8,385 results on '"Clinical features"'
Search Results
2. Protracted febrile myalgia syndrome in children with familial Mediterranean fever – systematic review and a case report.
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Hospach, Toni, Blankenburg, Friederike, Heinkele, Anita, von Kalle, Thekla, Uziel, Yosef, Kallinich, Tillmann, and Rücklová, Kristina
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Introduction: Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. Objectives: 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. Methods: All articles in Pub Med generated using the keywords "protracted febrile myalgia" and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. Results: In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. Conclusion: The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia.
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Zhang, Jing-Ying, Chen, Chun-Rong, Qin, Jia-Yue, Shen, Di-Ying, Liu, Li-Xia, Song, Hua, Xia, Tian, Xu, Wei-Qun, Wang, Yan, Zhu, Feng, Fang, Mei-Xin, Shen, He-Ping, Liao, Chan, Dong, Ao, Cao, Shan-Bo, Tang, Yong-Min, and Xu, Xiao-Jun
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ACUTE myeloid leukemia ,CHILD patients ,NUCLEOTIDE sequencing ,HIERARCHICAL clustering (Cluster analysis) ,RNA sequencing - Abstract
Background: NUP98 rearrangements (NUP98-r) are rare but overrepresented mutations in pediatric acute myeloid leukemia (AML) patients. NUP98-r is often associated with chemotherapy resistance and a particularly poor prognosis. Therefore, characterizing pediatric AML with NUP98-r to identify aberrations is critically important. Methods: Here, we retrospectively analyzed the clinicopathological features, genomic and transcriptomic landscapes, treatments, and outcomes of pediatric patients with AML. Results: Nine patients with NUP98-r mutations were identified in our cohort of 142 patients. Ten mutated genes were detected in patients with NUP98-r. The frequency of FLT3-ITD mutations differed significantly between the groups harboring NUP98-r and those without NUP98-r (P = 0.035). Unsupervised hierarchical clustering via RNA sequencing data from 21 AML patients revealed that NUP98-r samples clustered together, strongly suggesting a distinct subtype. Compared with that in the non-NUP98-r fusion and no fusion groups, CMAHP expression was significantly upregulated in the NUP98-r samples (P < 0.001 and P = 0.001, respectively). Multivariate Cox regression analyses demonstrated that patients harboring NUP98-r (P < 0.001) and WT1 mutations (P = 0.030) had worse relapse-free survival, and patients harboring NUP98-r (P < 0.008) presented lower overall survival. Conclusions: These investigations contribute to the understanding of the molecular characteristics, risk stratification, and prognostic evaluation of pediatric AML patients. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Clinical features of ocular damage in systemic lupus erythematosus and risk factors for hydroxychloroquine-related complications.
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Cheng, Tiantian, Gu, Xingwang, Yang, Zuyi, Wang, Chuting, Chen, Youxin, and Zhao, Xinyu
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PHOSPHOLIPID antibodies , *OCULAR toxicology , *DRY eye syndromes , *VISION disorders , *DATABASES - Abstract
Ocular damage in systemic lupus erythematosus (SLE) may cause insidious visual impairment, but its clinical features and the risk of hydroxychloroquine (HCQ)-related complications are still controversial. We performed a meta-analysis to evaluate ocular damage in SLE, the correlation between eye and systemic involvement, and the ocular side effects of treatment. The database PubMed, Embase, and Ovid were used for literature from reception to July, 2023, and the calculation was carried out with R. About 48,693 patients from 66 studies were included. The results indicated that ocular damage in SLE was insidious, appearing in 28 % of patients with no complaints. The most common symptoms and manifestations were dry eye (30 %) and keratoconjunctivitis sicca (26 %). Retinopathy was detected in 10 % of patients and was related to antiphospholipid antibodies (25 % versus 8 %). The proportion of retinopathy also significantly increased in patients with lupus nephropathy or neuropsychiatric systemic lupus erythematosus (risk ratio of 2.29 and 1.95, respectively). HCQ was used in 82 % of patients, of which 4 % suffered from ocular toxicity. HCQ-related retinopathy was dose-dependent. Dosage below 5 mg/kg/d was relatively effective and safe for long-term use, while routine examination was recommended. • Ocular damage in SLE. • Retinopathy is related with APL, as well as renal and CNS involvement. • HCQ-related retinopathy in SLE is dose-dependent. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Clinical characteristics of and risk factors for poor outcomes in children with bacterial culture-negative septic arthritis of the hip.
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Feng, Wei, Yao, Ziming, Liu, Haonan, Zhu, Danjiang, Song, Baojian, and Wang, Qiang
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SYNOVIAL fluid , *LOGISTIC regression analysis , *BLOOD proteins , *C-reactive protein , *BACTERIAL cultures , *INFECTIOUS arthritis - Abstract
Septic arthritis of the hip is a serious infection in children. However, blood and joint fluid cultures are often negative, which makes the diagnosis and treatment challenging. We analyzed the clinical features of children with septic arthritis of the hip with negative bacterial cultures and identified the risk factors for poor outcomes. The clinical data of children with septic arthritis of the hip with negative bacterial cultures who were treated at our hospital from January 2010 to December 2020 were retrospectively analyzed. The clinical characteristics and outcomes of the culture-negative cohort were compared with those of children with positive bacterial cultures treated during the same period. Culture-negative patients were divided into a group with good outcomes and a group with poor outcomes. The differences between the two groups were compared. Thirty-nine children with culture-negative septic arthritis of the hip were compared with 37 children with culture-positive sepsis. Compared with the culture-positive group, the culture-negative group had a significantly younger mean age and a significantly lower mean serum C-reactive protein concentration. Logistic regression analysis of culture-negative patients with good versus poor outcomes revealed that the independent risk factors for poor outcomes were an increased serum C-reactive protein concentration and prolonged time from onset to surgery. The cut-off values for predicting a poor outcome in the culture-negative group were a time from onset to surgery of greater than 21 days and a C-reactive protein concentration of greater than 23 mg/L. Culture-negative septic arthritis of the hip has similar clinical features to culture-positive septic arthritis of the hip and can result in sequelae of varying severity. Therefore, active anti-infective and hip drainage therapy should be performed when children present with clinical symptoms, inflammatory marker concentrations, and imaging findings that are clinically diagnostic for septic arthritis of the hip. Level II, retrospective study. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Prevalence and clinical profile of patients with restless legs syndrome in Parkinson's disease: A meta-analysis.
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Maggi, Gianpaolo, Barone, Angelo, Mastromarino, Clara, Santangelo, Gabriella, and Vitale, Carmine
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RESTLESS legs syndrome , *IRON in the body , *PARKINSON'S disease , *SLEEP disorders , *IRON metabolism - Abstract
Restless legs syndrome (RLS) is a sensorimotor disorder of sleep/wake regulation characterized by an urge to move the legs accompanied by a wide range of sensory symptoms, mainly affecting the lower limbs. An increased incidence of RLS has been demonstrated in Parkinson's disease (PD) and has been associated with severe motor and non-motor manifestations. We aimed to provide a reliable estimate of RLS prevalence and the clinical features associated with its occurrence in PD (PD-RLS). We performed a systematic literature search up to January 2024 using PubMed, Scopus, and PsycINFO databases. Articles were included if they provided data on PD patients with or without RLS, and these proportions were used to estimate the prevalence of PD-RLS. Clinical profile associated with PD-RLS was explored by comparing the clinical characteristics of PD patients with and without RLS. Forty-six studies were included in the meta-analysis. Pooled RLS prevalence was 20 % of a total sample of 6990 PD patients and was associated with female sex, mixed motor phenotype, worse motor disturbances and functional disability, and a wide range of non-motor symptoms such as sleep disorders, cognitive and autonomic dysfunctions, and more severe neuropsychiatric manifestations. Sensitivity analyses indicated significant associations of PD-RLS with variables related to dopaminergic therapy. No association was found with serum ferritin, serum iron and hemoglobin levels. The prevalence of PD-RLS exceeds that reported in the general population, suggesting the existence of a relationship between the two disorders. Dopaminergic treatment seems to play an ambivalent role relieving, worsening or "mimicking" RLS manifestations. However, the clinical profile of PD-RLS patients, characterized by a greater severity of non-motor symptoms, also suggests that neurotransmitter systems other than the dopaminergic one are involved in PD-RLS etiology. • We aimed to provide prevalence and clinical aspects of RLS occurrence in PD. • Pooled RLS prevalence was 20 % of a total sample of 6990 PD patients. • PD-RLS occurrence was associated with worse motor and non-motor manifestations. • Dopamine plays an ambivalent role worsening, relieving or "mimicking" RLS manifestations. • Non-dopaminergic pathways might be involved in PD-RLS etiology. [ABSTRACT FROM AUTHOR]
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- 2024
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7. Merkel cell carcinoma.
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Thakker, Sach, Venna, Suraj, Belzberg, Micah, Jang, Sekwon, DeSimone, Jennifer, and Al-Mondhiry, Jafar
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- 2024
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8. Broadening the clinical spectrum of giant cell arteritis: from the classic cranial to the predominantly extracranial pattern of the disease.
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González-Gay, Miguel Ángel, Heras-Recuero, Elena, Blázquez-Sánchez, Teresa, Caraballo-Salazar, Claritza, Rengifo-García, Fernando, Castañeda, Santos, and Largo, Raquel
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POLYMYALGIA rheumatica ,POSITRON emission tomography ,TEMPORAL arteries ,SYMPTOMS ,CAROTID artery ,GIANT cell arteritis - Abstract
Giant cell arteritis (GCA) is a large vessel (LV) vasculitis that affects people aged 50 years and older. Classically, GCA was considered a disease that involved branches of the carotid artery. However, the advent of new imaging techniques has allowed us to reconsider the clinical spectrum of this vasculitis. This review describes clinical differences between patients with the cranial GCA and those with a predominantly extracranial LV-GCA disease pattern. It highlights differences in the frequency of positive temporal artery biopsy depending on the predominant disease pattern and emphasizes the relevance of imaging techniques to identify patients with LV-GCA without cranial ischemic manifestations. The review shows that so far there are no well-established differences in genetic predisposition to GCA regardless of the predominant phenotype. The large branches of the extracranial arteries are frequently affected in GCA. Imaging techniques are useful to identify the presence of 'silent' GCA in people presenting with polymyalgia rheumatica or with nonspecific manifestations. Whether these two different clinical presentations of GCA constitute a continuum in the clinical spectrum of the disease or whether they may be related but are definitely different conditions needs to be further investigated. [ABSTRACT FROM AUTHOR]
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- 2024
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9. Profile of immunological biomarkers in Behcet's syndrome: a large-scale single-center real-world study.
