Background/Aims: This study evaluated the clinical utility of serum periostin measured at diagnosis in reflecting activity at diagnosis and predicting all-cause mortality during follow-up in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Methods: This study included 76 patients with AAV whose serum periostin was measured from sera collected and stored at diagnosis. The correlation of either serum periostin or the Birmingham Vasculitis Activity Score (BVAS) with other variables was evaluated. Cumulative survival rates were compared using Kaplan–Meier survival analysis. The variables at diagnosis were compared between deceased and surviving patients. Hazard ratios were obtained by Cox proportional hazard analysis. Results: The median age of the 76 patients was 64.0 years and 60.5% were female. The median BVAS and serum periostin were 5.0 and 10.9 ng/mL, respectively. Five of the 76 patients (6.6%) died. Serum periostin was independently correlated with cross-sectional BVAS, the Vasculitis Damage Index (VDI), white blood cell count, and serum albumin. Patients with serum periostin ≥ 15.9 ng/mL at diagnosis had a significantly lower cumulative survival rate than those without. In addition to high VDI, dyslipidaemia frequency, and C-reactive protein, deceased patients showed higher serum periostin than surviving patients. In multivariable Cox analysis, however, only dyslipidaemia rather than serum periostin was identified as an independent predictor of all-cause mortality. Conclusions This study is the first to demonstrate that serum periostin at diagnosis could independently reflect cross-sectional BVAS and further partially contribute to all-cause mortality prediction in patients with AAV.

Purpose: 11C-Methionine PET/CT is a promising method for detecting parathyroid lesions in patients with primary hyperparathyroidism (PHPT). We aimed to determine the diagnostic ability and correlation of digital 11C-Methionine PET/CT for parathyroid lesions in patients with PHPT, particularly in cases where standard imaging methods yielded inconclusive results. Methods: This retrospective analysis was conducted on patients diagnosed with PHPT who underwent digital 11C-Methionine PET/CT imaging because of ambiguous results on standard imaging work-up ( 99m Tc-MIBI parathyroid scan and/or neck ultrasonography). Quantitative 11C-Methionine PET/CT parameters, including maximum standardized uptake value (SUVmax), mean SUV (SUVmean), peak SUV (SUVpeak), parathyroid methionine volume (PMV), and whole methionine uptake(WMU: PMV multiplied by SUVmean) were calculated with various thresholds, and their correlations with biochemical andpathologic parameters were investigated. Results: This study included 22 consecutive patients (10 men and 12 women) with a median age of 64.0 years. The lesion detection rate and sensitivity of digital 11C-Methionine PET/CT were 81.8% (18/22) and 100.0% (18/18), respectively.Quantitative analysis revealed that serum PTH (r = 0.490, P = 0.039) and serum calcium (r = 0.583, P = 0.011) were signifi-cantly correlated with PMV50%. Conclusion Digital 11C-Methionine PET/CT offers good performance in the detection of parathyroid lesions in PHPT patients with inconclusive standard imaging work-up. The volume parameter of PMV50% significantly correlated biochemi-cal parameters and can serve as a complementary diagnostic tool.

Background/Aims: This study evaluated the clinical utility of serum periostin measured at diagnosis in reflecting activity at diagnosis and predicting all-cause mortality during follow-up in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Methods: This study included 76 patients with AAV whose serum periostin was measured from sera collected and stored at diagnosis. The correlation of either serum periostin or the Birmingham Vasculitis Activity Score (BVAS) with other variables was evaluated. Cumulative survival rates were compared using Kaplan–Meier survival analysis. The variables at diagnosis were compared between deceased and surviving patients. Hazard ratios were obtained by Cox proportional hazard analysis. Results: The median age of the 76 patients was 64.0 years and 60.5% were female. The median BVAS and serum periostin were 5.0 and 10.9 ng/mL, respectively. Five of the 76 patients (6.6%) died. Serum periostin was independently correlated with cross-sectional BVAS, the Vasculitis Damage Index (VDI), white blood cell count, and serum albumin. Patients with serum periostin ≥ 15.9 ng/mL at diagnosis had a significantly lower cumulative survival rate than those without. In addition to high VDI, dyslipidaemia frequency, and C-reactive protein, deceased patients showed higher serum periostin than surviving patients. In multivariable Cox analysis, however, only dyslipidaemia rather than serum periostin was identified as an independent predictor of all-cause mortality. Conclusions This study is the first to demonstrate that serum periostin at diagnosis could independently reflect cross-sectional BVAS and further partially contribute to all-cause mortality prediction in patients with AAV.

