Tadafumi Yokoyama
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View article: Comparison of clinical practices during the transitional and young adult phases between patients with oligoarticular/polyarticular juvenile idiopathic arthritis and those with rheumatoid arthritis in Japan
Comparison of clinical practices during the transitional and young adult phases between patients with oligoarticular/polyarticular juvenile idiopathic arthritis and those with rheumatoid arthritis in Japan Open
Despite an overlap in age, patients with JIA and RA exhibit distinct disease characteristics and therapeutic patterns. These differences underscore the need to expand approved treatment options for JIA, promote equitable access to biologic…
View article: Ethical challenges and shared decision-making in the management of renal oligohydramnios sequence: insights from three cases
Ethical challenges and shared decision-making in the management of renal oligohydramnios sequence: insights from three cases Open
View article: Thrombotic thrombocytopenic purpura with juvenile systemic lupus erythematosus: successful treatment with caplacizumab and rituximab
Thrombotic thrombocytopenic purpura with juvenile systemic lupus erythematosus: successful treatment with caplacizumab and rituximab Open
View article: Impairment of Renal Function in Hermansky-Pudlak Syndrome
Impairment of Renal Function in Hermansky-Pudlak Syndrome Open
Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. The genetic types of HPS are associated with a spectrum of multisystemic clinical ma…
View article: An Adolescent Case of Anti-MDA5 Antibody-Positive Juvenile Dermatomyositis With Interstitial Lung Disease Successfully Treated by Multitarget Therapy Avoiding Cyclophosphamide: A Case Report and Literature Review
An Adolescent Case of Anti-MDA5 Antibody-Positive Juvenile Dermatomyositis With Interstitial Lung Disease Successfully Treated by Multitarget Therapy Avoiding Cyclophosphamide: A Case Report and Literature Review Open
View article: Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication
Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication Open
Mutations in the complement factor H ( CFH ) gene are associated with complement dysregulation and the development of atypical hemolytic uremic syndrome (aHUS). Several fusion genes that result from genomic structural variation in the CFH …
View article: Correction: Efficacy and Safety of Long-Term Administration of Esomeprazole in Japanese Pediatric Patients Aged 1–14 Years with Chronic Gastric Acid-Related Disease
Correction: Efficacy and Safety of Long-Term Administration of Esomeprazole in Japanese Pediatric Patients Aged 1–14 Years with Chronic Gastric Acid-Related Disease Open
[This corrects the article on p. 274 in vol. 27, PMID: 39319279.].
View article: Efficacy and Safety of Long-Term Administration of Esomeprazole in Japanese Pediatric Patients Aged 1–14 Years with Chronic Gastric Acid-Related Disease
Efficacy and Safety of Long-Term Administration of Esomeprazole in Japanese Pediatric Patients Aged 1–14 Years with Chronic Gastric Acid-Related Disease Open
Long-term use of 10- or 20-mg, once-daily esomeprazole demonstrated a favorable benefit-risk balance in preventing RE and suppressing recurrence of GU and/or DU secondary to NSAID or LDA therapy in Japanese pediatric patients. No new safet…
View article: Importance of History Taking and Physical Examination Before Rapid Laboratory Test for Seasonal Influenza Virus: A Single-Center Multiple Logistic Analysis
Importance of History Taking and Physical Examination Before Rapid Laboratory Test for Seasonal Influenza Virus: A Single-Center Multiple Logistic Analysis Open
View article: Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial
Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial Open
View article: IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature
IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature Open
View article: Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome Open
View article: Clinical characteristics of immunoglobulin A vasculitis associated with the Mediterranean fever gene mutation in Japanese patients: a case-based literature review
Clinical characteristics of immunoglobulin A vasculitis associated with the Mediterranean fever gene mutation in Japanese patients: a case-based literature review Open
Background. Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood. However, its etiology remains unknown. In the Mediterranean region, 10% of patients with IgAV harbor homozygous and compound heterozygous mutations …
View article: An atypical case of Kawasaki disease with severe pneumonia in a neonate
An atypical case of Kawasaki disease with severe pneumonia in a neonate Open
Background Kawasaki disease (KD) is an acute, febrile, systemic vasculitis of unknown etiology that primarily affects the coronary arteries and generally occurs at around 1 year of age. Although the diagnosis of KD is generally not difficu…
View article: Rapid molecular diagnosis of Parechovirus infection using the reverse transcription loop-mediated isothermal amplification technique
Rapid molecular diagnosis of Parechovirus infection using the reverse transcription loop-mediated isothermal amplification technique Open
Objectives Human parechovirus (HPeV), especially HPeV A3 (HPeV3), causes sepsis-like diseases and sudden infant death syndrome in neonates and young infants. Development of rapid and easier diagnostic laboratory tests for HPeVs is desired.…
View article: CB <sub>1</sub> R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome
CB <sub>1</sub> R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome Open
Hermansky–Pudlak syndrome (HPS) is a rare genetic disorder which, in its most common and severe form, HPS‐1, leads to fatal adult‐onset pulmonary fibrosis (PF) with no effective treatment. We evaluated the role of the endocannabinoid/CB 1 …
View article: Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease Open
Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak…
View article: Rapid Molecular Diagnosis of Parechovirus Infection Using the Reverse Transcription Loop-Mediated Isothermal Amplification Technique
Rapid Molecular Diagnosis of Parechovirus Infection Using the Reverse Transcription Loop-Mediated Isothermal Amplification Technique Open
Objectives Human parechovirus (HPeV), especially HPeV A3 (HPeV3), causes sepsis-like diseases and sudden infant death syndrome in neonates and young infants. However, commercial laboratory tests for HPeVs, including HPeV3, do not exist. Me…
View article: A Bladder Mass in a Patient with Henoch-Schönlein Purpura
A Bladder Mass in a Patient with Henoch-Schönlein Purpura Open
View article: Deletion of Cannabinoid 1 Receptor (CB<sub>1</sub>R) in Myeloid Cells Prevents Lung Inflammation and Neutrophil Infiltration in Bleomycin-Induced Pulmonary Fibrosis in Mice
Deletion of Cannabinoid 1 Receptor (CB<sub>1</sub>R) in Myeloid Cells Prevents Lung Inflammation and Neutrophil Infiltration in Bleomycin-Induced Pulmonary Fibrosis in Mice Open
View article: NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology Open
The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and sphingolipids. NPC1 is …
View article: Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism Open
View article: Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features Open
Background Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge about this disorder by delineating phenotypic features of an unreported C…
View article: Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism
Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism Open
Mitochondrial aminoacyl‐tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the…
View article: Cannabinoid CB1 receptor overactivity contributes to the pathogenesis of idiopathic pulmonary fibrosis
Cannabinoid CB1 receptor overactivity contributes to the pathogenesis of idiopathic pulmonary fibrosis Open
Idiopathic pulmonary fibrosis (IPF) is a life-threatening disease without effective treatment, highlighting the need for identifying new targets and treatment modalities. The pathogenesis of IPF is complex, and engaging multiple targets si…
View article: Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 Open
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are assoc…
View article: Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 Open
[This corrects the article DOI: 10.1371/journal.pgen.1006481.].
View article: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 Open
ATP6V1H is a component of a large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations of individuals in which short stature and osteoporosis co-segregated with a mutation in ATP6V1H. Since V-ATPases are …
View article: Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice
Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice Open
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by recurrent infections, thrombocytopenia, eczema, and high incidence of malignancy and autoimmunity. The cellular mechanisms underlying autoimmun…