Genetic kidney diseases are caused by mutations in specific genes that significantly affect kidney development and function. Although the underlying pathogenic genes of many kidney diseases have been identified, an understanding of their mechanisms and effective treatments remains limited. Gene editing, particularly using clustered regularly interspaced short palindromic repeats (CRISPR), has recently become a promising approach for studying genetic diseases and the CRISPR/CRISPR-associated protein 9 (CRISPR-Cas9) method has become a prominent research method. It has been shown that CRISPR-Cas9 can be targeted to knock out specific genomic sites, which enables researchers to correct gene mutations, prevent inheritance, and better understand the function of genes and the effectiveness of drugs. However, the application of CRISPR-Cas9 technology in the development of therapeutic agents against genetic kidney disease has been overlooked compared with other genetic diseases. In this paper, we provide an overview of the current research advancements in genetic kidney diseases using CRISPR technology, as well as the diverse preclinical research methods implemented, with particular emphasis on autosomal dominant polycystic kidney disease.

Background: Hypercalcemia of malignancy (HCM), a major metabolic complication of cancer, is often managed with bisphosphonates (BP) and, increasingly, with denosumab. We aimed to compare the effectiveness and safety of denosumab with that of BP, with or without calcitonin, in treating HCM. Methods: This retrospective cohort study was conducted at a tertiary hospital from 2017 to 2022 and included 317 patients treated for HCM. Participants were divided into three treatment groups: denosumab, intravenous (IV) BP only, and IV BP combined with calcitonin. The primary outcomes measured were changes in calcium levels and the incidence of hypocalcemia. Analysis of covariance was used to adjust for age, sex, body mass index, creatinine level, type of malignancy, and the use of furosemide and steroids. Results: The mean participant age was 65 years, and 37.5% were female. After adjustment, both denosumab and IV BPs were found to effectively lower calcium levels. Denosumab led to a decrease of 2.0 mg/dL (−15.9%), while IV BP alone resulted in a reduction of 1.8 mg/dL (−13.9%). The largest reduction, of 2.7 mg/dL (−20.9%), occurred with IV BP and calcitonin. Both denosumab and IV BP+calcitonin yielded their lowest calcium levels within 48 hours, whereas the IV BP only group reached a nadir within 72 hours. Despite these differences in treatment effectiveness, hypocalcemia occurred significantly less frequently in the denosumab group compared to the other groups. Conclusion Denosumab and IV BP were similarly effective in reducing calcium levels. However, IV BP combined with calcitonin yielded a more rapid and pronounced decrease.

Purpose: Breast cancer gene (BRCA) mutation is a well-known risk factor for breast cancer, and clinical interest in prophylactic mastectomy has increased in recent years.We investigated patients who were BRCA mutation carriers and underwent contralateral risk-reducing mastectomy (RRM), focusing on the incidence of occult malignancy after contralateral RRM. Methods: Prospectively collected data of patients with breast cancer treated at a single institution were retrospectively reviewed. Patients who underwent RRM with BRCA mutation who underwent RRM between January 2010 and November 2023 were included in this study.Among patients who underwent contralateral RRM, those with a primary cancer diagnosis were included, and those with occult malignancy on the contralateral RRM side were reviewed additionally. The demographics and pathologies of both primary breast cancer and occult malignancies were evaluated. Results: In our institution, 925 patients were identified as BRCA mutation carriers, and 320 patients underwent contralateral RRM along with primary breast cancer surgery. BRCA2 mutation occurred more frequently (54.8%) in the overall BRCA mutation cohort. Furthermore, we reviewed 320 patients diagnosed with breast cancer and detected as BRCA mutation carriers who underwent contralateral RRM; high proportion of them were BRCA1 mutation carriers.Interestingly, we found a low incidence of only seven patients (2.2%) with occult malignancy on contralateral RRM side, which is different from that reported in other nations. Conclusion The incidence of occult malignancy in the contralateral breast of breast cancer patients with breast cancer with BRCA mutation is significantly low, and may be influenced by several factors. Increased utilization of screening and advancements in diagnostic technologies in South Korea have reduced the chance of occult malignancy in RRM, and a variety of pathologic examination methods may affect the rate of incidence.

