Objectives: Sepsis is a leading global cause of mortality, and predicting its outcomes is vital for improving patient care. This study explored the capabilities of ChatGPT, a state-of-the-art natural language processing model, in predicting in-hospital mortality for sepsis patients. Methods: This study utilized data from the Korean Sepsis Alliance (KSA) database, collected between 2019 and 2021, focusing on adult intensive care unit (ICU) patients and aiming to determine whether ChatGPT could predict all-cause mortality after ICU admission at 7 and 30 days. Structured prompts enabled ChatGPT to engage in in-context learning, with the number of patient examples varying from zero to six. The predictive capabilities of ChatGPT-3.5-turbo and ChatGPT-4 were then compared against a gradient boosting model (GBM) using various performance metrics. Results: From the KSA database, 4,786 patients formed the 7-day mortality prediction dataset, of whom 718 died, and 4,025 patients formed the 30-day dataset, with 1,368 deaths. Age and clinical markers (e.g., Sequential Organ Failure Assessment score and lactic acid levels) showed significant differences between survivors and non-survivors in both datasets. For 7-day mortality predictions, the area under the receiver operating characteristic curve (AUROC) was 0.70–0.83 for GPT-4, 0.51–0.70 for GPT-3.5, and 0.79 for GBM. The AUROC for 30-day mortality was 0.51–0.59 for GPT-4, 0.47–0.57 for GPT-3.5, and 0.76 for GBM. Zero-shot predictions using GPT-4 for mortality from ICU admission to day 30 showed AUROCs from the mid-0.60s to 0.75 for GPT-4 and mainly from 0.47 to 0.63 for GPT-3.5. Conclusions GPT-4 demonstrated potential in predicting short-term in-hospital mortality, although its performance varied across different evaluation metrics.

Heterotopic salivary gland tissue (HSGT) consists of salivary tissue in places where it does not normally exist. Usually, HSGT presents as a draining sinus or nodule of the neck. The pathogenesis of HSGT of the neck remains uncertain. But HSGT in the neck is most widely thought to arise from defective closures and ectodermal hetroplasia of the precervical sinus of His. HSGT in the neck is rare and only a few cases have been reported in Korea. We recently experienced a case of HSGT in the neck presenting as a fistula of the anterior lower neck. We thought this as a 2nd brachial cleft anomaly; however, biopsy revealed HSGT. HSGT in the neck should be considered as one of the causes of a neck mass or fistula in children. Herein, we report this case of HSGT with a literature review.

Background: New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. We designed a targeted sequencing platform to avoid ethical issues and reduce the turnaround time. Methods: We designed an automated sequencing platform using dried blood spot samples and a NEOseq_ACTION panel comprising 254 genes associated with Mendelian diseases having curable or manageable treatment options. Retrospective validation was performed using data from 24 genetically and biochemically confirmed patients. Prospective validation was performed using data from 111 patients with suspected actionable genetic diseases. Results: In prospective clinical validation, 13.5% patients presented with medically actionable diseases, including short- or medium-chain acyl-CoA dehydrogenase deficiencies (N=6), hyperphenylalaninemia (N=2), mucopolysaccharidosis type IVA (N=1), alpha thalassemia (N=1), 3-methylcrotonyl-CoA carboxylase 2 deficiency (N=1), propionic acidemia (N=1), glycogen storage disease, type IX(a) (N=1), congenital myasthenic syndrome (N=1), and citrullinemia, type II (N=1). Using the automated analytic pipeline, the turnaround time from blood collection to result reporting was <4 days. Conclusions This pilot study evaluated the possibility of rapid and timely diagnosis of treatable rare genetic diseases using a panel designed by a multidisciplinary team. The automated analytic pipeline maximized the clinical utility of rapid targeted sequencing for medically actionable genes, providing a strategy for appropriate and timely treatment of rare genetic diseases.

