Article
Immunology
Danielle Rodrigues Cortez, Fabio Mitsuo Lima, Joao Luis Reis-Cunha, Daniella Castanheira Bartholomeu, Rolando Andre Rios Villacis, Silvia Regina Rogatto, Andre Guilherme Costa-Martins, Fernanda Sycko Marchiano, Rafaela Andrade do Carmo, Jose Franco da Silveira, Marjorie Mendes Marini
Summary: In this study, the genetic differences between two lineages of Chagas disease-causing parasite T. cruzi were analyzed using intraspecific array-based comparative genomic hybridization (aCGH). The results showed that clone D11 had more chromosomal gains and losses compared to the parental G strain. These genomic changes suggest a dynamic genome in clone D11 that responds to environmental stress by altering gene copy numbers and generating segmental aneuploidy.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Igor N. Lebedev, Tatyana Karamysheva, Eugeny A. Elisaphenko, Alexey Makunin, Daria Zhigalina, Maria E. Lopatkina, Gleb Drozdov, Aleksander D. Cheremnykh, Natalia B. Torkhova, Gulnara N. Seitova, Stanislav A. Vasilyev, Anna A. Kashevarova, Ludmila P. Nazarenko, Nikolay B. Rubtsov
Summary: The case study presented a prenatal diagnosis of a foetus with mosaic sSMC(10) and identified a ring structure derived from chromosome 10 with specific regions involved. Despite the presence of a 9 Mb euchromatin region, the sSMC did not result in clinical manifestations and a healthy girl was born. The study suggests that the ring structure of sSMCs could influence their manifestations and should be considered in genetic counselling during prenatal diagnosis.
Article
Biochemistry & Molecular Biology
Keiji Ogura, Yoshiko Ayabe, Chihiro Harada, Ignacia Braga Tanaka, Satoshi Tanaka, Jun-ichiro Komura
Summary: This study reported the transgenerational effects of chronic low dose-rate irradiation in mice, revealing an increase in de novo copy number variations in the offspring of irradiated male mice. However, no significant difference was found in the size of the de novo deletions between the irradiated and non-irradiated groups. Further analysis suggested a potential association between de novo copy-number variations and shorter life spans.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Jiro Akimoto
Summary: Gliomatosis cerebri (GC) is a unique glial tumor that has been recognized as a distinct entity of neuroepithelial tumors. However, in the 2016 WHO classification, it was removed as a specific pathological entity and labeled as a growth pattern of diffuse glioma. Many neuro-oncologists have criticized this decision and argued for the continued inclusion of GC in discussions of brain tumors. In Japan, there are ongoing efforts to conduct multicenter research on GC pathology and develop molecular pathological evidence to support future WHO classifications.
BRAIN TUMOR PATHOLOGY
(2023)
Article
Pathology
Daniel R. Rissi, Taryn A. Donovan, Brian F. Porter, Chad Frank, Andrew D. Miller
Summary: Gliomatosis cerebri is a subtype of glioma characterized by diffuse infiltration within the brain parenchyma, rather than specific architectural distortion. Clinical cases in canines have shown variable morphological and immunohistochemical features, suggesting a need for further research to confirm its classification as a distinct infiltrative growth pattern of canine glioma.
VETERINARY PATHOLOGY
(2021)
Article
Evolutionary Biology
Sungsik Kong, Laura S. Kubatko
Summary: Interspecific hybridization plays a vital role in evolutionary processes and contributes to genetic diversity and species diversity. Through comparative evaluation using simulated data, we found that HyDe and the D-statistic are powerful for detecting hybridization, while structure and ADMIXTURE sometimes fail to identify hybrids, particularly in scenarios with asymmetric parental contributions.
SYSTEMATIC BIOLOGY
(2021)
Article
Microbiology
Meiqin Zheng, Yutong Kang, Yangyang Shen, Yi Xu, Fangyi Xu, Yanjiong Chen
Summary: In this study, a highly virulent ocular pathogen was isolated using metagenomic sequencing and bioinformatics analysis, providing important insights into the composition and genome characteristics of pathogens in endophthalmitis patients.
CURRENT MICROBIOLOGY
(2023)
Article
Oncology
Iris Dive, Eike Steidl, Marlies Wagner, Katharina Filipski, Michael C. Burger, Kea Franz, Patrick N. Harter, Oliver Bahr, Emmanouil Fokas, Ulrich Herrlinger, Joachim P. Steinbach
Summary: The study found major differences in the selection of first-line therapies between patients with gliomatosis cerebri (GC) and those without GC, suggesting that these differences may partly explain the worse prognosis of GC patients.
