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BACKGROUND/OBJECTIVES@#Atopic dermatitis (AD) is a chronic disease with an increasing incidence globally; therefore, there is a growing demand for natural compounds effective in treating dermatitis. In this study, the protective effects of Lycium barbarum leaves with and without chlorophyll (LLE and LLE[Ch-]) on AD were investigated in animal models of AD and HaCaT cells. Further, we investigated whether LLE and LLE(Ch-) show any differences in physiological activity.MATERIALS/METHODS: AD was induced by 2,4-dinitrochlorobenzene (DNCB) for three weeks, while NC/Nga mice were fed LLE or LLE(Ch-) extracts for 7 weeks. Serum immunoglobulin E (IgE) and cytokine (tumor necrosis factor [TNF]-α, interleukin [IL]-6, and IL-4) concentrations and the degree of DNA fragmentation in lymphocytes were examined. A histopathological examination (haematoxylin & eosin staining and blue spots of toluidine) of the dorsal skin of mice was performed. To elucidate the mechanism of action, the expression of the thymus and activation-regulated chemokine (TARC) and macrophage-derived chemokine (MDC) were measured in HaCaT cells. @*RESULTS@#Serum IgE and cytokines (TNF-α and IL-6) levels as well as DNA fragmentation of lymphocytes were significantly decreased in AD-induced mice treated with LLE or LLE(Ch-) compared to those of the control group. The epidermal thickness of the dorsal skin and mast cell infiltration in the LLE group significantly reduced compared to that in the control group. The LLE extracts showed no cytotoxicity up to 1,000 µg/mL in HaCaT cells. LLE or LLE(Ch-)-treated group showed a reduction of TARC and MDC in TNF-α-and IFN-γ-stimulated HaCaT cells. @*CONCLUSIONS@#These results suggest that LLE potentially improves inflammation by reducing the expression of chemokines that inhibit T helper 2 cell migration. LLE(Ch-) showed similar effects to LLE on blood levels of IgE, TNF-α and IL-6 and protein expression in HaCat cells, but the ultimate effect of skin improvement was not statistically significant.Therefore, both LLE and LLE(Ch-) can be used as functional materials to alleviate AD, but LLE(Ch-) appears to require more research to improve inflammation.
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Purpose@#This study was conducted to establish whether an ethanol extract of Lycium barbarum leaves (LLE) and an ethanol extract of Lycium barbarum leaves from which chlorophyll has been removed, denoted as LLE(Ch−), have a protective effect against hepatic fat accumulation. @*Methods@#The inhibitory effects of LLE and LLE(Ch−) on liver fat accumulation were examined in C57BL/6 mice with non-alcoholic fatty liver disease (NAFLD) induced by an methionine and choline deficient diet and in HepG2 cells with palmitic acid-induced fat accumulation. @*Results@#The plasma triglyceride, aspartate aminotransferase, and alanine aminotransferase levels were lower in the LLE(Ch−) group, whereas the plasma ALT activity decreased significantly in the LLE group. In both the LLE and the LLE(Ch−) groups, the triglyceride and cholesterol contents in the hepatic tissue were significantly reduced. A greater inhibitory effect on tissue fat accumulation was observed in the LLE(Ch−) group than in the LLE group. In HepG2 cells, LLE and LLE(Ch−) were non-toxic up to a concentration of 1,000 µg/mL. Compared to the control group, intracellular fat accumulation in the LLE and LLE(Ch−) groups were significantly reduced at concentrations of 200 µg/mL and 500 µg/mL, respectively. The expression of phosphorylated adenosine monophosphate-activated protein kinase and phosphorylated acetyl-CoA carboxylase in both LLE groups increased at the concentrations of 100 μg/mL and 500 μg/mL. The fatty acid synthase expression was suppressed in a concentration-dependent manner at 10 μg/mL. @*Conclusion@#The examined two ethanol extracts of LLE inhibit hepatic fat accumulation in NAFLD. This effect was more pronounced in the LLE(Ch−) group. Therefore, these 2 extracts have an anti-steatosis effect and can be used for NAFLD treatment.
