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This study primarily focused on the regional disparities in both water quality criteria and ecological risks attributed to cadmium presence within the surface waters of the Yangtze River Basin. In the initial phase, the long-term water quality criteria for cadmium were recalibrated in accordance with the guidelines outlined in China's "Water Quality Criteria for Freshwater Aquatic Organisms-Cadmium," accounting for the prevalent hardness distribution within the Yangtze River Basin's surface water. Subsequently, a more refined revision was undertaken considering the specific characteristics of the species residing within the Yangtze River Basin. This undertaking led to a comprehensive interpretation of the regional variations in both the distribution of long-term water quality criteria values and the risk quotient distribution of cadmium throughout the Yangtze River Basin. The incorporation of hardness and species-specific attributes resulted in a revised range of long-term water quality criteria for cadmium across different urban locales within the Yangtze River Basin. Notably, the recalibrated values ranged from 0.08 µg·L-1 as the lowest threshold to 0.75 µg·L-1 as the upper limit, signifying a tenfold differentiation. Correspondingly, the urban average annual risk quotient associated with cadmium exposure demonstrated a variation from 0.035 to 1.12, marking a significant 32-fold discrepancy between the lowest and highest values. It is essential to highlight that regions of paramount importance, such as the confluence area connecting the upper and middle stretches of the Yangtze River Basin and the intricate Dongting Lake system, exhibited noteworthy ecological risks attributed to cadmium presence. Consequently, further in-depth investigations into these critical regions are imperative for a comprehensive understanding of the associated risks.
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BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is a chronic liver disease associated with metabolic syndrome. It is the most common cause of cryptogenic cirrhosis. The disease is also involved in the occurrence and development of type 2 diabetes and atherosclerosis and can directly affect the outcome of patients with coronary heart disease. Therefore, the focus of treatment of nonalcoholic fatty liver disease has also begun to focus on the treatment of risk factors for atherosclerotic heart disease. In this study, we investigated the difference between patients with coronary artery stenosis combined with NAFLD and those without NAFLD and evaluated the predictive factors and value of functional coronary artery ischemia in patients with NAFLD. HYPOTHESIS: Many clinical factors (such as age, BMI, hyperglycemia) and imaging parameters (such as CACS grade) in the NAFLD group were different from those in the non-NAFLD group. The predictive model combined with multiple influencing factors has a good value in predicting coronary artery ischemia in patients with NAFLD. METHODS: We collected the clinical and imaging data of patients who underwent coronary computed tomography angiography and coronary artery calcification score (CACS) scans between January and June 2023. A total of 392 patients were included and divided into the NAFLD group and the non-NAFLD group. Based on CT fractional flow reserve (CT-FFR), patients with NAFLD were divided into CT-FFR ≤ 0.08 group and CT-FFR > 0.08 group. RESULTS: Significant differences were observed between the non-NAFLD and NAFLD groups in terms of age, body mass index, hyperglycemia, hyperlipidemia, triglyceride, high-density lipoprotein, coronary artery disease-reporting and data system (CAD-RADS) classification, CACS classification, number of diseased coronary arteries, and CT-FFR ≤ 0.80 ratio (p < .05). The CAD-RADS and CACS classifications can independently predict functional coronary artery ischemia in NAFLD patients. The combined use of CAD-RADS and CACS classifications resulted in an area under the curve of 0.819 (95% confidence interval: 0.761-0.876) for predicting coronary artery ischemia in NAFLD patients, which was higher than the individual classification methods (CAD-RADS: 0.762, CACS: 0.742) (p = .000). CONCLUSIONS: There are differences between patients with coronary artery stenosis and NAFLD and those without NAFLD. The CAD-RADS classification and CACS classification can economically and efficiently predict functional coronary artery ischemia in patients with NAFLD, which has crucial value in clinical diagnosis and treatment.
