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Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy. Individuals with WS initially present with autoantibody-negative type 1 DM (type 1B DM; T1BDM). The diagnosis is often delayed or misdiagnosed, even after visual impairment becomes apparent. We report a case of WS diagnosed by ophthalmologic screening before the appearance of visual impairment. A 7-year-old male patient developed T1BDM at the age of 3 years. At 6 years of age, his endogenous insulin secretion decreased but was not completely absent, and glycemic control was good with insulin treatment. Fundus examination at that time revealed optic nerve head pallor, and WFS1 gene analysis confirmed a compound heterozygous variant (c.2483delinsGGA/c.1247T>A). Ophthalmological screening can help in early diagnosis of WS in T1BDM, especially when endogenous insulin secretion is preserved, which would facilitate effective treatment.

Abstract Background Extraction of the mandibular third molar, the most frequent and important surgical procedure in the clinical practice of oral surgery, is associated with the risk of injury of the lingual nerve. Neuropathy of the lingual nerve poses diagnostic challenges regarding the transient or permanent nature of the injury. No consensus or criteria have been established regarding the diagnosis of lingual nerve neuropathy. We applied both Tinel’s test and clinical neurosensory testing together, which can be easily used at the bedside in the early stages of injury. Therefore, we propose a new method to differentiate between lesions with the ability to heal spontaneously and those that cannot heal without surgery. Results Thirty-three patients (29 women, 4 men; mean age, 35.5 years) were included in this study. For all patients, the median interval between nerve injury and initial examination was 1.6 months and that between nerve injury and the second examination before determining the need for surgical management was 4.5 months. The patients were assigned to either group A or B. The spontaneous healing group (group A, n = 10) revealed a tendency for recovery within 6 months after tooth extraction. In this group, although there were individual differences in the degree of recovery, a remarkable tendency for recovery was observed based on clinical neurosensory testing in all cases. None of the patients were diagnosed with allodynia. In seven cases, the Tinel test result was negative at the first inspection, and in three cases, the result changed to negative at the second inspection. Conversely, in group B(n = 23), no recovery trend was observed with regard to clinical neurosensory testing, and nine patients had allodynia. Further, the Tinel test result was positive for all patients in both examinations. Conclusions Our findings indicate that in case of transient lingual nerve paralysis, clinical neurosensory testing findings deteriorate immediately after tooth extraction and gradually recover, while Tinel’s test shows a negative result. Using Tinel’s test and clinical neurosensory testing together enabled early and easy identification of the severity of the lingual nerve disorder and of lesions that would heal spontaneously without surgical management.

Aortic and valvular calcification are well-known risk factors for cardio-cerebrovascular events in patients undergoing hemodialysis. We investigated the clinical impact of an angulated aorto-septal angle as a result of aortic elongation due to aortic calcification on cardio-cerebrovascular outcomes in patients undergoing hemodialysis. We investigated 306 patients (mean age 65.4 years, 68% male) who underwent pre-scheduled routine echocardiography between April and September 2018. The angle between the anterior wall of the aorta and the ventricular septal surface (ASA) was quantified. We determined aortic and mitral valve calcification scores based on calcified cardiac changes; the aortic and mitral valve scores ranged between 0-9 and 0-6, respectively. The primary endpoint was a composite including cardio-cerebrovascular events and cardio-cerebrovascular death. The mean duration of dialysis among the patients in this analysis was 9.6 years. The primary endpoint was observed in 54 patients during the observational period (median 1095 days). Multivariable Cox proportional hazards analyses identified left ventricular ejection fraction (per 10% increase: hazard ratio [HR] 0.67; 95% confidential interval [CI] 0.53-0.84, P = 0.001), left ventricular mass index (per 10 g/m2 increase: HR 1.14; 95% CI 1.05-1.24, P = 0.001), ASA (per 10 degree increase: HR 0.69; 95% CI 0.54-0.88; P = 0.003), and aortic valve calcification score (HR 1.15; 95% CI 1.04-1.26, P = 0.005) as independent determinants of the primary endpoint. Kaplan-Meier analysis showed a higher incidence of the primary endpoint in patients with ASA

