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Idiopathic recurrent pregnancy loss (RPL) is defined as at least two pregnancy losses before 20 weeks of gestation. Approximately 5% of pregnant couples experience idiopathic RPL, which is a heterogeneous disease with various causes including hormonal, chromosomal, and intrauterine abnormalities. Although how pregnancy loss occurs is still unknown, numerous biological factors are associated with the incidence of pregnancy loss, including genetic variants. Whole-exome sequencing (WES) was conducted on blood samples from 56 Korean patients with RPL and 40 healthy controls. The WES data were aligned by means of bioinformatic analysis, and the detected variants were annotated using machine learning tools to predict the pathogenicity of protein alterations. Each indicated variant was confirmed using Sanger sequencing. A replication study was also conducted in 112 patients and 114 controls. The Variant Effect Scoring Tool, Combined Annotation Dependent Depletion tool, Sorting Intolerant from Tolerant annotation tool, and various databases detected 10 potential variants previously associated with spontaneous abortion genes in patients by means of a bioinformatic analysis of WES data. Several variants were detected in more than one patient. Interestingly, several of the detected genes were functionally clustered, including some with a secretory function (mucin 4; MUC4; rs200737893 G>A and hyaluronan-binding protein 2; HABP2; rs542838125 G>T), in which growth arrest-specific 2 Like 2 (GAS2L2; rs140842796 C>T) and dynamin 2 (DNM2; rs763894364 G>A) are functionally associated with cell protrusion and the cytoskeleton. ATP Binding Cassette Subfamily C Member 6 (ABCC6) was the only gene with two variants. HABP2 (rs542838125 G>T), MUC4 (rs200737893 G>A), and GAS2L2 (rs140842796 C>T) were detected in only the patient group in the replication study. The combination of WES and machine learning tools is a useful method to detect potential variants associated with RPL. Using bioinformatic tools, we found 10 potential variants in 9 genes. WES data from patients are needed to better understand the causes of RPL.
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Aborto Habitual , Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Humanos , Femenino , Secuenciación del Exoma/métodos , Aborto Habitual/genética , Embarazo , Adulto , Biología Computacional/métodos , Estudios de Casos y Controles , Polimorfismo de Nucleótido SimpleRESUMEN
The growing prevalence of in vitro fertilization-embryo transfer procedures has resulted in an increased incidence of recurrent implantation failure (RIF), necessitating focused research in this area. STAT3, a key factor in maternal endometrial remodeling and stromal proliferation, is crucial for successful embryo implantation. While the relationship between STAT3 and RIF has been studied, the impact of single nucleotide polymorphisms (SNPs) in miRNAs, well-characterized gene expression modulators, on STAT3 in RIF cases remains uncharacterized. Here, we investigated 161 RIF patients and 268 healthy control subjects in the Korean population, analyzing the statistical association between miRNA genetic variants and RIF risk. We aimed to determine whether SNPs in specific miRNAs, namely miR-218-2 rs11134527 G>A, miR-34a rs2666433 G>A, miR-34a rs6577555 C>A, and miR-130a rs731384 G>A, were significantly associated with RIF risk. We identified a significant association between miR-34a rs6577555 C>A and RIF prevalence (implantation failure [IF] ≥ 2: adjusted odds ratio [AOR] = 2.264, 95% CI = 1.007-5.092, p = 0.048). These findings suggest that miR-34a rs6577555 C>A may contribute to an increased susceptibility to RIF. However, further investigations are necessary to elucidate the precise mechanisms underlying the role of miR-34a rs6577555 C>A in RIF. This study sheds light on the genetic and molecular factors underlying RIF, offering new avenues for research and potential advancements in the diagnosis and treatment of this complex condition.