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Doença da Artéria Coronariana , Estenose Coronária , Diabetes Mellitus Tipo 2 , Reserva Fracionada de Fluxo Miocárdico , Hiperglicemia , Isquemia Miocárdica , Hepatopatia Gordurosa não Alcoólica , Humanos , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/diagnóstico por imagem , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Diabetes Mellitus Tipo 2/complicações , Angiografia Coronária/métodos , Prognóstico , Estudos Retrospectivos , Isquemia Miocárdica/complicações , Isquemia Miocárdica/diagnóstico , Estenose Coronária/diagnóstico , Estenose Coronária/diagnóstico por imagem , Angiografia por Tomografia Computadorizada/métodos , Isquemia , Hiperglicemia/complicações , Valor Preditivo dos TestesRESUMO
Objective: The objective of this study was to explore factors that impact functional coronary artery ischemia (FCAI) and develop a gender-specific prognostic model that could serve as a benchmark for predicting FCAI in clinical practice. Methods: A cumulative total of 330 patients were enrolled comprising 634 main and branch coronary, consisting of 179 men (359 coronary arteries) and 151 women (275 coronary arteries). Based on the computed tomography-fractional flow reserve (CT-FFR), the coronary arteries of male and female patients were classified into the non-ischemic group (CT-FFR ≥ 0.80) and the ischemic group (CT-FFR < 0.80). We screened for factors related to the CT-FFR values of the coronary arteries in male and female patients and developed corresponding gender-specific models. Results: In male patients, the correlation between FCAI and several indicators, including white blood cell (WBC) count, left anterior descending artery (LAD) lesions, pericoronary fat attenuation index (FAI), and the degree of coronary artery stenosis, was found to be statistically significant. A predictive model was developed using these factors, yielding an area under the curve (AUC) value of 0.812, with a P value of < 0.001 and a 95% confidence interval (CI) ranging from 0.767 to 0.857. This model demonstrated superior predictive capability compared to any individual indicators mentioned above. Significant correlations with FCAI were observed in female patients for hemoglobin (Hb), systolic blood pressure (SBP), FAI, and the degree of coronary artery stenosis. The predictive model, derived from these factors, exhibited robust performance with an area under the curve (AUC) value of 0.818, a P value of < 0.001, and a 95% confidence interval (CI) ranging from 0.764 to 0.872. Conclusion: Gender disparities exist in the factors affecting FCAI, underscoring the need for a gender-specific predictive model to enhance the precision of FCAI prediction.
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Objective: Early identifying arteriosclerosis in newly diagnosed type 2 diabetes (T2D) patients could contribute to choosing proper subjects for early prevention. Here, we aimed to investigate whether radiomic intermuscular adipose tissue (IMAT) analysis could be used as a novel marker to indicate arteriosclerosis in newly diagnosed T2D patients. Methods: A total of 549 patients with newly diagnosed T2D were included in this study. The clinical information of the patients was recorded and the carotid plaque burden was used to indicate arteriosclerosis. Three models were constructed to evaluate the risk of arteriosclerosis: a clinical model, a radiomics model (a model based on IMAT analysis proceeded on chest CT images), and a clinical-radiomics combined model (a model that integrated clinical-radiological features). The performance of the three models were compared using the area under the curve (AUC) and DeLong test. Nomograms were constructed to indicate arteriosclerosis presence and severity. Calibration curves and decision curves were plotted to evaluate the clinical benefit of using the optimal model. Results: The AUC for indicating arteriosclerosis of the clinical-radiomics combined model was higher than that of the clinical model [0.934 (0.909, 0.959) vs. 0.687 (0.634, 0.730), P < 0.001 in the training set, 0.933 (0.898, 0.969) vs. 0.721 (0.642, 0.799), P < 0.001 in the validation set]. Similar indicative efficacies were found between the clinical-radiomics combined model and radiomics model (P = 0.5694). The AUC for indicating the severity of arteriosclerosis of the combined clinical-radiomics model was higher than that of both the clinical model and radiomics model [0.824 (0.765, 0.882) vs. 0.755 (0.683, 0.826) and 0.734 (0.663, 0.805), P < 0.001 in the training set, 0.717 (0.604, 0.830) vs. 0.620 (0.490, 0.750) and 0.698 (0.582, 0.814), P < 0.001 in the validation set, respectively]. The decision curve showed that the clinical-radiomics combined model and radiomics model indicated a better performance than the clinical model in indicating arteriosclerosis. However, in indicating severe arteriosclerosis, the clinical-radiomics combined model had higher efficacy than the other two models. Conclusion: Radiomics IMAT analysis could be a novel marker for indicating arteriosclerosis in patients with newly diagnosed T2D. The constructed nomograms provide a quantitative and intuitive way to assess the risk of arteriosclerosis, which may help clinicians comprehensively analyse radiomics characteristics and clinical risk factors more confidently.
