Yonsei Medical Journal

This corrects the article on p. 948 in vol. 63, PMID: 36168248.

This corrects the article on p. 1067 in vol. 60, PMID: 31637889.

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders caused by defects in biliary epithelial transporters. It mostly presents as low γ-glutamyltransferase cholestasis. Recently, USP53 has been identified as one of the novel genes associated with PFIC. Herein, we report a 21-year-old Korean male patient with a late-onset PFIC. Initial work-up, including whole genome sequencing, did not find any associated gene. However, reviewing sequencing data identified novel compound heterozygous variants in splicing site of USP53 (NM_001371395...

PURPOSE: Predicting human papillomavirus (HPV) status is critical in oropharyngeal squamous cell carcinoma (OPSCC) radiomics. In this study, we developed a model for HPV status prediction using magnetic resonance imaging (MRI) radiomics and 18 F-fluorodeoxyglucose (18 F-FDG) positron emission tomography (PET)/computed tomography (CT) parameters in patients with OPSCC. MATERIALS AND METHODS: Patients with OPSCC who underwent 18 F-FDG PET/CT and contrast-enhanced MRI before treatment between January 2012 and February 2020 were enrolled...

PURPOSE: Clamshell incision offers excellent exposure and access to the pleural spaces and is a standard incision for lung transplantation. However, due to its high sternal complication rate, the clamshell incision is considered a procedure that requires improvement. In this study, we aimed to investigate the outcomes of transverse sternotomy with clamshell incision in comparison to sternum-sparing bilateral anterolateral thoracotomy (BAT). MATERIALS AND METHODS: In total, 134 bilateral sequential lung transplants were performed from May 2013 to June 2022...

PURPOSE: Fractional microneedle radiofrequency (FMR) systems are used to treat inflammatory acne and scarring. Nonetheless, few controlled studies have combined this treatment with the traditional ablative fractional laser (AFL). We aimed to assess the safety and efficacy of the combination of FMR and AFL versus AFL alone in treating acne and acne scars. MATERIALS AND METHODS: In this 20-week, randomized, split-face study, 23 Korean patients with facial acne and acne scars underwent FMR and AFL treatments...

PURPOSE: Delirium in the intensive care unit (ICU) poses a significant safety and socioeconomic burden to patients and caregivers. However, invasive interventions for managing delirium have severe drawbacks. To reduce unnecessary interventions during ICU hospitalization, we aimed to investigate the features of delirium among ICU patients according to the occurrence of hypoactive symptoms, which are not expected to require invasive intervention. MATERIALS AND METHODS: Psychiatrists assessed all patients with delirium in the ICU during hospitalization...

PURPOSE: To analyze the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) type I with chronic respiratory failure. MATERIALS AND METHODS: We retrospectively reviewed seven patients diagnosed with SMA type I and chronic respiratory failure who were on permanent ventilation and treated with nusinersen at Gangnam Severance Hospital between January 2018 and July 2023. Patient demographics and clinical characteristics were recorded, and treatment progress was evaluated according to Hammersmith Infant Neurological Examination (HINE-2) and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores...

PURPOSE: To assess the drug retention rate of interleukin-17 inhibitors (IL-17is) over long-term observation in patients with axial spondyloarthritis (axSpA) in whom treatment with tumor necrosis factor inhibitors (TNFis) failed and to determine baseline factors associated with discontinuation of IL-17is. MATERIALS AND METHODS: This retrospective cohort study included 68 patients with axSpA started on IL-17is after an inadequate response or intolerance to ≥1 TNFis...

Pregnancy has been shown to be associated with an adverse clinical course and symptomatic patients with severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection. Extracorporeal membrane oxygenation (ECMO) is rarely used in pregnant or postpartum women with severe coronavirus disease 2019 (COVID-19). Here, we report the rare case of a pregnant woman diagnosed with SARS-CoV-2 infection placed on ECMO postpartum who subsequently received treatment for active rectal ulcer bleeding. Despite being placed on ECMO for 38 days and receiving a massive transfusion of 95 packs of red blood cells, she recovered and was discharged on hospital day 112...

Acute ascending hemorrhagic longitudinally extensive transverse myelitis is a rare inflammatory demyelinating disorder, which invades several vertebral segments and progresses rapidly and manifests severe symptoms. We present a case of acute necrotizing myelitis associated with COVID-19 infection. A 10-year-old female, with no previous medical history and no prior administration of COVID-19 vaccination, contracted COVID-19 in early April 2022. Two weeks later, she suffered from severe posterior neck pain and also presented with motor weakness and numbness in both lower extremities, making it difficult to walk independently and spontaneously void urine...

