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Background/Aims@#Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression. @*Methods@#Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD. @*Results@#After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort. @*Conclusions@#We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.
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【Objective】 To compare the killing effects of different concentrations of gentamicin (0, 10, 20, 50, 100, and 200 μg/mL) on uropathogenic Escherichia coli (UPEC) and its cytotoxicities on urinary urothelial cells and inflammatory cells such as macrophages in vitro. 【Methods】 The killing effects of different concentrations of gentamicin on different amounts (108, 107, and 106) of UPEC strain J96 were compared. The cytotoxicities of different concentrations of gentamicin on primary cultured male C57BL/6 mouse renal tubular epithelial cells, mouse macrophages and human bladder epithelial cell line J82 at different time points (2 h and 24 h) were detected by CCK-8 assay. According to the experiments above, we chose appropriate gentamicin concentrations and incubation time in in vitro cell culture experiments to verify J96 adhesion and invasion to mouse renal tubular epithelial cells or phagocytosis and clearance of J96 by mouse macrophages. 【Results】 The killing effect of gentamicin (≥10 μg/mL) on J96 was stronger than that of 1% P/S (P<0.000 1). High concentrations of gentamicin (≥100 μg/mL) could kill up to 108 J96 within 30 min. 50 μg/mL gentamincin treatment for 2 h was cytotoxic for human bladder epithelial cell line J82 (P<0.05). 【Conclusion】 The appropriate concentration and duration of gentamicin treatment for different cells in vitro were determined. Urothelial cells, especially human bladder epithelial cell line J82, were more sensitive to gentamicin.
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Objectives@#Adjusting for potential confounders is crucial for producing valuable evidence in outcome studies. Although numerous studies have been published using the Korea National Health Insurance Claim Database, no study has critically reviewed the methods used to adjust for confounders. This study aimed to review these studies and suggest methods and applications to adjust for confounders. @*Methods@#We conducted a literature search of electronic databases, including PubMed and Embase, from January 1, 2021 to December 31, 2022. In total, 278 studies were retrieved. Eligibility criteria were published in English and outcome studies. A literature search and article screening were independently performed by 2 authors and finally, 173 of 278 studies were included. @*Results@#Thirty-nine studies used matching at the study design stage, and 171 adjusted for confounders using regression analysis or propensity scores at the analysis stage. Of these, 125 conducted regression analyses based on the study questions. Propensity score matching was the most common method involving propensity scores. A total of 171 studies included age and/or sex as confounders. Comorbidities and healthcare utilization, including medications and procedures, were used as confounders in 146 and 82 studies, respectively. @*Conclusions@#This is the first review to address the methods and applications used to adjust for confounders in recently published studies. Our results indicate that all studies adjusted for confounders with appropriate study designs and statistical methodologies; however, a thorough understanding and careful application of confounding variables are required to avoid erroneous results.
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Background@#Post-transplant diabetes mellitus (PTDM) is a risk factor for poor outcomes after kidney transplantation (KT). However, the outcomes of KT have improved recently. Therefore, we investigated whether PTDM is still a risk factor for mortality, major atherosclerotic cardiovascular events (MACEs), and graft failure in KT recipients. @*Methods@#We studied a retrospective cohort of KT recipients (between 1994 and 2017) at a single tertiary center, and compared the rates of death, MACEs, overall graft failure, and death-censored graft failure after KT between patients with and without PTDM using Kaplan-Meier analysis and a Cox proportional hazard model. @*Results@#Of 571 KT recipients, 153 (26.8%) were diagnosed with PTDM. The mean follow-up duration was 9.6 years. In the Kaplan- Meier analysis, the PTDM group did not have a significantly increased risk of death or four-point MACE compared with the non-diabetes mellitus group (log-rank test, P=0.957 and P=0.079, respectively). Multivariate Cox proportional hazard models showed that PTDM did not have a negative impact on death or four-point MACE (P=0.137 and P=0.181, respectively). In addition, PTDM was not significantly associated with overall or death-censored graft failure. However, patients with a long duration of PTDM had a higher incidence of four-point MACE. @*Conclusion@#Patient survival and MACEs were comparable between groups with and without PTDM. However, PTDM patients with long duration diabetes were at higher risk of cardiovascular disease.