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MicroARNs , Humanos , Femenino , MicroARNs/genética , MicroARNs/metabolismo , Implantación del Embrión/genética , Polimorfismo de Nucleótido Simple , Transducción de Señal/genética , República de Corea/epidemiología , Endometrio/metabolismo , Factor de Transcripción STAT3/genética , Factor de Transcripción STAT3/metabolismoRESUMEN
This scoping review analyzed statements from 22 medical organizations in the United States to identify commonalities in the definition and governance of point-of-care ultrasound (POCUS). A total of 41 statements were included. The review found that the most commonly used elements in defining POCUS were "focused," "bedside," and "patient care." In terms of governance, consistent requirements included specific training programs, documentation in medical records, continuous quality assurance, and standards for credentialing and privileging. These findings suggest the existence of essential commonalities that could facilitate communication and the development of standardized POCUS programs in the future.
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Sistemas de Atención de Punto , Pruebas en el Punto de Atención , Estados Unidos , Humanos , Ultrasonografía , Habilitación ProfesionalRESUMEN
As populations around the world age, interest in healthy aging is growing. One of the first physical changes that occurs with aging is the loss of muscle mass and strength, termed sarcopenia. Sarcopenia limits the activity of older people, reduces their quality of life, and increases the likelihood of their developing disease. In the present study, we aimed to evaluate the effects of the ingestion of acid-hydrolyzed silk peptide (SP) on the muscle mass and strength of mice of >22 months of age with naturally occurring sarcopenia, and to identify the mechanisms involved. The daily administration of SP for 8 weeks increased the activation of the Akt/mTOR/FoxO3a signaling pathways and increased the muscle mass and strength of the old mice. In addition, SP inhibited oxidative stress and inflammation in muscle, which are direct causes of sarcopenia. Therefore, SP represents a promising potential treatment for sarcopenia that may improve the healthy lifespan and quality of life of older people.
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Proteínas Proto-Oncogénicas c-akt , Sarcopenia , Humanos , Animales , Ratones , Anciano , Sarcopenia/tratamiento farmacológico , Calidad de Vida , Serina-Treonina Quinasas TOR , Inflamación/tratamiento farmacológico , Péptidos/farmacología , Péptidos/uso terapéutico , Seda , Transducción de SeñalRESUMEN
Recurrent implantation failure (RIF) is defined as a failure to achieve pregnancy after multiple embryo transfers. Implantation is closely related to inflammatory gradients, and interleukin-1beta (IL-1ß), IL-6, and tumor necrosis factor-alpha (TNF-α) play a key role in maternal and trophoblast inflammation during implantation. Signal transducer and activator of transcription 3 (STAT3) interacts with cytokines and plays a critical role in implantation through involvement in the inflammation of the embryo and placenta. Therefore, we investigated 151 RIF patients and 321 healthy controls in Korea and analyzed the association between the polymorphisms (STAT3 rs1053004, IL-1ß rs16944, IL-6 rs1800796, and TNF-α rs1800629, 1800630) and RIF prevalence. In this paper, we identified that STAT3 rs1053004 (AG, adjusted odds rate [AOR] = 0.623; p = 0.027; GG, AOR = 0.513; p = 0.043; Dominant, AOR = 0.601, p = 0.011), IL-6 rs1800796 (GG, AOR = 2.472; p = 0.032; Recessive, AOR = 2.374, p = 0.037), and TNF-α rs1800629 (GA, AOR = 2.127, p = 0.010, Dominant, AOR = 2.198, p = 0.007) have a significant association with RIF prevalence. This study is the first to investigate the association of each polymorphism with RIF prevalence in Korea and to compare their effect based on their function on inflammation.
