Acta medica Okayama最新文献

GNAO1 variant affects primarily the brain and neurodevelopment, leading to a range of motor disorders including seizures beginning in infancy and involuntary movements such as dyskinesia and dystonia. Our patient, a 15-year-old Japanese female, began exhibiting involuntary movements at age 4. A de novo missense mutation (NM_020988.3: c.228C>G, NP_066268.1: p.(Asn76Lys)) in the GNAO1 gene was identified when the patient was 15, and during the same year she developed influenza pneumonia, accompanied by dystonic storm. She required intensive care with mechanical ventilation and underwent a tracheostomy. She also developed posterior reversible encephalopathy syndrome. Globus pallidal stimulation was administered, leading to an improvement in the dystonic storm. Early consideration of globus pallidal stimulation is recommended when treating difficult-to-manage dystonic storms.

Pneumonic-type adenocarcinoma (P-ADC) can closely mimic pneumonia. We report a P-ADC initially diagnosed as pneumonia which developed into a pulmonary abscess and empyema. A 50-year-old Japanese male diagnosed with pneumonia, pulmonary abscess, and empyema was administered antibiotics and a chest tube for drainage, which improved his symptoms and blood test results. However, chest computed tomography showed an enlarged infiltrative shadow. The patient underwent bronchoscopy and was diagnosed with an adenocarcinoma. This case highlights the importance of considering P-ADC in differential diagnoses when a pneumonia-like shadow enlarges post-empyema treatment. Diagnostic and clinical tests, e.g., bronchoscopy, should be performed in such cases.

Cervical spondylotic myelopathy (CSM) and ossification of the posterior longitudinal ligament (OPLL) increase the likelihood of spinal cord injury without radiographic evidence of trauma (SCIWORET). Opinions regarding the optimal timing for surgery in such cases vary, however. We retrospectively investigated the demographics and outcomes of patients with SCIWORET who underwent surgery shortly after experiencing rapid neurological deterioration, and we matched patients who underwent standby surgery for CSM or OPLL. Although the optimal timing of surgery for SCIWORET remains unclear, our findings suggest that early stage surgery for SCIWORET may yield favorable neurological improvements.

We investigated the work productivity levels of employed cancer survivors and non-cancer-survivor workers by conducting a cross-sectional study in Japan between February and March 2019, using an online survey. A total of 561 employed individuals aged 20-64 years were analyzed. Work productivity was assessed using the Work Productivity and Activity Impairment-General Health questionnaire which evaluates absenteeism, presenteeism, and overall work productivity loss. The questionnaire responses demonstrated that the cancer survivors within 1 year of diagnosis had significantly higher absenteeism compared to the non-cancer workers (p=0.048). Although presenteeism and overall work productivity loss were also higher in the non-cancer-survivor group, the differences were not significant. Cancer survivors within 1 year of diagnosis exhibited higher absenteeism, but their work productivity appeared to recover to levels comparable to those of the non-cancer workers over time. These findings may contribute to workplace policies supporting cancer survivors' return to work.

Pulmonary cement embolism (PCE) is a rare but severe complication following percutaneous vertebroplasty (PVP). Calcium phosphate cement (CPC) has emerged as an alternative to traditional materials for vertebral augmentation. There appear to be no established guidelines for managing symptomatic PCE, and there is scarce literature on CPC embolisms. This is a first report of a case of pulmonary CPC embolism following PVP. The patient, a 63-year-old Chinese female, was administered anticoagulant treatment and achieved a satisfactory outcome. Her case highlights the severe potential morbidity associated with CPC leakage and emphasizes the efficacy of anticoagulant treatment for managing pulmonary CPC embolisms.