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Purpose@#. This retrospective study was to investigate the survival and complication rates of posterior single implant according to the implant diameters, lengths and position. @*Materials and methods@#. Patients who had been restored single implant prosthesis in the posterior area by the three prosthodontists in the department of prosthodontics, Daejeon dental hospital of Wonkwang university, in the period from February 2014 to May 2018 were selected for the study. A total of 505 patients with 697 implants were observed. The survival and complications of implants were investigated using electronic medical records and radiographs. Fixture diameters, lengths, position, patient’s sex and age were assessed as possible factor affecting the survival and complications of implants. @*Results@#. 3-year cumulative survival rates of posterior single implants were 98.5% and 5-year cumulative survival rates were 94.4%. 5-year cumulative survival rates were higher in implants with diameter > 4.0 mm (97.0%) than implants with diameter ≤ 4.0 mm (89.5%), and in females (98.8%) than males (92.4%). There were statistically significant differences (P 4.0 mm than implants with diameter ≤ 4.0 mm and in females than males. Abutment screw loosening which was the most commonly occurring complication occurred more frequently in the lower molar region, in males than females, and in patients aged < 65 years than patients aged ≥ 65 years. There were statistically significant differences.
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Objective:To investigate the occurrence of deglutition disorders after extubation in neurosurgery patients, to explore the recovery time and influencing factors, and to provide reference for the development of nursing intervention plan for dysphagia after extubation.Methods:This was a prospective study. A total of 250 patients who underwent oral catheterization under general anesthesia in neurosurgery department and were admitted to the Tenth People′s Hospital of Tongji University from June to December 2022 were selected as the study objects by convenience sampling method. The general demographic and clinical data of the patients were collected to evaluate the occurrence of deglutition disorders after extubation. The outcome and recovery time of deglutition disorders were used as dependent variables. Kaplan-Meier method and Cox proportional hazard regression analysis were used to analyze the recovery time and influencing factors of deglutition disorders after extubation in neurosurgery patients.Results:The incidence of deglutition disorders after extubation was 35.6%(89/250) among 250 cases of neurosurgery patients under general anesthesia by endotracheal intubation, the recovery time of Deglutition Disorders after postoperative extubation was 1 - 16 (5.17 ± 0.43)days. ICU stay days, duration of endotracheal intubation and the first standardized swallowing assessment after extubation were the main influencing factors for the recovery of deglutition disorders in patients with dysphagia after extubation.Conclusions:For patients with deglutition disorders after extubation after neurosurgery, ICU stay days, duration of endotracheal intubation and the first standardized swallowing assessment after extubation affect the process of swallowing function recovery. Medical staff should focus on the risk groups and develop targeted nursing interventions to improve the outcome of patients.
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γ-aminobutyric acid can be produced by a one-step enzymatic reaction catalyzed by glutamic acid decarboxylase. The reaction system is simple and environmentally friendly. However, the majority of GAD enzymes catalyze the reaction under acidic pH at a relatively narrow range. Thus, inorganic salts are usually needed to maintain the optimal catalytic environment, which adds additional components to the reaction system. In addition, the pH of solution will gradually rise along with the production of γ-aminobutyric acid, which is not conducive for GAD to function continuously. In this study, we cloned the glutamate decarboxylase LpGAD from a Lactobacillus plantarum capable of efficiently producing γ-aminobutyric acid, and rationally engineered the catalytic pH range of LpGAD based on surface charge. A triple point mutant LpGADS24R/D88R/Y309K was obtained from different combinations of 9 point mutations. The enzyme activity at pH 6.0 was 1.68 times of that of the wild type, suggesting the catalytic pH range of the mutant was widened, and the possible mechanism underpinning this increase was discussed through kinetic simulation. Furthermore, we overexpressed the Lpgad and LpgadS24R/D88R/Y309K genes in Corynebacterium glutamicum E01 and optimized the transformation conditions. An optimized whole cell transformation process was conducted under 40 ℃, cell mass (OD600) 20, 100 g/L l-glutamic acid substrate and 100 μmol/L pyridoxal 5-phosphate. The γ-aminobutyric acid titer of the recombinant strain reached 402.8 g/L in a fed-batch reaction carried out in a 5 L fermenter without adjusting pH, which was 1.63 times higher than that of the control. This study expanded the catalytic pH range of and increased the enzyme activity of LpGAD. The improved production efficiency of γ-aminobutyric acid may facilitate its large-scale production.