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Background@#There has been remarkable progress in hemophilia A (HA) treatment in Korea.Viral inactivation products were developed in 1989, use of recombinant factor VIII (FVIII) concentrates started in 2002, and prophylaxis expanded thereafter. This study was conducted to identify the changes in complications in HA before and after 1989 or 2002. @*Methods@#The study was performed using the 2007–2019 Healthcare Big Data Hub of the Health Insurance Review and Assessment Service. @*Results@#Among 2,557 patients, 1,084 had ≥ 1 complication; 829 had joint problems, 328 had viral infections, 146 had neurologic sequelae, and 87 underwent 113 surgeries or procedures due to complications. Patients born after 1989 had a significantly lower risk of viral infections than those born before 1989; 27.1% vs. 1.4% (P 10 years to expand prophylaxis widely. Neurologic sequelae have not decreased; thus, additional efforts to decrease intracranial hemorrhage are needed. We suggest personalized dosing of FVIII and more meticulous care during childbirth to further reduce the complications.
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Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.
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A measles outbreak with 20 confirmed cases occurred at a local children’s hospital in Daejeon from March 28 to April 21, 2019. The index patient was a 7-month-old girl with a recent history of travel to Vietnam. Contact tracing, active surveillance, and post-exposure prophylaxis were conducted by health authorities. Among the 20 patients, 11 (55%) were infants (0–11 months of age), three (15%) were aged 1–3 years, one (5%) was aged 4 years, and five (25%) were adults. Fifteen (75%) patients did not have a history of measles vaccination, and five (25%) had received only one vaccine dose. This study described the importance of prompt application of infection control measures in susceptible environments, including hospitals. Age-appropriate vaccination and providing information on infectious diseases to international travelers and multicultural families in Korea is vital.
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Background@#The association of myosteatosis measured using visual muscular quality map in computed tomography (CT) with nonalcoholic fatty liver disease (NAFLD), its severity, and fibrosis was analyzed in a large population. @*Methods@#Subjects (n=13,452) with abdominal CT between 2012 and 2013 were measured total abdominal muscle area (TAMA) at L3 level. TAMA was segmented into intramuscular adipose tissue and skeletal muscle area (SMA), which was further classified into normal attenuation muscle area (NAMA) and low attenuation muscle area (LAMA). The following variables were adopted as indicators of myosteatosis: SMA/body mass index (BMI), NAMA/BMI, NAMA/TAMA, and LAMA/BMI. NAFLD and its severity were assessed by ultrasonography, and liver fibrosis was measured by calculating the NAFLD fibrosis score (NFS) and fibrosis-4 index (FIB-4) scores. @*Results@#According to multiple logistic regression analyses, as quartiles of SMA/BMI, NAMA/BMI, and NAMA/TAMA increased, the odds ratios (ORs) for NAFLD decreased in each sex (P for trend <0.001 for all). The ORs of moderate/severe NAFLD were significantly higher in the Q1 group than in the Q4 group for SMA/BMI, NAMA/BMI, and NAMA/TAMA in men. The ORs of intermediate/high liver fibrosis scores assessed by NFS and FIB-4 scores increased linearly with decreasing quartiles for SMA/BMI, NAMA/BMI, and NAMA/TAMA in each sex (P for trend <0.001 for all). Conversely, the risk for NAFLD and fibrosis were positively associated with LAMA/BMI quartiles in each sex (P for trend <0.001 for all). @*Conclusion@#A higher proportion of good quality muscle was associated with lower risks of NAFLD and fibrosis.