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Arteriosclerose , Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico por imagem , Diabetes Mellitus Tipo 2/epidemiologia , Nomogramas , Obesidade , AdiposidadeRESUMO
AIM: The aim of our systematic review and meta-analysis was to assess the risk of postpolypectomy bleeding (PPB) in patients exposed to direct oral anticoagulants (DOACs). METHODS: A systematic search was conducted by searching the PubMed, Embase, and Cochrane Library databases using the following search terms: "(nonvitamin K antagonist oral anticoagulants or NOAC or apixaban or dabigatran or rivaroxaban or edoxaban or DOAC or direct oral anticoagulants) and polypectomy". Studies evaluating the association between DOACs and PPB were identified. RESULTS: The bibliographical search yielded 103 studies. Twelve studies involving 621,279 participants were ultimately included (11 cohort studies, of which 10 were retrospective, and a randomized controlled trial.). Pooled estimates revealed a higher risk of PPB among patients using DOACs than among those without anticoagulation (odds ratio [OR]: 6.170, 95% confidence interval [CI]: 3.079 to 12.363). The same result occurred when DOACs were stopped 24 hours before polypectomy (OR: 8.66, 95% CI: 4.588 to 16.348). No significant difference was noted between overall DOACs and warfarin (OR 0.826, 95% CI 0.583 to 1.172), while for subgroups, dabigatran showed a lower PPB rate than warfarin (OR: 0.582, 95% CI: 0.340 to 0.994). CONCLUSIONS: DOACs can significantly raise the risk of PPB, even with 24-hour withdrawal before polypectomy. In addition, a lower risk of PPB was detected for dabigatran than for warfarin.
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Fibrilação Atrial , Varfarina , Humanos , Varfarina/efeitos adversos , Anticoagulantes/efeitos adversos , Dabigatrana/efeitos adversos , Estudos Retrospectivos , Fibrilação Atrial/tratamento farmacológico , Hemorragia/induzido quimicamente , Administração Oral , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
BACKGROUND: Endometriosis affects approximately 10% of reproductive-age women, however, endometriosis associated malignant transformation is rare and is often report as a rare case. CASE SUMMARY: Herein, we report of a 49-year-old female patient who suffered from severe left lower abdominal pain and imaging examination revealed an irregular mass in the left iliac fossa. Histopathological examination revealed main undifferentiated adenocarcinoma with a few typical endometrial epithelial and stromal tissues in the adjacent area. Combined with the immunohistochemical staining and the negative intra- or postoperative results from exploratory laparotomy, gastroscopy, enteroscopy and positron emission tomography, the tumor was considered to be derived from endometriosis. The patient underwent hysterectomy, bilateral salpingectomy, bilateral ovariectomy, and multipoint biopsy of the pelvic peritoneum. Subsequent radiotherapy and chemotherapy were performed. The patient recovered well post-operation and there was no evidence of recurrence after 10 mo of follow-up via computed tomography and magnetic resonance imaging. CONCLUSION: This case highlights a rare presentation of mass-like extragonadal endometriosis associated malignant transformation in the pelvis. Endometriosis associated malignant transformation is rare and difficult to diagnose in clinical settings, with diagnoses depending on pathological results and the exclusion of metastasis from other organs. Fortunately, patients are often diagnosed at younger ages, as well as at early stages; thus they generally have relatively favorable prognoses.