A 38-year-old man was brought to the hospital for emergency treatment of cyanosis. The patient exhibited generalized cyanosis and impaired consciousness despite adequate oxygen therapy. Arterial blood was black, and arterial blood gas analysis revealed an abnormally high methemoglobin level of 67.8%. We later interviewed his colleagues regarding his exposure to aniline while working at the factory and diagnosed him with methemoglobinemia due to aniline poisoning. The patient was administered methylene blue (MB) after being transferred to another hospital, where this treatment was available, resulting in an improvement in symptoms. Although rare, methemoglobinemia is serious. A good understanding of the circumstances at disease onset, characteristic findings, and abnormal values of methemoglobinemia is important. In addition, MB is an important therapeutic for the treatment of methemoglobinemia; if MB is not available at a particular hospital, transfer of the patient to a hospital that stocks MB should be considered.

Perigraft seroma, a sterile fluid accumulation around the graft, is a potential complication after thoracic aortic surgery. The optimal treatment strategy for a perigraft seroma with vascular compression after thoracic aortic surgery has been unclear. We describe the case of a 62-year-old Japanese male in whom an asymptomatic perigraft seroma was observed after he had undergone aortic root replacement for annulo-aortic ectasia. The seroma was successfully treated with thoracoscopic drainage and conservative therapy. Less invasive therapy, including conservative therapy, may also be an option for asymptomatic perigraft seromas observed after thoracic aortic surgery.

Pathogens or their components can induce long-lasting changes in the behavior of innate immune cells, a process analogous to "training" for future threats or environmental adaptation. However, such training can sometimes have unintended consequences, such as the development of autoimmunity. Systemic lupus erythematosus (SLE) is a chronic and heterogeneous autoimmune disease characterized by the production of autoantibodies and progressive organ damage. Innate immunity plays a central role in its pathogenesis, contributing through impaired clearance of apoptotic cells, excessive type I interferon production, and dysregulated formation of neutrophil extracellular traps. Recent studies have revealed that metabolites and nucleic acids derived from mitochondria, a crucial energy production site, directly regulate type I interferon and anti-inflammatory cytokine production. These insights have fueled interest in targeting metabolic pathways as a novel therapeutic approach for SLE, offering promise for improving long-term patient outcomes.

The position attained in total hip arthroplasty (THA) is ideally in the center of the horizontal plane of the acetabulum. However, central placement is not always possible. We hypothesized that differences in approach result in individual differences in cup positioning; thus, we investigated the cup positions of 217 hips that underwent THA. The acetabulum's anteroposterior diameter was measured, and the cups placed within 2 mm of the line perpendicular to the center as a central placement (central). Of the 217 hips, 68, 114, and 35 hips were anterior, central, and posterior, respectively. In 21 hips, anteroposterior deviation was noted. Among patients operated using the anterolateral approach, 48, 93, and 30 hips were anterior, central, and posterior, respectively. Among those operated using the posterolateral approach, 16, 20, and 4 hips were anterior, central, and posterior, respectively. The cup position shifted either anteriorly or posteriorly to the acetabulum in approximately half of all hips operated using both approaches and tended to shift anteriorly in the hips operated using the posterolateral approach. During THA surgery, it is important to operate with awareness of the center of the acetabulum.

Chondrocytes are responsible for the production of extracellular matrix (ECM) components such as collagen type II alpha-1 (COL2A1) and aggrecan, which are loosely distributed in articular cartilage. Chondrocyte dysfunction has been implicated in the pathogenesis of rheumatic diseases such as osteoarthritis (OA) and rheumatoid arthritis (RA). With age, advanced glycation end products (AGEs) accumulate in all tissues and body fluids, including cartilage and synovial fluid, causing and accelerating pathological changes associated with chronic diseases such as OA. Glycolaldehyde-derived AGE (AGE3), which is toxic to a variety of cell types, have a stronger effect on cartilage compared with other AGEs. To understand the long-term effects of AGE3 on cartilage, we stimulated a human chondrosarcoma cell line (OUMS-27), which exhibits a chondrocytic phenotype, with 10 μg/ml AGE3 for 4 weeks. As a result, the expressions of COL2A1 and aggrecan were significantly downregulated in the OUMS-27 cells without inducing cell death, but the expressions of proteases that play an important role in cartilage destruction were not affected. Inhibition of the receptor for advanced glycation end products (RAGE) suppressed the AGE3-induced reduction in cartilage component production, suggesting the involvement of RAGE in the action of AGE3.