Background/Aims: Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin II receptor blockers (ARBs) are associated with the development of hyperkalemia. We evaluated the relationship between the serum aldosterone-to-potassium ratio (APR) and the risk of developing hyperkalemia in patients with chronic kidney disease (CKD) receiving ACEIs or ARBs. Methods: One hundred eighty-six patients with stage 3–4 CKD receiving an ACEI or ARB for at least 3 months were evaluated. Serum aldosterone and potassium concentrations were measured simultaneously, and serum APR was calculated (ng/mL per mmol/L). Patients were divided into two groups for comparison according to the median value above or below 2.42. The primary outcome was the difference between the two groups in the development of hyperkalemia (defined as a serum potassium level > 5.5 mmol/L). Incidence rates and risk factors of hyperkalemia were assessed. Results: During the follow-up period, 144 hyperkalemic events in 81 patients (43.5%) were identified, yielding an incidence rate of 24.6 events/100 person-years. The incidence rate was significantly higher in patients with a low serum APR than in patients with a high APR (35.8 events/100 patient-years vs. 12.9 events/100 patient-years, p < 0.001). In addition, diabetes mellitus, history of hyperkalemia, CKD progression during the follow-up period, and low serum APR were predictors of the development of hyperkalemia. Conclusions Low serum APR was associated with the occurrence of hyperkalemia in patients with CKD receiving ACEIs or ARBs, suggesting that the identification of patients administered these drugs who are at high risk for hyperkalemia may be achieved using this index.

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.

Background: This study compares ultrasound and surgical findings of anatomical variations in de Quervain’s disease. Methods: Seventy-four wrists from patients with unilateral de Quervain’s disease were examined through ultrasonography and surgery. Presence of intracompartment septum, abductor pollicis longus (APL) slips, and selective stenosis were verified by both methods. Two orthopedic surgeons assessed ultrasound findings for intra- and interobserver reliability. Results: Amongst 74 participants (43 women and 31 men), 60.8% had a complete septum, 31.1% had an incomplete septum, and 8.1% had no septum; 70.3% had multi-slip APL and 66.2% had extensor pollicis brevis stenosis. Surgical and ultrasonographic findings displayed a high level of sensitivity and specificity. Intraobserver reliability was high, and interobserver reliability was substantial. Conclusions The study confirms ultrasonography’s reliability in identifying anatomical variations in de Quervain’s disease, with high sensitivity, specificity, and substantial intra- and interobserver reliability, emphasizing its usefulness in preoperative assessment and planning.

Purpose: The global increase in forcibly displaced people, combined with insufficient aid, leaves many—in particular, people with epilepsy—in a dire medical state. Our study aimed to understand the demographics and clinical features of epilepsy in the Nakivale refugee settlement and to highlight our intervention through the ‘CARE FOR ALL’ project, which will run for 5 years. Methods: Between August 2022 and May 2023, we conducted four outreach visits across three locations in Uganda, consulting 161 patients. After excluding incomplete data, we analyzed the medical records of 81 epilepsy cases. Results: Of the 81 patients, most were male (65.4%), under 18 years old (77.8%), had low education levels (93.8%), and were predominantly Congolese (58.0%). The majority experienced focal onset seizures (51.8%), and epilepsy began before the age of one in 28.4% of patients. All patients had comorbidities, with intellectual impairment (70.4%) and cerebral palsy (27.2%) being the most common. Identified risk factors included antenatal complications, central nervous system infections, and war-related injuries. Before our intervention, the treatment gap was 76.5%; this was reduced to 0% after the project, which also significantly decreased seizure frequency (seizure freedom 30.9%, P<0.05). Carbamazepine was the most common antiseizure medication used (59.2%). Conclusion Refugees with epilepsy face major barriers to care that negatively impact their quality of life. A coordinated effort by governments and health agencies is crucial to overcome these challenges and improve outcomes for displaced individuals with epilepsy.

Purpose: This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease-modifying treatments. Methods: A 14-month observational study was conducted to evaluate changes in HRQoL and functional performance using the Pediatric Quality of Life Inventory (PedsQL) Infant Scales and the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). Caregiver burden was assessed through the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND). Motor function was evaluated using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Correlations between CHOP INTEND scores, functional performance, and caregiver burden were analyzed. Results: Eight patients with infantile-onset SMA and their caregivers participated, with a median treatment initiation age of 4.6 months (range, 1.1 to 15.1). CHOP INTEND scores showed significant improvement (P<0.001), whereas all PedsQL Infant Scale scores declined. Conversely, the PEDI-CAT revealed significant enhancements in daily activities, mobility, and social-cognitive domains (all P<0.001). Caregiver burden lessened across most dimensions (P<0.001), with the exception of the time-related burden (P=0.731). Higher CHOP INTEND scores correlated with improvements in PEDI-CAT domains and a reduction in caregiver burden related to sitting/play and transfer activities. Conclusion The study demonstrates the positive effects of nusinersen on functional performance and caregiver burden in patients with infantile-onset SMA. However, discrepancies were observed in HRQoL outcomes, suggesting a need for further research that includes SMA-specific outcome measures to comprehensively assess the treatment's impact on patients' lives.

