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Cancer survival estimation is essential for post-cancer patient care, cancer management policy building, and the development of tailored treatment plans. Existing survival estimation methods use censored data; therefore, standard machine learning methods can not be used directly. Some censoring-based semi-machine learning methods have recently been proposed; however, these methods pose challenges. They are less patient-specific and non-linear. Furthermore, they rely on single-modality features. These drawbacks result in lower survival estimation performance. To address these issues, this work proposes a framework named Deep-SEA. Compared to the state-of-the-art, Deep-SEA uses multi-modality features, i.e., clinical, radiology, and histology features. These features are analyzed with statistical methods, and only significant features are selected. Then, the baseline hazard of the Cox model is estimated using Breslow's estimator, which is optimized using stochastic gradient descent. Finally, the risk function, i.e., the parameters of our model, are estimated via an ANN with time as additional input. ANN makes it non-linear while training on the patient-specific features makes it more patient-specific than the state-of-the-art. We train and evaluate Deep-SEA on five datasets, including head, neck, and colorectal-liver cancer. We have achieved a Concordance-index (C-index) score of 0.7181, the highest compared to the state-of-the-art. Results and ablation studies on Deep-SEA suggest that the proposed method improves cancer survival estimation and can be applied to other estimations, such as cancer recurrence estimation. [ABSTRACT FROM AUTHOR]

Objective: Hepatitis B virus (HBV) infection is associated with the incidence and prognosis of diffuse large B-cell lymphoma (DLBCL), and previous studies differ in terms of clinical characteristics and prognostic factors. In this study, we explored the clinical features and prognostic characteristics of real-world DLBCL patients infected with HBV. Methods: Patients with pathologically diagnosed primary DLBCL at West China Hospital of Sichuan University were enrolled. Patients with follicular lymphoma-transformed DLBCL, primary central nervous system DLBCL, and hepatitis C virus, hepatitis E virus, human immunodeficiency virus, or syphilis infections were excluded. Ultimately, a total of 941 patients were included in this study. All patients included in the study underwent HBV serum marker testing before treatment. The demographic features, clinical characteristics and treatments of patients with different HBV infection states were collected and analyzed comprehensively to identify prognostic factors for OS and PFS. Results: Statistical analysis of the data revealed that hepatitis B surface antigen positive (HBsAg +) DLBCL patients were younger and more likely to present with advanced disease, germinal center B cell-like subtype, B symptoms and splenic involvement. There were no significant differences in OS or PFS among patients with different HBV infection statuses (χ 2 = 0.139, P = 0.933; χ2 = 0.787, P = 0.675); R-CHOP/R-CHOP-like regimens improved prognosis in HBsAg + DLBCL patients (OS: χ2 = 7.679, P = 0.006; PFS: χ2 = 9.042, P = 0.003); antiviral prophylaxis for HBsAg + DLBCL patients improved OS and PFS (HR: 0.336, P = 0.012, 95% CI [0.143, 0.788]; HR: 0.397, P = 0.032, 95% CI [0.171, 0.925]), with tenofovir treatment being particularly effective (χ2 = 4.644, P = 0.031; χ2 = 4.554, P = 0.033). Conclusions: HBsAg + DLBCL patients have unique clinical characteristics, and the use of CD20 monoclonal antibody based regimens significantly improves the outcome and prognosis of patients with HBsAg + DLBCL. Anti-HBV therapy, especially tenofovir, improves the prognosis of DLBCL patients with HBV presenting infection. Timely and sustained antiviral prophylaxis should be the standard strategy for treating DLBCL patients with HBV infection to optimize the efficacy of chemotherapy and immunotherapy. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to investigate the risk factors for lymph node metastasis (LNM) in synchronous multiple primary lung cancer (sMPLC) using clinical and CT features, and to offer guidance for preoperative LNM prediction and lymph node (LN) resection strategy. Materials and methods: A retrospective analysis was conducted on the clinical data and CT features of patients diagnosed with sMPLC at the Third Affiliated Hospital of Kunming Medical University from January 1, 2018 to December 31, 2022. Patients were classified into two groups: the LNM group and the non-LNM (n-LNM) group. The study utilized univariate analysis to examine the disparities in clinical data and CT features between the two groups. Additionally, multivariate analysis was employed to discover the independent risk variables for LNM. The diagnostic efficacy of various parameters was evaluated using the receiver operating characteristic (ROC) curve. Results: Among the 688 patients included in this study, 59 exhibited LNM. Univariate analysis revealed significant differences between the LNM and n-LNM groups in terms of gender, smoking history, CYFRA21-1 level, CEA level, NSE level, lesion type, total lesion diameter, main lesion diameter, spiculation sign, lobulation sign, cavity sign, and pleural traction sign. Logistic regression identified CEA level (OR = 1.042, 95%CI: 1.009-1.075), lesion type (OR = 9.683, 95%CI: 3.485-26.902), and main lesion diameter (OR = 1.677, 95%CI: 1.347-2.089) as independent predictors of LNM. The regression equation for the joint prediction was as follows: logit(p)= -7.569+0.041*CEA level +2.270* lesion type +0.517* main lesion diameter.ROC curve analysis showed that the AUC for CEA level was 0.765 (95% CI, 0.694–0.836), for lesion type was 0.794 (95% CI, 0.751–0.838), for main lesion diameter was 0.830 (95% CI, 0.784–0.875), and for the combine predict model was 0.895 (95% CI, 0.863–0.928). Conclusion: The combination of clinical and imaging features can better predict the status of LNM of sMPLC, and the prediction efficiency is significantly higher than that of each factor alone, and can provide a basis for lymph node management decision. [ABSTRACT FROM AUTHOR]