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Purpose@#Acute promyelocytic leukemia (APL) is a rare disease in children and there are some different characteristics between children and adult. We aimed to evaluate incidence, clinical characteristics and treatment outcomes of pediatric APL in Korea. @*Materials and Methods@#Seventy-nine pediatric APL patients diagnosed from January 2009 to December 2016 in 16 tertiary medical centers in Korea were reviewed retrospectively. @*Results@#Of 801 acute myeloid leukemia children, 79 (9.9%) were diagnosed with APL. The median age at diagnosis was 10.6 years (range, 1.3 to 18.0). Male and female ratio was 1:0.93. Thirty patients (38.0%) had white blood cell (WBC) count greater than 10×109/L at diagnosis. All patients received induction therapy consisting of all-trans retinoic acid and chemotherapy. Five patients (6.6%) died during induction chemotherapy and 66 patients (86.8%) achieved complete remission (CR) after induction chemotherapy. The causes of death were three intracranial hemorrhage, one cerebral infarction, and one sepsis. Five patients (7.1%) suffered a relapse during or after maintenance chemotherapy. The estimated 4-year event-free survival and overall survival (OS) rates were 82.1%±4.4%, 89.7%±5.1%, respectively. The 4-year OS was significantly higher in patients with initial WBC < 10×109/L than in those with initial WBC ≥ 10×109/L (p=0.020). @*Conclusion@#This study showed that the CR rates and survival outcomes in Korean pediatric APL patients were relatively good. The initial WBC count was the most important prognostic factor and most causes of death were related to serious bleeding in the early stage of treatment.
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Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.
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Regulation of proper gene expression is important for cellular and organismal survival, maintenance, and growth. Abnormal gene expression, even for a single critical gene, can thwart cellular integrity and normal physiology to cause diseases, aging, and death. Therefore, gene expression profiling serves as a powerful tool to understand the pathology of diseases and to cure them. In this study, the difference in gene expression in Flammulina velutipes was compared between the wild type (WT) mushroom and the mutant one with clogging phenomenon. Differentially expressed transcripts were screened to identify the candidate genes responsible for the mutant phenotype using the DNA microarray analysis. A total of 88 genes including 60 upregulated and 28 downregulated genes were validated using the realtime quantitative PCR analysis. In addition, proteomic differences between the WT and mutant mushroom were analyzed using two–dimensional gel electrophoresis and matrixassisted laser desorption/ionization-time of flight (MALDI-TOF). Interestingly, the genes identified by these genomic and proteomic analyses were involved in stress response, translation, and energy/sugar metabolism, including HSP70, elongation factor 2, and pyruvate kinase. Together, our data suggest that the aberrant expression of these genes attributes to the mutant clogging phenotype. We propose that these genes can be targeted to foster normal growth in F. velutipes.
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Autosomal dominant polycystic kidney disease (ADPKD), one of the most common human monogenic diseases, is characterized by the presence of numerous fluid-filled renal cysts and is a leading cause of end-stage renal disease (ESRD). Urinary biomarkers may be useful for predicting the variable course of ADPKD progression from cyst growth to ESRD. Methods: To identify candidate urinary biomarkers of ADPKD progression, we used CRISPR/Cas9 genome editing to generate porcine fibroblasts with mono- and biallelic ADPKD gene knockout (PKD2+/– and PKD2–/–, respectively). We then performed RNA-sequencing analysis on these cells. Results: Levels of osteopontin (OPN), which is expressed by renal epithelial tubular cells and excreted into urine, were reduced in PKD2–/– cells but not in PKD2+/– cells. OPN levels were also reduced in the renal cyst cells of ADPKD patients. Next, we investigated whether OPN excretion was decreased in patients with ADPKD via enzyme-linked immunosorbent assay. OPN levels excreted into renal cyst cell culture media and urine from ADPKD patients were decreased. To investigate whether OPN can predict the rate of ADPKD progression, we compared urinary excretion of OPN in ADPKD patients with slow progression and those with rapid progression. Those with rapid progression had an estimated glomerular filtration rate of >60 mL/min/1.73 m2 . Urinary OPN excretion levels were lower in rapid progressors than in slow progressors. Conclusion: These findings suggest that OPN is a useful urinary biomarker for predicting ADPKD progression.