PURPOSE: This study aimed to identify the risk factors associated with the occurrence and prognosis of hypertrophic scarring following thyroidectomy. MATERIALS AND METHODS: A total of 4238 patients who underwent thyroidectomy were included in this study. A multivariable logistic regression model was developed to identify the risk factors for hypertrophic scar development and its prognosis. RESULTS: Our analysis revealed that hypertrophic scar development was associated with younger age [odds ratio (OR)=0...

PURPOSE: The appropriate evaluation of height and accurate estimation of bone age are crucial for proper assessment of the growth status of a child. We developed a bone age estimation program using a deep learning algorithm and established a model to predict the final adult height of Korean children. MATERIALS AND METHODS: A total of 1678 radiographs from 866 children, for which the interpretation results were consistent between two pediatric endocrinologists, were used to train and validate the deep learning model...

PURPOSE: This study aimed to compare the clinical features of panic disorder (PD) with comorbid agoraphobia to those of PD alone. We focused on autonomic nervous system (ANS) alterations reflected in heart rate variability (HRV) and executive function deficits reflected in the Stroop test. MATERIALS AND METHODS: We retrospectively compared psychometric features, Stroop test results, and resting-state HRV across three groups: a subclinical group with anxiety attack history, a PD group without agoraphobia, and a PD group with agoraphobia...

PURPOSE: To analyze prognostic factors associated with ureteral stent failure and to develop a prediction model for malignant ureteral obstruction (MUO) in patients with non-urological cancers. MATERIALS AND METHODS: We retrospectively reviewed patients with non-urological cancers who underwent ureteral stenting or percutaneous nephrostomy (PCN) for MUO between 2006 and 2014. Variables predicting stent failure were identified using Cox regression analysis. RESULTS: Of the 743 patients, 468 (63...

PURPOSE: Differences in the impact of obesity and metabolic health status on the risk of gallbladder polyp (GBP) remain uncertain. Herein, we aimed to compare the risk of GBP ≥5 mm among individuals with different phenotypes based on obesity and metabolic health status. MATERIALS AND METHODS: A cohort of 253485 asymptomatic adults who underwent abdominal ultrasonography screening were categorized into the following four groups according to obesity and metabolic health status: 1) metabolically healthy non-obese (MHNO), 2) metabolically unhealthy and non-obese (MUNO), 3) metabolically healthy but obese (MHO), and 4) metabolically unhealthy obese (MUO)...

PURPOSE: The model for end-stage liver disease (MELD) 3.0 has recently been suggested for determining liver allocation. We aimed to apply MELD 3.0 to a Korean population and to discover differences between patients with and without hepatocellular carcinoma (HCC). MATERIALS AND METHODS: This study is a retrospective study of 2203 patients diagnosed with liver cirrhosis at Severance Hospital between 2016-2022. Harrell's concordance index was used to validate the ability of MELD scores to predict 90-day survival...

Primary amebic meningoencephalitis (PAM) is a rare, but almost always fatal, central nervous system infection caused by Naegleria fowleri , which are thermophilic free-living amoeba. Here, we report the first case of PAM detected in South Korea, probably imported from Thailand. Despite antimicrobial treatment for N. fowleri infection with a combination of intravenous liposomal amphotericin B, fluconazole, azithromycin, and oral rifampin, the patient died 13 days after the onset of symptoms. Clinicians in South Korea treating severe meningoencephalitis, especially in individuals returning from tropical areas, are encouraged to include PAM in the differential diagnoses, given the accelerated global warming and increased overseas trips...

PURPOSE: To compare the prognosis of patients with axillary adenocarcinoma from an unknown primary (ACUPax) origin with negative MRI results and those with MRI-detected primary breast cancers. MATERIALS AND METHODS: The breast MRI images of 32 patients with ACUPax without signs of primary breast cancer on mammography and ultrasound (US) were analyzed. Spot compression-magnification mammography and second-look US were performed for the area of MRI abnormality in patients with positive results; any positive findings corresponding to the MRI abnormality were confirmed by biopsy...

PURPOSE: Type 2 diabetes mellitus (T2DM) is associated with a 2-fold increased risk of developing Alzheimer's disease. In earlier research, agmatine has been demonstrated to alleviate diabetes symptoms and increase cognitive performance. However, it is unclear whether the improvement of cognitive function is attributable to the reduction of diabetic symptoms or its direct influence on brain metabolism. Using hyperpolarized (HP) [1-13 C]pyruvate magnetic resonance spectroscopy (MRS), this study intends to evaluate the influence of agmatine on brain metabolism...