Introduction: Ischemia in extra-lobar pulmonary sequestration is rare and mostly occurs in childhood; it is uncommon in adults but can be progressive, necessitating surgical removal.
Case Presentation: A 37-year-old woman experienced sudden onset severe back pain and was initially diagnosed with pneumonia. Computed tomography revealed a 4.
A 70' woman presented to our hospital complaining of a weight loss and loss of appetite. She was diagnosed with advanced sigmoid colon cancer by colonoscopy, and CT scan showed that the tumor had invaded the bladder and left ovary, and showed enlarged para-aortic lymph nodes. The tumor was large, and it was determined that a total cystectomy was necessary for radical resection, it was decided to perform pre-operative chemotherapy.
View Article and Find Full Text PDFBackground: The mainstay of treatment for soft-tissue sarcomas is complete resection with negative surgical margins. However, treatment strategies for local control including the frequency of adjuvant radiotherapy (RT) and surgical margin differ greatly between Japan and other countries, and the optimal strategy of local control remains controversial.
Methods: A total of 70 patients with high-grade sarcoma who underwent surgery of the 72 patients enrolled in JCOG0304, were included.
Background: Quality of life (QOL) is reduced in patients with atrial fibrillation (AF). However, data regarding the association between sleep quality, one of the major components of QOL, and AF are insufficient. This cross-sectional study aimed to elucidate whether sleep quality is reduced in patients with AF.
View Article and Find Full Text PDFConcurrent mutations in tumor protein p53 (TP53) or Kelch-like ECH-associated protein 1-nuclear factor erythroid 2-related factor 2-pathway components are linked to poor outcomes in epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer (NSCLC), but the impact of triple mutations remains unclear. We report a case of EGFR-, TP53-, and Cullin 3 (CUL3)-mutant NSCLC in a 43-year-old woman with widespread metastases at diagnosis, including those in the contralateral lung, distant lymph nodes, pericardium, liver, bones, left adrenal gland, and brain. She received osimertinib as first-line therapy, but pericardial effusion and liver metastases progressed rapidly over 3 months, and she was switched to carboplatin and pemetrexed.
View Article and Find Full Text PDFAlternative splicing contributes to complex traits, but whether this differs in trait-relevant cell types across diverse genetic ancestries is unclear. Here we describe cell-type-specific, sex-biased and ancestry-biased alternative splicing in ~1 M peripheral blood mononuclear cells from 474 healthy donors from the Asian Immune Diversity Atlas. We identify widespread sex-biased and ancestry-biased differential splicing, most of which is cell-type-specific.
View Article and Find Full Text PDFDespite antiretroviral therapy (ART), HIV persists in latently-infected cells (the HIV reservoir) which decay slowly over time. Here, leveraging >500 longitudinal samples from 67 people living with HIV (PLWH) treated during acute infection, we developed a mathematical model to predict reservoir decay from peripheral CD4 + T cells. Nonlinear generalized additive models demonstrated rapid biphasic decay of intact DNA (week 0-5: t ~ 2.
View Article and Find Full Text PDFBackground: is a negative regulator of T cell activation and one of the key activators of type I interferon (IFN) and NFκB signaling via non-classical pathways. The upstream single nucleotide polymorphism of (rs2297550-G) is a genome-wide association study risk variant of systemic lupus erythematosus, and is associated with decreased expression in T cells by expression quantitative trait locus analysis.
Case Presentation: A 48-year-old female had a remittent fever, arthritis, and oral ulcers for 20 years.
An anomalous systemic arterial supply to the basal segment of the lung (ABLL) is a rare congenital vascular anomaly. We herein report a case of ABLL in a 26-year-old pregnant woman with hemoptysis. Contrast-enhanced chest computed tomography (CT) revealed an abnormal vessel branching directly from the descending aorta and circulating to the left lower lobe while showing a normal bronchial anatomy.
View Article and Find Full Text PDFBackground: Nontuberculous mycobacterial pulmonary disease (NTM-PD) varies widely in clinical presentation, and some patients experience hemoptysis. Bronchial artery embolization (BAE) is a treatment option for hemoptysis caused by NTM-PD. However, the association between post-BAE rebleeding risk and the presence of cavitary lesions has not been fully elucidated.
