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Background: Diabetes mellitus (DM) is a significant public health concern, particularly in the elderly population. Absolute handgrip strength (HGS) serves to quantify muscle strength. It is recommended that the risk of low muscle strength and increased body mass index be concurrently evaluated using relative HGS. There are currently insufficient evidence regarding the relationship between relative HGS and DM in the elderly Korean population. Therefore, the association between relative HGS and the development of DM in Korean elderly was investigated., Methods: Data from the Korean Longitudinal Study of Ageing were used to determine the odds ratio (OR) between relative HGS and DM during the follow-up period from 2006-2020 among Korean men and women aged ≥65 years without DM when they first participated in this survey. Analysis was conducted using the Generalized Estimating Equation method. Trend analysis was performed for DM development based on relative HGS., Results: Among elderly males, higher relative HGS groups had reduced odds of developing DM (Middle tertile: OR 0.87, 95% CI 0.61-1.23, p = 0.419.) (Upper tertile: OR 0.82, 95% CI 0.56-1.18, p = 0.281.) Among elderly females, the reductions were similar. (Middle tertile: OR 0.82, 95% CI 0.66-1.03, p = 0.087.) (Upper tertile: OR 0.79, 95% CI 0.50-1.25, p = 0.306.) However, these differences were not statistically significant. Significant predictors of new-onset DM included age, BMI (overweight/obese), household income, alcohol consumption, hypertension, and chronic liver disease. Trend tests indicated a substantial decrease in the OR as the relative HGS increased for male and total groups (p for trend < 0.05)., Conclusion: Relative HGS did not achieve statistical significance. Our findings indicate that BMI, particularly overweight and obesity, significantly predicts new-onset DM. However, trend tests indicated a substantial decrease in the OR as the relative HGS increased for male and total groups (p for trend < 0.05), even after adjusting for BMI categories. Despite the lack of statistical significance in some cases, the trend suggests that promoting resistance exercises to enhance HGS could be beneficial in DM prevention. Comprehensive DM prevention strategies should include managing obesity and chronic conditions for elderly., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Sohn et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease-gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype-phenotype relationships in the MAP4K4-related disorder. This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM&#95;001242559:c.569G>T, p.Gly190Val), revealed by trio exome sequencing, and located in the hotspot of the protein kinase domain. The patient exhibited various clinical features, including craniofacial dysmorphism, language delay, congenital heart defects, genitourinary anomalies, and sagittal craniosynostosis. Our study expands the phenotypic association of the MAP4K4-related disorder to include syndromic craniosynostosis, thereby providing further insights into the role of the RAS/MAPK pathways in the development of premature fusion of calvarial sutures., (© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Purpose: The Korean Society of Pediatric Neuro-Oncology (KSPNO) conducted treatment strategies for children with medulloblastoma (MB) by using alkylating agents for maintenance chemotherapy or tandem high-dose chemotherapy (HDC) with autologous stem cell rescue (ASCR) according to the risk stratification. The purpose of the study was to assess treatment outcomes and complications based on risk-adapted treatment and HDC., Materials and Methods: Fifty-nine patients diagnosed with MB were enrolled in this study. Patients in the standard-risk (SR) group received radiotherapy (RT) after surgery and chemotherapy using the KSPNO M051 regimen. Patients in the high-risk (HR) group received two and four chemotherapy cycles according to the KSPNO S081 protocol before and after reduced RT for age following surgery and two cycles of tandem HDC with ASCR consolidation treatment., Results: In the SR group, 24 patients showed 5-year event-free survival (EFS) and overall survival (OS) estimates of 86.7% (95% confidence interval [CI], 73.6 to 100) and 95.8% (95% CI, 88.2 to 100), respectively. In the HR group, more infectious complications and mortality occurred during the second HDC than during the first. In the HR group, the 5-year EFS and OS estimates were 65.5% (95% CI, 51.4 to 83.4) and 72.3% (95% CI, 58.4 to 89.6), respectively., Conclusion: High intensity of alkylating agents for SR resulted in similar outcomes but with a high incidence of hematologic toxicity. Tandem HDC with ASCR for HR induced favorable EFS and OS estimates compared to those reported previously. However, infectious complications and treatment-related mortalities suggest that a reduced chemotherapy dose is necessary, especially for the second HDC.