Background/Aims: Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin II receptor blockers (ARBs) are associated with the development of hyperkalemia. We evaluated the relationship between the serum aldosterone-to-potassium ratio (APR) and the risk of developing hyperkalemia in patients with chronic kidney disease (CKD) receiving ACEIs or ARBs. Methods: One hundred eighty-six patients with stage 3–4 CKD receiving an ACEI or ARB for at least 3 months were evaluated. Serum aldosterone and potassium concentrations were measured simultaneously, and serum APR was calculated (ng/mL per mmol/L). Patients were divided into two groups for comparison according to the median value above or below 2.42. The primary outcome was the difference between the two groups in the development of hyperkalemia (defined as a serum potassium level > 5.5 mmol/L). Incidence rates and risk factors of hyperkalemia were assessed. Results: During the follow-up period, 144 hyperkalemic events in 81 patients (43.5%) were identified, yielding an incidence rate of 24.6 events/100 person-years. The incidence rate was significantly higher in patients with a low serum APR than in patients with a high APR (35.8 events/100 patient-years vs. 12.9 events/100 patient-years, p < 0.001). In addition, diabetes mellitus, history of hyperkalemia, CKD progression during the follow-up period, and low serum APR were predictors of the development of hyperkalemia. Conclusions Low serum APR was associated with the occurrence of hyperkalemia in patients with CKD receiving ACEIs or ARBs, suggesting that the identification of patients administered these drugs who are at high risk for hyperkalemia may be achieved using this index.

Background/Aims: Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin II receptor blockers (ARBs) are associated with the development of hyperkalemia. We evaluated the relationship between the serum aldosterone-to-potassium ratio (APR) and the risk of developing hyperkalemia in patients with chronic kidney disease (CKD) receiving ACEIs or ARBs. Methods: One hundred eighty-six patients with stage 3–4 CKD receiving an ACEI or ARB for at least 3 months were evaluated. Serum aldosterone and potassium concentrations were measured simultaneously, and serum APR was calculated (ng/mL per mmol/L). Patients were divided into two groups for comparison according to the median value above or below 2.42. The primary outcome was the difference between the two groups in the development of hyperkalemia (defined as a serum potassium level > 5.5 mmol/L). Incidence rates and risk factors of hyperkalemia were assessed. Results: During the follow-up period, 144 hyperkalemic events in 81 patients (43.5%) were identified, yielding an incidence rate of 24.6 events/100 person-years. The incidence rate was significantly higher in patients with a low serum APR than in patients with a high APR (35.8 events/100 patient-years vs. 12.9 events/100 patient-years, p < 0.001). In addition, diabetes mellitus, history of hyperkalemia, CKD progression during the follow-up period, and low serum APR were predictors of the development of hyperkalemia. Conclusions Low serum APR was associated with the occurrence of hyperkalemia in patients with CKD receiving ACEIs or ARBs, suggesting that the identification of patients administered these drugs who are at high risk for hyperkalemia may be achieved using this index.

Purpose: The study aimed to compare the differences in patency between helical interwoven nitinol stents and balloon angioplasty in patients with arteriovenous graft (AVG) malfunction caused by venous anastomosis stenosis. Materials and Methods: This retrospective study included patients who underwent helical interwoven nitinol stent placement (n = 15) or balloon angioplasty (n = 25) between January 2016 and September 2021. The primary and secondary patency rates were compared between the two groups. Results: Dialysis was possible post-intervention in all patients who showed no specific complications, including stent fracture. The average primary patency of the stent placement group was longer than that of the balloon angioplasty group but did not differ significantly (8.5 vs. 6.3 months, p = 0.319). The mean secondary patency period was 17.6 months in the stent placement group, which was shorter than that in the balloon angioplasty group (18.8 months); however, this difference was also not statistically significant (p = 0.660). Conclusion Helical interwoven nitinol stents could maintain patency in patients with AVG malfunction caused by venous anastomosis stenosis, but they did not improve patency compared to balloon angioplasty.

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.

Background: This study compares ultrasound and surgical findings of anatomical variations in de Quervain’s disease. Methods: Seventy-four wrists from patients with unilateral de Quervain’s disease were examined through ultrasonography and surgery. Presence of intracompartment septum, abductor pollicis longus (APL) slips, and selective stenosis were verified by both methods. Two orthopedic surgeons assessed ultrasound findings for intra- and interobserver reliability. Results: Amongst 74 participants (43 women and 31 men), 60.8% had a complete septum, 31.1% had an incomplete septum, and 8.1% had no septum; 70.3% had multi-slip APL and 66.2% had extensor pollicis brevis stenosis. Surgical and ultrasonographic findings displayed a high level of sensitivity and specificity. Intraobserver reliability was high, and interobserver reliability was substantial. Conclusions The study confirms ultrasonography’s reliability in identifying anatomical variations in de Quervain’s disease, with high sensitivity, specificity, and substantial intra- and interobserver reliability, emphasizing its usefulness in preoperative assessment and planning.