Objective: This study aims to present a case of persistent mycetoma caused by Scedosporium boydii and undertake a systematic literature overview to elucidate the clinical characteristics and antifungal treatment exhibited by such patients. Methods: We report the case of a 24-year-old female who sustained a Scedosporium boydii infection in her right foot over a decade ago following a nail puncture. Concurrently, a comprehensive literature overview was conducted on PubMed, focusing on documented cases of Scedosporium boydii infections with the intent of extracting relevant clinical data. Results: Our analysis revealed that post-transplantation, trauma, near drowning, corticosteroid administration, and prior surgical history were the main risk factors for Scedosporium boydii infection. Prevalent infection sites included skin/bone tissues, the central nervous system, and ocular regions. Among the 49 patients identified, 24 received itraconazole therapy and 25 received voriconazole, with no significant difference in patient outcomes (P = 0.158). Of these, 12 patients experienced treatment failure. Notably, prolonged antifungal treatment duration was identified as a protective factor against mortality in Scedosporium boydii infections [P = 0.022, OR(95%CI): 0.972(0.949–0.996)]. Conversely, a history of post-transplantation emerged as a potential risk factor for mortality[P = 0.046, OR(95%CI): 7.017(1.034–47.636)]. Conclusion: While uncommon, Scedosporium boydii infections carry a significant burden of morbidity and adverse outcomes. Heightened clinical vigilance is warranted in individuals presenting with risk factors for this pathogen. Timely and effective antifungal intervention is crucial, with both voriconazole and itraconazole demonstrating positive treatment outcomes for Scedosporium boydii infection. Therefore, prioritizing these antifungal agents should be considered a key therapeutic strategy in the management of this patient population. [ABSTRACT FROM AUTHOR]

