 Issue 14 Pages 1733-1736
    Published: 2015
    Released: July 15, 2015
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    Alpha glucosidase inhibitors have been shown to be associated with pneumatosis intestinalis (PI) in recent reports. We herein report the case of a 73-year old man who received treatment with an alpha glucosidase inhibitor (acarbose) and presented with acute abdomen. A computed tomography scan demonstrated PI in addition to intrahepatic portal air and pneumoperitoneum. During exploratory laparotomy, we found no evidence of hollow organ perforation or bowel necrosis. The patient recovered after conservative treatment with cessation of the alpha glucosidase inhibitor. This is the first report to describe the combination of PI with portal venous gas and pneumoperitoneum caused by an alpha-glucosidase inhibitor.
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  • Masaya Iwamuro, Hiroyuki Okada, Takehiro Tanaka, Keisuke Hori, Masahid ...
    2015 Volume 54 Issue 14 Pages 1737-1740
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 78-year-old Japanese man underwent routine esophagogastroduodenoscopy, during which a reddish, flat elevated lesion was observed in the middle third of the esophagus. A bright red area of protrusion appeared in the center of the elevated lesion three months later, and the protruded nodule grew to be a blood blister six months after the initial endoscopy examination. The morphology of the lesion changed from a protruded nodule to a mass with two humps that subsequently returned to a single hump during the three-year observation period. A histological diagnosis of pyogenic granuloma was made based on a biopsy performed at six months. This report illustrates a rare case of an esophageal pyogenic granuloma presenting with a unique endoscopic appearance and morphologic changes. Endoscopic ultrasonography images are also presented.
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  • Masaya Iwamuro, Hiroyuki Okada, Katsuyoshi Takata, Nobuharu Fujii, Sei ...
    2015 Volume 54 Issue 14 Pages 1741-1745
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 60-year-old Japanese man was diagnosed with systemic follicular lymphoma with duodenal, jejunal, and ileal involvement. The duodenal lesion showed typical endoscopic features with multiple whitish granules. Chemotherapy with bendamustine and rituximab was administered, and complete remission was confirmed by CT scanning and positron emission tomography scanning. Although the duodenal granular lesions did not completely disappear, magnifying observation for the remaining lesions showed no evidence of residual lymphoma. Complete remission was pathologically confirmed by biopsy examinations. This case suggests the usefulness of magnifying observation in evaluating the effects of treatment for duodenal follicular lymphoma lesions.
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  • Shinsuke Kumei, Yutaka Onishi, Takeshi Ogura, Chosei Kusumoto, Yasuko ...
    2015 Volume 54 Issue 14 Pages 1747-1751
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 73-year-old woman was referred to our hospital due to epigastralgia and jaundice. The radiological findings showed a stone-like tumor in the extrahepatic bile duct. The patient was initially thought to have adenocarcinoma of the bile duct based on the findings of a pathological examination of the bile duct biopsy specimen and underwent pancreaticoduodenectomy; the final diagnosis of the lesion was so-called carcinosarcoma of the extrahepatic bile duct. She died of liver metastasis six months after the surgery. This case suggests that surgical resection is not adequate for achieving a radical cure, and the optimal treatment for extrahepatic bile duct carcinosarcoma should be established immediately.
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  • Shinichi Morita, Hiroaki Onaya, Yoji Kishi, Nobuyoshi Hiraoka, Yasuaki ...
    2015 Volume 54 Issue 14 Pages 1753-1756
    Published: 2015
    Released: July 15, 2015
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    A 56-year-old man was admitted to our hospital for an evaluation of pancreatic lesions. Computed tomography revealed a hypoattenuating tumor in the head of the pancreas, with three other tumors detected in the body and tail. Magnetic resonance imaging showed similar enhancement patterns and signal intensities in all four lesions. The patient underwent total pancreatectomy based on a preoperative diagnosis of multiple invasive ductal carcinomas. Histopathologically, the lesion in the pancreatic head was considered to be the primary lesion, while the others were diagnosed as metastases. This is a rare case of pancreatic cancer with intraglandular metastases. The possibility of this differential diagnosis should thus be considered when imaging shows multiple hypovascular lesions in the pancreas.
