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1.
Article in English | WPRIM | ID: wpr-1042671

ABSTRACT

Objective@#This study tried to observe clinical benefit of aripiprazole augmentation (ARPA) treatment for major depressive disorder with anxious distress (MDDA) in routine practice. @*Methods@#Retrospective chart review (n = 41) was conducted for clinical benefit of ARPA in patients with MDDA in routine practice. The primary endpoint was the mean change of Hamilton Anxiety Rating scale (HAMA) total scores from baseline to the endpoint. Additional secondary endpoints were also retrieved. @*Results@#The changes of primary endpoint HAMA (t = 5.731, −4.6, p = 0.001), and secondary endpoints including Hamilton Depression Rating scale (HAMD, t = 4.284, −3.4, p < 0.001), Clinical Global Impression-Clinical Benefit (CGI-CB, −0.9, t = 1.821, p = 0.026), and Clinical Global Impression Score-Severity (CGI-S, t = 3.556, −0.4, p < 0.001) scores were also significantly improved during the study. No significant adverse events were observed. @*Conclusion@#This study has shown additional benefit of ARPA treatment for MDDA patients in routine practice. However, adequately-powered and well-controlled studies are necessary for generalization of the present findings.

2.
Journal of Rhinology ; : 86-92, 2024.
Article in English | WPRIM | ID: wpr-1044059

ABSTRACT

Background and Objectives@#This study aimed to evaluate the factors that influence deep sleep restoration in patients with obstructive sleep apnea (OSA) following positive airway pressure (PAP) therapy. @*Methods@#In total, 363 patients diagnosed with OSA who received PAP therapy over at least 3 months were enrolled in the study. Polysomnographic parameters, anatomical characteristics, and subjective sleep-related parameters were evaluated according to the presence of daytime sleepiness and morning headache before and after 3 months of PAP treatment. @*Results@#Age was significantly different according to whether excessive daytime sleepiness (EDS) was alleviated (average: 49.35 years) or persisted (average: 52.82 years) (p=0.001). Age was also significantly associated with morning headache (p=0.037). Body mass index (BMI) was higher in the alleviated EDS group (28.70 kg/m2) than in the persistent EDS group (27.13 kg/m2; p=0.002). The apnea-hypopnea index (AHI) was correlated with the EDS outcome (p=0.011). The group with alleviated EDS had a longer mandibular plane to hyoid distance (MPH) than the group with persistent EDS (17.95 mm vs. 15.38 mm; p<0.001). However, BMI, AHI, and MPH showed no significant associations with morning headache. Epworth Sleepiness Scale scores were higher in the alleviated EDS and alleviated morning headache groups (EDS: p<0.001, morning headache: p=0.001). Self-Efficacy Measure for Sleep Apnea (SEMSA) values differed significantly between the EDS groups (p<0.001), but not between the morning headache groups (p=0.122). After 3 months of PAP therapy, the MPH was negatively correlated with EDS in univariate (odds ratio [OR]=0.921, p<0.001) and multivariate analyses (OR=0.937, p=0.028). The SEMSA score was also negatively correlated with EDS in univariate (OR=0.961, p<0.001) and multivariate (OR=0.973, p=0.019) analyses. @*Conclusion@#Age, polysomnographic metrics, and anatomical considerations were important for sleep quality-associated daytime symptoms. In addition, anatomical characteristics and the patient’s self-efficacy were significantly associated with the effect of PAP treatment on sleep quality.

