X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review.

Bronchiectasis is a chronic respiratory condition characterized by irreversible bronchial dilation, often caused by infection or inflammation. It can be associated with primary ciliary dyskinesia (PCD), a hereditary disorder affecting cilia function in various organs and flagella. PCD's genetic heterogeneity leads to varying disease severity. PCD may be more prevalent in Asia, but its diagnosis is often delayed in Japan. This study reviewed a case of PCD and retinitis pigmentosa (RP) with the relevant literature. The patient had a persistent cough, sputum, and diffuse bronchiectasis. He was diagnosed with a combination of PCD and RP, with the presence of an X-linked retinitis pigmentosa GTPase regulator (RPGR) variant confirmed through electron microscopy, retinal scan, and genetic testing. Although co-occurrence of bronchiectasis and RP is rare, PCD should be considered in cases of persistent wet cough in childhood or unidentified bronchiectasis aetiology. Ophthalmologists should consider concomitant PCD in RP patients.

Delayed visit and treatment of lung cancer during the coronavirus disease 2019 pandemic in Japan: a retrospective study.

OBJECTIVE: The impact of the coronavirus disease 2019 (COVID-19) pandemic on cancer care remains a concern. We aimed to evaluate access to diagnosis and treatment for lung cancer during the pandemic. METHODS: Times (days) from lung cancer symptom onset or referral to visit (pre-visit time), from visit to diagnosis (pre-diagnosis time), and from diagnosis to treatment (pre-treatment time) during the pandemic were compared with the times during the pre-pandemic period. RESULTS: The number of patients diagnosed with lung cancer was 82 and 75 during the pandemic and pre-pandemic periods, respectively. The percentage of patients with advanced-stage cancer was higher (65.9% vs. 46.7%), the percentage of patients treated with surgery was lower and the percentage treated with medication was higher (24.4% vs. 41.3% and 57.3% vs. 40.0%, respectively), the pre-visit time was longer (28.2 vs. 11.4 days), and the pre-treatment time for surgery was longer (67.3 vs. 45.6 days) during the pandemic compared with the times during the pre-pandemic period, respectively. CONCLUSIONS: The COVID-19 pandemic resulted in delayed diagnoses, which could have led to patients being diagnosed with advanced disease. The pandemic also resulted in delayed therapy owing to the requirement for available intensive care unit beds for emergencies, including surgery.

Non-small cell lung cancer with multiple brain metastases remains relapse-free for more than 13 years: A case report.

Brain metastasis (BM) in patients with non-small cell lung cancer (NSCLC) is usually associated with a poor prognosis. A 55-year-old Japanese man visited Tokyo Dental College Ichikawa General Hospital with complaints of motor aphasia and fatigue. Enhanced magnetic resonance imaging of the brain revealed multiple tumors. The patient's medical history included lung cancer surgery performed at another hospital 3 months prior to his visit to our hospital. Total resection of the left frontal tumor revealed BM from lung adenocarcinoma. Stereotactic radiosurgery (SRS) was performed for the remaining three BMs. At 9 months after SRS, another new BM was discovered, and SRS was again performed. More than 13 years have elapsed since the last SRS was performed, and the patient has remained relapse-free. To the best of our knowledge, this is the first case report describing a patient with NSCLC with multiple BMs who has remained relapse-free for >13 years with no neurological dysfunction, including cognitive deficit.

[A Patient with Small Cell Lung Cancer Presenting with Paralysis and Intramedullary Metastasis Successfully Treated with Chemotherapy].

