Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Mutational dysphonia, a condition in which a pre-adolescent voice persists into adulthood, can significantly impact personal and professional life but is treatable with voice therapy. A patient with mutational dysphonia usually has a voice that is weak, breathy, or diplophonic, often classified as a “falsetto” voice. In this case report, we present a 20-year-old male who had a typical voice of a boy before adolescence, making it difficult to diagnose as mutational dysphonia. After voice therapy, he successfully gained his post-adolescent voice, highlighting the importance of thorough diagnosis and personalized treatment for mutational dysphonia.

Background: Though accumulating evidence suggests an association between childhood trauma and anhedonia, further analysis is needed to consider specific traumatic dimensions, both traits and state anhedonia, and the role of circulating proteins. Therefore, this study investigated the association between different types of childhood traumas and their influence on anhedonia-related symptoms, and to evaluate the influence of anhedonia traits and plasma proteins as mediators. Methods: This study included 170 patients with schizophrenia, bipolar disorder, major depressive disorder, and healthy controls aged 19–65 years. Multiple reaction monitoring was performed to quantify plasma proteins, and 464 proteins were analyzed. The association between childhood trauma dimensions, anhedonic traits, and related symptoms was analyzed with linear regression. A series of mediation analyses was performed to determine whether anhedonic traits and plasma proteins mediated the association between childhood trauma and anhedonia-related symptoms. Results: Childhood emotional neglect was significantly associated with anhedonic traits and anhedonia-related symptoms. Mediation analysis revealed that the indirect effect of anhedonic traits for childhood emotional neglect on anhedonia-related symptoms (effect = 0.037; bias-corrected CI, 0.009 to 0.070) was statistically significant. The indirect effect of plasma TNR5 for anhedonic traits on anhedonia-related symptoms was statistically significant (effect = −0.011; bias-corrected CI, −0.026 to −0.002). Serial mediation analysis revealed that the indirect effect of childhood emotional neglect on anhedonia-related symptoms via anhedonic traits and TNR5 was statistically significant (effect = 0.007; biascorrected CI, 0.001 to 0.017). Conclusion Anhedonic traits and plasma TNR5 protein levels serially mediated the association between childhood emotional neglect and anhedonia-related symptoms.The study highlights the importance of considering both psychopathological traits and biological correlates when investigating the association between childhood trauma and psychopathological symptoms.

Mutational dysphonia, a condition in which a pre-adolescent voice persists into adulthood, can significantly impact personal and professional life but is treatable with voice therapy. A patient with mutational dysphonia usually has a voice that is weak, breathy, or diplophonic, often classified as a “falsetto” voice. In this case report, we present a 20-year-old male who had a typical voice of a boy before adolescence, making it difficult to diagnose as mutational dysphonia. After voice therapy, he successfully gained his post-adolescent voice, highlighting the importance of thorough diagnosis and personalized treatment for mutational dysphonia.

Purpose: Ultrasound-guided nerve hydrodissection has emerged as a potential non-surgical treatment for carpal tunnel syndrome (CTS). The objective of this research was to offer suggestions for optimizing injectables utilized in hydrodissection for the treatment of CTS through a systematic review and network meta-analysis. Materials and Methods: PubMed, MEDLINE, EMBASE, Cochrane, Scopus, and Web of Science were searched through April 25, 2024. Effect sizes were quantified using standard mean differences within a random-effects model. Effectiveness ranking for each treatment was expressed as the surface under the cumulative ranking curve (SUCRA). Results: Nine studies with 458 patients with CTS were included. According to SUCRA, 5% dextrose (DW) was the most effective option for the Boston Carpal Tunnel Questionnaire (BCTQ) function at 99.9, 89.8, and 88.8 at 4, 12, and 24 weeks, respectively; for BCTQ symptoms, 5% DW was the most effective option at 99.9 at 4 weeks and platelet-rich plasma at 95.7 and 93.9 at 12 and 24 weeks, respectively. In terms of both BCTQ symptoms and BCTQ function, the 5 cc injection was the most effective, with SUCRA values of 99.5 for both categories. However, the effectiveness of the electrodiagnostic assessment and ultrasound variables was dependent on the type and dose of medication. Conclusion Administration of 5% DW showed better results in terms of initial symptom relief and long-term functional recovery compared to other agents, while platelet-rich plasma showed greater long-term symptom improvement; an injection dose of 5 cc showed the greatest benefit. However, additional research is required to establish precise protocols based on disease severity.

