JOURNAL OF MEDICAL INVESTIGATION最新文献

Background: Leg length discrepancy (LLD) is a musculoskeletal condition in which leg length is asymmetric. LLD can adversely affect adjacent joints. A typical example is hip-spine syndrome. We aimed to investigate how LLD affects spinopelvic alignment and mobility, under conditions simulating LLD.

Methods: Fifty healthy adults (31 women, 19 men ; mean age 37.1 ± 8.9 years) participated in this study. A shoe lift was applied under the left foot to simulate LLD of 1, 2, 3, and 4 cm. Spinopelvic alignment while standing upright and mobility in flexion, extension, and lateral bending were measured under conditions simulating LLD using a Spinal Mouse device.

Results: Lumbar spine curvature in the frontal plane was significantly increased to the left as LLD increased. Sacral inclination angle in the frontal plane was significantly increased to the right by adding a lift. There was no significant difference in curvature of the thoracic spine in any parameters. Mobility of the lumbar spine during left lateral bending decreased as LLD increased. Inclination between T1 and S1 in the frontal plane when bending to the left decreased with increasing LLD.

Conclusion: Simulating LLD affects spinopelvic alignment and mobility in the frontal plane, but not significantly in sagittal plane. J. Med. Invest. 72 : 26-33, February, 2025.

We report a case of delayed gastric conduit emptying (DGCE) after surgery for esophageal cancer. A 67-year-old man who visited a hospital because of dysphagia and was referred for a diagnosis of esophageal cancer. Contrast-enhanced computed tomography (CT) showed wall thickening of the middle thoracic esophagus and an enlarged abdominal lymph nodes and a spiculated pulmonary shadow 25×20 mm in size in right lower lobe that was highly suspected as a primary lung cancer. Preoperative chemotherapy was introduced due to advanced esophageal cancer, both the esophageal tumor and the pulmonary lesion were found to be shrunk. Even after a detailed examination, the shadow in the right lower lobe of the lung could not be ruled out for malignancy, a simultaneous surgery was conducted. The patient underwent S10 segmentectomy followed by subtotal esophagectomy and the posterior mediastinal route reconstruction using a gastric conduit. Gastrografin radiography revealed stasis of the reconstructed gastric conduit on postoperative day (POD) 8. CT and upper gastrointestinal endoscopy showed that the gastric conduit was pulled into the right thoracic cavity caused by pulmonary resection and developed inflammatory changes, causing DGCE. The DGCE eventually improved with conservative treatment and the patient was discharged on POD 68. J. Med. Invest. 72 : 189-193, February, 2025.

Background: Interstitial lung disease (ILD) associated with connective tissue diseases (CTD-ILD) remains to be a major cause of mortality. Different from idiopathic form, CTD-ILD involves more immune dysregulation along with aberrant fibroblast activation. Therefore, therapy targeting both profibrotic and proinflammatory molecules could be ideal for CTD-ILD. Janus kinase (JAK) is a family of intracellular, non-receptor tyrosine kinases that transduce cytokine-mediated signals. The purpose of this study is to reveal the anti-fibrotic potential of JAK inhibitors (JAKis).

Methods: The anti-fibrotic effect of a JAKi with a particular focus on baricitinib was examined using a human lung fibroblast cell line and a bleomycin (BLM)-induced pulmonary fibrosis model in mice.

Results: Baricitinib, a selective JAK1, 2 inhibitor suppressed transforming growth factor-β (TGF-β)-induced phosphorylation of JAK2 in human lung fibroblasts. Baricitinib also strongly suppressed the TGF-β-induced collagen1 and α-smooth muscle actin (α-SMA) expression in fibroblasts. Moreover, baricitinib ameliorated lung fibrosis in BLM-treated mice, particularly when administered in the late phase. The number of α-SMA or collagen triple helix repeat containing 1 (CTHRC1) positive fibroblasts in BLM-treated lungs was reduced by administration of baricitinib.