3.
Psychiatry Investigation ; : 111-122, 2024.
Article in English | WPRIM | ID: wpr-1045137

ABSTRACT

Objective@#Second-generation antipsychotics (SGAs) have revolutionized the treatment of psychiatric disorders, but are associated with significant metabolic risks, including diabetes and hyperglycemic crises. This review explores the complex interplay between antipsychotics, diabetes, and hyperglycemic crises, highlighting the mechanisms underlying SGA-induced diabetes. @*Methods@#We present the case of a patient with schizophrenia who was taking antipsychotic medication and was admitted to the emergency room due to the sudden onset of diabetic ketoacidosis (DKA) without any history of diabetes. We extensively searched databases, including Elsevier, PubMed, IEEE, SpringerLink, and Google Scholar, for papers on the effects of antipsychotic drugs on DKA from 2002 to 2021. We focused on DKA, hyperglycemia, and atypical antipsychotics, and retrieved 117 papers. After full-text review, 32 papers were included in this comprehensive review. @*Results@#DKA was significantly more frequent in patients taking SGAs. Antipsychotics can induce insulin resistance either directly or through the onset of obesity. Antipsychotics can reduce insulin secretion from pancreatic β-cells, which is associated with absolute insulin deficiency. @*Conclusion@#As the use of antipsychotics continues to increase, understanding their risks and mechanisms is crucial for clinicians to enable informed treatment decisions and prevent potentially life-threatening complications.

4.
Psychiatry Investigation ; : 191-199, 2024.
Article in English | WPRIM | ID: wpr-1045140

ABSTRACT

Objective@#Research on the association between posttraumatic embitterment disorder (PTED) and other psychopathologies in veterans and adults aged ≥65 years is lacking. This study aimed to assess embitterment among elderly war veterans and its association with major psychopathological factors. @*Methods@#Participants included Vietnam War veterans who visited a psychiatric clinic. Based on the Posttraumatic Embitterment Disorder Self-Rating Scale (PTEDS) score, the participants were divided into the embitterment (PTED(+), mean score of PTEDS items [mPTEDS] ≥1.6) and non-embitterment (PTED(-), mPTEDS <1.6) groups. Demographic characteristics, combat exposure severity, depression, anxiety, sleep, and alcohol use disorder symptom scores of the participants were collected and compared between the PTED(+) and PTED(-) groups. A correlation analysis between symptom measure scores and the mPTEDS was conducted. The influence of psychopathology on embitterment was investigated using stepwise multiple linear regression analysis. @*Results@#In total, 60 participants (28 in PTED(+) and 32 in PTED(-)) were included. Among those in PTED(+), 21 (35.0%) showed mild embitterment symptoms (1.6≤ mPTEDS <2.5) and 7 (11.7%) reported moderate or severe embitterment symptoms (mPTEDS ≥2.5). The mean scores of posttraumatic stress disorder (PTSD), depression, and anxiety were significantly higher in the PTED(+) than in the PTED(-) group. The mPTEDS were significantly correlated with PTSD, depression, anxiety, and sleep disorder scores. The PTSD symptoms significantly explained the higher mPTEDS score in a regression model. @*Conclusion@#Embitterment symptoms were associated with PTSD, depression, anxiety, and insomnia symptoms in elderly veterans, similar to the results of prior studies involving only the general population.

5.
Psychiatry Investigation ; : 691-700, 2024.
Article in English | WPRIM | ID: wpr-1045167

ABSTRACT

Objective@#The study aimed to analyze and clinically correlate 10-year trends in the demographic characteristics of patients receiving electroconvulsive therapy (ECT) to provide an overview of ECT utilization in South Korea. @*Methods@#Using health insurance claims data from 2008 to 2018 retrieved from Health Insurance Review and Assessment Service database in South Korea, we identified individuals undergoing ECT based on procedural codes. Descriptive analysis evaluated baseline clinical characteristics, and trend analysis used a linear regression model. @*Results@#The prevalence of ECT increased by 240.49% (0.405/10 5 inhabitants in 2008 to 0.974/10 5 inhabitants in 2018). The increasing trend was more pronounced in younger and older patients. The proportion of women consistently exceeded that of men. A rise in the proportion of patients with affective disorders, and a decrease in the proportion of psychotic disorders was observed. More antidepressants and atypical antipsychotics were prescribed to patients undergoing ECT. The proportion of ECT sessions conducted in large hospital inpatient settings also decreased during the observation period. Despite increasing global trends, ECT prevalence in South Korea remains significantly lower than worldwide rates. @*Conclusion@#This study demonstrated an increasing trend of ECT across a wide range of population demographics and in more accessible settings. The comparatively low prevalence of ECT in Korea compared to other countries might be attributed to insufficient mental health literacy and the stigma associated with ECT. Given the elevated suicide rates in Korea, more extensive adoption of ECT appears imperative.

