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1.
Front Neurosci ; 18: 1368733, 2024.
Article in English | MEDLINE | ID: mdl-38859924

ABSTRACT

Introduction: This research aims to address the challenges in model construction for the Extended Mind for the Design of the Human Environment. Specifically, we employ the ResNet-50, LSTM, and Object Tracking Algorithms approaches to achieve collaborative construction of high-quality virtual assets, image optimization, and intelligent agents, providing users with a virtual universe experience in the context of visual communication. Methods: Firstly, we utilize ResNet-50 as a convolutional neural network model for generating virtual assets, including objects, characters, and environments. By training and fine-tuning ResNet-50, we can generate virtual elements with high realism and rich diversity. Next, we use LSTM (Long Short-Term Memory) for image processing and analysis of the generated virtual assets. LSTM can capture contextual information in image sequences and extract/improve the details and appearance of the images. By applying LSTM, we further enhance the quality and realism of the generated virtual assets. Finally, we adopt Object Tracking Algorithms to track and analyze the movement and behavior of virtual entities within the virtual environment. Object Tracking Algorithms enable us to accurately track the positions and trajectories of objects, characters, and other elements, allowing for realistic interactions and dynamic responses. Results and discussion: By integrating the technologies of ResNet-50, LSTM, and Object Tracking Algorithms, we can generate realistic virtual assets, optimize image details, track and analyze virtual entities, and train intelligent agents, providing users with a more immersive and interactive visual communication-driven metaverse experience. These innovative solutions have important applications in the Extended Mind for the Design of the Human Environment, enabling the creation of more realistic and interactive virtual worlds.

2.
J Clin Med ; 13(10)2024 May 10.
Article in English | MEDLINE | ID: mdl-38792356

ABSTRACT

This study aimed to evaluate the effects of the COVID-19 pandemic on obesity, metabolic parameters, and clinical values in the South Korean population. Data from the seventh and eighth National Health and Nutrition Examination Surveys were analyzed, comprising 3560 participants in 2018 (pre-COVID-19) and 3309 participants in 2021 (post-COVID-19). The study focused on adults aged 19 years and older who were overweight (BMI ≥ 25 kg/m2). The results showed a significant increase in waist circumference (approximately 2 cm), BMI (approximately 0.11 kg/m2), systolic blood pressure, fasting blood sugar (1.76 mg/dL higher), and glycated hemoglobin (0.14% higher) in the post-COVID-19 group compared to the pre-COVID-19 group. Additionally, the prevalence of hypercholesterolemia increased by 4% after the COVID-19 pandemic. These findings suggest an increased risk of obesity, abdominal obesity, and metabolic disorders, such as blood sugar disorders, in the post-COVID-19 period. Urine analysis revealed abnormal findings, including occult blood, urobilinogen, hematuria, proteinuria, ketone urea, glycosuria, and bacteriuria. The study highlights the negative impact of lifestyle changes, such as reduced physical activity and social gatherings, on physical vital signs and clinical values during the COVID-19 pandemic.

