Abstract.The primary goal of newborn mass screening (MS) for congenital adrenal hyperplasia (CAH) is the prevention of life-threatening salt-wasting crisis in the most severe forms of CAH, and MS for CAH has been implemented in several countries. We summarize here our experience and results from newborn CAH MS from 1982 to 2010 in Sapporo City. During these 28 yr, the level of 17-hydroxyprogesterone (17-OHP) was determined in MS of samples from 498,147 newborns. During this period, 26 individuals (19 females and 7 males) with 21-hydroxylase deficiency (21-OHD) were detected. Of the 26 CAH, 20 were classified as having the salt-wasting (SW) form, 4 were classified as having the simple virilizing (SV) form, and 2 were classified as having the noncalssic (NC) form. Therefore, the frequency of the classical type of CAH was 1 in 20,756. In order to improve the effectiveness, we employed high-performance liquid chromatography (HPLC) as a second tier test from 2000. During this period, among the recalled babies, 75.4% were born prior to the 37th wk of gestation age, and the recall rate was 5.38% for premature neonates and 0.06% for mature neonates. MS for CAH in Sapporo is effective for the identification of the SW and SV forms of 21-OHD. However, the recall rate of premature babies is still high after the introduction of HPLC as a second tier test.

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A 19-year-old woman with suicidal thoughts consumed 24 anhydrous caffeine tablets and was admitted to our hospital. After being discharged from the hospital, her oral intake remained impaired because of retrosternal pain and she was readmitted. An upper gastrointestinal endoscopy revealed diffuse ulcers throughout the mid-to-lower esophagus; the patient was diagnosed with caffeine-induced esophagitis. She recovered soon after conservative treatment. A follow-up endoscopy performed 1 month after the patient was discharged showed that the ulcers had healed. This case highlights the risk of esophageal injuries after ingesting excessive caffeine tablets, which were sold as dietary supplement without a prescription. Our experience indicates that endoscopic surveillance is advisable to prevent severe complications if a patient presents with esophageal symptoms suggestive of chemical esophagitis.

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Aim This study aimed to clarify the influence of functional atherosclerosis on the association between periodontitis and chronic kidney disease (CKD). Materials and Methods A cross‐sectional study of 998 older Japanese individuals aged 60–99 years who participated in an oral health check‐up was conducted. Early and advanced periodontitis were defined as periodontal pocket depth of 4.0–5.9 mm and ≥6.0 mm, respectively. Functional atherosclerosis was defined as cardio‐ankle vascular index ≥9.0. Results Of the 998 study participants, 238 (23.8%) had CKD. No significant associations between periodontitis and CKD were observed in participants without functional atherosclerosis. After adjusting for known cardiovascular risk factors, the odds ratio (OR) (95% confidence interval [CI]) was 1.31 (0.81–2.11) for early periodontitis and 0.74 (0.41–1.34) for advanced periodontitis. Significant positive associations were observed for participants with functional atherosclerosis; the adjusted ORs (95% CIs) were 1.76 (1.04–3.01) for early periodontitis and 1.95 (1.05–3.63) for advanced periodontitis. Conclusions A significant positive association between periodontitis and CKD was established for older participants with functional atherosclerosis. No significant associations were observed for those without functional atherosclerosis. These results can help clarify the influence of periodontitis on systemic circulation.

Superior mesenteric artery (SMA) syndrome is related to the reduction of the aortomesenteric angle on detailed imaging studies; i.e., an expert's ultrasonography or angiography. We aimed to test a simpler imaging finding of SMA syndrome. This cross-sectional case-reference study examined whether right movement of the SMA on unenhanced computed tomography (CT) is useful for the diagnosis of SMA syndrome. We reviewed hospital records of patients admitted in 2008-2018. Each case was matched to one non-case patient of the same age and sex. On unenhanced CT scans, we identified the shortest distance between the parallel line that passes through the center of the aorta to the line that bisects the spine and SMA. A negative number of the distance means that the SMA is on the left side of the abovedescribed parallel line. There was a total of 14 cases and 14 non-cases (men, 57.1%) with mean age 78.7 years. Mean body mass index of cases and non-cases were 19.2 and 22.2 kg/m 2 , respectively. The more prevalent side of the SMA was the right side.The mean shortest distance was 10.5 mm in cases and 0.7 mm in non-cases (p for independent t test = 0.043). For comparing the observations in SMA cases at several time points, the mean shortest distance at pre-onset was À2.7 mm, with a significant difference from that at onset (p for paired t test = 0.030). In conclusion, right movement of the SMA diagnosed by unenhanced CT is associated with SMA syndrome.

Previous studies have reported a close correlation between vascular endothelial growth factor (VEGF), which plays an important role in angiogenesis, and human T-cell leukemia virus 1 (HTLV-1). However, an association between genetic characteristics related to VEGF and HTLV-1 infection has not yet been reported. Because the VEGF polymorphism rs3025039 is inversely associated with serum concentrations of VEGF, we focus on rs3025039 in the present study. To clarify the association between the VEGF polymorphism rs3025039 and HTLV-1 infection, a cross-sectional study of 1924 Japanese individuals aged 60–79 years who participated in general health check-ups was conducted. Using logistic regression, odds ratios (ORs) and 95% confidence intervals (CIs) for HTLV-1 infection in relation to rs3025039 genotype were calculated with adjustment for known confounders. Compared with rs3025039 CC-homozygotes, (T) allele carriers had a significantly lower OR for HTLV-1 infection. The adjusted OR and 95% CI for HTLV-1 infection was 0.70 (0.54–0.91) (p = 0.009). Genetic characteristics related to lower angiogenesis activity might be associated with a lower chance of establishing HTLV-1 infection. Although further investigation is necessary, angiogenesis might play a crucial role in the establishment of HTLV-1 infection.

In an aging society, it is important to visualize the conditions of people living with diseases or disabilities, such as frailty and sarcopenia, and determine the environmental and genetic factors underlying such conditions. Atherosclerosis and arterial stiffness are key conditions between these factors and noncommunicable diseases. In 2014, we launched a population-based prospective open-cohort study, the Nagasaki Islands Study (NaIS), which was conducted in Goto City, located in the remote islands of Nagasaki Prefecture, Japan, mostly involving middle-aged and older residents. We conducted our own health checkups along with the annual standardized checkups organized by the municipality; recruited study participants; and started to follow them for vital status (death), migration, and occurrence of diseases, such as myocardial infarction, stroke, fracture, and human T-cell leukemia virus type 1 (HTLV-1)-associated uveitis. Our checkups were conducted as baseline surveys in different areas of Goto City during the fiscal years 2014-2016, secondary surveys during 2017-2019, and tertiary surveys since 2021, consisting of medical interviews, physical examinations, blood and urine tests, body composition measurements, osteoporosis screening, arterial stiffness measurements, carotid ultrasonography, and dental examination. A total of 4,957 residents participated in either the baseline or secondary surveys and were followed; 3,594 and 3,364 residents (aged 27-96 and 28-98 years) participated in the baseline and secondary surveys, respectively. In conclusion, the NaIS has been undertaken to reveal the influence of aging and risk factors of noncommunicable diseases and disabilities, with an aim to contribute towards better healthcare in the future.