Sumiko Yoshida
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View article: Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer
Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer Open
Only 15% of young-onset breast cancers have identifiable hereditary germline pathogenic variants (PVs) in an established breast cancer susceptibility gene. However, it is believed that a significant proportion of these breast cancers have …
View article: Utility of Discrepancies Between Friedewald and Martin Equations in Predicting Pathogenic Variants of Familial Hypercholesterolemia in Children
Utility of Discrepancies Between Friedewald and Martin Equations in Predicting Pathogenic Variants of Familial Hypercholesterolemia in Children Open
Discrepancies in LDL-C levels measured by the Friedewald and Martin equations might serve as a useful predictive marker for identifying pathogenic variants of FH, especially in cases of LDL-C <180 mg/dL, which are often challenging to diag…
View article: Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband
Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband Open
Aim: Familial hypercholesterolaemia (FH), an autosomal-dominant disorder, requires early diagnosis to prevent atherosclerosis in children and coronary artery disease (CAD) in their parents. This study aimed to evaluate the effectiveness an…
View article: Association between peripheral and coronary microvascular function and the impact of myocardial bridging
Association between peripheral and coronary microvascular function and the impact of myocardial bridging Open
The reactive hyperemia index (RHI) is a marker of peripheral microvascular function influenced by both endothelium‐dependent and independent mechanisms. Myocardial bridging (MB) may impact coronary microvascular function, but its effect on…
View article: High Rates of Abnormal Glucose Metabolism Detected by 75 g Oral Glucose Tolerance Test in Major Psychiatric Patients with Normal HbA1c and Fasting Glucose Levels
High Rates of Abnormal Glucose Metabolism Detected by 75 g Oral Glucose Tolerance Test in Major Psychiatric Patients with Normal HbA1c and Fasting Glucose Levels Open
Objectives: Comorbid diabetes is an important factor in the treatment of major psychiatric disorders. However, a substantial proportion of diabetic patients remain undetected by routine diabetic indices such as blood glucose and HbA1c. Thi…
View article: Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy Open
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 a…
View article: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome- Open
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by various combinations of autonomic failure, parkinsonism, and cerebellar ataxia. To elucidate variants associated with MSA, we have been conducting short-read-ba…
View article: Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy) Open
Background Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. This study aimed to …
View article: Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes Open
Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic diseases remain undiagnosed. Long-read sequencing technologies are expected to s…
View article: Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis Open
The Japanese archipelago is a terminal location for human migration, and the contemporary Japanese people represent a unique population whose genomic diversity has been shaped by multiple migrations from Eurasia. We analyzed the genomic ch…
View article: Brain Abnormalities in Becker Muscular Dystrophy: Evaluation by Voxel-Based DTI and Morphometric Analysis
Brain Abnormalities in Becker Muscular Dystrophy: Evaluation by Voxel-Based DTI and Morphometric Analysis Open
A DTI metric analysis is useful to detect white-matter microstructural abnormalities in Becker muscular dystrophy that may be affected by the Dp140 isoform expression.
View article: FRI461 Two-years Course Of Subacute Thyroiditis After COVID-19 Vaccination: A Case Report
FRI461 Two-years Course Of Subacute Thyroiditis After COVID-19 Vaccination: A Case Report Open
Disclosure: S. Yoshida: None. COVID-19 has been reported to cause subacute thyroiditis. Furthermore, the literature includes cases of COVID-19 vaccine-related subacute thyroiditis, but few reports describe the long-term course of vaccine-i…
View article: Social difficulties and costs/burden of adult Duchenne muscular dystrophy in Japan: A questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Social difficulties and costs/burden of adult Duchenne muscular dystrophy in Japan: A questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy) Open
Background Little is known about the social difficulties, economic burden, and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. Th…
View article: Discrepancy between Clinician-rated and Self-reported Depression Severity is Associated with Adverse Childhood Experience, Autistic-like Traits, and Coping Styles in Mood Disorders
Discrepancy between Clinician-rated and Self-reported Depression Severity is Associated with Adverse Childhood Experience, Autistic-like Traits, and Coping Styles in Mood Disorders Open
These findings suggest that patients with adverse emotional experiences, autistic-like traits, and self-blame coping styles perceive greater distress than that evaluated objectively by clinicians. The results indicate the need for inclusio…
View article: Vascular Endothelial Function Is Associated with eGFR Slope in Female and Non-Smoking Male Individuals with Cardiovascular Risk Factors: A Pilot Study on the Predictive Value of FMD for Renal Prognosis
Vascular Endothelial Function Is Associated with eGFR Slope in Female and Non-Smoking Male Individuals with Cardiovascular Risk Factors: A Pilot Study on the Predictive Value of FMD for Renal Prognosis Open
In individuals with cardiovascular risk factors, evaluation of vascular endothelial function enables prediction of renal prognosis in females and non-smoking males.
