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[Clinical features and genetic analysis of four cases of pediatric acute liver failure caused by gene variants].
Zhonghua Gan Zang Bing Za Zhi
November 2024
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou310057, China.
To analyze the clinical and genetic features of pediatric acute liver failure (PALF) caused by neuroblastoma-amplified sequence () gene variants and to investigate the correlation between clinical phenotypes and genotypes. A retrospective analysis was conducted on the clinical data and genetic test results of 4 pediatric patients with gene variants presenting primarily with PALF, who were admitted to the Department of Gastroenterology at the Children's Hospital of Zhejiang University School of Medicine from August 2015 to June 2023. A literature review was performed using the keywords "NBAS", "neuroblastoma amplified sequence", "SOPH", "short stature with optic nerve atrophy and Pelger-Huët anomaly", "liver failure", and "neuroblastoma amplified sequence" in both Chinese and English, searching the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases for articles published from January 2015 to May 2024.
View Article and Find Full Text PDFDeep Learning-Based Blood Abnormalities Detection as a Tool for VEXAS Syndrome Screening.
Int J Lab Hematol
February 2025
Hematology Biology, Nantes University Hospital, Nantes, France.
Article Synopsis
- VEXAS syndrome, identified in 2020, is caused by mutations in the UBA1 gene and shows a variety of clinical and hematological features, making it challenging to distinguish from other inflammatory conditions. !* -
- This study collected a dataset of 9,514 images of polymorphonuclear cells (PMNs) and used a convolutional neural network (CNN) to automate the detection of specific dysplastic features unique to VEXAS, achieving a high level of accuracy (AUC of 0.85-0.97). !* -
- Results indicate that automated analysis can effectively support hematologists in identifying potential VEXAS cases, suggesting a screening score for UBA1 mutational
MDS-Type Morphologic Abnormalities of Peripheral Blood Granulocytes in Symptomatic COVID-19 Patients.
Int J Hematol Oncol Stem Cell Res
July 2024
Division of Laboratory Hematology and Blood Banking, Department of Medical Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
Hematological abnormalities in COVID-19 infection included quantitative and qualitative changes and should be further characterized. Evaluation for myelodysplastic syndromes (MDS) is usually prompted by abnormal hematologic findings and the presence of dysplastic morphologies. Viral infections are considered to be the cause of dysplastic morphologies and should be considered by morphologists.
View Article and Find Full Text PDFEstimate of the Deterministic Neutron RBE for Radiation-induced Pseudo-Pelger Huët Cell Formation.
Health Phys
February 2025
LMU Debusk School of Medicine, Harrogate, TN.
Using archival peripheral blood slides from radiation accident patients, we have recently described the pseudo-Pelger Huët anomaly (PPHA) in neutrophils as a new radiation-induced biomarker, useful for dosimetry not only immediately after a radiation incident but also potentially helpful as a tool in retrospective dosimetry. In conjunction with the Radiation Accident Registry at the Radiation Emergency Assistance Center/Training Site (REAC/TS), the frequency of PPHA cells has been compared from selected patients in the Y-12 criticality accident in Oak Ridge, TN, in 1958 and from the patient in the 1971 60 Co accident at the USAEC Comparative Animal Research Laboratory (CARL), also in Oak Ridge. Patients A, C, and D in the Y-12 accident are described as having an average dose of 2.
View Article and Find Full Text PDFMorphological abnormalities of leukocytes in SARS-CoV-2 infection.
Afr Health Sci
December 2023
Université d'Oran 1 Ahmed Ben Bella Faculté de Médecine, Pharmacie.
Introduction: The causative agent of COVID-19 (Coronavirus Disease 2019) is an enveloped RNA (ribonucleic acid) virus of the SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus-2) family. The effects of SARS-CoV-2 on the differentiation and maturation of blood cells have been the subject of several studies, we report our experience of an investigation of the morphologic abnormalities of leukocytes observed during COVID-19.
Patients And Methods: This is a prospective study of 5 months, from February 2021 to June 2021.
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