Background: Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non–small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detecting T790M mutations. This study compared tissue- and plasma-based EGFR testing methods. Methods: A total of 248 patients were tested for EGFR mutations using tissue and plasma samples from 2018 to 2023 at Pusan National University Yangsan Hospital. Tissue tests were performed using PANAmutyper, and plasma tests were performed using the Cobas EGFR Mutation Test v2. Results: All 248 patients underwent tissue-based EGFR testing, and 245 (98.8%) showed positive results. Of the 408 plasma tests, 237 (58.1%) were positive. For the T790M mutation, tissue biopsies were performed 87 times in 69 patients, and 30 positive cases (38.6%) were detected. Plasma testing for the T790M mutation was conducted 333 times in 207 patients, yielding 62 positive results (18.6%). Of these, 57 (27.5%) were confirmed to have the mutation via plasma testing. Combined tissue and plasma tests for the T790M mutation were positive in nine patients (13.4%), while 17 (25.4%) were positive in tissue only and 12 (17.9%) in plasma only. This mutation was not detected in 28 patients (43.3%). Conclusions Although the tissue- and plasma-based tests showed a sensitivity of 37.3% and 32.8%, respectively, combined testing increased the detection rate to 56.7%. Thus, neither test demonstrated superiority, rather, they were complementary.

Background: Distal nerve block approaches have been explored to reduce hemidiaphragmatic paresis (HDP) more effectively than interscalene block (ISB). However, these approaches are associated with a high incidence of HDP. The costoclavicular block (CCB) provides effective analgesia while reducing HDP. Here, we hypothesized that CCB would decrease the incidence of HDP compared to ISB while still providing effective pain relief after surgery. Methods: Seventy patients who underwent arthroscopic rotator cuff repair were randomly allocated to receive either ultrasound-guided CCB (n = 35) or ISB (n = 35). Each group received 0.2% ropivacaine (20 ml CCB, 10 ml ISB). The primary outcome was the incidence of HDP, as measured using M-mode ultrasound. Diaphragmatic excursion, pulmonary function test results, opioid consumption, and pain scores were evaluated. Results: Sixty-six patients were included. CCB group had a significantly lower incidence of HDP than those in the ISB group (5.9% vs. 84.4%, P < 0.001). The diaphragmatic excursion reduction was significantly more in the ISB (3.87 cm) group than in the CCB (0.25 cm) group (P < 0.001). The decrease in forced vital capacity and forced expiratory volume in 1 s from baseline was significantly greater in the ISB. There was no significant difference in opioid consumption between the two groups during the entire postoperative period. Conclusions Compared with ISB, CCB significantly reduced the incidence of HDP while maintaining effective analgesia and causing less pulmonary function impairment. CCB may be a viable option for diaphragmatic-sparing analgesia after shoulder surgery.

Secondary dyslipidemia, characterized by elevated blood cholesterol and triglycerides, arises from various underlying conditions. The identification and appropriate handling of these causes is crucial for effective treatment. Major contributors include unhealthy diets, diseases impacting lipid metabolism, and medication side effects. Prioritizing the correction of secondary causes before initiating conventional lipid-lowering therapies is essential. Subsequent lipid profiles guide the selection of appropriate guideline-based lipid-lowering interventions.

Secondary dyslipidemia, characterized by elevated blood cholesterol and triglycerides, arises from various underlying conditions. The identification and appropriate handling of these causes is crucial for effective treatment. Major contributors include unhealthy diets, diseases impacting lipid metabolism, and medication side effects. Prioritizing the correction of secondary causes before initiating conventional lipid-lowering therapies is essential. Subsequent lipid profiles guide the selection of appropriate guideline-based lipid-lowering interventions.

