Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.

Background: Chromosomal alterations serve as diagnostic and prognostic markers in acute leukemia. Given the evolving landscape of chromosomal abnormalities in acute leukemia, we previously studied these over two periods. In this study, we investigated the frequency of these abnormalities and clinical trends in acute leukemia in Korea across three time periods. Methods: We retrospectively analyzed data from 1,787 patients with acute leukemia (319 children and 1,468 adults) diagnosed between 2006 and 2020. Conventional cytogenetics, FISH, and multiplex quantitative PCR were used for analysis. The patient groups were divided according to the following three study periods: 2006–2009 (I), 2010–2015 (II), and 2016–2020 (III). Results: Chromosomal aberrations were detected in 92% of patients. The PML::RARA translocation was the most frequent. Over the 15-yr period, chromosomal aberrations showed minimal changes, with specific fusion transcripts being common among patients.ALL was more prevalent in children than in adults and correlated significantly with the ETV6::RUNX1 and RUNX1::RUNX1T1 aberrations. The incidence of ALL increased during the three periods, with PML::RARA remaining common. Conclusions The frequency of chromosomal abnormalities in acute leukemia has changed subtly over time. Notably, the age of onset of adult AML has continuously increased. Our results may help in establishing diagnoses and clinical treatment strategies and developing various molecular diagnostic platforms.

We report a case of complete remission in anaplastic oligodendroglioma following adoptive cell therapy (ACT) with autologous Wilms tumor 1 (WT-1)-specific CD8+ T cells. A 40-year-old woman referred to our hospital for adjuvant chemotherapy after recurrent anaplastic oligodendroglioma initially presented with a left frontal tumor, diagnosed through seizure onset, and subtotal resection confirmed oligodendroglioma (WHO grade 2). Radiation therapy treated the residual tumor, achieving partial remission until recurrence 2.5 years later when malignant transformation to anaplastic oligodendroglioma (WHO grade 3) occurred following a second craniotomy. After three cycles of procarbazine, lomustine, and vincristine chemotherapy, the residual tumor stabilized for 3 years. However, follow-up MRI identified a new enhancing lesion, prompting a third craniotomy. Recurrent anaplastic oligodendroglioma was confirmed, and adjuvant proton beam therapy and temozolomide chemotherapy were initiated. Two years later, another enhancing lesion appeared on the adjacent medial frontal lobe. Following multidisciplinary review, we introduced WT-1-specific ACT. Although transient swelling was observed 1 month post-therapy, the tumor demonstrated a response within 3–9 months. Continued regression led to complete remission—confirmed via MRI at the 15-month follow-up and sustained for 4.7 years. The patient’s peripheral blood monocyte profiles and immune-associated cytokine analysis indicated T-cell activation following WT-1 sensitization.

We report a case of complete remission in anaplastic oligodendroglioma following adoptive cell therapy (ACT) with autologous Wilms tumor 1 (WT-1)-specific CD8+ T cells. A 40-year-old woman referred to our hospital for adjuvant chemotherapy after recurrent anaplastic oligodendroglioma initially presented with a left frontal tumor, diagnosed through seizure onset, and subtotal resection confirmed oligodendroglioma (WHO grade 2). Radiation therapy treated the residual tumor, achieving partial remission until recurrence 2.5 years later when malignant transformation to anaplastic oligodendroglioma (WHO grade 3) occurred following a second craniotomy. After three cycles of procarbazine, lomustine, and vincristine chemotherapy, the residual tumor stabilized for 3 years. However, follow-up MRI identified a new enhancing lesion, prompting a third craniotomy. Recurrent anaplastic oligodendroglioma was confirmed, and adjuvant proton beam therapy and temozolomide chemotherapy were initiated. Two years later, another enhancing lesion appeared on the adjacent medial frontal lobe. Following multidisciplinary review, we introduced WT-1-specific ACT. Although transient swelling was observed 1 month post-therapy, the tumor demonstrated a response within 3–9 months. Continued regression led to complete remission—confirmed via MRI at the 15-month follow-up and sustained for 4.7 years. The patient’s peripheral blood monocyte profiles and immune-associated cytokine analysis indicated T-cell activation following WT-1 sensitization.

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.

We report a case of complete remission in anaplastic oligodendroglioma following adoptive cell therapy (ACT) with autologous Wilms tumor 1 (WT-1)-specific CD8+ T cells. A 40-year-old woman referred to our hospital for adjuvant chemotherapy after recurrent anaplastic oligodendroglioma initially presented with a left frontal tumor, diagnosed through seizure onset, and subtotal resection confirmed oligodendroglioma (WHO grade 2). Radiation therapy treated the residual tumor, achieving partial remission until recurrence 2.5 years later when malignant transformation to anaplastic oligodendroglioma (WHO grade 3) occurred following a second craniotomy. After three cycles of procarbazine, lomustine, and vincristine chemotherapy, the residual tumor stabilized for 3 years. However, follow-up MRI identified a new enhancing lesion, prompting a third craniotomy. Recurrent anaplastic oligodendroglioma was confirmed, and adjuvant proton beam therapy and temozolomide chemotherapy were initiated. Two years later, another enhancing lesion appeared on the adjacent medial frontal lobe. Following multidisciplinary review, we introduced WT-1-specific ACT. Although transient swelling was observed 1 month post-therapy, the tumor demonstrated a response within 3–9 months. Continued regression led to complete remission—confirmed via MRI at the 15-month follow-up and sustained for 4.7 years. The patient’s peripheral blood monocyte profiles and immune-associated cytokine analysis indicated T-cell activation following WT-1 sensitization.