Endometriosis, a prevalent but debilitating condition affecting women, poses significant challenges in diagnosis and management. The current 2024 guideline, developed by the Korean Society of Endometriosis (KSE), builds upon the 2018 KSE guideline. This guideline aims to provide customized recommendations tailored to Korea’s unique clinical aspects and medical environment, and addresses key areas such as diagnosis, medical and surgical management, considerations for special populations, and its complex relationship with cancer.

Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Background and Objectives: Age-related hearing loss is a modifiable risk factor for mild cognitive impairment (MCI); however, the potential mechanisms linking these conditions remain unclear. Therefore, in this study, we analyzed the cognitive function profiles of elderly patients with hearing loss via functional near-infrared spectroscopy (fNIRS) to determine the cortical activity differences between patients at risk of MCI and those with normal cognition. Materials and Methods: Sixty-three elderly patients with bilateral, moderate, or severe hearing loss were prospectively recruited for this study. Their demographic information was obtained, and audiological evaluations and cognitive function tests were performed. Various instruments were used to assess the cognitive and depression domains. Additionally, fNIRS was used to image the brains of the normal group and group at risk of MCI. Results: fNIRS analysis of individual cognitive task data revealed that the normal group exhibited significantly higher oxygenated hemoglobin (HbO2) levels in all cognitive function tasks, except the Stroop color and word test, than the group at risk of MCI. Detailed comparisons of the Brodmann areas revealed that, compared to the group at risk of MCI, normal group exhibited significantly higher HbO2 levels in the right and left dorsolateral prefrontal cortices, ventrolateral prefrontal cortex, frontopolar cortex, and orbitofrontal cortex in the J1 task, right ventrolateral prefrontal cortex in the J2 task, and right orbitofrontal cortex in the J6 task. Conclusions Measurement of fNIRS signals in the frontal lobes revealed different HbO2 signals between the normal group and group at risk of MCI during minimal hearing loss. Future studies should explore the causal link between hearing loss and cognitive impairment by analyzing the changes in cognitive function after auditory rehabilitation.

Background: Given the association between nonalcoholic fatty liver disease and metabolic risks, a new term, metabolic dysfunction- associated steatotic liver disease (MASLD) has been proposed. We aimed to explore the association between MASLD and all-cause, cause-specific mortalities. Methods: We included individuals with steatotic liver disease (SLD) from the Korean National Health Insurance Service. Moreover, SLD was defined as a fatty liver index ≥30. Furthermore, MASLD, metabolic alcohol-associated liver disease (MetALD), and alcoholic liver disease (ALD) with metabolic dysfunction (MD) were categorized based on alcohol consumption and MD. We also analyzed all-cause, liver-, cancer-, hepatocellular carcinoma (HCC)- and cardiovascular (CV)-related mortalities. Results: This retrospective nationwide cohort study included 1,298,993 individuals aged 40 to 79 years for a mean follow-up duration of 9.04 years. The prevalence of MASLD, MetALD, and ALD with MD was 33.11%, 3.93%, and 1.00%, respectively. Relative to the “no SLD” group, multivariable analysis identified that MASLD (adjusted hazard ratio [aHR], 1.28; 95% confidence interval [CI], 1.26 to 1.31), MetALD (aHR, 1.38; 95% CI, 1.32 to 1.44), and ALD with MD group (aHR, 1.80; 95% CI, 1.68 to 1.93) have a significantly higher risk of all-cause mortality. Furthermore, MASLD, MetALD, ALD with MD groups showed higher liver-, cancer- and HCC-related mortality than “no SLD” group. While all-cause specific mortalities increase from MASLD to MetALD to ALD with MD, the MetALD group shows a lower risk of CV-related mortality compared to MASLD. However, ALD with MD group still have a higher risk of CV-related mortality compared to MASLD. Conclusion SLD is associated with an increased risk of all-cause, liver-, cancer-, HCC-, and CV-related mortalities.