13,277 results match your criteria: "Graduate School of Medical Science.[Affiliation]"

Negative experiences during adolescence, such as social isolation (SI), bullying, and abuse, increase the risk of psychiatric diseases in adulthood. However, the pathogenesis of psychiatric diseases induced by these factors remain poorly understood. In adolescents, stress affects the intestinal homeostasis in the gut-brain axis.

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Background: We aimed to determine whether elevated preoperative serum inflammatory markers influence surgical site infections (SSIs) and periprosthetic joint infections (PJIs) after primary total hip arthroplasty (THA).

Methods: In this retrospective single-institution study, 1115 patients who underwent primary THA were enrolled. Cases of SSI/PJI were identified.

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Introduction: This study aimed to describe the course of patients with lung cancer from treatment initiation to end-of-life.

Methods: This retrospective cohort study used Claims Data from the National Health Insurance and Advanced Elderly Medical Service System. We analyzed data from patients newly diagnosed with lung cancer between April 2013 and March 2021 who had been hospitalized at our University Hospital in urban area.

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Article Synopsis
  • Heart degenerative diseases are hard to treat because the heart has a poor ability to regenerate lost cells called cardiomyocytes.
  • Direct cellular reprogramming using small molecules offers a safer way to create functional cardiomyocytes without modifying genes, but the current methods are not very efficient and lead to immature cells.
  • This study found that delivering mitochondria from high-energy organs can improve the maturity and functionality of chemically induced cardiomyocyte-like cells (CiCMs), which may enhance their potential use in regenerative medicine.
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Common genetic etiologies of sensorineural hearing loss in Koreans.

Genomics Inform

November 2024

Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.

Hearing loss is the most common sensory disorder. Genetic factors contribute substantially to this condition, although allelic heterogeneity and variable expressivity make a definite molecular diagnosis challenging. To provide a brief overview of the genomic landscape of sensorineural hearing loss in Koreans, this article reviews the genetic etiologies of nonsyndromic hearing loss in Koreans as well as the clinical characteristics, genotype-phenotype correlations, and pathogenesis of hearing loss arising from common variants observed in this population.

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α-Synuclein pathology as a target in neurodegenerative diseases.

Nat Rev Neurol

November 2024

Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

α-Synuclein misfolds into pathological forms that lead to various neurodegenerative diseases known collectively as α-synucleinopathies. In this Review, we provide a comprehensive overview of pivotal advances in α-synuclein research. We examine structural features and physiological functions of α-synuclein and summarize current insights into key post-translational modifications, such as nitration, phosphorylation, ubiquitination, sumoylation and truncation, considering their contributions to neurodegeneration.

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Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.

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Objective: Uric acid (UA) and obesity are significant risk factors for new-onset atrial fibrillation (AF). Based on the pathogenesis mechanisms of new-onset AF involving obesity and UA, it is possible that UA and weight gain may interact with each other. We investigated the impact of UA and weight gain on new-onset AF using a simple measure of weight change over time, 'weight gain of ≥10 kg after age 20'.

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Efficacy and safety of everolimus for patients with focal cortical dysplasia type 2.

Epilepsia Open

November 2024

Pediatric Neurology, Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Epilepsy Research Institute, Seoul, Republic of Korea.

Objective: This study aimed to evaluate the effectiveness and safety of everolimus in treating seizures associated with focal cortical dysplasia type 2 (FCD 2).

Methods: A prospective, crossover, placebo-controlled clinical trial (ClinicalTrials.gov: NCT03198949) enrolled patients aged 4-40 years with pathologically confirmed FCD 2 and a history of ≥3 seizures per month for two out of the 3 months prior to screening.

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A more elaborate genetic clock for clonal species.

Trends Genet

November 2024

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 34141, Republic of Korea; Inocras Inc., San Diego, CA92121, USA. Electronic address:

The genetic clock is a well-established tool used in evolutionary biology for estimating divergence times between species, individuals, or cells based on DNA sequence changes. Yu et al. have revisited the clock to make it applicable to clonal multicellular organisms that expand through asexual reproduction mechanisms, enabling more comprehensive evolutionary tracking.

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The treatment of the underlying cause of liver disease may potentially reverse hepatic fibrosis. However, it remains uncertain whether improvement in fibrosis can be observed in decompensated liver cirrhosis (LC). Here, we present a case of autoimmune hepatitis (AIH)-related LC in which histological improvement of fibrosis was achieved despite the presence of decompensated LC.

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  • Oral exposure to microplastics (MPs) is a significant health issue, potentially causing glucose intolerance and non-alcoholic fatty liver disease (NAFLD), with this study focusing on their effects under normal diets.
  • Mice exposed to high concentrations of polystyrene MPs exhibited increased serum lipid levels and worsened liver function, while not affecting intestinal permeability, but did change gut microbiota and increase inflammation.
  • Findings suggest that even without leaky gut syndrome, high MPs can lead to dyslipidemia and intestinal issues, emphasizing the need for environmental efforts to limit MP exposure.
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  • The study examined the auditory function over time in fifteen individuals with AS who had confirmed genetic variants associated with the disorder.
  • Findings revealed that 80% had blood in their urine and 40% had protein in their urine, with progressive and symmetrical hearing loss peaking at 53 dB HL, indicating a need for personalized auditory rehabilitation based on genetic factors.
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Epigenomic Alterations of the Human Gene in Adrenal Zonation.