Article
Clinical Neurology
Limin Li, Choong Yi Fong, Wei Kang Lim, Jen Chun Foo, Raja Rizal Azman, Nor Faizal Ahmad Bahuri, Kein Seong Mun
Summary: Gliomatosis cerebri (GC) is a rare form of diffuse glioma that infiltrates extensively and mimics other disorders. Our case report presents a teenager with bi-thalamic and left hippocampal-parahippocampal lesions and symptoms of motor hemiparesis and hemiataxia. Over time, the lesions spread to the bi-temporal, right insular cortex, and bi-frontal cerebral hemisphere, causing multiple cranial palsies and progressive dementia. Histological examination revealed a high-grade anaplastic astrocytoma consistent with GC. This case expands the phenotypic spectrum of GC and highlights the importance of considering GC in children with deep gray matter lesions and accompanying neurological symptoms.
Article
Clinical Neurology
Brice Chanez, Romain Appay, Arnaud Guille, Arnaud Lagarde, Carole Colin, Jose Adelaide, Emilie Denicolai, Carine Jiguet-Jiglaire, Celine Bequet, Thomas Graillon, Sebastien Boissonneau, Isabelle Nanni-Metellus, Henry Dufour, Dominique Figarella-Branger, Olivier Chinot, Emeline Tabouret
Summary: Our study identified frequent alterations of MPDZ at relapse in IDHwt glioblastoma patients, suggesting a potential role in the systematic resistance of these tumors. These findings provide a potential avenue for the development of new treatment strategies.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Chemistry, Analytical
Xueqin Huang, Hemi Tian, Lei Huang, Qiuxia Chen, Yingqi Yang, Runmin Zeng, Jun Xu, Shanze Chen, Xia Zhou, Guangqiang Liu, Haoyu Li, Yuan Zhang, Jianglin Zhang, Junxia Zheng, Huaihong Cai, Haibo Zhou
Summary: In this study, a dual-mode biosensor combining surface-enhanced Raman scattering and fluorescence (SERS/FL) was developed for the detection of hepatocellular carcinoma (HCC)-related miRNA (miR-224). The biosensor utilized a well-arranged Au nanoarray substrate coupled with the target-catalyzed hairpin assembly (CHA) strategy, enabling highly sensitive and specific detection of miR-224. The biosensor demonstrated wide linear range, low limit of detection, exceptional specificity, and reliability in practical analysis of human blood samples.
ANALYTICAL CHEMISTRY
(2023)
Article
Agronomy
Guangning Yu, Yanru Cui, Yuxin Jiao, Kai Zhou, Xin Wang, Wenyan Yang, Yiyi Xu, Kun Yang, Xuecai Zhang, Pengcheng Li, Zefeng Yang, Yang Xu, Chenwu Xu
Summary: Genomic selection (GS) is a powerful tool for improving genetic gain in maize breeding, but its widespread use is limited by the high cost of genotyping platforms. This study compared the predictabilities of four agronomic traits in maize hybrids using three different genotyping platforms: genotyping by sequencing (GBS), a 40K SNP array, and target sequence capture (TSC). The GBS marker dataset yielded the highest predictabilities, followed by TSC and SNP array datasets. Additionally, the study found that 1K SNPs were sufficient to achieve comparable predictabilities to 10K and all SNPs, and certain statistical models performed well while others performed poorly.
Article
Pathology
Turgay Cokyaman, Fatma Silan
Summary: This study evaluated the contribution of aCGH to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings. The results showed that aCGH analysis can increase the diagnostic rate for undiagnosed patients with neurocognitive disturbances or dysmorphic syndrome.
