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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 FROM AUTHOR]

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]

This article provides an overview of the incorporation and adsorption of arsenate and phosphate into iron oxides formed in aqueous solutions. Although arsenic (As) and phosphorus (P) and belong to the same group in the periodic table, As is usually toxic, whereas P is a biological element. Arsenate and phosphate ions can be incorporated into iron oxides through different routes, depending on the solution conditions. In aqueous solutions, the chemical state of Fe in iron oxides is FeII (ferrous) or FeIII (ferric), that of As is AsIII (arsenite) and AsV (arsenate), and that of phosphorus is PV (phosphate). The composition and structure of iron oxides, including ferric oxyhydroxides and hydroxides formed in aqueous solutions, are affected by solution conditions such as the electrochemical potential, pH, temperature, and the chemical state and composition of the relevant elements. Moreover, arsenate and phosphate ions are usually adsorbed on the surface of iron oxides in aqueous solutions, but the incorporation and adsorption of arsenate and phosphate ions in iron oxides cannot be easily explained using simple thermodynamic models. This is because these characteristics are accompanied by different stages of coprecipitation, incongruent dissolution of multicomponent iron oxides, and so on. Since hydrated iron-oxide particles are often very fine and poorly crystallized, they are difficult to filter. However, it has been shown that coarse polyhedral particles of hydrated iron oxide can be synthesized by oxidizing FeII ions. In addition, the coarse particles of hydrated iron oxide are transformed into agglomerates of fine FeIII oxides with a coarse outer shell by alkaline treatment, and these coarse porous iron-oxide particles exhibit good anion-adsorption capacity in aqueous solutions. The formation mechanisms of these different iron-oxide particles are discussed based on the results of the incorporation and adsorption of arsenate and phosphate ions in iron oxides in aqueous solutions. [ABSTRACT FROM AUTHOR]

Neonatal diabetes mellitus (NDM) is a rare metabolic disorder that is mainly present in the first 6 months of life and necessitates insulin treatment. Sensor-augmented pump (SAP) therapy has been widely used in children with type 1 diabetes mellitus, but its use in patients with NDM is limited. We report three patients with NDM who received SAP therapy using the MiniMed™ 640G system starting in the neonatal period. Two patients were treated for 3 months, and one patient continued treatment up to an age of 22 mo. The MiniMed 640G system can automatically suspend insulin delivery (SmartGuard™ Technology) to avoid hypoglycemia when the sensor glucose level is predicted to approach the predefined threshold. We suggest that SmartGuard Technology is particularly useful for infants in whom hypoglycemia cannot be identified. The MiniMed 640G system automatically records the trends of sensor glucose levels and the total daily dose of insulin, which can make the management more accurate and reduce the family's effort. SAP therapy for patients with NDM automatically prevents severe hypoglycemia and is useful for long-term management; however, attention should be paid to its application. [ABSTRACT FROM AUTHOR]

To process ingots of FeGa alloy single crystals into wafers, Fe17% Ga alloy crystals were cut using multi-wire sawing or electric discharging and rolling. Further, their properties of magnetization and magnetostriction were analyzed using electron backscatter diffraction (EBSD) and X-ray diffraction (XRD). It was observed that the magnetization and magnetostriction curves changed with increasing rolling reduction. Although magnetization was negligibly affected by deformation, the shape of the magnetostriction curve of the as-grown crystal could be modified by a slight reduction in rolling or a slight plastic deformation. EBSD results show that rolling introduced dislocations to form heterogeneous dislocation cell walls and decreased the surface roughness of the wafers. The pole figures obtained by XRD indicate that the samples were single crystals; however, the crystal orientation was different from the ideal orientation after rolling. Residual stress measurements using the cos ¡ method revealed that compressive and tensile stresses remained in the polycrystalline surface layers of the samples cut by multiwire sawing and electric discharging, respectively. Moreover, the stresses were affected by the tensile strains or magnetic fields when the residual stresses were relatively small in the sample. Although the magnetization and magnetostriction of a single crystal are affected by rolling, they are not significantly reduced by small rolling reductions. [ABSTRACT FROM AUTHOR]

The performance of vibration power generation using the inverse magnetostrictive effect increases with increasing its device size. In this study, grain-oriented electrical steel that can be largely produced was investigated as a core material, using a U-shaped unimorph device at a laboratory scale. The device using a grain-oriented electrical steel core (16mm long with a 1.4mm² cross-section) with the rolling direction (RD) along the stress direction exhibited the effective open-circuit voltage of 0.89V under an optimum bias magnetic field, when the free-end of the device was vibrated with a maximum amplitude of 2.0mm at a mechanical resonance frequency of 108 Hz. In addition, an average output power of 300µW was obtained by adjusting the load resistance. The above-mentioned properties of the RD unimorph core device were superior to those of the transverse direction (TD) unimorph core device, because the magnetic flux density change in the RD core was approximately 0.65 T, which was larger than that in the TD core. Therefore, grain-oriented electrical steel with the RD direction is a useful core material for developing large-sized devices with high performance. [ABSTRACT FROM AUTHOR]