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Glutamate Decarboxylase/genetics , Lactobacillus plantarum/genetics , Catalysis , gamma-Aminobutyric Acid , Hydrogen-Ion Concentration , Glutamic AcidABSTRACT
Purpose@#This study aimed to compare and evaluate the shear bond strength between various temporary prostheses resin blocks fabricated by subtractive and additive manufacturing methods bonded to self-curing reline resin. @*Materials and methods@#The experimental groups were divided into 4 groups according to the manufacturing methods of the resin block specimens and each specimen was fabricated by subtractive manufacturing (SM), additive manufacturing stereolithography apparatus manufacturing (AMS), additive manufacturing digital light processing manufacturing (AMD) and conventional self-curing (CON). To bond the resin block specimens and self-curing resin, the reline resin was injected and polymerized into the same location of each resin block using a silicone mold. The shear bond strength was measured using a universal testing machine, and the surface of the adhesive interface was examined by scanning electron microscopy. To compare between groups, one-way ANOVA was done followed by Tukey post hoc test (α = 0.05). @*Results@#The shear bond strength showed higher values in the order of CON, SM, AMS, and AMD group. There were significant differences between CON and AMS groups, as well as between CON and AMD groups. but there were no significant differences between CON and SM groups (P > .05). There were significant differences between SM and AMD groups, but there were no significant differences between SM and AMS groups. The AMS group was significantly different from the AMD group (P < .001). The most frequent failure mode was mixed failures in CON and AMS groups, and adhesive failures in SM and AMD groups. @*Conclusion@#The shear bond strength of SM group showed lower but not significant bond strength compared to the CON group. The additive manufacturing method groups (AMS and AMD) showed significantly lower bond strength than the CON group, with the AMD group the lowest. There was also a significant difference between the AMD and SM group.
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Objective:To establish a questionnaire regarding knowledge, attitude and practice on family-centered sensory stimulation among ICU nurses and examine its reliability and validity, so as to provide basis for subsequent nursing training targeted sensory stimulation.Methods:Based on the theory of knowledge, attitude and practice, the questionnaire of family-centered sensory stimulation for ICU nurses was constructed by literature review, semi-structured interview, expert consultation and questionnaire survey. From March to April 2022, convenience sampling was used to investigate 253 ICU nurses from 8 general hospitals in four provinces and cities to test the reliability and validity of the questionnaire.Results:The final questionnaire included 33 items in 3 dimensions, and the cumulative variance contribution rate was 76.248%. The average content validity index of the total questionnaire was 0.970, and the content validity index of each item ranged from 0.894 to 1.000. The Cronbach′s α coefficient of the questionnaire was 0.965, the split-half reliability was 0.799, and the retest reliability was 0.818 after 2 weeks.Conclusions:It has good validity and reliability in this questionnaire and can be used as a preliminary assessment tool to understand the status quo of family-centered sensory stimulation in ICU nurses.
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Objectives@#Orthognathic surgery is a corrective intervention for maxillofacial deformities. Bleeding is a major concern for oral and maxillofacial surgeons. Various agents, such as hemocoagulase, tranexamic acid, and aprotinin have been developed to reduce intraoperative bleeding and transfusion requirements. Therefore, in this study we aimed to investigate the effects of hemocoagulase and tranexamic acid, as well as their simultaneous use, to reduce bleeding during orthognathic surgery. @*Patients and Methods@#This retrospective study included patients who had undergone simultaneous orthognathic surgery of the maxilla and mandible between January 2013 and September 2022 and were classified into three groups based on drugs administered: hemocoagulase (Botropase), tranexamic acid, and a combination of both drugs. We recorded patient age, sex, weight, blood loss, and duration of surgery. Red blood cell (RBC), hemoglobin, hematocrit, and platelet levels were measured before, immediately after, and one day after surgery. @*Results@#No statistically significant differences were found in blood loss, RBC, hemoglobin, hematocrit, or platelet levels between any of the groups.There were no differences in the drug effects between Le Fort I and bilateral mandibular sagittal split osteotomies, with or without double genioplasty.However, there were significant reductions in RBC, hemoglobin, hematocrit, and platelet levels during genioplasty. @*Conclusion@#Tranexamic acid, hemocoagulase, and their combination had similar efficacy in patients who underwent Le Fort Ⅰ and bilateral mandibu-lar sagittal split osteotomies with and without genioplasty.
