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Objective To explore a precise method with a microwave antenna for puncture of pulmonary nodules and analyze phenomena that affect the puncture results. Methods Clinical data of 107 cases with solitary malignant pulmonary nodules were collected, and the mean length of pulmonary nodules was 13.6±0.6 mm in CT axial position. A thread-hanging method was used to assist the puncture of pulmonary nodules. The procedure was successful when the needle was not withdrawn and inserted into the central region of the nodule. The success rate and complications of the pulmonary procedure were recorded. The incidence of the following phenomena were also documented: needle coercing, needle slipping, needle tip pushing, pulmonary nodule prolapsing, radial nodule deformation, nodular masking, and radial movement distance of needle tip. Results In all of 107 cases evaluated, the antenna puncture was successful in 101 cases (94.4%) but failed in 6 cases (5.6%). Pneumothorax and pulmonary hemorrhage occurred in 23 (21.5%) and 19 cases (17.8%), respectively. The following phenomena occurred: needle coercing in 9 cases (8.4%), needle slipping in 6 cases (5.6%), needle tip pushing in 19 cases (17.8%), pulmonary nodule prolapsing in 15 cases (14%), radial nodule deformation in 14 cases (13.1%), and nodular masking in 5 cases (4.7%). The mean radial adjusting distance of needle tip was 0.7±0.4 cm. Conclusion The thread-hanging method can assist in the accurate puncture of microwave antenna for pulmonary nodules. We should focus and deal with phenomena that may occur and affect the result of puncture.
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Background@#and Purpose: Each item in the instrumental activities of daily living (IADL) questionnaire has differential importance to an individual’s life functioning based on gender.However, IADL has mostly been utilized for its total score alone, without gender specificity.We identify the impact of each item on the transition from amnestic mild cognitive impairment (aMCI) to Alzheimer’s disease dementia (ADD), and determine if the impact of each item differs by gender. @*Methods@#Subjects were aMCI or ADD with a global clinical dementia rating of 0.5 or 1. The sample size was 146 men and 154 women. We used logistic regression analysis to determine the effect of each item of IADL on the transition from aMCI to ADD. @*Results@#The odds ratio (OR) for “remembering recent events” had similar values: 27.2 for men, and 27.7 for women. Gender difference was identified in the item with the highest OR value. For women, the “using transportation” item was 63.3, and for men, “conducting financial affairs” was overwhelmingly high at 89.1. @*Conclusions@#Functional decline on items with relatively higher ORs may indicate higher probability of a transition from aMCI to ADD. The OR of “conducting financial affairs” was relatively higher for both genders. In terms of gender differences, “conducting home repair” for men, and “using transportation” for women, have relatively higher impact. This study demonstrates that during the transition from aMCI to ADD, each item of IADL shows a staggered decline in functioning, and that this decline is gender-specific.
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The Korean Dementia Association (KDA) has been organizing biennial international academic conferences since 2019, with the International Conference of the KDA (IC-KDA) 2023 held in Busan under the theme ‘Beyond Boundaries: Advancing Global Dementia Solutions.’ The conference comprised 6 scientific sessions, 3 plenary lectures, and 4luncheon symposiums, drawing 804 participants from 35 countries. Notably, a Korea– Taiwan Joint Symposium addressed insights into Alzheimer’s disease (AD). Plenary lectures by renowned scholars explored topics such as microbiome-related AD pathogenesis, social cognition in neurodegenerative diseases, and genetic frontotemporal dementia (FTD). On the first day, specific presentations covered subjects like the gut–brain axis and neuroinflammation in dementia, blood-based biomarkers in AD, and updates in AD therapeutics. The second day’s presentations addressed recent issues in clinical neuropsychology, FTD cohort studies, and the pathogenesis of non-AD dementia. The Academic Committee of the KDA compiles lecture summaries to provide comprehensive understanding of the advanced dementia knowledge presented at IC-KDA 2023.