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Factor de Transcripción STAT3 , Factor de Necrosis Tumoral alfa , Femenino , Embarazo , Humanos , Factor de Necrosis Tumoral alfa/genética , Interleucina-1beta/genética , Factor de Transcripción STAT3/genética , Interleucina-6/genética , InflamaciónRESUMEN
Coronary artery disease (CAD) is a prevalent cardiovascular condition characterized by the accumulation of plaque within coronary arteries. While distinct features of CAD have been reported, the association between genetic factors and CAD in terms of biomarkers was insufficient. This study aimed to investigate the connection between genetic factors and CAD, focusing on the thymidylate synthase (TS) gene, a gene involved in DNA synthesis and one-carbon metabolism. TS plays a critical role in maintaining the deoxythymidine monophosphate (dTMP) pool, which is essential for DNA replication and repair. Therefore, our research targeted single nucleotide polymorphisms that could potentially impact TS gene expression and lead to dysfunction. Our findings strongly associate the TS 1100T>C and 1170A>G genotypes with CAD susceptibility. We observed that TS 1100T>C polymorphisms increased disease susceptibility in several groups, while the TS 1170A>G polymorphism displayed a decreasing trend for disease risk when interacting with clinical factors. Furthermore, our results demonstrate the potential contribution of the TS 1100/1170 haplotypes to disease susceptibility, indicating a synergistic interaction with clinical factors in disease occurrence. Based on these findings, we propose that polymorphisms in the TS gene had the possibility of clinically useful biomarkers for the prevention, prognosis, and management of CAD in the Korean population.
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Enfermedad de la Arteria Coronaria , Humanos , Enfermedad de la Arteria Coronaria/epidemiología , Enfermedad de la Arteria Coronaria/genética , Incidencia , Susceptibilidad a Enfermedades , Timidilato Sintasa/genética , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVES: Testicular torsion (TT) is a pediatric surgical emergency that requires prompt treatment. This study investigated the feasibility of point-of-care ultrasound (POCUS) for diagnosing TT in the pediatric emergency department (ED). METHODS: We retrospectively reviewed the medical records of patients, aged 18 years or younger, who visited a university-affiliated hospital pediatric ED with acute scrotal pain without trauma history and underwent diagnostic ultrasounds between January 2010 and October 2022. RESULTS: This study included 731 patients (median age: 9 years), Of these, 315 (43%) were in the POCUS-performed group: 188 in the POCUS-only group, and 127 in the POCUS-and-RADUS group. The other 416 patients (56.9%) were in the RADUS-only group. In total, 45 patients (6.2%) were diagnosed with TT (19 in the POCUS-performed group and 26 in the RADUS-only group). The sensitivity, specificity, and positive and negative predictive values of POCUS for diagnosing TT were 94.7%, 92.9%, 46.2%, and 99.6%, respectively. The median time to perform POCUS was shorter than RADUS (23 versus 61 minutes, P < .001). The POCUS-performed group had a shorter ED length of stay than the RADUS-only group (93 versus 170 minutes, P < .001). Among the patients diagnosed with TT, performing POCUS first did not significantly delay the ED process, including time to operation (250 versus 205 minutes, P = .142). CONCLUSIONS: For patients with acute scrotal pain, evaluation performed by pediatric emergency physicians using POCUS performs well in screening TT, and can decrease length of stay in the ED.
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Torsión del Cordón Espermático , Masculino , Niño , Humanos , Torsión del Cordón Espermático/diagnóstico por imagen , Sistemas de Atención de Punto , Estudios Retrospectivos , Ultrasonografía , Servicio de Urgencia en Hospital , DolorRESUMEN
Pediatric patients undergoing diagnostic tests in the pediatric emergency room are frequently sedated. Although efforts are made to prevent adverse events, no sedation protocol has specified the optimal regimen, dosage, and interval of medication to prevent adverse events. This study analyzed the safety and efficacy of sequential pediatric sedation protocols for pediatric patients undergoing diagnostic tests in the pediatric emergency room of a single tertiary medical center. The medical records of patients agedâ <â 18 years who visited the pediatric emergency room of Seoul Asan Medical Center between January and December 2019 for diagnostic testing were retrospectively reviewed. Sedation protocols consisted of 50 mg/kg and 25 mg/kg chloral hydrate, 0.1 mg/kg and 0.1 mg/kg midazolam, and 1 mg/kg and 0.5 to 1 mg/kg ketamine, administered sequentially at intervals of 30, 20, 10, 10, and 10 minutes, respectively. Patients were assessed prior to sedation, and adverse events were investigated. Of the 289 included patients, 20 (6.9%) experienced adverse events, none serious, and nine (3.1%) failed to reach the depth of sedation required to complete the test. The regimen (Pâ =â .622) and dosage (Pâ =â .777) of the sedatives were unrelated to the occurrence of adverse events when sedation was performed according to protocol. The sedation protocol used in these patients, consisting of sequential administration of minimum dosages, achieved a sufficient depth of sedation with relatively few adverse events, indicating that this protocol can be used safely and effectively for painless sedation in pediatric patients undergoing diagnostic testing.
