Internal medicine
-
Case Reports
Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome: A Case Report.
We report the case of a 46-year-old female patient who developed a subacute progression of axial and proximal muscle weakness. Laboratory findings revealed mildly elevated serum creatine kinase levels. No monoclonal gammopathy was detected. ⋯ We diagnosed her as having sporadic late-onset nemaline myopathy without monoclonal gammopathy of undetermined significance associated with SjS. Her symptoms improved after methylprednisolone pulse therapy followed by intravenous immunoglobulin therapy. A good response to immunotherapy demonstrates the necessity of making a correct diagnosis, for which a muscle biopsy is required.
-
Case Reports
Nivolumab-induced Thrombotic Thrombocytopenic Purpura in Patients with Gastric Tube Cancer.
Recently, immune checkpoint inhibitors (ICIs) have been used to treat several cancer types. ICIs have been reported to cause a wide variety of immune-related adverse events, including endocrine, neurologic, gastrointestinal, and cutaneous disorders. ⋯ Several previous cases of TTP were thought to have been caused by ICI treatment. We herein report a rare case of TTP that developed after long-term treatment with an ICI (nivolumab) for gastric tube cancer.
-
Case Reports
Severe Left Main Coronary Artery Stenosis and Aortic Regurgitation in a Patient Presenting with Takayasu Arteritis.
We herein report the case of a 46-year-old woman with Takayasu arteritis (TA), severe stenosis in the left main coronary artery (LMCA), and severe aortic regurgitation. Prednisolone and tacrolimus were initiated as TA treatments. ⋯ Thus, after confirming the resolution of inflammation, we performed coronary artery bypass grafting alone without any aortic valve intervention. In TA patients with severe LMCA stenosis, surgical management of the coronary artery should therefore be considered only after successfully administering anti-inflammatory therapy.
-
Atypical hemolytic uremic syndrome (aHUS) is a type of HUS. We herein report a case of aHUS triggered by pancreatitis in a patient with a heterozygous variant of membrane cofactor protein (MCP; P165S), a complement-related gene. ⋯ Pancreatitis, in addition to a genetic background with a MCP heterozygous variant, led to the manifestation of aHUS. This case supports the "multiple hit theory" that several factors are required for the manifestation of aHUS.
-
We herein report the first family of Japanese individuals with familial hypobetalipoproteinemia caused by the c.1468C>T mutation in apolipoprotein B (APOB). A 13-year-old boy with extremely low levels of low-density lipoprotein (LDL) cholesterol (24 mg/dL) was referred to our hospital. ⋯ A genetic analysis confirmed that they all had this variant in APOB (c.1468C>T). None of the patients exhibited atherosclerotic cardiovascular diseases or any other complications associated with low LDL cholesterol levels, including fatty liver, neurocognitive disorders, and cerebral hemorrhaging.