Background: Acute respiratory failure (ARF) is the leading cause of hospitalization and is associated with in-hospital mortality. This study aimed to elucidate the epidemiology and clinical outcomes of ARF. Methods: We retrospectively screened patients admitted to three hospitals in South Korea between January 2018 and December 2022. We included individuals aged 18 years, diagnosed with either type 1 ARF (arterial oxygen partial pressure [PaO2] <60 mm Hg) or type 2 ARF (arterial carbon dioxide partial pressure (PaCO2) >45 mm Hg) with a pH of <7.35, or diagnosed with the combined-type ARF. Results: Among the 768,700 hospitalized patients, 33,278 (4.3%) developed ARF. The most common cause of ARF was sepsis (15,757 patients, 47.3%), and the most frequent comorbidity was malignancy (15,403 patients, 43.6%). Among ARF patients, 15,671 (47.1%) required intensive care unit transfer, while 8,980 (27.0%) experienced in-hospital mortality. Over 5 years, the proportion of ARF patients aged 80 years and older has shown a consistent annual increase (coefficient, 0.085 and Ptrend <0.001). Concurrently, the in-hospital mortality rate exhibited an upward trend, increasing from 25.5% in 2018 to 29.3% in 2022 (coefficient, 1.017 and Ptrend<0.001). Among the respiratory support methods used for patients with ARF over the 5-year period, high-flow nasal cannula usage steadily increased (coefficient, 4.137 and Ptrend<0.001), whereas the use of invasive mechanical ventilation declined (coefficient, –0.983 and Ptrend<0.001). Conclusions ARF frequency and in-hospital mortality rates are increasing, driven by various etiologies. Despite these trends, research on the epidemiology and individualized treatments for older patients is limited, highlighting the need for nationwide prospective multicenter studies.

Background: Genetic alterations play a pivotal role in multiple myeloma (MM) development and therapeutic resistance. Traditionally, the genetic profiling of MM requires invasive bone marrow (BM) procedures; however, these procedures are associated with patient discomfort and cannot fully capture the spatial and temporal heterogeneity of the disease.Therefore, we investigated the clinical implications of liquid biopsy using targeted deep sequencing. Methods: We analyzed the genetic profiles of circulating tumor DNA (ctDNA) by targeted deep sequencing from 102 patients, including those with monoclonal gammopathy of undetermined significance (MGUS, N = 7), smoldering MM (N = 6), and symptomatic MM (N = 89). Results: The number of ctDNA mutations increased with disease progression from MGUS to MM, with averages of 1.0 mutations in MGUS, 1.8 mutations in smoldering MM, and 1.9 mutations in MM, respectively. Shared mutations between BM and ctDNA were more prevalent in MM (68.9%) than in MGUS (25.0%). RAS/RAF and TP53 mutations were significantly enriched in MM ctDNA. Specific mutations were associated with clinical features in patients with MM: hypercalcemia and TET2 (P = 0.006), renal insufficiency and NRAS (P = 0.012), paramedullary myeloma and TP53(P = 0.02), and extramedullary myeloma and NRAS (P = 0.007). TET2 mutations significantly affected 2-yr progression-free survival (hazard ratio = 7.11, P = 0.003). Serial ctDNA profiling accurately predicted treatment response in patients with MM. Conclusions Our findings highlight the potential of liquid biopsy for understanding MM progression and prognosis utilizing a minimally invasive approach, paving the way for its integration into personalized treatment strategies and real-time disease monitoring.

Enterococcus faecium, particularly in its multidrug-resistant forms, causes invasive nosocomial infections. Given the limited data comparing the effectiveness of the European Committee on Antimicrobial Susceptibility Testing (EUCAST) and the CLSI clinical breakpoints (CBPs) for quinupristin–dalfopristin (QD) resistance and the need to evaluate their practical application, we retrospectively investigated the susceptibility patterns of 287 E.faecium bloodstream isolates from Korean hospitals to QD using the updated EUCAST and CLSI CBPs and two antimicrobial susceptibility testing methods: disk diffusion (DD) and Sensititre broth microdilution (Sensititre). QD resistance rates were 5.9% (CLSI) and 18.8% (EUCAST) for DD and 22.6% (CLSI) and 28.2% (EUCAST) for Sensititre. The most prevalent QD resistance gene types among QD-resistant isolates were ermB+msrC+ or ermB– msrC+. Categorical agreement between DD and Sensititre ranged from 77.7% to 90.7%, depending on the testing method and CBPs applied. The EUCAST zone diameter CBPs more effectively help identify QD-resistant E. faecium isolates using the DD method than the CLSI zone diameter CBPs. In comparison, the CLSI minimum inhibitory concentration (MIC) CBPs provide more reliable results for resistance classification in the Sensititre method than EUCAST MIC CBPs. These findings would help improve clinical decision-making for treating multidrug-resistant E. faecium infections.

Multidirectional joint instability is a condition where laxity occurs in two or more directions. This condition typically arises congenitally or because of hypermobility or repetitive, excessive physical activity. It can also occur from chronic damage to the joint capsule and multiple ligaments, causing a breakdown in stability. Despite the numerous studies conducted on multidirectional instability of the shoulder, there is a lack of published research on multidirectional instability of the ankle. This paper reports the case of a male patient in his early 30s, engaged in high-demand physical activity, who presented with simultaneous medial and lateral ankle instability. The patient underwent a combination of procedures, including an anterior talofibular ligament reconstruction with suture tape, deltoid ligament reattachment with suture anchors, anteroinferior tibiofibular ligament reconstruction with suture tape, and syndesmotic screw fixation with Tightrope insertion. The patient was followed up for one year postoperatively. This paper reports the clinical outcomes with a review of the relevant literature.

Background: Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population. Methods: In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants. Results: We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437. Conclusion Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.

Multidirectional joint instability is a condition where laxity occurs in two or more directions. This condition typically arises congenitally or because of hypermobility or repetitive, excessive physical activity. It can also occur from chronic damage to the joint capsule and multiple ligaments, causing a breakdown in stability. Despite the numerous studies conducted on multidirectional instability of the shoulder, there is a lack of published research on multidirectional instability of the ankle. This paper reports the case of a male patient in his early 30s, engaged in high-demand physical activity, who presented with simultaneous medial and lateral ankle instability. The patient underwent a combination of procedures, including an anterior talofibular ligament reconstruction with suture tape, deltoid ligament reattachment with suture anchors, anteroinferior tibiofibular ligament reconstruction with suture tape, and syndesmotic screw fixation with Tightrope insertion. The patient was followed up for one year postoperatively. This paper reports the clinical outcomes with a review of the relevant literature.

Background: Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population. Methods: In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants. Results: We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437. Conclusion Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.