Inje University Seoul Paik Hospital

Management of severe distal tibia pilon fractures (AO/OTA 43-C3) in older adults is exceptionally challenging. Open reduction and internal fixation is associated with a high incidence of posttraumatic arthritis, whereas primary arthrodesis results in significant functional limitations. We investigated primary total ankle replacement (TAR) as a definitive, single-stage, motion-preserving solution. We retrospectively reviewed 29 older adult patients (age ≥60 years) treated with primary TAR since 2016 for comminuted pilon fractures. Inclusion required severe articular destruction (AO/OTA 43-C2/C3) but a reconstructable metaphyseal cortical shell. We evaluated surgical timing, adjunctive fixation, bone grafting, and clinical and radiographic outcomes. The primary outcome was the American Orthopaedic Foot & Ankle Society (AOFAS) ankle-hindfoot score at ≥6 months. At 6 months post-surgery, the mean AOFAS score was 85.2 ± 7.5. Metaphyseal fracture union was achieved in all cases at an average of 17.4 ± 2.1 weeks. Postoperative alignment was excellent, with a mean medial distal tibial angle (MDTA) of 89.2° ± 1.8°. No deep infections, insert dislocations, or component overhang were observed. Three patients (10.3%) developed progressive valgus deformity, with MDTA increasing by an average of 3.4° at 1 year. In this retrospective level IV series with short-term follow-up, primary TAR may be a feasible option for carefully selected older adult patients with comminuted pilon fractures and a preserved metaphyseal cortical shell, demonstrating encouraging early functional outcomes. Longer term follow-up is required to determine implant survivorship and revision risk.

Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder marked by early-onset encephalopathy. This report investigates the genetic basis of AGS in a newborn from consanguineous parents with microcephaly, recurrent hemorrhagic strokes, brain calcifications, leukodystrophy, epilepsy, anemia, thrombocytopenia, and left ventricular hypertrophy. Next-generation sequencing-based targeted gene panel testing for epilepsy c.65-13G>A variant in the RNASEH2B gene. Both parents were identified as carriers of the heterozygous mutation, confirming autosomal recessive inheritance. RNA analysis showed that this variant created a new splice site, leading to an 11-base-pair extension in exon 2. This alteration caused a frameshift (p.Glu22Valfs*7) and subsequent truncation of the RNASEH2B protein. This case highlights the severe neurological manifestations of AGS in newborns and elucidates the pathogenic mechanism of a newly identified intronic RNASEH2B variant.

BackgroundThe optimal type of anesthesia for reducing postoperative delirium remains undetermined. This study aimed to assess the relationship between type of anesthesia and postoperative delirium.MethodsThis retrospective national cohort study used data collected between 2016 and 2021 from the National Health Insurance Service of South Korea. Adult patients who underwent primary total hip or total knee arthroplasty under general or regional anesthesia were included. Patients with postoperative delirium were identified after arthroplasty according to the International Classification of Diseases 10th revision code for delirium (F05). The patients were divided into two groups: regional anesthesia (RA group) and general anesthesia (GA group). The primary endpoint was the incidence of postoperative delirium during hospitalization after total hip or knee arthroplasty.ResultsOur study sample consisted of 664,598 patients: 474,932 in the RA group and 189,666 in the GA group. After propensity score (PS) matching, 276,582 patients (138,291 in each group) were included in the final analysis. In the PS-matched cohort, the incidence of delirium following total knee or total hip arthroplasty was 2.8% (3,842/138,291) in the GA group and 2.3% (3,147/138,291) in the RA group. In logistic regression, the RA group was associated with 18% (odds ratio: 0.82, 95% confidence interval: 0.78, 0.86; P < 0.001) lower postoperative incidence than the GA group.ConclusionCompared to general anesthesia, regional anesthesia was associated with a decreased incidence of postoperative delirium in patients who underwent total hip or total knee arthroplasty. Our findings indicate that avoiding general anesthesia may prevent delirium after lower limb surgery.

Ankylosing spondylitis (AS) predominantly affects the spine and sacroiliac joints, with rare renal involvement. We investigated the incidence rate and risk factors for chronic kidney disease (CKD) in patients with AS and its relationship with long-term nonsteroidal anti-inflammatory drug (NSAID) use. We retrospectively analyzed data of patients diagnosed with AS from the Korean National Health Insurance service. The 3-month, 6-month, and 1-year Assessment of SpondyloArthritis International Society (ASAS) NSAID Intake Scores were categorized into four groups, as follows: =0, >0 and ≤33.3, 33.3-66.6, and >66.6. Of the 12 000 patients with AS, 150 were identified with CKD, and the incidence rate was 4.64 per 10 000 patient-years. Factors significantly associated with CKD included age ≥60 years, Charlson Comorbidity Index, hypertension, and diabetes mellitus. In the nested case-control analysis, among the ASAS NSAIDs Intake Scores for 0-365 days from diagnosis, the ≥66.6 group had a significantly lower odds ratio than those of the =0 group. The present study established the incidence rate of CKD in Korean patients with AS. Though older age and comorbidities were found to be associated with a higher CKD risk, long-term NSAID use was associated with a lower risk. Therefore, the optimal use of NSAIDs in inflammatory diseases requires extensive research.

