Publications by authors named "Iwaki H"
Background/aims: Radial incision and cutting (RIC) is an alternative dilation method for stenosis of the lower gastrointestinal tract. However, its safety and efficacy for the small intestine requiring balloon-assisted enteroscopy (BAE) remain limited. Therefore, this pilot study aimed to evaluate the safety and efficacy of RIC using BAE.
View Article and Find Full Text PDFBackground: Alzheimer's disease and related dementias (ADRD) and Parkinson's disease (PD) are the most common neurodegenerative conditions. These central nervous system disorders impact both the structure and function of the brain and may lead to imaging changes that precede symptoms. Patients with ADRD or PD have long asymptomatic phases that exhibit significant heterogeneity.
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- GenoTools is a Python package designed to simplify population genetics research by integrating key functions like ancestry estimation, quality control, and genome-wide association studies into streamlined pipelines.
- It allows users to track samples and variants across customizable processes, making it easier to handle genetics data for studies of any size.
- The tool is utilized in major initiatives like the NIH's Alzheimer's program and has successfully processed vast datasets, contributing to new discoveries and ensuring reliable ancestry predictions and robust quality control in genetic studies.
Ocular Shape of Cataract with Retinitis Pigmentosa: A Case-Control Study.
J Cataract Refract Surg
November 2024
Article Synopsis
- The study aimed to analyze the differences in eye structure between patients with cataracts and Retinitis Pigmentosa (RP) compared to those with cataracts alone.
- Researchers conducted a matched case-control study involving 28 patients in each group, focusing on various ocular measurements like lens thickness and anterior chamber depth.
- Results indicated that cataracts in patients with RP were associated with changes such as a thicker lens and shallower anterior chamber, suggesting that RP may affect lens and eye morphology due to weakened support structures.
Article Synopsis
- - The paper explores using Large Language Models (LLMs) to streamline data wrangling and automate tasks in data discovery and harmonization, crucial for making biomedical data AI-ready by developing Common Data Elements (CDEs).
- - A human-in-the-loop approach was utilized to ensure the accuracy of generated CDEs from various studies and databases, achieving a high accuracy rate where 94.0% of fields required no manual changes, with an interoperability mapping rate of 32.4%.
- - The resulting CDEs are designed to improve dataset compatibility by measuring how well different data sources align with these standards, ultimately enhancing the efficiency and scalability of biomedical research efforts.
Unlabelled: Fujii D, Morisawa T, Yamamoto S, Matsuo T, Nyuba K, Maehata M, Iwaki H, Iwata K, Saitoh M, Endo M, Takahashi T. Examination of factors related to the performance index of patients with cardiovascular disease in a convalescent rehabilitation hospital. Jpn J Compr Rehabil Sci 2024; 15: 63-70.
View Article and Find Full Text PDFPathogenic variants in the gene represent the most common cause of autosomal dominant Parkinson's disease (PD) worldwide. We identified the p.L1795F variant in 14 White/European ancestry PD patients, including two families with multiple affected carriers and seven additional affected individuals with familial PD using genotyping and sequencing data from more than 50,000 individuals through GP2, AMP-PD, PDGENEration, and CENTOGENE.
View Article and Find Full Text PDFvariants and decreased glucocerebrosidase (GCase) activity are implicated in Parkinson's disease (PD). We investigated the hypothesis that increased levels of glucosylceramide (GlcCer), one of GCase main substrates, are involved in PD pathogenesis. Using multiple genetic methods, we show that not , is the main regulator of plasma GlcCer levels, yet it is not involved in PD pathogenesis.
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- Multiple studies have identified genetic factors linked to Alzheimer's and Parkinson's diseases, mostly in European populations, but evidence shows genetic variations exist across different ancestries.
- There are concerns that treatments developed based on European genetics may not be effective for Latino, Black/African American, and East Asian populations due to differing disease mechanisms.
- This study investigates the Population Attributable Risk (PAR) for Alzheimer's and Parkinson's by analyzing genetic data from various ancestries to promote inclusive and effective treatment strategies for neurodegenerative diseases.
Alzheimer's disease (AD) and Parkinson's disease (PD) are influenced by genetic and environmental factors. Using data from UK Biobank, SAIL Biobank, and FinnGen, we conducted an unbiased, population-scale study to: 1) Investigate how 155 endocrine, nutritional, metabolic, and digestive system disorders are associated with AD and PD risk prior to their diagnosis, considering known genetic influences; 2) Assess plasma biomarkers' specificity for AD or PD in individuals with these conditions; 3) Develop a multi-modal classification model integrating genetics, proteomics, and clinical data relevant to conditions affecting the gut-brain axis. Our findings show that certain disorders elevate AD and PD risk before AD and PD diagnosis including: insulin and non-insulin dependent diabetes mellitus, noninfective gastro-enteritis and colitis, functional intestinal disorders, and bacterial intestinal infections, among others.
View Article and Find Full Text PDFBackground: Commercial genome-wide genotyping arrays have historically neglected coverage of genetic variation across populations.
Objective: We aimed to create a multi-ancestry genome-wide array that would include a wide range of neuro-specific genetic content to facilitate genetic research in neurological disorders across multiple ancestral groups, fostering diversity and inclusivity in research studies.
Methods: We developed the Illumina NeuroBooster Array (NBA), a custom high-throughput and cost-effective platform on a backbone of 1,914,934 variants from the Infinium Global Diversity Array and added custom content comprising 95,273 variants associated with more than 70 neurological conditions or traits, and we further tested its performance on more than 2000 patient samples.
