Publications by authors named "Nawa Y"

The recent publication entitled "Possible zoonotic implications of the discovery of the advanced third stage larva of (Spirurida: Gnathostomatidae) in a Mexican fish species" by Mosqueda-Cabrera ., appeared in Helminthologia, 2023; 60(1): 112-116. was extremely interesting and informative showing potential zoonotic natue of .

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  • The study aimed to explore the genetic basis and pathogenic variants associated with autism spectrum disorder (ASD) by performing whole-genome sequencing on 57 Japanese ASD patients and their parents.
  • Researchers identified potentially pathogenic variants in about 31.6% of the patients, with a higher rate (43.5%) among those with comorbid intellectual developmental disorder (IDD), highlighting specific genes like PTEN and CHD7 linked to recognized ASD phenotypes.
  • The findings emphasize the importance of understanding the genetic underpinnings of ASD to aid in clinical diagnosis and treatment, though no significant results were found regarding short tandem repeats or polygenic risk scores.
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  • The study investigates the effectiveness of testing cerebrospinal fluid (CSF) for anti-HTLV-1 antibodies in diagnosing HTLV-1-associated myelopathy (HAM), highlighting the diagnostic accuracy of various test kits.
  • It found that while CSF antibody levels were stable when refrigerated, they were affected by freeze-thaw cycles, leading to strong correlations in test results across different methods used on samples from 92 patients (69 with HAM, 23 carriers).
  • The results showed high diagnostic performance for HAM, with five test kits achieving 100% sensitivity and varying specificity, suggesting that these tests combined with clinical evaluation can improve HAM diagnosis.
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  • - The study investigates the link between rare copy number variations (CNVs) in synaptic genes and bipolar disorder (BD) in a Japanese population, using genome hybridization techniques on nearly 2,000 BD patients and 2,760 controls.
  • - Results indicate a strong association between the RNF216 gene and BD, with significant findings also related to postsynaptic membrane components, suggesting these genetic factors contribute to BD risk.
  • - The findings enhance understanding of BD's genetic underpinnings, highlighting the importance of CNVs in gene regions that may influence the disorder's development.
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  • Human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (CMs) are important for drug testing and heart failure treatment, making their quality and maturation essential for large-scale production.
  • The study utilized label-free Raman microscopy to analyze the molecular profiles of hiPSC-CMs, focusing on correlations between features like cytochrome and myoglobin with the cells' purity and maturity.
  • Results demonstrated that Raman spectroscopy can effectively distinguish between mature and immature CMs, indicating it as a valuable tool for assessing cardiac cell development and quality.
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Sparganosis is one of the common zoonotic diseases caused by infection with the larval plerocercoids (spargana) of the cestode genus Spirometra. While this parasite distributes globally in canine and feline hosts, human infection is predominantly reported in East Asia, especially China, Korea, Japan, and Thailand. Maybe related to the behavior and food culture, this zoonotic disease is rather rare in South Asia to the Middle East.

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Echinococcus ortleppi is the genotype G5 of Echinococcus granulosus sensu lato and is a zoonotic canine tapeworm of which larvae causes cystic diseases in domestic animals and also humans. While this species is highly endemic and widely spread in domestic animals, human infection is extremely rare and only sporadic, and thus, entire picture of human cystic echinococcosis due to infection with E. ortleppi is unclear.

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  • * Discontinuing immunosuppressants didn’t help her condition, but treatment with lenalidomide led to the disappearance of lymphoma cells and normalization of sIL2R levels, despite causing some pancytopenia (low blood cell counts).
  • * After treatment with lenalidomide, the woman achieved complete remission and showed no signs of ATL relapse after 13 months, indicating lenalidomide could be an effective treatment for relapsed
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Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) and autism spectrum disorder (ASD). In this study, we investigated the association of genes in the 3q29 region with SCZ and ASD.

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Dipylidium caninum is a cosmopolitan parasite of companion animals such as dogs and cats. Accidental infection in humans occur mostly in children. Although considerable number of cases were reported from Europe and the Americas, case reports of this zoonotic disease are rather scarce from Asian countries.

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Recent genetic studies have found common genomic risk variants among psychiatric disorders, strongly suggesting the overlaps in their molecular and cellular mechanism. Our research group identified the variant in ASTN2 as one of the candidate risk factors across these psychiatric disorders by whole-genome copy number variation analysis. However, the alterations in the human neuronal cells resulting from ASTN2 variants identified in patients remain unknown.

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  • Quick arterial cannulation in pediatric emergencies requires effective local anesthesia to prevent withdrawal movements, which can be challenging to achieve with standard techniques.
  • A study was conducted to compare the effectiveness of a new jet injector, INJEX50, to the traditional 26-gauge needle for administering local anesthesia before arterial cannulation in infants and young children.
  • Results showed that the success rate of local anesthesia was significantly higher with the INJEX50 (86%) compared to the 26-gauge needle (43%), indicating that the jet injector may be more effective for this procedure.
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  • - Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects various body systems, causing symptoms like kidney problems, vision loss, obesity, and intellectual challenges, with no specific treatment available.
  • - A 4-year-old boy with BBS showed unusual symptoms including severe anemia and physical anomalies, and genetic testing confirmed a mutation in the MKKS gene; despite initial iron treatment, intravenous therapy was necessary for improvement.
  • - The case highlights the complexity and rarity of BBS, particularly in Arab populations, underlining the need for comprehensive care and genetic counseling to manage complications and prevent disease transmission in families.
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The surface plasmon resonance (SPR) technique has been widely applied to biosensing technologies for the rapid quantification of biomolecules without enzyme and fluorescent labeling. However, the conventional prism-coupling SPR method generally has a detection area of a few mm2, and the large contribution of the background signal forms a barrier to highly sensitive detection. Based on a highly spatially resolved SPR method, the present study constructed a scanning GC-SPR imaging instrument using an objective lens with a high numerical aperture and a plasmonic chip that could be used for grating-coupled SPR.