A 77-year-old man was diagnosed with small cell lung cancer (SCLC: cT3N3M1b, Stage ⅣA)with bone metastases 1 year and 9 months ago. Although partial response was obtained after 6 courses of chemotherapy with carboplatin(CBDCA)and etoposide(VP-16), multiple brain metastases were observed 5 months after the completion of chemotherapy. The multiple brain metastases completely disappeared after whole brain irradiation. However, the patient experienced lower extremity weakness, predominantly in the left side, 5 months after irradiation. Contrast-enhanced magnetic resonance imaging(MRI) revealed an abnormal nodular lesion at the Th10 level, indicative of intramedullary spinal cord metastasis originating from the SCLC. After the patient was admitted to our hospital, his neurological symptoms progressed rapidly and he began to experience difficulty in standing, along with bowel and bladder dysfunction. Chemotherapy with CBDCA plus VP-16 improved the neurological symptoms, and MRI after 1 course of chemotherapy revealed a decrease in the size of the metastatic lesion in the spinal cord. Although neurological symptoms are common in patients with lung cancer, intramedullary metastases often promote irreversible neurological dysfunction. Herein, we report a patient with SCLC who developed intramedullary spinal cord metastasis and whose neurological symptoms dramatically improved after systemic chemotherapy.

[Three Cases of Small-Cell Lung Cancer with Anti-Hu Antibody-Positive Paraneoplastic Neurological Syndrome].

This case series discusses 3 male patients in their 60s who presented with a chief complaint of sensory disorder in the upper or lower limbs. The patients were diagnosed with small-cell lung cancer(SCLC)with anti-Hu antibody-positive paraneoplastic neurological syndrome(PNS). Chest radiography at the initial visit revealed abnormalities in only one of the 3 cases. To confirm the diagnosis, a bronchoscopy was performed. However, the diagnosis could be confirmed in only 1 patient. In the other 2 patients, a diagnosis could not be made due to the small size of the primary lung tumor. The diagnosis was confirmed in the other 2 cases using endobronchial ultrasound-guided transbronchial needle aspiration at another hospital. Chemoradiotherapy led to tumor reduction in 2 patients. However, in all patients, the neurological symptoms could not be resolved with steroids, immunoglobulin, or anti-tumor treatment. For neurological disorders due to possible PNS, the anti-Hu antibody test, chest computed tomography, and ultrasonic bronchoscopy should be performed to ensure early diagnosis and treatment of SCLC.

IgG4-related pleural disease in a patient with pulmonary adenocarcinoma under durvalumab treatment: a case report.

BACKGROUND: Immune checkpoint inhibitors (ICIs) are the standard treatment for non-small cell lung cancer. The unique adverse events that can arise after treatment with ICIs are known as immune-related adverse events (irAE). As the number of cases under treatment with ICIs increases, new types of characteristics of irAE have emerged. This case report suggests that IgG4-related pleural disease could occur as an irAE. CASE PRESENTATION: A 64-year-old man was diagnosed with pulmonary adenocarcinoma stage IIIB. Following concurrent chemoradiotherapy, durvalumab was administered every two weeks. The patient complained of dyspnea on effort 4 months after the initiation of durvalumab therapy. Chest CT scans showed mild bilateral pleural effusion 4 months after the initiation of durvalumab therapy, and the amount of pleural effusion increased further at 7 months. Durvalumab was thought to be a potential cause of pleural effusion and was withdrawn after 13 courses of administration over 7 months. The level of serum IgG4 was 2750 mg/dL. The levels of IgG4 of the pleural fluids were 2790 mg/dL on the right side and 2890 mg/dL on the left side at 7 months. Microscopic examination of the pleural biopsy revealed lymphoplasmacytic infiltration with storiform fibrosis. Immunohistochemical examinations showed that the number of IgG4-positive cells was > 20/high power field and the percentage of IgG4-positive to IgG-positive plasma cells was > 50%. Oral prednisolone at a dose of 30 mg/day was initiated, and remarkable clinical improvements were achieved. After 4 months of prednisolone therapy, the level of serum IgG4 decreased to 370 mg/dL and chest CT revealed the disappearance of bilateral pleural effusion. CONCLUSION: This was a case of IgG4-related pleural disease in a patient with pulmonary adenocarcinoma under durvalumab treatment. To our knowledge, this is the first case report of IgG4-related pleural disease as an irAE. It is important to consider the possibility of IgG4-related pleural disease in cases of pleural effusion during the treatment with ICIs.

