Purpose: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population. Methods: Among individuals who underwent genetic testing at a pediatric neurology clinic between June 2011 and December 2021, 15 patients with tubulin gene variants were retrospectively recruited. Clinical features, genetic information, and brain imaging findings were retrospectively reviewed. Results: The genetic spectra of the patients included TUBA1A (n=5, 33.3%), TUBB4A (n=6, 40.0%), TUBB3 (n=2, 13.3%), TUBB (n=1, 6.7%), and TUBB2A (n=1, 6.7%) variants. Two novel mutations were identified: a c.497A>G; p.(Lys166Arg) variant in TUBA1A and a c.907G>C; p.(Ala303Pro) variant in TUBB. All 15 patients exhibited developmental delays, with a broad spectrum of severity. Other common manifestations included microcephaly (n=10; 66.7%) and seizures (n=9; 60%). A review of the neuroimaging data revealed a range of findings that were both genotype-specific and overlapping across genotypes. In cases of TUBA1A mutation (n=5), four patients (80%) presented with pachygyria and polymicrogyria, while three (60%) displayed cerebellar hypoplasia and dysplasia. All patients with TUBB4A variants (n=6) exhibited hypomyelination, and three (50%) had cerebellar dysplasia. Conclusion This study represents the first cohort analysis of tubulin gene mutations associated with tubulinopathy in a Korean pediatric population. It suggests that these mutations can produce a broad spectrum of neurodevelopmental and neuroimaging findings and should be considered within the differential diagnosis in relevant clinical scenarios.

With the increasing use of primary hip arthroplasty for management of intertrochanteric fractures, firm fixation and union of the greater trochanteric (GT) fragment are required during hip arthroplasty for management of intertrochanteric fractures. Various methods have been suggested to address this issue. However, displacement of the GT is a frequent occurrence. We have introduced a cement-filling technique for performance of hip arthroplasty of the proximal femur for achievement of immediate firm fixation of the GT. Cement filling during performance of hip arthroplasty for management of femoral intertrochanteric fractures is a valuable technique for preventing displacement of the GT and to encourage early mobilization.

This manuscript represents the official position of the Korean Society of Echocardiography on valvular heart diseases.This position paper focuses on the clinical management of valvular heart diseases with reference to the guidelines recently published by the American College of Cardiology/American Heart Association and the European Society of Cardiology. The committee tried to reflect the recently published results on the topic of valvular heart diseases and Korean data by a systematic literature search based on validity and relevance. In part I of this article, we will review and discuss the current position of aortic valve disease in Korea.

This manuscript represents the official position of the Korean Society of Echocardiography on valvular heart diseases.This position paper focuses on the diagnosis and management of valvular heart diseases with referring to the guide‑ lines recently published by the American College of Cardiology/American Heart Association and the European Society of Cardiology. The committee sought to reflect national data on the topic of valvular heart diseases published to date through a systematic literature search based on validity and relevance. In the part II of this article, we intend to pre‑ sent recommendations for diagnosis and treatment of mitral valve disease and tricuspid valve disease.

Objective: To identify the prevalence and factors associated with T-score discordance between the spine and hip, as well as between the paretic and non-paretic hips in hemiplegic stroke patients, this study investigated bone mineral density (BMD) patterns. Bone loss predominantly affects the paretic hip after a stroke, and typical clinical assessments using dual-energy X-ray absorptiometry (DXA) that scan the lumbar spine (LS) and a single hip may overlook an osteoporosis diagnosis. This oversight could potentially lead to suboptimal treatment for stroke patients. Methods: This study was a multicenter retrospective analysis of 540 patients admitted for stroke rehabilitation between October 2014 and February 2022, who underwent DXA of LS and bilateral hips. Results: The prevalence rates of concordance, low LS discordance, and low hip discordance between the LS and hips were 48.2%, 12.2%, and 39.6%, respectively. The discordance rate between bilateral hips was 17.0%. The paretic side had significantly lower total hip T-scores than the non-paretic side (p<0.001). Notably low paretic hip discordance was more prevalent during the chronic phase. DXA scans of the LS and both hips revealed a 0.7%–0.9% higher major discordance compared to LS and single hip DXA scans. The multivariate analysis revealed a significant correlation between a low paretic hip discordance and cognitive impairment (adjusted odds ratio 0.071, 95% confidence interval 0.931–1.003, p<0.05). Conclusion Since stroke survivors are at high risk for hip fractures, comprehensive BMD assessments, which include LS and bilateral hips, should be considered for post-stroke osteoporosis care to enhance diagnostic accuracy and timely treatment.