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  • Kenjiro Yamamoto, Takuji Gotoda, Chika Kusano, Jiajia Liu, Tsuneo Yasu ...
    2015 Volume 54 Issue 14 Pages 1757-1760
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    We herein report a case of severe acute cholangitis complicated by bacterial meningitis. A 56-year-old Japanese man was admitted to our hospital due to a consciousness disorder that had developed while he was being treated for acute cholangitis. The levels of both hepatobiliary enzymes and inflammatory markers were high, and computed tomography revealed common bile duct stones and cholangiectasis. A diagnosis of acute cholangitis was made, and meningitis was subsequently confirmed on a cerebrospinal fluid analysis. The patient recovered successfully after receiving emergency endoscopic drainage and antibiotic therapy. This case demonstrates that a disturbance of consciousness complicated by acute cholangitis may result from septic encephalopathy as well as meningitis via bloodstream infections.
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  • Norihiko Ohashi, Takenori Okada, Mio Uchida, Michitaka Amioka, Mai Fuj ...
    2015 Volume 54 Issue 14 Pages 1761-1763
    Published: 2015
    Released: July 15, 2015
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    Left ventricular thrombus (LVT) after acute myocardial infarction (AMI) is a risk factor for embolic complications. Although warfarin has traditionally been used to treat LVT, it has relevant disadvantages that limit its use. We herein describe the case of a 78-year-old man with AMI who had a history of paroxysmal atrial fibrillation. Following 10 days of urgent coronary reperfusion therapy, transthoracic echocardiography revealed a moderately sized LVT in the apex, which subsequently disappeared after 18 days of treatment with dabigatran. This case demonstrates that dabigatran may represent an alternative to warfarin as a therapeutic option in patients with LVT after AMI.
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  • Ikuo Misumi, Tsuyoshi Honda, Hirofumi Kurokawa, Yuji Kubota, Masanobu ...
    2015 Volume 54 Issue 14 Pages 1765-1769
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 69-year-old man presented to our hospital with chest pain. Two-dimensional transthoracic echocardiography showed hypertrophy of the left ventricle, mid-ventricular obstruction and an apical aneurysm. Color-flow imaging at the obstruction site on the apical four-chamber view demonstrated systolic flow reversal in addition to a paradoxical jet flow. The systolic flow reversal may have been caused by a decreased apical contractility and pressure during systole.
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  • Katsumi Iizuka, Masami Mizuno, Hiroyuki Niwa, Jun Takeda
    2015 Volume 54 Issue 14 Pages 1771-1775
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 52-year-old man presented for an evaluation of worsening glycemic control secondary to glucocorticoid administration. The glycated hemoglobin (HbA1c) level was 8%, and oral glucose tolerance testing revealed impaired tolerance, whereas the plasma glucose and glycoalbumin levels were normal. The results of high-performance liquid chromatography (HPLC) for HbA1c, isoelectrofocusing of the hemolysate and precise HPLC measurements of the HbA1c level supported the presence of an Hb variant, and DNA sequencing of the β-globin gene revealed Hb Yahata [β112 TGT (Cys)→TAT (Tyr)] (heterozygote). In this case, the discrepancy between the plasma glucose and HbA1c levels raised suspicion of this rare Hb variant.