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Background@#and Purpose There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as SCN1A. However, information on other lesscommon channelopathy genes is scarce. This study aimed to explore the genetic and clinical characteristics of patients diagnosed with unusual voltage-gated sodium and potassium channelopathies related to epilepsy. @*Methods@#This observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children’s Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation. @*Results@#This study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes: SCN3A (n=1), SCN4A (n=1), KCNA1 (n=1), KCNA2 (n=4), KCNB1 (n=6), KCNC1 (n=1), and KCNMA1 (n=1). NGS-based genetic testing identified 13 missense mutations (87%), 1 splice-site variant (7%), and 1 copy-number variant (7%). Developmental and epileptic encephalopathy was diagnosed in nine (60%) patients. Seizure freedom was eventually achieved in eight (53%) patients, whereas seizures persisted in seven (47%) patients. @*Conclusions@#Our findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.
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Objective@#The 2020 Cardiopulmonary Resuscitation (CPR) guidelines recommend the use of feedback devices during CPR training and do not limit their use in actual CPR. Although there have been various studies on metronome-assisted CPR that use a metronome as a feedback device, there are no research results to determine a specific metronome setting rate. We analyzed the quality of CPR and the effectiveness of the metronome feedback according to the metronome setting rate within the recommended chest compression rate range. @*Methods@#Fifty healthcare providers who had received CPR training or had performed CPR in the previous 2 years participated, and all of them performed CPR at three rates (100/min, 110/min, and 120/min). The CPR was performed for 2 minutes with only chest compressions. The smartphone metronome (Metronome version 13.0 Android, KHTSXR, Seoul, Korea) application was used for the rate setting, and Resusci Anne QCPR Mk II (Laerdal Medical, Stavanger, Norway) was used to measure the CPR quality. The difference in the CPR quality according to the setting rate was analyzed. @*Results@#There was no significant difference in the “average compression depth (mm),” “adequate compression depth ratio (%),” and “adequate release ratio (%)” at the three set rates. The “adequate compression rate ratio (%)” was 98.48±5.27% at 110/min, which was higher than that at 120/min or 100/min, and this was a statistically significant difference (P=0.000). There was no significant difference in the “adequate compression site ratio (%).” @*Conclusion@#When performing metronome-assisted CPR, setting the rate to 110/min can more appropriately maintain the recommended chest compression rate range and can result in high-quality CPR.
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Objective To investigate the effects of Weidiao-3(WD-3)Mixture on the clinical efficacy of immunotherapy for advanced gastric cancer and the intestinal flora.Methods Fifty-one patients with advanced gastric cancer treated in Wuxi Traditional Chinese Medicine Hospital from January 2020 to December 2021 were randomized into a WD-3 group(immunotherapy + WD-3 Mixture,one dose per day)(n=25)and a gastric cancer(GC) group(only immunotherapy)(n=26)according to the admission time.Ten healthy volunteers were included as the healthy control group.The Karnofsky score and the Quality of Life Questionnare-Core score were evaluated before and after treatment,and the clinical efficacy was compared after treatment.After treatment,the stool samples were collected for 16SrRNA gene high-throughput sequencing and targeted metabolomics.The α and β diversity and structure of the intestinal flora and the content of short-chain fatty acids were compared between groups.Results The quality of life in both groups improved after treatment and was better in the WD-3 group than in the GC group(P=0.035).The dry mouth(P=0.038)and altered taste(P=0.008)were mitigated in the WD-3 group after treatment,and the reflux(P=0.001)and dry mouth(P=0.022)were mitigated in the GC group after treatment.After treatment,the WD-3 group outperformed the GC group in terms of dysphagia(P=0.047)and dry mouth(P=0.045).The WD-3 group was superior to the GC group in terms of objective remission rate and disease control rate,with prolonged median progression-free survival and median overall survival(P=0.039,P=0.043).The α and β diversity indexes of the intestinal flora showed no significant differences between WD-3 and GC groups(all P>0.05).At the phylum level,WD-3 and GC groups had lower relative abundance of Firmicutes(P=0.038,P=0.042)and higher relative abundance of Proteobacteria(P=0.016,P=0.015)than the healthy control group.The relative abundance of Actinomycetes in the GC group was lower than that in the healthy control group(P=0.035)and the WD-3 group(P=0.046).At the genus level,the GC group had lower relative abundance of Bifidobacteria and Coprococcus than the healthy control group and the WD-3 group(all P<0.001).LEfSe revealed the differences in the relative abundance of 6 intestinal bacterial taxa between the WD-3 group and the GC group.At the genus level,Saccharopolyspora had higher relative abundance in the WD-3 group than in the healthy control group and only existed in the WD-3 group.The content of isobutyric acid and isovaleric acid in the WD-3 group was higher than that in the healthy control group(P=0.037,P=0.004).Conclusion WD-3 Mixture may increase the relative abundance of Bifidobacteria and Coprococcus and the content of isobutyric acid and isovaleric acid to alter the intestinal microecology,thereby improving the efficacy of immunotherapy for gastric cancer.