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End-stage renal disease (ESRD) patients undergoing outpatient hemodialysis (HD) and home peritoneal dialysis (PD) are high risk population of severe and critical types caused by SARS-CoV-2 infection. In order to improve the quality of diagnosis and treatment in dialysis patients with SARS-CoV-2 infection, we wrote this recommendation for primary care clinicians. During the epidemic period of SARS-CoV-2 infection, all patients should be instructed to strengthen self-management. Once the SARS-CoV-2 infection was found in dialysis patients, early stratified management should be carried out within 72 hours after the first positive nucleic acid or antigen test results, which includes early antiviral therapy, early recognition, and transferring severe patients from community or primary hospital to a referral hospital promptly. Guidance for dietary and sports rehabilitation after SARS-CoV-2 infection should also be started as soon as possible.
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ObjectiveTo investigate the characteristics of traditional Chinese medicine syndrome and the evolution of pathogenesis in different stages of atherosclerotic thrombotic cerebral infarction （ATCI）. MethodsClinical data of 3088 ATCI patients from 8 hospitals in 6 provinces and cities were collected from the hospital information system during January 1， 2015 to December 31， 2019. After staging and counting clinical symptoms， common factors were extracted using the principal component analysis method in factor analysis. Cluster analysis was then carried out on the basis of the factor analysis. The results of the combination of the evidence element identification， cluster analysis and expert discussion were used to discuss the evidence of the different disease stages of atherosclerotic cerebral infarction. ResultsOf the 3088 ATCI patients included， 2290 cases were in the acute phase and 798 in the non-acute phase. Excluding the main symptoms of ischaemic stroke， such as numbness and weakness of limbs， unfavourable movement， unfavourable speech and dizziness， we identified 84 indicators with a frequency ≥5% of the four diagnostic information variables. Of these， 36 indicators were observed in the acute phase and 35 in the non-acute phase. Factor analysis extracted 14 common factors from each phase. We selected factors with a loading coefficient ＞0.3 for evidence determination. These 14 groups of common factors were used as variables for clustering. After clustering， the acute， non-acute phase were each divided into 5 categories. Based on a combination of clinical practice and expert opinion， the symptoms identified in the acute period were syndrome of deficiency of both qi and yin， syndrome of blockade of wind-phlegm-static blood （36.07%）， syndrome of qi deficiency and blood stasis （20.74%）， syndrome of upward disturbance of wind-fire （15.15%）， syndrome of stirring wind due to yin deficiency （9.43%）， and syndrome of spleen deficiency and liver hyperactivity （3.80%）. In the non-acute phase， the symptoms were qi and yin deficiency with syndrome of qi stagnation and blood stasis （45.49%）， syndrome of deficiency of both qi and yin （20.05%）， syndrome of qi stagnation and blood stasis （16.42%）， spleen-kidney deficiency syndrome （8.52%）， and syndrome of hyperactivity of liver yang （4.89%）. ConclusionThe acute phase of AICI is mainly characterized by blood stasis， fire， internal wind， hyperactivity of yang， qi deficiency and yin deficiency， while the non-acute phase is characterized by yin deficiency， qi deficiency， blood stasis and qi stagnation. The main pathomechanism of ATCI involves deficiency of qi and yin， as well as obstruction of the channels by phlegm and blood stasis， and the fundamental pathomechanism is deficiency of qi and yin.