3.
Front Physiol ; 15: 1347756, 2024.
Article in English | MEDLINE | ID: mdl-38706943

ABSTRACT

Periodontitis is known to be affected by high-glucose conditions, which poses a challenge to periodontal tissue regeneration, particularly in bone formation. In this study, the potential effects of resveratrol (3,5,4'-trihydroxystilbene, RSV) in facilitating bone formation under high-glucose conditions after periodontitis has been investigated. We focused on the analysis of osteoblasts and periodontal ligament cells, which are essential for bone formation including cell proliferation and differentiation. And we aimed to investigate the impact of RSV on bone healing, employed diabetic mouse model induced by streptozotocin and confirmed through histological observation. High-glucose conditions adversely affected cell proliferation and ALP activity in both MC3T3-E1 and hPDLF in vitro, with more significant impact on MC3T3-E1 cells. RSV under high-glucose conditions had positive effects on both, showing early-stage effects for MC3T3-E1 cells and later-stage effects for hPDLF cells. RSV seemed to have a more pronounced rescuing role in MC3T3-E1 cells. Increased ALP activity was observed and the expression levels of significant genes, such as Col 1, TGF-ß1, ALP, and OC, in osteogenic differentiation were exhibited stage-specific expression patterns. Upregulated Col 1 and TGF-ß1 were detected in the early stage, and then ALP and OC expressions became more pronounced in the later stages. Similarly, stronger positive reactions against RUNX2 were detected in the RSV-treated group compared to the control. Furthermore, in in vivo experiment, RSV stimulates the growth and differentiation of osteoblasts, thereby promoting bone formation. High-glucose levels have the potential to impair cellular functions and the regenerative capacity to facilitate bone formation with MC3T3-E1 rather than hPDLF cells. Resveratrol appears to facilitate the inherent abilities of MC3T3-E1 cells compared with hPDLF cells, indicating its potential capacity to restore functionality during periodontal regeneration.

4.
BMC Complement Med Ther ; 24(1): 40, 2024 Jan 16.
Article in English | MEDLINE | ID: mdl-38229051

ABSTRACT

BACKGROUND: As chromatographic techniques have advanced, many articles that analyze the constituting compounds of medicinal materials have been published in relation to Northeast Asian traditional medicine, including traditional Chinese medicine (TCM). TM-MC was launched in 2015, providing information about the chemical compounds in medicinal materials from chromatographic articles in PubMed. Since 2015, through continuous curation efforts, we have now released TM-MC 2.0 with significant improvements to the quantity and quality of the data ( https://tm-mc.kr ). DESCRIPTION: TM-MC 2.0 contains 635 medicinal materials, 34,107 chemical compounds (21,306 identified and de-duplicated), 13,992 targets, 27,997 diseases, and 5,075 prescriptions (2,393 de-duplicated by name). The database provides the largest number of identified compounds for medicinal materials listed in the pharmacopoeia compared to all TCM databases. In particular, marker compounds of medicinal materials and many newly discovered compounds were added through the manual curation of recent chromatographic articles. CONCLUSION: TM-MC 2.0 provides the largest collection of information about the chemical compounds of the medicinal materials listed in the Korean, Chinese, and Japanese pharmacopoeias. Our database can be utilized for network pharmacology in traditional medicine and for the compound screening of medicinal materials for modern drug discovery.


Subject(s)
Databases, Chemical , Medicine, Chinese Traditional , Medicine, Traditional , Databases, Factual
5.
J Cell Physiol ; 239(1): 112-123, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38149778

ABSTRACT

Lipid biosynthesis is recently studied its functions in a range of cellular physiology including differentiation and regeneration. However, it still remains to be elucidated in its precise function. To reveal this, we evaluated the roles of lysophosphatidic acid (LPA) signaling in alveolar bone formation using the LPA type 2 receptor (LPAR2) antagonist AMG-35 (Amgen Compound 35) using tooth loss without periodontal disease model which would be caused by trauma and usually requires a dental implant to restore masticatory function. In this study, in vitro cell culture experiments in osteoblasts and periodontal ligament fibroblasts revealed cell type-specific responses, with AMG-35 modulating osteogenic differentiation in osteoblasts in vitro. To confirm the in vivo results, we employed a mouse model of tooth loss without periodontal disease. Five to 10 days after tooth extraction, AMG-35 facilitated bone formation in the tooth root socket as measured by immunohistochemistry for differentiation markers KI67, Osteocalcin, Periostin, RUNX2, transforming growth factor beta 1 (TGF-ß1) and SMAD2/3. The increased expression and the localization of these proteins suggest that AMG-35 elicits osteoblast differentiation through TGF-ß1 and SMAD2/3 signaling. These results indicate that LPAR2/TGF-ß1/SMAD2/3 represents a new signaling pathway in alveolar bone formation and that local application of AMG-35 in traumatic tooth loss can be used to facilitate bone regeneration and healing for further clinical treatment.