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  • Canxin Zhou, Xuxia Ying, Weisheng Feng
    2015 Volume 54 Issue 14 Pages 1777-1780
    Published: 2015
    Released: July 15, 2015
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    Ascites, oliguria and vomiting with an increasing serum creatinine level are often observed in patients with acute renal failure. However, these symptoms are also noted in individuals with intraperitoneal urinary leakage. Bladder rupture without a history of obvious trauma is sometimes mistaken for acute renal failure. We herein report a case of bladder perforation resembling acute renal failure in which the presentation was delayed until the patient began to experience symptoms of urinary ascites. The diagnostic dilemma associated with the rarity of this condition and possible aetiologies are discussed.
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  • Shigeru Sasaki, Toshirou Fukushima, Yasuhiro Maruyama, Daisuke Gomi, T ...
    2015 Volume 54 Issue 14 Pages 1781-1785
    Published: 2015
    Released: July 15, 2015
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    Thymic carcinoma frequently spreads to the pleural space, regional lymph nodes, liver and lungs. However, an initial clinical presentation involving spinal or multiple bone metastases in patients with thymic carcinoma is extremely rare. We experienced two cases of thymic carcinoma that initially presented with spinal compression and severe pain due to multiple bone metastases, respectively. Both patients were histologically diagnosed with metastatic thymic squamous cell carcinoma based on the findings of specimens resected from the metastatic bone lesions. We herein describe the clinical courses of these cases and review the characteristics of bone metastasis of thymic carcinoma.
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  • Masafumi Otsuka, Masayoshi Nagata, Motofumi Suzuki, Yasuhito Nannya, S ...
    2015 Volume 54 Issue 14 Pages 1787-1790
    Published: 2015
    Released: July 15, 2015
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    Retroperitoneal tumors present diagnostic challenges, although a definitive diagnosis can be established based on a histopathological analysis. We herein report the case of a 62-year-old woman with a massive retroperitoneal tumor who was referred to our department for surgery. Although we initially planned to perform an incisional biopsy, we unexpectedly detected gingival swelling, and a gingival biopsy subsequently confirmed a pathological diagnosis of Burkitt's lymphoma (BL). We successfully avoided the use of more invasive diagnostic procedures and were able to promptly initiate chemotherapy. Obtaining an immediate pathological diagnosis is essential for providing successful treatment in such cases, as the disease is potentially curable with chemotherapy. BL should therefore be considered in the differential diagnosis of massive retroperitoneal tumors, highlighting the importance of routine systemic screening.
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  • Hiroko Teramoto, Akihiko Morita, Makoto Hara, Satoko Ninomiya, Shuntar ...
    2015 Volume 54 Issue 14 Pages 1791-1793
    Published: 2015
    Released: July 15, 2015
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    Glossopharyngeal and/or vagus nerve involvement is infrequent in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We herein report the case of a 69-year-old Japanese woman who presented with muscle weakness and numbness of the extremities with dysphagia. The serum anti-ganglioside GM1 immunoglobulin IgM antibody levels were elevated, and treatment with intravenous immunoglobulin (IVIg) resulted in a dramatic improvement; the weakness, numbness and dysphagia all resolved. However, relapse comprising dysphagia alone occurred on hospital day 26, and treatment with IVIg again proved extremely effective. IVIg therapy can be effective against cranial nerve involvement in cases of CIDP.
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  • Zen Kobayashi, Sakiko Itaya, Yuji Nakamura, Miho Akaza, Hiroyuki Tomim ...
    2015 Volume 54 Issue 14 Pages 1795-1797
    Published: 2015
    Released: July 15, 2015
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    A 61-year-old Japanese woman presented with a headache and appetite loss lasting for nine days and was admitted to our hospital, where she was diagnosed with pneumococcal meningitis associated with acute sphenoid sinusitis. While the administration of meropenem and dexamethasone ameliorated the meningitis, right third and sixth nerve palsy suddenly developed 10 days after admission. CT angiography subsequently demonstrated an aneurysm in the cavernous portion of the right internal carotid artery. This is the first reported case of sphenoid sinusitis simultaneously complicated by both pneumococcal meningitis and an infectious aneurysm in the intracavernous carotid artery.
