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Background: Metabolic syndrome (MetS) is associated with an increased risk of major cardiovascular events. Alanine aminotransferase (ALT) at high levels and total bilirubin (T-BiL) at low levels were oxidative potentials, but it was uncertain whether ALT and T-BiL had an additive interaction for the risk of MetS. Methods: From a single community, we recruited 864 women (70 ± 8 years) during their annual health examination. We cross-sectionally investigated whether ALT and T-BiL are associated with MetS and its components based on the modified criteria of the National Cholesterol Education Program's Adult Treatment Panel (NCEP-ATP) III report. Results: Of these subjects, 415 women (48.0%) had MetS. Participants with MetS had a higher ALT and lower T-BiL level than those without MetS. The adjusted-odds ratios (OR) (95% confidence interval [CI]) for MetS across tertiles of ALT and T-BiL were 1.00, 1.19 (0.78-1.81), and 1.86 (1.24-2.80) and 1.00, 0.96 (0.65-1.43), and 0.54 (0.36-0.81), respectively. When ALT and T-BiL were categorized into three binary characteristics by tertiles of ALT and T-BiL, high T-BiL was associated with decreased risk for MetS in a multivariable model (OR: 0.55, 95% CI: 0.37-0.82), especially among those with 1st tertile ALT. Similarly, high ALT was also associated with increased risk for MetS in a multivariate model (OR: 1.81, 95% CI: 1.20-2.71), especially among those with 2nd & 3rd tertiles of T-BiL. In the formal testing of addictive interaction between ALT and T-BiL for MetS, presence of T-BiL <0.72 mg/dL (1st and 2nd tertile) alone was not associated with increased risk of MetS in a multivariate analysis, and presence of ALT ≥16 IU/L (2nd and 3rd tertile) alone was not associated with increased risk of MetS. Conclusions: These results suggested that higher ALT and lower T-BiL levels were synergistically associated with MetS, independent of other confounding factors among Japanese women. [ABSTRACT FROM AUTHOR]

Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an autosomal dominant neurodegenerative disorder caused by mutations in the colony‐stimulating factor 1 receptor (CSF1R) gene. We, herein, report the first Japanese case of ALSP caused by a de novo p.Phe849del mutation in CSF1R: a 44‐year‐old man who presented callosal disconnection symptoms. Brain MRI revealed dilation of the lateral ventricles, periventricular white matter hyperintensities, and thinning of the corpus callosum with hyperintensities on T2‐weighted and FLAIR images. Brain single photon emission computed tomography (SPECT) showed hypoperfusion in the anterior corpus callosum. White matter lesions in MRI and hypoperfusion in SPECT increased with age. A brain biopsy at 44 years revealed axonal spheroids. Callosal disconnection symptoms and hypoperfusion in the anterior corpus callosum may be important indicators of ALSP, especially when caused by a p.Phe849del CSF1R mutation. [ABSTRACT FROM AUTHOR]

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In this report, we examined a 51-year-old female Japanese patient with frontotemporal dementia and amyotrophic lateral sclerosis. The patient began noticing gait disturbances at the age of 45 years. Neurological examination at the age of 46 years met the Awaji criteria for clinically probable amyotrophic lateral sclerosis. At the age of 49 years, she tended to have poor mood and an aversion to activity. Her symptoms gradually worsened. She required a wheelchair for transport and had difficulty communicating with others because of poor comprehension. She then began to frequently exhibit irritability. Eventually, she was admitted to the psychiatric hospital because uncontrollable violent behavior throughout the day. Longitudinal brain magnetic resonance imaging revealed progressive brain atrophy with temporal dominance, non-progressive cerebellar atrophy, and some non-specific white matter intensities. Brain single photon emission computed tomography showed hypoperfusion in the bilateral temporal lobes and cerebellar hemispheres. Clinical exome sequencing revealed the presence of a heterozygous nonsynonymous variant (NM&#95;007126.5, c.265C>T; p.Arg89Trp) in the valosin-containing protein gene, which was absent in the 1000 Genomes Project, the Exome Aggregation Consortium Database, and the Genome Aggregation Database, and was predicted to be "damaging" by PolyPhen-2 and "deleterious" using SIFT with a Combined Annotation Dependent Depletion score of 35. We also confirmed the absence of this variant in 505 Japanese control subjects. Therefore, we concluded that the variant in the valosin-containing protein gene was responsible for the symptoms of this patient., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Miura, Hiruki, Okada, Takei, Senzaki, Okada, Ochi, Tanabe, Ochi, Igase, Ohyagi and Shibata.)