This study aimed to investigate the dental utilization status, satisfaction with dental treatment, and the need for improvement among pediatric patients with rare diseases in Korea. A survey was conducted from June 2023 to May 2024 among caregivers of patients with rare diseases who visited the pediatric dentistry departments of eight dental institutions. The questionnaire for this study was divided into two sections: 126 caregivers participated in the dental utilization survey, while 91 caregivers completed the survey on satisfaction with dental treatment. Many caregivers believed that the patient’s poor oral health could impact overall health and reported positive functional and psychological changes following dental treatment. However, dental care for these patients presents challenges due to insufficient oral care information, specialized dentists, specialized dental facilities, and insurance coverage. Caregivers identified the need for an increase in specialized dental facilities as the highest priority (42.9%), with many emphasizing the necessity for expanded insurance coverage (38.9%). Notably, caregivers of patients who had undergone dental caries treatment advocated for broader insurance coverage (p = 0.0141), particularly for prosthetic (p = 0.0330) and restorative treatments (p = 0.0129). Furthermore, caregivers of patients with congenital disorders reported a significant economic burden associated with orthodontic treatment (p = 0.0405). Additionally, caregivers emphasized the need for an increase in specialized dentists (33.3%) and improved collaboration with pediatricians (25.4%). This study underscores the critical necessity for tailored policies and comprehensive support systems that reflect the current needs of the dental care system for pediatric patients with rare diseases.

Purpose: To confirm the clinical features of hemicentral retinal vein occlusion and identify predictors of visual outcomes. Methods: A retrospective analysis was conducted on patients diagnosed with hemicentral retinal vein occlusion between January 2018 and December 2022 and followed for more than 6 months. Patients underwent intravitreal injections as necessary for intraretinal edema. Visual acuity, central macular thickness, ellipsoid zone damage, and the location of inner retinal layer edema were assessed. Patients were categorized into groups A and group B based on the visual acuity at 6 months. Results: In total, 20 eyes were followed, with 15 eyes observed for up to 12 months. Seven patients (35.0%) had diabetes and 11 (55.0%) had hypertension. There was a correlation between poor vision at 6 months and hypertension (p = 0.033). The visual acuity of all patients improved from a logMAR of 0.96 at the initial visit to a logMAR of 0.35 at 6 months (p = 0.005). In the group with good initial visual acuity, there were no significant changes in visual acuity during the follow-up period (p = 0.444). The group with good visual acuity at 6 months had a lower degree of photoreceptor ellipsoid zone disruption compared to the group with poor initial vision, indicating a normal structure (p = 0.015). Conclusions During follow-up of patients with hemicentral retinal vein occlusion, overall visual acuity improved over time. Patients with good initial acuity maintained it. Favorable visual outcomes can be expected if the ellipsoid zone has a normal structure at the time of the first examination.

Purpose: We report a case of bilateral nasal and temporal four-site scleromalacia following cosmetic conjunctivectomy, successfully managed with simultaneous restoration surgery at all four sites using autologous tragal perichondrium and preserved scleral graft.Case summary: A 56-year-old woman who underwent cosmetic conjunctivectomy on both eyes 15 years earlier, presented with intermittent eye pain. Examination revealed scleromalacia with calcium plaques in all four nasal and temporal scleral areas. The most extensive avascular area was in the nasal region of the right eye, and the most prominent uveal exposure was in the nasal area of the left eye. Considering the lesion and exposure sizes of the avascular zone and uvea exposure, preserved sclera was transplanted to the temporal and nasal areas of the right eye, while autologous tragal perichondrium was transplanted to the nasal area of the left eye. Tenon's capsule vessels were fixed with pedicle flaps in all four surgical areas for vascularization. Frozen amniotic membrane was transplanted in the nasal area of the left eye, where the conjunctival defect was substantial, and in the lateral area of the left eye, where no graft was used. The conjunctival epithelium was closed using autologous conjunctival flaps in all four areas. Post-surgery, successful engraftment and vascularization of the graft materials were observed in both eyes. Conclusions Even with multiple areas of scleromalacia in both eyes, successful results can be achieved during simultaneous surgery if an appropriate graft material is selected and the surgery is performed utilizing principles of tissue restoration.