Dystrophic calcinosis, which is the accumulation of insoluble calcified crystalline materials within tissues with normal circulating calcium and phosphorus levels, is a frequent finding in systemic sclerosis (SSc) and represents a major burden for patients. In SSc, calcinosis poses significant challenges in management due to the associated risk of severe complications such as infection, ulceration, pain, reduction in functional capacity and quality of life, and lack of standardized treatment choices. The exact pathogenesis of calcinosis is still unknown. There are multifaceted factors contributing to calcinosis development, including osteogenic differentiation of cells, imbalance between promoter and inhibitors of mineralization, local disturbance in calcium and phosphate levels, and extracellular matrix as a template for mineralization. Several pathophysiological changes observed in SSc such as ischemia, exacerbated production of excessive reactive oxygen species, inflammation, production of inflammatory cytokines, acroosteolysis, and increased extracellular matrix production may promote the development of calcinosis in SSc. Furthermore, mitochondrial dynamics, particularly fission function through the activity of dynamin-related protein-1, may have an effect on the dystrophic calcinosis process. In-depth investigations of cellular mechanisms and microenvironmental influences can offer valuable insights into the complex pathogenesis of calcinosis in SSc, providing potential targeting pathways for calcinosis treatment. [ABSTRACT FROM AUTHOR]

Background: Though the survival of breast cancer (BC) patients with malignant pleural effusion (MPE) has been studied, this has not been specifically studied in the luminal B subtype. Therefore, this study investigated the characteristics and survival of luminal B-BC patients presenting with MPE. Methods: We retrospectively analyzed 141 patients diagnosed with postoperative advanced Luminal B breast cancer, including 54 cases with MPE and 87 cases without MPE at the Tianjin Cancer Hospital from January 2012 to January 2015. We assessed the clinical characteristics between the groups. Results: The mean age of all patients was 47 years, with no significant difference between the two groups. Altogether, 29 (33%), 24 (28%), 28 (32%), 45 (52%), and 10 (11%) patients had lung, liver, bone, lymph node, and chest wall metastases, respectively. In addition. The difference in overall survival between the two groups was not significant (P>0.05). However, cox regression analysis showed that only the tumor clinical stage at initial diagnosis was related to short overall survival. Further, we conducted a subgroup analysis and found that the higher the clinical stage at initial diagnosis in age < 50 years patients, the shorter the overall survival, while age > 50 years patients was not. (P < 0.05). Conclusions: There was no difference in the overall survival between luminal B-BC patients with MPE and those without. Clinical stages at initial diagnosis were an independent prognostic factor for age < 50 years luminal B BC with MPE overall survival. Our results may help clinicians make positive decisions regarding personalized treatment of luminal B-BC with MPE. [ABSTRACT FROM AUTHOR]

Objective: This study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population. Methods: Expanding on the results of a prior single-center observational study involving 60 systemic lupus erythematosus patients, a subsequent single-center prospective observational study was conducted on SLE patients undergoing treatment at Nanfang Hospital Affiliated to Southern Medical University from 2021 to 2023. The identification process for drug-related target genes entailed an extensive search across PharmGKB (https://www.pharmgkb.org/), the Clinical Pharmacogenetics Implementation Consortium (CPIC),and PubMed literature databases, to pinpoint common drugs and target single nucleotide polymorphisms(SNPs)for SLE. Blood samples were individually collected and genotyped using MassARRAY® high-throughput nucleic acid mass spectrometry. Genotype frequency differences were assessed through Chi-square tests against both the larger East Asian population as well as kidney transplant recipients. Data collection relied on electronic medical records, encompassing demographic details(age, gender),medication regimens(hormones, NSAIDs, hydroxychloroquine, DMARDs, biologic agents, stomach medications, calcitriol, etc.),laboratory indicators(RF, Anti-CCP antibody, ESR, CRP, anti-ANA antibodies, dsDNA antibodies, anti-SM antibodies, S m. RNP antibodies, A LT, ALB, CR, UA, WBC, PLT, HGB, Ca, K, Glu, CHOL, TG, LDL-C, HDL-C) and lupus activity scores(SLEDAI-2K). Possible disease susceptibility genes were categorized, and SPSS26 software facilitated statistical analyses. Results: The research encompassed a total of 137 SLE patients along with 50 SNPs. After conducting statistical analyses, it emerged that there existed significant disparities in CYP2D6 gene (rs1065852) distribution when compared against allele mutation rates within both East Asian populations (p <.05) and kidney transplant patients(p <.05). Wild-type gene (GG) constituted 14% of cases while mutant gene (GA + AA) constituted 86%. Allele mutation rate (A63.6%) was significantly higher among SLE patients (RR = 0.802; p =.0355). Furthermore, the variant rs1065852 genotype (GA + AA) demonstrated significant associations with lower CRP levels, higher HGB levels, and higher HDL-C levels (p < 0 0.05). Conclusion: The metabolic enzyme CYP2D6 may be used as susceptibility gene for predicting systemic lupus erythematosus and are correlated with CRP and other indicators. [ABSTRACT FROM AUTHOR]