Subject(s)
Lysophospholipids , Osteogenesis , Receptors, Lysophospholipid , Tooth Loss , Animals , Mice , Cell Differentiation/physiology , Lysophospholipids/metabolism , Osteoblasts/metabolism , Periodontal Ligament/metabolism , Transforming Growth Factor beta1/metabolism , Receptors, Lysophospholipid/metabolism
6.
Ann Dermatol ; 35(Suppl 2): S243-S246, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38061713

ABSTRACT

Angiofibroma and shagreen patches are common cutaneous manifestations of tuberous sclerosis complex (TSC) and have significant physical and psychological repercussions for patients. Several treatments have been proposed to improve lesions; however, clear treatment guidelines have not yet been presented. Thus, we introduce a case of angiofibroma and shagreen patch improved by application of pulsed dye laser, ablative fractional CO2 laser, and topical rapamycin, and present clinical implications for the treatment of angiofibroma and shagreen patch in TSC.

7.
Nutrients ; 15(21)2023 Oct 27.
Article in English | MEDLINE | ID: mdl-37960209

ABSTRACT

Diabetes affects one in eleven adults globally, with rising cases in the past 30 years. Type 1 and type 2 cause blood sugar problems, increasing cardiovascular risks. Dietary control, including chickpeas, is suggested but needs more research. Comprehensive searches were conducted across multiple databases for the randomized controlled trial efficacy of chickpea consumption to lower blood sugar levels to a healthy range, with data extraction and risk of bias assessment performed independently by two researchers. Statistical analysis was performed using RevMan 5.4, expressing continuous data as mean differences and risk ratios with 95% confidence intervals, and a summary of the findings is provided considering the variations in study characteristics. A total of 118 articles were initially identified from seven databases, primarily from Anglo-American countries, resulting in 12 selected studies after the identification and screening processes. These studies involved 182 participants, focusing on healthy or normoglycemic adults, and assessed the effects of chickpeas compared to various foods such as wheat, potatoes, pasta, sauce, cheese, rice, and corn. A meta-analysis involving a subset of studies demonstrated that chickpeas were more effective in reducing blood glucose iAUC compared to potatoes and wheat. Chickpeas offer the potential for blood sugar control through low starch digestibility, high fiber, protein, and hormonal effects. Although insulin benefits are seen, statistical significance varies, supporting their role in diabetic diets focusing on nutrient-rich foods over processed carbs.


Subject(s)
Cicer , Diabetes Mellitus , Adult , Humans , Blood Glucose/metabolism , Randomized Controlled Trials as Topic , Insulin
8.
J Int Med Res ; 51(10): 3000605231206294, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37910852

ABSTRACT

Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the "molar tooth sign" on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 (AHI1), inositol polyphosphate-5-phosphatase (INPP5E), coiled-coil and c2 domain-containing protein 2A (CC2D2A), and ARL2-like protein 1 (ARL13B), can cause JS. Classic JS is a part of a group of diseases associated with JS, and its manifestations include various neurological signs such as skeletal abnormalities, ocular coloboma, renal disease, and hepatic fibrosis. Here, we present a proband with the molar tooth sign, ataxia, and developmental and psychomotor delays in a Dagestan family from Russia. Molecular genetic testing revealed two novel heterozygous variants, c.2924G>A (p.Arg975His) in exon 28 and c.1241C>G (p.Pro414Arg) in exon 12 of the transmembrane protein 67 (TMEM67) gene. These TMEM67 gene variants significantly affected the development of JS type 6. This case highlights the importance of whole exome sequencing for a proper clinical diagnosis of children with complex motor and psycho-language delays. This case also expands the clinical phenotype and genotype of TMEM67-associated diseases.


