Publications by authors named "Narumi S"

Wrist movements play a crucial role in upper-limb motor tasks. As prosthetic and robotic hand technologies have evolved, increasing attention has been focused on replicating the anatomy and functionality of the wrist. Closely imitating the biomechanics and movement mechanisms of human limbs is expected to enhance the overall performance of bionic robotic hands.

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Introduction: Atrophic autoimmune thyroiditis (AAT) is a form of autoimmune hypothyroidism characterized by the absence of a goiter. Thyroid stimulation blocking antibody (TSBAb) has been detected in a subset of pediatric AAT cases. Although the disappearance of TSBAb has been linked to the recovery of thyroid function in adult AAT cases, similar outcomes have not been documented in pediatric cases.

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Background: Our hospital is a designated emergency hospital and accepts many patients with out-of-hospital cardiac arrest (OHCA). Previously, after receiving a direct call from emergency services to request acceptance of an OHCA patient, the emergency room (ER) chief nurse notified medical staff. However, this method delayed ER preparations, so a Code Blue system (CB) was introduced in which the pending arrival of an OHCA patient was broadcast throughout the hospital.

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Background: This study investigated the utility of thromboelastometry (ROTEM) in assessing hypofibrinolysis among septic patients, specifically the association of hypofibrinolysis, as determined by ROTEM, with septic disseminated intravascular coagulation (DIC), organ dysfunction, and clinical outcomes.

Methods: This single-center, retrospective analysis included adult septic patients admitted to Saga University Hospital from 2013 to 2017, with available ROTEM data. Hypofibrinolysis was assessed using the lysis index at 60 min (LI60) in extrinsic thromboelastometry (EXTEM).

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Aim: To quantify the impact of the COVID-19 pandemic on paediatric care use compared to adult care and identify affected subdomains.

Methods: Data from the National Database of Health Insurance Claims and Specific Health Checkups of Japan (NDB) for six fiscal years (FY2016-2021) were analysed. Pre-pandemic (FY2016-FY2019) and pandemic years (FY2020, FY2021) were compared to delineate changes in medical services for paediatric and adult patients.

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Article Synopsis
  • The study investigates the prevalence and clinical characteristics of monogenic disorders in Japanese patients with 46,XY differences of sex development (DSD).
  • Out of 185 patients, 26% were found to have pathogenic variants in specific genes associated with DSD, with notable differences in proportions based on genital formation.
  • The findings suggest that monogenic disorders are more common in patients exhibiting female-typical genitalia and those with Müllerian derivatives.
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De novo donor-specific antibodies (dnDSA), particularly those against human leukocyte antigen (HLA) class II, can cause kidney allograft rejection, resulting in poor prognosis. Recently, HLA matching at both B-cell and T-cell epitopes, assessed by eplet mismatches and predicted indirectly recognizable HLA epitopes (PIRCHE) score, respectively, has been reported to be associated with dnDSA production. It remains unclear how these epitopes are involved in transplant immunology and how the results of the analysis can be applied in clinical practice.

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The principal goal of this study was to assess factors associated with deep vein thrombosis (DVT) in the aftermath of earthquakes in Japan. We searched PubMed, Google Scholar, Web of Science, and Cochrane Library for articles published in English or Japanese regarding indicators for DVT associated with Japanese earthquakes. We calculated pooled odds ratios (OR) or mean differences (MD) with 95% confidence intervals (CIs) for patients with DVT (the DVT group) as compared with the non-DVT group for potential predictors.

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Deciphering the mystery of CHNG3.

Ann Pediatr Endocrinol Metab

October 2024

Congenital hypothyroidism (CH), characterized by insufficient thyroid hormone production due to abnormalities in the hypothalamic-pituitary-thyroid axis, is the most common congenital endocrine disorder. We previously conducted comprehensive genetic screening of 102 patients with permanent CH born in Kanagawa Prefecture, Japan and identified mutations in several genes in 19 CH patients, including defects in genes encoding dual oxidase 2, thyroglobulin, thyrotropin receptor, thyroid peroxidase, and paired-box 8. Despite these findings, approximately 80% of cases remain unexplained.