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Sedación Consciente , Hipnóticos y Sedantes , Niño , Humanos , Lactante , Estudios Retrospectivos , Sedación Consciente/métodos , Hipnóticos y Sedantes/efectos adversos , Hidrato de Cloral/efectos adversos , Servicio de Urgencia en HospitalRESUMEN
As a disease with high mortality and prevalence rates worldwide, colorectal cancer (CRC) has been thoroughly investigated. Mucins are involved in the induction of CRC and the regulation of intestinal homeostasis but a member of the mucin gene family MUC4 has a controversial role in CRC. MUC4 has been associated with either decreased susceptibility to or a worse prognosis of CRC. In our study, the multifunctional aspects of MUC4 were elucidated by genetic polymorphism analysis in a case-control study of 420 controls and 464 CRC patients. MUC4 rs1104760 A>G polymorphism had a protective effect on CRC risk (AG, AOR = 0.537; GG, AOR = 0.297; dominant model, AOR = 0.493; recessive model, AOR = 0.382) and MUC4 rs2688513 A>G was associated with an increased mortality rate of CRC (5 years, GG, adjusted HR = 6.496; recessive model, adjusted HR = 5.848). In addition, MUC4 rs1104760 A>G showed a high probability of being a potential biomarker for CRC patients with low-density lipoprotein cholesterol (LDL-C) in the risk range while showing a significant synergistic effect with the LDL-C level. This is the first study to indicate a significant association between MUC4 genetic polymorphisms and CRC prevalence, suggesting a functional genetic variant with the LDL-C level, for CRC prevention.
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Neoplasias Colorrectales , Mucinas , Humanos , Estudios de Casos y Controles , LDL-Colesterol , Homeostasis , Mucinas/genética , Neoplasias Colorrectales/genética , Mucina 4/genéticaRESUMEN
Stroke is the second leading cause of death in the world. Approximately 80% of strokes are ischemic in origin. Many risk factors have been linked to stroke, including an increased level of plasminogen activator inhibitor-1 (PAI-1). PAI-1 levels increase and remain elevated in blood during the acute phase of ischemic stroke, which can impair fibrinolytic activity, leading to coronary artery disease and arterial thrombotic disorders. Here, we present a case-control study of 574 stroke patients and 425 controls seen for routine health examination or treatment for nonspecific dizziness, nonorganic headache, or anxiety for positive family history of stroke at the Bundang Medical Center in South Korea. Polymorphisms in PAI-1 were identified by polymerase chain reaction/restriction fragment length polymorphism analysis using genomic DNA. Specifically, three variations (-675 4G>5G, 10692T>C, and 12068G>A) were linked to a higher overall prevalence of stroke as well as a higher prevalence of certain stroke subtypes. Haplotype analyses also revealed combinations of these variations (-844G>A, -675 4G>5G, 43G>A, 9785A>G, 10692T>C, 11053T>G, and 12068G>A) that were significantly associated with a higher prevalence of ischemic stroke. To the best of our knowledge, this is the first strong evidence that polymorphic sites in PAI-1 promoter and 3'-UTR regions are associated with higher ischemic stroke risk. Furthermore, the PAI-1 genotypes and haplotypes identified here have potential as clinical biomarkers of ischemic stroke and could improve the prognosis and future management of stroke patients.