Subject(s)
Abnormalities, Multiple , Eye Abnormalities , Kidney Diseases, Cystic , Child , Humans , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Eye Abnormalities/diagnosis , Eye Abnormalities/genetics , Eye Abnormalities/pathology , Cerebellum/diagnostic imaging , Kidney Diseases, Cystic/diagnosis , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/pathology , Retina/diagnostic imaging , Retina/pathology , Phosphoric Monoester Hydrolases/genetics , Mutation/genetics , Membrane Proteins/genetics , GTP-Binding Proteins/genetics
9.
Behav Sci (Basel) ; 13(9)2023 Sep 06.
Article in English | MEDLINE | ID: mdl-37754022

ABSTRACT

Numerous studies have addressed the issue of "self-stigma" among divorced single-parent women. However, there is a scarcity of quantitative data available on this subject. Moreover, while self-esteem is a crucial factor throughout life, it has been extensively studied in the context of "children" from single-parent families, but not from the perspective of parents themselves. To address this gap, the present study aimed to explore the relationship between self-stigma, self-esteem, and mental health in 347 divorced, single-parent women. The online survey recruited participants randomly, with a specific focus on single mothers who were divorced and had more than one child under the age of 18. The analysis involved utilizing SPSS 25.0 (IBM Co., Armonk, NY, USA) and PROCESS Macro Version 4.1 (Model 4) to conduct descriptive statistics, frequency analysis, reliability assessment, correlation analysis, and mediating analysis. The findings revealed that self-esteem played a partial mediating role in the relationship between self-stigma and mental health. In other words, higher levels of self-stigma among divorced, single-parent women were associated with poorer mental health outcomes. Additionally, the study discovered that engaging in more self-stigma was linked to lower self-esteem and increased mental health distress. These results underscore the significance of internal factors, such as self-stigma and self-esteem, and highlight their relevance in formulating policies aimed at supporting divorced single-parent women. Policymakers should take these factors into account to develop effective strategies to aid this specific group.

10.
Skin Res Technol ; 29(8): e13426, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37632182

ABSTRACT

BACKGROUND: Numerous nonsurgical but invasive cosmetic procedures are performed blindly in the dermis or subcutaneous fat layer of the facial skin. OBJECTIVES: To measure the numerical skin thickness of the facial areas where dermatological procedures are performed by applying ultrasound techniques, and to make it possible to estimate the skin thickness by investigating the influence of several individual constitutional factors such as age, sex, and body mass index (BMI), so that these variables can be applied to estimate skin thickness. MATERIALS AND METHODS: Skin thickness was measured at eight different facial points using an ultrasound machine (Affiniti 50; Philips Inc.). Demographic data were gathered using questionnaires. Manual BMI was calculated from the weight and height of each participant, and individual BMI measurements were performed using a body composition analyzer. RESULTS: In terms of whole skin thickness, the thickest point was the mouth corner, and the thinnest point was the lateral forehead. The thickest point in the epidermis was the chin, and the thinnest point was the nasolabial fold. The thickest point in the dermis was the corner of the mouth, and the thinnest was the lateral forehead. Full skin thickness and dermal thickness were mostly lower in females. Skin thickness was not significantly correlated with BMI. CONCLUSION: The skin thickness at different points on the face was variable, and realistic data about skin thickness can be obtained by in vivo ultrasonographic analysis of the skin.


Subject(s)
Forehead , Skin , Female , Humans , Body Mass Index , Skin/diagnostic imaging , Epidermis , Nasolabial Fold
11.
J Nanobiotechnology ; 21(1): 242, 2023 Jul 28.
Article in English | MEDLINE | ID: mdl-37507708