6.
Article in English | WPRIM | ID: wpr-976915

ABSTRACT

Objective@#Exposure to stressful events is associated with the progression of white matter hyperintensity (WMH). The purpose of this study was to determine the difference in WMH depending on the presence of Post-traumatic stress disorder (PTSD). @*Methods@#The patients who underwent brain magnetic resonance imaging and clinician-administered PTSD scale (CAPS) at the Veteran Health Service Medical Center were reviewed retrospectively. WMH were evaluated using the Fazekas scale. The patients with PTSD (n=51; age 66.25±10.43 years) were compared with patients exposed to trauma without PTSD (n=67; age 69.45±10.44 years). @*Results@#The scores of Beck Depression Scale, Beck Anxiety scale, and CAPS were significantly higher in the PTSD group. The PTSD group showed a significant difference on the Fazekas scale compared to the trauma-exposed group without PTSD (periventricular white matter, p=0.001; deep white matter, p=0.008). After adjusting for age, smoking and comorbidity, WMH was higher in the PTSD group than in the trauma exposed group (periventricular white matter, p<0.001; deep white matter, p=0.006). @*Conclusion@#The results suggests that there may be an association between PTSD and WMH as well as stressful events.

7.
Article in English | WPRIM | ID: wpr-976989

ABSTRACT

Objectives@#This study identifies the distinct cognitive function profiles of partial posttraumatic stress disorder (PTSD). @*Methods@#Medical records of Vietnam War Korean Veterans, who visited a psychiatric clinic and underwent a Clinician-Administered PTSD scale (CAPS) and neurocognitive test on the same day, were retrospectively reviewed. Based on the CAPS interview, participants were divided into partial PTSD (n=10) and non-PTSD (n=36) groups. The neurocognitive test score profiles of both groups were compared. Analysis of covariance was performed to adjust the contribution of possible confounders to cognitive function. @*Results@#Cognitive profile analysis displayed significantly poorer performance of executive function and mental flexibility (measured by the Trail Making Test B) and concentration (measured by mini mental status exam) in the partial PTSD group. When adjusted with age, depressive symptom measure, and education level, no significant differences were obtained in the cognitive profiles between both groups. @*Conclusion@#Results of the current study revealed a deficit in executive function and concentration in partial PTSD subjects compared to non-PTSD. However, when adjusted with possible confounders such as depressive symptoms, the cognitive profiles of partial PTSD displayed no significant difference with the cognitive profiles of non-PTSD subjects.

8.
Article in English | WPRIM | ID: wpr-1040618

ABSTRACT

Objective@#To translate the Brief Resilience Scale into Korean and evaluate its reliability and validity. @*Methods@#To investigate the factor structure of the Brief Resilience Scale, we examined a two-factor model comprising positively and negatively worded items. Congruent and divergent validity of the Brief Resilience Scale were investigated using correlation analysis between the Brief Resilience Scale and resilience, depression, and perceived stress. By conducting an analysis of variance among groups classified by suicidality (no suicidality, only suicidal ideation, and suicidal ideation or suicidal plan groups), we evaluated how well the Brief Resilience Scale could detect people with a high risk of suicide. @*Results@#Confirmatory factor analysis results supported the construct validity of the Brief Resilience Scale using a two-factor model. Cronbach’s alpha (0.91) and McDonald’s omega (0.91) scores indicated high internal consistency. Correlation analysis showed that the Brief Resilience Scale scores were strongly associated with a questionnaire evaluating resilience, depression, and perceived stress. Analysis of variance and post-hoc tests showed that he Brief Resilience Scale scores were highest in the no suicidality group (p < 0.001). @*Conclusion@#The Korean version of the Brief Resilience Scale is a valid and reliable instrument for evaluating resilience as the capacity to recover from adversity and endure obstacles or stress. This study also provides important evidence regarding the sensitivity of the Brief Resilience Scale to suicidal risk.