Conclusions: Our data suggest that baricitinib may improve pulmonary fibrosis by directly inhibiting fibroblast activation via JAK2 blockade. J. Med. Invest. 72 : 298-307, August, 2025.

Background: Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive autoinflammatory disorder characterized by systemic vasculitis, recurrent stroke, and immunodeficiency. This results from the biallelic loss-of-function variants of ADA2, leading to enzymatic dysfunction and endothelial impairment. Although it is commonly diagnosed during childhood, adult-onset cases with milder phenotypes have also been reported.

Objective: We report a case of adult-onset ADA2 deficiency that presented with recurrent juvenile stroke and systemic vasculitis.

Case: A 42-year-old female with recurrent juvenile stroke and systemic vasculitis symptoms was diagnosed with ADA2 deficiency by genetic testing. The patient had a known pathogenic variant, c.139G>C (p.Gly47Arg), in a homozygous state. Given the mild phenotype and stable condition, the patient continued long-term aspirin therapy without additional immunosuppressive treatment.

Conclusion: This case highlights the importance of considering ADA2 deficiency in patients with unexplained stroke and recurrent vasculitis, particularly those with a history of parental consanguinity. Measurement of serum ADA activity may serve as a potential screening tool for ADA2 deficiency, especially in settings in which genetic testing is not readily available. J. Med. Invest. 72 : 430-433, August, 2025.

Sarcoidosis is a multisystemic disease that causes organ dysfunction through the formation of non-caseating granulomas. Cardiac sarcoidosis (CS) is a phenotype associated with a poor prognosis and benefits from timely diagnosis and management. A nonspecific clinical presentation and the lack of a reliable diagnostic gold standard make obtaining a definitive diagnosis challenging. Advanced cardiac imaging techniques, such as cardiac magnetic resonance imaging (CMR) and 18F-labeled fluorodeoxyglucose (18F-FDG)-positron emission tomography (PET), play an essential role in CS assessment and have been incorporated into several diagnostic guidelines. These modalities have significantly improved our knowledge and understanding of CS by contributing to risk stratification and the assessment of inflammatory and therapeutic response monitoring. The integration of hybrid imaging techniques, such as PET/CMR and PET/computed tomography (PET/CT), has also demonstrated potential in enhancing diagnostic accuracy and disease staging. Each modality offers complementary insights, and their integration through multimodal and hybrid imaging improves diagnostic confidence, disease staging, and therapy monitoring. This review synthesizes current evidence and illustrative cases to highlight the clinical utility of multimodal imaging in CS and discusses limitations and emerging tools guiding future directions. J. Med. Invest. 72 : 225-234, August, 2025.

Polycystic ovary syndrome (PCOS) is an endocrine disorder that causes infertility as well as obesity. Oxytocin (OT), a neuropeptide involved in appetite and fat metabolism, may be therapeutically beneficial for PCOS. Kamikihito (KKT), a traditional Japanese herbal medicine of Chinese origin, has been shown to up-regulate the expression of OT in the hypothalamus and exert various physiological effects. The present study investigated the anti-obesity effects of KKT in relation to OT using a PCOS model rat. Female rats were implanted with dihydrotestosterone to induce PCOS and divided into a normal food group (NF group) and food containing KKT group (KF group). After surgery, rats were fed normal food for four weeks, followed by food containing 3% KKT for another four weeks. The anti-obesity effects and impact on the ovarian morphology of KKT in PCOS were examined. KKT supplementation reduced food intake, the size of visceral adipocytes, and ovarian weight. The KF group showed increased mRNA expression levels of OT receptors (OTR) and leptin in visceral fat and slightly increased serum levels of OT and leptin. These results suggest the potential of KKT as a therapeutic agent for PCOS, potentially through effects on OT and leptin signaling pathways. J. Med. Invest. 72 : 316-323, August, 2025.

