Publications by authors named "Hidenori Ohnishi"
Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes severe illness and mortality in patients with immunodeficiency. Although vaccination has been recommended, the induction of protective antibodies by immunization, and thus the disease-preventive effect, has proven insufficient in immunodeficient patients, especially in those with predominantly antibody deficiency. A monoclonal antibody combination of tixagevimab and cilgavimab (TIX/CIL) was developed as a pre-exposure prophylaxis (PrEP).
View Article and Find Full Text PDFBackground: Oral food challenge tests are considered the reference standard for diagnosing food allergies; however, studies on their real-world implementation rates are limited.
Objective: The study aimed to investigate the proportion of school-age children who underwent the oral food challenge test and to understand the motivations behind food elimination and utilization of various health care services.
Methods: The questionnaire-based survey for the parents of the students who submitted the "Certificate for School Life Management (For Allergic Diseases)" was conducted across public elementary and junior high schools in Gifu prefecture, Japan.
Purpose: Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for inborn errors of immunity (IEIs).
Methods: DBS samples from 40 healthy newborns and eight healthy adults were subjected to non-targeted proteomics analysis using liquid chromatography-mass spectrometry after removal of the hydrophilic fraction.
Article Synopsis
- A population pharmacokinetic analysis was performed on data from 215 Japanese subjects taking oral sirolimus, identifying factors that affect the drug's pharmacokinetics across different age groups, including neonates, infants, and adults.
- The study found that sirolimus levels increased with higher hemoglobin and that the granule form had significantly higher exposure than the tablet form, while certain drugs decreased its levels significantly.
- The PopPK model developed can help customize sirolimus dosing for individuals based on their age and body weight to ensure effective treatment within the proper concentration range.
Article Synopsis
- Students with developmental disabilities, particularly those with ASD and ADHD, experience anxiety about transitioning from high school to college environments.
- This study surveyed first-year Japanese university students to assess the prevalence of ASD and ADHD, finding that 8.58% exhibited tendencies for these conditions.
- Mental health assessments indicated that students with ASD and ADHD showed significantly higher risks for various psychological symptoms compared to controls, suggesting a need for targeted support during their transition to university.
Purpose: Transcription factor 3 (TCF3) encodes 2 transcription factors generated by alternative splicing, E12 and E47, which contribute to early lymphocyte differentiation. In humans, autosomal dominant (AD) E47 transcription factor deficiency is an inborn error of immunity characterized by B-cell deficiency and agammaglobulinemia. Only the recurrent de novo p.
View Article and Find Full Text PDFEpileptic seizures can be worsened by infections; however, they sometimes disappear or decrease after an acute viral infection, although this is rare. We report the spontaneous remission of epileptic seizures following norovirus-induced viral gastroenteritis in a boy with encephalopathy. He had clonic seizures daily from the age of two months and developed epileptic spasms at 14 months of age; he was admitted to the hospital at this time.
View Article and Find Full Text PDFBackground: Subacute myelo-optico-neuropathy (SMON) is a neurological disorder associated with the administration of clioquinol, particularly at very high doses. Although clioquinol has been used worldwide, there was an outbreak of SMON in the 1950s-1970s in which the majority of cases were in Japan, prompting speculation that the unique genetic background of the Japanese population may have contributed to the development of SMON. Recently, a possible association between loss-of-function polymorphisms in NQO1 and the development of SMON has been reported.
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- A low-level mutation (c.182 A > G, Q61R) in the NRAS gene was found in patients with kaposiform lymphangiomatosis, but its effects on lesion environment remain unclear.
- Researchers created NRASQ61R mutated lymphatic endothelial cells to analyze their morphology, function, and protein expression.
- The NRASQ61R cells exhibited poor tube formation, low proliferation, and high migration rates, with altered signaling pathways that could be mitigated by MEK inhibitor treatment.
Article Synopsis
- Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare disorders linked to abnormal development of the lymphatic system, with recent findings indicating the NRAS p.Q61R genetic variant's involvement in these conditions.
- Research using a specific mouse model showed that embryos with the NRAS p.Q61R variant had wider lymphatic vessels and fewer branching lymphatic vessels, alongside an increase in lymphatic endothelial cells (LECs).