Objective: : Palliative care is a specialized approach designed to enhance the quality of life for both patients and their families, offering patient-centered care through comprehensive assessment and care planning. However, the integration of palliative care within neurocritical care settings has been relatively understudied. This descriptive study aims to identify the characteristics, palliative care needs, and outcomes of patients referred to palliative care services during admission to the neurosurgical intensive care unit (NS-ICU). Methods: : A retrospective analysis of adults admitted to the NS-ICU at a referral hospital between December 2019 and December 2021 was conducted. The study focused on those referred to the inpatient palliative care team with diagnoses of non-traumatic brain hemorrhage, traumatic brain injury, or brain neoplasm. Excluded were patients who died before palliative care consultation or lacked sufficient information. The investigation assessed demographic and clinical characteristics at consultation, along with post-consultation hospital outcomes derived from medical records and interview notes. Results: : In this study involving 38 enrolled patients, the median age was 65, with 42.1% females. The most prevalent diagnosis was nontraumatic brain hemorrhage (47.4%). Reasons for palliative care consultation included psychosocial support (95%), goal-of-care discussions (68%), decision-making support (50%), and communication facilitation (39%). The median time from NS-ICU admission to consultation was 3.5 days (interquartile range, 1–8 days), and all interviews involved family members. Key decision topics encompassed mechanical ventilation (23.7%) and tracheostomy (21.1%). Patient preferences for life-sustaining treatment could be estimated in only 47.4% of cases, often resulting in treatment disagreement. Among the 38 patients, 26 (68.4%) died during admission. Before the consultation, full code status, partial code status, and comfort care alone were reported as 32%, 66%, and 2%, respectively; post-consultation, these figures shifted to 11%, 42%, and 47%, respectively. Conclusion : Palliative care was predominantly sought for psychosocial support and discussions concerning goals of care. Despite challenges in ascertaining patient treatment preferences, palliative care consultations proved invaluable in aiding family members and facilitating treatment decision-making. Our study suggests the potential integration of palliative care within neuro-critical care, contributing to a heightened utilization of comfort care at the end-of-life.

Background: Improving β-cell function can lead to remission in some patients with type 2 diabetes mellitus (T2DM). However, research on pharmacotherapy-induced remission in youth-onset T2DM remains scarce. Our study aimed to identify the clinical characteristics of pediatric patients who experience remission. Methods: We retrospectively reviewed 88 pediatric patients with T2DM followed for at least 1 year at Seoul National University Bundang Hospital between 2013 and 2023. Remission was defined as a glycosylated hemoglobin (HbA1c) level less than 6.5% for at least 3 months after ceasing glucose-lowering pharmacotherapy. Results: Among 88 patients (60 males, 68.2%) diagnosed at an average age of 14.4±2.1 years, 19 patients (21.6%) achieved remission after a median duration of 1.4 years. The remission group had a larger proportion of males (89.5% vs. 62.3%, P=0.024) and a lower urinary albumin-to-creatinine ratio (ACR) at diagnosis (P=0.011). They also showed lower HbA1c levels at 1 year and more significant changes in HbA1c and body mass index (all P<0.05). Higher urinary ACR levels correlated with a longer duration to achieve remission (hazard ratio, 0.928; P= 0.013). In three of the 19 remission patients (15.8%), recurrence occurred after a median of 1.5 years. Conclusion Among Korean youth with T2DM, 21.6% achieved remission after a median duration of 1.4 years.Those who experienced remission were predominantly male, had lower ACR at diagnosis, and had significant weight loss within the first year. Further investigation into the factors influencing remission and long-term outcomes is essential.

Objectives: We analyzed the demographic and clinical characteristics of patients diagnosedwith coronavirus disease 2019 (COVID-19), focusing specifically on severe/critical cases, andassessed the trends and rates of severity and fatality among these patients in the Republic of Korea. Methods: Clinical data on patients with COVID-19 from January 20, 2020 to August 30, 2023were collected from the Korea Disease Control and Prevention Agency’s database. We identified patients who progressed to severe/critical conditions and analyzed their demographic and clinical profiles. Severity and fatality rates were calculated and compared annually to track thedisease progression over time. Results: During the surveillance period, 34,572,554 COVID-19 cases were confirmed, among whom 38,112 (0.11%) progressed to severe/critical conditions. Most severe/critical cases occurred in individuals aged ≥60 years, with a notable increase in patients aged ≥80 years from 2022.The overall severity rate was 0.19%, with a fatality rate of 0.10%. However, the severity of cases gradually diminished during the study period. In 2022, the severity and fatality rates decreased to 0.14% and 0.09%, respectively. In 2023, while the severity rate remained stable at 0.15%, thefatality rate further decreased to 0.06%. Notably, throughout the study period, individuals aged ≥80 years had a significantly higher severity rate (2.44%), with a fatality rate of 1.75%. Conclusion These findings underscore the importance of prioritizing protection and management strategies for older adults and high-risk groups to mitigate the impact ofCOVID-19. Continued surveillance and analysis are essential to effectively control COVID-19 and minimize its burden on public health.