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  • In pancreatic transplantation, a new technique addresses challenges of a distended graft duodenum caused by pancreatic juice production after blood flow is restored.
  • The method involves leaving the anal side of the graft duodenum uncut initially to allow drainage, which helps in managing bleeding and ensures better conditions for anastomosis to the recipient's small intestine.
  • By using this drainage technique, surgeons can focus on critical tasks like hemostasis and avoid complications associated with inadequate blood flow to the graft.
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  • - The study focuses on genetic variants of the STAR protein that lead to lipoid congenital adrenal hyperplasia, a condition marked by disrupted steroid production in adrenal glands and gonads.
  • - Researchers created genetically modified Y1 mouse tumor cells, which showed a slight ability to produce pregnenolone, and displayed changes similar to those found in patients with the condition when stimulated for two weeks.
  • - The modified cells can assess the functionality of both mouse and human STAR proteins, providing a new way to study genetic variants linked to steroidogenesis issues.
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Context: Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic variants (PVs) in MECP2 have been reported to be associated with CPP.

Objective: We aimed to clarify the contribution of (epi)genetic abnormalities to CPP and clinical and hormonal features in each etiology.

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  • Wnt/β-catenin signaling is crucial for developing adrenal glands, and the protein ZNRF3 regulates this pathway by interacting with R-spondin.
  • A deletion in exon 2 of ZNRF3, linked to congenital adrenal hypoplasia in humans, impairs this interaction and affects β-catenin expression.
  • Mice with a similar ZNRF3 deletion exhibit adrenocortical development changes but do not develop congenital adrenal hypoplasia, showing a variation in how this genetic alteration impacts different species.
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Background: The annual administration of the influenza vaccine is the most effective method for preventing influenza. We have evaluated the effectiveness of the inactivated influenza vaccine in children aged 6 months to 15 years across the seasons from 2013/2014 to 2022/2023. This study aims to investigate the effectiveness of the inactivated influenza vaccine in the 2023/2024 season, the first year following the easing of strict COVID-19 measures, and possibly the last season when only the inactivated vaccine is available on the market.

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Digital clubbing is characterized by bulbous enlargement of the terminal segments of the fingers. Hypotheses including hypoxia have been proposed for the pathogenesis of digital clubbing, but the exact pathogenesis of digital clubbing is still uncertain. Lysinuric protein intolerance (LPI) is caused by pathogenic variants in SLC7A7 and is often associated with interstitial lung disease.

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  • Aim: The study aimed to explore the characteristics of patients who overdose on over-the-counter (OTC) drugs in emergency departments across Japan.
  • Methods: Researchers surveyed 124 patients at eight emergency sites, dividing them into "habitual" and "nonhabitual" overdose groups, and analyzed various sociodemographic factors using statistical tests.
  • Results: Most patients were women (79%), with habitual overdoses being more common in younger individuals. The habitual group primarily accessed drugs from stores, while the nonhabitual group tended to use household medicines; the latter often overdosed due to suicide or self-harm motives.
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is one of the major causative genes of congenital hypothyroidism (CH). Still, the mutation spectrum and clinical outcomes of biallelic variants are not fully understood. This study aimed to elucidate the molecular features and long-term clinical manifestations of CH caused by multiple pathogenic variants.

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Tertiary hyperparathyroidism (THPT) is characterized by elevated parathyroid hormone and serum calcium levels after kidney transplantation (KTx). To ascertain whether pre-transplant calcimimetic use and dose information would improve THPT prediction accuracy, this retrospective cohort study evaluated patients who underwent KTx between 2010 and 2022. The primary outcome was the development of clinically relevant THPT.

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Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.

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Introduction: Kidney transplantation (KT) involving elderly living kidney donors (LKDs) is becoming more frequent because of a profound organ shortage. The efficacy of KT involving grafts obtained from LKDs aged 70 years or older has been reported. However, the safety of donor nephrectomy in LKDs aged 70 years or older, including that associated with changes in the estimated glomerular filtration rate (eGFR), has not been investigated.

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Introduction: NK2 homeobox 1 (NKX2-1) encodes a transcription factor, NKX2-1, that is expressed in the thyroid gland, lung, and brain. Dual oxidase 2 (DUOX2) encodes an enzyme which generates hydrogen peroxide and is involved in the thyroid hormone synthesis. Cases of congenital hypothyroidism (CH) with dyshormonogenesis showing two or more genetic variants are increasingly reported.

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