- Despite these findings in embryos, the same genetic variant did not lead to abnormal lymphatic development post-birth, suggesting that while the model provides insights, it may not fully replicate the human forms of GLA and KLA.
Article Synopsis
- Identifying cells infected by Epstein-Barr virus (EBV) is crucial for understanding the disease's development, creating treatment plans, and predicting patient outcomes.
- The study utilized the PrimeFlow™ RNA Assay Kit to detect EBV-encoded small RNAs (EBERs) in various patient groups, including those with chronic active EBV disease and other EBV-related disorders.
- Findings revealed that patients with chronic active EBV disease showed widespread infection in T and NK cells, while other disorders demonstrated a mix of infected cell types, indicating that EBV may affect multiple cell types beyond just B cells.
Introduction And Importance: The Kasabach-Merritt Phenomenon (KMP), characterized by thrombocytopenia and consumptive coagulopathy due to endothelial cell growth in the infantile vascular tumor kaposiform hemangioendothelioma, presents a therapeutic challenge. This case highlights the novel use of sirolimus in a neonate, an approach less explored in this age group.
Case Presentation: A female neonate presented with a right anterior chest mass, progressing to respiratory distress and congestive heart failure.
This phase 3, open-label, multidose study (NCT04346108) evaluated the pharmacokinetics, safety, tolerability, and efficacy of immunoglobulin subcutaneous (human) 20% solution (Ig20Gly) administered weekly and every 2 weeks in Japanese patients with primary immunodeficiency diseases (PIDs). The study was conducted at eight study sites in Japan and enrolled patients aged ≥2 years with PIDs treated using a stable intravenous immunoglobulin dose for ≥3 months prior to the study. Patients received intravenous immunoglobulin every 3 or 4 weeks at pre-study dose (200-600 mg/kg) for 13 weeks (Epoch 1), subcutaneous Ig20Gly (50-200 mg/kg) once weekly for 24 weeks (Epoch 2), and Ig20Gly (100-400 mg/kg) every 2 weeks for 12 weeks (Epoch 3).
View Article and Find Full Text PDFCongenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.
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- The study investigates the clinical features of patients with cryopyrin-associated periodic syndrome (CAPS) in Japan and assesses the effectiveness and safety of the IL-1 inhibitor canakinumab in treating these patients.
- Out of 101 patients analyzed, a significant majority achieved complete remission with canakinumab, but 23.7% did not respond, experiencing serious complications including deaths and organ damage.
- The research highlights the importance of early intervention and suggests that combining canakinumab with other therapies can be beneficial for those who don't adequately respond to canakinumab alone.
Aim: A20 haploinsufficiency (HA20) is a recently described autoinflammatory disease that manifests symptoms similar to those of Behçet's disease. However, little is known about the involvement of the liver in HA20. Here, we report a case of HA20 complicated by autoimmune hepatitis (AIH).
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- This study aimed to improve the detection of somatic UBA1 variants in patients suspected of having VEXAS syndrome and to create a scoring system to identify those with pathogenic variants.
- Researchers analyzed 89 Japanese patients (mostly male, median age 69.3 years) using advanced genetic techniques such as PNA-PCR and deep sequencing to screen for UBA1 variants.
- They found that 44.9% of patients had pathogenic variants, and their scoring system, which included factors like age and specific symptoms, effectively predicted the presence of these variants with a high accuracy (AUC of 0.908).
Article Synopsis
- Transient abnormal myelopoiesis (TAM) is a condition often seen in newborns, especially those with Down syndrome, marked by high white blood cell counts and the presence of mutated megakaryoblasts carrying GATA1 gene mutations.
- A case study of a 2-month-old boy with Down syndrome showed that while his blood blasts resolved without treatment, he suffered from severe liver failure linked to fibrosis, highlighting the disease's dangers.
- The study suggests that a double-immunostaining technique for GATA1 and CD42b can effectively identify TAM-related blast cells, making it useful for routine clinical evaluations during crisis situations.
Advances in next-generation sequencing technology have identified many genes responsible for inborn errors of immunity (IEI). However, there is still room for improvement in the efficiency of genetic diagnosis. Recently, RNA sequencing and proteomics using peripheral blood mononuclear cells (PBMCs) have gained attention, but only some studies have integrated these analyses in IEI.
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