Background: Congenital syphilis (CS) is a sexually transmitted disease caused by Treponema pallidum (TP). When the skeletal system is involved, it often results in multiple, symmetrical bone destruction at the epiphyses of long tubular bones such as the humerus and radius, rarely involving the calcaneus. This article reports a case of calcaneal osteomyelitis caused by TP in a child with no other bone damage and subtle clinical manifestations, No similar cases have been reported. Case presentation: A 4-month-old male infant presented with right foot swelling without any obvious cause and no history of trauma. X-ray and CT scans showed bone loss in the calcaneus and surrounding soft tissue swelling. Review of past medical records revealed that the infant had been diagnosed with CS infection during a hospital stay for “pneumonia” at one month old. The parents refused surgery, opting for conservative treatment at an external hospital for three weeks, during which the symptoms of the affected foot showed no significant improvement. Subsequently, the child was treated at our hospital with surgery, including lesion removal and cast fixation, followed by oral antibiotic treatment. The last follow-up showed no swelling or tenderness in the affected foot, with good mobility, and X-rays indicated that the bone had essentially returned to normal. Conclusions: Early CS rarely involves the calcaneus. When diagnosing unexplained calcaneal osteomyelitis in infants, this rare cause should be considered. A thorough medical history should be taken and a careful physical examination conducted. Once diagnosed, timely surgical debridement and appropriate antibiotic therapy targeting TP infection are required. Early identification and intervention can result in a good prognosis without related complications. [ABSTRACT FROM AUTHOR]

Background: Atrial fibrillation (AF) has emerged as a notable public health issue in China due to the aging population and rapid urbanization. This study aimed to describe the characteristics of patients with AF (paroxysmal and nonparoxysmal) and investigate the association between left ventricular ejection fraction (LVEF) levels and AF subtypes to facilitate early prevention in patients with AF. Method: Patients with AF who presented at the cardiology department of the First People's Hospital of Yancheng were recruited in this study. In univariate and multivariate logistic regression analyses, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to evaluate the relationships between each dependent variable and nonparoxysmal AF. The restricted cubic splines (RCS) curve was employed to explore the linear relationship between LVEF and nonparoxysmal AF on a continuous scale. Subgroup analysis was applied to examine the stability of the results. Results: The study included a total of 2054 patients who were diagnosed with AF. 652 (31.74%) patients had paroxysmal AF, and 1402 (68.26%) had nonparoxysmal AF. Multivariate logistic regression analyses indicated that compared to those with paroxysmal AF, patients with nonparoxysmal AF tended to have a higher prevalence of coronary artery disease, lower levels of LVEF, and an elevated heart rate. Additionally, RCS curves also showed that LVEF was negatively and linearly associated with the nonparoxysmal AF. Furthermore, the association between LVEF and nonparoxysmal AF was stronger among patients with hypertension and obesity (P for interaction < 0.05). Conclusions: Patients with nonparoxysmal AF have a more advanced AF burden and the transition from paroxysmal to nonparoxysmal AF should be recognized in time, especially to treat the corresponding comorbidities (including hypertension and obesity) more consistently. [ABSTRACT FROM AUTHOR]