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Objectives@#Measuring the quality of care is paramount to inform policies for healthcare services. Nevertheless, little is known about the quality of primary care and acute care provided in Korea. This study investigated trends in the quality of primary care and acute care. @*Methods@#Case-fatality rates and avoidable hospitalization rates were used as performance indicators to assess the quality of primary care and acute care. Admission data for the period 2008 to 2020 were extracted from the National Health Insurance Claims Database. Case-fatality rates and avoidable hospitalization rates were standardized by age and sex to adjust for patients’ characteristics over time, and significant changes in the rates were identified by joinpoint regression. @*Results@#The average annual percent change in age-/sex-standardized case-fatality rates for acute myocardial infarction was -2.3% (95% confidence interval, -4.6 to 0.0). For hemorrhagic and ischemic stroke, the age-/sex-standardized case-fatality rates were 21.8% and 5.9%, respectively in 2020; these rates decreased since 2008 (27.1 and 8.7%, respectively). The average annual percent change in age-/sex-standardized avoidable hospitalization rates ranged from -9.4% to -3.0%, with statistically significant changes between 2008 and 2020. In 2020, the avoidable hospitalization rates decreased considerably compared with the 2019 rate because of the coronavirus disease 2019 pandemic. @*Conclusions@#The avoidable hospitalization rates and case-fatality rates decreased overall during the past decade, but they were relatively high compared with other countries. Strengthening primary care is an essential requirement to improve patient health outcomes in the rapidly aging Korean population.
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Objective@#: Deciphering the anatomy of posterior communicating artery (PCoA) aneurysms in relation to surrounding structures is essential to determine adjuvant surgical procedures. However, it is difficult to predict surgical structures through preoperative imaging studies. We aimed to present anatomical structures using preoperative high-resolution three-dimensional proton densityweighted turbo spin-echo magnetic resonance (PDMR) imaging with simple classification. @*Methods@#: From January 2020 to April 2022, 30 patients underwent PDMR before microsurgical clipping for unruptured PCoA aneurysms in a single tertiary institute. We retrospectively reviewed the radiographic images and operative data of these patients. The structural relationship described by PDMR and intraoperative findings were compared. Subsequently, we classified aneurysms into two groups and analyzed the rate of adjuvant surgical procedures and contact with the surrounding structures. @*Results@#: Correlations between preoperative PDMR predictions and actual intraoperative findings for PCoA aneurysm contact to the oculomotor nerve, temporal uncus, and anterior petroclinoid fold (APCF) reported a diagnostic accuracy of 0.90, 0.87, and 0.90, respectively. In 12 patients (40.0%), an aneurysm dome was located on the plane of the oculomotor triangle and was classified as the infratentorial type. Compared to the supratentorial type PCoA aneurysm, adjuvant procedures were required more frequently (66.7% vs. 22.2%, p=0.024) for infratentorial type PCoA aneurysm clipping. @*Conclusion@#: Preoperative PCoA aneurysm categorization using PDMR can be helpful for predicting surgical complexity and planning of microsurgical clipping.
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To study the parental origin and cell stage of nondisjunction in sex chromosome aneuploidies. Retrospectiving and analyzing the results of 385 cases of SCA confirmed by QF-PCR and karyotype analysis in the prenatal diagnosis center of Guangzhou Women and Children Medical Center from January 2015 to December 2020. The types of samples and prenatal diagnosis indications were analyzed. The parental origin and cell stage of nondisjunction in sex chromosome aneuploidies analyzed by comparing the short tandem repeat (STR) peak patterns of samples from fetuses and maternal peripheral blood. The results show that (1) There were 324 cases of nonmosaic SCA, 113 cases (113/324, 34.9%) were 45, XO, 118 cases (118/324, 36.4%) were 47, XXY, 48 cases (48/324, 14.8%) were 47, XXX and 45 cases (45/324, 13.9%) were 47, XYY. 68 (45/324, 60.2%) cases of 45, X were detected in villus samples. The other SCA cases were mainly detected in amniotic fluid samples. There were 61 mosaic SCA samples, 58(58/61, 95.1%) of mosaic SCA samples were mosaic 45, X. (2) The top two indications of 45, X cases are increased nuchal translucency(53/113, 46.9%) and fetal cystic hygroma (41/113, 36.3%), while the most common indication of other types of SCA was high risk of NIPT(170/272, 62.5%). (3) Among 45, X cases, there were 88 cases (88/113, 77.9%) inherit their single X chromosome from their mother and 25 cases (25/119, 22.1%) from their father. In 47, XXY samples, 47 cases (47/118, 39.8%) of chromosome nondisjunction occurred in meiosis stage Ⅰ of oocytes, 51 cases (51/118, 43.2%) occurred in meiosis stage Ⅰ of spermatocytes, and 20 cases (20/118, 16.9%) occurred in meiosis stage Ⅱ of oocytes. Among 47, XXX samples, 29 cases (29/48, 60.4%) of X chromosome nondisjunction occurred in meiosis stage Ⅰof oocytes, 15 cases (15/48, 31.3%) occurred in meiosis stage Ⅱ of oocytes, and 4 cases (4/48, 8.3%) occurred in meiosis stage Ⅱ of spermatocytes. In summary , the cases of 45, X were mainly diagnosed by villous samples for abnormal ultrasound findings. The other cases of SCA were mainly diagnosed by amniocentesis samples for abnormal NIPT results. Different types of SCA, the origin and occurrence period of sex chromosome nondisjunction were different.