ABSTRACT

BACKGROUND: Central serous chorioretinopathy (CSC) is the fourth most prevalent retinal disease leading to age-related macular degeneration (AMD) and retinal atrophy. However, CSC's pathogenesis and therapeutic target need to be better understood. RESULTS: We investigated exosomal microRNA in the aqueous humor of CSC patients using next-generation sequencing (NGS) to identify potential biomarkers associated with CSC pathogenesis. Bioinformatic evaluations and NGS were performed on exosomal miRNAs obtained from AH samples of 62 eyes (42 CSC and 20 controls). For subgroup analysis, patients were divided into treatment responders (CSC-R, 17 eyes) and non-responders (CSC-NR, 25 eyes). To validate the functions of miRNA in CECs, primary cultured-human choroidal endothelial cells (hCEC) of the donor eyes were utilized for in vitro assays. NGS detected 376 miRNAs. Our results showed that patients with CSC had 12 significantly upregulated and 17 downregulated miRNAs compared to controls. miR-184 was significantly upregulated in CSC-R and CSC-NR patients compared to controls and higher in CSC-NR than CSC-R. In vitro assays using primary cultured-human choroidal endothelial cells (hCEC) demonstrated that miR-184 suppressed the proliferation and migration of hCECs. STC2 was identified as a strong candidate for the posttranscriptional down-regulated target gene of miR-184. CONCLUSION: Our findings suggest that exosomal miR-184 may serve as a biomarker reflecting the angiostatic capacity of CEC in patients with CSC.


Subject(s)
Central Serous Chorioretinopathy , MicroRNAs , Humans , Aqueous Humor , Biomarkers , Central Serous Chorioretinopathy/diagnosis , Central Serous Chorioretinopathy/genetics , Central Serous Chorioretinopathy/drug therapy , Endothelial Cells , Fluorescein Angiography/methods , MicroRNAs/genetics , MicroRNAs/therapeutic use , Prognosis
12.
Healthcare (Basel) ; 11(13)2023 Jun 21.
Article in English | MEDLINE | ID: mdl-37444650

ABSTRACT

This study explored how the core problems (e.g., parenting, economy, and education level) of single-parent women affect their mental health. Although parenting guilt, economic well-being, and level of education are important variables that affect the mental health of single parents, there is no study that examines the interaction effect between them together. Therefore, this study examined the moderating effects of economic well-being and level of education on the relationship between parenting guilt and mental health in 419 single-parent women. In addition, it was verified whether there was a multiple additive modulation effect when they were put in at the same time. As a result, the higher the parenting guilt and the lower the economic well-being, the higher the level of mental health pain, but the level of education had no statistical significance. However, the interaction term between parenting guilt and education level had statistical significance, while the interaction term between parenting guilt and economic well-being did not produce significant results. These findings suggest the importance of education for single-parent women's mental health as well as the need to establish policies that allow them to have sufficient time and room for child rearing.

13.
Eur J Clin Nutr ; 77(8): 803-810, 2023 08.
Article in English | MEDLINE | ID: mdl-37311868

ABSTRACT

BACKGROUND: Lactase persistence-the ability to digest lactose through adulthood-is closely related to evolutionary adaptations and has affected many populations since the beginning of cattle breeding. Nevertheless, the contrast initial phenotype, lactase non-persistence or adult lactase deficiency, is still observed in large numbers of people worldwide. METHODS: We performed a multiethnic genetic study of lactase deficiency on 24,439 people, the largest in Russia to date. The percent of each population group was estimated according to the local ancestry inference results. Additionally, we calculated frequencies of rs4988235 GG genotype in Russian regions using the information of current location and birthplace data from the client's questionnaire. RESULTS: The attained results show that among all studied population groups, the frequency of GG genotype in rs4988235 is higher than the average in the European populations. In particular, the prevalence of lactase deficiency genotype in the East Slavs group was 42.8% (95% CI: 42.1-43.4%). We also investigated the regional prevalence of lactase deficiency based on the current place of residence. CONCLUSIONS: Our study emphasizes the significance of genetic testing for diagnostics, i.e., specifically for lactose intolerance parameter, as well as the scale of the problem of lactase deficiency in Russia which needs to be addressed by the healthcare and food sectors.