ObjectiveAdenomyosis impacts pregnancy outcomes, although there is a lack of consensus regarding the actual effects. It is likely, however, that the severity of adenomyosis or ultrasound findings or timing of diagnosis can have different effects on adverse pregnancy outcomes (APOs).MethodsIn this study, we aimed to investigate the impact of the timing of adenomyosis diagnosis on pregnancy outcomes. Singleton pregnant women who delivered between 2017 and 2022 were analyzed based on the timing of adenomyosis diagnosis, using a national database. The final cohort was classified into three groups: 1) group 1, without adenomyosis; 2) group 2, those diagnosed with adenomyosis before pregnancy; and 3) group 3, those diagnosed with adenomyosis during pregnancy.ResultsA total of 1,226,475 cases were ultimately included in this study. Women with a diagnosis of adenomyosis had a significantly higher risk of APOs including hypertensive disorder during pregnancy (HDP), gestational diabetes mellitus (GDM), postpartum hemorrhage, placental abruption, preterm birth, and delivery of a small-for-gestational-age infant even after adjusting for covariates. In particular, concerning HDP, the risk was highest in group 3 (group 2: adjusted odds ratio [aOR], 1.15 vs. group 3: aOR, 1.36). However, the highest GDM risk was in group 2 (GDM; group 2: aOR, 1.24 vs. group 3: aOR, 1.04).ConclusionThe increased risk of APO differed depending on the timing of adenomyosis diagnosis. Therefore, efforts for more careful monitoring and prevention of APOs may be necessary when such women become pregnant.

Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum and global developmental delay. Among several PCH types, PCH7 is a characteristic type that manifests with not only brain lesions but also sexual developmental disorders. The causative gene, TOE1, encodes a protein involved in small ribonucleic acid maturation and processing. TOE1 mutation is associated with neuronal survival that causes hypoplasia of the cerebellum and pons. We report the case of a male patient with PCH7, developmental delay, ataxia, micropenis, and undescended testis. Genetic analysis revealed compound heterozygous missense variants (c.955C>T and c.533T>G) in the TOE1 gene.

BackgroundThe changes in bone metabolism may occur earlier than those that can be identified on radiography. Although studies have evaluated the changes in inflammatory markers that precede radiographic progression, no studies have evaluated the relationship between the timing of changes in bone metabolism and radiographic progression in patients with AS.ObjectivesTo determine the relationship between serum alkaline phosphatase levels and radiographic changes over time in ankylosing spondylitis.MethodsThis retrospective study evaluated the electronic medical records of patients with ankylosing spondylitis between January 2001 and December 2018. Longitudinal data including serum alkaline phosphatase levels were imputed by linear interpolation at 3-month intervals. Among the serum alkaline phosphatase levels for 8 years prior to measurement of the modified Stoke Ankylosing Spondylitis Spinal Score, the serum alkaline phosphatase level having the highest beta coefficient with the modified Stoke Ankylosing Spondylitis Spinal Score was selected. Linear mixed models with the selected serum alkaline phosphatase levels and the modified Stoke Ankylosing Spondylitis Spinal Score, including clinical variables, were investigated.ResultsOverall, 1122 patients were included, with a mean follow-up period of 8.20 (standard deviation: 2.85) years. Of the series of serum alkaline phosphatase levels, the level in the previous 5 years and 3 months showed the highest beta coefficient with the modified Stoke Ankylosing Spondylitis Spinal Score (Figure 1). In the linear mixed model including clinical variables, the serum alkaline phosphatase level 5 years and 3 months before radiographic changes was significantly associated with the modified Stoke Ankylosing Spondylitis Spinal Score (β=0.021, 95% confidence interval: 0.017–0.025, p<.001).ConclusionSerum alkaline phosphatase levels measured at approximately 5 years before may be a surrogate marker for predicting spinal radiographic changes. Long-term prospective clinical and experimental studies of > 5 years are required for biomarker discovery or therapeutic research on the radiographic progression of ankylosing spondylitis.Figure 1.Beta coefficients of ALP levels to calculate the modified Stoke Ankylosing Spondylitis Spinal Score (mSASSS). ALP levels 5 years and 3 months before measured mSASSS had the highest significant beta coefficient (0.020, 95% CI 0.016–0.023) with mSASSS (asterisk).mSASSS, the modified Stoke Ankylosing Spondylitis Spinal Score; ALP, alkaline phosphatase.REFERENCES:NIL.Acknowledgements:NIL.Disclosure of InterestsNone Declared.

It remains uncertain whether albuminuria can identify elderly patients with diabetes at a high risk of incident end-stage kidney disease (ESKD) or mortality. 3065 patients (aged ≥ 65 years) with type 2 diabetes were included. We examined the association between albuminuria stages (normoalbuminuria, A1; microalbuminuria, A2; and macroalbuminuria, A3) and the risk of incident ESKD and all-cause mortality for each age group (65–69, 70–74, and ≥ 75 years). A2 and A3 were observed in 25.5% and 9.4% of the subjects, respectively. For A1, A2, and A3, the probabilities of ESKD at 8 years were 1.0%, 6.3%, and 29.7% (P < 0.001 for all), and the all-cause mortality was 13.1%, 27.4%, and 31.7% (P < 0.001 for A1 vs A2, P < 0.001 for A1 vs A3), respectively. Albuminuria stages were independently associated with an increased risk of ESKD [fully adjusted hazard ratios (HR): 3.650 (1.987–6.702) for A2, 10.404 (5.706–18.972) for A3 vs. A1]. The HRs of all-cause mortality were 1.742 (1.411–2.153) for A2 and 1.810 (1.344–2.441) for A3. The associations between albuminuria stages and the risk of ESKD and all-cause mortality were consistent across all age groups. Even microalbuminuria is also a risk factor for incident ESKD and mortality in elderly patients with diabetes.

Aims Endoscopic biopsy is a essential tool for the histologic diagnosis. But the pathologic findings are not always concordant with the endoscopic diagnosis. We evaluated the role of endoscopic submucosal dissection (ESD) for the pathologic diagnosis when the pathologic diagnosis is discrepant from the endoscopic diagnosis [1].