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Humans , Isobutyrates , Gastrointestinal Microbiome , Quality of Life , Stomach Neoplasms/therapy , Immunotherapy , Treatment OutcomeABSTRACT
Purpose@#Most aviation accidents are caused by human factors, and in recent years in Korea, human factors have been identified as the cause of 70% of aviation accidents.Human factors that influence pilots in the aviation field are closely linked to judgment ability and are crucial factors directly impacting flight proficiency. @*Methods@#To explore the human factors that may affect student pilots during flight training, a survey was conducted among flight instructors holding pilot certificates. @*Results@#The results aim not only to identify the human factors that can influence flight performance during training but also to establish a direction for safety by addressing the human factors related to student pilots, with the goal of maintaining safety. @*Conclusion@#Understanding the human factors that affect student pilots, who will be responsible for transporting hundreds of passengers in the future, is essential for cultivating safety knowledge and risk management skills, making it a highly important matter for accident prevention.
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Background/Aims@#Tegoprazan, a novel potassium-competitive acid blocker, has shown rapid action and gastric acid inhibition. In this study, we evaluated the efficacy of a tegoprazan-based, nonbismuth-containing quadruple (concomitant) therapy for the primary eradication of Helicobacter pylori. @*Methods@#We conducted a prospective, single-arm, single-center, primitive study to verify the efficacy of a 10-day tegoprazan- based (50-mg dose) concomitant therapy, including amoxicillin (1,000-mg dose), clarithromycin (CLA; 500-mg dose), and metronidazole (MET; 500-mg dose) twice daily as a first-line treatment for H. pylori eradication. @*Results@#We tested consecutive cultures for antibiotic susceptibility and minimum inhibitory concentrations. We enrolled 84 participants; 79 (94.0%) completed first-line therapy. The overall intention-to-treat and per-protocol eradication rates were 90.5% (95% confidence interval [CI], 82.1−95.8) and 96.2% (95% CI, 83.4–97.6), respectively. Of the 73 participants evaluated for antibiotic resistance, 19 (26.0%), 32 (42.5%), and 8 (11.0%) exhibited CLA, MET, and CLA and MET dual resistance, respectively. Of these, 39 participants (66.1%) exhibited successful eradication after the therapeutic regimen despite antibiotic resistance. @*Conclusions@#The 10-day tegoprazan-based concomitant therapy may be an effective first-line treatment for eradicating H. pylori.