Subject(s)
Lactose Intolerance , Humans , Animals , Cattle , Lactose Intolerance/epidemiology , Lactose Intolerance/genetics , Lactase/genetics , Lactose , Genotype , Phenotype , Polymorphism, Single Nucleotide
14.
Nat Commun ; 14(1): 2982, 2023 05 24.
Article in English | MEDLINE | ID: mdl-37221202

ABSTRACT

In age-related neurodegenerative diseases, pathology often develops slowly across the lifespan. As one example, in diseases such as Alzheimer's, vascular decline is believed to onset decades ahead of symptomology. However, challenges inherent in current microscopic methods make longitudinal tracking of such vascular decline difficult. Here, we describe a suite of methods for measuring brain vascular dynamics and anatomy in mice for over seven months in the same field of view. This approach is enabled by advances in optical coherence tomography (OCT) and image processing algorithms including deep learning. These integrated methods enabled us to simultaneously monitor distinct vascular properties spanning morphology, topology, and function of the microvasculature across all scales: large pial vessels, penetrating cortical vessels, and capillaries. We have demonstrated this technical capability in wild-type and 3xTg male mice. The capability will allow comprehensive and longitudinal study of a broad range of progressive vascular diseases, and normal aging, in key model systems.


Subject(s)
Aging , Longevity , Male , Animals , Mice , Longitudinal Studies , Microvessels , Brain
15.
J Cell Physiol ; 238(7): 1520-1529, 2023 07.
Article in English | MEDLINE | ID: mdl-37098720

ABSTRACT

To understand the mechanisms underlying tooth morphogenesis, we examined the developmental roles of important posttranslational modification, O-GlcNAcylation, which regulates protein stability and activity by the addition and removal of a single sugar (O-GlcNAc) to the serine or threonine residue of the intracellular proteins. Tissue and developmental stage-specific immunostaining results against O-GlcNAc and O-GlcNAc transferase (OGT) in developing tooth germs would suggest that O-GlcNAcylation is involved in tooth morphogenesis, particularly in the cap and secretory stage. To evaluate the developmental function of OGT-mediated O-GlcNAcylation, we employed an in vitro tooth germ culture method at E14.5, cap stage before secretory stage, for 1 and 2 days, with or without OSMI-1, a small molecule OGT inhibitor. To examine the mineralization levels and morphological changes, we performed renal capsule transplantation for one and three weeks after 2 days of in vitro culture at E14.5 with OSMI-1 treatment. After OGT inhibition, morphological and molecular alterations were examined using histology, immunohistochemistry, real-time quantitative polymerase chain reaction, in situ hybridization, scanning electron microscopy, and ground sectioning. Overall, inhibition of OGT resulted in altered cellular physiology, including proliferation, apoptosis, and epithelial rearrangements, with significant changes in the expression patterns of ß-catenin, fibroblast growth factor 4 (fgf4), and sonic hedgehog (Shh). Moreover, renal capsule transplantation and immunolocalizations of Amelogenin and Nestin results revealed that OGT-inhibited tooth germs at cap stage exhibited with structural changes in cuspal morphogenesis, amelogenesis, and dentinogenesis of the mineralized tooth. Overall, we suggest that OGT-mediated O-GlcNAcylation regulates cell signaling and physiology in primary enamel knot during tooth development, thus playing an important role in mouse molar morphogenesis.


Subject(s)
N-Acetylglucosaminyltransferases , Tooth , Animals , Mice , Apoptosis/physiology , Hedgehog Proteins/genetics , Hedgehog Proteins/metabolism , N-Acetylglucosaminyltransferases/genetics , N-Acetylglucosaminyltransferases/metabolism , Protein Processing, Post-Translational , Tooth/growth & development , Tooth/metabolism
16.
Histochem Cell Biol ; 159(6): 477-487, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36814002