In this study, we aimed to investigate the impact of the COVID-19 pandemic on the number of pediatric inpatients and outpatients visiting medical institutions in Tokushima Prefecture, Japan. We evaluated medical claims data of individuals aged <15 years insured by the National Health Insurance. We calculated the mean and 95% confidence interval (CI) of the monthly number of inpatient and outpatient medical claims per 1,000 children for fiscal year 2019 (FY2019), the pre-pandemic period, and fiscal year 2020 (FY2020), the pandemic period. The mean monthly number of inpatients aged <15 years (per 1,000 children) was 27.6 (95% CI:24.7-30.4) in FY2019 and 16.9 (95% CI:14.9-18.9) in FY2020. For outpatients, the corresponding numbers were 638.1 (95% CI:610.6-665.6) in FY2019 and 501.1 (95% CI:471.0-531.0) in FY2020. We applied multivariable negative binomial regression to calculate incident rate ratios (IRRs). The inpatient IRR was 0.58 (95% CI:0.42-0.80), showing a significant decrease, while the outpatient IRR was 0.79 (95% CI:0.57-1.09), showing no significant difference from FY2019. These results suggest that pediatric inpatient and outpatient visits decreased during the COVID-19 pandemic, with a larger impact observed for inpatients. The pandemic likely influenced healthcare-seeking behavior and medical service utilization among children. J. Med. Invest. 72 : 401-407, August, 2025.

Background: Shoulder injury related to vaccine administration (SIRVA) has been discussed as a complication of incorrect intramuscular vaccination technique, resulting in subacromial/subdeltoid bursitis or injury of the anterior branch of the axillary or radial nerve.

Case presentation: We have encountered two cases of frozen shoulder following COVID-19 vaccination. In both cases, arthroscopic capsular release was performed after failure of conservative treatment. Arthroscopy revealed severe synovitis in the glenohumeral joint characteristic of idiopathic frozen shoulder.

Conclusions: In these two cases, the synovial inflammation was predominantly intra-articular, suggesting that the pathology of frozen shoulder secondary to SIRVA was different from that reported previously. Although the postoperative course was favorable in these two cases, early diagnosis and prompt therapeutic intervention are essential to prevent development of frozen shoulder after COVID-19 vaccination. J. Med. Invest. 72 : 459-462, August, 2025.

Background: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder (UCD) and may lead to life-threatening hyperammonemia. Refractory cases require prompt and aggressive treatment, including renal replacement therapy (RRT), to prevent irreversible neurological damage.

Case presentation: We encountered a 14-year-old girl with OTC deficiency who presented with severe hyperammonemia (649 µg/dL;382 µmol/L). Pharmacological therapy and emergency intermittent hemodialysis (IHD) were followed by continuous hemodiafiltration (CHDF), resulting in rapid ammonia clearance. However, a 4-h interruption of CHDF due to catheter replacement led to rebound hyperammonemia (>500 µg/dL;>294 µmol/L), requiring resumption of RRT on day 4. OTC deficiency was subsequently diagnosed based on plasma amino acid and urine organic acid analyses on day 12. After intensifying the pharmacological therapy and achieving stable ammonia levels, RRT was discontinued on day 17. The patient recovered without apparent neurological sequelae and was discharged from the intensive-care unit.

Conclusions: This case highlights the importance of uninterrupted RRT in managing acute hyperammonemia and suggests that even short pauses in CHDF can provoke clinically significant rebound. Early initiation of RRT, continuous monitoring of ammonia levels, and individualized treatment strategies are critical for optimizing patient outcomes. J. Med. Invest. 72 : 443-446, August, 2025.

Esophageal foreign body impaction is a common clinical issue, particularly among individuals with psychiatric disorders. Although most cases are managed successfully with endoscopic intervention, sharp or large foreign bodies can lead to serious complications. We present the case of a middle-aged man with schizophrenia who accidentally ingested a large chicken bone, resulting in esophageal impaction that required extraction under general anesthesia. This case underscores the importance of heightened clinical awareness regarding altered pain perception and disordered eating behaviors in patients with schizophrenia. J. Med. Invest. 72 : 455-458, August, 2025.