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  • Hiromasa Tsuda, Tomoko Fujita, Kaori Maruyama, Masaki Ishihara
    2015 Volume 54 Issue 14 Pages 1799-1801
    Published: 2015
    Released: July 15, 2015
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    An 80-year-old man with angina pectoris abruptly developed Claude's syndrome, which consisted of left-sided partial oculomotor nerve palsy without ptosis and right-sided hemiataxia. There were no other neurological abnormalities. Cranial magnetic resonance imaging indicated an infarction of the left inferior paramedian mesencephalic artery, which may have involved the most caudal portion of the oculomotor fascicules. With anti-platelet therapy, the patient became asymptomatic within 10 days. The oculomotor fascicular arrangement in humans remains unclear. Our case suggests that in the oculomotor fascicles, the fibers to the levator palpebrae superioris may be located more in the rostral region than previously hypothesized.
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  • Morihiko Oya, Takao Tanimoto, Takayuki Yamamoto, Yukiya Hakozaki
    2015 Volume 54 Issue 14 Pages 1803-1808
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 33-year-old previously healthy man injured his gums and subsequently developed dyspnea and fever. A chest X-ray showed nodules and infiltrates in both lungs, and the patient was initially diagnosed with pneumonia and administered meropenem hydrate, although his symptoms did not improve. A blood culture identified Fusobacterium necrophorum, and thrombophlebitis in the internal jugular vein of the neck was observed on computed tomography and ultrasound scans. We replaced the meropenem with clindamycin, sulbactam/ampicillin and metronidazole, and the patient's symptoms improved.
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  • Akemi Okui, Yoshihiko Soga, Susumu Kokeguchi, Motoko Nose, Reiko Yaman ...
    2015 Volume 54 Issue 14 Pages 1809-1814
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    The detection of infective endocarditis (IE) of oral origin has been previously discussed. However, there are few reports confirming this infection using molecular biological techniques. We herein describe the case of a 67-year-old man who developed IE. Blood culture samples and strains obtained from the gingival and buccal mucosa showed 100% identity to Enterococcus faecalis JCM 5803 on sequencing of 16S rRNA gene fragments. A random amplification of polymorphic DNA (RAPD) analysis showed the same pattern for these samples, thus confirming the identity of E. faecalis isolates in the blood and oral mucosa. Our observations provide novel information regarding the level of identity between IE pathogens and oral bacteria.
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  • Satoshi Kutsuna, Kazuhisa Mezaki, Maki Nagamatsu, Junwa Kunimatsu, Kei ...
    2015 Volume 54 Issue 14 Pages 1815-1818
    Published: 2015
    Released: July 15, 2015
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    Recently, an association between granulomatous mastitis and local infection with Corynebacterium (C.) kroppenstedtii has been suggested. We herein report two cases of granulomatous mastitis resulting from C. kroppenstedtii infection in nulliparous young women with hyperprolactinemia. Both cases involved nulliparous patients with drug-induced hyperprolactinemia, and both individuals received incision and drainage, after which the pus was sent to our laboratory. Corynebacterium spp. grew on blood agar, and 16S rRNA gene sequencing identified the pathogen as C. kroppenstedtii. In conclusion, lactational changes caused by drug-induced hyperprolactinemia may increase the risk of granulomatous mastitis after C. kroppenstedtii infection.
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  • Atsushi Satomura, Takayuki Fujita, Tomohiro Nakayama, Hiroyuki Kusano, ...
    2015 Volume 54 Issue 14 Pages 1819-1824
    Published: 2015
    Released: July 15, 2015
    JOURNALS OPEN ACCESS
    A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a renal biopsy specimen obtained when the patient was diagnosed with chronic renal failure at 45 years of age in order to elucidate the pathogenicity of the E66Q mutation. Interestingly, an electron microscopic examination of the renal biopsy specimen indicated no characteristic findings of Fabry disease.
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