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Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Estudios de Casos y Controles , Pueblos del Este de Asia/genética , Predisposición Genética a la Enfermedad , Genotipo , Accidente Cerebrovascular Isquémico/genética , Inhibidor 1 de Activador Plasminogénico/genéticaRESUMEN
Recurrent pregnancy loss (RPL) affects 1% to 5% of women, with devastating effects on both reproductive health and psychological well-being. Homeobox (HOX) transcript antisense RNA (HOTAIR) is a long non-coding RNA (lncRNA) produced by HOXC; it plays a major role in invasion and development of ovarian and other cancers. The aim of the present study was to analyze effects of HOTAIR polymorphisms (rs4759314 A>G, rs920778 T>C, rs1899663 G>T, and rs7958904 G>C) on RPL in Korean women. A total of 403 women with RPL and 383 healthy women were selected for this study. Genotyping analysis was performed with the polymerase chain reaction, restriction fragment length polymorphism, and the TaqMan genotyping assay. Clinical characteristics were compared using Student's unpaired t-test and the chi-square test for categorical variables. Logistic regression was performed to evaluate associations between single nucleotide polymorphisms and RPL incidence. In all assays, p < 0.05 was considered significant. HOTAIR polymorphisms rs4759314A>G and rs920778T>C were highly associated with increased risk of RPL, specifically the haplotypes rs4759314A>G/rs1899663G>T (G-T) and rs4759314A>G/rs920778 T>C (G-C). These associations were maintained in haplotypes that contained three polymorphisms (rs4759314 A>G, rs920778 T>C, and rs1899663 G>T) A-C-G, G-T-G, and G-T-T, further indicating that the HOTAIR rs4759314 and rs920778 polymorphisms play significant roles in idiopathic RPL in Korean women.
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Aborto Habitual , ARN Largo no Codificante , Femenino , Humanos , Embarazo , Aborto Habitual/genética , Pueblo Asiatico/genética , Predisposición Genética a la Enfermedad , República de Corea , ARN Largo no Codificante/genéticaRESUMEN
PURPOSE: Rapid sequence intubation (RSI) using sedatives and neuromuscular blocking agents (NMBAs) is recommended for pediatric emergency endotracheal intubation (ETI), but is not frequently performed in Korea. This study aimed to verify factors associated with the underuse of RSI medications. MATERIALS AND METHODS: This multicenter retrospective study reviewed patients aged under 18 years who underwent an ETI within 24 hours of arrival at the emergency department between 2016 and 2019. Any cases of ETI during cardiopulmonary resuscitation were excluded. We investigated the characteristics of the patients, intubators, RSI medications, and outcomes. The study cases were classified into no-medication, sedative-only, and sedative-with-NMBA groups. Multivariable logistic regression analysis of RSI medication use was conducted. RESULTS: A total of 334 cases with a median age of 3.4 years were included in this study. Sedatives and NMBAs were used in 63.8% and 32.9%, respectively. In comparing the no-medication (n=121), sedative-only (n=103), and sedative-with-NMBA (n=110) groups, patient age (median; 1.0 year vs. 2.8 years vs. 11.3 years; p<0.001), underlying medical conditions (77.7% vs. 56.3% vs. 36.4%; p<0.001), and pediatricians as intubators (76.9% vs. 54.4% vs. 17.3%; p<0.001) were different. The factors that influenced sedatives with NMBA use were patient age [for a year increment; adjusted odds ratio (aOR), 1.182; 95% confidence interval (CI), 1.120-1.249], no underlying medical conditions (aOR, 2.109; 95% CI, 1.093-4.070), and intubators other than pediatricians (aOR, 5.123; 95% CI, 2.257-11.626). CONCLUSION: RSI accounted for 32.9% of pediatric emergency ETI in Korea. The underuse of RSI medications is associated with younger patient age, underlying medical conditions, and pediatricians as intubators.