Pulmonary Intravascular Large B-cell Lymphoma in a Patient Administered Methotrexate for Rheumatoid Arthritis.

A 70-year-old woman with rheumatoid arthritis undergoing methotrexate (MTX) treatment presented with dyspnea and a subfever. Computed tomography (CT) revealed a diffuse minimal ground-glass appearance in both lungs and splenomegaly. The gallium scintigram showed a diffuse, mild uptake in both lungs and the spleen. The lung biopsy specimen revealed the presence of CD20-positive atypical lymphocytes in the small pulmonary vessels. The patient was diagnosed with pulmonary intravascular diffuse large B-cell lymphoma (IVLBCL) and exhibited spontaneous regression after MTX was discontinued. This report describes a rare case of MTX-associated lymphoproliferative disorder expressing pulmonary IVLBCL.

Chewing ability and desaturation during chewing in patients with COPD.

Chewing ability is essential to maintain nutrition status and can be associated with oral conditions, sarcopenia, and lung function in patients with chronic obstructive pulmonary disease (COPD). Herein, our pilot study investigated the chewing ability and degree of desaturation during chewing in patients with COPD (n = 41) and control subjects (n = 22). Subjects chewed a color-changing chewing gum for 1 minute and chewing ability was assessed by the color of the chewed gum, which was scored from 1 (very poor) to 5 (very good). Arterial oxygen saturation (SpO2) was monitored using a pulse oximeter and the difference in SpO2 was determined by comparison between before and during chewing. The mean color score of the chewed gum was lower in the COPD group than in the control group (3.1±0.7 vs 4.2±0.9, p<0.0001). Muscle mass loss (p<0.05), <20 remaining teeth (p<0.005), and COPD (p<0.001) were risk factors for poor chewing ability. The mean SpO2 decreased by 0.78±1.46% during gum chewing for 1 min. The mean SpO2 during gum chewing (95.1±2.4%) was lower than before gum chewing (95.9±1.7%) (p<0.05). The reduction of SpO2 was greater in COPD patients who had fewer remaining teeth (p<0.05). COPD patients with SpO2 reduction >4% during the 6-minute walk test showed greater reduction during gum chewing (p<0.05). Our results suggest that COPD patients with fewer remaining teeth exhibit poor chewing ability and greater desaturation during chewing.

Abscopal effect of radiation on multiple lung metastases of lung adenocarcinoma: a case report.

BACKGROUND: Abscopal effect is the out-of-field response to localized irradiation therapy that results in systemic antitumorigenic effects such as the regression of a tumor distant from the target site. CASE PRESENTATION: A 76-year-old woman was diagnosed with pulmonary adenocarcinoma (cT1bN0M0 stage IA), and right upper lobectomy was performed in November 2015. The pathological stage was pT1bN2M0 stage IIIA. Genomic analysis revealed an EGFR mutation. Immunohistochemical analysis revealed a programmed death-ligand 1 tumor proportion score of < 1%. The patient was under watchful observation without adjuvant chemotherapy. Multiple mediastinal and right hilar lymph node metastases were found in February 2018. Radiation therapy at a total dose of 60.0 Gy distributed in 30 fractions was performed over a period of 6 weeks. A computed tomography (CT) scan performed 6 weeks after irradiation therapy showed a reduction in lymph node metastases. However, left hilar and right supraclavicular lymph node metastases and multiple pulmonary metastases were newly observed outside of the irradiation field. A CT scan performed 6 weeks later showed a dramatic complete disappearance of the previously observed pulmonary metastases. No chemotherapy was administered during the period. CONCLUSION: This was a case of abscopal effect: irradiation of the mediastinum resulted in the disappearance of multiple pulmonary metastases in both lungs.

A case report of metastatic lung adenocarcinoma with long-term survival for over 11 years.

