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SRPKIN-1 as an inhibitor against hepatitis B virus blocking the viral particle formation and the early step of the viral infection
Get PDF浜松医科大学博士（医学）doctoral医学系研究科thesi
Optimal method for measuring invasive size that predicts survival in invasive mucinous adenocarcinoma of the lung
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Cognitive impairment in a complex family with AAGGG and ACAGG repeat expansions in RFC1 detected by ExpansionHunter Denovo
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科thesi
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
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Coarse-graining of perplexity for the spatial distribution of molecules
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Dislocation rate and its risk factors in total hip arthroplasty with concurrent extensive spinal corrective fusion with pelvic fixation for adult spinal deformity
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科thesi
Effect of remimazolam versus sevoflurane on intraoperative hemodynamics in noncardiac surgery: a retrospective observational study using propensity score matching
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科Background This study compared the effects of remimazolam and sevoflurane on intraoperative hemodynamics including intraoperative hypotension (IOH).
Results This study involved adult patients undergoing noncardiac surgery using remimazolam (Group R) or sevoflurane (Group S) for maintenance anesthesia, and invasive arterial pressure measurements, from September 2020 to March 2023 at our hospital. IOH was defined as a mean blood pressure < 65 mmHg occurring for a cumulative duration of at least 10 min. A 1:1 propensity score-matching method was used. The primary endpoint was the occurrence of IOH, and the secondary endpoints were the cumulative hypotensive time, incidence of vasopressor use, and dose of vasopressor used (ephedrine, phenylephrine, dopamine, and noradrenaline). Group R comprised 169 patients, Group S comprised 393 patients, and a matched cohort of 141 patients was created by propensity score matching. There was no significant difference in the incidence of IOH between the two groups (85.1% in Group R vs. 91.5% in Group S, p=0.138). Patients in Group R had a significantly lower cumulative hypotension duration (55 [18–119] vs. 83 [39–144] min, p=0.005), vasopressor use (81.6% vs. 91.5%, p=0.023), and dose of ephedrine (4 [0–8] vs. 12 [4–20] mg, p<0.001) than those in Group S. There were no significant differences in the doses of other vasopressors between groups.
Conclusions Compared with sevoflurane, the maintenance of anesthesia with remimazolam was not associated with a decreased incidence of IOH; however, it reduced the cumulative hypotension time, incidence of vasopressor use, and dose of ephedrine.doctoral thesi
Cognitive impairment in a complex family with AAGGG and ACAGG repeat expansions in RFC1 detected by ExpansionHunter Denovo
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科Background and Objectives
We investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration (SCD), with multiple affected members for 3 generations.
Methods
After excluding DNA repeat expansion (RE) of common SCD genes by fragment analysis, we performed whole-exome sequencing (WES) and whole-genome sequencing (WGS). Homozygosity mapping was performed using these data. REs were investigated with WGS data using ExpansionHunter Denovo and Expansion Hunter.
Results
WES and WGS were unable to identify likely pathogenic variants, and homozygosity mapping failed to narrow down the locus. However, ExpansionHunter Denovo detected REs in intron 2 of the RFC1 gene and led us to the diagnosis of RFC1-related disorders. Subsequent repeatprimed PCR and Southern blot hybridization analyses revealed that 3 of 6 patients and 1 suspected individual had expansions of AAGGG ((AAGGG)exp) and (ACAGG)exp repeats in a compound heterozygous state and 3 had a homozygous (ACAGG)exp. The patients showed a variety of clinical features, including adult-onset ataxia, sensorimotor neuropathy, head tremor, parkinsonism, dystonia, and cognitive impairment. A comparison of previous reports with those of the family in study suggested that motor neuropathy could be a feature of compound heterozygous patients and biallelic (ACAGG)exp patients. Cognitive function tests showed cognitive impairment with a predominance of frontal lobe dysfunction. Examination of MRI, SPECT, and 18F-fluorodeoxyglucose-PET showed clear cortical damage with frontal lobe predominance in 1 case, but no cerebral damage was evident in the other 2 cases.
Discussion
Our report shows the usefulness of WGS and RE detection tools for SCD of unknown cause. The studied family with RFC1-related disorders included patients with (ACAGG)exp and (AAGGG)exp in a compound heterozygous state and was characterized by motor neuropathy. Based on the results of cognitive function tests and imaging studies, 1 patient presented with cognitive impairment due to frontal lobe metabolic changes, but there were also patients who presented with cognitive impairment without apparent cerebral metabolic or blood flow, suggesting that other factors are also associated with cognitive impairment.doctoral thesi