The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

Purpose: 11C-Methionine PET/CT is a promising method for detecting parathyroid lesions in patients with primary hyperparathyroidism (PHPT). We aimed to determine the diagnostic ability and correlation of digital 11C-Methionine PET/CT for parathyroid lesions in patients with PHPT, particularly in cases where standard imaging methods yielded inconclusive results. Methods: This retrospective analysis was conducted on patients diagnosed with PHPT who underwent digital 11C-Methionine PET/CT imaging because of ambiguous results on standard imaging work-up ( 99m Tc-MIBI parathyroid scan and/or neck ultrasonography). Quantitative 11C-Methionine PET/CT parameters, including maximum standardized uptake value (SUVmax), mean SUV (SUVmean), peak SUV (SUVpeak), parathyroid methionine volume (PMV), and whole methionine uptake(WMU: PMV multiplied by SUVmean) were calculated with various thresholds, and their correlations with biochemical andpathologic parameters were investigated. Results: This study included 22 consecutive patients (10 men and 12 women) with a median age of 64.0 years. The lesion detection rate and sensitivity of digital 11C-Methionine PET/CT were 81.8% (18/22) and 100.0% (18/18), respectively.Quantitative analysis revealed that serum PTH (r = 0.490, P = 0.039) and serum calcium (r = 0.583, P = 0.011) were signifi-cantly correlated with PMV50%. Conclusion Digital 11C-Methionine PET/CT offers good performance in the detection of parathyroid lesions in PHPT patients with inconclusive standard imaging work-up. The volume parameter of PMV50% significantly correlated biochemi-cal parameters and can serve as a complementary diagnostic tool.

Background/Aims: This study evaluated the clinical utility of serum periostin measured at diagnosis in reflecting activity at diagnosis and predicting all-cause mortality during follow-up in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Methods: This study included 76 patients with AAV whose serum periostin was measured from sera collected and stored at diagnosis. The correlation of either serum periostin or the Birmingham Vasculitis Activity Score (BVAS) with other variables was evaluated. Cumulative survival rates were compared using Kaplan–Meier survival analysis. The variables at diagnosis were compared between deceased and surviving patients. Hazard ratios were obtained by Cox proportional hazard analysis. Results: The median age of the 76 patients was 64.0 years and 60.5% were female. The median BVAS and serum periostin were 5.0 and 10.9 ng/mL, respectively. Five of the 76 patients (6.6%) died. Serum periostin was independently correlated with cross-sectional BVAS, the Vasculitis Damage Index (VDI), white blood cell count, and serum albumin. Patients with serum periostin ≥ 15.9 ng/mL at diagnosis had a significantly lower cumulative survival rate than those without. In addition to high VDI, dyslipidaemia frequency, and C-reactive protein, deceased patients showed higher serum periostin than surviving patients. In multivariable Cox analysis, however, only dyslipidaemia rather than serum periostin was identified as an independent predictor of all-cause mortality. Conclusions This study is the first to demonstrate that serum periostin at diagnosis could independently reflect cross-sectional BVAS and further partially contribute to all-cause mortality prediction in patients with AAV.

Purpose: 11C-Methionine PET/CT is a promising method for detecting parathyroid lesions in patients with primary hyperparathyroidism (PHPT). We aimed to determine the diagnostic ability and correlation of digital 11C-Methionine PET/CT for parathyroid lesions in patients with PHPT, particularly in cases where standard imaging methods yielded inconclusive results. Methods: This retrospective analysis was conducted on patients diagnosed with PHPT who underwent digital 11C-Methionine PET/CT imaging because of ambiguous results on standard imaging work-up ( 99m Tc-MIBI parathyroid scan and/or neck ultrasonography). Quantitative 11C-Methionine PET/CT parameters, including maximum standardized uptake value (SUVmax), mean SUV (SUVmean), peak SUV (SUVpeak), parathyroid methionine volume (PMV), and whole methionine uptake(WMU: PMV multiplied by SUVmean) were calculated with various thresholds, and their correlations with biochemical andpathologic parameters were investigated. Results: This study included 22 consecutive patients (10 men and 12 women) with a median age of 64.0 years. The lesion detection rate and sensitivity of digital 11C-Methionine PET/CT were 81.8% (18/22) and 100.0% (18/18), respectively.Quantitative analysis revealed that serum PTH (r = 0.490, P = 0.039) and serum calcium (r = 0.583, P = 0.011) were signifi-cantly correlated with PMV50%. Conclusion Digital 11C-Methionine PET/CT offers good performance in the detection of parathyroid lesions in PHPT patients with inconclusive standard imaging work-up. The volume parameter of PMV50% significantly correlated biochemi-cal parameters and can serve as a complementary diagnostic tool.

Background/Aims: This study evaluated the clinical utility of serum periostin measured at diagnosis in reflecting activity at diagnosis and predicting all-cause mortality during follow-up in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Methods: This study included 76 patients with AAV whose serum periostin was measured from sera collected and stored at diagnosis. The correlation of either serum periostin or the Birmingham Vasculitis Activity Score (BVAS) with other variables was evaluated. Cumulative survival rates were compared using Kaplan–Meier survival analysis. The variables at diagnosis were compared between deceased and surviving patients. Hazard ratios were obtained by Cox proportional hazard analysis. Results: The median age of the 76 patients was 64.0 years and 60.5% were female. The median BVAS and serum periostin were 5.0 and 10.9 ng/mL, respectively. Five of the 76 patients (6.6%) died. Serum periostin was independently correlated with cross-sectional BVAS, the Vasculitis Damage Index (VDI), white blood cell count, and serum albumin. Patients with serum periostin ≥ 15.9 ng/mL at diagnosis had a significantly lower cumulative survival rate than those without. In addition to high VDI, dyslipidaemia frequency, and C-reactive protein, deceased patients showed higher serum periostin than surviving patients. In multivariable Cox analysis, however, only dyslipidaemia rather than serum periostin was identified as an independent predictor of all-cause mortality. Conclusions This study is the first to demonstrate that serum periostin at diagnosis could independently reflect cross-sectional BVAS and further partially contribute to all-cause mortality prediction in patients with AAV.

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.