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fusion is found in < 1% of de novo acute myeloid leukemia (AML) cases and confers a poor prognosis. This Japanese nationwide survey analyzed patients with AML ( = 22) and mixed phenotype acute leukemia (MPAL) ( = 10) with t(9;22) or who underwent allogeneic hematopoietic cell transplantation (allo-HCT) between 2002 and 2018. The 3-year overall survival (OS) rates were 81.

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Whole genome analysis has identified rare copy number variations (CNV) that are strongly involved in the pathogenesis of psychiatric disorders, and 3q29 deletion has been found to have the largest effect size. The 3q29 deletion mice model (3q29-del mice) has been established as a good pathological model for schizophrenia based on phenotypic analysis; however, circadian rhythm and sleep, which are also closely related to neuropsychiatric disorders, have not been investigated. In this study, our aims were to reevaluate the pathogenesis of 3q29-del by recreating model mice and analyzing their behavior and to identify novel new insights into the temporal activity and temperature fluctuations of the mouse model using a recently developed small implantable accelerometer chip, Nano-tag.

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Objectives: Localized autoimmune pancreatitis is difficult to differentiate from pancreatic ductal adenocarcinoma on endoscopic ultrasound images. In recent years, deep learning methods have improved the diagnosis of diseases. Hence, we developed a special cross-validation framework to search for effective methodologies of deep learning in distinguishing autoimmune pancreatitis from pancreatic ductal adenocarcinoma on endoscopic ultrasound images.

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  • Fludarabine-based conditioning regimens in cord blood transplantation (CBT) have varying effectiveness, with the study analyzing five different combinations in 1395 adult patients suffering from myeloid malignancies.
  • The results showed that the combination of fludarabine and melphalan with high-dose total body irradiation (FM140T) had the highest 3-year survival rate (67%), while other regimens had significantly lower rates, indicating FM140T as the most favorable option.
  • These outcomes suggest that survival rates in CBT for myeloid cancers depend greatly on the type and dosage of alkylating agents used alongside fludarabine, with FM140T being recommended over fludarabine/busulfan
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We conducted a multicenter, prospective observational study of acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and chronic myelomonocytic leukemia (CMML) in Japan. From August 2011 to January 2016, we enrolled 6568 patients. Herein, we report the results for MDS (n = 2747) and CMML (n = 182).

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This report covers acute myeloid leukemia (AML) results from a multicenter, prospective observational study of AML, myelodysplastic syndromes, and chronic myelomonocytic leukemia in Japan. From August 2011 to January 2016, 3728 AML patients were registered. Among them, 42% were younger than 65, and the male-to-female ratio was 1.

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Aim: The present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case-control sample.

Method: Array comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP-CNVs) in PRKN and examined their association with SCZ and ASD.

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  • Allogeneic hematopoietic stem cell transplantation (HCT) is a potential curative treatment for patients with myelodysplastic syndrome with a complex karyotype (CK-MDS), although there are limited studies focusing on this specific group.
  • In a study involving 691 CK-MDS patients, the overall survival (OS) rate after 3 years was found to be 29.8%, with various factors impacting survival rates.
  • Key risk factors linked to reduced OS included older age, male sex, poor comorbidity index, a need for red or platelet blood transfusions, incomplete remission, a high number of karyotype abnormalities, and the presence of a monosomal karyotype.
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The distribution and clinical impact of cell-of-origin (COO) subtypes of diffuse large B-cell lymphoma (DLBCL) outside Western countries remain unknown. Recent literature also suggests that there is an additional COO subtype associated with the germinal center dark zone (DZ) that warrants wider validation to generalize clinical relevance. Here, we assembled a cohort of Japanese patients with untreated DLBCL and determined the refined COO subtypes, which include the DZ signature (DZsig), using the NanoString DLBCL90 assay.

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To promote the clinical application of human induced pluripotent stem cell (hiPSC)-derived hepatocytes, a method capable of monitoring regenerative processes and assessing differentiation efficiency without harming or modifying these cells is important. Raman microscopy provides a powerful tool for this as it enables label-free identification of intracellular biomolecules in live samples. Here, we used label-free Raman microscopy to assess hiPSC differentiation into hepatocyte lineage based on the intracellular chemical content.

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Purpose: The main aim of the current trial was to explore our hypothesis that cooling head wraps lower the core temperature more effectively than ice packs on the head during forced-air warming after pediatric cardiac surgeries.

Methods: This study was a single-center Randomized Controlled Trial. Participants were children with a weight ≤ 10 kg and hyperthermia during forced-air warming after cardiac surgeries.

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