Background: Moyamoya disease (MMD) is a rare and complex pathological condition characterized by an abnormal collateral circulation network in the basal brain. The diagnosis of MMD and its progression is unpredictable and influenced by many factors. MMD can affect the blood vessels supplying the eyes, resulting in a range of ocular symptoms. In this study, we developed a deep learning model using real-world data to assist a diagnosis and determine the stage of the disease using retinal photographs., Methods: This retrospective observational study conducted from August 2006 to March 2022 included 498 retinal photographs from 78 patients with MMD and 3835 photographs from 1649 healthy participants. Photographs were preprocessed, and an ResNeXt50 model was developed. Model performance was measured using receiver operating curves and their area under the receiver operating characteristic curve, accuracy, sensitivity, and F1-score. Heatmaps and progressive erasing plus progressive restoration were performed to validate the faithfulness., Results: Overall, 322 retinal photographs from 67 patients with MMD and 3752 retinal photographs from 1616 healthy participants were used to develop a screening and stage prediction model for MMD. The average age of the patients with MMD was 44.1 years, and the average follow-up time was 115 months. Stage 3 photographs were the most prevalent, followed by stages 4, 5, 2, 1, and 6 and healthy. The MMD screening model had an average area under the receiver operating characteristic curve of 94.6%, with 89.8% sensitivity and 90.4% specificity at the best cutoff point. MMD stage prediction models had an area under the receiver operating characteristic curve of 78% or higher, with stage 3 performing the best at 93.6%. Heatmap identified the vascular region of the fundus as important for prediction, and progressive erasing plus progressive restoration result shows an area under the receiver operating characteristic curve of 70% only with 50% of the important regions., Conclusions: This study demonstrated that retinal photographs could be used as potential biomarkers for screening and staging of MMD and the disease stage could be classified by a deep learning algorithm., Competing Interests: Disclosures None.

The three-dimensional (3D) printing itself is not a novel technology, it is more than 30 years old. Stereolithographic (SLA) technology has been used as the first and popular technology for medical application of 3D printing. Since 1991 Radiology and Plastic Surgery have published articles about SLA for rapid prototyping anatomical 3D models. Medical applications of 3D printing have been popularizing and stabilizing so far. Implantable medical devices such as metal or absorbable implants, surgical guide systems, prosthesis and orthosis, and 3D anatomical models for normal or diseased anatomy have been developing and expanding its markets so far. There are many obstacles, such as insurance, authorization as a medical device, and lack of standards technology for further expansion of medical applications. Many technical specifications and guidelines for authorization as medical device have been published by regulatory bodies from many countries. Even though international standards for 3D printing have been developing more and more, there have been few standards for medical application of 3D printing. In this harsh environment academia, company, research institute, regulatory bodies, and government have been doing good job for the development of 3D printing industry., Competing Interests: The author has no potential conflicts of interest to disclose., (Copyright © 2023 The Korean Brain Tumor Society, The Korean Society for Neuro-Oncology, and The Korean Society for Pediatric Neuro-Oncology.)

Post-hemorrhagic hydrocephalus (PHH) in preterm infant is common, life-threatening and the main cause of bad developmental outcomes. Ventriculoperitoneal (VP) shunt is used as the ultimate treatment for PHH. Low birth weight and low gestational age are the combination of worse prognostic factors while the single most important prognostic factor of VP shunting is age. Aggressive and early intervention have better effect in intraventricular hemorrhage and intracranial pressures control. It reduces infection rate and brain damage resulted in delayed shunt insertion. It is extremely important to let PHH infants get older and gain weight to have internal organs to be matured before undergoing VP shunt. As premature infants undergo shunt after further growth, shunt-related complications would be reduced. So temporary surgical intervention is critical for PHH infants to have them enough time until permanently shunted.