Background: POU1F1 encodes both PIT-1a, which plays pivotal roles in pituitary development and GH, PRL and TSHB expression, and the alternatively spliced isoform PIT-1β, which contains an insertion of 26-amino acids (β-domain) in the transactivation domain of PIT-1a due to the use of an alternative splice acceptor at the end of the first intron. PIT-1β is expressed at much lower levels than PIT-1a and represses endogenous PIT-1a transcriptional activity. Although POU1F1 mutations lead to combined pituitary hormone deficiency (CPHD), no patients with β-domain mutations have been reported. Results: Here, we report that a three-generation family exhibited differe nt degrees of CPHD, including growth hormone deficiency with intrafamilial variability of prolactin/TSH insufficiency and unexpected prolactinoma occurrence. The CPHD was due to a novel POU1F1 heterozygous variant (c.143-69T>G) in intron 1 of PIT-1a (RefSeq number NM_000306) or as c.152T>G (p.Ile51Ser) in exon 2 of PIT-1β (NM_001122757). Gene splicing experiments showed that this mutation yielded the PIT-1β transcript without other transcripts. The lymphocyte PIT-1β mRNA expression was significantly higher in the patients with the heterozygous mutat ion than a control. A luciferase reporter assay revealed that the PIT-1β-Ile51Ser mutant repressed PIT-1a and abolished transactivation capacity for the rat prolactin p romoter in GH3 pituitary cells. Conclusions: We describe, for the first time, that the PIT-1 β mutation can cause CPHD through a novel genetic mechanism, such as PIT-1β overexpression, and that POU1F1 mutation might be associated with a prolactinoma. Analysis of new patients and long-term follow-up are needed to clarify the characteristics of PIT-1β mutations. [ABSTRACT FROM AUTHOR]

Despite the increasing detection of emerging substances in the environment, the identity of most are left unknown due to the lack of efficient identification methods. We developed a non-target analysis method for identifying unknown substances in the environment by liquid chromatography/high-resolution mass spectrometry (LC/HRMS) with a product ion and neutral loss database (PNDB). The present analysis describes an elucidation method with elemental compositions of the molecules, product ions, and corresponding neutral losses of the unknown substance: (1) with the molecular formula, possible molecular structures are retrieved from two chemical structure databases (PubChem and ChemSpider); then (2) with the elemental compositions of product ions and neutral losses, possible partial structures are retrieved from the PNDB; and finally, (3) molecular structures that match the possible partial structures are listed in order of number of hits. A molecular structure with a higher number of hits is more similar to the structure of the analyzed substance. The performance of the non-target method was evaluated by simulated analysis of 150 LC/HRMS spectra registered in MassBank. First, all substances of the same mass data (41/41) and 68% (39/57) of the mass data of the same substances not registered in the PNDB were elucidated. It was demonstrated that 14% (7/52) and 31% (16/52) of the substances with no mass spectral data registered in the PNDB were obtained at the first and within the fifth place, respectively. Owing to the fact that 10 of the total hits occurred in product ions and neutral losses, almost 50% of the substances evaluated with this method were placed at the top 4 positions in the similarity ranking. Importantly, the proposed method is effective for analyzing mass spectral data that has not been registered in the PNDB and thus is expected to be used for a variety of non-target analyses. [ABSTRACT FROM AUTHOR]

There are no recommended diagnostic criteria for transient congenital hypothyroidism (CH) during early childhood. In this study, we aimed to identify the factors that distinguish permanent (P)- and transient (T)-CH. We retrospectively analyzed the clinical, biochemical, and imaging data of 42 children with a definitive diagnosis of P- or T-CH by re-evaluation tests at our institution from November 1986 to October 2019. Patients who continued levothyroxine (L-T4) treatment after the re-evaluation tests were classified as group P (n = 19), while patients who were diagnosed with T-CH and discontinued L-T4 treatment were classified as group T (n = 23). Initial testing performed during infancy showed that the mean serum TSH and free T4 (FT4) levels did not differ significantly between groups P and T. None of the patients in group T required an increased dosage of L-T4 at the age of 3 yr and above while 85% of the patients in group P required increased dosages of L-T4. Hence, T-CH was suspected in patients who did not require an increase in L-T4 dosage at the age of 3 yr and above. [ABSTRACT FROM AUTHOR]