9.
Article in English | WPRIM | ID: wpr-1041238

ABSTRACT

Objective@#Cognitive dysfunction is frequently reported after surgery and anesthesia in elderly patients. This study aims to investigate the incidence of dementia for eight years after anesthesia. @*Methods@#We extracted the data between 2007 and 2020 from the Health Insurance Review and Assessment Service Database. We analyzed risk of developing dementia after anesthesia using Cox proportional hazard models. @*Results@#Data were collected from 62,541 patient. Among them, subjects with and without anesthesia were 15,857 and 46,684, respectively. Subjects with anesthesia had more hypertension, diabetes mellitus and hyperlipemia than those without anesthesia.The risk of dementia incidence was found to increase 1.7 times in subjects with anesthesia (hazard ratio=1.751, 95% confidence interval=1.596-1.921). Even after the correction for gender, age, and comorbidity, the statistical significance of this risk remained (hazard ratio=1.662, 95% confidence interval=1.512-1.827). @*Conclusion@#Our findings suggest that anesthesia possibly contribute on cognitive impairment. Clinician might need closedobservation on cognitive function in patients after surgery and anesthesia.

10.
Article in English | WPRIM | ID: wpr-999864

ABSTRACT

Obstructive sleep apnea (OSA) is a common disorder characterized by upper airway obstruction during sleep. To reduce the morbidity of OSA, sleep specialists have explored various methods of managing the condition, including manifold positive airway pressure (PAP) techniques and surgical procedures. Nasal obstruction can cause significant discomfort during sleep, and it is likely that improving nasal obstruction would enhance the quality of life and PAP compliance of OSA patients. Many reliable studies have offered evidence to support this assumption. However, few comprehensive guidelines for managing OSA through nasal surgery encompass all this evidence. In order to address this gap, the Korean Society of Otorhinolaryngology-Head and Neck Surgery (KORL-HNS) and the Korean Society of Sleep and Breathing designated a guideline development group (GDG) to develop recommendations for nasal surgery in OSA patients. Several databases, including OVID Medline, Embase, the Cochrane Library, and KoreaMed, were searched to identify all relevant papers using a predefined search strategy. The types of nasal surgery included septoplasty, turbinate surgery, nasal valve surgery, septorhinoplasty, and endoscopic sinus surgery. When insufficient evidence was found, the GDG sought expert opinions and attempted to fill the evidence gap. Evidence-based recommendations for practice were ranked according to the American College of Physicians’ grading system. The GDG developed 10 key action statements with supporting text to support them. Three statements are ranked as strong recommendations, three are only recommendations, and four can be considered options. The GDG hopes that this clinical practice guideline will help physicians make optimal decisions when caring for OSA patients. Conversely, the statements in this guideline are not intended to limit or restrict physicians’ care based on their experience and assessment of individual patients.

11.
Article in English | WPRIM | ID: wpr-1001546

ABSTRACT

Objective@#Bone morphogenetic protein receptor type 2 (BMPR2) has been associated with radiographic changes in ankylosing spondylitis (AS), but further characterization of the cellular signaling pathway in osteoprogenitor (OP) is not clearly understood.The aim of this study was to investigate the expression of BMPR2 and bone morphogenetic protein 2 (BMP2)-mediated responsibility in AS. @*Methods@#We collected 10 healthy control (HC) and 14 AS-OPs derived from facet joints. Subsequently, we then conducted RNA sequencing with two samples per group and selected BMP-related genes. Facet joint tissues and derived primary OPs were evaluated by validation of selected RNA sequencing data, immunohistochemistry, and comparison of osteogenic differentiation potential. @*Results@#Based on RNA-sequencing analysis, we found that BMPR2 expression is higher in AS-OPs compared to in HC-OPs. We also validated the increased BMPR2 expression in facet joint tissues with AS and its derived OPs in messenger RNA and protein levels. Additionally, primary AS-OPs showed much greater response to osteogenic differentiation induced by BMP2 and a higher capacity for smad1/5/8-induced RUNX2 expression compared to HCs. @*Conclusion@#The expression of BMPR2 was found to be significantly increased in facet joint tissues of patients with AS. These findings suggest that BMPR2 may play a role in the BMP2-mediated progression of AS.