Background: Few data is available on the association between body mass index (BMI), serum uric acid (SUA) levels and blood pressure (BP) categories in the disease continuum, when efforts for its prevention may be applicable., Methods: We performed a cross-sectional study to examine the association between BMI, SUA and BP in a community-dwelling sample of Japanese men. Individuals not on antihypertensive and uric acid lowering medications, and aged 50 to 90 years [817men aged 66 ± 9 (mean ± standard deviation) years] were recruited for the survey during a community based annual medical check-up. The main outcome was the presence of prehypertension [systolic BP (SBP) 120-139 mmHg and/or diastolic BP (DBP) 80-89 mmHg] and hypertension [SBP ≥ 140 and /or DBP ≥ 90]., Results: In participants with a BMI of < 21.0 kg/m 2 , increased SUA levels were positively associated with SBP and DBP, but in those with a BMI of ≥ 21.0 kg/m 2 , increased SUA levels were negatively associated with SBP and DBP. The interaction between BMI and SUA as well as BMI and SUA was a significant and independent determinant for both SBP (β = - 1.125, p  = 0.001) and DBP (β = - 0.995, p  = 0.005). Among participants, the respective prevalence of normotension, prehypertension, and hypertension was 19.5% and 53.7%, and 19.8%. The prevalence of normotension and prehypertension decreased with increasing BMI and the prevalence of hypertension increased with increasing BMI. In participants with a BMI ≥ 21.0 kg/m 2 , the adjusted-odds ratio of SUA for hypertension was 0.75 (95% CI, 0.59-0.95) compared with normotension and 0.82 (0.70-0.96) compared with prehypertension. In those with a BMI of < 21.0 kg/m 2 , these associations were not shown., Conclusion: BMI may modify the association between SUA and blood pressure status among community-dwelling men., Competing Interests: This study was approved by the ethics committee of Ehime University School of Medicine, and written informed consent was obtained from each subject.The author has given all rights for this manuscript to the publisher.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Abnormally high glycated hemoglobin (Hb) (HbA1c) is significantly associated with oxidative stress and an increased risk of cardiovascular disease (CVD). Serum total bilirubin (T-B) may have a beneficial role in preventing oxidative changes and be a negative risk factor of CVD. Limited information is available on whether serum T-B is an independent confounding factor of HbA1c. The study subjects were 633 men aged 70 ± 9 (mean ± standard deviation (SD)) years and 878 women aged 70 ± 8 years who were enrolled consecutively from among patients aged ≥40 years through a community-based annual check-up process. We evaluated the relationship between various confounding factors including serum T-B and HbA1c in each gender. Multiple linear regression analysis pertaining to HbA1c showed that in men, serum T-B ( β = -0.139) as well as waist circumference ( β = 0.099), exercise habit ( β = 0.137), systolic blood pressure (SBP) ( β = 0.076), triglycerides ( β = 0.087), and uric acid ( β = -0.123) were significantly and independently associated with HbA1c, and in women, serum T-B ( β = -0.084) as well as body mass index ( β = 0.090), smoking status ( β = -0.077), SBP ( β = 0.117), diastolic blood pressure (DBP) ( β = -0.155), low-density lipoprotein cholesterol ( β = 0.074), prevalence of antidyslipidemic medication ( β = 0.174), and uric acid ( β = 0.090) were also significantly and independently associated with HbA1c. Multivariate-adjusted serum HbA1c levels were significantly high in subjects with the lowest serum T-B levels in both genders. Serum T-B is an independent confounding factor for HbA1c among community-dwelling middle-aged and elderly persons., Competing Interests: Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Annual urinary screening is conducted at municipal kindergartens, elementary schools, and junior high schools in Ikeda City, Osaka, Japan (Ikeda City School System), and the results are reviewed by a general physician, but standards for when to recommend specialist referral have not been clear., Methods: In all children attending the Ikeda City School System in 2012, dipstick urinalysis of a first-morning urine specimen was recommended once or twice, and if a second urinalysis showed proteinuria (≥1+), the urinary protein/creatinine ratio was measured. If this showed ≥0.2 g/g of creatinine (g/gCr), it was recommended that the child be evaluated by a specialist at Ikeda City Hospital., Results: Urinary screening was performed in about 20% (388) of kindergarten, about 90% (5363) of elementary school, and about 86% (2523) of junior high school children living in Ikeda City. Urine samples were obtained from 387, 5349, and 2476 children, respectively. The urinary protein/creatinine ratio was ≥0.2 g/gCr in 13 children, including 1 elementary and 12 junior high children. In these 13 children, chronic nephritic syndrome (CNS) was suspected in 6 junior high school children, and of these, this was a new finding in 5, and renal biopsy was indicated in 3. In Ikeda City, the prevalence of CNS in elementary school children was <0.03%, the prevalence of CNS in junior high school children was 0.29%, and a renal biopsy was indicated in 0.14%. By eliminating the costs associated with assessment of the results by the Ikeda Medical Association, and by directly contracting with the testing company, the expenses paid by Ikeda City for the system itself decreased from 2,508,619 yen to 966,157 yen., Conclusions: Incorporating the urinary protein/creatinine ratio into the school urinary screening system in the Ikeda City School System and clarifying standards for specialist referral has enabled restructuring of the system so that is efficient and its effectiveness can be assessed.