Objective: To compare the therapeutic outcomes of laparoscopic hepatic resection (LHR) and laparoscopic radiofrequency ablation (LRFA) for single subcapsular hepatocellular carcinoma (HCC). Materials and Methods: We screened 244 consecutive patients who had received either LHR or LRFA between January 2014 and December 2016. The feasibility of LRFA in patients who underwent LHR was retrospectively assessed by two interventional radiologists. Finally, 60 LRFA-feasible patients who had received LHR and 29 patients who had received LRFA as the first treatment for a solitary subcapsular HCC between 1 cm and 3 cm were finally included. We compared the therapeutic outcomes, including local tumor progression (LTP), recurrence-free survival (RFS), and overall survival (OS) between the two groups before and after propensity score (PS) matching. Multivariable Cox proportional hazard regression was also used to evaluate the difference in OS and RFS between the two groups for all 89 patients. Results: PS matching yielded 23 patients in each group. The cumulative LTP and OS rates were not significantly different between the LHR and LRFA groups after PS matching (p = 0.900 and 0.003, respectively). The 5-year LTP rates were 4.6% and 4.4%, respectively, and OS rates were 100% and 90.7%, respectively. The RFS rate was higher in LHR group without statistical significance (p = 0.070), with 5-year rates of 78.3% and 45.3%, respectively. OS was not significantly different between the LHR (reference) and LRFA groups in multivariable analyses, with a hazard ratio (HR) of 1.33 (95% confidence interval, 0.12–1.54) (p = 0.818). RFS was higher in LHR (reference) than in LRFA without statistical significance in multivariable analysis, with an HR of 2.01 (0.87–4.66) (p = 0.102). Conclusion There was no significant difference in therapeutic outcomes between LHR and LRFA for single subcapsular HCCs measuring 1–3 cm. The difference in RFS should be further evaluated in a larger study.

Purpose: Radiofrequency ablation is a curative treatment option for very early-stage or earlystage hepatocellular carcinoma (HCC). However, percutaneous radiofrequency ablation (PRFA) for subphrenic tumors is technically challenging. Laparoscopic radiofrequency ablation (LRFA) has been used to overcome this disadvantage. This study compared the treatment outcomes between LRFA and PRFA for subphrenic HCC. Methods: This retrospective study screened patients who underwent PRFA or LRFA for subphrenic HCC between 2013 and 2018. Therapeutic outcomes, including local tumor progression (LTP), intrahepatic distant recurrence (IDR), extrahepatic metastasis (EM), disease-free survival (DFS), and overall survival (OS), were compared between the two groups. Results: Thirty patients in the PRFA group and 23 patients in the LRFA group were included. LTP was observed in six patients in the PRFA group (20%), but in no patients in the LRFA group. The cumulative LTP rates at 1, 3, and 5 years were 3.7%, 23.4%, and 23.4%, respectively, in the PRFA group and 0.0% in the LRFA group (P=0.015). The IDR, EM, and DFS rates were not significantly different between the two groups (P=0.304, P=0.175, and P=0.075, respectively). The OS rates at 1, 3, and 5 years were 96.6%, 85.7%, and 71.6%, respectively, in the PRFA group and 100%, 95.7%, and 95.7%, respectively, in the LRFA group (P=0.049). Conclusion LRFA demonstrated better therapeutic outcomes than did PRFA for subphrenic tumors in terms of LTP and OS. Therefore, LRFA can be considered as the first-line treatment option for subphrenic HCC.

Objectives: . Thyroid cancer is the most common endocrine tumor, with rapidly increasing incidence worldwide. However, its transcriptomic characteristics associated with immunological signatures, driver fusions, and recurrence markers remain unclear. We aimed to investigate the transcriptomic characteristics of advanced papillary thyroid cancer. Methods: . This study included 282 papillary thyroid cancer tumor samples and 155 normal samples from Chungnam National University Hospital and Seoul National University Hospital. Transcriptomic quantification was determined by high-throughput RNA sequencing. We investigated the associations of clinical parameters and molecular signatures using RNA sequencing. We validated predictive biomarkers using the Cancer Genome Atlas database. Results: . Through a comparison of differentially expressed genes, gene sets, and pathways in papillary thyroid cancer compared to normal tumor-adjacent tissue, we found increased immune signaling associated with cytokines or T cells and decreased thyroid hormone synthetic pathways. In addition, patients with recurrence presented increased CD8+ T-cell and Th1-cell signatures. Interestingly, we found differentially overexpressed genes related to immune-escape signaling such as CTLA4, IDO1, LAG3, and PDCD1 in advanced papillary thyroid cancer with a low thyroid differentiation score. Fusion analysis showed that the PI3K and mitogen-activated protein kinase (MAPK) signaling pathways were regulated differently according to the RET fusion partner genes (CCDC6 or NCOA4). Finally, we identified HOXD9 as a novel molecular biomarker that predicts the recurrence of thyroid cancer in addition to known risk factors (tumor size, lymph node metastasis, and extrathyroidal extension). Conclusion . We identified a high association with immune-escape signaling in the immune-hot group with aggressive clinical characteristics among Korean thyroid cancer patients. Moreover, RET fusion differentially regulated PI3K and MAPK signaling depending on the partner gene of RET, and HOXD9 was found to be a recurrence marker for advanced papillary thyroid cancer.

