Rinsho byori. The Japanese journal of clinical pathology
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary stroke disorder. CADASIL is caused by missense point mutations or small deletions of the Notch3 gene, which encodes a large single-pass transmembrane receptor. Notch3 is essential for the normal maturation of blood vessels in both fetal and adult brains in mammals. ⋯ It has been shown that almost 70% of mutations can be found within exons 3-4 of the 33 exons making up the gene. Skin biopsies are usually used for the diagnosis, since pathomorphological changes in the small vessels are observed not only in the brain, but also in the skin. Recently, Notch3 immunostaining of skin biopsy specimens has been introduced as a simplified supportive test for the diagnosis of CADASIL.
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Anti-NMDA receptor encephalitis is a treatment-responsive encephalitis associated with anti-NMDA receptor antibodies, which bind to the extracellular conformal epitope in NR1/NR2 heteromers of the NMDA receptor, although recent data have demonstrated that its critical epitope region resides in the NR1 subunit. This disorder usually develops in young women with ovarian teratoma, who typically present with prominent psychiatric symptoms, often preceded by a common cold-like illness. Most cases develop seizures, followed by an unresponsive/catatonic state, prolonged cloudiness of consciousness, central hypoventilation, bizarre dyskinesias, and autonomic symptoms. ⋯ Based on symptomatology, we speculate that an antibody-mediated inhibition of the NMDA receptor on presynaptic GABAergic interneurons may reduce the release of GABA, causing the disinhibition of postsynaptic glutamatergic transmission, excessive release of glutamate in the prefrontal/subcortical structures, and glutamate and dopamine dysregulation. Acute juvenile female non-herpetic encephalitis (AJFNHE) has been proposed as a distinct clinical entity in Japan independently of tumor presence since 1997, when 5 young women with encephalitis were reported. A recent study suggested that these disorders are identical.
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Hashimoto's thyroiditis (HT) is the most common disorder affecting the thyroid gland. Encephalopathy associated with abnormal thyroid functions, such as myxedema encephalopathy, is treatable. Hashimoto's encephalopathy (HE) was recognized as a new clinical disease based on an autoimmune mechanism associated with HT, and steroid treatment has been successfully administrated. ⋯ HE belongs to a part of a clinical spectrum consisting of individuals with anti-thyroid antibodies, overlapping the clinical spectrum of HT. Anti-NAE autoantibodies were positive in 44% of patients with HE. Considering the overall findings, we should be aware of the possibility of autoimmune encephalopathy associated with thyroid disorders (HE) in patients with an unknown etiology of neuronpsychiatric symptoms with/without a past history of HT.
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To lessen the number of suicide is a nationwide problem in Japan. Recently, suicide due to carbon monoxide poisoning with charcoal burning is increased. ⋯ In addition, there are concerns about drugs and illegal substances that can be bought obtained via the internet. In Japan, the establishment of a voluntary internet guideline in 2005 was effective to save the lives of the persons with suicidal ideations.
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Recently, there have been marked advances in the technological strategies employed in medical examinations. The educational concept to nurture highly capable medical technologists is considered to be a priority issue by not only educators but also employers, even though the medical educational levels have markedly improved in every college and university. It is commonly acknowledged that the results of any examination in the clinical laboratory should be accurate and fed back to medical doctors as soon as possible. ⋯ Additionally, it is another basic requirement of competent medical technologists to learn to adapt to laboratory-based changes in their work throughout their career. In conclusion, how to adapt to any social demand and learn strategies in any era should be taught in college or university as well as after graduation because each hospital and institute has a different philosophy and requirements of newcomers. It is important for medical technologists and doctors to develop flexible ways of thinking, although we sometimes might accede to traditional ways.