Patients with ectodermal dysplasia often have atrophied alveolar bone and an inadequate maxillomandibular relationship owing to congenital edentulism.Accurate implant placement that can overcomes anatomical limitations and orthognathic surgery to improve the maxillomandibular relationship is necessary for creating implant-supported prosthesis for these patients. Implant placement and provisional prosthesis fabrication before orthognathic surgery can provide critical fixed reference points and ensure accuracy during orthognathic surgery.In our patient, a digital system was used to design a surgical guide that considered the predictable position of the definitive prosthesis, allowing the placement of implants to overcome anatomical limitations and the creation of fixed reference points via the delivery of a provisional prosthesis for effective orthognathic surgery. The lack of compensation during orthognathic surgery was considered in the definitive prosthesis. As a result, a prosthesis with a minimal anterior cantilever was fabricated. This study aimed to determine the appropriate sequence of multidisciplinary collaborations that would, result in the best functional and aesthetic outcomes.

Objectives: We analyzed the demographic and clinical characteristics of patients diagnosedwith coronavirus disease 2019 (COVID-19), focusing specifically on severe/critical cases, andassessed the trends and rates of severity and fatality among these patients in the Republic of Korea. Methods: Clinical data on patients with COVID-19 from January 20, 2020 to August 30, 2023were collected from the Korea Disease Control and Prevention Agency’s database. We identified patients who progressed to severe/critical conditions and analyzed their demographic and clinical profiles. Severity and fatality rates were calculated and compared annually to track thedisease progression over time. Results: During the surveillance period, 34,572,554 COVID-19 cases were confirmed, among whom 38,112 (0.11%) progressed to severe/critical conditions. Most severe/critical cases occurred in individuals aged ≥60 years, with a notable increase in patients aged ≥80 years from 2022.The overall severity rate was 0.19%, with a fatality rate of 0.10%. However, the severity of cases gradually diminished during the study period. In 2022, the severity and fatality rates decreased to 0.14% and 0.09%, respectively. In 2023, while the severity rate remained stable at 0.15%, thefatality rate further decreased to 0.06%. Notably, throughout the study period, individuals aged ≥80 years had a significantly higher severity rate (2.44%), with a fatality rate of 1.75%. Conclusion These findings underscore the importance of prioritizing protection and management strategies for older adults and high-risk groups to mitigate the impact ofCOVID-19. Continued surveillance and analysis are essential to effectively control COVID-19 and minimize its burden on public health.

Patients with ectodermal dysplasia often have atrophied alveolar bone and an inadequate maxillomandibular relationship owing to congenital edentulism.Accurate implant placement that can overcomes anatomical limitations and orthognathic surgery to improve the maxillomandibular relationship is necessary for creating implant-supported prosthesis for these patients. Implant placement and provisional prosthesis fabrication before orthognathic surgery can provide critical fixed reference points and ensure accuracy during orthognathic surgery.In our patient, a digital system was used to design a surgical guide that considered the predictable position of the definitive prosthesis, allowing the placement of implants to overcome anatomical limitations and the creation of fixed reference points via the delivery of a provisional prosthesis for effective orthognathic surgery. The lack of compensation during orthognathic surgery was considered in the definitive prosthesis. As a result, a prosthesis with a minimal anterior cantilever was fabricated. This study aimed to determine the appropriate sequence of multidisciplinary collaborations that would, result in the best functional and aesthetic outcomes.

Genetic kidney diseases are caused by mutations in specific genes that significantly affect kidney development and function. Although the underlying pathogenic genes of many kidney diseases have been identified, an understanding of their mechanisms and effective treatments remains limited. Gene editing, particularly using clustered regularly interspaced short palindromic repeats (CRISPR), has recently become a promising approach for studying genetic diseases and the CRISPR/CRISPR-associated protein 9 (CRISPR-Cas9) method has become a prominent research method. It has been shown that CRISPR-Cas9 can be targeted to knock out specific genomic sites, which enables researchers to correct gene mutations, prevent inheritance, and better understand the function of genes and the effectiveness of drugs. However, the application of CRISPR-Cas9 technology in the development of therapeutic agents against genetic kidney disease has been overlooked compared with other genetic diseases. In this paper, we provide an overview of the current research advancements in genetic kidney diseases using CRISPR technology, as well as the diverse preclinical research methods implemented, with particular emphasis on autosomal dominant polycystic kidney disease.