Background: The appropriate reference value of the urinary protein-to-creatinine ratio (PCR) for proteinuria may change when the urinary pyrogallol red (PR) protein assay method is changed to the benzethonium chloride method (BC). This study aimed to evaluate the difference between BC-based PCR (BC-PCR) and PR-based PCR (PR-PCR) values in children.
Methods: We compared the BC-PCR and PR-PCR values in the same first-morning urine samples without significant proteinuria in school urine screening settings.
Neonatal diabetes mellitus (NDM), defined as diabetes with an onset during the first 6 months of life, is a rare form of monogenic diabetes. The initial publications on this condition began appearing in the second half of the 1990s and quite surprisingly, the search for new NDM genes is still ongoing with great vigor. Between 2018 and early 2024, six brand new NDM-genes have been discovered (CNOT1, FICD, ONECUT1, PDIA6, YIPF5, ZNF808) and three genes known to cause different diseases were identified as NDM-genes (EIF2B1, NARS2, KCNMA1).
View Article and Find Full Text PDFPurpose: Acute stroke often leads to dysphagia. In the oral stage of dysphagia, there is a potential for immediate benefit from using a palatal augmentation prosthesis (PAP). We investigated whether our quickly fabricated, simple, and expedited version of PAP would result in an immediate improvement in swallowing function after an acute stroke.
View Article and Find Full Text PDFAim: To examine the mortality rate and causes of death in childhood-onset type 1 diabetes in Japan.
Methods: For a median 36.7 years, we followed 391 patients under the age of 15 years who developed type 1 diabetes between 1959 and 1996.
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.
View Article and Find Full Text PDFClin Pediatr Endocrinol
October 2023
Although mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to are rare. Here, we report a case of -MODY in a 12-yr-old Japanese female. Hyperglycemia was initially detected during a school urine screening program.
View Article and Find Full Text PDFBiallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants affecting the C-terminal region of NBAS result in SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), variants affecting the Sec 39 domain are associated with infantile liver failure syndrome type 2 (ILFS2) and variants affecting the ß-propeller domain give rise to a combined phenotype. However, there is still unexplained phenotypic diversity across the three subgroups, challenging the current concept of genotype-phenotype correlations in NBAS-associated disease.
View Article and Find Full Text PDFIntroduction: Although the treatment success of long-term growth hormone therapy (GHT) is dependent on maintaining patients' adherence to treatment, marked variations in adherence levels among children with GHT (eg, 7-71% nonadherence) have been reported. Barriers to or promoters of GHT adherence have been discussed and investigated, and digital health technologies, such as electronic GH injection devices, may have the potential to assess adherence to GHT more accurately. Thus, we conducted a multicenter, retrospective cohort study using GH injection log analysis of an electronic GH device, GROWJECTORL, to qualify adherence and explore the factors influencing adherence.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFNeonatal 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.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFObjective: This study aimed to compare the performance of deep learning image reconstruction (DLIR) with that of standard filtered back projection (FBP) and adaptive statistical iterative reconstruction V (ASiR-V) for measurement of the vascular diameter on computed tomography (CT) angiography model.
Methods: We used 6 vascular models of 3 wall thicknesses. We used DLIR, FBP, and ASiR-V for reconstruction, and compared the accuracy and precision of vascular diameter measurement, as well as the image noise, among the 3 reconstruction methods.
Purpose: The purpose of the study is to evaluate the effect of energy level on the modulation transfer functions (MTF) and noise power spectra (NPS) of virtual monochromatic images (VMIs) obtained using four types of computed-tomographic (CT) scanners: Revolution, SOMATOM, IQon, and Aquilion.
Materials And Methods: VMIs were obtained at 70, 60, and 50 kiloelectron volts (keV), and also at the lowest keV available in each scanner. We evaluated the MTF and NPS in the VMIs obtained at each keV.
To evaluate the rib fracture detection performance in computed tomography (CT) images using a software based on a deep convolutional neural network (DCNN) and compare it with the rib fracture diagnostic performance of doctors.We included CT images from 39 patients with thoracic injuries who underwent CT scans. In these images, 256 rib fractures were detected by two radiologists.
View Article and Find Full Text PDFBackground: POU1F1 encodes both PIT-1α, 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-1α 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-1α and represses endogenous PIT-1α transcriptional activity. Although POU1F1 mutations lead to combined pituitary hormone deficiency (CPHD), no patients with β-domain mutations have been reported.
View Article and Find Full Text PDFDespite 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.
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