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Hip fractures are among the most common fractures in the elderly, presenting to be a leading cause of disability and mortality. Surgical treatment is currently the main treatment method for hip fractures. The incidence of perioperative malnutrition is increased after hip fractures in the elderly due to the comorbidities, decreased basal metabolic rate, accelerated protein breakdown, weakened anabolism and surgical stress. However, malnutrition not only increases the incidence of postoperative complications, but also leads to increased mortality, indicating an important role of perioperative nursing management of nutrition for the elderly patients with hip fractures. At present, there still lacks scientific guidance and application standards on perioperative nursing management of nutrition for the elderly patients with hip fractures. Therefore, the Orthopedic Nursing Committee of Chinese Nursing Association and the Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures ( version 2023) according to evidence-based medical evidences and their clinical experiences. Fourteen recommendations were made from aspects of nutrition screening, nutrition assessment, nutrition diagnosis, nutrition intervention and nutrition monitoring to provide guidance for perioperative nursing management of nutrition in elderly patients with hip fractures.
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As a clinical compulsory course, dermatovenereology is characterized by various diseases, complex etiology, and distinct morphological characteristics, and its teaching during the probation period is faced with many challenges. Based on today′s rich educational resources on the internet, and combined with rich clinical resources in large hospitals, the traditional teacher-led lecturing during the probation period needs to be changed, and the adoption of inquiry-based defensive teaching mode has obvious advantages over the traditional teacher-led teaching mode. In the inquiry-based defensive teaching mode, clinical teachers design a series of clinical questions based on clinical topics, then introduce network teaching videos to students to change classroom teaching into students′ after-class learning, induce students to actively explore issues, encourage them to work together in groups to excavate clinical resources, make presentations and organize defense. This teaching mode turns the traditional teacher-led probationary class into a student-led and teacher-assisted speculative defense session, thereby improving learning efficiency and quality, and promoting the cultivation of students′ core literacy and comprehensive ability. Undergraduates are the main target group of this teaching mode, and this mode can also be adopted in the teaching of postgraduates and resident doctors in the standardized training program for the organization of teaching activities and optimization of assessment modes.
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Objective:To analyze the distribution of different SF3B1 genotypes in patients with myelodysplastic syndromes (MDS) and its prognostic value.Methods:Totally, 377MDS patients who were initially diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to January 2022 were included in the retrospective analysis.The patients were divided into three different groups according to mutation stcote of SF3B1, including 317 patients with SF3B1 wild type (SF3B1 WT) (214 males and 103 females, 63(49, 71) years old),39 patients with SF3B1 K700E mutation(SF3B1 K700E(17 males and 22 females, 65(52, 73)years old)) and 21 patients with SF3B1 non-K700E mutation(SF3B1 non-K700E)(13 males and 8 females, 67(63, 73) years old). MDS-related 20 gene mutations were detected using targeted sequencing technology; Survival curves were constructed by the Kaplan-Meier method; Cox proportional hazards model was established to evaluate different factors at diagnosis on survival by univariate and multivariate analyses.. Results:Compared with SF3B1 non-K700E patients, SF3B1 K700E patients had a higher median absolute neutrophil count ( P=0.002) and were likely to be in the low/int-1 International Prognostic Scoring System (IPSS) categories ( P=0.023). A 20-gene targeted sequencing analysis showed that, compared with SF3B1 WT patients, SF3B1 K700E patients were associated with lower frequency of ASXL1 and U2AF1 mutations ( P=0.018 and P=0.003); while compared with SF3B1 non-K700E patients, the frequency of ASXL1 mutation was significantly lower in SF3B1 K700E cases ( P=0.029). Patients with SF3B1 K700E had better overall survival (OS) in comparison with SF3B1 WT and SF3B1 non-K700E in MDS patients ( P<0.001 and P=0.045, respectively). In comparison with SF3B1 WT patients, SF3B1 MUT patients had more favorable OS and progression-free survival (PFS) in MDS without excess blasts ( P<0.001 and P<0.001, respectively), but no significant difference was found in MDS with excess blasts ( P>0.05). Compared with SF3B1 WT patients, SF3B1 K700E patients had superior OS and PFS in the int-1 IPSS category ( P=0.010 and P=0.013, respectively). By multivariable analysis, the presence of SF3B1 K700Ewas an independent predictor of superior OS ( HR=0.461,95% CI 0.262-0.811, P=0.007). Conclusion:SF3B1 K700E and SF3B1 non-K700E patients had significantly improved OS in comparison with SF3B1 WT MDS patients. Furthermore, SF3B1 K700E patients were associated with a better OS compared with SF3B1 non-K700E MDS patients. SF3B1 mutation could not overcome the poor prognostic effect of excess blasts, which highlights the importance of the SF3B1 mutation subtype in risk assessment of MDS without excess blasts.
