Idiopathic Chondrolysis of the Hip Treated by Immunosuppressive Therapy and Arthroscopic Intervention

Idiopathic chondrolysis of the hip (ICH), a very rare disorder of unknown etiology, occurs mainly in female adolescents. Characterized by pain, limp, stiffness and radiological narrowing joint space from the rapid destruction of the articular cartilage, ICH sometimes results in ankyloses. We present the case of a 10-year-old girl diagnosed with ICH based on arthroscopic inspection and synovium biopsy. The femoral deformity appeared gradually, like a cam-type femoroacetabular impingement. She was treated with intensive rehabilitation and immunosuppressive drug. We later performed an arthroscopic bumpectomy for residual symptoms. She achieved a favorable outcome as a 15-year-old at the latest follow-up

Scoliosis in Patients with Severe Cerebral Palsy: Three Different Courses in Adolescents

Patients with cerebral palsy (CP) frequently present with scoliosis; however, the pattern of curve progression is difficult to predict. We aimed to clarify the natural course of the progression of scoliosis and to identify scoliosis predictors. This was a retrospective, single-center, observational study. Total of 92 CP patients from Asahikawasou Ryouiku Iryou Center in Okayama, Japan were retrospectively analyzed. Cobb angle, presence of hip dislocation and pelvic obliquity, and Gross Motor Function Classification System (GMFCS) were investigated. Severe CP was defined as GMFCS level IV or V. The mean observation period was 10.7 years. Thirtyfour severe CP patients presented with scoliosis and were divided into 3 groups based on their clinical courses: severe, moderate and mild. The mean Cobb angles at the final follow-up were 129°, 53°, and 13° in the severe, moderate, and mild groups, respectively. The average progressions from 18 to 25 years were 2.7°/year, 0.7°/year, and 0.1°/year in the severe, moderate, and mild curve groups, respectively. We observed the natural course of scoliosis and identified 3 courses based on the Cobb angle at 15 and 18 years of age. This method of classification may help clinicians predict the patients’ disease progression

Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction

心房細動の遺伝的基盤を解明 --大規模ゲノムデータによる病態解明と遺伝的リスクスコア構築--. 京都大学プレスリリース. 2023-01-20.Atrial fibrillation (AF) is a common cardiac arrhythmia resulting in increased risk of stroke. Despite highly heritable etiology, our understanding of the genetic architecture of AF remains incomplete. Here we performed a genome-wide association study in the Japanese population comprising 9, 826 cases among 150, 272 individuals and identified East Asian-specific rare variants associated with AF. A cross-ancestry meta-analysis of >1 million individuals, including 77, 690 cases, identified 35 new susceptibility loci. Transcriptome-wide association analysis identified IL6R as a putative causal gene, suggesting the involvement of immune responses. Integrative analysis with ChIP-seq data and functional assessment using human induced pluripotent stem cell-derived cardiomyocytes demonstrated ERRg as having a key role in the transcriptional regulation of AF-associated genes. A polygenic risk score derived from the cross-ancestry meta-analysis predicted increased risks of cardiovascular and stroke mortalities and segregated individuals with cardioembolic stroke in undiagnosed AF patients. Our results provide new biological and clinical insights into AF genetics and suggest their potential for clinical applications