Abstract Background No studies have compared the outcomes of direct perineurial suture with vein graft cuff repair and indirect collagen allograft repair of the lingual nerve following an injury. Therefore, we evaluated and compared the outcomes of each over a 1-year observation period. We retrospectively assessed 20 patients who had undergone microneurosurgical repair of unilateral lingual nerve injuries at the Wakayama Medical University Hospital between May 2015 and March 2019. We utilized two different methods for lingual nerve repair, i.e., direct perineurial repair with a vein graft cuff and interpositional collagen allograft repair. Sensory and taste function in the lingual nerve were preoperatively evaluated using a static two-point discrimination test, superficial pain/tactile sensation test, tests for the pressure pain threshold (Semmens-Weinstein monofilament), test for thermal discrimination hot and cold sensation, and a taste discrimination test. These tests were performed again at 6 and 12 months postoperatively. Results Compared to the preoperative conditions, all patients showed improved sensory reactions. Functional sensory recovery outcomes were defined by Pogrel’s criteria, Medical Research Council Scale grades, and functional sensory recovery. In each group, all patients improved after the operation. However, the operation time was significantly shorter for an interpositional collagen allograft repair as compared to that for a direct perineurial repair with a vein graft cuff. Conclusions There were no statistically significant differences between the two repair Methods, except for the operation time. Both methods led to satisfactory results for all criteria. From an economic point of view, direct perineurial repair with a vein graft cuff is meaningful; however, the esthetic effect on the donor site should be considered. Conversely, interpositional collagen allograft repair has the advantage of a greatly shortened operation time.

Background: Febrile urinary tract infection (fUTI) is the most common serious bacterial infection in children. Despite this, there have been no studies examining the clinical features of pediatric fUTI in Japan. The purpose of this study was to describe the clinical characteristics of fUTI in Japanese children. Methods: A multicenter, retrospective, observational study was conducted at 21 hospitals in Japan. Children under the age of 15 years who were diagnosed with fUTI between 2008 and 2017 were included. The diagnostic criteria were a temperature over 38 °C and the presence of a single bacterial pathogen in urine culture. Patient characteristics were obtained from medical records. Results: In total, 2,049 children were included in the study. The median age was 5 months, and 59.3% were male. It was found that 87.0% of the males and 53.2% of the females were under 1 year of age. The main causative pathogens identified were Escherichia coli and Enterococcus spp., accounting for 76.6% and 9.8% of infections, respectively. Conclusions: There was a male predominance of fUTI in Japanese children, particularly in infants. Enterococcus spp. were the second most frequent causative pathogen; therefore, Gram staining of urine samples is strongly recommended before initiating antibiotic therapy.

Abstract Skin care against aggravating factors is important to prevent skin lesions from flare‐up in the treatment of atopic dermatitis (AD). Tannic acid (TA), a natural polyphenolic and protein‐denaturing agent, has activity to denature antigens relevant to the AD flare. To assess the efficacy of a bath additive containing TA (TA‐bath additive) on pruritus of AD, we carried out a randomized double‐blind trial, in which 21 patients with AD completed the blinded sequential treatments with the TA‐bath additive and a bath additive without TA (placebo‐bath additive) in a cross‐over manner. A significant improvement of pruritus was observed in the afternoon and night by using the TA‐bath additive and in the afternoon by the placebo‐bath additive in patients with AD. No superiority of the TA‐bath additive to the placebo was revealed in the overall patient cohort. However, the added TA in the bath additive exerted its efficacy especially on itch at night in patients with mild‐to‐moderate disease. Bathing by using the series of the bath additive with TA and that without TA improved AD skin lesions throughout this study. No adverse effects related to the use of the TA‐ and placebo‐bath additives were observed. In conclusion, the bath additive containing TA may help skin care of patients with itch and skin lesions of the mild AD.

