Objective: Sitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 (ABCG5) or ATP-binding cassette sub-family G member 8 (ABCG8). There are only few data on the pathogenicity of ABCG5 and ABCG8. This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia. Methods: This study enrolled 377 consecutive Japanese patients with hyper-low-density lipoprotein cholesterolemia (mean age: 46.5±19.8 years, with 192 men) who have targetedsequenced data on ABCG5 or ABCG8 (among 21 Mendelian lipid genes for any dyslipidemias) and serum sitosterol levels at Kanazawa University Hospital from 2016 to 2021. Serum sitosterol levels were divided by 0.79 in patients treated with ezetimibe, accounting for the average reduction with this drug. ABCG5 or ABCG8 variants were defined as putative pathogenic if associated with serum sitosterol levels ≥5 µg/mL or homozygous if associated with serum sitosterol levels ≥10 µg/mL. Results: Twenty-three ABCG5 or ABCG8 variants (16 missense, 2 nonsense, 2 frameshift, 2 deletion, and 1 splice mutation) were identified. Based on our definition, 11 putative pathogenic variants (median sitosterol level: 10.1 [6.5–17.1] µg/mL) were found in 36 individuals and 12 benign variants (median sitosterol: 3.5 [2.5–4.1] µg/mL) in 14 individuals. Conclusion The scheme proposed for assessing the pathogenicity of genetic variations (ABCG5 and ABCG8) is useful. Using this scheme, 11 putative pathogenic, and 12 benign variants in ABCG5 or ABCG were classified.

No abstract available.
Rupture ; Transcatheter Aortic Valve Replacement

No abstract available.
Transcatheter Aortic Valve Replacement

BACKGROUND/AIMS: Noninvasive liver fibrosis evaluation was performed in patients with nonalcoholic fatty liver disease (NAFLD). We used a quantitative method based on the hepatic volume acquired from gadoxetate disodium-enhanced (Gd-EOB-DTPA-enhanced) magnetic resonance imaging (MRI) for diagnosing advanced fibrosis in patients with NAFLD. METHODS: A total of 130 patients who were diagnosed with NAFLD and underwent Gd-EOB-DTPA-enhanced MRI were retrospectively included. Histological data were available for 118 patients. Hepatic volumetric parameters, including the left hepatic lobe to right hepatic lobe volume ratio (L/R ratio), were measured. The usefulness of the L/R ratio for diagnosing fibrosis ≥F3–4 and F4 was assessed using the area under the receiver operating characteristic (AUROC) curve. Multiple regression analysis was performed to identify variables (age, body mass index, serum fibrosis markers, and histological features) that were associated with the L/R ratio. RESULTS: The L/R ratio demonstrated good performance in differentiating advanced fibrosis (AUROC, 0.80; 95% confidence interval, 0.72 to 0.88) from cirrhosis (AUROC, 0.87; 95% confidence interval, 0.75 to 0.99). Multiple regression analysis showed that only fibrosis was significantly associated with the L/R ratio (coefficient, 0.121; p<0.0001). CONCLUSIONS: The L/R ratio, which is not influenced by pathological parameters other than fibrosis, is useful for diagnosing cirrhosis in patients with NAFLD.
Body Mass Index ; Fibrosis* ; Humans ; Liver Cirrhosis ; Magnetic Resonance Imaging ; Methods ; Non-alcoholic Fatty Liver Disease* ; Retrospective Studies ; ROC Curve

Objective: Patients treated with vinorelbine(VNR)-containing chemotherapy often suffer from injection site reactions.  VNR is a moderate vesicant that is well known to cause local venous damage.  We conducted this study to identify clinical risk factors related to the incidence of injection site reactions caused by VNR, and whether applying a hot compress was effective for preventing such reactions.
Methods: Medical records were retrospectively investigated for 48 patients treated with chemotherapy regimens containing VNR.  Injection site reactions were evaluated for every course and were graded according to the National Cancer Institute Common Toxicity Criteria (version 4.0).  Gender, age, body mass index, chemotherapy regimen, dose of VNR, and volume of fluid for flushing the vein were assessed as clinical variables.  A hot compress was applied to the vein proximal to the injection site during VNR injection.
Results: The injection site reactions occurred in 29 (60%) among 48 patients received intravenous VNR injection.  According to multivariate analysis, use of gemcitabine (GEM) in combination with VNR showed a significant independent correlation with an increased risk of injection site reactions (p=0.019).  When hot compress was applied to 21 patients, who experienced phlebitis of VNR, the injection site reaction was occurred to only three patients (p<0.001).
Conclusion: In this study, the risk factor of the injection site reaction by VNR seems to be combination of GEM.  Application of hot compresses was effective for preventing injection site reactions by VNR.

OBJECTIVE: Electroconvulsive therapy (ECT) has proven to be effective in treatment-resistant depression (TRD). In recent reports, 70% to 90% of patients with TRD responded to ECT. However, post-ECT relapse is a significant problem. There are no studies investigating risk factors associated with reintroducing ECT in depressive patients after remission previously achieved with former ECT. The aim of the present study is to examine such risk factors using a sample of TRD patients. METHODS: We conducted a chart review to examine patient outcomes and adverse events over short- and long-term periods. Forty-two patients met the criteria for major depressive disorder. RESULTS: The response rate was 85.7% (36/42). There were no significant differences in the baseline characteristics of patients exhibiting remission, response or non-response. The rate of adverse events was 21.4% (9/42). Among 34 patients who were available for follow-up, 18 patients relapsed (relapse rate, 52.9%), and 6 patients were reintroduced to ECT. The patients' age and age of onset were significantly higher in the re-ECT group than non re-ECT group. CONCLUSION: Our results suggest that older age and older age of onset might be considered for requirement of re-ECT after remission previously achieved with former ECT.
Age of Onset ; Aging ; Depression ; Depressive Disorder, Treatment-Resistant ; Electroconvulsive Therapy ; Follow-Up Studies ; Humans ; Recurrence ; Risk Factors

[Objective]Daily repetitive exercise is known to be necessary for players in sports. In this study, to further explore the potential functions of acupuncture, we studied whether electroacupuncture (EA) stimulation has efficacy for repetitive exercise-induced oxidative stress.
[Methods]Six healthy male volunteers participated in both the non-treatment control group and the EA group in a crossover design. EA stimulation was applied to both the medial vastus muscles at 2 Hz and optimum intensity for each subject during ten min just before each exercise period. The subject performed ergometer exercise for 20 min with 75%of maximal oxygen uptake each day. This exercise period was performed once a day for three consecutive days. Blood lactate level (BLL) and plasma lipid peroxide (LP) concentration were measured as the markers for metabolism and oxidative stress, respectively. Visual Analogue Scale (VAS) was used to evaluate the individual level of fatigue due to exercise.
[Results]During and just after the exercise period, each value of BLL in the EA group was lower than the same points in the control group. Whereas LP concentrations before the exercise period on the first day in the control group was higher than the values in the same points on the second and third days. LP concentrations before the exercise period in the EA group were almost the same levels for three days. Furthermore, after the exercise period for the three consecutive days, LP concentrations and VAS in the EA group were lower than each value of the same points in the control group, and especially, the alteration of VAS showed a significant difference.
[Conclusion]The increased tendency of LP concentrations before the exercise period for three days in the control group indicated that repetitive exercise induced the accumulation of excess lipid peroxide. It might be suggested that EA stimulation suppressed subjective fatigue by an enhanced energy metabolic rate and decreased production of lipid peroxide. Hence the evidence strongly supported that EA stimulation might be useful for sports conditioning.