12.
Article in Korean | WPRIM | ID: wpr-1001676

ABSTRACT

Surgical management of the osteoarthritic knee joint consists of osteotomies such as a high tibial osteotomy (HTO), uni-compartmental knee arthroplasty (UKA), and total knee arthroplasty (TKA). These surgeries mainly treat the tibiofemoral joint but can also have an impact on the patellofemoral (PF) joint. These changes in PF joint can affect the surgical outcome.Current Concepts: PF joint problems are relative contraindications in UKA. However, recent studies have reported that these problems do not markedly affect the result of UKA. During HTO, the patella height and tracking can change, affecting the PF joint problem. The effect of the PF joint can be minimized through various methods of closing wedge HTO or modified opening wedge (OW) HTO, such as retro-tubercular biplanar OWHTO. However, this method is controversial regarding its impact on clinical outcomes. In TKA, pain caused by PF joint problems can be reduced using techniques such as patella resurfacing, patelloplasty, and denervation; however, there is no clear consensus.Discussion and Conclusion: The surgical treatment of degenerative knee osteoarthritis has an impact on the PF joint, which can affect the outcome of surgery and vice versa. However, these impacts only occasionally cause clinical difference. Conclusively, these surgeries should be done by considering the PF joint because changes in the joint can affect the surgical outcome.

13.
Article in English | WPRIM | ID: wpr-966687

ABSTRACT

Objective@#Although several previous studies have examined the association between late-life depression and blood adipokine levels, a marker of chronic inflammation, no studies have comprehensively considered the effects of metabolic syndrome, which is known to affect blood adipokine levels. This study examined blood adipokine levels in geriatric depression after adjusting for the effects of metabolic syndrome. @*Methods@#Participants were selected from the Ansan Geriatric Study (depression group [n = 76] and control group [n = 76]). Blood concentrations of four adipokines (adiponectin, resistin, neutrophil-gelatinase-associated lipocalin [NGAL], and plasminogen activator inhibitor-1 [PAI-1]) were measured using immunoassays. The effects of blood adipokine concentration on the diagnosis of depression were analyzed using multivariate logistic regression to adjust for the effects of metabolic syndrome and potential confounding factors. @*Results@#When the effects of metabolic syndrome and potential confounding factors were adjusted, only PAI-1 could explain the diagnosis of depression among all the adipokines. The depression group showed a lower blood PAI-1 level than the control group. Adiponectin, resistin, and NGAL could not explain the diagnosis of depression when the effects of metabolic syndrome and potential confounding factors were adjusted. @*Conclusion@#This study suggests the possibility that the blood PAI-1 levels in clinically pathological late-life depression may show contrasting results to those with subclinical depressive symptoms. Additionally, considering that most previous studies have been conducted with pre-geriatric populations, the study suggests the possibility that geriatric depression may show inflammatory changes with patterns that are different from those of depression in the pre-geriatric population.