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Purpose@#Natural medicinal plant extracts have recently attracted attention as health beneficial foods and potential therapeutic agents for prevention of various diseases. This study was undertaken to measure the anti-inflammatory effect of the ethanol-water fraction obtained from the above-ground portion of Spiraea prunifolia var. simpliciflora, a wild-growing plant in Korea. The final fraction used in this study was the H 2 O-EtOH (40:60) fraction (SP60), which had the highest antioxidant activity, as determined in previous studies. @*Methods@#The amounts of nitric oxide (NO), tumor necrosis factor (TNF)-α, interleukin (IL)-6 and IL-1β production were measured in lipopolysaccharide (LPS)-stimulated RAW 264.7 cells exposed to SP60. Western blot was performed to measure the expressions of inducible nitric oxide synthase (iNOS), cyclooxygenase (COX)-2, and the activation of nuclear factor (NF)-κB. @*Results@#SP60 exerted no cytotoxicity up to concentrations of 125 μg/mL. The levels of inflammatory cytokines, such as NO, TNF-α, IL-6, and IL-1β, were significantly decreased in LPS-stimulated RAW264.7 cells exposed to SP60. In addition, the expression levels of iNOS, COX-2, and phosphorylated p65 showed a concentration-dependent decrease subsequent to SP60 treatment. These results indicate that SP60 inhibits the LPS-induced production of inflammatory cytokines, iNOS, and COX-2, by inhibiting the activation of NF-κB, which is responsible for the expression of inflammatory mediators. @*Conclusion@#The results presented in this study indicate that the H 2 O-EtOH (40:60) fraction (SP60) extracted from the above-ground portion of Spiraea prunifolia var. simpliciflora has
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Purpose@#Children with Down syndrome (DS) show a higher risk of acute leukemia than those without DS. In this study, we investigated the nationwide incidence of acute leukemia among children with DS and compared their epidemiologic characteristics with those of children with acute leukemia but without DS. @*Materials and Methods@#Using the National Health Insurance Service database, we selected patients with acute leukemia aged 0–19 years at diagnosis between 2007 and 2016. @*Results@#Among the 4,697 children with acute leukemia, 54 (1.1%) had DS. The median incidence rate of leukemia with DS by year was 1.3% (range, 0.2%–2.0%). Sixteen patients with acute lymphoblastic leukemia (ALL; 29.6%) and 36 with acute myeloid leukemia (AML; 66.7%) had DS. The DS group showed younger age at diagnosis than the non-DS group, and diagnosis of AML was more frequent in the DS group than in the non-DS group (3 years vs. 9 years, p<0.001; 66.7% vs. 32.4%, P<0.001, respectively). The 5-year overall survival was comparable between the DS and non-DS groups (88.0% vs. 81.9%, p=0.375). Among all the Koreans born between 2007 and 2008, the incidences of acute leukemia, ALL, and AML were 49.25, 20.75, and 163.38 times higher, respectively, in the DS group than in the non-DS group. @*Conclusion@#Our findings support the fact that the incidence of acute leukemia is higher among patients with DS than among those without DS in Korea. However, the DS and non-DS groups in this study had a comparable overall survival rate.
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Despite the availability of therapies to treat patients with immune thrombocytopenia (ITP), there is currently little data from randomized trials to assist clinicians in managing patients. The evidence-based guidelines of the Korean Society of Hematology Aplastic Anemia Working Party (KSHAAWP) are intended to support patients and physicians in the management of ITP. Experts from the KSHAAWP discussed and described this guideline according to the current treatment situation for ITP in Korea and finalized the guidelines. The expert panel recommended the management of ITP in adult and pediatric patients with newly diagnosed, persistent, and chronic disease refractory to first-line therapy with minor bleeding. Management approaches include observation and administration of corticosteroids, intravenous immunoglobulin, anti-D immunoglobulin, and thrombopoietin receptor agonists. Currently, evidence supporting strong recommendations for various management approaches is lacking. Therefore, a large focus was placed on shared decision-making, especially regarding second-line treatment.
