Multi‐modal combination therapy rescued a frequent ischemic stroke patient due to giant cell arteritis

Ischemic stroke (IS) due to giant cell arteritis (GCA) is rare, but highly mortal. Here, we report a 72-year-old man who showed frequent IS with GCA. Initial therapy with prednisolone increased the frequency of IS, which disappeared after continuous multi-modal combination therapy with corticosteroids, immunosuppressive agents, antiplatelets, and statin. The present case was discharged with independent walk, suggesting that a multi-modal combination therapy rescued the GCA patient from frequent IS

Clinical and Pathological Benefits of Edaravone for Alzheimer's Disease with Chronic Cerebral Hypoperfusion in a Novel Mouse Model

Alzheimer's disease (AD) and chronic cerebral hypoperfusion (CCH) often coexist in dementia patients in aging societies. The hallmarks of AD including amyloid-β (Aβ)/phosphorylated tau (pTau) and pathology-related events such as neural oxidative stress and neuroinflammation play critical roles in pathogenesis of AD with CCH. A large number of lessons from failures of drugs targeting a single target or pathway on this so complicated disease indicate that disease-modifying therapies targeting multiple key pathways hold potent potential in therapy of the disease. In the present study, we used a novel mouse model of AD with CCH to investigate a potential therapeutic effect of a free radical scavenger, Edaravone (EDA) on AD with CCH via examining motor and cognitive capacity, AD hallmarks, neural oxidative stress, and neuroinflammation. Compared with AD with CCH mice at 12 months of age, EDA significantly improved motor and cognitive deficits, attenuated neuronal loss, reduced Aβ/pTau accumulation, and alleviated neural oxidative stress and neuroinflammation. These findings suggest that EDA possesses clinical and pathological benefits for AD with CCH in the present mouse model and has a potential as a therapeutic agent for AD with CCH via targeting multiple key pathways of the disease pathogenesis

Preventive Effect of Nutrition Support on Peroneal Neuropathy in Cancer Patients

Background: The occurrence of peroneal neuropathy was reported to be higher in cancer patients than in non-cancer patients. Cancer patients should have their nutritional intake carefully managed in order to minimize weight loss and avoid the occurrence of peroneal neuropathy. However, the effect of nutrition support on the prevention of peroneal neuropathy is not understood.Aims: The present study aimed to assess epidemiologically the effect of nutrition support on the occurrence of peroneal neuropathy in cancer patients.Methods: We performed a retrospective case-control study in 178,597 cancer patients admitted to Shizuoka Cancer Center Hospital from 2002 to 2017. The rates of peroneal neuropathy were assessed between the 8-year period before nutrition support started and the 7-year period during which nutrition support performed.Results: Twenty-nine and 14 cases of peroneal neuropathy occurred in the periods without and with nutrition support, respectively. Compared with the period without nutrition support, the risk of peroneal neuropathy decreased by 62% during the period with nutrition support (odds ratio, 0.38; 95% confidence interval, 0.18–0.74; P < 0.05).Conclusion: Our study suggests the preventive effects of nutrition support on peroneal neuropathy in cancer patients

Very rare solitary primary peripheral nerve onset cytotoxic molecule-positive peripheral T-cell lymphoma (PTCL)

Here we present the first report of solitary primary peripheral nerve onset cytotoxic molecule (CM)-positive peripheral T-cell lymphoma (PTCL) diagnosed after nerve biopsy. An 84-year-old female with rheumatoid arthritis (RA) complained of asymmetric severe tenderness in her upper limbs. The biopsy pathology revealed a direct invasion of CM-positive PTCL. When RA patients complain of numbness, tenderness, or weakness, lymphomatic peripheral nerve invasion should be considered

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation

RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A) domain coded by a repeat sequence. Since none of the known mutations causing CCD characterised to date map in the glutamine repeat region, we hypothesised that Q-repeat mutations may be related to a more subtle bone phenotype. We screened subjects derived from four normal populations for Q-repeat variants. A total of 22 subjects were identified who were heterozygous for a wild type allele and a Q-repeat variant allele: (15Q, 16Q, 18Q and 30Q). Although not every subject had data for all measures, Q-repeat variants had a significant deficit in BMD with an average decrease of 0.7SD measured over 12 BMD-related parameters (p = 0.005). Femoral neck BMD was measured in all subjects (&minus;0.6SD, p = 0.0007). The transactivation function of RUNX2 was determined for 16Q and 30Q alleles using a reporter gene assay. 16Q and 30Q alleles displayed significantly lower transactivation function compared to wild type (23Q). Our analysis has identified novel Q-repeat mutations that occur at a collective frequency of about 0.4%. These mutations significantly alter BMD and display impaired transactivation function, introducing a new class of functionally relevant RUNX2 mutants.<br /

A Unique Case of Encephalopathy with an Elevated IgG-4 and Extremely High Interleukin-6 Level and Delayed Myelodysplastic Syndrome

We herein report a 75-year-old man who developed disturbed consciousness with polynuclear cell dominant pleocytosis and low glucose and extremely high interleukin (IL)-6 levels in his cerebrospinal fluid. The biopsy specimen from his right supraclavicular lymph node showed the infiltration of inflammatory cells positive for IgG, IgG4 and IL-6. Prednisolone and azathioprine administered under suspicion of IgG4-related disease (IgG4-RD) or multicentric Castleman's disease (MCD) successfully remitted the symptoms. However, he developed myelodysplastic syndrome (MDS) and died 18 months later. The extremely high IL-6 may have been related to the rare neurological manifestations and development of MDS in the present case

Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C

Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN gene (WRN). Most Japanese WS patients are born from a consanguineous marriage with homozygous WRN mutations. We herein report a rare WS patient born from non-consanguineous parents with compound heterozygous WRN mutations with a novel heterogeneous c.1720+1G>A substitution plus the most frequent heterogeneous c.3139-1G>C substitution among Japanese. Although the present case showed clinical characteristics common to previous Japanese WS patients, he had not developed any malignant tumors as of 43 years of age, suggesting that WS patients with this particular genetic mutation have a different phenotype than others

A Study of the Distributions of Two Endangered Sea Skaters Halobates matsumurai

There exist surprisingly few marine insects, most of which are confined to the intertidal zone. Halobates is the only genus to have some oceanic species along with some coastal species. Among the coastal sea skaters, that is, genus Halobates and its close relative, genus Asclepios, there are variations in their affinity for the shore. We have studied the distributions of two endangered Japanese sea skaters, Halobates matsumurai and Asclepios shiranui in Kujukushima, where they cooccur in coves. To compare their survival strategies at sea, we especially noted differences in their distributions along the shore during high and low tides. The results show that A. shiranui tended to remain along the shore during low tide. This species appeared to cling to the shore against the ebb current and to stay in the protected coves. By contrast, H. matsumurai tended to leave the shore during low tide. Notably, some adults were found skating outside the coves. The strategy of H. matsumurai appeared to be leaving with the ebb current even beyond the coves, thereby using more resources and enlarging its habitat. Some such coastal Halobates might have acquired the ability to live on the open ocean clearly independent of the shoreline