Following food scandals involving melamine during 2007–2008, health risks from human exposure to this compound received worldwide attention. Since then several studies have reported sources of melamine exposure in humans. In this pilot study, leaching of melamine and cyanuric acid from melamine-based bowls was tested under normal cooking conditions. Four brands of melamine bowls (n = 10) were purchased randomly from among many similar products available in the market. Water-based simulants were used in leaching tests under four conditions; water at room temperature (25 °C), hot water (90–100 °C), 1% acetic acid in water (v/v), and 10% methanol in water (v/v). The concentrations of melamine leached from bowls were reported on the basis of the surface area that came in contact with the leaching solution. The highest concentration of melamine leached was 0.37–70.2 ng/cm2 found in hot water, followed by water at room temperature (

The clinical impact of ABO blood type on cardio-cerebrovascular outcomes in patients undergoing dialysis has not been clarified. A total of 365 hemodialysis patients participated in the current study. The primary endpoint was defined as a composite including cardio-cerebrovascular events and cardio-cerebrovascular death. The primary endpoint was observed in 73 patients during a median follow-up period of 1182 days, including 16/149 (11%) with blood type A, 22/81 (27%) with blood type B, 26/99 (26%) with blood type O, and 9/36 (25%) with blood type AB. At baseline, no difference was found in the echocardiographic parameters. Multivariable Cox regression analyses revealed that blood type (type A vs. non-A type; hazard ratio (HR): 0.46, 95% confidence interval (95% CI): 0.26–0.81, p = 0.007), age (per 10-year increase; HR: 1.47, 95% CI: 1.18–1.84), antiplatelet or anticoagulation therapy (HR: 1.91, 95% CI: 1.07–3.41), LVEF (per 10% increase; HR: 0.78, 95% CI: 0.63–0.96), and LV mass index (per 10 g/m2 increase; HR: 1.07, 95% CI: 1.01–1.13) were the independent determinants of the primary endpoint. Kaplan–Meier curves also showed a higher incidence of the primary endpoint in the non-A type than type A (Log-rank p = 0.001). Dialysis patients with blood type A developed cardio-cerebrovascular events more frequently than non-A type patients.

Phase change material (PCM), which enables heat storage based on phase transition, plays an important role for efficient energy utilization. This paper briefly describes our recent study about all-solid PCM by combination of vanadium dioxide (VO2) with latent heat storage capacity and multicomponent glass, i.e., VO2-dispersed glass. A B2O3-P2O5-V2O5 glass system is used as a matrix for the VO2-dispersed glass. An attempt to describe its latent heat storage function is given. Endothermic behavior due to structural phase transition of the VO2 crystals was observed in the VO2-dispersed sample, and the transition enthalpy corresponding to latent heat storage capacity was estimated to be ΔH~9.5 J/g. The value of the studied sample was larger than the value of dispersed glass in the BaO-TeO2-V2O5 system that was previously reported. Potential for PCM was considered in the studied sample.

Multiplication and rearrangement of dislocations in face-centered cubic (FCC) metals during tensile deformation are affected by grain size, stacking fault energy (SFE), and solute elements. X-ray diffraction (XRD) line-profile analysis can evaluate the dislocation density (ρ) and dislocation arrangement (M) from the strength of the interaction between dislocations. However, the relationship between M and ρ has not been thoroughly addressed. In this study, multiplication and rearrangement of dislocations in FCC metals during tensile deformation was evaluated by XRD line-profile analysis. Furthermore, the effects of grain size, SFE, and solute elements on the extent of dislocation rearrangement were evaluated with varying M values during tensile deformation. M decreased as the dislocation density increased. By contrast, grain size and SFE did not exhibit a significant influence on the obtained M values. The influence of solute species and concentration of solute elements on M changes were also determined. In addition, the relationship between dislocation substructures and M for tensile deformed metals were also explained. Dislocations were loosely distributed at M > 1, and cell walls gradually formed by gathering dislocations at M < 1. While cell walls became thicker with decreasing M in metals with low stacking fault energy, thin cell walls with high dislocation density formed for an M value of 0.3 in metals with high stacking fault energy.