14.
Article in English | WPRIM | ID: wpr-966688

ABSTRACT

Objective@#Anxious depression is associated with greater chronicity, higher severity of symptoms, more severe functional impairment, and poor response to drug treatment. However, evidence for first-choice antidepressants in patients with anxious depression is limited. This study aimed to compare the efficacy and safety of escitalopram, desvenlafaxine, and vortioxetine in the acute treatment of anxious depression. @*Methods@#Patients (n = 124) with major depressive disorder and high levels of anxiety were randomly assigned to an escitalopram treatment group (n = 42), desvenlafaxine treatment group (n = 40), or vortioxetine treatment group (n = 42) in a 6-week randomized rater-blinded head-to-head comparative trial. Changes in overall depressive and anxiety symptoms were assessed using the 17-item Hamilton Depression Rating Scale (HAMD) and Hamilton Anxiety Rating Scale (HAMA), respectively. @*Results@#Patients demonstrated similar baseline-to-endpoint improvement in scores and similar response and remission rates for HAMD and HAMA. Analysis of the individual HAMD items revealed that desvenlafaxine significantly reduced anxiety somatic scores (p= 0.013) and hypochondriasis scores (p = 0.014) compared to escitalopram. With respect to the individual HAMA items, desvenlafaxine treatment showed significantly lower scores for respiratory symptoms (p = 0.013) than escitalopram treatment and cardiovascular symptoms (p = 0.005) than vortioxetine treatment. The treatments were well tolerated, with no significant differences. @*Conclusion@#Our results indicated no significant differences in the efficacy and tolerability of escitalopram, desvenlafaxine, and vortioxetine in this subtype of patients with anxious depression during the acute phase of treatment.

15.
Article in Korean | WPRIM | ID: wpr-969061

ABSTRACT

Background and Objectives@#The aim of this study was to identify the frequency of indicators of National Health Insurance (NHI) coverage for positive airway pressure (PAP) therapy and to investigate the changes in patients receiving coverage for PAP therapy after the alterations were made in the insurance benefit standards for mild obstructive sleep apnea (OSA).Subjects and Method We divided the mild OSA patients into two groups according to altered categorization in insurance benefit standards (Mild1: 5≤AHI<10; Mild2: 10≤AHI<15). Eight indicators related to the NHI coverage were identified: four symptoms, three complications, and the minimal blood oxygen saturation during polysomnography (min SpO2) of ≤85% during polysomnography. We also investigated the change in the number of patients receiving insurance benefits under the altered insurance benefit standards. @*Results@#Of the 233 OSA patients, 66, 57, and 110 patients were diagnosed as mild, moderate and severe OSA, respectively. For all of them, the most common indicator related to NHI coverage for PAP therapy was the minimum SpO2 of less than 85% during polysomnography, and the second most common indicator was daytime sleepiness. In the mild OSA group, however, daytime sleepiness was found to be the most common indicator, found in 46 (70%) patients, followed by 38 (58%) patients with min SpO2 of less than 85%. In this group, 59 (89.4%) would have been benefited before the change in the insurance benefit standards whereas 51 patients (77.3%) would now be benefited under the changed insurance benefit standards. @*Conclusion@#Daytime sleepiness was the most commonly observed indicator in the mild OSA patients. The number of patients receiving insurance benefits for PAP therapy significantly decreased after the change was made in the NHI benefit standards for mild OSA

16.
Article in English | WPRIM | ID: wpr-1002633

ABSTRACT

Objectives@#In 2021, the effectiveness of the COVID-19 vaccine was analyzed among people living in the Honam region (Gwangju, Jeollanam-do, Jeollabuk-do, and Jeju) of the Republic of Korea. And we investigated changes in the dominant virus strain. @*Methods@#This study used the data provided by the Korean Ministry of the Interior and Safety for individuals ≥12 years old in the Honam region, and the Integrated Disease and Health Management System of the Korea Centers for Disease Control and Prevention for COVID-19-vaccinated individuals as of December 31, 2021. Statistical analyzes were performed using IBM SPSS ver. 23.0. The occurrence of confirmed cases by vaccination status, the relative risk, and vaccine effectiveness by vaccine type were calculated. @*Results@#In 2021, the COVID-19 vaccination rate in Honam was 88.6%. The overall vaccine effectiveness (after 2 and 3 doses) was 98.7% (p98%, and the effect among persons who received 2 doses was >90% regardless of the vaccine type. Although vaccine effectiveness decreased because of reduced antibody levels over time (as observed in breakthrough infections), receiving a booster dose restored the neutralizing antibody levels.