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Li, Jiachen, Sun, Feng, Li, Yingni, Zhao, Jing, Jia, Rulin, Wang, Hongyan, Xiang, Xiaohong, Sun, Xiaolin, Chen, Chengbin, Xu, Haixin, Li, Zhanguo, and Liu, Tian
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BEHCET'S disease , *PEARSON correlation (Statistics) , *TUMOR necrosis factors , *T cells , *AUTOANTIBODIES - Abstract
Behcet's syndrome (BS) is a vasculitis characterized by immune dysregulation. Biomarkers are valuable for assessing clinically atypical pathogenesis. We aimed to investigate the distribution of different biomarkers and their effects on the clinical features of patients with BS in a large-scale, real-world study. This is a retrospective, single-center study. In total, 502 patients diagnosed with BS were enrolled in this study. We analyzed the clinical features of this cohort and divided patients' symptoms into six categories, including mucocutaneous, articular, neurological, gastrointestinal, vascular, and ocular involvements. HLA-B51 cells, autoantibodies, and subsets of immune cells from the patients were tested. Pearson's correlation, Wilcoxon rank sum test and multivariate logistic regression were used for data analysis. Various autoantibodies were detected in the serum of 40.8% of patients with BS. The positivity rate of anti-endothelial cell antibodies (AECA) was the highest among autoantibodies and was found in 23.5% (118/502) of patients with BS. The positivity rate of HLA-B51 in patients with BS was 27.1%. Tumor necrosis factor (TNF)-α, IL-2, and IL-4 producing CD4+ T cells were positively correlated with the gastrointestinal BS. Increased IL-4+CD4+ T cell was a risk factor for gastrointestinal BS (P = 0.006, Overall rate [OR] = 2.491, 95% Confidence interval [CI]: [1.317, 5.100]). Various autoantibodies can be detected in patients with BS. HLA-B51 and AECA are the most common biomarkers. Increased IL-4+ CD4+ T cell was a risk factor for gastrointestinal involvement in BS. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Ultrasound scanning in diagnosing primary thyroid lymphoma.
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Xue, Xiaolei, Wu, Liping, Zhang, Jinqing, Sun, Wei, Jiang, Shiqin, Chu, Xiaoling, and Sun, Yingzi
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CORE needle biopsy , *OLDER patients , *SYMPTOMS , *THYROID gland , *PHYSICIANS - Abstract
This study aimed to summarize the clinical manifestations and ultrasound characteristics of primary thyroid lymphoma (PTL) and explore the key aspects in the process of diagnosing PTL.We conducted a retrospective analysis of the clinical and ultrasound features of 11 patients with PTL who were admitted to Shandong Provincial Third Hospital, China, between May 2009 and August 2023. The pathology was confirmed in all cases through an ultrasound-guided core needle biopsy or surgical resection.The mean age of the 11 patients was 64.45±9.85 years. In six patients, the main clinical manifestation was a palpable mass in the neck, five of whom had a significant increase in the size of the mass within 3 months to 2 years. Eleven patients had coexisting Hashimoto’s thyroiditis (HT). Three patients were diagnosed as having diffuse-type PTL, wherein the ultrasound showed enlargement of the affected thyroid gland with diffusely uneven hypoechoic parenchyma. In 7 patients with nodular type PTL and 1 case of mixed type PTL, the ultrasonographic features of the nodular lesions were of irregular morphology and yet had distinct borders, and only 1 case had gross calcification. There were 7 cases of hypoechoic lesions (7/11 cases, 63.6%), 9 cases where the lesions had linear echo chains (9/11 cases, 81.8%), and 10 cases (90.9%) where there was echogenic enhancement posterior to the lesion.In elderly patients with HT, the thyroid volume increases significantly in a short period of time and symptoms associated with compression in the neck region appear. The ultrasound characteristics were extremely hypoechoic lesions in the thyroid parenchyma, with more linear echo chains visible inside, accompanied by posterior echo enhancement. When encountering such presentations, physicians must consider the possibility of PTL. Performing a core needle biopsy in cases that raise suspicion can reduce the incidence of misdiagnosis. [ABSTRACT FROM AUTHOR]
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- 2024
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11. Deep learning-based multimodal fusion of the surface ECG and clinical features in prediction of atrial fibrillation recurrence following catheter ablation.
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Qiu, Yue, Guo, Hongcheng, Wang, Shixin, Yang, Shu, Peng, Xiafeng, Xiayao, Dongqin, Chen, Renjie, Yang, Jian, Liu, Jiaheng, Li, Mingfang, Li, Zhoujun, Chen, Hongwu, and Chen, Minglong
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RECEIVER operating characteristic curves , *DEEP learning , *TRANSFORMER models , *ATRIAL fibrillation , *PULMONARY veins - Abstract
Background: Despite improvement in treatment strategies for atrial fibrillation (AF), a significant proportion of patients still experience recurrence after ablation. This study aims to propose a novel algorithm based on Transformer using surface electrocardiogram (ECG) signals and clinical features can predict AF recurrence. Methods: Between October 2018 to December 2021, patients who underwent index radiofrequency ablation for AF with at least one standard 10-second surface ECG during sinus rhythm were enrolled. An end-to-end deep learning framework based on Transformer and a fusion module was used to predict AF recurrence using ECG and clinical features. Model performance was evaluated using areas under the receiver operating characteristic curve (AUROC), sensitivity, specificity, accuracy and F1-score. Results: A total of 920 patients (median age 61 [IQR 14] years, 66.3% male) were included. After a median follow-up of 24 months, 253 patients (27.5%) experienced AF recurrence. A single deep learning enabled ECG signals identified AF recurrence with an AUROC of 0.769, sensitivity of 75.5%, specificity of 61.1%, F1 score of 55.6% and overall accuracy of 65.2%. Combining ECG signals and clinical features increased the AUROC to 0.899, sensitivity to 81.1%, specificity to 81.7%, F1 score to 71.7%, and overall accuracy to 81.5%. Conclusions: The Transformer algorithm demonstrated excellent performance in predicting AF recurrence. Integrating ECG and clinical features enhanced the models' performance and may help identify patients at low risk for AF recurrence after index ablation. [ABSTRACT FROM AUTHOR]
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- 2024
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12. 急性乙二醇中毒患者临床特征及死亡危险因素分析.
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杨凯, 肖克来提·霍加合买提, 陆金帅, 李国旗, 李鑫鹏, and 彭鹏
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ETHYLENE glycol , *ACUTE kidney failure , *LOGISTIC regression analysis , *CONSCIOUSNESS disorders , *RECEIVER operating characteristic curves - Abstract
Objective To analyze the clinical characteristics and death -related risk factors of patients with acute ethylene glycol (EG) poisoning in order to guide clinical diagnosis and prognosis evaluation. Methods A retrospective analysis was done on the clinical data of 43 patients with acute EG poisoning admitted to the Emergency Department and ICU in 3 hospitals in Xinjiang from January 2010 to December 2022. The patients were divided into survival and death groups based on their in -hospital survival status. The differences in various indicators between the two groups were compared. Binary logistic regression analysis was used to determine independent risk factors affecting prognosis, and the receiver operating curve characteristic (ROC) curve was used to analyze the predictive ability of relevant indicators for the prognosis of acute EG poisoning patients. Results Among 43 patients, 31 were male (72.09% ), and 32 cases were accidental ingestion (74.42%). There were 9 cases of death (20.93%) and 41 cases (95.35%) of acute kidney injury. The patients had varying degrees of consciousness disorders [GCS score (9.767 ± 1.900) points]. The values of lactate, potassium ions, anion gap (AG), osmolar gap (OG), and blood creatinine were higher than the normal reference range. Results of the binary logistic regression analysis indicated that a higher AG was associated with an increased risk of mortality (OR = 1.424, P < 0.05); higher GCS scores were associated with a decreased risk of mortality (OR = 0.161, P < 0.05); and patients treated with ethanol had a reduced risk of mortality compared to those without ethanol treatment (OR = 0.003, P < 0.05). ROC analysis showed that the area under the curve (AUC) for the combination of AG and GCS scores was 0.918 (95% CI: 0.836 to 1), which was higher than the AUC for AG alone (0.886, 95% CI: 0.771 to 1) and the AUC of GCS score (0.842, 95% CI: 0.718 to 0.965). Conclusions Acute ethylene glycol (EG) poisoning was characterized by high AG metabolic acidosis with elevated OG or altered consciousness, often leading to acute kidney injury. High AG, low GCS scores, and a lack of ethanol treatment were independent risk factors for mortality. The prediction accuracy of the patient’s prognosis could be improved with the combination of AG and GCS scores. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Clinical Features and Risk Factors for Drug-Induced Liver Injury: A Retrospective Study From China.
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Ma, Xiaojuan, Chen, Zhuo, An, Jingzhi, and Zhang, Cuixin
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- 2024
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14. The Silent Syndrome of Long COVID and Gaps in Scientific Knowledge: A Narrative Review.
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da Silva, Rosilene, Vallinoto, Antonio Carlos Rosário, and dos Santos, Eduardo José Melo
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POST-acute COVID-19 syndrome , *SCIENTIFIC knowledge , *PUBLIC health , *PROGNOSIS , *SYMPTOMS - Abstract
COVID-19 is still a major public health concern, mainly due to the persistence of symptoms or the appearance of new symptoms. To date, more than 200 symptoms of long COVID (LC) have been described. The present review describes and maps its relevant clinical characteristics, pathophysiology, epidemiology, and genetic and nongenetic risk factors. Given the currently available evidence on LC, we demonstrate that there are still gaps and controversies in the diagnosis, pathophysiology, epidemiology, and detection of prognostic and predictive factors, as well as the role of the viral strain and vaccination. [ABSTRACT FROM AUTHOR]
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- 2024
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15. Gender differences in clinical and biochemical parameters among patients hospitalized for schizophrenia: towards precision medicine.