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Background@#and Purpose Orthostatic hypotension (OH) is common in patients with Parkinson’s disease (PD). Early recognition OH is required with sensitive assessments. The purpose of this study was to determine whether blood pressure (BP) changes during exercise can predict the occurrence of OH in PD. @*Methods@#This prospective cohort study included 80 consecutive patients with PD. All patients agreed to participate in a baseline evaluation and cardiopulmonary exercise test (CPET).According to the initial active standing test (AST), those without OH (PD-nonOH) at baseline had their AST results followed up for 6 months. The main outcome was defined as whether patients without OH at baseline would develop OH after 6 months. Logistic regression analysis was applied to identify the relevant variables. A nomogram was constructed based on clinical features and identified variables. The concordance index (C-index) and area under the receiver operating characteristic curve (AUC) were used to evaluate the accuracy and predictive ability of the nomogram, respectively. @*Results@#CPET results indicated that peak load, peak heart rate, heart rate recovery at 1 min, and systolic BP change (ΔSBP) were lower in those with OH than in the PD-nonOH group (p<0.05) at baseline. Logistic regression analysis indicated that peak load and ΔSBP during CPET had significant effects on OH (p<0.05). Age, sex, peak load, and ΔSBP were used to construct the nomogram model (C-index=0.761). The prediction model had an AUC of 0.782 (95% confidence interval=0.649–0.889) and a specificity and sensitivity of 70.0% and 81.8%, respectively. @*Conclusions@#This study has identified predictive factors for OH development in patients with PD. CPET could be used as a complementary examination to identify patients at a high risk of OH.
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Objective: To analyze the levels and distribution characteristics of blood cadmium and urinary cadmium in American adults, to analyze the relationship between blood cadmium and urinary cadmium and pulmonary function dose response, and to explore the effect of this index on the risk of chronic obstructive pulmonary disease. Methods: In March 2022, 3785 patients from 2007 to 2012 in NHANES database were selected as the subjects. Collect demography data such as gender and age, and test data such as lung function, blood cadmium concentration and Urine cadimium concentration. The relationship between blood and urine cadmium levels and lung function and pulmonary function and chronic obstructive pulmonary diease (COPD) was analyzed by Mann-Whitney U test or Kruskal-Wallis H test, multivariate linear regression and restricted cubic spline method. Results: The geometric mean of blood cadmium and urine cadmium in American adults was 0.37 g/L and 0.28 g/L, FEV(1) and FEV(1)/FVC among different cadmium exposure groups was statistically significant, and there was a negative linear dose-response relationship between serum Cd and urine Cd concentrations and FEV(1)/FVC levels (P(overall)<0.001, P(non-linear)=0.152; P(overall)<0.001, P(non-linear)=0.926). Compared with the lowest quartile concentration (Q1), the highest quartile blood cadmium concentration (Q4) (OR=1.934, P(trend)=0.000) and urinary cadmium concentration (OR=1.683, P(trend)=0.000) may increased the risk of chronic obstructive pulmonary disease. Conclusion: There is a negative correlation between blood cadmium, urinary cadmium levels and lung function in American adults, and cadmium may increase the risk of chronic obstructive pulmonary disease.