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Here, we investigated the effects of straw returning combined with biochar application on summer maize yield and soil nitrous oxide (N2O) emissions, based on a field location trial in the Guanzhong Plain from 2019 to 2020. The soil N2O emission rates were monitored using the static chamber-chromatography method. A comprehensive analysis of summer maize yields, soil N2O emissions, and soil labile nitrogen components was conducted to clarify the effects of straw returning combined with biochar application on improving soil fertility, increasing summer maize yield, and reducing greenhouse gas emissions. The three treatments were no straw returning (S0), straw returning (S), and straw returning combined with biochar application (SB). The results showed that the peak of N2O emissions from each treatment occurred 10 d after the straw return, and the rate of soil N2O emissions remained at a low level after 30 d of straw return. The rate of soil N2O emissions showed highly significant positive correlations (P<0.05) with ammonium nitrogen (NH4+-N), inorganic nitrogen (SIN), microbial nitrogen (MBN), and dissolved organic nitrogen (DON) contents. S significantly increased summer maize yield, cumulative N2O emissions, yield-scaled N2O intensity, and total nitrogen (TN) content by 7.4%-13%, 65.8%-132.2%, 54.6%-103%, and 27.8%-33%, respectively, compared to those in S0. Although the trend for SB to increase summer maize yield (2.5%-3.3%) compared to that in S was not significant (P>0.05), SB significantly reduced cumulative N2O emissions and yield-scaled N2O intensity by 24.0%-27.3% and 26.4%-29.2%, respectively, compared to that in S. SB significantly reduced the rate of soil N2O emissions by 45.1%-69.6% at the peak of N2O emissions compared to that in S. Biochar application mitigated soil N2O emissions induced by straw return and had a peak-shaving effect. SB significantly increased soil total N by 9.1%-12.2% compared to that in S. Combining summer maize yield, soil N2O emissions, and TN content, SB not only improved soil fertility and summer maize yield but also reduced yield-scaled N2O intensity, making it a suitable management practice that can be replicated to balance crop yield and environmental friendliness.
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Solo , Zea mays , Agricultura/métodos , Carvão Vegetal , China , Fertilizantes/análise , Nitrogênio/análise , Óxido Nitroso/análise , Solo/química , TriticumRESUMO
Acute pancreatitis (AP) causes intestinal barrier damage, resulting in systemic inflammatory response syndrome (SIRS) or multiple organ dysfunction syndrome (MODS), which are important factors affecting AP severity and mortality. Here, we studied the mechanism of miR-122 in regulating intestinal barrier function in AP. AP rat model was constructed via intraperitoneal injection of ketamine, and primary intestinal epithelial cells were isolated from rats for in vitro studies. HE staining was used to assess pathological alterations of pancreas and intestines tissues. Inflammatory factors were detected by ELISA assay. qRT-PCR and WB were used to detect the expressions of miR-122 and occluding, respectively. Then dual-luciferase reporter assay, intestinal permeability test, and cell permeability were performed in vivo and in vitro to probe the molecular mechanism of miR-122 in regulating intestinal barrier function in AP. The expression of miR-122 was upregulated in AP rats, while the expression of occludin was downregulated, and the intestinal permeability was increased in AP rats and primary intestinal epithelial cells isolated from rats. Inhibition of miR-122 regulated intestinal barrier function through mediating occludin expression. miR-122 regulated intestinal barrier function to affect AP through mediating occludin expression in vivo. These results provided evidence that miR-122 overexpression impaired intestinal barrier function via regulation of occludin expression, thus promoting AP progression.