Background: Periodontitis is initiated or accelerated by dysbiosis of oral microorganisms. When hypertension is accompanied in periodontitis patients, changes of oral microbiota occur. Since there are no reports on antihypertensives, we assessed their effect on the oral microbial profiles of patients with periodontitis., Methods: This study involved 95 participants divided into two groups: those with periodontitis and hypertension (P&#95;HT), and those with periodontitis and taking medications for hypertension (P&#95;mHT). Plaque samples were collected from the buccal, supragingival, and subgingival sites of the oral cavities of these patients. DNA was extracted, and the V3-V4 region of the 16S ribosomal RNA was sequenced and analyzed., Results: The P&#95;HT and P&#95;mHT groups were similar with respect to the alpha- and beta-diversity as well as the dominant phyla and genera, but differed in the relative abundance of bacterial species (85 species). In the P&#95;mHT group, the relative abundance of major periodontal pathogens was greatly increased. In particular, Tannerella forsythia, Treponema denticola, and Fretibacterium fastidiosum increased nearly three times in the linear discriminant analysis score in the supragingival plaque. Also, there was an increase in the relative abundance of Prevotella spp., associated with periodontitis and nitrate reduction, which was also evident in the supragingival plaque., Conclusions: These findings indicate that antihypertensives induce dysbiotic changes in the oral microbiota of patients with periodontitis, which are associated with increases in the relative abundance of periodontal pathogens. Therefore, more active periodontal treatment and supportive periodontal therapy are required in patients taking antihypertensives., (© 2022 American Academy of Periodontology.)

Purpose: This study aimed to analyze the effect of foramen magnum decompression with C1 laminectomy (C1L) for Chiari malformation type 1 (CM-1) in terms of improving clinical symptoms, expanding posterior fossa volume, and decreasing syrinx volume., Materials and Methods: Between January 2007 and June 2019, 107 patients with CM-1 were included. The median patient age was 13±13 years (range: 9 months-60 years), female-to-male ratio was 1:1, and average length of tonsil herniation was 13±5 mm (range: 5-24 mm). Surgical techniques were divided into four groups based on duraplasty or C1L usage. Among the study subjects, 38 patients underwent duraplasty and had their syrinx volumes measured separately on serial magnetic resonance imaging. A three-dimensional visualization software was used to evaluate the syrinx-volume decrease rate., Results: Bony decompression exhibited a mere 20% volume expansion of the lower-half posterior fossa. C1L offered a 3% additional volume expansion, which rose to 5% when duraplasty was added ( p =0.029). There were no significant differences in complication rate when C1L was combined with duraplasty ( p =0.526). Syrinx volumes were analyzed in 38 patients who had undergone duraplasty. Among them, 28 patients who had undergone duraplasty without C1L demonstrated a 5.9% monthly decrease in syrinx volume, which was 7.5% in the remaining 10 patients with C1L ( p =0.040)., Conclusion: C1L was effective in increasing posterior fossa volume expansion, both with and without duraplasty. A more rapid decrease in syrinx volume occurred when C1L was combined with duraplasty., Competing Interests: The authors have no potential conflicts of interest to disclose., (© Copyright: Yonsei University College of Medicine 2023.)

Purpose: To identify the risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease based on Antonovsky's salutogenesis theory., Methods: This study used a qualitative descriptive design. We interviewed adolescents diagnosed with Moyamoya disease and their parents and experts with experience in treating them from 4 July 2019 to 10 October 2019. Data analysis was performed according to the process of deductive content analysis based on Antonovsky's salutogenesis theory., Results: This study identified risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease. Risk factors were closely related to problems with friends, parent relationships and academic work. Protective factors were identified as emotional support through interpersonal relationships, positive attitudes to the disease situation, ability to understand and predict patterns of symptoms, increasing strength to resolve the state of tension and developing available resources., Conclusion: The factors affecting a salutogenic sense of health in adolescents were identified reflecting on the characteristics of the developmental stage of adolescents and the symptoms and situations that are unique to adolescents. It is important for adolescents with Moyamoya disease to recognize available resources and use them appropriately to successfully manage the state of tension caused by stress., (© 2022 John Wiley & Sons Australia, Ltd.)