RATIONALE: This is the first known report in the English literature to describe a case of metastatic non-small cell lung cancer that has been controlled for >11 years. PATIENT CONCERNS: A 71-year-old man visited our hospital because of dry cough. DIAGNOSIS: Chest computed tomography revealed a tumor on the left lower lobe with pleural effusion, and thoracic puncture cytology indicated lung adenocarcinoma. INTERVENTIONS: Four cycles of carboplatin and docetaxel chemotherapy reduced the size of the tumor; however, it increased in size after 8 months, and re-challenge chemotherapy (RC) with the same drugs was performed. Repeated RC controlled disease activity for 6 years. After the patient failed to respond to RC, erlotinib was administered for 3 years while repeating a treatment holiday to reduce side effects. The disease progressed, and epidermal growth factor receptor (EGFR) gene mutation analysis of cells from the pleural effusion detected the T790 M mutation. Therefore, osimertinib was administered, which has been effective for >1 year. OUTCOMES: The patient has survived for >11 years since the diagnosis of lung cancer. LESSONS: Long-term survival may be implemented by actively repeating cytotoxic chemotherapy and EGFR-tyrosine kinase inhibitor administration.

A case of pulmonary adenocarcinoma showing rapid progression of peritoneal dissemination after immune checkpoint inhibitor therapy.

BACKGROUND: Immune checkpoint inhibitors are standard treatments for non-small cell lung cancer. Unique cases with paradoxical acceleration of the disease after immunotherapy have been reported. These have been described as cases of hyperprogressive disease. CASE PRESENTATION: A 76-year-old man was diagnosed with pulmonary adenocarcinoma with pleural dissemination and liver and adrenal metastases. Genomic analysis revealed neither EGFR mutations nor ALK translocations. Immunohistochemical analysis revealed a programmed death-ligand 1 tumor proportion score of 23%. Chemotherapy with carboplatin, paclitaxel, and bevacizumab resulted in Grade 3 skin eruption and disease progression. Pembrolizumab was initiated as a second-line treatment. However, peritoneal dissemination and ascites developed. The patient died 2 weeks later. The autopsy revealed widespread peritoneal dissemination and an extensive hemorrhagic infarction. CONCLUSION: This was a rare case of hyperprogressive disease with rapid progression of peritoneal dissemination after pembrolizumab treatment.

A case of allergic bronchopulmonary aspergillosis successfully treated with mepolizumab.

BACKGROUND: Allergic bronchopulmonary aspergillosis (ABPA) is an allergic pulmonary disease comprising a complex hypersensitivity reaction to Aspergillus fumigatus. Clinical features of ABPA are wheezing, mucoid impaction, and pulmonary infiltrates. Oral corticosteroids and anti-fungal agents are standard therapy for ABPA, but long-term use of systemic corticosteroids often causes serious side effects. CASE PRESENTATION: A 64-year-old woman was diagnosed with ABPA based on a history of bronchial asthma (from 40 years of age), elevated total IgE, the presence of serum precipitating antibodies and elevated specific IgE antibody to A. fumigatus, and pulmonary infiltration. Bronchoscopy showed eosinophilic mucoid impaction. Systemic corticosteroid therapy was initiated, and her symptoms disappeared. Peripheral eosinophilia and pulmonary infiltration recurred five months after cessation of corticosteroid treatment. Systemic corticosteroids were re-initiated and itraconazole was added as an anti-fungal agent. The patient was free of corticosteroids, aside from treatment with a short course of systemic corticosteroids for asthma exacerbation, and clinically stable with itraconazole and asthma treatments for 3 years. In 2017, she experienced significant deterioration. Laboratory examination revealed marked eosinophilia (3017/µL) and a chest computed tomography (CT) scan demonstrated pulmonary infiltration in the left upper lobe and mucoid impaction in both lower lobes. The patient was treated with high-dose inhaled corticosteroid/long-acting beta-agonist, a long-acting muscarinic antagonist, a leukotriene receptor antagonist, and theophylline; spirometry revealed a forced expiratory volume in 1 s (FEV1) of 1.01 L. An uncontrolled asthma state was indicated by an Asthma Control Test (ACT) score of 18. Mepolizumab, 100 mg every 4 weeks, was initiated for the treatment of severe bronchial asthma with ABPA exacerbation. Bronchial asthma symptoms dramatically improved, and ACT score increased to 24, by 4 weeks after mepolizumab treatment. Peripheral eosinophil count decreased to 174/µL. Spirometry revealed improvement of lung function (FEV1: 1.28 L). A chest CT scan demonstrated the disappearance of pulmonary infiltration and mucoid impaction. CONCLUSIONS: To our knowledge, this is the first case of ABPA to be treated with mepolizumab. Dramatic improvements were observed in symptoms, lung function, peripheral eosinophil counts, and chest images. Mepolizumab could serve as an alternative treatment with the potential to provide a systemic corticosteroid-sparing effect.