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MicroRNAs , Pancreatite , Doença Aguda , Animais , MicroRNAs/genética , Ocludina/genética , Pancreatite/genética , Permeabilidade , RatosRESUMO
OBJECTIVE: To compare the femoral and tibial tunnel positions of anterior cruciate ligament reconstruction using the modified transtibial (MTT) technique and anteromedial (AM) portal technique. METHODS: Between January 2017 and September 2020, 78 patients with anterior cruciate ligament rupture underwent single-bundle reconstruction with the modified transtibial technique in 39 cases (group MTT) and through anteromedial approach in 39 cases (group AM). There were 25 males and 14 females in group MTT, with an average age of (37.0±2.3) years old; 27 males and 12 females in group AM, with an average age of (37.5±2.2) years old. CT scan of the affected knee was conducted one week after the surgery to measure and compare the femoral tunnels positioning (Fx, Fy), tibial tunnels positioning in the frontal plane(Tx1), tibial tunnels positioning in the sagittal plane (Ty1), and tibial tunnels positioning in the axial plane (Tx2, Ty2) in patients undergoing anterior cruciate ligament reconstruction through Mimics software. RESULTS: Three-dimensional CT reconstruction after the surgery showed that the average Fx and Fy were(25.2±2.1)% and (34.9±3.0)% respectively and the Tx1 and Ty1 were (45.5±3.3)% and (44.7± 3.0)% respectively, while the Tx2 and Ty2 were (47.0±3.0)% and (39.9±4.2)% respectively in group MTT. In group AM, the average Fx and Fy were (26.0±2.0)% and (36.1±3.9)% respectively and the Tx1 and Ty1 were (46.5±3.1)% and (45.6± 3.1)% respectively, while the Tx2 and Ty2 were (47.4±2.5)% and (39.6±3.9)% respectively. There were no statistically significant differences in the femoral and tibial tunnels between the two groups (P>0.05). Patients in both two groups obtained anatomic anterior cruciate ligament reconstruction. CONCLUSION: Both the MTT and AM technique can achieve good anatomical positioning of the femoral and tibial tunnels, without significant differences in the positioning of the bone tunnels.
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Lesões do Ligamento Cruzado Anterior , Reconstrução do Ligamento Cruzado Anterior , Adulto , Ligamento Cruzado Anterior/diagnóstico por imagem , Ligamento Cruzado Anterior/cirurgia , Lesões do Ligamento Cruzado Anterior/cirurgia , Feminino , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Masculino , Software , Tíbia/cirurgia , Tomografia Computadorizada por Raios XRESUMO
Remitting seronegative symmetrical synovitis with pitting edema(RS3PE),the inflammatory arthritis attacking mainly elderly males,is characterized by symmetrical synovitis with pitting edema of the dorsum of hands and feet and the absence of rheumatoid factor.RS3PE commonly accompanies malignant tumor,infections and other diseases.Here we report a case of RS3PE associated with lung malignancy and review other six cases to summarize the clinical features,treatment and prognosis.
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Neoplasias Pulmonares , Sinovite , Idoso , Edema/etiologia , Humanos , Neoplasias Pulmonares/complicações , Masculino , Síndrome , Sinovite/complicações , Sinovite/tratamento farmacológicoRESUMO
In order to explore the impacts of nitrogen fertilizer and straw returning methods on N2O emissions, a two-factor split-zone design was adopted for experimentation under the winter wheat-summer maize rotation model in the Guanzhong area of Shanxi, China. The main areas of interest were conventional nitrogen (G) and reduced nitrogen (70% G); the sub-areas were straw no return (N), straw return (S), and straw return + biochar (SB); we analyzed their impacts on N2O emissions and crop yield, and the relationships with related impact factors. The results showed that the N2O emissions peaks appeared in the wheat season and maize season treatments within 5-16 days after fertilization, and also appeared after rainfall. The N2O flux was significantly and positively correlated with soil temperature and NH4+-N content. Regardless of the wheat season, maize season, or annual total N2O emissions, the 70% GSB treatment was the lowest and the GS treatment was the highest. At the same level of nitrogen application, S treatment increased N2O emissions, SB treatment could reduce N2O emissions, both S and SB treatments could significantly increase crop yields, and SB production increased more; 70%G-level annual N2O emissions, when compared with the G level, had been reduced by 40% to 48%, while the yield has not decreased significantly. Through comprehensive consideration, a reduction of nitrogen by 30% was achieved through the combination of straw + biochar on the basis of conventional nitrogen application, while ensuring high crop yields and the best N2O emissions reduction.