Article Synopsis
- Radial incision and cutting (RIC) is explored as a new method for treating lower intestinal tract stenosis, aiming for high success rates and symptom relief, but patients often experience re-stenosis after the procedure.
- In a pilot study involving 20 patients, RIC was performed with the addition of triamcinolone acetonide (TA), and the safety and efficacy were assessed after two months, focusing on adverse events and symptom improvement.
- Results showed a delayed bleeding rate of 23.8%, but no perforations occurred; while symptoms improved, TA didn’t seem to significantly prevent re-stenosis, suggesting the need for further research.
Background: Levodopa-induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of Parkinson's disease (PD). Previous evidence suggests a connection between LID and a disruption of the dopaminergic system as well as genes implicated in PD, including GBA1 and LRRK2.
Objectives: Our goal was to investigate the effects of genetic variants on risk and time to LID.
Article Synopsis
- The study by the Epilepsy Subcommittee of the Japanese Society of General Hospital Psychiatry aimed to identify challenges that psychiatrists face when treating epilepsy and transitioning patients from pediatric to adult care.
- A survey was conducted with 1,980 psychiatrists, out of which 545 responded, revealing that a significant majority (89.2%) felt hesitant about treating epilepsy and managing the transition of patients.
- Factors like years of experience, board certification in epilepsy, and workplace support from specialists were associated with reduced hesitancy and increased confidence in providing quality care for epilepsy patients.*
Article Synopsis
- The study investigates LRRK2-associated parkinsonism cases, focusing on the presence or absence of pathologic alpha-synuclein aggregates, which is critical for developing treatments.
- Results indicate that those without alpha-synuclein aggregates are generally older, have a similar diagnosis duration, and experience different motor and olfactory symptoms compared to those with aggregates.
- The analysis highlights the need for further understanding of the clinical features and biological differences to enhance therapeutic strategies for Parkinson's disease.
Article Synopsis
- Parkinson's disease (PD) is influenced by genetics, but much of its heritability is still unclear due to previous focus on single nucleotide variants, while more complex genetic variations have been less studied.
- A specific CT-rich region in the SNCA gene may connect to PD risk, but its detailed role has not been explored until now.
- The study utilized advanced sequencing techniques on a large participant group, confirming existing associations and identifying new ones, while suggesting that the CT-rich region's disease association may not be solely driven by SNCA gene expression.
Although large-scale genetic association studies have proven useful for the delineation of neurodegenerative disease processes, we still lack a full understanding of the pathological mechanisms of these diseases, resulting in few appropriate treatment options and diagnostic challenges. To mitigate these gaps, the Neurodegenerative Disease Knowledge Portal (NDKP) was created as an open-science initiative with the aim to aggregate, enable analysis, and display all available genomic datasets of neurodegenerative disease, while protecting the integrity and confidentiality of the underlying datasets. The portal contains 218 genomic datasets, including genotyping and sequencing studies, of individuals across ten different phenotypic groups, including neurological conditions such as Alzheimer's disease, amyotrophic lateral sclerosis, Lewy body dementia, and Parkinson's disease.
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- * A study involving 6,766 PD patients over several years examined how genetic factors influence motor progression and mortality, revealing the APOE ε4 allele as significantly impacting mortality rates.
- * Four new genetic loci were identified, linked to motor progression, suggesting potential targets for future treatment strategies in PD, although further investigation is necessary to understand their biological implications.
Oxygen is critical for all metazoan organisms on the earth and impacts various biological processes in physiological and pathological conditions. While oxygen-sensing systems inducing acute hypoxic responses, including the hypoxia-inducible factor pathway, have been identified, those operating in prolonged hypoxia remain to be elucidated. Here we show that pyridoxine 5'-phosphate oxidase (PNPO), which catalyses bioactivation of vitamin B6, serves as an oxygen sensor and regulates lysosomal activity in macrophages.
View Article and Find Full Text PDFBackground: Recent studies identified increased cerebrospinal fluid (CSF) DOPA decarboxylase (DDC) as a promising biomarker for parkinsonian disorders, suggesting a compensation to dying dopaminergic neurons. A correlation with 123I-FP-CIT-SPECT (DaT-SPECT) imaging could shed light on this link.
Objective: The objective is to assess the relationship between CSF DDC levels and DaT-SPECT binding values.
A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of Parkinson's disease (PD) in the Finnish population. Here, we investigate the prevalence of RFC1 (AAGGG) expansions in PD patients of non-Finnish European ancestry in 1609 individuals from the Parkinson's Progression Markers Initiative study. We identified four PD patients carrying the biallelic RFC1 (AAGGG) expansion and did not identify any carriers in controls.
View Article and Find Full Text PDFIntroduction: Alzheimer's disease (AD) pathology is defined by β-amyloid (Aβ) plaques and neurofibrillary tau, but Lewy bodies (LBs; 𝛼-synuclein aggregates) are a common co-pathology for which effective biomarkers are needed.
Methods: A validated α-synuclein Seed Amplification Assay (SAA) was used on recent cerebrospinal fluid (CSF) samples from 1638 Alzheimer's Disease Neuroimaging Initiative (ADNI) participants, 78 with LB-pathology confirmation at autopsy. We compared SAA outcomes with neuropathology, Aβ and tau biomarkers, risk-factors, genetics, and cognitive trajectories.
In natural microbiomes, microorganisms interact with each other and exhibit diverse functions. Microbiome engineering, which enables bacterial knockdown, is a promising method to elucidate the functions of targeted bacteria in microbiomes. However, few methods to selectively kill target microorganisms in the microbiome without affecting the growth of nontarget microorganisms are available.
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