Purpose: To lessen the physical, cosmetic, and psychological burden of donors, purely laparoscopic donor hepatectomy (PLDH) has been proposed as an ideal method for living donors. Our study aimed to prospectively compare the effect of PLDH and 2 other types of open living donor hepatectomy (OLDH) on postoperative pain and recovery. Methods: Sixty donors scheduled to undergo donor hepatectomy between March 2015 and November 2017 were included.Donors were divided into 3 groups by surgical technique: OLDH with a subcostal incision (n = 20), group S; OLDH with an upper midline incision (n = 20), group M; and PLDH (n = 20), group L. The primary outcomes were postoperative pain and analgesic requirement during postoperative day (POD) 3. Other variables regarding postoperative recovery were also analyzed. Results: Although pain relief during POD 3, assessed by visual analog scale (VAS) score and analgesic requirement, was similar among the 3 groups, group L showed lower VAS scores and opioid requirements than group M. Moreover, group L was associated with a rapid postoperative recovery evidenced by the shorter hospital length of stay and more frequent return to normal activity on POD 30. Conclusion This pilot study failed to verify the hypothesis that PLDH reduces postoperative pain. PLDH did not reduce postoperative pain but showed faster recovery than OLDH.

Purpose: To lessen the physical, cosmetic, and psychological burden of donors, purely laparoscopic donor hepatectomy (PLDH) has been proposed as an ideal method for living donors. Our study aimed to prospectively compare the effect of PLDH and 2 other types of open living donor hepatectomy (OLDH) on postoperative pain and recovery. Methods: Sixty donors scheduled to undergo donor hepatectomy between March 2015 and November 2017 were included.Donors were divided into 3 groups by surgical technique: OLDH with a subcostal incision (n = 20), group S; OLDH with an upper midline incision (n = 20), group M; and PLDH (n = 20), group L. The primary outcomes were postoperative pain and analgesic requirement during postoperative day (POD) 3. Other variables regarding postoperative recovery were also analyzed. Results: Although pain relief during POD 3, assessed by visual analog scale (VAS) score and analgesic requirement, was similar among the 3 groups, group L showed lower VAS scores and opioid requirements than group M. Moreover, group L was associated with a rapid postoperative recovery evidenced by the shorter hospital length of stay and more frequent return to normal activity on POD 30. Conclusion This pilot study failed to verify the hypothesis that PLDH reduces postoperative pain. PLDH did not reduce postoperative pain but showed faster recovery than OLDH.

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic exposure might lead to failure to thrive, liver failure, renal failure, and, eventually, death. HFI usually manifests in infants when they are being weaned off of breastmilk. Because HFI has an excellent prognosis when patients maintain a strict restrictive diet, some patients remain undiagnosed due to the voluntary avoidance of sweet foods. In the past, HFI was diagnosed using a fructose tolerance test, liver enzyme assays or intestinal biopsy specimens. Currently, HFI is diagnosed through the analysis of aldolase B mutations. Here, HFI was diagnosed in a 41-year-old woman who complained of sweating, nausea, and vomiting after consuming sweets. She had a compound heterozygous mutation in the aldolase B gene; gene analysis revealed pathogenic nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32) variants. This is the first report of a Korean HFI patient diagnosed in adulthood.