Objective: Behçet's syndrome (BS) is a variant vessel vasculitis that can involve multiple organs, with highly heterogeneous clinical manifestations. This study aims to analyze baseline data of BS patients to enhance the comprehension of its clinical features. Methods: This study included 1216 registered cases of BS patients referred to Huadong Hospital affiliated with Fudan University. Each patient was thoroughly assessed and recorded for demographic data, clinical manifestations, gastrointestinal endoscope, imaging, etc. Results: Significant gender differences were observed in clinical manifestations. Pseudofolliculitis (p <.001), uveitis (p =.003), vascular (p <.001), and cardiovascular involvement (p <.001) were significantly more prevalent in male BS patients, while genital ulcers (p =.011) and erythema nodosum (p =.009) were more common among the female. Furthermore, pseudofolliculitis (44.3%, 37.4% vs. 25.0%, p <.001), pathergy test positivity (37.0%, 24.5% vs. 12.6%, p <.001), and uveitis (18.8%, 18.4% vs. 11.2%, p <.001) showed higher incidence rates in the 16–35 years age group. Vascular involvement (11.1%, 18.0% vs. 15.8%, p <.001) notably increased in the 36–50 years age group. Additionally, the ISG diagnostic criteria were more likely to be met in the 16–35 age group (OR: 2.039, 95% CI: 1.581–2.631, p <.001), whereas the ICBD criteria were less likely to be met in the 16–35 age group (OR: 0.266, 95% CI: 0.150–0.474, p <.001). Conclusions: This study provided data on the baseline of clinical features of BS in a single center, BS patients presented significant heterogeneity, showing different manifestations across various genders and age groups. This diversity might contribute to a better understanding of BS clinical features and pave the way for future multi‐center studies. [ABSTRACT FROM AUTHOR]

Background: Atopic dermatitis (AD) is a chronic inflammatory skin condition characterized by intense itching and various clinical manifestations. It predominantly affects young children and is linked to elevated levels of IgE. Despite extensive research, the exact etiology remains unclear, though genetic and environmental factors are believed to play significant roles. Methods: This descriptive study was conducted at Nalanda Medical College and Hospital, Patna, over an 18-month period from December 2019 to May 2021. A total of 83 patients up to 16 years old, diagnosed with AD according to Hanifin and Rajka's criteria, were included. Ethical clearance was obtained, and informed consent was secured from guardians. Patients were assessed for demographic characteristics, clinical features, and aggravating factors using structured case record forms. Data analysis focused on age distribution, duration of AD, aggravating factors, personal and family history, and clinical features. Results: The study involved 83 patients with a mean age of 2-12 years. The mean duration of AD was 1.24 years. The condition often aggravated in winter. Key aggravating factors included photo aggravation (24.1%) and mosquito/mite exposure (15.7%). A significant proportion of patients experienced pruritus (91.6%) and lesions on extensors (65.1%). Family history of atopy was uncommon, with 71.1% having no family history. Facial erythema was present in 33.7% of patients, and 21.7% had scalp scaling. Conclusion: This study highlights the diverse clinical manifestations and demographic characteristics of AD in a specific population. The findings reveal a predominance of younger patients, common involvement of extensor surfaces, and frequent pruritus. Seasonal aggravation, particularly in winter, and specific aggravating factors like photo exposure and mosquito bites were noted. The lack of significant family history suggests a need for further research into the genetic and environmental interplay in AD. These insights underscore the importance of personalized management strategies for effective treatment. [ABSTRACT FROM AUTHOR]