View Article and Find Full Text PDFMagnetic resonance spectroscopy (MRS) is a non-invasive imaging technique that facilitates the observation of tissue metabolism. It holds potential not only in research but also in clinical settings for understanding pathophysiology. This report presents the case of a 73-year-old woman with cerebellar arteriovenous malformation (AVM) in which MRS contributed to understanding the condition.
View Article and Find Full Text PDFBackground: Current strategies that target cytokines (e.g., tumor necrosis factor (TNF)-α), or signaling molecules (e.
View Article and Find Full Text PDFAlternative splicing events are a major causal mechanism for complex traits, but they have been understudied due to the limitation of short-read sequencing. Here, we generate a full-length isoform annotation of human immune cells from an individual by long-read sequencing for 29 cell subsets. This contains a number of unannotated transcripts and isoforms such as a read-through transcript of TOMM40-APOE in the Alzheimer's disease locus.
View Article and Find Full Text PDFChiari III malformation, a rare and severe subtype of Chiari malformations, is frequently associated with hydrocephalus. The conventional treatment approaches for hydrocephalus in Chiari III malformations have mainly focused on ventriculoperitoneal (VP) shunting, but optimal methods and timing remain uncertain. We report a case of a newborn girl with Chiari III malformation who underwent surgical closure of an occipitocervical encephalocele and ventricular reservoir implantation on her third day of life.
View Article and Find Full Text PDFDespite antiretroviral therapy (ART), HIV persists in latently-infected cells ("the reservoir") which decay slowly over time. Here, leveraging >500 longitudinal samples from 67 people with HIV (PWH) treated during acute infection, we developed a novel mathematical model to predict reservoir decay from peripheral CD4+ T cells. Nonlinear generalized additive models demonstrated rapid biphasic decay of intact DNA (week 0-5: t~2.
View Article and Find Full Text PDFAging is a significant risk factor for autoimmunity, and many autoimmune diseases tend to onset during adulthood. We conducted an extensive analysis of CD4 T cell subsets from 354 patients with autoimmune disease and healthy controls via flow cytometry and bulk RNA sequencing. As a result, we identified a distinct CXCR3CD4 effector memory T cell subset that expands with age, which we designated "age-associated T helper (TA) cells.
View Article and Find Full Text PDFObjectives: Despite the involvement of B cells in the pathogenesis of immune-mediated diseases (IMDs), biological mechanisms underlying their function are scarcely understood. To overcome this gap, here we constructed and investigated a large-scale repertoire catalogue of five B cell subsets of patients with IMDs.
Methods: We mapped B cell receptor regions from RNA sequencing data of sorted B cell subsets.
A multilocular thymic cyst (MTC) is a rare mediastinal tumor with multiloculated cyst-like structures in the anterior mediastinum. This tumfor is associated with inflammatory diseases, including human immunodeficiency virus (HIV) infection. The present study reports a case of MTC detected during coronavirus disease 2019 (COVID-19) treatment in an adult who was tested HIV positive.
View Article and Find Full Text PDFA 41-year-old man presented with chronic cough and chest pain. Laboratory tests revealed anemia, inflammation, hypoalbuminemia, polyclonal hypergammaglobulinemia, and elevated interleukin-6 levels. Computed tomography revealed diffuse bilateral pulmonary nodules and multicentric lymphadenopathy.
View Article and Find Full Text PDFBackground: An arteriovenous fistula (AVF) at the craniocervical junction (CCJ) is a rare vascular malformation. Definitive diagnosis and curative treatment of CCJ AVF are challenging.
Case Description: A 77-year-old man presented with subarachnoid hemorrhage.
Objectives: Little is known about the immunology underlying variable treatment response in rheumatoid arthritis (RA). We performed large-scale transcriptome analyses of peripheral blood immune cell subsets to identify immune cells that predict treatment resistance.
Methods: We isolated 18 peripheral blood immune cell subsets of 55 patients with RA requiring addition of new treatment and 39 healthy controls, and performed RNA sequencing.
Objective: Idiopathic inflammatory myopathies (IIM) demonstrate characteristic clinical phenotypes depending on the myositis-specific antibody (MSAs) present. We aimed to identify common or MSA-specific immunological pathways in different immune cell types from peripheral blood by transcriptome analysis.
Methods: We recruited 33 patients with IIM who were separated into the following groups: 15 patients with active disease at onset and 18 with inactive disease under treatment.