ABSTRACT

Mechanically activated factors are important in organogenesis, especially in the formation of secretory organs, such as salivary glands. Piezo-type mechanosensitive ion channel component 1 (Piezo1), although previously studied as a physical modulator of the mechanotransduction, was firstly evaluated on its developmental function in this study. The detailed localization and expression pattern of Piezo1 during mouse submandibular gland (SMG) development were analyzed using immunohistochemistry and RT-qPCR, respectively. The specific expression pattern of Piezo1 was examined in acinar-forming epithelial cells at embryonic day 14 (E14) and E16, which are important developmental stages for acinar cell differentiation. To understand the precise function of Piezo1 in SMG development, siRNA against Piezo1 (siPiezo1) was employed as a loss-of-function approach, during in vitro organ cultivation of SMG at E14 for the designated period. Alterations in the histomorphology and expression patterns of related signaling molecules, including Bmp2, Fgf4, Fgf10, Gli1, Gli3, Ptch1, Shh, and Tgfß-3, were examined in acinar-forming cells after 1 and 2 days of cultivation. Particularly, altered localization patterns of differentiation-related signaling molecules including Aquaporin5, E-cadherin, Vimentin, and cytokeratins would suggest that Piezo1 modulates the early differentiation of acinar cells in SMGs by modulating the Shh signaling pathway.


Subject(s)
Mechanotransduction, Cellular , Submandibular Gland , Mice , Animals , Submandibular Gland/metabolism , Salivary Glands , Morphogenesis/physiology , Cell Differentiation , Ion Channels/metabolism
17.
J Med Radiat Sci ; 70(2): 161-170, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36790039

ABSTRACT

INTRODUCTION: Adjuvant radiotherapy is an established component in the management of metastatic cutaneous squamous cell carcinoma (SCC) involving the parotid gland. Radiotherapy technique, dose and volumes are seldom described sufficiently to allow close examination. We report our treatment outcomes and focus on treatment-related factors that affect outcomes in this cohort. METHODS: We performed a retrospective review of patients with metastatic cutaneous SCCs who underwent parotidectomy with or without ipsilateral neck dissection. All patients received adjuvant radiotherapy. Demographics, clinical data and treatment details were collected from an intuitional electronic database. Individual patient-level radiotherapy technique, volumes and doses were reviewed. RESULTS: Between July 2008 and July 2018, 60 patients met our inclusion criteria. Median follow-up duration was 32.7 months. The mean age was 66.4 years. The majority of patients (49 patients) received full neck irradiation. The 2-year and 5-year loco-regional failure-free survival was 87% (95% confidence interval (CI): 0.74-0.93) and 71% (95% CI: 0.52, 0.83), respectively. The 2-year and 5-year overall survival was 76% (95% CI: 0.62, 0.85) and 60% (95% CI: 0.45, 0.72), respectively. There were 15 cases of loco-regional failures, with 6 cases with dermal involvement. Lymphovascular invasion (LVI) was associated with higher loco-regional failure (hazard ratio: 8.43, 95% CI: 1.85-38.39, P = 0.005) and cancer-specific mortality (hazard ratio: 5.40, 95% CI: 1.40-20.87, P = 0.015). Treatment technique, intensity-modulated radiation therapy (IMRT) vs 3D conformal radiotherapy (3D CRT), bolus use, perineural invasion (PNI) and surgical margins were not significantly associated with loco-regional failure. CONCLUSION: We demonstrated high loco-regional control rates with routine use of comprehensive adjuvant radiotherapy. The presence of LVI was identified as a strong predictor for recurrence. Further analysis will help to define optimal radiation dose and techniques.


Subject(s)
Carcinoma, Squamous Cell , Radiotherapy, Conformal , Radiotherapy, Intensity-Modulated , Skin Neoplasms , Humans , Aged , Carcinoma, Squamous Cell/radiotherapy , Skin Neoplasms/radiotherapy , Parotid Gland/pathology , Radiotherapy, Adjuvant , Treatment Outcome , Retrospective Studies
18.
Eur J Clin Nutr ; 77(5): 574-578, 2023 05.
Article in English | MEDLINE | ID: mdl-36690773