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Esposito, Cecilia Maria, De Cagna, Francesca, Caldiroli, Alice, Capuzzi, Enrico, Ceresa, Alessandro, Di Paolo, Martina, Auxilia, Anna Maria, Capellazzi, Martina, Tagliabue, Ilaria, Cirella, Luisa, Clerici, Massimo, Brondino, Natascia, Barkin, Jennifer L., Politi, Pierluigi, and Buoli, Massimiliano
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GENDER differences (Psychology) , *SCIENTIFIC literature , *INDIVIDUALIZED medicine , *PEOPLE with schizophrenia , *MENTAL illness - Abstract
Background: The scientific literature shows some gender differences in the clinical course of schizophrenia. The aim of this study is to identify gender differences in clinical and biochemical parameters in subjects affected by schizophrenia. This would allow for the implementation of individualized treatment strategies. Methods: We examined a large set of clinical and biochemical parameters. Data were obtained from clinical charts and blood analyses from a sample of 555 schizophrenia patients consecutively admitted for exacerbation of symptoms to the inpatient clinic of Fondazione IRCCS Policlinico (Milan) or ASST Monza in Italy from 2008 to 2021. Univariate analyses, binary logistic regression, and a final logistic regression model were performed with gender as dependent variable. Results: The final logistic regression models showed that male patients (compared to females) were more prone to lifetime substance use disorders (p = 0.010). However, they also had higher GAF (global functioning) mean scores (p < 0.001) at the time of hospitalization. Univariate analyses showed that male patients (with respect to females) had an earlier age at onset (p < 0.001), a more frequent family history of multiple psychiatric disorders (p = 0.045), were more often smokers (p < 0.001), had a more frequent comorbidity with at least one psychiatric disorder (p = 0.001), and less often suffered from hypothyroidism (p = 0.011). In addition, men had higher levels of albumin (p < 0.001) and bilirubin (t = 2.139, p = 0.033), but lower levels of total cholesterol (t = 3.755, p < 0.001). Conclusions: Our analyses indicate a less severe clinical profile in female patients. This is evident especially in the early years of the disorder, as suggested by less comorbidity with psychiatric disorders or later age at onset; this is consistent with the related literature. In contrast, female patients seem to be more vulnerable to metabolic alterations as demonstrated by more frequent hypercholesterolemia and thyroid dysfunction. Further studies are needed to confirm these results in the framework of precision medicine. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Prevalence of body dysmorphic disorder, its clinical characteristics and psychiatric comorbidities in patients admitted to a plastic surgery outpatient clinic.
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Şimşek, Fadime, Kaya, Nazmiye, Altuntaş, Zeynep, and Gıca, Şakir
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The present study aimed to determine the prevalence of body dysmorphic disorder (BDD), its clinical features, and comorbidities in patients applying for plastic and reconstructive surgery. Five-hundred and seventy nine participants who applied to the plastic and reconstructive surgery outpatient clinic completed a sociodemographic data form, and were subjected to the Body Perception Scale (seventy-nineBPS), Social Appearance Anxiety Scale (SAAS), TEMPS-A Temperament Scale, and Beck Depression Inventory (BDI). Participants who scored 135 or more on the BPS were included in a psychiatric interview. Next, the participants diagnosed with BDD were compared with participants with a high BPS scores but without a BDD diagnosis, along with a control group. The prevalence of BDD among all patients attending the plastic surgery outpatient clinic was found to be 4.7%, whereas the prevalence was 8.6% among those specifically seeking cosmetic procedures. The mean SAAS, BDI, TEMPS-A depressive, and anxious scores were higher in the BDD group compared to the controls (p < 0.001). The difference in the mean SAAS, BDI, TEMPS-A depressive, and anxious scores of the patients with a high BPS scores and the control group was comparable to the difference observed between the BDD and control groups. A regression analysis revealed that the SAAS and depressive temperament scores have an effect on the BPS score. The significantly high comorbidity of BDD in patients seeking plastic and reconstructive surgery underscores the importance of identifying these patients to prevent unnecessary surgical procedures. [ABSTRACT FROM AUTHOR]
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- 2024
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17. Clinical Features of ACPA-Negative and ACPA-Positive Variants of Rheumatoid Arthritis.
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Dibrov, D. A., Avdeeva, A. S., Rybakova, V. V., Demidova, N. V., and Nasonov, E. L.
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RHEUMATOID arthritis , *JOINT pain , *WRIST joint , *BLOOD sedimentation , *RHEUMATOID arthritis diagnosis , *WRIST - Abstract
The aim of the study was to investigate the features of the clinical picture of the disease in patients with ACPA–negative and ACPA-positive variants of rheumatoid arthritis. Materials and methods. : The study included patients with a reliable diagnosis of rheumatoid arthritis (RA) according to the criteria of ACR/EULAR 2010. Depending on the ACPA values, two groups of patients were recruited: ACPA-positive and ACPA-negative, comparable in gender, age, duration of the disease, and therapy. The nature of the onset and course of the disease and the activity of RA were evaluated (according to the DAS28, SDAI, CDAI indices). Results and discussion. : The study involved 79 patients with ACPA-negative variant of RA and 79 ACPA-positive patients. The age of patients (Me [IR] (in years)) with the ACPA(–) variant was 52 [39; 62]; with the ACPA(+) variant, 54 [42; 62]; the duration of the disease (in months) was 59 [23; 122] and 48 [17; 84], respectively. In ACPA(+) patients, a higher disease activity was determined (by the indices DAS 28crp, DAS28esr, SDAI, CDAI), higher values of C-reactive protein and erythrocyte sedimentation rate, and a greater number of painful and swollen joints (p < 0.05). According to the localization of the involved joints, arthritis of the proximal interphalangeal, metacarpal, wrist and shoulder joints was more often determined in ACPA(+) patients. Systemic manifestations of RA at the time of examination and in the anamnesis were statistically significantly more common in ACPA(+) (32.9%) than in ACPA(–) (17.7%) patients. Of the systemic manifestations, rheumatoid nodules were more common in ACPA(+) patients, whereas a tendency to a higher frequency of neuropathy, sclerites, and episcleritis was revealed in ACPA(–) patients. Conclusions:. In patients with ACPA(–) subtype, clinical signs of joint damage and the inflammatory component are less pronounced compared to ACPA(+). However, the mixed picture of manifestation, the less "bright" course of the disease, the absence of characteristic immunological biomarkers necessitate long-term and careful monitoring of this group of patients. At the same time, the subjective severity of the disease and dysfunction due to ankylosing joints do not differ from the ACPA(+) variant of RA. [ABSTRACT FROM AUTHOR]
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- 2024
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18. A new groin hernia classification with clinical relevance.
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Yang, George, Tung, K. L. M., Tumtavitikul, S., and Li, M. K. W.
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INGUINAL hernia , *LITERATURE reviews , *HERNIA , *GROIN , *TASK forces - Abstract
Introduction: Groin hernia is one of the most commonly managed surgical diseases around the world. The typical question asked by patients is "Does my hernia require urgent surgery?". The currently available classifications are insufficient to stratify patients into different groups. We propose a new classification that incorporates diverse clinical elements together with anatomical and other vital information, which allows us to stratify patients into different groups. Method: A task force was formed by the Hong Kong Hernia Society, working with international expert hernia surgeons. The framework of the classification system was formulated. Clinical elements that are important in groin disease stratification were identified. A comprehensive literature review was conducted using PubMed. Those which dictate the severity of the disease were selected and compiled to form the new proposed classification. Application of this classification model to a single hernia surgeon's registry in The Hong Kong Adventist Hospital Hernia Centre was done for initial evaluation. Result: This new classification incorporates important clinical characteristics forming a total of nine grades of differentiation, together with the anatomical details and special information. This comprehensive system allows the stratification of patients into different groups based on disease severity. It also enables more accurate data collection for future audits, comparisons of disease progression over time, and the effect of different management strategies for different-stage patients. Conclusion: This is the first classification system which incorporates essential clinical parameters, which allows the stratification of groin hernia into different stages. Further studies and validation should be performed to evaluate the usefulness and value of this classification in groin hernia management. [ABSTRACT FROM AUTHOR]
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- 2024
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19. Neuromyelitis optica spectrum disorder: Exploring the diverse clinical manifestations and the need for further exploration.
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Noori, Hamid, Marsool, Mohammed Dheyaa Marsool, Gohil, Krutika Mahendra, Idrees, Muhammad, Subash, Tushar, Alazzeh, Zainab, Prajjwal, Priyadarshi, Jain, Hritvik, and Amir, Omniat
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TRANSVERSE myelitis , *CENTRAL nervous system , *NEUROMYELITIS optica , *OPTIC neuritis , *SYMPTOMS , *SPINAL cord - Abstract
Background: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder characterized by inflammatory assaults on the central nervous system (CNS), particularly on the optic nerves and spinal cord. In recent years, a wider range of clinical manifestations of this complex disease have been observed, emphasizing the importance of gaining a more profound understanding beyond optic neuritis (ON) and transverse myelitis (TM). Current knowledge: This study explores the many clinical symptoms of NMOSD, including common and uncommon presentations. Distinctive aspects of ON, TM, and diencephalic/brainstem syndromes are examined, highlighting their unique characteristics in contrast to conditions such as multiple sclerosis. We also discuss extra‐CNS involvement, such as unusual signs, including muscle involvement, retinal injury, auditory impairment, and rhinological symptoms. Aims and objectives: Our study intends to highlight the wide range and complexity of NMOSD presentations, emphasizing the significance of identifying unusual symptoms for precise diagnosis and prompt management. The specific processes that contribute to the varied clinical presentation of NMOSD are not well understood despite existing information. This emphasizes the necessity for more study to clarify the mechanisms that cause different symptoms and discover new treatment targets for this complex autoimmune disorder. Conclusion: It is essential to acknowledge the complex and varied clinical manifestations of NMOSD to enhance diagnosis, treatment, and patient results. By enhancing our comprehension of the fundamental processes and investigating innovative therapeutic approaches, we may aim to enhance the quality of life for persons impacted by this illness. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Depression and anxiety in multiple sclerosis. Review of a fatal combination.
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Jellinger, Kurt A
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TRANSCRANIAL magnetic stimulation , *SYMPTOMS , *MENTAL depression , *DEMYELINATION , *LARGE-scale brain networks - Abstract
Depression and anxiety are the most frequent neuropsychiatric symptoms of multiple sclerosis (MS), an autoimmune-mediated demyelinating neurodegenerative disease. Their prevalence is 25–65% and 20–54%, respectively, often associated with chronic fatigue and cognitive impairment, but usually not correlated with motor and other deficits, suggesting different pathophysiological mechanisms. Both disorders often arise before MS diagnosis, lead to faster disability and impair the quality of life. Risk factors are (young) age, genetic and family history burden. While no specific neuropathological data for depression (and anxiety) in MS are available, modern neuroimaging studies showed bilateral fronto-temporal, subcortical and limbic atrophies, microstructural white matter lesions and disruption of frontoparietal, limbic and neuroendocrine networks. The pathogenesis of both depression and anxiety in MS is related to shared mechanisms including oxidative stress, mitochondrial dysfunction, neuroinflammation and neuroendocrine mechanisms inducing complex functional and structural brain lesions, but they are also influenced by social and other factors. Unfortunately, MS patients with anxiety, major depression or suicidal thoughts are often underassessed and undertreated. Current treatment, in addition to antidepressant therapy include transcranial magnetic stimulation, cognitive, relaxation, dietary and other healthcare measures that must be individualized. The present state-of- the-art review is based on systematic analysis of PubMed, Google Scholar and Cochrane Library until May 2024, with focus on the prevalence, clinical manifestation, neuroimaging data, immune mechanisms and treatment options. Depression and anxiety in MS, like in many other neuroimmune disorders, are related, among others, to multi-regional patterns of cerebral disturbances and complex pathogenic mechanisms that deserve further elucidation as a basis for early diagnosis and adequate management to improve the quality of life in this disabling disease. [ABSTRACT FROM AUTHOR]
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- 2024
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21. Clinical characteristics and prognostic factor in juvenile dermatomyositis: data of the Spanish registry.