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Purpose@#Despite continuous updates of standard treatment guidelines for acute ankle sprain and chronic ankle instability (CAI), in practice preferred treatment protocols vary widely. Based on a Korean Foot and Ankle Society (KFAS) member survey, this study reports current trends in the management of ankle ligament injuries. @*Materials and Methods@#A web-based questionnaire containing 34 questions was sent to all KFAS members in September 2021. Questions mainly addressed clinical experience and preferences for the diagnosis and treatment of ankle ligament injuries. Answers with a prevalence of ≥50% among respondents were considered to reflect tendencies. @*Results@#Eighty-four of the 550 members (15.3%) responded. Answers that showed a tendency were as follows: commonest additional image study (ultrasound), conservative treatment modality (immobilization, oral medication), frequency of surgical treatment (<5 cases per annum), most important factor when deciding on surgical treatment (activity level, e.g., occupation or sport), and commonest surgical procedure (open ligament repair). Answers that showed a tendency for CAI were as follows: most important symptom (repeated sprain, giving way), radiological factors (talar tilt, osteochondral lesion, anterior talar translation), and patient factors (occupation, sports activities, recurrent instability after surgery, etc.). For decision making regarding surgical treatment and method, the most preferred surgical procedure was the modified Broström procedure, and the most common repair technique was suture anchor technique. The following were considered poor prognostic factors; generalized laxity, failed previous surgery, cavovarus, severe mechanical instability, heavy work, obesity, and dissatisfaction after surgery because of residual pain. @*Conclusion@#This study updates information regarding current trends in the management of ankle ligament injuries in Korea, and reveals consensus opinions and variations in approaches to patients with an acute or chronic injury. The divergence of approaches identified indicates the need for further studies to determine standard guidelines and long-term results.
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Purpose@#This study aimed to report the current trends in the management of diabetic foot over the last few decades through a survey of the Korean Foot and Ankle Society (KFAS) members. @*Materials and Methods@#A web-based questionnaire containing 40 questions was sent to all KFAS members in September 2021. The questions were mainly related to the demographics of patients with diabetic foot, diagnostic tools, and multidisciplinary treatment. Answers with a prevalence of ≥50% of respondents were considered a tendency. @*Results@#Seventy-eight of the 550 members (14.2%) responded to the survey. The most common demographic factors of diabetic foot patients were male dominance with a high percentage in the 60- to 70-year-old. Although the need for multidisciplinary treatment is highly recognized in the treatment of diabetic foot patients, the actual implementation rate is about 39%. The contrast-enhanced magnetic resonance imaging (88.5%) was reported to be the most used tool for the diagnosis of osteomyelitis of the diabetic foot. It was reported that the use of antibiotics was started empirically and then changed based on bacterial culture tests in 82.1% of patients. Simple wound dressing and antibiotic treatment were most frequently reported for mild ulcers. @*Conclusion@#This study provides updated information on the current trends in the management of a diabetic foot in Korea. Both consensus and variations in the approach to patients with diabetic foot were identified by this survey study. Further efforts are required for better access to a multidisciplinary approach, such as appropriate insurance payment policies and patient education.
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Purpose@#This study aimed to report the current trends in the management of diabetic foot over the last few decades through a survey of the Korean Foot and Ankle Society (KFAS) members. @*Materials and Methods@#A web-based questionnaire containing 40 questions was sent to all KFAS members in September 2021. The questions were mainly related to the demographics of patients with diabetic foot, diagnostic tools, and multidisciplinary treatment. Answers with a prevalence of ≥50% of respondents were considered a tendency. @*Results@#Seventy-eight of the 550 members (14.2%) responded to the survey. The most common demographic factors of diabetic foot patients were male dominance with a high percentage in the 60- to 70-year-old. Although the need for multidisciplinary treatment is highly recognized in the treatment of diabetic foot patients, the actual implementation rate is about 39%. The contrast-enhanced magnetic resonance imaging (88.5%) was reported to be the most used tool for the diagnosis of osteomyelitis of the diabetic foot. It was reported that the use of antibiotics was started empirically and then changed based on bacterial culture tests in 82.1% of patients. Simple wound dressing and antibiotic treatment were most frequently reported for mild ulcers. @*Conclusion@#This study provides updated information on the current trends in the management of a diabetic foot in Korea. Both consensus and variations in the approach to patients with diabetic foot were identified by this survey study. Further efforts are required for better access to a multidisciplinary approach, such as appropriate insurance payment policies and patient education.