The 3D modeling of orbital bones in facial CT images is essential to provide a customized implant for reconstructions of orbit and related structures during surgery. However, 3D models of the orbital bone show an aliasing effect and disconnected thin bone in the inter-slice direction because the slice thickness is two to three times larger than the pixel spacing. To improve the inter-slice resolution of facial CT images, we propose a method based on a 2D convolutional neural network (CNN) that uses the spatial information on the sagittal and axial planes and the orbital bone edge-aware (OBE) loss. First, intermediate slices are generated on the sagittal plane. Second, the generated intermediate slices are transformed to an axial image, which is then compared with the original axial image. To generate intermediate slices with an accurate orbital bone structure, the OBE loss considering the orbital bone structure on the sagittal and axial planes is used. To improve the perceptual quality of the generated intermediate slices, the feature map difference loss is additionally used on the axial plane. In the experiment, the proposed method showed the best performance among bilinear and bicubic interpolations, 3D SRGAN, and a 2D CNN-based method. Experimental results confirmed that the proposed method can generate intermediate slices with clear edges of thin bones as well as cortical bones on both the sagittal and the axial plane., (© 2022. The Author(s) under exclusive licence to Society for Imaging Informatics in Medicine.)

Purpose: Multiple burr hole surgery is considered to be an option for achieving indirect revascularization in patients with ischemic Moyamoya disease (MMD). We aimed to investigate the efficacy of stand-alone multiple burr hole surgery for salvage revascularization in patients with MMD by assessing the hemodynamic changes via normalized time-to-peak (nTTP) analysis and independent component analysis (ICA) of preoperative and postoperative dynamic susceptibility contrast (DSC) perfusion MRI data., Methods: The DSC perfusion MRI data of 25 hemispheres from 21 patients with MMD, who underwent multiple burr hole surgery for salvage revascularization due to persistent or recurrent symptoms after primary revascularization with modified encephaloduroarteriosynangiosis (mEDAS), were analyzed. The nTTP, which was measured using the region of interests covering the entire surgical hemisphere, was compared between the preoperative and postoperative images. ICA was used to compare the relative arterial and venous components of the surgical hemispheres between the respective preoperative and postoperative images., Results: The median postoperative nTTP (1.80 s) was significantly shorter than the median preoperative nTTP (4.10 s) (P < 0.001). The postoperative relative arterial component of the surgical hemisphere (median: 0.04) was significantly higher than the preoperative relative arterial component (median: - 0.02, P < 0.001). In contrast, the postoperative relative venous component of the surgical hemisphere (median: - 0.05) was significantly lower than the preoperative value (median: 0.05, P < 0.001)., Conclusion: The improvement in cerebral perfusion parameters observed on postoperative DSC perfusion MRI demonstrated that stand-alone multiple burr hole surgery could be a favorable salvage revascularization technique after mEDAS failure in patients with ischemic MMD., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Heterogeneity in the etiopathology of autism spectrum disorders (ASD) limits the development of generic remedies, requires individualistic and patient-specific research. Recent progress in human-induced pluripotent stem cell (iPSC) technology provides a novel platform for modeling ASDs for studying complex neuronal phenotypes. In this study, we generated telencephalic induced neuronal (iN) cells from iPSCs derived from an ASD patient with a heterozygous point mutation in the DSCAM gene. The mRNA of DSCAM and the density of DSCAM in dendrites were significantly decreased in ASD compared to control iN cells. RNA sequencing analysis revealed that several synaptic function-related genes including NMDA receptor subunits were downregulated in ASD iN cells. Moreover, NMDA receptor (R)-mediated currents were significantly reduced in ASD compared to control iN cells. Normal NMDA-R-mediated current levels were rescued by expressing wild-type DSCAM in ASD iN cells, and reduced currents were observed by truncated DSCAM expression in control iN cells. shRNA-mediated DSCAM knockdown in control iN cells resulted in the downregulation of an NMDA-R subunit, which was rescued by the overexpression of shRNA-resistant DSCAM. Furthermore, DSCAM was co-localized with NMDA-R components in the dendritic spines of iN cells whereas their co-localizations were significantly reduced in ASD iN cells. Levels of phospho-ERK1/2 were significantly lower in ASD iN cells, suggesting a potential mechanism. A neural stem cell-specific Dscam heterozygous knockout mouse model, showing deficits in social interaction and social memory with reduced NMDA-R currents. These data suggest that DSCAM mutation causes pathological symptoms of ASD by dysregulating NMDA-R function., (© 2021. The Author(s).)