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Carriquí-Arenas, Sonia, Mosquera, Juan Manuel, Quesada-Masachs, Estefanía, López, Mireia, Clemente, Daniel, Boteanu, Alina, Udaondo, Clara, de Inocencio, Jaime, Nieto, Juan Carlos, Riancho, Leyre, Núñez, Esmeralda, Sánchez-Manubens, Judith, Lirola, María José, Roldán, Rosa, Camacho, Marisol, Martínez, Melania, Medrano, Marta, Alcañiz, Paula, Antón, Jordi, and Iglesias, Estíbaliz
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MUSCLE weakness , *PEDIATRIC rheumatology , *CALCINOSIS , *PROGNOSIS , *SYMPTOMS - Abstract
Background: Juvenile Dermatomyositis (JDM) is the most common chronic idiopathic inflammatory myopathy in children. The diagnosis is clinical. Baseline laboratory and complementary studies trace the phenotype of these patients. The objective of this study was to describe epidemiological, clinical and laboratory characteristics at diagnosis of JDM patients included in the Spanish JDM registry, as well as to identify prognostic factors on these patients. Methods: We retrospectively reviewed clinical features, laboratory tests, and complementary studies at diagnosis of JDM patients included on the Spanish JDM registry. These data were analyzed to assess whether there was a relationship with the development of complications and time to disease inactivity. Results: One hundred and sixteen patients from 17 Spanish paediatric rheumatology centres were included, 76 girls (65%). Median age at diagnosis was 7.3 years (Interquartile range (IQR) 4.5–10.2). All patients had pathognomonic skin lesions at the beginning of the disease. Muscle weakness was present in 86.2%. Median Childhood Muscle Assessment Scale was 34 (IQR 22–47). Twelve patients (34%) had dysphagia and 3,5% dysphonia. Anti-p155 was the most frequently detected myositis specific antibody, followed by anti-MDA5. Twenty-nine patients developed calcinosis and 4 presented with macrophage activation syndrome. 70% reached inactivity in a median time of 8.9 months (IQR 4.5–34.8). 41% relapsed after a median time of 14.4 months (IQR 8.6–22.8) of inactivity. Shorter time to treatment was associated with better prognosis (Hazard ratio (HR) = 0.95 per month of evolution, p = 0.02). Heliotrope rash at diagnosis correlates with higher risk of development complications. Conclusions: We describe heliotrope rash as a risk factor for developing complications in our cohort of JDM patients, an easy-to-evaluate clinical sign that could help us to identify the group of patients we should monitor closely for this complication. [ABSTRACT FROM AUTHOR]
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- 2024
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22. Effect of Nutritional Support on Energy Balance and Its Clinical Outcome in ICU [Intensive Care Unit] Patients.
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Jamal, Amina, Abraham, Jiby, Neeliyara, Anju M., and Saji, Akshara
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INTENSIVE care units , *TREATMENT effectiveness , *INTENSIVE care patients , *GLASGOW Coma Scale , *NUTRITIONAL requirements - Abstract
AbstractCritical care is the specialized treatment provided to patients in intensive care units who are severely ill and need extensive care and close monitoring. Hence the present study was undertaken. A total of hundred samples were collected exclusively on those who stayed a minimum of five days in Intensive Care Unit from two reputed Multispecialty Tertiary Hospitals from Kerala, India. APACHE II scoring system, Day World Wide’s ICU Questionnaire and Glasgow Coma Scale were adopted to collect patient’s data such as personal details, demographic data, medical history, bio-physical parameters, bio- chemical parameters, feeding techniques, time of feeding and nutritional requirements. Admission to Medical ICU were about 43% with respiratory failure, sepsis and other infections, 22% were admitted with neurological diseases and 35% were nephrology patient. It is evident that about 79% were suffering from anorexia. Comparing the administration of exclusive commercial feed to commercial plus kitchen feed, it was observed that patients fed with the latter experienced increased abdominal pain (21%) and vomiting (17%). Diarrhea was more common in patients fed with commercial formula (12%), while constipation was higher in patients fed with kitchen feed (19%). There is no conclusive evidence favoring either exclusive commercial feed or kitchen plus commercial feed. A small percentage (7%) of patients had a mortality rate exceeding 80%. Positive outcomes were observed in critically ill patients through the enteral feeding system, with no significant difference between exclusive commercial feed and kitchen plus commercial feed. [ABSTRACT FROM AUTHOR]
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- 2024
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23. Gene signatures of copper metabolism related genes may predict prognosis and immunity status in Ewing's sarcoma.
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Yongqin Chen, Wencan Zhang, Xiao Xu, Biteng Xu, Yuxuan Yang, Haozhi Yu, Ke Li, Mingshan Liu, Lei Qi, and Xiejia Jiao
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EWING'S sarcoma ,COPPER ,GENE expression ,RECEIVER operating characteristic curves ,GENES - Abstract
Background: Cuproptosis is copper-induced cell death. Copper metabolism related genes (CMRGs) were demonstrated that used to assess the prognosis out of tumors. In the study, CMRGs were tested for their effect on TME cell infiltration in Ewing's sarcoma (ES). Methods: The GEO and ICGC databases provided the mRNA expression profiles and clinical features for downloading. In the GSE17674 dataset, 22prognostic-related copper metabolism related genes (PR-CMRGs) was identified by using univariate regression analysis. Subsequently, in order to compare the survival rates of groups with high and low expression of these PR-CMRGs, Kaplan-Meier analysis was implemented. Additionally, correlations among them were examined. The study employed functional enrichment analysis to investigate probable underlying pathways, while GSVA was applied to evaluate enriched pathways in the ES (Expression Set). Through an unsupervised clustering algorithm, samples were classified into two clusters, revealing significant differences in survival rates and levels of immune infiltration. Results: Using Lasso and step regression methods, five genes (TFRC, SORD, SLC11A2, FKBP4, and AANAT) were selected as risk signatures. According to the Kaplan-Meier survival analysis, the high-risk group had considerably lower survival rates than the low-risk group(p=6.013e-09). The area under the curve (AUC) values for the receiver operating characteristic (ROC) curve were 0.876, 0.883, and 0.979 for 1, 3, and 5 years, respectively. The risk model was further validated in additional datasets, namely GSE63155, GSE63156, and the ICGC datasets. To aid in outcome prediction, a nomogram was developed that incorporated risk levels and clinical features. This nomogram's performance was effectively validated through calibration curves. Additionally, the study evaluated the variations in immune infiltration across different risk groups, as well as high-expression and low-expression groups. Importantly, several drugs were identified that displayed sensitivity, offering potential therapeutic options for ES. Conclusion: The findings above strongly indicate that CMRGs play crucial roles in predicting prognosis and immune status in ES. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Celiac Disease: A Forty-Year Analysis in an Italian Referral Center.
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Lungaro, Lisa, Costanzini, Anna, Manza, Francesca, Caputo, Fabio, Remelli, Francesca, Volpato, Stefano, De Giorgio, Roberto, Volta, Umberto, and Caio, Giacomo
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Background: Celiac disease (CD) is an autoimmune disorder triggered by gluten ingestion. Herein, we assessed clinical, serological and histopathological findings of a single-center, large cohort of CD patients diagnosed and followed-up over forty years. Methods: From January 1980 to December 2020, 1547 CD patients (1170 females; age range: 8–81 years; F:M ratio = 3.1:1) were diagnosed in an Italian tertiary referral center. Comorbidities and complications were recorded at diagnosis and during follow-up. Results: CD diagnoses quadrupled after 2000. The most frequent phenotype was the non-classical CD (63.3%), and the most prevalent histotype was Marsh 3C (44.7%). Gastrointestinal manifestations, detectable in 51% of patients, were diarrhea (24.3%), bloating (28%) and aphthous stomatitis (19.7%). The most common CD-associated disorder was osteopenia (59.9%), predominant in females (64.3%); extraintestinal manifestations included anemia (35.8% iron-deficiency; 87% folic acid malabsorption), cryptogenic hypertransaminasemia (27.9%), and recurrent miscarriages (11.5%). Thyroiditis (26.9%), type 1 diabetes mellitus (2.9%), and dermatitis herpetiformis (1.4%) were the most common CD-related autoimmune disorders. Six patients had inflammatory bowel disease. Complications and mortality rate occurred in 1.8% and 1.9%, respectively. Conclusions: This single-center, large cohort analysis confirmed that CD presentation changed over the years, with an increase of non-classical and subclinical clinical phenotypes. [ABSTRACT FROM AUTHOR]
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- 2024
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25. A comparison of clinical characteristics and course predictors in early‐ and childhood‐onset schizophrenia.