View article: Exploring the genetic diversity of the Japanese Population: Insights from a Large-Scale Whole Genome Sequencing Analysis
Exploring the genetic diversity of the Japanese Population: Insights from a Large-Scale Whole Genome Sequencing Analysis Open
The Japanese archipelago is a terminal location for human migration, and the contemporary Japanese people represent a unique population whose genomic diversity has been shaped by multiple migrations from Eurasia. Through high-coverage whol…
View article: Plasma Heparin Cofactor II Activity Is Inversely Associated with Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in Patients with Type 2 Diabetes Mellitus
Plasma Heparin Cofactor II Activity Is Inversely Associated with Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in Patients with Type 2 Diabetes Mellitus Open
Plasma HCII activity was inversely associated with clinical hepatic fibrosis indices including FIB-4 index, NFS and APRI and with the prevalence of advanced hepatic fibrosis in patients with T2DM. The results suggest that HCII can serve as…
View article: Novel method utilizing bisulfite conversion with dual amplification‐refractory mutation system polymerase chain reaction to detect circulating pancreatic β‐cell <scp>cfDNA</scp>
Novel method utilizing bisulfite conversion with dual amplification‐refractory mutation system polymerase chain reaction to detect circulating pancreatic β‐cell <span>cfDNA</span> Open
Aims/Introduction Several research groups have reported methods for quantifying pancreatic beta cell (β‐cell) injury by measuring β‐cell‐specific CpG unmethylation of the insulin gene in circulation using digital droplet PCR or next‐genera…
View article: Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy
Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy Open
This study aimed to clarify the characteristics and progressive changes of brain image abnormalities in Duchenne muscular dystrophy (DMD). Brain images of 39 adult patients (median age, 24 years) were retrospectively reviewed, along with i…
View article: Relationship of food allergy with quality of life and sleep in psychiatric patients
Relationship of food allergy with quality of life and sleep in psychiatric patients Open
Aim Few studies have examined the relationship between food allergy (FA) and psychiatric disorders. We aimed to examine the possible relationship of FA with quality of life (QOL) and sleep in adult patients with psychiatric disorders. Meth…
View article: Gut permeability and its clinical relevance in schizophrenia
Gut permeability and its clinical relevance in schizophrenia Open
Aim We aimed to examine the gut permeability in patients with schizophrenia and its relevance to schizophrenia symptoms, medication, cognitive functions, and blood immune markers. Methods We selected 22 patients with schizophrenia (mean ag…
View article: Porphyromonas gingivalis Administration Induces Gestational Obesity, Alters Gene Expression in the Liver and Brown Adipose Tissue in Pregnant Mice, and Causes Underweight in Fetuses
Porphyromonas gingivalis Administration Induces Gestational Obesity, Alters Gene Expression in the Liver and Brown Adipose Tissue in Pregnant Mice, and Causes Underweight in Fetuses Open
Preventing adverse pregnancy outcomes is crucial for maternal and child health. Periodontal disease is a risk factor for many systemic diseases including adverse pregnancy outcomes, such as preterm birth and low birth weight. In addition, …
View article: An attempt to create a treatment algorithm of central adrenal insufficiency using CRH test, DHEA-S and clinical evaluation
An attempt to create a treatment algorithm of central adrenal insufficiency using CRH test, DHEA-S and clinical evaluation Open
Objective : To examine diagnostic performance of corticotropin-releasing hormone (CRH) test combined with baseline dehydroepiandrosterone sulfate (DHEA-S) in patients with a suspect of central adrenal insufficiency. Methods : Patients (n=2…
View article: Effectiveness of a Diabetes Oral Nursing Program Including a Modified Diabetes Oral Health Assessment Tool for Nurses (M-DiOHAT©) : A 12-Month Follow-Up Intervention Study
Effectiveness of a Diabetes Oral Nursing Program Including a Modified Diabetes Oral Health Assessment Tool for Nurses (M-DiOHAT©) : A 12-Month Follow-Up Intervention Study Open
This program improved participants' M-DiOHAT© total score, motivation stage score, and dental visits. These results suggest the program improved oral health perceptions and behaviors among individuals with diabetes. J. Med. Invest. 69 : 86…
View article: Plasma heparin cofactor II activity is inversely associated with albuminuria and its annual deterioration in patients with diabetes
Plasma heparin cofactor II activity is inversely associated with albuminuria and its annual deterioration in patients with diabetes Open
Aims/Introduction Thrombin exerts various pathophysiological functions by activating protease‐activated receptors (PARs). Recent data have shown that PARs influence the development of glomerular diseases including diabetic kidney disease (…
View article: Effect of Lacticaseibacillus paracasei Strain Shirota on Improvement in Depressive Symptoms, and Its Association with Abundance of Actinobacteria in Gut Microbiota
Effect of Lacticaseibacillus paracasei Strain Shirota on Improvement in Depressive Symptoms, and Its Association with Abundance of Actinobacteria in Gut Microbiota Open
We previously reported lower counts of lactobacilli and Bifidobacterium in the gut microbiota of patients with major depressive disorder (MDD), compared with healthy controls. This prompted us to investigate the possible efficacy of a prob…
View article: Relationship between NAFLD and Periodontal Disease from the View of Clinical and Basic Research, and Immunological Response
Relationship between NAFLD and Periodontal Disease from the View of Clinical and Basic Research, and Immunological Response Open
Periodontal disease is an inflammatory disease caused by pathogenic oral microorganisms that leads to the destruction of alveolar bone and connective tissues around the teeth. Although many studies have shown that periodontal disease is a …
View article: Basal insulin requirement in patients with type 1 diabetes depends on the age and body mass index
Basal insulin requirement in patients with type 1 diabetes depends on the age and body mass index Open
Aims/Introduction To investigate the basal insulin requirement in patients with type 1 diabetes who are on multiple daily injections (MDI) and to assess the patient characteristics that affect the percent of total daily basal insulin dose …