Publications by authors named "Aki Murayama"
Methylglyoxal (MGO), a highly reactive dicarbonyl compound produced via the glycolytic pathway, plays a key role in the pathogenesis of various diabetic complications, such as diabetic retinopathy. Müller cells provide neurotrophic support and maintain retinal homeostasis, including the redox balance. This dysfunction leads to retinal disease.
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- A CGG repeat expansion in the 5' UTR of the GIPC1 gene is linked to oculopharyngodistal myopathy (OPDM), a hereditary muscle disorder causing symptoms like eyelid drooping and muscle weakness.
- This mutation has also been associated with Parkinson's disease, although without myopathy symptoms in those cases.
- In two unrelated cases, patients with myopathic symptoms later developed parkinsonism, indicating that GIPC1-related repeat expansions may lead to various neuromuscular issues, highlighting the need to recognize central nervous system symptoms in OPDM2.
Article Synopsis
- Neuronal intranuclear inclusion disease (NIID) is a neurological disorder marked by abnormal inclusions found in the nuclei of various cells, including those in systemic organs.
- Key indicators for diagnosing NIID include specific imaging signals on diffusion-weighted MRI and the identification of p62-positive inclusions in skin biopsies.
- The report discusses a case of an older male adult with NIID, highlighting notable imaging findings and confirming similar pathological changes in brain structures.
Article Synopsis
- - The study reports a unique case where a patient initially diagnosed with LGI1 encephalitis later developed Isaacs syndrome, revealing a connection between the two conditions.
- - Throughout the illness, both LGI1 and CASPR2 autoantibodies were tracked in the patient's serum and cerebrospinal fluid, showing that LGI1 antibodies disappeared as CASPR2 antibodies emerged.
- - This pattern of alternating autoantibodies suggests that the initial LGI1 encephalitis prompted the production of CASPR2 antibodies, which were linked to the subsequent development of Isaacs syndrome.
Background: Spinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the BEAN1 gene. Clinically, SCA31 is characterized by late adult-onset, pure cerebellar ataxia. To explore the association between parkinsonism and SCA31, five patients with SCA31 with concomitant nigrostriatal dopaminergic dysfunction (NSDD) development, including three cases of L-DOPA responsive parkinsonism, were analyzed.
View Article and Find Full Text PDFEffects of oral care on prolonged viral shedding in coronavirus disease 2019 (COVID-19).
Spec Care Dentist
September 2020
Article Synopsis
- The study aimed to evaluate how oral care impacts the duration of viral shedding in COVID-19 patients by examining viral detection through PCR testing of nasopharyngeal swabs.
- Results showed that most patients stopped shedding the virus within 30 days, but two patients with mental health challenges had prolonged shedding for 44 and 53 days due to inadequate oral hygiene.
- After receiving instructions on proper oral care like tooth brushing and gargling, these patients tested negative for the virus, suggesting that maintaining oral hygiene may reduce false positives in PCR tests.