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Baykal, Saliha, Bozkurt, Abdullah, Çobanoğlu Osmanlı, Cansu, Önal, Bedia Sultan, Şahin, Berkan, Karadoğan, Zeynep Nur, Karadağ, Mehmet, Hangül, Zehra, Kılıçaslan, Fethiye, Ayaydın, Hamza, Uzun, Necati, Demirdöğen, Esen Yıldırım, Akıncı, Mehmet Akif, Bilaç, Öznur, Büber, Ahmet, Tufan, Ali Evren, Aksu, Gülen Güler, Taner, Hande Ayraler, Sarı, Burcu Akın, and Kütük, Meryem Özlem
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SCHIZOPHRENIA , *SYMPTOMS , *OBSESSIVE-compulsive disorder , *FILES (Records) , *PATHOLOGICAL psychology - Abstract
Aim Methods Results Conclusion The aim of this study was to compare the clinical characteristics of childhood‐onset schizophrenia (COS) and early‐onset schizophrenia (EOS) during the first‐ episode psychosis and the stable period, to examine psychopharmacological treatment approaches, and to investigate potential predictive factors for prognosis.Demographic, clinical, and psychopharmacological therapy data for 31 patients diagnosed with COS and 66 with EOS were retrieved from the file records in this multicenter study. Symptom distribution and disease severity and course were evaluated twice, in the acute psychotic stage and in the latest stable phase, during follow‐up using the positive and negative syndrome scale (PANSS) and clinical global impression (CGI) scales.A statistically significant difference was observed between the groups' CGI improvement rates and median last stable stage PANSS positive, negative, and general psychopathology symptom scores (p = .005, p = .031, p = .005, and p = .012, respectively). Premorbid neurodevelopmental disorder and obsessive‐compulsive disorder and comorbidities were more common in the COS group (p = .025 and p = .030, respectively), and treatment required greater multiple antipsychotic use in that group (p = .013). When the independent variables affecting the difference between pre‐ and post‐treatment PANSS scores were examined using linear regression analysis, the model established was found to be statistically significant (F = 5.393; p = .001), and the group variable (p = .024), initial disease severity (p = .001), and socioeconomic level (p = .022; p = .007) emerged as predictive factors for the disease course.Although early diagnosis and treatment is an important factor in improving prognosis in schizophrenia, more specific predictors for schizophrenia need to be identified. Additionally, preventive programs and pharmacological methods need to be developed in children with neurodevelopmental problems, particularly those from low socioeconomic status families. [ABSTRACT FROM AUTHOR]
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- 2024
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26. Comprehensive evaluation of vaginal intraepithelial neoplasia development after hysterectomy: insights into diagnosis and treatment strategies.
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Wei, Jiahui and Wu, Yumei
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HYSTERECTOMY , *HUMAN papillomavirus , *TUMORS , *DIAGNOSIS , *PRECANCEROUS conditions , *GENITAL warts - Abstract
Vaginal intraepithelial neoplasia (VaIN), a precancerous lesion associated with human papillomavirus (HPV), impacts women's health and quality of life. However, the natural progression of VaIN after hysterectomy remains uncertain, due to its low incidence. The existing literature predominantly consists of single-center retrospective studies lacking robust evidence-based medicine. The management of VaIN after hysterectomy is diverse and controversial, lacking a consensus on the optimal approach. Therefore, it is imperative to investigate the development of VaIN after hysterectomy, emphasizing the importance of accurate diagnosis and effective management strategies. [ABSTRACT FROM AUTHOR]
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- 2024
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27. Clinical phenotypes of adult-onset Behçet's syndrome: a comprehensive cross-sectional study in China.
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She, Chun-Hui, Hu, Dan, Zou, Jun, Bao, Hua-Fang, Shen, Yan, Cai, Jian-Fei, Ye, Jing‑Fen, Luo, Dan, Jian, Lei-Lei, Ma, Hai‑Fen, Hou, Cheng-Cheng, Chen, Yong, and Guan, Jian-Long
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BEHCET'S disease , *PHENOTYPES , *CROSS-sectional method , *CLUSTER analysis (Statistics) , *DISEASE duration - Abstract
Behçet's syndrome (BS) is a variant vasculitis that can involve multiple organs with inflammatory manifestations. This study aimed to provide a more comprehensive analysis of the clinical phenotypes and characteristics of BS patients. We enrolled 2792 BS patients referred from China nationwide to Huadong Hospital Affiliated to Fudan University from October 2012 to December 2022. Detailed assessments of demographic information, clinical manifestations, laboratory results, gastroscopy, and medical imaging were conducted. Cluster analysis was performed based on 13 variables to determine the clinical phenotypes, and each phenotype was characterized according to the features of BS patients. A total of 1834 BS patients were included, while 958 invalid patients were excluded. The median age at onset was 31 years (IQR, 24–40 years), and the median disease duration was 10 years (IQR, 5–15 years). Eight clusters were identified, including mucocutaneous (n = 655, 35.7%), gastrointestinal (n = 363, 19.8%), articular (n = 184, 10%), ocular (n = 223, 12.2%), cardiovascular (n = 119, 6.5%), neurological (n = 118, 6.4%), vascular (n = 114, 6.2%), and hematological phenotype (n = 58, 3.2%). Ocular (RR = 1.672 (95% CI, 1.327–2.106); P < 0.001), gastrointestinal (RR = = 1.194 (95% CI, 1.031–1.383); P = 0.018), cardiovascular (RR = = 2.582 (95% CI, 1.842–3.620); P < 0.001), and vascular (RR = = 2.288 (95% CI, 1.600–3.272); P < 0.001) involvement were more prevalent in male BS patients, while the hematological (RR = 0.528 (95% CI, 0.360–0.776); P = 0.001) involvement was more common among female patients. BS presents significant heterogeneity and gender differences. The eight phenotypes of BS patients we propose hold the potential to assist clinicians in devising more personalized treatment and follow-up strategies. Key Points • This cluster analysis divided adult-onset BS into eight clinical phenotypes. • BS demonstrates a high level of clinical heterogeneity and gender differences. • Hematologic phenotypes of BS present distinctive clinical characteristics. [ABSTRACT FROM AUTHOR]
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- 2024
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28. 皮肌炎自身抗体在间质性肺病中的研究进展.
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罗宴冉, 史晓飞, 韩磊, 张贝, and 文路遥
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Myositis antibodies are divided into myositis-specific autoantibodies (MSA) and myositis-associated autoantibodies (MAA). There are heterogeneity in the mechanism, clinical features and prognosis of interstitial lung disease (ILD) in the different myositis antibodies. In MSA, anti-melanoma differentiation-related gene 5 (MDA5) antibody and antiaminoacyl synthetase (ARS) antibody are highly correlated with the occurrence of ILD. Patients with MDA5+ DM-ILD usually have a rapidly progressive and poor prognosis. The progress of ILD in ARS+ DM patients was slow, and the response to treatment is good, but it is easy to relapse. In MAA, anti-Ro52 antibodies often coexist with MSA antibodies, and clinical manifestation is closely related to coexisting antibodies. This review has summarized roles of myositis antibodies in ILD. [ABSTRACT FROM AUTHOR]
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- 2024
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29. 混合性结缔组织病相关肺动脉高压临床特点分析.
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王慧, 潘晴, 王宙明, 张娜, 杨振文, and 魏蔚
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Objective To investigate the clinical characteristics and risk factors of mixed connective tissue disease associated with pulmonary arterial hypertension (MCTD-PAH). Methods Twelve MCTD-PAH patients diagnosed by right heart catheterization (RHC) at Tianjin Medical University General Hospital were retrospectively included, and 36 MCTD patients without pulmonary arterial hypertension (MCTD-non-PAH) were randomly selected from the same period of hospitalization based on gender and age. The clinical features and auxiliary examination of the two groups were compared, and the survival status of the two groups was compared. Results The proportion of dyspnea after activity, myositis and pericardial effusion were higher in the MCTD-PAH group than those of the control group. Serum sedimentation rate and immunoglobulin G (IgG) levels were higher in the MCTD-PAH group. Multivariate Logistic regression analysis showed that dyspnea after activity and high level of IgG were risk factors for predicting the occurrence of PAH in MCTD. Three patients (16.7%) died in the MCTD-PAH group, and no patients died in the control group. Conclusion Pulmonary arterial hypertension is one of the serious complications of MCTD. MCTD patients have shortness of breath after activity and high level of IgG should be wary of concomitant PAH. [ABSTRACT FROM AUTHOR]
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- 2024
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30. Anaesthetic management of a parturient with hypokalaemic periodic paralysis for caesarean section: A case report and review of the literature.
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Vassiliadis, Rachel M
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LITERATURE reviews , *CESAREAN section , *MALIGNANT hyperthermia , *MISOPROSTOL , *POTASSIUM - Abstract
A 32-year-old multigravida woman, with known familial hypokalaemic periodic paralysis, underwent spinal anaesthesia for an elective lower segment caesarean section. There are several case reports in the literature discussing the optimal anaesthetic technique. In the past there has not been an emphasis on aggressive and early potassium replacement. A target level to commence replacement of potassium at 4.0 mmol/L or less is proposed. Careful preoperative preparation, frequent perioperative monitoring and early potassium replacement resulted in no perioperative episodes of weakness in this case, in contrast with other case reports where potassium was either not monitored or not replaced early enough, resulting in postoperative attacks. Another factor to consider in hypokalaemic periodic paralysis is the avoidance of triggers, including certain medications. Misoprostol was used in this instance to avoid potential electrolyte derangements from other uterotonics. [ABSTRACT FROM AUTHOR]
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- 2024
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31. An observational study of farmer-reported clinical mastitis in New Zealand dairy ewes.
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Chambers, G, Laven, R, Grinberg, A, Ridler, A, and Velathanthiri, N
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MATRIX-assisted laser desorption-ionization ,MASTITIS ,EWES ,TIME-of-flight mass spectrometry ,MILK yield ,SHEEP ranches ,SHEEP milk - Abstract
To describe the incidence, aetiology, treatment, and outcomes of farmer-reported clinical mastitis on New Zealand dairy sheep farms. A prospective cohort study was conducted on 20 spring-lambing New Zealand sheep milking farms over the 2022–2023 season. Clinical mastitis was defined as a change in the appearance of milk and/or signs of inflammation in the gland. Farmers were required to report all cases of clinical mastitis and collect information on affected ewes' demographics, clinical features, treatments (where applicable), and outcomes. Milk samples from mastitic glands were submitted for microbiological culture and identification by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF). Partial or complete clinical mastitis data were available for 236 cases from 221 ewes on 18/20 study farms. Clinical mastitis was diagnosed in 0–6% of ewes at the farm level, with an overall incidence of 1.8 (95% CI = 1.0–3.2)% using the study data, or 2.3 (95% CI = 1.6–3.3)% using the study data and farmer estimates that included unreported cases. Cases occurred mostly in early lactation, with 59% detected during the lambing period (August–October), at a median of 7 (IQR 3, 40) days in milk. The majority of cases featured clots in the milk (59%), swelling (55%), and unevenness (71%) of the glands. Pyrexia (rectal temperature $\ge$ ≥ 40.0°C) was diagnosed in 25% of cases and depression (lethargy, inappetence, or inability to stand) in 26% of cases. Treatment was given to 46% of cases, with tylosin being the most commonly used treatment (50% of treated cases). The most common outcome was immediate drying off to be culled without treatment (32%), followed by still milking and recovered but with lasting problems (25%). Nearly half of all the milk samples submitted were culture negative. Streptococcus uberis (14%), non-aureus staphylococci (12%), and Staphylococcus aureus (11%) were the most common isolates, found on 12, 8 and 8 of the 16 farms with microbiological data, respectively. Clinical mastitis affected up to 6% of ewes at the farm level. Systemic signs were observed in one quarter of affected ewes, suggesting a role for supportive treatment. Clinical mastitis can be severe and challenging to fully resolve in New Zealand dairy sheep. This is the first systematic study of clinical mastitis in New Zealand dairy ewes. It provides baseline information specific to New Zealand conditions for farmers, veterinarians, and other advisors to guide the management of mastitis for the relatively new dairy sheep industry in New Zealand. [ABSTRACT FROM AUTHOR]
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- 2024
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32. A gyermekkori Guillain-Barré-szindróma diagnosztikája és prognosztikai faktorai.