Objective: The objective of the study was to explore the presentation of symptoms in patients suffering from treatment-resistant mood disorder (TRMD), and associated clinical features, including age, gender, and comorbid conditions, that lead towards the development of treatment-resistant mood disorder. Furthermore, the study analyses the available psychotherapeutic treatment modalities and evidence-based non-medical treatment approaches for TRMD. Method: The current study utilized a systematic review approach where 37 articles were studied and three articles were theoretically sampled to authenticate and signify the findings. PRISMA guidelines were followed and the review was conducted by searching social sciences databases and electronic libraries including Google Scholar, Sage Journal, and Science Direct (1990-2020). Results: The results suggested that psychotherapeutic interventions including cognitive behavior therapy, mindfulbased cognitive therapy; and interpersonal and social rhythm therapeutic interventions are efficacious modalities for treatment when in augmentation with psychopharmacological treatment. Bipolar diathesis and comorbid conditions of anxiety and personality disorders are possible causal factors in developing the condition of treatment resistance in mood disorders. The prevalence rate of TRMD is more common in females and in late adulthood. The analysis also suggests that there are numerous risk factors contributing to making a mood disorder treatment-resistant over a period of time; the most observed conditions were physical and psychological comorbidity, inaccurate diagnosis, lack of proper medical treatment, illness severity, and late age diagnosis. In evidence-based non-medical treatment approaches aerobics demonstrated promising results in improving the condition of complex mood disorders. Conclusion: It was concluded that psychotherapeutic interventions in augmentation with pharmacological modalities enhance the efficacy of treatment. [ABSTRACT FROM AUTHOR]

Polycystic Ovarian Disease or Polycystic Ovary Syndrome (PCOS) is becoming increasingly communal among women, owing to poor lifestyle choices. According to the research conducted by National Institutes of Health, it has been observe that PCOS, an endocrine condition common in women of childbearing age, has become a significant contributing factor to infertility. Ovarian abnormalities brought on by PCOS carry a high risk of miscarriage, infertility, cardiac problems, diabetes, uterine cancer, etc. Ovarian cysts, obesity, menstrual irregularities, elevated amounts of male hormones, acne vulgaris, hair loss, and hirsutism are some of the symptoms of PCOS. It is not easy to determine PCOS because of its different combinations of symptoms in different women and various criteria needed for diagnosis. Taking biochemical tests and ovary scanning is a time-consuming process and the financial expenses have become a hardship to the patients. Thus, early prognosis of PCOS is crucial to avoid infertility. The goal of the proposed work is to analyse PCOS symptoms based on clinical data for early diagnosis and to classify into PCOS affected or not. To achieve this objective, clinical features dataset and ultrasound imaging dataset from Kaggle is utilized. Initially 541 instances of 45 clinical features such as testosterone, hirsutism, family history, BMI, fast food, menstrual disorder, risk etc. are considered and correlation-based feature extraction method is applied to this dataset which results in 17 features. The extracted features are applied to various machine learning algorithms such as Logistic Regression, Naïve Bayes and Support Vector Machine. The performance of each method is evaluated based on accuracy, precision, recall, F1-score and the result shows that among three models, Support Vector Machine model achieved high accuracy of 94.44%. In addition to this, 3856 ultrasound images are analysed by CNN based deep learning algorithm and VGG16 transfer learning algorithm. The performance of these models is evaluated using training accuracy, loss and validation accuracy, loss and the result depicts that VGG16 outperforms than CNN model with validation accuracy of 98.29%. [ABSTRACT FROM AUTHOR]

The use of artificial intelligence (AI) in high-resolution computed tomography (HRCT) for diagnosing systemic sclerosis-associated interstitial lung disease (SSc-ILD) is relatively limited. This study aimed to analyse lung HRCT images of patients with systemic sclerosis with interstitial lung disease (SSc-ILD) using artificial intelligence (AI), conduct correlation analysis with clinical manifestations and prognosis, and explore the features and prognosis of SSc-ILD. Overall, 72 lung HRCT images and clinical data of 58 patients with SSC-ILD were collected. ILD lesion type, location, and volume on HRCT images were identified and evaluated using AI. The imaging characteristics of diffuse SSC (dSSc)-ILD and limited SSc-ILD (lSSc-ILD) were statistically analysed. Furthermore, the correlations between lesion type, clinical indicators, and prognosis were investigated. dSSc and lSSc were more prevalent in patients with a disease duration of < 1 and ≥ 5 years, respectively. SSc-ILD mainly comprises non-specific interstitial pneumonia (NSIP), usual interstitial pneumonia (UIP), and unclassifiable idiopathic interstitial pneumonia. HRCT reveals various lesion types in the early stages of the disease, with an increase in the number of lesion types as the disease progresses. Lesions appearing as grid, ground-glass, and nodular shadows were dispersed throughout both lungs, while those appearing as consolidation shadows and honeycomb were distributed across the lungs. Ground-glass opacity lesion type was absent on HRCT images of patients with SSc-ILD and pulmonary hypertension. This study showed that AI can efficiently analyse imaging characteristics of SSc-ILD, demonstrating its potential to learn from complex images with high generalisation ability. [ABSTRACT FROM AUTHOR]