White X-ray microbeam diffraction was applied to investigate the microscopic deformation behavior of individual grains in a Cu-Al-Mn superelastic alloy. Strain/stresses were measured in situ at different positions in several grains having different orientations during a tensile test. The results indicated inhomogeneous stress distribution, both at the granular and intragranular scale. Strain/stress evolution showed reversible phenomena during the superelastic behavior of the tensile sample, probably because of the reversible martensitic transformation. However, strain recovery of the sample was incomplete due to the residual martensite, which results in the formation of local compressive residual stresses at grain boundary regions.

The effects of boron doping on the microstructural evolution and mechanical and electrical properties of age-hardenable Cu–4Ti (at.%) alloys are investigated. In the quenched Cu–4Ti–0.03B (at.%) alloy, elemental B (boron) is preferentially segregated at the grain boundaries of the supersaturated solid-solution phase. The aging behavior of the B-doped alloy is mostly similar to that of conventional age-hardenable Cu–Ti alloys. In the early stage of aging at 450 °C, metastable β′-Cu4Ti with fine needle-shaped precipitates continuously form in the matrix phase. Cellular discontinuous precipitates composed of the stable β-Cu4Ti and solid-solution laminates are then formed and grown at the grain boundaries. However, the volume fraction of the discontinuous precipitates is lower in the Cu–4Ti–0.03B alloy than the Cu–4Ti alloy, particularly in the over-aging period of 72–120 h. The suppression of the formation of discontinuous precipitates eventually results in improvement of the hardness and tensile strength. It should be noted that minor B doping of Cu–Ti alloys also effectively enhances the elongation to fracture, which should be attributed to segregation of B at the grain boundaries.

Although KCNJ11 mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to KCNJ11 are rare. Here, we report a case of KCNJ11-MODY in a 12-yrold Japanese female. Hyperglycemia was initially detected during a school urine screening program. Subsequent laboratory examinations revealed impaired insulin secretion; however, no islet autoantibodies were detected. Genetic testing of KCNJ11 revealed a novel heterozygous variant, c.153G>C, p.Glu51Asp. The patient's father had the same mutation and was diagnosed with diabetes at 46 yr of age. KCNJ11-MODY was suspected, and sulfonylurea administration resulted in adequate glycemic control in the patient. The American College of Medical Genetics and Genomics guidelines classify this variant as likely pathogenic, and the effectiveness of sulfonylureas supports its pathogenicity. The patient could be treated with 0.02-0.03 mg/kg/d of glibenclamide, as this mutation may be responsive to only a small amount of sulfonylurea. A detailed family history and sequencing of causative genes, including KCNJ11, may help diagnose diabetes in school-aged patients. [ABSTRACT FROM AUTHOR]

Since Cu exhibits the highest electrical conductivity among base metals and common metals, pure Cu and dilute Cu alloys are widely used as functional materials for electrical components and power transmission materials. It is also expected that in the future, conductive pure Cu and Cu alloys will continue to be used according to the desired properties by understanding inherent characteristics of pure Cu and Cu alloys. This paper reviews factors such as the contribution of lattice defects and solute elements to the electrical conductivity of pure copper, and factors affecting strengthening processes such as precipitation hardening, solid solution hardening, and work hardening in dilute Cu alloys. In precipitation hardening, the type and amount of alloying elements added and the precipitation treatment are adjusted, but softening of the Cu alloy due to overaging must be avoided. In solid solution hardening, the type and amount of alloying elements are also optimized, often in combination with work hardening. Although work hardening generally results in changes in elongation and strength after processing, the decrease in electrical conductivity due to dislocations is small. Therefore, it is effective to combine work hardening with solid solution hardening and other processes. Microstructural characterization using analytical techniques have been conducted to elucidate the electrical conductivity and strengthening mechanisms of these alloys. Their findings are useful in controlling the conductive and mechanical properties of advance Cu alloys. This review also demonstrates the usefulness of these characterization methods. [ABSTRACT FROM AUTHOR]