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Dorka, Kovács, Sára, Dobner, Léna, Szabó, and Zoltán, Liptai
- Abstract
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- 2024
33. Inborn errors of immunity and its clinical significance in children with lymphoma in China: a single-center study.
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Chao Yang, Nan Li, Meng Zhang, Shuang Huang, Ling Jin, Shu-Guang Liu, Chun-Ju Zhou, Zhi-Gang Li, and Yan-Long Duan
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TUMOR necrosis factor receptors ,CHILDHOOD cancer ,LYMPHOPROLIFERATIVE disorders ,LYMPHOCYTE subsets ,CHILDREN'S hospitals - Abstract
Objective: To investigate the incidence, clinical and genetic characteristics of pediatric lymphoma patients of China with inborn errors of immunity (IEI)-related gene mutations, which have not been fully studied. Method: From Jan. 2020 to Mar. 2023, IEI-related genetic mutations were retrospectively explored in 108 children with lymphomas admitted to Beijing Children's Hospital by NGS. Genetic rule and clinical characteristics as well as treatment outcomes were compared between patients with or without IEI-related gene mutations. Results: A total of 17 patients (15.7 %) harbored IEI-associated mutations, including 4 cases with X-linked lymphoproliferative syndrome (XLP), 3 cases had mutations in tumor necrosis factor receptor superfamily 13B (TNFRSF13B), 2 cases with Activated p110 syndrome (APDS). Patients with IEI all had alteration of immunocompetence with decreased levels of immunoglobulin and lymphocyte subsets. Recurrent infection existed in 41.2 % of patients. The 18-month event-free survival (EFS) and the overall response rate (ORR) of patients with IEI are significantly lower than those without IEI (33.86% vs. 73.26 %, p = 0.011; 52.94% vs. 87.91 %, p = 0.002, respectively). In addition, patients with IEI had a higher progression disease (PD) rate of 23.5 % than those without IEI of 4.4 % (p = 0.006). Conclusion: The present study demonstrated that IEI-associated lymphomas were much more common than originally appreciated in pediatric lymphomas, and those were insensitive to treatment and more likely to progress or relapse. The genomic analysis and a thorough review of the medical history of IEI can be used to distinguish them from pediatric lymphomas without IEI, which are beneficial for the early diagnosis and direct intervention. [ABSTRACT FROM AUTHOR]
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- 2024
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34. A machine learning model based on clinical features and ultrasound radiomics features for pancreatic tumor classification.
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Shunhan Yao, Dunwei Yao, Yuanxiang Huang, Shanyu Qin, and Qingfeng Chen
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MACHINE learning ,PANCREATIC tumors ,RADIOMICS ,TUMOR classification ,ENDOSCOPIC ultrasonography ,COMPUTER-assisted image analysis (Medicine) - Abstract
Objective: This study aimed to construct a machine learning model using clinical variables and ultrasound radiomics features for the prediction of the benign or malignant nature of pancreatic tumors. Methods: 242 pancreatic tumor patients who were hospitalized at the First Affiliated Hospital of Guangxi Medical University between January 2020 and June 2023 were included in this retrospective study. The patients were randomly divided into a training cohort (n=169) and a test cohort (n=73). We collected 28 clinical features from the patients. Concurrently, 306 radiomics features were extracted from the ultrasound images of the patients' tumors. Initially, a clinical model was constructed using the logistic regression algorithm. Subsequently, radiomics models were built using SVM, random forest, XGBoost, and KNN algorithms. Finally, we combined clinical features with a new feature RAD prob calculated by applying radiomics model to construct a fusion model, and developed a nomogram based on the fusion model. Results: The performance of the fusion model surpassed that of both the clinical and radiomics models. In the training cohort, the fusion model achieved an AUC of 0.978 (95% CI: 0.96-0.99) during 5-fold cross-validation and an AUC of 0.925 (95% CI: 0.86-0.98) in the test cohort. Calibration curve and decision curve analyses demonstrated that the nomogram constructed from the fusion model has high accuracy and clinical utility. Conclusion: The fusion model containing clinical and ultrasound radiomics features showed excellent performance in predicting the benign or malignant nature of pancreatic tumors. [ABSTRACT FROM AUTHOR]
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- 2024
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35. Compare Clinical Characteristics of Psittacosis Pneumonia in 35 Patients and of Non Psittacosis Bacterial Pneumonia in 46 Patients.
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Chen, Jiamei, Wang, Jin, Deng, Ziwei, Li, Yongzhong, and Zhou, Jianliang
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COMMUNITY-acquired pneumonia ,PLEURAL effusions ,COMPUTED tomography ,DYSPNEA ,LACTATE dehydrogenase - Abstract
Background: We aimed to describe the difference between Chlamydia psittaci pneumonia group and non C. psittaci bacterial pneumonia group in community acquired pneumonia in this single-center clinical study. Methods: We collected the data of 35 patients with C. psittaci pneumonia cases and 46 patients with non C. psittaci bacterial pneumonia cases diagnosed with metagenomic next-generation sequencing assays from February 2019 to December 2021 in Huaihua First People's Hospital in China. Results: In the C. psittaci pneumonia group, 35 patients (100%) had a chance of exposure to poultry or birds, and their body temperature was greater than or equal to 39.0°C. The other common symptoms were a slow pulse (68.6%), cough (65.7%), expectoration (54.3%), chills (51.4%) and a shortness of breath (37.1%). Laboratory tests showed that > 90% of the cases had markedly elevated infection indicators, and 97.1% of the cases had markedly declined calcium. The most common imaging finding was patchy shadows (94.3%), pleural effusion (68.6%), bilateral in 54.3% (n = 19) and unilateral in 45.7% (n = 16) participants, and 51.4% (n = 18) of cases met the criteria for severe pneumonia. In the non C. psittaci bacterial pneumonia group, 18 patients (39.1%) had a chance of exposure to poultry or birds, and 11 patients (23.9%) body temperature was greater than or equal to 39.0°C. Laboratory tests showed that > 67% of cases had a mildly elevated infection indicators, and mildly declined serum albumin. Conclusion: The following characteristics are more likely to help distinguish C. psittaci pneumonia from non C. psittaci bacterial pneumonia. Including had a chance of exposure to poultry or birds, high fever, exhibit chills, expectoration, relatively slow pulse, and progress into severe pneumonia. Percentage of neutrophils, C-reactive protein, procalcitonin, lactate dehydrogenase, and myoglobin levels are higher. Blood calcium and corrected calcium are lower. Chest CT showed pleural effusion, pericardial effusion, and mediastinal lymphadenopathy. [ABSTRACT FROM AUTHOR]
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- 2024
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36. DenseNet model incorporating hybrid attention mechanisms and clinical features for pancreatic cystic tumor classification.
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Tian, Hui, Zhang, Bo, Zhang, Zhiwei, Xu, Zhenshun, Jin, Liang, Bian, Yun, and Wu, Jie
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DEEP learning ,PANCREATIC tumors ,TUMOR classification ,MAGNETIC resonance imaging ,DEEP brain stimulation ,ATTENTION ,DIAGNOSTIC imaging ,SOYBEAN cyst nematode - Abstract
Purpose: The aim of this study is to develop a deep learning model capable of discriminating between pancreatic plasma cystic neoplasms (SCN) and mucinous cystic neoplasms (MCN) by leveraging patient‐specific clinical features and imaging outcomes. The intent is to offer valuable diagnostic support to clinicians in their clinical decision‐making processes. Methods: The construction of the deep learning model involved utilizing a dataset comprising abdominal magnetic resonance T2‐weighted images obtained from patients diagnosed with pancreatic cystic tumors at Changhai Hospital. The dataset comprised 207 patients with SCN and 93 patients with MCN, encompassing a total of 1761 images. The foundational architecture employed was DenseNet‐161, augmented with a hybrid attention mechanism module. This integration aimed to enhance the network's attentiveness toward channel and spatial features, thereby amplifying its performance. Additionally, clinical features were incorporated prior to the fully connected layer of the network to actively contribute to subsequent decision‐making processes, thereby significantly augmenting the model's classification accuracy. The final patient classification outcomes were derived using a joint voting methodology, and the model underwent comprehensive evaluation. Results: Using the five‐fold cross validation, the accuracy of the classification model in this paper was 92.44%, with an AUC value of 0.971, a precision rate of 0.956, a recall rate of 0.919, a specificity of 0.933, and an F1‐score of 0.936. Conclusion: This study demonstrates that the DenseNet model, which incorporates hybrid attention mechanisms and clinical features, is effective for distinguishing between SCN and MCN, and has potential application for the diagnosis of pancreatic cystic tumors in clinical practice. [ABSTRACT FROM AUTHOR]
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- 2024
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37. Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia
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Jing-Ying Zhang, Chun-Rong Chen, Jia-Yue Qin, Di-Ying Shen, Li-Xia Liu, Hua Song, Tian Xia, Wei-Qun Xu, Yan Wang, Feng Zhu, Mei-Xin Fang, He-Ping Shen, Chan Liao, Ao Dong, Shan-Bo Cao, Yong-Min Tang, and Xiao-Jun Xu
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NUP98 rearrangement ,Acute myeloid leukemia ,Molecular characteristics ,Clinical features ,Targeted next-generation sequencing ,Medicine - Abstract
Abstract Background NUP98 rearrangements (NUP98-r) are rare but overrepresented mutations in pediatric acute myeloid leukemia (AML) patients. NUP98-r is often associated with chemotherapy resistance and a particularly poor prognosis. Therefore, characterizing pediatric AML with NUP98-r to identify aberrations is critically important. Methods Here, we retrospectively analyzed the clinicopathological features, genomic and transcriptomic landscapes, treatments, and outcomes of pediatric patients with AML. Results Nine patients with NUP98-r mutations were identified in our cohort of 142 patients. Ten mutated genes were detected in patients with NUP98-r. The frequency of FLT3-ITD mutations differed significantly between the groups harboring NUP98-r and those without NUP98-r (P = 0.035). Unsupervised hierarchical clustering via RNA sequencing data from 21 AML patients revealed that NUP98-r samples clustered together, strongly suggesting a distinct subtype. Compared with that in the non-NUP98-r fusion and no fusion groups, CMAHP expression was significantly upregulated in the NUP98-r samples (P
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- 2024
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38. Model Predicting the Risk of Endometrial Hyperplasia Developing into Endometrial Cancer
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Su J, She L, Fan Y, Wang H, Zhang Q, Zhang J, and Ma H