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Female , Humans , Male , Pregnancy , Aneuploidy , Karyotyping , Prenatal Diagnosis/methods , Sex Chromosome Aberrations , Sex Chromosomes/geneticsABSTRACT
Digital health is rapidly growing worldwide and its area is expanding from wellness to treatment due to digital therapeutics (DTx). This study compared DTx in the Korean context with other countries to better understand its political and practical implications. DTx is generally the same internationally, often categorized as software as a medical device. It provides evidence-based therapeutic interventions for medical disabilities and diseases.Abroad, DTx support entailed state subsidies and fundraising and national health insurance coverage. In the case of national health insurance coverage, most cases were applied to mental diseases. Moreover, in Japan, DTx related to hypertension will possibly be under discussion for national health insurance coverage in 2022. In overseas countries, coverage was decided only when the clinical effects were equivalent to those provided by existing technology, and in the UK, real usage data for DTx and associated evaluations were reflected by national health coverage determination. Prices were either determined through closed negotiations with health insurance operating agencies and manufacturers or established based on existing technology. Concerning the current situation, DTx dealing with various diseases including hypertension are expected to be developed near in the future, and the demand for use and compensation will likely increase. Therefore, it is urgent to define and prepare for DTx, relevant support systems, and health insurance coverage listings. Several support systems must be considered, including government subsidies, science/technology funds, and health insurance.
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Purpose@#This descriptive study was conducted to evaluate the effect of compassionate competence, communication skills, and nursing work environment on person-centered care in general hospital nurses who cared for cancer patients. @*Methods@#For the research, this study collected data from August 1 to September 1, in 2021 with 111 nurses who cared for cancer patients at three different general hospitals in Chungbuk. The data were analyzed using descriptive statistics, t-tests, Mann-Whitney U test, ANOVA, Kruskal-Wallis test, Pearson’s correlation coefficient, stepwise multiple regression with the SPSS 23.0 program. @*Results@#Factors influencing personcentered care in general hospital nurses who cared for cancer patients were compassionate competence (β=.41, p<.001), communication skills (β=.29, p<.001), nursing work environment (β=.21, p=.002), and gender (β=.16, p=.010). These factors explained 64.0% of person-centered care (F=49.83, p<.001). @*Conclusion@#The results of this study suggests that we need to develop intervention programs to strengthen the compassionate competence and communication skills in nurses caring for cancer patients, to improve the nursing work environment, and reflect gender characteristics.