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.

Purpose: To report two cases of myotonic dystrophy type 1 presenting with binocular horizontal diplopia as an initial symptom.Case summary: The first patient was a 49-year-old woman with a one-month history of diplopia. Examination revealed mild nuclear cataracts and exotropia of 16 prism diopters (PD) at distance and 30 PD at near, without gaze limitation. Neurologic assessment showed distal-dominant weakness, generalized atrophy, and myotonia. The second patient was a 50-year-old woman with a 10-year history of diplopia. Examination showed bilateral cataracts, retinal pigment epithelium depigmentation, and exotropia of 20 PD at distance and 30 PD at near, notably accompanied by limitation of movement in all directions. She exhibited proximal weakness, grip myotonia, and a positive family history. Genetic analysis confirmed more than 90 CTG repeats in the DMPK gene, confirming the diagnosis of myotonic dystrophy type 1 in both patients. Conclusions Clinicians should include myotonic dystrophy type 1 in the differential diagnosis of unexplained diplopia and perform thorough neurologic and genetic evaluations.

Background: Delirium is a recognized neurological complication following cardiac surgery and is associated with adverse clinical outcomes, including elevated mortality and prolonged hospitalization. While several clinical risk factors for post-cardiac surgery delirium have been identified, the pathophysiology related to the immune response remains unexamined. This study was conducted to investigate the immunological factors contributing to delirium in patients after thoracic aortic surgery. Methods: We retrospectively evaluated 43 consecutive patients who underwent thoracic aortic surgery between July 2017 and June 2018. These patients were categorized into 2 groups: those with delirium and those without it. All clinical characteristics were compared between groups. Blood samples were collected and tested on the day of admission, as well as on postoperative days 1, 3, 7, and 30. Levels of helper T cells (CD4), cytotoxic T cells (CD8), B cells (CD19), natural killer cells (CD56+CD16++), and monocytes (CD14+CD16−) were measured using flow cytometry. Results: The median patient age was 71 years (interquartile range, 56.7 to 79.0 years), and 21 of the patients (48.8%) were male. Preoperatively, most immune cell counts did not differ significantly between groups. However, the patients with delirium exhibited significantly higher levels of interleukin-6 and lower levels of tumor necrosis factor-alpha (TNF-α) than those without delirium (p<0.05). Multivariate analysis revealed that lower TNF-α levels were associated with an increased risk of postoperative delirium (p<0.05). Conclusion Postoperative delirium may be linked to perioperative changes in immune cells and preoperative cytokine levels. Additional research is required to elucidate the pathophysiological mechanisms underlying delirium.

Background: Chronic cough is a common symptom encountered by healthcare practitioners.The global prevalence of chronic cough is 9.6%, with a female predominance. The aim of our study is to reveal the sex differences in prevalence and severity of chronic cough in South Korea, stratified by age and etiology. Methods: This study included adult patients with chronic cough who were recruited from 19 respiratory centers in South Korea. Patients completed the cough numeric rating scale (NRS) and COugh Assessment Test (COAT) questionnaire to assess the severity and multidimensional impact of cough. Results: Among the 625 patients, 419 (67.0%) were females, with a male-to-female ratio of 1:2.03. The mean age was 49.4 years, and the median duration of cough was 12 weeks. The mean NRS and COAT scores were 5.5 ± 1.8 and 9.5 ± 3.6, respectively. Female patients were older (45.3 ± 15.4 vs. 51.6 ± 15.2, P < 0.001) and more likely to have asthma/cough variant asthma (CVA) (26.7% vs. 40.8%, P = 0.001) than male patients. There was no difference in the duration or severity of cough between sexes, regardless of the cause. The male-tofemale ratio was lower for upper airway cough syndrome (UACS), asthma/CVA, and gastroesophageal reflux disease (GERD), but not for eosinophilic bronchitis (EB) or unexplained cough. The mean age of female patients was higher in UACS and asthma/CVA, but not in EB, GERD, or unexplained cough. The majority (24.2%) fell within the age category of 50s. The proportion of females with cough increased with age, with a significant rise in the 50s, 60s, and 70–89 age groups. The severity of cough decreased in the 50s, 60s, and 70–89 age groups, with no significant sex differences within the same age group. Conclusion The sex disparities in prevalence and severity of cough varied significantly depending on the age category and etiology. Understanding the specific sex-based difference could enhance comprehension of cough-related pathophysiology and treatment strategies.