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Adult , Humans , Cadmium , Nutrition Surveys , Lung , Pulmonary Disease, Chronic Obstructive , Respiratory Function TestsABSTRACT
Esophageal cancer is a malignant tumor with a high incidence in China. At pesent, advanced esophageal cancer patients are still frequently encountered. The primary treatment for resectable advanced esophageal cancer is surgery-based multimodality therapy, including preoperative neoadjuvant therapy, such as chemotherapy, chemoradiotherapy or chemotherapy plus immunotherapy, followed by radical esophagectomy with thoraco-abdominal two-field or cervico-thoraco-abdominal three-field lymphadenectomy via minimally invasive approach or thoracotomy. In addition, adjuvant chemotherapy, radiotherapy, or chemoradiotherapy, or immunotherapy may also be administered if suggested by postoperative pathological results. Although the treatment outcome of esophageal cancer has improved significantly in China, many clinical issues remain controversial. In this article, we summarize the current hotspots and important issues of esophageal cancer in China, including prevention and early diagnosis, treatment selection for early esophageal cancer, surgical approach selection, lymphadenectomy method, preoperative neoadjuvant therapy, postoperative adjuvant therapy, and nutritional support treatment.
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Humans , Esophageal Neoplasms/surgery , Combined Modality Therapy , Neoadjuvant Therapy/methods , Chemoradiotherapy , Chemotherapy, Adjuvant , Esophagectomy/methodsABSTRACT
OBJECTIVE To analyze the implementation of insulin centralized volume-based procurement policy (hereinafter referred to as “centralized procurement”) in our hospital and its effect on the use of insulin products in clinical. METHODS The manufacturer, specifications, usage, sales amount and agreed purchase volume of insulin products in our hospital before (July 4, 2021 to January 3, 2022) and after (July 4, 2022 to January 3, 2023) the centralized procurement were collected. The defined daily dose (DDD) method was used to calculate defined daily doses (DDDs), defined daily cost (DDC), the progress of procurement completion and actual cost saving. RESULTS After the centralized procurement, the number of insulin products had increased from 20 to 29 in our hospital; except for the Insulin degludec/aspart injection in our hospital’s original insulin catalog that had not been centrally purchased, all other existing varieties had been included in centralized procurement catalog. The use of Insulin aspart 30 injection produced by Novo Nordisk (China) Pharmaceutical Co., Ltd. always ranked the first place in the list of usage and DDDs before and after the centralized procurement. The sales amount of Insulin glargine injection produced by Ganli Pharmaceutical Co., Ltd. and Tonghua Dongbao Pharmaceutical Co., Ltd. increased significantly due to the significant increase in usage. The centralized procurement of Degu insulin injection from Novo Nordisk (China) Pharmaceutical Co., Ltd. had achieved a relatively high completion rate in our hospital’s original insulin catalog, while the completion rate for new varieties was low. After the centralized procurement, our hospital actually saved a total of 1 388 582.66 yuan in expenses. CONCLUSIONS After the centralized procurement, the selection and usage of insulin varieties in our hospital are reasonable, which saves patients’ insulin treatment costs, and reduces economic pressure on patients and society.
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Purpose@#To analyze the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) type I with chronic respiratory failure. @*Materials and Methods@#We retrospectively reviewed seven patients diagnosed with SMA type I and chronic respiratory failure who were on permanent ventilation and treated with nusinersen at Gangnam Severance Hospital between January 2018 and July 2023. Patient demographics and clinical characteristics were recorded, and treatment progress was evaluated according to Hammersmith Infant Neurological Examination (HINE-2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores. @*Results@#Patients initially developed hypotonia at a mean age of 3.7 months. Mean age at start of nusinersen was 7.3 years; the mean duration of follow-up after starting nusinersen was 46.2 months. At 6-, 18-, 38-, 58-, and 74-month follow-up, the mean changes in CHOP-INTEND scores were 1.0, 2.9, 1.8, 1.5, and 1.5, respectively, and the proportions of patients who showed disease amelioration were 28.6%, 71.4%, 75.0%, 100%, and 100%, respectively. @*Conclusion@#Nusinersen is safe and effective in patients with SMA type I, even those with chronic respiratory failure and those on permanent ventilation. No significant adverse effects of nusinersen were observed.