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Objective:To analyze the prenatal diagnosis results and pregnancy outcomes of conotruncal defects (CTD) fetuses, and to explore the correlation between the CTD and chromosome diseases.Methods:A total of 297 cases of invasive prenatal diagnosis and chromosome analysis were collected at the Prenatal Diagnosis Center of Guangzhou Women and Children′s Medical Center due to CTD from January 1st, 2011 to December 31th, 2019. According to ultrasonic diagnosis, CTD fetuses were divided into 6 subtypes: tetralogy of Fallot (109 cases), pulmonary atresia (30 cases), transposition of the great arteries (77 cases), double outlet right ventricle (53 cases), truncus arteriosus (14 cases) and interrupted aortic arch (14 cases). According to whether they were combined with intracardiac or extracardiac abnormalities, they were divided into simple group (134 cases), combined with other intracardiac abnormalities group (86 cases), combined with extracardiac abnormalities group (20 cases), combined with intracardiac and extracardiac abnormalities group (37 cases) and only combined with ultrasound soft marker group (20 cases), the last 4 groups were referred as non-simple types. The chromosome test results and pregnancy outcomes of each type and group were analyzed retrospectively.Results:Among the 297 CTD fetuses, the chromosome abnormality rate was 17.5% (52/297). There were 21 cases of abnormal chromosome number, 28 cases of pathogenetic copy number variantions and 3 cases of mosaics. All the 19 cases of micropathogenic fragments smaller than 5 Mb were detected by chromosomal microarray analysis (CMA). Among all the subtypes of CTD, the chromosomal abnormality rate of truncus arteriosus was the highest, at 7/14; while the rate of transposition of the great arteries was the lowest, at 5.2% (4/77). There were significant differences in the rate of chromosomal abnormalities between simple and non-simple types [10.4% (14/134) vs 23.3% (38/163); χ2 =8.428, P=0.004]. In each group, the chromosomal abnormality rate was the highest in the combined with intracardiac and extracardiac abnormalities group, at 37.8% (14/37), and the lowest in the simple group, at 10.4% (14/134). There was no significant difference in the rate of chromosomal abnormalities in all subtypes of simple group (all P>0.05). Among 112 cases of live birth, 1 case was 22q11.2 microdeletion syndrome, 5 cases of postnatal clinical diagnosis and prenatal ultrasound diagnosis were not completely consistent, 5 cases died after birth. Conclusions:The incidence of chromosomal abnormalities is high in fetuses with CTD. CTD fetuses with concurrent extrapardiac malformations are more likely to incorporate chromosomal abnormalities. CMA technology could be used as a first-line genetic detection method for CTD. After excluding chromosomal abnormalities, most of the children with CTD have good prognosis.
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We report a neonate with transaldolase deficiency caused by compound heterozygous variation of the TALDO1 gene. A pregnant woman, who had an adverse pregnancy history, was found with multiple fetal abnormalities on prenatal ultrasound and the following whole exon sequencing indicated a likely pathogenic heterozygous variation of c.462-2A>G and c.574C>T(p.R192C) in TALDO1 gene in the fetus. A body was born at 38 +1 weeks and presented dysmorphic features (cutis laxa/wrinkled skin and low-set ears, etc.), splenomegaly, anemia, abnormal liver function and coagulation. In combination with the prenatal testing results, transaldolase deficiency was diagnosed. The patients still had cutis laxa/wrinkled skin on the back of both hands and neck at one year and three months old. Therefore, for babies with hepatosplenomegaly, anemia, thrombocytopenia, coagulation dysfunction, at the same time with dysmorphic features such as cutis laxa, low-set ears, attention should be paid to the investigation of transaldolase deficiency.
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Purpose@#This study was to investigate the dentists’ experience and awareness of foreign body ingestion and aspiration during dental prosthetic treatment. @*Materials and Methods@#A survey of 157 dentists working at 108 dental institutions in Daejeon and Chungcheong provinces was carried out and frequency analysis was conducted. Chi-square test was conducted to find out the difference between the sociodemographic data and experience of foreign body ingestion and aspiration of patients and independent sample t-test was conducted to find out the difference in awareness depending on whether receiving related education. @*Results@#The percentage of dentists experiencing dropping foreign body into patients’ oral cavity was 99.4% and the percentage of dentists experiencing foreign body ingestion and aspiration of patients was 53.5%. There were more dentists who experienced foreign body ingestion and aspiration of patients in male than female, longer working career, and general practitioners than specialists (P < .05). 50.3% of the respondents received related education. When they receive related education, they had low degree of concern, high confidence in coping with situations, and low willingness to receive education in the future (P < .05). @*Conclusion@#The percentage of foreign body dropping was 16% higher in prosthetic treatment than general treatment. The percentage of dentists with experience of foreign body ingestion and aspiration of patients was 53.5%. Among them, 92.9% experienced foreign body ingestion of patients and 7.1% of them experienced foreign body aspiration of patients.