Internal Medicine
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#1Kotaro NodaH-Index: 2
#2Nobuyuki NosakaH-Index: 3
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We herein report a 93-year-old woman diagnosed with acute myocardial infarction (AMI) based on typical laboratory findings of severe chest pain accompanied by throat pain. This condition was initially interpreted as referred pain of cardiac origin. However, the patient had persistent throat pain after successful percutaneous coronary intervention. Upper esophageal perforation with life-threatening acute mediastinitis was unexpectedly identified by a further examination. Clinicians should have a ...
#1Shunichi Shirakawa (Kawasaki Medical School)H-Index: 1
#2Tatufumi Murakami (Kawasaki Medical School)
Last. Yoshihide Sunada (Kawasaki Medical School)H-Index: 25
view all 7 authors...
The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), CMTX5 (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a very rare hereditary neuropathy characterized by deafness, optic atrophy, and polyneuropathy. We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 ...
#2Yoshihiro SuzukiH-Index: 8
Last. Yasuyuki Ohta (YU : Yamagata University)H-Index: 1
view all 7 authors...
Anti-voltage-gated potassium channel complex antibodies-mediated disorder includes Isaacs' syndrome, which is characterized by neuromyotonia, and Morvan syndrome, which is characterized by neuromyotonia, encephalopathy and autonomic dysfunction. We herein report a patient with Morvan syndrome that converted from Isaacs' syndrome after thymectomy. The patient first presented with myospasm in all extremities and positivity for both anti-leucine-rich glioma inactivated 1 (LGI1) and anti-contactin-a...
#1Masanori Kurihara (UT: University of Tokyo)H-Index: 6
#2Yusuke Sugiyama (UT: University of Tokyo)H-Index: 4
Last. Tatsushi Toda (UT: University of Tokyo)H-Index: 50
view all 14 authors...
Objective Although aerobic exercise tests on cycle ergometry have long been used for initial assessments of cases of suspected mitochondrial disease, the test parameters in patients with final diagnoses of other diseases via the widely used 15 W for 15 min exercise protocol have not been fully characterized. Methods and Patients We retrospectively reviewed all patients who underwent the test at our institution. We classified the patients with genetic diagnoses or those who met previously reporte...
#1Keita Iyama (Nagasaki University)H-Index: 3
#2Satoshi Ikeda (Nagasaki University)H-Index: 16
Last. Koji Maemura (Nagasaki University)H-Index: 37
view all 12 authors...
A 17-year-old boy with acute coronary syndrome was admitted to our hospital. He had xanthomas over his elbow and Achilles tendon and a high level of low-density lipoprotein cholesterol; therefore, his initial diagnosis was familial hypercholesterolemia. However, a genetic analysis revealed a compound heterozygous mutation in the ABCG5 gene with a high serum level of sitosterol, leading to the diagnosis of sitosterolemia. After lipid-lowering treatment, percutaneous coronary intervention was perf...
#1Naoyuki NishimuraH-Index: 9
#2Motowo MizunoH-Index: 31
Last. Kazuhiro MatsuedaH-Index: 14
view all 3 authors...
#2Akimasa SekineH-Index: 14
Last. Takashi OguraH-Index: 58
view all 3 authors...
#1Hiroki Tanahashi (Hiroshima University)
#2Kakuhiro Yamaguchi (Hiroshima University)H-Index: 8
Last. Taku Nakashima (Hiroshima University)H-Index: 16
view all 17 authors...
This is the first report describing primary pulmonary mucosa-associated lymphoid tissue (MALT) lymphoma with the high expression of IgG4. The histological findings were compatible with the diagnostic criteria for MALT lymphoma and IgG4-related respiratory disease (IgG4-RRD). An unfixed sample for Southern blotting was not obtained since computed tomography findings showed multiple lung cysts, which is rare in patients with MALT lymphoma. However, polymerase chain reaction using paraffin sections...
#1Daisuke Tamanoi (Kumamoto University)H-Index: 2
#2Koichi Saruwatari (Kumamoto University)H-Index: 8
Last. Takuro Sakagami (Kumamoto University)H-Index: 20
view all 12 authors...
The effect of radiotherapy during immunotherapy on immune-related adverse events (irAEs) is not fully understood. We herein report a 74-year-old woman diagnosed with lung adenocarcinoma with programmed death ligand 1 expression ≥50% and treated with pembrolizumab. She developed fatal immune thrombocytopenia associated with pembrolizumab immediately following radiotherapy. A flow cytometry analysis of peripheral blood detected an increased expression of PD-1 and Ki-67 in CD4+ and CD8+ T cells aft...
#1Ji Hyun Sung (Osaka University)
#2Ryotaro Sakamori (Osaka University)H-Index: 20
Last. Tetsuo Takehara (Osaka University)H-Index: 59
view all 11 authors...
We herein report a 34-year-old woman born with tetralogy of Fallot who had undergone 5 cardiac repair procedures. She developed liver nodules with congestive cirrhosis secondary to severe mitral regurgitation and an atrial septal defect. A percutaneous liver biopsy showed hepatocellular carcinoma with liver fibrosis, which was treated using transarterial chemoembolization.
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