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Purpose@#This study was based on the Korean Foot and Ankle Society (KFAS) member survey and aimed to report the current trends in the epidemiology, diagnosis, and management of acute Achilles tendon rupture (AATR) over the past few decades. @*Materials and Methods@#A web-based questionnaire containing 34 questions was sent to all KFAS members in October 2021. The questions were mainly related to the clinical experience and preferred management of patients with AATR. Answers with a prevalence ≥50% of the respondents were considered a tendency. @*Results@#Seventy-one (12.9%) of the 550 members responded to the survey. The male sex ratio in AATR was answered mean 78%, and the most common age groups were 30~40 years (n=49; 69.0%), and 40~50 years (n=37; 52.1%), in that order. The most common seasons for the occurrence of AATR were spring (37 cases; 52.1%) and autumn (27 cases; 38.0%). Also, sports-related rupture had an average occurrence of 76.2%. The most important clinical factor to determine the type of treatment was the history of previous injuries, and 75.9% of respondents started conservative treatment in the 2010s. The most preferred protocol of conservative treatment was an orthosis capable of ankle range of motion after casting (68.5%), and 53.7% ‘satisfied’ and 1.9% ‘very satisfied’ with conservative treatment. The most preferred surgical method was open repair (80.3%), and the Krackow method (60.6%), and 49.3% of treated patients responded ‘satisfied’ and 45.1% ‘very satisfied’ with this treatment. @*Conclusion@#This study gives updated information concerning the current trend of epidemiology, diagnosis, and treatment of AATR in Korea. Both consensus and variation in the approach to AATR were identified using this survey study. This study may raise the awareness of various possible approaches toward AATR and should be used to further establish a standard protocol for the management of this injury.
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Purpose@#This study was based on the Korean Foot and Ankle Society (KFAS) member survey and aimed to report the current trends in the management of syndesmotic injuries over the last few decades. @*Materials and Methods@#A web-based questionnaire containing 36 questions was sent to all KFAS members in September 2021. The questions were mainly related to the preferred techniques and clinical experiences in the treatment of patients with syndesmotic injuries. Answers with a prevalence ≥50% of respondents were considered a tendency. @*Results@#Seventy-six (13.8%) of the 550 members responded to the survey. The results showed that the most preferred method to diagnose a syndesmotic injury was magnetic resonance imaging (MRI). Intraoperatively, the external rotation stress test and the Cotton test were most frequently used to confirm syndesmotic diastasis. The reduction was usually done by a reduction clamp. One 3.5-mm screw was used most frequently over three cortices at 2~4 cm above the ankle joint. The preferred ankle position during fixation was 0° dorsiflexion. Removal of the syndesmotic screw was routinely done by most surgeons, mainly because of the limitation of movement and risk of screw breakage. Factors that affect suture button selection included non-rigid fixation which enables adequate fixation, early weight-bearing, and an infrequent need to remove the hardware. Inadequate reduction was considered the main factor that affects poor prognosis. @*Conclusion@#This study proposes updated information about the current trends in the management of syndesmotic injuries in Korea. Consensuses in both the diagnostic and therapeutic approach to patients with syndesmotic injury were identified in this survey study. This study may raise the awareness of the various possible approaches toward the injury and should be used to further establish a standard protocol for the management of syndesmotic injuries.
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Purpose@#The purpose of this pilot study is to evaluate the reliability and validity of the Korean version of the oral health impact profile (OHIP-EDENT K) for edentulous patients. @*Materials and Methods@#The study was conducted on 12 patients who fabricated overdenture in the Department of Prosthodontics, Korea University, Guro Hospital. All subjects completed the Korean version of Oral Health Impact Profile (OHIP K) questionnaire. Shorten version of the OHIP called OHIP-14 K and OHIP-EDENT K were derived from the datasets. Cronbach's alpha was used to measure internal consistency of the summary scores for OHIP-EDENT K. The Spearman's correlation coefficient between the summary scores for OHIP-EDENT K and OHIP K was calculated to evaluate concurrent validity. @*Results@#The reliability of the summary scores for OHIP-EDENT K was acceptable (α=.736). The Spearman's correlation coefficient of the summary scores for OHIP-EDENT K and OHIP K was 0.966, which was statistically significant (P<.001). OHIP-EDENT K exhibited less susceptibility to floor effects than OHIP-14 K and appeared to measure change as effectively as OHIP K. In order to prove the reliability, responsiveness and validity of OHIP-EDENT K, further studies with more samples are needed. @*Conclusion@#The OHIP-EDENT K, a questionnaire on oral health-related QOL comprising 19 items, has measurement properties comparable with the full 49-item version. This modified shortened version can be an alternative questionnaire to full version of OHIP K and OHIP-14 K in edentulous patients.
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Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.