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Acute ascending hemorrhagic longitudinally extensive transverse myelitis is a rare inflammatory demyelinating disorder, which invades several vertebral segments and progresses rapidly and manifests severe symptoms. We present a case of acute necrotizing myelitis associated with COVID-19 infection. A 10-year-old female, with no previous medical history and no prior administration of COVID-19 vaccination, contracted COVID-19 in early April 2022. Two weeks later, she suffered from severe posterior neck pain and also presented with motor weakness and numbness in both lower extremities, making it difficult to walk independently and spontaneously void urine. Initial spinal cord MR showed longitudinally segmental extensive T2 hyperintensities. Cerebrospinal fluid (CSF) analysis revealed elevated red blood cell, normal white blood cell, and elevated protein levels and absence of oligoclonal bands. CSF culture and viral polymerase chain reaction were negative. Autoimmune work-up was negative. She was started on intravenous methylprednisolone 1g/day for 5 days and immunoglobulin (Ig) 2 g/kg for 5 days. She was also treated with six courses of therapeutic plasma exchange. Nevertheless, her pain and motor weakness persisted. She eventually developed respiratory failure. Follow-up MR presented a newly noted small hemorrhagic component. She was consequently treated with two additional courses of methylprednisolone and Ig. At 6-months follow-up, neurological examination showed improvement with normal sensory function and motor grade IV function in both upper extremities. We present the case of acute necrotizing myelitis associated with COVID-19 infection. Multiple courses of methylprednisolone and Ig showed mild improvement in motor and sensory function. However, poor prognosis was unavoidable due to rapid progression of the disease.
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Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BβAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BβSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BβAla98Asp and p.BβSer473* were pathogenic. Protein models demonstrated that the p.BβAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BβSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BβAla98Asp heterozygous missense mutation and the p.BβSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.
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Humans , Afibrinogenemia/genetics , Codon, Nonsense , Pedigree , Phenotype , Fibrinogen/genetics , GenotypeABSTRACT
The Seoul Neuropsychological Screening Battery (SNSB) is known as a representative comprehensive neuropsychological evaluation tool in Korea since its first standardization in 2003. It was the main neuropsychological evaluation tool in the Clinical Research Center for Dementia of South Korea, a large-scale multi-center cohort study in Korea that was started in 2005. Since then, it has been widely used by dementia clinicians, and further solidified its status as a representative dementia evaluation tool in Korea. Many research results related to the SNSB have been used as a basis for the diagnosis and evaluation of patients in various clinical settings, especially, in many areas of cognitive assessment, including dementia evaluation. The SNSB version that was updated in 2012 provides psychometrically improved norms and indicators through a model-based standardization procedure based on a theoretical probability distribution in the norm’s development. By providing a score for each cognitive domain, it is easier to compare cognitive abilities between domains and to identify changes in cognitive domain functions over time. Through the development of the SNSBCore, a short form composed of core tests, which also give a composite score was provided. The SNSB is a useful test battery that provides key information on the evaluation of early cognitive decline, analysis of cognitive decline patterns, judging the severity of dementia, and differential diagnosis of dementia. This review will provide a broad understanding of the SNSB by describing the test composition, contents of individual subtests, characteristics of standardization, analysis of the changed standard score, and related studies.
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Alzheimer’s disease (AD), one of the most representative neurodegenerative diseases, has diverse neurobiological and pathophysiological mechanisms. Treatment strategies targeting a single mechanism have repeated faced failures because the mechanism of neuronal cell death is very complex that is not fully understood yet. Since complex mechanisms exist to explain AD, a variety of diagnostic biomarkers for diagnosing AD are required.Moreover, standardized evaluations for comprehensive diagnosis using neuropsychological, imaging, and laboratory tools are needed. In this review, we summarize the latest clinical, neuropsychological, imaging, and laboratory evaluations to diagnose patients with AD based on our own experience in conducting a prospective study.