FETAL AND PEDIATRIC PATHOLOGY
(2022)
Article
Multidisciplinary Sciences
Elliot M. Gardner, Sam Bruun-Lund, Matti Niissalo, Bhanumas Chantarasuwan, Wendy L. Clement, Connie Geri, Rhett D. Harrison, Andrew L. Hipp, Maxime Holvoet, Gillian Khew, Finn Kjellberg, Shuai Liao, Leandro Cardoso Pederneiras, Yan-Qiong Peng, Joan T. Pereira, Quentin Phillipps, Aida Shafreena Ahmad Puad, Jean-Yves Rasplus, Julia Sang, Sverre Juul Schou, Elango Velautham, George D. Weiblen, Nyree J. C. Zerega, Qian Zhang, Zhen Zhang, Christopher Baraloto, Nina Ronste
Summary: Studies on the evolution of flowering plants have mainly focused on isolating mechanisms, such as pollinator specificity. However, recent studies have recognized the role of introgressive hybridization in the evolution of plant species, suggesting that reproductive barriers, like pollinator specialization, may not always prevent hybridization. This study investigates the balance between introgression and reproductive isolation in fig trees and highlights the importance of hybridization in the evolutionary history of the species.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biology
W. A. S. Ferreira, C. K. N. Amorim, R. R. Burbano, R. A. R. Villacis, F. A. Marchi, T. S. Medina, M. M. C. de Lima, E. H. C. de Oliveira
Summary: This study provided a detailed molecular characterization of a new glioblastoma (GBM) cell line AHOL1, including karyotype, copy number alteration (CNA), and transcriptome profiling. Numerous CNAs and DEGs were identified, along with nine druggable genes and 57 overlapping genes enriched in pathways. The study offers unique resources for further research and identifies potential druggable targets for GBM therapeutics and biological investigation.
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
(2021)
Letter
Clinical Neurology
Ka Young Lim, Kwang Hoon Lee, Ji Hoon Phi, Hongseok Yun, Jae Kyung Won, Seung Hong Choi, Sung-Hye Park
Article
Clinical Neurology
Youngbo Shim, Hyun Joo Park, Kyung Hyun Kim, Sung-Hye Park, Kyu-Chang Wang, Ji Yeoun Lee
Summary: This study found that the medullary cord in humans typically degenerates during development, leading to anomalies such as terminal myelocystocele (TMCC) and retained medullary cord (RMC). A 1-month-old boy was identified with features of both TMCC and RMC, providing clinical evidence that they share the same pathoembryogenic origin.
CHILDS NERVOUS SYSTEM
(2022)
Review
Oncology
So Dug Lim, Seong Ik Kim, Jin Woo Park, Jae Kyung Won, Seung-Ki Kim, Ji Hoon Phi, Chun-Kee Chung, Seung-Hong Choi, Hongseok Yun, Sung-Hye Park
Summary: This article provides a thorough analysis of three rare central nervous system tumors, describing their characteristics and diagnostic methods.
BRAIN TUMOR PATHOLOGY
(2022)
Article
Biology
Taeyoung Hwang, Sojin Kim, Tamrin Chowdhury, Hyeon Jong Yu, Kyung-Min Kim, Ho Kang, Jae-Kyung Won, Sung-Hye Park, Joo Heon Shin, Chul-Kee Park
Summary: The study reveals that Alu element-associated post-transcriptional processes and RNA expression are decreased in gliomas, with grade 2 oligodendrogliomas showing the least perturbation in A-to-I editing and circular RNA levels. This provides further insight into gliomagenesis from the perspective of Alu repeat elements.
COMMUNICATIONS BIOLOGY
(2022)
Article
Clinical Neurology
Ka Young Lim, Seong-Ik Kim, Hyunhee Kim, Jeongwan Kang, Jin Woo Park, Jae Kyung Won, Dong-Yeop Shin, Sung-Hye Park
Summary: This report describes two cases that confirm the clinicopathological features of chemotherapy-induced toxic leukoencephalopathy, emphasizing that chemotherapy drugs other than methotrexate can also cause this disease.
Article
Oncology
Byung-Hoon Kim, Hyeonhoon Lee, Kyu Sung Choi, Ju Gang Nam, Chul-Kee Park, Sung-Hye Park, Jin Wook Chung, Seung Hong Choi
Summary: Recent studies have shown promising results in using MRI to predict MGMT methylation status in gliomas. However, the diagnostic performance of these prediction models was not reproducible when using larger datasets. To our knowledge, there has been no study regarding the external validation of MGMT prediction models using large-scale multicenter datasets.
Article
Rehabilitation
Yookyung Lee, Byung-Mo Oh, Sung-Hye Park, Tai Ryoon Han
Summary: This study found that low-frequency rTMS of the ipsilesional hemisphere in the early subacute phase of stroke promotes the expression of angiogenic factors and related genes in the brain, particularly in the injured area.
