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Article
Suppression of the dwarf phenotype of an Arabidopsis mutant defective in thermospermine biosynthesis by a synonymous codon change in the SAC51 uORF
Thermospermine plays a critical role in negatively regulating xylem development in angiosperms. A mutant of Arabidopsis thaliana that is defective in thermospermine biosynthesis, acaulis5 (acl5), exhibits a dwarf...
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Article
Acute monocytic leukemia with KMT2A::LASP1 developed 9 months after diagnosis of acute megakaryoblastic leukemia in a 2-year-old boy
Acute myeloid leukemia (AML) is known as one of the subsequent malignant neoplasms that can develop after cancer treatment, but it is difficult to distinguish from relapse when the preceding cancer is leukemia...
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Article
Longitudinal health-related quality of life analysis in childhood cancer survivors after proton beam therapy
Whilst proton beam therapy (PBT) for children with cancer is expected to reduce their comorbidities, to date only a limited number of studies have been published. To analyze the long-term comorbidity and healt...
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Article
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan
Patients with inborn errors of immunity (IEI) manifest various initial symptoms; however, those that are critical for the early diagnosis of IEI have not been identified. Also, the significance of the ten warn...
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Article
Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan
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Article
Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan
We conducted a nationwide survey of inborn errors of immunity (IEI) in Japan for the second time in 10 years, focusing on protective measures for IEI patients against infectious diseases. Questionnaires were s...
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Article
Involvement of the optic pathway and outcome of visual function in patients with neurohypophyseal germ cell tumor
Patients with neurohypophyseal germ cell tumors (GCTs) typically present with visual problems. Hence, this study aimed to assess optic pathway involvement based on clinical and radiological findings and to val...
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Article
Poststreptococcal acute glomerulonephritis in a girl with renal cell carcinoma: possible pathophysiological association
The severity of the poststreptococcal acute glomerulonephritis is considered to be modulated by the immune response of each individual, although there had been few reports regarding specific factors. Renal cel...
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Article
Drug screening with a novel tumor-derived cell line identified alternative therapeutic options for patients with atypical teratoid/rhabdoid tumor
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare intracranial tumor occurring predominantly in young children. The prognosis is poor, and no effective treatment is currently available. To develop novel effec...
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Article
Time to diagnosis and clinical characteristics in pediatric brain tumor patients
We aimed to identify factors that affect the time to diagnosis in pediatric brain tumors and investigate the effect of time to diagnosis on clinical outcome.
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Article
Open AccessNovel ARX mutation identified in infantile spasm syndrome patient
We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy....
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Article
Proton therapy for newly diagnosed pediatric diffuse intrinsic pontine glioma
Diffuse intrinsic pontine glioma (DIPG) is a type of brain malignancy with a very poor prognosis. Although various radiation and chemotherapy protocols have been attempted, only conventional radiotherapy has y...
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Article
A long-term survivor of pediatric midline glioma with H3F3A K27M and BRAF V600E double mutations
We report a case of 2-year-old female with lateral ventricular glioma harboring both H3F3A K27M and BRAF V600E mutations. By the methylation analysis, the tumor was classified as a diffuse midline glioma H3 K27M ...
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Article
Open AccessA novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macroce...
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Article
Identification of a novel KLC1–ROS1 fusion in a case of pediatric low-grade localized glioma
The proto-oncogene tyrosine-protein kinase ROS1 (ROS1) is a tyrosine kinase that is closely related to anaplastic lymphoma kinase receptor (ALK). We describe a novel KLC1–ROS1 fusion identified in a case of pedia...
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Article
Sentinel node biopsy for axillary management after neoadjuvant therapy for breast cancer: a single-center retrospective analysis with long follow-up
Sentinel node biopsy (SNB) after neoadjuvant therapy (NAT) for breast cancer remains controversial. We conducted a retrospective study of patients who underwent SNB after NAT to evaluate the effectiveness of t...
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Article
Open AccessA novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak
We report a 10-year-old girl with Bardet–Biedl syndrome caused by a novel mutation in the Bardet–Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly,...
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Article
Open AccessA comparative study of dose distribution of PBT, 3D-CRT and IMRT for pediatric brain tumors
It was reported that proton beam therapy (PBT) reduced the normal brain dose compared with X-ray therapy for pediatric brain tumors. We considered whether there was not the condition that PBT was more disadvan...
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Article
Pediatric thalamic glioma with H3F3A K27M mutation, which was detected before and after malignant transformation: a case report
Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas a...
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Article
Open AccessProton beam therapy for a patient with large rhabdomyosarcoma of the body trunk
We present the clinical course of a pediatric patient with large rhabdomyosarcoma of the body trunk who received proton beam therapy (PBT).