Background: This study was designed to determine the current status of diagnosis and treatment of valvular heart disease (VHD) in Korea. Methods: A nationwide registry study was conducted in 45 hospitals in Korea involving adult patients with at least moderate VHD as determined by echocardiography carried out between September and October of 2019. Of a total of 4,094 patients with at least moderate VHD, 1,482 had severe VHD (age, 71.3 ± 13.5 years; 49.1% male). Echocar‑ diographic data used for the diagnosis of each case of VHD were analyzed. Experts from each center determined the diagnosis and treatment strategy for VHD based on current guidelines and institutional policy. The clinical out‑ come was in-hospital mortality. Results: Each valve underwent surgical or transcatheter intervention in 19.3% cases of severe mitral stenosis, 31.4% cases of severe primary mitral regurgitation (MR), 7.5% cases of severe secondary MR, 43.7% cases of severe aortic stenosis, 27.5% cases of severe aortic regurgitation, and 7.2% cases of severe tricuspid regurgitation. The overall inhospital mortality rate for patients with severe VHD was 5.4%, and for secondary severe MR and severe tricuspid regur‑ gitation, the rates were 9.0% and 7.5%, respectively, indicating a poor prognosis. In-hospital mortality occurred in 73 of the 1,244 patients (5.9%) who received conservative treatment and in 18 of the 455 patients (4.0%) who received a surgical or transcatheter intervention, which was significantly lower in the intervention group (P = 0.037). Conclusions This study provides important information about the current status of VHD diagnosis and treatment through a nationwide registry in Korea and helps to define future changes.

Objective: To identify the prevalence and factors associated with T-score discordance between the spine and hip, as well as between the paretic and non-paretic hips in hemiplegic stroke patients, this study investigated bone mineral density (BMD) patterns. Bone loss predominantly affects the paretic hip after a stroke, and typical clinical assessments using dual-energy X-ray absorptiometry (DXA) that scan the lumbar spine (LS) and a single hip may overlook an osteoporosis diagnosis. This oversight could potentially lead to suboptimal treatment for stroke patients. Methods: This study was a multicenter retrospective analysis of 540 patients admitted for stroke rehabilitation between October 2014 and February 2022, who underwent DXA of LS and bilateral hips. Results: The prevalence rates of concordance, low LS discordance, and low hip discordance between the LS and hips were 48.2%, 12.2%, and 39.6%, respectively. The discordance rate between bilateral hips was 17.0%. The paretic side had significantly lower total hip T-scores than the non-paretic side (p<0.001). Notably low paretic hip discordance was more prevalent during the chronic phase. DXA scans of the LS and both hips revealed a 0.7%–0.9% higher major discordance compared to LS and single hip DXA scans. The multivariate analysis revealed a significant correlation between a low paretic hip discordance and cognitive impairment (adjusted odds ratio 0.071, 95% confidence interval 0.931–1.003, p<0.05). Conclusion Since stroke survivors are at high risk for hip fractures, comprehensive BMD assessments, which include LS and bilateral hips, should be considered for post-stroke osteoporosis care to enhance diagnostic accuracy and timely treatment.

Background: This study was designed to determine the current status of diagnosis and treatment of valvular heart disease (VHD) in Korea. Methods: A nationwide registry study was conducted in 45 hospitals in Korea involving adult patients with at least moderate VHD as determined by echocardiography carried out between September and October of 2019. Of a total of 4,094 patients with at least moderate VHD, 1,482 had severe VHD (age, 71.3 ± 13.5 years; 49.1% male). Echocar‑ diographic data used for the diagnosis of each case of VHD were analyzed. Experts from each center determined the diagnosis and treatment strategy for VHD based on current guidelines and institutional policy. The clinical out‑ come was in-hospital mortality. Results: Each valve underwent surgical or transcatheter intervention in 19.3% cases of severe mitral stenosis, 31.4% cases of severe primary mitral regurgitation (MR), 7.5% cases of severe secondary MR, 43.7% cases of severe aortic stenosis, 27.5% cases of severe aortic regurgitation, and 7.2% cases of severe tricuspid regurgitation. The overall inhospital mortality rate for patients with severe VHD was 5.4%, and for secondary severe MR and severe tricuspid regur‑ gitation, the rates were 9.0% and 7.5%, respectively, indicating a poor prognosis. In-hospital mortality occurred in 73 of the 1,244 patients (5.9%) who received conservative treatment and in 18 of the 455 patients (4.0%) who received a surgical or transcatheter intervention, which was significantly lower in the intervention group (P = 0.037). Conclusions This study provides important information about the current status of VHD diagnosis and treatment through a nationwide registry in Korea and helps to define future changes.