ANNALS OF REHABILITATION MEDICINE-ARM
(2022)
Article
Clinical Neurology
Ye Yoon Suh, Kwanghoon Lee, Yu-Mi Shim, Ji Hoon Phi, Chul-Kee Park, Seung-Ki Kim, Seung Hong Choi, Hongseok Yun, Sung-Hye Park
Summary: The MYB/MYBL1::QKI fusion activates the oncogene MYB and deletes the tumor suppressor gene QKI. Previously, this fusion was only reported in angiocentric glioma (AG) and diffuse low-grade glioma. This study compares two tumors with the MYB/MYBL1::QKI fusion: a diffuse pediatric-type high-grade glioma (DPedHGG) in an 11-year-old boy and an AG in a 46-year-old woman. Characterization using immunohistochemistry, next-generation sequencing, and methylation profiling reveals their molecular characteristics and supports the presence of MYB/MYBL1 alterations in higher-grade gliomas.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Pediatrics
Yoon Sunwoo, Jung Yoon Choi, Hyun Jin Park, Bo Kyung Kim, Kyung Taek Hong, Sang In Khwarg, Jaemoon Koh, Sung-Hye Park, Dong Hyun Jo, Jeong Hun Kim, Jung-Eun Cheon, Hyoung Jin Kang
Summary: This study presents the treatment outcomes of patients with unilateral retinoblastoma who received primary enucleation and adjuvant chemotherapy. The overall survival rate was 100% and the event-free survival rate was 95%. Treatment with chemotherapy was well tolerated with minimal toxicity. However, further research is needed on risk stratification and treatment intensity.
Editorial Material
Clinical Neurology
M. E. Buckland, C. Sarkar, V. Santosh, M. Al-Hussaini, S. H. Park, T. Tihan, H. K. Ng, T. Komori
Article
Clinical Neurology
Tae-Hwan Park, Kyung Hyun Kim, Seung-Ki Kim, Kyu-Chang Wang, Sung-Hye Park, Ji Yeoun Lee
Summary: Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue lesion that usually occurs in infants and young children within the first 2 years of life. FHI in the central nervous system (CNS) is extremely rare, with only two cases of spinal cord FHI reported so far. We present a unique case of FHI in a 1-month-old girl with a skin dimple in the coccygeal area, where both a skin lesion and an intramedullary mass were diagnosed as FHI. Despite being diagnosed with a neurogenic bladder, the patient maintained normal neurological function and showed good mobility during the 5.5-year follow-up period.
CHILDS NERVOUS SYSTEM
(2023)
Review
Clinical Neurology
Hyunhee Kim, Kwanghoon Lee, Ji Hoon Phi, Sun Ha Paek, Hongseok Yun, Seung Hong Choi, Sung-Hye Park
Summary: This study presents the clinicopathological and molecular genetic characteristics of a neuroepithelial tumor (NET) with EWSR1::PATZ1 fusion, which has recently been discovered in rare central nervous system tumors and soft tissue sarcomas. Two cases of this fusion were identified, with the pediatric case showing a high-grade tumor and longer survival compared to conventional glioblastoma. The TERT promoter mutation may serve as an indicator of high-grade behavior in PATZ1 fusion NET.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Hyunhee Kim, Kwanghoon Lee, Yu -Mi Shim, Eric Eunshik Kim, Seung-Ki Kim, Ji Hoon Phi, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park
Summary: Central neurocytoma is a low-grade neuronal tumor that mainly occurs in the lateral ventricle, and the genetic abnormalities that cause this tumor are poorly understood. Through the study of immunomarkers in fetal and adult brains, as well as supratentorial periventricular tumors, the biomarkers, cell of origin, and tumorigenesis of central neurocytoma were characterized. Immunohistochemical analysis showed that central neurocytomas were positive for certain markers, including FGFR3, SSTR2, TTF-1, GLUT-1, and L1CAM.
LABORATORY INVESTIGATION
(2023)
Article
Biochemistry & Molecular Biology
Hyeongsun Jeong, Hyo Eun Moon, Seongmin Yun, Seung Woo Cho, Hye Ran Park, Sung-Hye Park, Kyungjae Myung, Taejoon Kwon, Sun Ha Paek
Summary: In this study, 13 PDX models derived from 11 brain tumor patients were established. It was found that PDX samples were enriched with brain tumor-related genes and had distinct mutation profiles compared to the original tumors, indicating mutational alterations occurring in the xenograft environment.
Review
Medicine, General & Internal
Jin Woo Park, Kwanghoon Lee, Eric Eunshik Kim, Seong-Ik Kim, Sung-Hye Park
Summary: The methylation classifier is a tool used to accurately classify brain tumors based on their methylation profiles. It helps healthcare professionals predict tumor prognosis and establish personalized treatment plans. However, it has limitations in classifying all types of brain tumors and faces challenges in obtaining reference data and charging patients for its services.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2023)