Int J Mol Sci

November 2024

Department of Health Promotion and Medicine of Future, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8641, Japan.

Article Synopsis
  • * It finds that certain genes are unmethylated in the zona fasciculata (ZF) but heavily methylated in the zona glomerulosa (ZG) and reticularis (ZR), affecting the expression of CYP11B enzymes.
  • * The results suggest that aldosterone synthesis might occur in the adrenal medulla, and further research is needed to understand its implications.
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Pre-treatment depiction of the cervical arteries is important for better intra-arterial infusion therapy of malignant head and neck tumors. There have not been any studies on the image quality of ultra-high-resolution computed tomography (U-HRCT) for cervical CT angiography (CTA). The aim of this study is to evaluate the advantages of U-HRCT over conventional HRCT for cervical CTA; Methods: Forty-one patients underwent cervical CTA prior to selective intra-arterial infusion chemotherapy for malignant head and neck tumors.

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Lung adenocarcinoma (LUAD) exhibits significant molecular heterogeneity; however, previous studies have not fully explored its classification into distinct molecular subtypes. Here, we identified LUAD-significant chromosomal instability (CIN) phenotype genes ( = 24) using a TCGA-LUAD cohort ( = 592) and evaluated their ability to predict pathologic grade. Unsupervised clustering and principal component analysis revealed that LUAD patients could be classified into CIN phenotype-related subtypes (Group, Group, and Group), each exhibiting distinct transcriptomic patterns.

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Background: Assessing changes in quality of life in patients with hay fever-related allergic conjunctivitis requires validated and clinically meaningful metrics. A minimal clinically important difference (MCID) that can be applied to assess Domain II of the Japanese Allergic Conjunctival Disease Quality of Life Questionnaire (JACQLQ) in a smartphone app setting has yet to be determined.

Objective: This cross-sectional observational study aimed to determine MCIDs for the app-based JACQLQ in assessing hay fever-related allergic conjunctivitis.

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Multidrug resistance (MDR) is a major obstacle to traditional cancer treatment using chemotherapeutic agents like doxorubicin (DOX). MDR affects drug dosage regimens and enables the recurrence and metastasis of cancer. Because DOX causes severe side effects at high dosages, it is important to use an MDR modulator to make cancer cells sensitive to DOX.

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  • * The study focused on examining tamibarotene's pharmacokinetics by analyzing blood sample concentrations from pediatric and young adult patients at various dosage levels.
  • * A population pharmacokinetic model was developed using data from 22 participants, incorporating factors like body surface area and age, and demonstrated strong predictive accuracy through various validation methods.
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A 63-year-old man, previously diagnosed with multiple autoimmune diseases, developed life-threatening bleeding after gastrectomy for stomach cancer. He survived due to treatment with factor XIII (FXIII) concentrates immediately after his FXIII antigen (Ag) level was reported to be < 5% of normal. Detailed examination by the Japanese Collaborative Research Group on autoimmune coagulation factor deficiencies revealed the presence of anti-FXIII-A and anti-FXIII-B subunit autoantibodies on immunoblot analyses, and thus autoimmune FXIII deficiency (AiF13D) was diagnosed based on the Japanese and international diagnostic criteria.

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  • Hypertension is a known risk factor for atrial fibrillation (AF) and strokes, but there is limited research on AF screening in hypertensive patients and its link to blood pressure levels.
  • A study involving over 4,000 hypertensive patients aged 60 and older in Japan measured their electrocardiograms (ECG) and blood pressure (BP) at home for three months.
  • The study found that 5.8% of participants had undiagnosed AF, with no significant differences in AF detection rates based on different baseline BP categories or the use of antihypertensive medication.
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Role of gut microbiota in inflammatory bowel disease pathogenesis.

J Clin Biochem Nutr

November 2024

Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan.

The role of the gut microbiota, especially bacterial flora, in the pathogenesis of inflammatory bowel disease (IBD) is becoming clearer. Advances in gut microbiota analysis and the use of gnotobiotics models have underscored the importance of gut bacteria and their metabolites in the progression of IBD. Fecal microbiota transplantation has shown promise in clinical trials for ulcerative colitis started as Advanced Medical Care B in Japan, raising expectations for its outcomes.

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Background: The efficacy of parent training for neurodevelopmental disorders has been demonstrated in numerous studies. This study conducted a needs assessment of Japanese parents regarding parent training for neurodevelopmental disorders.

Methods: Responses from 806 parents of children with neurodevelopmental disorders, as well as those with suspected but undiagnosed neurodevelopmental disorders, who had not yet received parent training were analyzed.

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An Optimal Transport Medium for SARS-CoV-2 Detection in the Direct Method of Rapid Microfluidic PCR System.

Yonago Acta Med

November 2024

Division of Infectious Diseases, School of Medicine, Faculty of Medicine, Tottori university, Yonago 683-8503, Japan.

Background: Recently developed rapid real-time reverse transcription PCR (RT-PCR) systems adopting microfluidic thermal cycling technology are ideal for point-of-care (POC) testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Because the RNA extraction step before real-time RT-PCR is rate-limiting, a direct RNA extraction method (direct method) that adopts chemical viral lysis and eliminates RNA purification steps is preferable for rapid real-time RT-PCR. In the direct method, selecting the transport medium is essential because it may be introduced into subsequent real-time RT-PCR steps, but might inhibit PCR.

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