ABSTRACT

BACKGROUND: Overweight is the scourge of modern society and a major risk factor for many diseases. For this reason, understanding the genetic component predisposing to high body mass index (BMI) seems to be an important task along with preventive measures aimed at improving eating behavior and increasing physical activity. METHODS: We analyzed genetic data of a European cohort (n = 21,080, 47.25% women, East Slavs ancestry >80%) for 5 frequently found genes in the context of association with obesity: IPX3 (rs3751723), MC4R (rs17782313), TMEM18 (rs6548238), PPARG (rs1801282) and FTO (rs9939609). RESULTS: Our study revealed significant associations of FTO (rs9939609) (ß = 0.37 (kg/m2)/allele, p = <2 × 10-16), MC4R (rs17782313) (ß = 0.28 (kg/m2)/allele, p = 5.79 × 10-9), TMEM18 (rs6548238) (ß = 0.29 (kg/m2)/allele, p = 2.43 × 10-8) with BMI and risk of obesity. CONCLUSIONS: The results confirm the contribution of FTO, M4CR, and TMEM18 genes to the mechanism of body weight regulation and control.


Subject(s)
Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Humans , Female , Male , Body Mass Index , Obesity/genetics , Obesity/epidemiology , Body Weight , Genotype , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics
19.
J Int Med Res ; 50(12): 3000605221139718, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36567457

ABSTRACT

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 (PMP22), myelin protein zero (MPZ), gap junction protein beta1 (GJB1) and mitofusin2 (MFN2). This current case report describes the clinical and genetic characteristics of a 6-year-old male proband. A physical examination revealed muscular hypotonia. He started walking on his own at 18 months. A nerve conduction study with needle electromyography revealed conduction block. A novel MPZ mutation (c.398C > T, p.Pro133Leu) was revealed in the proband. This mutation was also found in the 32-year-old father of the proband. The father had had deformity of the feet and distal muscle weakness since childhood. The novel p.Pro133Leu pathogenic mutation was responsible for early onset but slowly progressive CMT1B. We assume that this site is an intolerant to change region in the MPZ gene. This variant in the MPZ gene is an important contributor to hereditary neuropathy with reduced nerve conduction velocity in the Russian population. This case highlights the importance of whole exome sequencing for a proper clinical diagnosis of CMT associated with a mutation in the MPZ gene.


Subject(s)
Charcot-Marie-Tooth Disease , Male , Humans , Child , Adult , Charcot-Marie-Tooth Disease/diagnosis , Charcot-Marie-Tooth Disease/genetics , Myelin P0 Protein/genetics , Mutation/genetics , Electromyography , Family
20.
J Am Geriatr Soc ; 70(12): 3366-3377, 2022 12.
Article in English | MEDLINE | ID: mdl-36260413

ABSTRACT

The American Geriatrics Society (AGS) has consistently advocated for a healthcare system that meets the needs of older adults, including addressing impacts of ageism in healthcare. The intersection of structural racism and ageism compounds the disadvantage experienced by historically marginalized communities. Structural racism and ageism have long been ingrained in all aspects of US society, including healthcare. This intersection exacerbates disparities in social determinants of health, including poor access to healthcare and poor outcomes. These deeply rooted societal injustices have been brought to the forefront of the collective public consciousness at different points throughout history. The COVID-19 pandemic laid bare and exacerbated existing inequities inflicted on historically marginalized communities. Ageist rhetoric and policies during the COVID-19 pandemic further marginalized older adults. Although the detrimental impact of structural racism on health has been well-documented in the literature, generative research on the intersection of structural racism and ageism is limited. The AGS is working to identify and dismantle the healthcare structures that create and perpetuate these combined injustices and, in so doing, create a more just US healthcare system. This paper is intended to provide an overview of important frameworks and guide future efforts to both identify and eliminate bias within healthcare delivery systems and health professions training with a particular focus on the intersection of structural racism and ageism.


Subject(s)
Ageism , COVID-19 , Racism , United States , Humans , Aged , Pandemics , Systemic Racism , Delivery of Health Care , Healthcare Disparities
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