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Fertilizantes , Solo , Agricultura , China , Nitrogênio , Óxido Nitroso/análise , Triticum , Zea maysRESUMO
BACKGROUND: Esophageal schwannomas are uncommon esophageal submucosal benign tumors and are usually treated with surgery. CASE SUMMARY: Here, we report three cases of middle/lower thoracic esophageal schwannoma treated successfully with endoscopic resection. These lesions were misdiagnosed as leiomyoma on preoperative imaging. During the endoscopic resection of such tumors, there is a risk of esophageal perforation due to their deep location. If possible, submucosal tunneling endoscopic resection should be used. CONCLUSION: For larger schwannomas, endoscopy combined with thoracoscopy can be considered for en bloc resection. We performed a mini literature review in order to present the current status of diagnosis and treatment for esophageal schwannoma.
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Protein phosphatase 1D (PPM1D), which functions as an oncogene, is a known target of the tumor suppressor p53 and is involved in p53-regulated genomic surveillance mechanisms. PPM1D dephosphorylates both p53 and its ubiquitin ligase mouse double minute 2 homolog, as well as the RNA-binding protein (RBM)38, which turns RBM38 from an inducer to inhibitor of TP53 translation. In addition, RBM38 induces PPM1D translation. Hence, the PPM1D-RBM38-p53 axis is important in maintaining genomic integrity and is often altered during tumorigenesis. TP53, which encodes p53, is deleted or mutated in >50% of cancer types, including lung cancer. Mutant p53 has been revealed to complex with hypoxia-inducible factor 1α (HIF1α) and upregulate transcription of pro-metastatic genes. However, the mechanism underlying the action of the PPM1D-RBM38-p53 axis in the context of mutant p53 under normoxic and hypoxic conditions is yet to be elucidated. In the present study, using non-small cell lung cancer (NSCLC) cell lines harboring wild-type (A549 cells) or hot-spot mutant (NCI-H1770 and R249WΔ-TP53-A549 cells) TP53, it was demonstrated that in cells harboring mutant p53, RBM38 was not the primary regulator of PPM1D translation under hypoxic conditions. Knockdown of RBM38 in TP53 mutant cells did not affect the PPM1D protein expression under hypoxic conditions. Instead, in NCI-H1770 cells maintained under normoxic conditions, PPM1D was revealed as a target of micro RNA (miR)-129-1-3p, a known tumor suppressor in lung cancer. Hypoxia resulted in the downregulation of miR-129-1-3p expression, and thus, in the downregulation of PPM1D messenger RNA (mRNA) translation. In NCI-H1770 cells grown under hypoxic conditions, the transient transfection of miR-129-1-3p mimic, and not control mimic, repressed the expression of a reporter containing wild-type, but not miR-129-1-3p binding mutant, of the PPM1D 3'-untranslated region (UTR). Analysis of NSCLC cell lines from the Broad Institute Cancer Cell Encyclopedia and patients with NSCLC from The Cancer Genome Atlas dataset revealed significant co-occurrence of PPM1D/RBM38 and PPM1D/HIF1A mutations. However, there was no significant difference in the overall survival of patients with NSCLC with or without genomic alterations in TP53, RBM38, PPM1D and HIF1A. In summary, the current study demonstrated hypoxia-dependent miR-129-1-3p-mediated regulation of PPM1D protein expression in NSCLC cell line harboring mutant TP53.