Purpose: To report an experimental study and clinical case using a coil packing technique that hastens occlusion of an Amplatzer Vascular Plug 1 (AVP1) in short-segment embolization of high-flow target vessels.Technique: An experimental vascular stenosis model was made of 12-mm soft polyvinyl chloride tubing. Under continuous pulsatile flow, a 12-mm AVP1 was deployed in the 4-mm-diameter stenosis. Before detachment of the AVP1, a 2.2-F microcatheter was inserted into the AVP1 through its mesh via a 6-F delivery guiding sheath in parallel with the delivery wire. Hydrogel microcoils were deployed tightly in the AVP1 and the plug was detached. After the procedure, the pulsatile saline flow was nearly obliterated. In the first clinical case, a 64-year-old man with a thoracic aortic stent-graft and single vessel debranching for type B aortic dissection developed a residual type II endoleak via the left subclavian artery. This coil packing technique in an AVP1 was employed to successfully embolize the leak.Conclusion: Based on the experimental study and the first experience in vivo, tight coil packing of an AVP1 might be a robust technique for ultrashort-segment embolization. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Advanced surface analytical methods are outlined, and they are used to obtain new information on the surface phenomena of materials surfaces. For instance, angle-resolved X-ray photoelectron spectros-copy is used for analyzing the surface segregation of chromium and nitrogen on stainless steels and the native oxidation of their surfaces. X-ray absorption spectroscopy using synchrotron radiation is utilized for analyzing the chemical state and local structure of Fe in green rust. [ABSTRACT FROM AUTHOR]

Background: Monodominant bonebeds are a relatively common occurrence for non-avian dinosaurs, and have been used to infer associative, and potentially genuinely social, behavior. Previously known assemblages are characterized as either mixed size-classes (juvenile and adult-sized specimens together) or single size-classes of individuals (only juveniles or only adult-sized individuals within the assemblage). In the latter case, it is generally unknown if these kinds of size-segregated aggregations characterize only a particular size stage or represent aggregations that happened at all size stages. Ceratopsians (“horned dinosaurs”) are known from both types of assemblages. Methods/Principal Findings: Here we describe a new specimen of the ceratopsian dinosaur Protoceratops andrewsi, Granger and Gregory 1923 from Mongolia representing an aggregation of four mid-sized juvenile animals. In conjunction with existing specimens of groups of P. andrewsi that includes size-clustered aggregations of young juveniles and adult-sized specimens, this new material provides evidence for some degree of size-clustered aggregation behaviour in Protoceratops throughout ontogeny. This continuity of size-segregated (and presumably age-clustered) aggregation is previously undocumented in non-avian dinosaurs. Conclusions: The juvenile group fills a key gap in the available information on aggregations in younger ceratopsians. Although we support the general hypothesis that many non-avian dinosaurs were gregarious and even social animals, we caution that evidence for sociality has been overstated and advocate a more conservative interpretation of some data of ‘sociality’ in dinosaurs. [ABSTRACT FROM AUTHOR]

Abstract  New material of the enigmatic diapsid Khurendukhosaurus is described from the Mongolian type locality, Khuren Dukh, providing additional data on the vertebral column, pelvis, and hind limb. It confirms the choristoderan status of the genus and permits a more detailed phylogenetic analysis that supports a relationship between Khurendukhosaurus and the long-necked Asian Hyphalosauridae. The existence of tall caudal neural spines implies that Khurendukhosaurus was a deep-tailed swimmer. This and the open sacral costocentral sutures suggest a primarily aquatic lifestyle. [ABSTRACT FROM AUTHOR]

A pheochromocytoma is a rare tumor derived from the adrenal medulla (or from chromaffin cells of sympathetic ganglia). Its symptoms derive mostly from the excessive release of catecholamines (adrenaline and noradrenaline). Hypertension is the most recognized feature of this disease, but gastrointestinal manifestations can on rare occasions be just as serious and life threatening. This report describes a rare case of a 70-year-old woman with pheochromocytoma who developed an acute abdominal emergency with shock and panperitonitis as a result of perforation of the descending colon which was effectively treated by surgical removal of the tumor and the perforated colon. There have been 2 such cases in the English literature in whom a pheochromocytoma was associated with perforation of the colon. Successful surgical removal of such a pheochromocytoma has been not reported previously. Our case demonstrates the importance of recognizing that a pheochromocytoma presents with a wide spectrum of manifestations, and rapid treatment brings improvement to the patient.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Recent developments in the field of vibration-based power generators have highlighted the advantages of using Fe–Ga alloys; these are excellent-magnetostrictive materials having good mechanical properties, which makes them well suited for use as magnetostrictive elements. A rectangular Fe–Ga element oriented along the 〈100〉 direction in a U-shaped unimorph device produces a higher power generation efficiency than samples with other orientations such as 〈110〉 and 〈111〉. The crystal growth direction of the ingots and plane orientation of the elements have a minimal effect on the power-generation efficiency. The observations of the magnetic domain and elastic properties suggest that the anisotropy in power generation is attributable to the anisotropic magnetic and elastic properties of the Fe–Ga alloy. Thus, a high-performance, vibration-based power generator using the Fe–Ga alloy should be fabricated using elements with a 〈100〉 orientation, cut from a single-crystal Fe–Ga ingot. [ABSTRACT FROM AUTHOR]