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retrospective ,endometrial hyperplasia ,endometrial cancer ,clinical features ,high-risk factors ,regression ,Pathology ,RB1-214 ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Jing Su,1,* Lina She,1,* Yang Fan,1 Honghong Wang,2 Qiaorui Zhang,1 Jiao Zhang,1 Hongyun Ma1 1Department of Obstetrics and Gynecology, People’s Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Yinchuan, People’s Republic of China; 2Department of Pathology, People’s Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Yinchuan, People’s Republic of China*These authors contributed equally to this workCorrespondence: Hongyun Ma, Department of Obstetrics and Gynecology, People’s Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, No. 301, Zhengyuan North Street, Jinfeng District, Yinchuan, 750002, Ningxia, People’s Republic of China, Tel +86-15378975354, Email mahongyun2021@163.comBackground: This study retrospectively analyzed the medical records of 200 patients with endometrial hyperplasia to predict the risk of concurrent endometrial cancer.Methods: Patients were categorized into either the endometrial cancer group or the endometrial hyperplasia group based on post-hysterectomy pathology. The investigation compared general information, tumor indices, fertility history, preoperative endometrial sampling methods, comorbidities, and clinical symptoms between the groups to identify risk factors for endometrial hyperplasia complicating endometrial cancer.Results: (1) Of the 200 patients, 68 (34.0%) were diagnosed with concurrent endometrial cancer post-hysterectomy. Among these, 60 (88.24%) had endometrioid adenocarcinoma, while 8 (11.76%) had other types. Stage I was identified in 58 patients (85.29%) and Stage II in 10 patients (14.71%). High differentiation was observed in 57 cases (83.82%), moderate differentiation in 7 cases (10.29%), and poor differentiation in 4 cases (5.89%), indicating that most endometrial cancers complicated by hyperplasia were early-stage, well-differentiated endometrioid carcinomas; (2) Univariate analysis revealed statistically significant differences in age, menopausal status, length of menopause, and preoperative endometrial pathology of severe atypical hyperplasia between the groups; (3) Multivariate analysis indicated significant differences for age ≥ 53.5 years (OR: 4.307, 95% CI: 2.018– 9.192, p < 0.05), menopausal status (OR: 5.250, 95% CI: 2.449– 11.252, p < 0.05), and severe atypical endometrial hyperplasia (OR: 4.817, 95% CI: 1.260– 18.419, p < 0.05); (4) Significant differences were observed among patients with endometrial hyperplasia when stratified by the presence of zero, one, two, or three high-risk factors.Conclusion: In conclusion, patients aged ≥ 53.5 years, those who are menopausal, and those with severe atypical endometrial hyperplasia preoperatively are at higher risk for endometrial cancer. The risk increases with the number of high-risk factors present in patients with atypical endometrial hyperplasia.Keywords: retrospective, endometrial hyperplasia, endometrial cancer, clinical features, high-risk factors, regression
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- 2024
39. Clinical characteristics analysis of 114 patients with syphilitic chorioretinitis
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Gao Fan, Wang Xia, Gu Lili, and Wang Yanrong
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syphilis ,chorioretinitis ,clinical features ,fundus angiography ,optical coherence tomography(oct) ,age ,occupation ,Ophthalmology ,RE1-994 - Abstract
AIM: To investigate the onset of age, gender, profession, marital characteristics, clinical symptoms, signs, image characteristics of fundus and laser scanning features of syphilitic chorioretinitis.METHODS: Retrospective case series study. A total of 114 patients(138 eyes), 24 of whom were double eyes diagnosed with syphilitic chorioretinitis from January 2006 to January 2023 were included in this study. All of the data were collected from eye examination including the best corrected visual acuity(BCVA), intraocular pressure(IOP), fundus photography, optical coherence tomography(OCT), fundus fluorescein angiography(FFA), indocyanine green angiography(ICGA), visual field, visual evoked response; and blood tests including rapid plasma reagin(RPR)test and treponema pallidum hemagglutination(TPPA)test, tuberculin test, tuberculosis spot test, human immunodeficiency virus, human leukocyte antigen-B27, rheumatism series examination.RESULTS: All patients tested positive for RPR and TPPA, while other laboratory tests were negative, confirming the diagnosis of syphilitic chorioretinopathy. The average age of onset was 44±13.1 years old, with 59 males(51.8%), 55 females(48.2%), 90 monocular cases(78.9%), and 24 binocular cases(21.1%), and there were no significant differences in gender, marriage, or occupation. The main clinical features were visual loss, hyperemia of the optic disc, grayish-yellow opacity of the central retina; FFA mainly showed early dot weak background fluorescence in the peripheral region of the macula, retinal blood vessel fluorescence leakage staining, retinal pigment epithelium(RPE)fluorescence accumulation and optic disc staining or strong fluorescence; ICGA and OCT were mainly manifested by squamous weak fluorescence of the posterior retina; and the manifestations of FFA and ICGA were symmetrical; OCT revealed hyperreflective dots and pinpoint projection of RPE.CONCLUSION: The median age of onset in patients with syphilitic chorioretinitis is 44 years old, and monocular onset is more common. The patient's gender, marriage, and occupation have no significant characteristics. The clinical manifestations mainly include decreased vision, gray white cells in the vitreous body, thickening of the posterior pole retina, and grayish yellow changes. Correctly identifying OCT, FFA, and ICGA features can reduce missed diagnosis and misdiagnosis, and make an early and correct diagnosis and treatment of patients.
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- 2024
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40. Epidemiological and clinical features of measles on the example of an outbreak in the Penza region
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J. Yu. Kurmaeva, A. V. Afonin, S. B. Rybalkin, V. L. Melnikov, and M. V. Nikolskaya
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measles ,morbidity ,clinical features ,anti-epidemic measures ,prevention ,Medicine - Abstract
Currently, many countries around the world, including Russia, are experiencing an increase in measles morbidity. One of the reasons for this rise is a decrease in the number of vaccinated persons and violation of vaccination schemes. Aim of the study was to investigate of epidemiologic and clinical features of the disease during the measles outbreak in Penza Oblast in 2023. Material and Methods. A retrospective analysis of 73 medical records of patients during the outbreak of the disease in the village of Srednaya Elyuzan, Penza region, in 2023 was performed. The diagnosis was confirmed by detection of specific marker (IgM) in the blood by ELISA. Results and discussion. There were 67 children and 6 adults among those who fell ill. Outpatient treatment was provided to 36 persons, and 37 children were hospitalized. Among the children who contracted measles, 63 children were not immunized against measles, 59 of them due to parents’ refusal to immunize them. In all patients, measles was characterized by typical clinical manifestations. Moderate forms of the disease were detected in 43 children and 6 adults (67.1 %), mild – in 24 (32.9 %) children. Conclusions. A characteristic feature of this disease was the presence of more pronounced symptoms and a longer catarrhal period in older children. Thanks to timely preventive and anti-epidemiological measures, the outbreak was localized and further spread of the infection was prevented. Given the repeated possibility of outbreaks, it is necessary to improve vaccine prevention.
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- 2024
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41. Clinical features of and influencing factors of obsessive-compulsive personality disorder in patients with obsessive-compulsive disorder
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Jiang Wenjing, Wang Xuhui, Xu Zhihan, Zhang Xuedi, Wang Zhongqi, Zhou Ping, and Liu Na
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obsessive-compulsive personality disorder ,obsessive-compulsive disorder ,clinical features ,influencing factors ,Psychology ,BF1-990 ,Psychiatry ,RC435-571 - Abstract
BackgroundObsessive-compulsive personality disorder and obsessive-compulsive disorder (OCD) are common psychological disorders with similar clinical symptoms, but the differences between the two need further clarification.ObjectiveTo explore the clinical features of and influencing factors of obsessive-compulsive personality disorder in patients with OCD, so as to provide references for further relevant clinical diagnosis and treatment.MethodsA total of 195 patients with OCD were selected as the research subjects, who received treatment at the outpatient and inpatient departments of the Affiliated Brain Hospital of Nanjing Medical University from July 2022 to December 2023 and met the diagnostic criteria for OCD in the International Classification of Diseases, tenth edition (ICD-10). Evaluation was conducted by using the Yale-Brown Obsessive Compulsive Scale (Y-BOCS), Personality Diagnostic Questionnaire-4+ (PDQ-4+), Obsessive-Compulsive Inventory-Revised (OCI-R), Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and Sheehan Disability Scale (SDS). In accordance with the score of Obsessive-Compulsive Personality Disorder Scale in PDQ-4+, patients were divided into the OCD group with obsessive-compulsive personality disorder (n=58) and the OCD group without obsessive-compulsive personality disorder (n=137). Pearson correlation analysis and Spearman correlation analysis were adopted to examine the correlation between clinical features and the score of the Obsessive-Compulsive Personality Disorder Scale. Multiple linear regression analysis was used to explore the influencing factors of OCD patients with obsessive-compulsive personality disorder.ResultsStatistically significant differences were observed between OCD patients with and without obsessive-compulsive personality disorder in the age, family history of mental illness, time without treatment, hoarding and ranking dimension scores in OCI-R, OCI-R total score, score of Obsessive-Compulsive Personality Disorder Scale in PDQ-4, and BDI score (P≤0.05). OCD patients with obsessive-compulsive personality disorder in the time without treatment, OCI-R total score, hoarding and ranking dimension scores in OCI-R and BDI score are all positively correlated with the score of the Obsessive-Compulsive Personality Disorder Scale (r=0.120, 0.526, 0.364, 0.492, 0.414, P
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- 2024
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42. Deep learning-based multimodal fusion of the surface ECG and clinical features in prediction of atrial fibrillation recurrence following catheter ablation
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Yue Qiu, Hongcheng Guo, Shixin Wang, Shu Yang, Xiafeng Peng, Dongqin Xiayao, Renjie Chen, Jian Yang, Jiaheng Liu, Mingfang Li, Zhoujun Li, Hongwu Chen, and Minglong Chen
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Deep learning ,Transformer ,Atrial fibrillation recurrence ,Electrocardiogram ,Clinical features ,Pulmonary vein isolation ,Computer applications to medicine. Medical informatics ,R858-859.7 - Abstract
Abstract Background Despite improvement in treatment strategies for atrial fibrillation (AF), a significant proportion of patients still experience recurrence after ablation. This study aims to propose a novel algorithm based on Transformer using surface electrocardiogram (ECG) signals and clinical features can predict AF recurrence. Methods Between October 2018 to December 2021, patients who underwent index radiofrequency ablation for AF with at least one standard 10-second surface ECG during sinus rhythm were enrolled. An end-to-end deep learning framework based on Transformer and a fusion module was used to predict AF recurrence using ECG and clinical features. Model performance was evaluated using areas under the receiver operating characteristic curve (AUROC), sensitivity, specificity, accuracy and F1-score. Results A total of 920 patients (median age 61 [IQR 14] years, 66.3% male) were included. After a median follow-up of 24 months, 253 patients (27.5%) experienced AF recurrence. A single deep learning enabled ECG signals identified AF recurrence with an AUROC of 0.769, sensitivity of 75.5%, specificity of 61.1%, F1 score of 55.6% and overall accuracy of 65.2%. Combining ECG signals and clinical features increased the AUROC to 0.899, sensitivity to 81.1%, specificity to 81.7%, F1 score to 71.7%, and overall accuracy to 81.5%. Conclusions The Transformer algorithm demonstrated excellent performance in predicting AF recurrence. Integrating ECG and clinical features enhanced the models’ performance and may help identify patients at low risk for AF recurrence after index ablation.