Purpose: To present a case of recurrent Nocardia keratitis following the use of topical steroids.Case summary: A 57-year-old man presented with decreased visual acuity and conjunctival injection in the right eye which began 15 days prior. Slit-lamp examination revealed epithelial defects smaller than the circular infiltrate and empirical topical treatment was initiated. Since the corneal lesion improved with a therapeutic contact lens and topical antibiotics, a steroid eye drop was added. After 7 days, the corneal infiltrate worsened in a wreath-like pattern with a positive result on a KOH (potassium hydroxide) smear, and antifungal eye drops were started. However, Nocardia species was confirmed on the 9th day of culture. While complete epithelial regeneration was achieved after 10 days using amikacin eye drops, steroid eye drops were reused to reduce the corneal haze. Twenty days later, the corneal infiltrate and epithelial defects reappeared adjacent to the initial opacity, and a culture confirmed Nocardia. Gradual improvement was achieved with amikacin eye drops and oral Septrin. Ultimately, a combination of moxifloxacin, tobramycin, and bromfenac eye drops was tapered over several months, resulting in healing with mild opacity. Conclusions Nocardia keratitis commonly arises from trauma involving soil, progresses slowly, and is often misdiagnosed as a fungal infection. While amikacin eye drops proved effective, prolonged topical treatment is essential. Early steroid use should be considered cautiously, as it may lead to recurrence and worsening of the corneal lesion.

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria and polydipsia, high serum osmolality, and low urine osmolality because of resistance to antidiuretic hormone. Lithium is commonly used to treat psychiatric disorders, and NDI is one of the common renal side effects of lithium therapy. On the other hand, NDI induced by lithium medication in a patient after a coronavirus disease-19 (COVID-19) infection has not been reported. This paper presents a patient who developed new-onset NDI secondary to a COVID-19 infection despite being on a stable lithium dose for several years. This case highlights the importance of considering a COVID-19 infection as a possible cause of NDI in patients taking lithium medication.

Purpose: This study analyzed the pathological complete response (pCR) rates, long-term outcomes, and biological features of human epidermal growth factor receptor 2 (HER2)-zero, HER2-low, and HER2-positive breast cancer patients undergoing neoadjuvant treatment. Methods: This single-center study included 1,667 patients who underwent neoadjuvant chemotherapy from 2008 to 2014. Patients were categorized by HER2 status, and their clinicopathological characteristics, chemotherapy responses, and recurrence-free survival (RFS) rates were analyzed. Results: Patients with HER2-low tumors were more likely to be older (p = 0.081), have a lower histological grade (p < 0.001), and have hormone receptor (HorR)-positive tumors (p < 0.001). The HER2-positive group exhibited the highest pCR rate (23.3%), followed by the HER2-zero (15.5%) and HER2-low (10.9%) groups. However, the pCR rate did not differ between HER2-low and HER2-zero tumors in the HorR-positive or HorR-negative subgroups.The 5-year RFS rates increased in the following order: HER2-low, HER2-positive, and HER2-zero (80.0%, 77.5%, and 74.5%, respectively) (log-rank test p = 0.017). A significant survival difference between patients with HER2-low and HER2-zero tumors was only identified in HorR-negative tumors (5-year RFS for HER2-low, 74.5% vs. HER2-zero, 66.0%; log-rank test p-value = 0.04). Multivariate survival analysis revealed that achieving a pCR was the most significant factor associated with improved survival (hazard ratio [HR], 4.279; p < 0.001).Compared with HER2-zero, the HRs for HER2-low and HER2-positive tumors were 0.787 (p = 0.042) and 0.728 (p = 0.005), respectively. After excluding patients who received HER2-targeted therapy, patients with HER2-low tumors exhibited better RFS than those with HER2-zero (HR 0.784, p = 0.04), whereas those with HER2-positive tumors exhibited no significant difference compared with those with HER2-low tumors (HR, 0.975; p = 0.953). Conclusion Patients with HER2-low tumors had no significant difference in pCR rate compared to HER2-zero but showed better survival, especially in HorR-negative tumors.Further investigation into biological differences is warranted.