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Reanimación Cardiopulmonar , Bloqueantes Neuromusculares , Adolescente , Anciano , Niño , Preescolar , Humanos , Hipnóticos y Sedantes/uso terapéutico , Intubación Intratraqueal , Bloqueantes Neuromusculares/uso terapéutico , Estudios RetrospectivosRESUMEN
(1) Background: First-pass success (FPS) of endotracheal intubation is more challenging in children than in adults. We aimed to identify factors associated with FPS of intubation in acute care settings. (2) Methods: We analyzed data of children aged <10 years who underwent intubation within ≤24 h of arrival at four Korean emergency departments (2016−2019). Variables were compared according to FPS. A logistic regression was performed to quantify the association of factors with FPS. An experienced intubator was defined as a senior resident or a specialist. (3) Results: Of 280 children, 169 (60.4%) had FPS. The children with FPS were older (median age, 23.0 vs. 11.0 months; p = 0.018), were less frequently in their infancy (36.1% vs. 50.5%; p = 0.017), and were less likely to have respiratory compromise (41.4% vs. 55.0%; p = 0.030). The children with FPS tended to be more often intubated by experienced intubators than those without FPS (87.0% vs. 78.4%; p = 0.057). Desaturation was rarer in those with FPS. Factors associated with FPS were experienced intubators (aOR, 1.93; 95% CI, 1.01−3.67) and children's age ≥12 months (1.84; 1.13−3.02). (4) Conclusion: FPS of intubation can be facilitated by deploying or developing clinically competent intubators, particularly for infants, in acute care settings.
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Recurrent pregnancy loss (RPL) is typically defined as two or more consecutive pregnancy losses prior to 20 weeks of gestation. Although the causes of idiopathic RPL are not completely understood, vascular development and glucose concentration were reported to correlate with the pregnancy loss. The TGF-ß signaling pathway which plays a significant role in pregnancy is activated by the interaction between high glucose and SMAD signaling and affects the vascular cells. SMAD5 and RUNX-1 are involved in the TGF-ß signaling pathway and contribute to advanced glycation end products (AGEs) production and vascular development. FN3KRP, a newly described gene, is also associated with vascular diseases and suggested to relate to AGEs. Therefore, in the present study, we investigated associations between RPL risk and genetic polymorphisms of SMAD5, FN3KRP, and RUNX-1 in 388 women with RPL and 280 healthy control women of Korean ethnicity. Participants were genotyped using real-time polymerase chain reaction and restriction fragment length polymorphism assay to determine the frequency of SMAD5 rs10515478 C>G, FN3KRP rs1046875 G>A, and RUNX-1 rs15285 G>A polymorphisms. We found that women with RPL had lower likelihoods of the FN3KRP rs1046875 AA genotype (adjusted odds ratio (AOR), 0.553; p = 0.010) and recessive model (AOR, 0.631; p = 0.017). Furthermore, combination analysis showed that SMAD5 rs10515478 C>G and FN3KRP rs1046875 G>A mutant alleles were together associated with reduced RPL risk. These findings suggest that the FN3KRP rs1046875 G>A polymorphism has a significant role on the prevalence of RPL in Korean women. Considering that it is the first study indicating a significant association between FN3KRP and pregnancy disease, RPL, our results suggest the need for further investigation of the role of FN3KRP in pregnancy loss.
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Recurrent pregnancy loss (RPL) is the loss of two or more consecutive pregnancies before 20 weeks of gestational age. Our study investigated whether mucin 4 (MUC4) polymorphisms are associated with RPL. MUC polymorphisms (rs882605 C>A, rs1104760 A>G, rs2688513 A>G, rs2258447 C>T, and rs2291652 A>G) were genotyped in 374 women with RPL and 239 controls of Korean ethnicity using polymerase chain reaction-restriction fragment length polymorphism analysis and the TaqMan probe SNP genotyping assay. Differences in genotype frequencies between cases of RPL and the controls were compared. MUC4 rs882605 C>A and rs1104760 A>G polymorphisms were associated with increased incidence of RPL in three and four or more pregnancy loss patients. The haplotype analyses showed a tendency for the allelic effect including the association of MUC4 rs882605 A and rs1104760 G alleles with increased incidence of RPL. In addition, the MUC4 rs882605 CA/MUC4 rs2258447 CC genotype combination was associated with increased RPL prevalence. The two exonic polymorphisms lead to amino acid changes of protein and may act as pathogenic variants for RPL. In conclusion, the MUC4 rs882605 C>A and MUC4 rs1104760 A>G polymorphisms were associated with the susceptibility of RPL and we considered them as potential biomarkers for RPL.