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- 2024
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43. Risk Factors and Clinical Features of Peripartum Cardiomyopathy in a Chinese Population
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Huang H, Ye Q, Xu Y, Tao B, Liu J, Xie T, and Zha L
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peripartum cardiomyopathy ,risk factors ,clinical features ,early identification ,Medicine (General) ,R5-920 - Abstract
Hui Huang,1– 3,* Qing Ye,1– 4,* Yulan Xu,1– 3,* Baoming Tao,1– 3 Junlan Liu,1– 3 Tian Xie,1– 3 Lingfeng Zha1– 3 1Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China; 2Hubei Key Laboratory of Biological Targeted Therapy, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China; 3Hubei Provincial Engineering Research Center of Immunological Diagnosis and Therapy for Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China; 4School of Nursing, Wuhan University, Wuhan, People’s Republic of China*These authors contributed equally to this workCorrespondence: Tian Xie; Lingfeng Zha, Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, 430022, People’s Republic of China, Tel +86-15972150162 ; +86-15827177185, Email xietian@hust.edu.cn; zhalf@hust.edu.cnPurpose: We investigated the risk factors and characteristic clinical features of peripartum cardiomyopathy (PPCM) to lay the groundwork for early identification, screening, diagnosis, and intervention in high-risk pregnant women.Patients and methods: A retrospective case-control study was conducted to analyze data from 44 patients with PPCM and 226 normal pregnant women from a Chinese population.Results: Significant differences were found between the groups in terms of various factors such as age, body mass index (BMI), heart rate, and medical history. Logistic regression models identified abnormal electrocardiography (OR=18.852), upper respiratory tract infection (OR=41.822), gestational hypertension (OR=18.188), and cesarean section (OR=8.394) as risk factors for PPCM. Common clinical features observed in patients with PPCM included cough, wheezing, and chest tightness (68.18%), left heart enlargement (56.82%) and valvular insufficiency (81.82%). Additionally, cardiotropic virus was detected in a subset of patients (43.18%) and NT-proBNP was elevated ≥ 400 pg/mL (81.82%).Conclusion: In the Chinese population, the presence of abnormal electrocardiograms during pregnancy, history of upper respiratory tract infection, gestational hypertension, and maternal choice of cesarean section suggest the possibility of PPCM development. Factors such as advanced age, family history of cardiovascular disease, gestational diabetes mellitus, eclampsia, anemia, and hypoproteinemia should be considered. Clinically, patients present with cough, wheezing, chest tightness, enlarged left heart, valvular insufficiency and NT-proBNP elevated ≥ 400 pg/mL. This study could serve as a valuable reference for medical practitioners for the early identification and screening of patients with PPCM.Keywords: peripartum cardiomyopathy, risk factors, clinical features, early identification
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- 2024
44. Analysis of Clinical Features of 13 Cases with Late-Onset Pompe Disease
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JI Fang, HE Fangping, LI Yi, NI Jie, YU Lihua, MENG Fanxia, CHEN Haiyan, and KE Qing
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late-onset pompe disease ,acid alpha-glucosidase ,acid alpha-glucosidase gene ,mutation ,clinical features ,Medicine - Abstract
ObjectiveTo investigate the clinical features and genetic characteristics of patients with late-onset Pompe disease(LOPD).MethodsA total of 13 patients diagnosed with LOPD in the First Affiliated Hospital of Zhejiang University School of Medicine from September 2020 to December 2023 were selected, and all patients were subjected to clinical investigation, GAA activity detection and GAA gene testing.ResultsAmong the 13 patients, 7 were males and 6 were females; 5 were family patients and 8 were sporadic patients; and the median age of onset was 17 years(8-52 years), the median age of presentation was 24 years(10-52 years), and the median age of diagnosis was 31 years(14-58 years). In terms of the first symptoms, 10 patients presented with limb weakness and 3 patients presented with dyspnea. The average serum creatine kinase level was 552 U/L(55-1084 U/L), and the serum creatine kinase level was normal in one patient. All patients had scoliosis and different degrees of restrictive ventilatory dysfunction. Neuroelectrophysiological examinations of 9 patients showed myogenic damage, and 8 of them had muscle tonic discharge. The mean value of GAA activity was 0.3 μmol/(L·h)[0.17-0.5 μmol/(L·h)]. A total of 13 mutations were detected in GAA gene, and the most common mutation was c.2238G > C(p.W746C).There were five new variant sites: c.543del(p.F181Lfs*40), c.839_840insCC(p.R281Pfs*34), c.1800_1823del(p.S601_ R608del), c.2296T > C(p.Y766H) and c.995C > A(p.S332*).ConclusionsLOPD is a rare disease that tends to delay diagnosis. Proximal limb weakness, decreased respiratory function, mild-to-moderate elevation of creatine kinase, scoliosis, and clinical inferior tonic discharge on electromyography are high-risk images of LOPD. c.2238G > C(p.W746C)is a hotspot mutation, and the discovery of five new mutations enriches the GAA gene mutations lineage.
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- 2024
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45. Clinical characteristics and prognostic factor in juvenile dermatomyositis: data of the Spanish registry
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Sonia Carriquí-Arenas, Juan Manuel Mosquera, Estefanía Quesada-Masachs, Mireia López, Daniel Clemente, Alina Boteanu, Clara Udaondo, Jaime de Inocencio, Juan Carlos Nieto, Leyre Riancho, Esmeralda Núñez, Judith Sánchez-Manubens, María José Lirola, Rosa Roldán, Marisol Camacho, Melania Martínez, Marta Medrano, Paula Alcañiz, Jordi Antón, and Estíbaliz Iglesias
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Juvenile dermatomyositis ,Clinical features ,Medical tests ,Prognostic factors ,Pediatrics ,RJ1-570 ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Background Juvenile Dermatomyositis (JDM) is the most common chronic idiopathic inflammatory myopathy in children. The diagnosis is clinical. Baseline laboratory and complementary studies trace the phenotype of these patients. The objective of this study was to describe epidemiological, clinical and laboratory characteristics at diagnosis of JDM patients included in the Spanish JDM registry, as well as to identify prognostic factors on these patients. Methods We retrospectively reviewed clinical features, laboratory tests, and complementary studies at diagnosis of JDM patients included on the Spanish JDM registry. These data were analyzed to assess whether there was a relationship with the development of complications and time to disease inactivity. Results One hundred and sixteen patients from 17 Spanish paediatric rheumatology centres were included, 76 girls (65%). Median age at diagnosis was 7.3 years (Interquartile range (IQR) 4.5–10.2). All patients had pathognomonic skin lesions at the beginning of the disease. Muscle weakness was present in 86.2%. Median Childhood Muscle Assessment Scale was 34 (IQR 22–47). Twelve patients (34%) had dysphagia and 3,5% dysphonia. Anti-p155 was the most frequently detected myositis specific antibody, followed by anti-MDA5. Twenty-nine patients developed calcinosis and 4 presented with macrophage activation syndrome. 70% reached inactivity in a median time of 8.9 months (IQR 4.5–34.8). 41% relapsed after a median time of 14.4 months (IQR 8.6–22.8) of inactivity. Shorter time to treatment was associated with better prognosis (Hazard ratio (HR) = 0.95 per month of evolution, p = 0.02). Heliotrope rash at diagnosis correlates with higher risk of development complications. Conclusions We describe heliotrope rash as a risk factor for developing complications in our cohort of JDM patients, an easy-to-evaluate clinical sign that could help us to identify the group of patients we should monitor closely for this complication.
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- 2024
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46. Obsessive-Compulsive Disorder Related Disorders: Hypochondriasis, Hoarding Disorder, Olfactory Reference Disorder, Body Dysmorphic Disorder, Trichotillomania, Excoriation Disorder
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Phillips, Katharine A., Rodriguez, Carolyn I., Harding, Kelli J., Fallon, Brian A., Stein, Dan J., Ng, Chee H., Section editor, Lecic-Tosevski, Dusica, Section editor, Alfonso, César A., Section editor, Salloum, Ihsan M., Section editor, Tasman, Allan, editor, Riba, Michelle B., editor, Alarcón, Renato D., editor, Alfonso, César A., editor, Kanba, Shigenobu, editor, Lecic-Tosevski, Dusica, editor, Ndetei, David M., editor, Ng, Chee H., editor, and Schulze, Thomas G., editor
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- 2024
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47. Uveal Melanoma
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Ortiz-Urda, Susana, Ho, Wilson, Lee, Albert, Ortiz-Urda, Susana, Ho, Wilson, and Lee, Albert
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- 2024
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48. Ring Chromosome 13
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Li, Peining, Chong, Mei Ling, Li, Peining, editor, and Liehr, Thomas, editor
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- 2024
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49. Ring Chromosome 9
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Szekely, Anna M., Li, Peining, Li, Peining, editor, and Liehr, Thomas, editor
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- 2024
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50. Assessment of Dhat Syndrome: Clinical to Behavioral
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Grover, Sandeep, Kar, Sujita Kumar, editor, Arafat, S. M. Yasir, editor, and Menon, Vikas, editor
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- 2024
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