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Stiff limb syndrome (SLS) is a rare autoimmune-related central nervous system disorder, resulting in stiffness and spasms of limbs since onset with rare involvement of the truncal muscles. However, SLS patients will gain notable effects by appropriate therapy focusing on symptomatic treatment and immunotherapy. We reported on a 55-year-old female who showed typical painful spasms in both lower limbs and abduction of the right eyeball that partially responded to low-dose diazepam and had high-titer anti-glutamic acid decarboxylase (anti-GAD) antibody. Electromyography (EMG) only showed continuous motor unit activity (CMUA) in the anterior tibialis and right triceps. Eventually, our patient was diagnosed with SLS and treated with intravenous immunoglobulin (IVIG) and glucocorticoid combined simultaneously. She obtained notable effects. We also review and summarize the current literature on clinical characteristics, coexisting disease, treatment, and outcome of 40 patients with SLS. We hope that this report will provide a basis for further understanding of SLS and promote the formation of more advanced diagnosis and treatment processes.
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Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential tremor. Using a comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal GGC repeat expansion in the 5' region of the NOTCH2NLC gene that co-segregated with disease in 11 essential tremor families (5.58%) from our cohort. Clinically, probands that had an abnormal GGC repeat expansion were found to have more severe tremor phenotypes, lower activities of daily living ability. Obvious genetic anticipation was also detected in these 11 essential tremor-positive families. These results indicate that abnormal GGC repeat expansion in the 5' region of NOTCH2NLC gene is associated with essential tremor, and provide strong evidence that essential tremor is a family of diseases with high clinical and genetic heterogeneities.
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Povo Asiático/genética , Tremor Essencial/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Idoso , Feminino , Sequência Rica em GC , Ligação Genética , Humanos , Corpos de Inclusão Intranuclear/genética , Corpos de Inclusão Intranuclear/ultraestrutura , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Doenças Neurodegenerativas/genética , Linhagem , Reação em Cadeia da Polimerase , Pele/ultraestrutura , Sequenciamento do Exoma , Sequenciamento Completo do GenomaRESUMO
With the aim of studying the effects of different vegetation zones on soil aggregate stability and its stoichiometric characteristics, the soils under Robinia pseudoacacia plantations located within different vegetation zones on the Loess Plateau were selected as the research object. Indicators including the content, stoichiometry, and stability of different aggregate fractions were analyzed. The results showed that the content of >2 mm and 0.25-2 mm, the mean diameter (EMWD), and the geometric mean diameter (EGMD) of aggregate fractions were in the order of forest zone > forest-steppe zone > grassland zone. However, the stability proxies of aggregate fractions across the three vegetation zones indicated that the content and erodibility (K factor) of 0.053-0.25 mm exhibited an opposite trend. The overall trend of the soil organic carbon and total nitrogen of aggregate fractions among the three vegetation zones was that the forest zone significantly overtopped the forest-steppe zone and grassland zone, while the content of total phosphorus showed no significant differences among the three vegetation zones. Additionally, the content of soil organic carbon and total nitrogen of < 0.053 mm and 0.25-2 mm was the highest among the different fractions in the grassland zone, while that of 0.053-0.25 mm and 0.25-2 mm was the highest in the forest-steppe zone. In contrast, there were no significant differences in the content of organic carbon and total nitrogen in the forest zone among the different aggregate fractions. The total phosphorus content topped in < 0.053 mm fractions in the grassland zone and the forest-steppe zone, while that in the forest zone had no significant differences among the different aggregate fractions. Besides, the C:N ratios of < 0.053 mm and 0.053-0.25 mm in the steppe zone and the forest-steppe zone were higher than that in the forest zone, while that of 0.25-2 mm and >2 mm had insignificant differences among the three vegetation zones. The C:P and N:P ratios of fractions in the forest zone were significantly higher than that in the forest-steppe zone and steppe zone. Overall, the stability and stoichiometry of soil aggregate fractions exhibited relatively significant differences among the three vegetation zones. Additionally, the stability, soil organic carbon, and total nitrogen content of aggregate fractions in the forest zone were generally higher than those in the forest-steppe zone and grassland zone.