A Case of Influenza B and Mycoplasma pneumoniae Coinfection in an Adult.

A 19-year-old woman was referred to our hospital because of a persistent fever and cough that lasted for over a week. Influenza B virus infection was diagnosed using the rapid test kit. Initially, the patient was diagnosed with influenza B infection associated with lobar pneumonia and treated with an anti-influenza virus drug and sulbactam/ampicillin. The patient's fever persisted, and her respiratory condition worsened. On day 5, a computed tomography (CT) scan revealed an extension of the consolidation areas in the left lung and new opacities in the right lung. The antibiotic treatment was changed to meropenem and levofloxacin, and the patient's physical condition gradually improved. A sputum sample revealed the presence of Mycoplasma pneumoniae-specific DNA. Both influenza B virus and M. pneumoniae infections were confirmed serologically. This was a case of coinfection with influenza B virus and M. pneumoniae in a healthy young woman. The M. pneumoniae pneumonia diagnosis was delayed because the predominant feature observed in the CT scan was dense consolidation. M. pneumoniae should be considered as one of the causative pathogens in influenza coinfection cases with CT scan images presenting dense consolidation.

The association between dental health and nutritional status in chronic obstructive pulmonary disease.

Chronic obstructive pulmonary disease (COPD) and periodontitis are chronic inflammatory systemic diseases with common risk factors (smoking and aging). In COPD, poor periodontal health could result in inadequate nutrition, potentially causing loss of muscle volume. The purpose of this case-control study was to examine our hypothesis that COPD patients have poorer periodontal health and poorer nutritional status than non-COPD patients. Periodontal status was assessed using bleeding on probing (BOP), pocket depth (PD), and plaque-control ratio (PCR). Nutritional status was assessed using body mass index, lean body mass, and serum albumin levels. The COPD group ( n = 60) had fewer remaining teeth, greater BOP, greater PD, and lower serum albumin levels compared with smokers without COPD ( n = 41) and nonsmokers ( n = 35; p < 0.001). COPD was an independent risk factor for poor periodontal health, demonstrated by fewer remaining teeth (relative risk (RR), 5.48; p = 0.0024), BOP (RR, 12.8; p = 0.0009), and having >30% of remaining teeth with a PD ≥ 4 mm (RR, 4.82; p = 0.011). A significant negative correlation existed between the number of teeth with a PD ≥ 4 mm and serum albumin level ( r2 = 0.127; p = 0.013). We demonstrated that poor periodontal health was associated with hypoalbuminemia, suggesting poor nutritional status and inflammation in COPD.

[A Case of Small Cell Lung Cancer Treated with Concurrent Chemoradiotherapy with Carboplatin plus Etoposide in a Hemodialysis Patient].

In recent years, many patients have had to undergo hemodialysis due to chronic renal failure. In addition, the number of hemodialysis patients in whom lung cancer is discovered is increasing. However, a standard chemoradiotherapy regimen for limited-disease small-cell lung cancer patients undergoing maintenance hemodialysis has not yet been established. We administered concurrent chemoradiotherapy using carboplatin 300 mg/m2 (day 1) plus etoposide 50 mg/m2 (day 1, 3). A partial response was achieved after 4 courses of chemotherapy and 68 Gy of radiotherapy. The major toxicities were hematological toxicities; they included grade 4 thrombocytopenia, grade 3 anemia, and neutropenia.