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Aborto Habitual , Mucina 4 , Aborto Habitual/genética , Estudios de Casos y Controles , Femenino , Humanos , Mucina 4/genética , Polimorfismo de Nucleótido Simple/genética , Embarazo , República de CoreaRESUMEN
Coronary artery disease (CAD), a leading cause of death worldwide, has a complex etiology comprising both traditional risk factors (type 2 diabetes, dyslipidemia, arterial hypertension, and cigarette smoking) and genetic factors. Vascular endothelial growth factor (VEGF) notably contributes to angiogenesis and endothelial homeostasis. However, little is known about the relationship between CAD and VEGF polymorphisms in Koreans. The aim of this study is to investigate the associations of 2 VEGF promoter region polymorphisms (−1154G>A [rs1570360], −1498T>C [rs833061]) and 4 VEGF 3'-UTR polymorphisms (+936C>T [rs3025039], +1451C>T [rs3025040], +1612G>A [rs10434], and +1725G>A [rs3025053]) with CAD susceptibility in Koreans. We studied 885 subjects: 463 CAD patients and 422 controls. Genotyping was conducted with polymerase chain reaction-restriction fragment length polymorphism analysis and TaqMan allelic discrimination assays, and the genotype frequencies were calculated. We then performed haplotype and genotype combination analyses and measured the associations between VEGF polymorphisms and clinical variables in both the CAD patients and control subjects. We detected statistically significant associations between CAD and certain VEGF allele combinations. In the haplotypes of 5 single-nucleotide polymorphisms, the VEGF allele combination −1154A/+936T was associated with a decreased prevalence of CAD (A-T-T-G-G of VEGF −1154G>A/−1498T>C/+936C>T/+1612G>A/+1725G>A, AOR = 0.077, p = 0.021). In contrast, the VEGF allele combinations −1498T/+1725A and −1498T/+1612A/+1725A were associated with an increased prevalence of CAD (G-T-C-C-A of VEGF −1154G>A/−1498T>C/+936C>T/+1451C>T/+1725G>A, AOR = 1.602, p = 0.047; T-C-C-A-A of VEGF −1498T>C/+936C>T/+1451C>T/+1612G>A/+1725G>A, AOR = 1.582, p = 0.045). Gene−environment combinatorial analysis showed that the combination of the VEGF +1725AA genotype and several clinical factors (e.g., body mass index, hemoglobin A1c, and low-density lipoprotein cholesterol) increased the risk of CAD. Therefore, we suggest that VEGF polymorphisms and clinical factors may impact CAD prevalence.
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Coronavirus disease 2019 (COVID-19) changed the epidemiology of various diseases. The present study retrospectively investigates the epidemiologic and clinical changes in pediatric intussusception for ages ≤ 7 years before (February 2019-January 2020) and after (February 2020-January 2021) the COVID-19 outbreak in a single pediatric emergency department of a university-affiliated tertiary hospital. The incidence of communicable diseases-defined as infectious diseases with the potential for human-to-human transmission via all methods, non-communicable diseases, and intussusception were decreased following the COVID-19 outbreak (15,932 to 3880 (24.4%), 12,994 to 8050 (62.0%), and 87 to 27 (31.0%), respectively). The incidence of intussusception correlated significantly with the change in incidence of communicable diseases (Poisson log-linear regression, odds ratio = 2.15, 95% CI = 1.08-4.26, and p = 0.029). Compared with the pre-pandemic period, patients of the pandemic period showed higher proportions of pathologic leading point (PLP) and hospitalization (14.8% vs. 2.3% and 18.5% vs. 4.6%, respectively), lower base excesses (-4.8 mmol/L vs. -3.6 mmol/L), and higher lactate concentrations (1.7 mmol/L vs. 1.5 mmol/L). The incidence of pediatric intussusception decreased after the COVID-19 pandemic. This reduced incidence may be related to the reduced incidence of communicable diseases. However, the proportions of more severe diseases and PLPs were higher after the COVID-19 pandemic.