17.
Article in English | WPRIM | ID: wpr-968222

ABSTRACT

Posttraumatic stress disorder (PTSD) is well known to have a limited response to drug treatment. Many recently published clinical care guidelines recommend trauma-focused psychotherapies such as cognitive processing therapy (CPT) and prolonged exposure therapy (PE) as first-line treatment and medication such as sero-tonin reuptake inhibitors and venlafaxine as second-line treatment. Current review introduces the session composition and contents of CPT and presents various CPT studies that show therapeutic effect for civilian and veterans/military with PTSD. In order for clinicians to help effectively patients with PTSD, it is necessary to learn and actively use evidence-based trauma-focused psychotherapies including CPT and PE.

18.
Article in English | WPRIM | ID: wpr-968224

ABSTRACT

Clozapine is accepted as the “gold standard” antipsychotics for treatment-resistant schizophrenia. Clozapine rarely causes extrapyramidal syndrome and tardive dyskinesia, which are common with other antipsychotics, and only a transient elevation of hyperprolactinemia has been reported. Despite such clinical usefulness, there are limitations to the use of clozapine due to adverse drug reactions (ADR). Fever is a common in adverse drug reactions associated with clozapine. At initiation of clozapine most fatal ADR such as agranulocytosis and neuroleptic malignant syndrome associated with fever, in which case clozapine should be discontinued immediately. However, as benign causes of fever are much more frequent than life-threatening ADR, clozapine should not be discontinued unconditionally in the event of fever during clozapine initiation. In addition, fever may occur at any time during the maintenance of clozapine treatment. In particular, since the risk of pneumonia does not decrease over time, and clozapine has a higher risk of pneumonia than other antipsychotic drugs, it is recommended to adjust clozapine dosage through therapeutic drug monitoring.

19.
Neonatal Medicine ; : 112-116, 2022.
Article in English | WPRIM | ID: wpr-968396

ABSTRACT

Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respiratory distress in early infancy, and arthrogryposis. More than 250 individuals with approximately 57 different molecular variants have been reported since 2013, but the phenotype-genotype association in SYS is not yet fully understood. Here, we describe the case of a Korean patient diagnosed with SYS harboring a mutation in the paternal allele of MAGEL2: c.2895G>A, resulting in a protein change of p.Trp965*. The patient’s phenotype included respiratory distress, arthrogryposis, hypotonia, and feeding difficulty in the early neonatal period. Mild renal dysfunction and hearing impairment were observed during infancy.

20.
Article in Korean | WPRIM | ID: wpr-969044

ABSTRACT

Background and Objectives@#The aim of this study was to evaluate the effect of sleep position and nasal cavity dimension according to minimal cross-sectional area (MCA) on the severity of obstructive sleep apnea (OSA).Subjects and Method This study enrolled 528 consecutive patients who completed overnight polysomnography (PSG) and acoustic rhinometry. Positional sleep time and apnea-hypopnea index (AHI) were compared between the right and left lateral sleep positions (RLSP vs. LLSP), and between the wide and narrow lateral side sleep position (WLSP vs. NLSP) according to MCA. @*Results@#The sleep time was longer for LSP than for WLSP (20.35%±19.69% and 15.92%±16.35%, respectively) with a statistically significant difference (p=0.001). However, the AHI was not significantly different between the two groups. The sleep time was longer for RLSP than for LLSP (20.65%±19.31% and 15.39%±16.05%, respectively) with a statistically significant difference (p<0.001). In the RLSP-dominant group, there were fewer left nasal cavity narrowed patients than right nasal cavity narrowed patients (91 vs. 129, respectively). Furthermore, in the LLSP-dominant group, there were fewer right nasal cavity narrowed patients than left nasal cavity narrowed patients (60 vs. 85, respectively, p=0.001). However, we found that the AHI value was not significantly different according to sleep posture and nasal cavity dimension. @*Conclusion@#Snoring patients preferred RLSP to LLSP, and preferred to sleep on the lateral side of the narrow nasal cavity. The OSA severity was not different according to sleep position and nasal cavity dimension.

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