Internal medicine
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Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient with a slowly progressive form of ataxia and spastic paraplegia. ⋯ This is the first report of an SPG7 mutation in the Japanese population. For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis.
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Postsplenectomy sepsis (PSS) and overwhelming postsplenectomy infection (OPSI) following splenectomy or the development of hyposplenism are associated with a high mortality rate. The presence of Howell-Jolly bodies (HJBs) in peripheral erythrocytes is attracting attention as a parameter of hyposplenism. To date, whether HJBs appear following partial splenic embolization (PSE) has not been investigated. Therefore, we examined the prevalence of HJBs in patients who have undergone PSE. ⋯ With the recent increase in the use of autoanalyzers, the opportunities to perform microscopic examinations have been decreasing. Therefore, the presence of HJBs, which can only be confirmed visually, may be overlooked, and the clinical significance of these bodies tends to be disregarded. However, the presence of HJBs is associated with a risk of PSS and OPSI due to hyposplenism. Because HJBs are common in the peripheral erythrocytes of patients who have undergone PSE, irrespective of the residual spleen volume or splenic infarction rate, the presence or absence of HJBs should be assessed visually. In HJB-positive patients, preventing serious infections, for example, by administering the pneumococcal vaccine, is important.
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Obtaining an accurate histopathological diagnosis is mandatory for the optimal treatment of patients who are suspected of having recurrent lung cancer. The purpose of this retrospective study was to investigate the usefulness of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for the diagnosis of recurrent non-small cell lung cancer (NSCLC) among patients who undergo curative surgical resection. ⋯ Convex probe EBUS-TBNA is a sensitive method for diagnosing recurrent NSCLC in patients with lymph node and peribronchial lung parenchymal lesions. Therefore, EBUS-TBNA should be considered first for the cytopathological diagnosis of recurrent NSCLC.
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Case Reports
Autoimmune polyglandular syndrome III in a patient with idiopathic portal hypertension.
A 42-year-old woman with a history of idiopathic portal hypertension (IPH) developed type 1A diabetes and was found to have chronic thyroiditis. The concurrence of IPH and type 1A diabetes has been previously reported in only one case. This is the second known case, and our patient was classified as having autoimmune polyglandular syndrome (APS) III. The patient's HLA DR and DQ alleles were determined to be susceptible to autoimmune thyroid diseases but resistant to type 1A diabetes.
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Case Reports
Sepsis and meningoencephalitis caused by Bacillus cereus in a patient with myelodysplastic syndrome.
We herein report the findings of a case of myelodysplastic syndrome that was complicated by septicemia and meningoencephalitis, both of which were caused by Bacillus cereus. In contrast to all of the previous cases of B. cereus that have been seen at our institution, this patient did not have any invasive devices, such as a central venous catheter, that could have acted as a conduit for a B. cereus infection. Although B. cereus-induced meningoencephalitis is often lethal, the immediate treatment with a regimen of antibiotics including vancomycin was effective in eradicating the infection and, therefore, in reversing both the septicemia and the meningoencephalitis.