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OBJECTIVES: This study aimed to investigate the feasibility of point-of-care ultrasound (POCUS) for diagnosing hypertrophic pyloric stenosis (HPS) in the emergency department (ED). METHODS: A retrospective study was conducted in infants aged younger than 90 days who were brought to the ED due to vomiting between January 2015 and December 2019. Of these, infants who were clinically suspected of having HPS and underwent ultrasound were included and categorized into 3 groups: POCUS only, POCUS followed by radiologist-performed ultrasound (RADUS), and RADUS only. All confirmative diagnoses of HPS were made by RADUS. The diagnostic performance of POCUS was analyzed, and the ED patient flow was compared between the POCUS-performed (POCUS only or POCUS followed by RADUS) and RADUS-only groups. RESULTS: Overall, 171 patients with a median age of 34 days were included. Of these, 79 patients (46.2%) underwent POCUS only, and none had HPS; 50 patients (29.2%) underwent POCUS followed by RADUS; and 42 patients (24.5%) underwent RADUS only. Overall, 41 patients (24.0%) were diagnosed with HPS, and POCUS showed a sensitivity of 96.6% and specificity of 94.0%. In the total cohort, length of stay in the ED (EDLOS) was shorter in the POCUS-performed group than in the RADUS-only group (2.6 vs 3.8 hours, P = 0.015). Among non-HPS patients, time to disposition (1.8 vs 2.7 hours, P = 0.005) and EDLOS (2.0 vs 3.0 hours, P = 0.004) were shorter in the POCUS-performed group than in the RADUS-only group. Performing POCUS followed by RADUS did not significantly delay the treatment among HPS patients. CONCLUSIONS: Point-of-care ultrasound is accurate and useful for diagnosing HPS and improved the ED patient flow by reducing EDLOS and door-to-disposition time in non-HPS patients.
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Sistemas de Atención de Punto , Estenosis Hipertrófica del Piloro , Servicio de Urgencia en Hospital , Estudios de Factibilidad , Humanos , Lactante , Estenosis Hipertrófica del Piloro/diagnóstico por imagen , Estudios Retrospectivos , UltrasonografíaRESUMEN
The aim of this study was to re-validate the changes in natural killer (NK) cell cytotoxicity and cytokines related to T cells after Sil-Q1 (SQ; silk peptide) supplementation in a larger pool of Korean adults with minimized daily dose of SQ and controlling seasonal influence compared to the previous study. A total of 130 subjects were randomly assigned (1:1) to consume either 7.5 g of SQ or placebo for 8 weeks. NK cell cytotoxicity and cytokines were measured at T0 (baseline) and T8 (follow-up). Comparing the NK cell cytotoxicity values at T0 and T8 within each group, the cytotoxicity at all effector cell (E) to target cell (T) ratios of 10:1, 5:1, 2.5:1, and 1.25:1 was significantly increased in the SQ group at T8. Additionally, significant differences in the changed value (Δ, subtract baseline values from follow-up values) comparison between the groups at E:T = 10:1, 5:1, and 2.5:1 were found. As a secondary endpoint, the interleukin (IL)-12 level in the SQ group was significantly increased for 8 weeks, and Δ IL-12 in the SQ group was greater than in the placebo group. In conclusion, the present study showed considerable practical implications of SQ supplementation. Thus, SQ is an effective and safe functional food supplement for enhancing immune function.