Objective: Triple-negative breast cancer (TNBC) has an aggressive clinical behaviour, with advanced stages at initial diagnostic evaluation, early recurrences and poor survival, so the purpose was to determine the clinical and radiological manifestations associated with TNBC. Materials and methods: A case-control study in women diagnosed with breast cancer from January 2015 to August 2022 at the 'Instituto Regional de Enfermedades Neoplásicas del Norte'. We classified cases (Triple Negative subtype) and controls (Luminal A, Luminal B and HER2) according to immunohistochemistry ical analysis. Bivariate and multivariate logistic regression models were used to calculate the odds ratio (OR) with their respective 95% confidence intervals (CIs). Results: The medical reports of 88 cases and 236 controls were reviewed. Cases were more likely to report pain (p = 0.001), nodules on ultrasound (p = 0.01) and mammography (p = 0.003), superior median size (p < 0.05), posterior enhancement (p = 0.001) and moderate density (p = 0.003). Multivariate analysis identified that TNBC was more likely to have a nodular type lesion by ultrasound (OR: 9.73, 95% CI: 1.10--86.16; p = 0.04), ultrasound lesion larger than 36 mm (OR: 4.99, 95% CI: 1.75-14.17; p = 0.003) and moderate density (OR: 3.83, 95% CI: 1.44-10.14; p = 0.007). Conclusion: There are particular clinical and imaging manifestations of TNBC, showing that radiological lesions that presented characteristics in ultrasound as nodular type lesions larger than 36 mm and in mammography moderate grade density, were associated with this subtype of breast tumours in a Peruvian population. [ABSTRACT FROM AUTHOR]

Objective This study aims to analyze the clinical, pathological and dermoscopic of lichen planus (LP) patients from Jiangsu Provincial Hospital of Traditional Chinese Medicine. Methods A comprehensive analysis of clinical pathology data of 82 LP patients and dermoscopic images of 103 LP patients from January 2011 to February 2024 was conducted. Results Among the 185 LP patients, 70 were male and 115 were female, the ratio of male to female was 1-1.64. Ages ranged from 7 to 82 years, with a mean age was 45.34 ± 16.46 years. The clinical manifestations were diverse, presenting as generalized or localized eruptions, the primary affected areas on the limbs in 93 cases (50. 21%). The lesions primarily manifested as papules or plaques in 142 cases (76.76%). Histopathological examination mainly showed liquefaction degeneration of the basal layer and band-like infiltration of lymphocytes in the superficial dermis, present in 82 cases (100.00%) and 76 cases (92.68%), respectively. The concordance rate between clinical and pathological diagnoses was 62. 20%. Reflectance confocal microscopy images showed liquefaction degeneration of the basal layer in 65 cases (100. 00%) and pigment-laden macrophages and inflammatory cell infiltration in the dermal papillae in 60 cases (92. 31%). Dermoscopy examination observed Wickham striae in 32 cases (84.21%). Conclusion Site involvement, coloration of lesions, Wickham's striae, and lesion arrangement are pivotal diagnostic indicators for LP. Dermoscopy aids in detecting Wickham's striae, while reflectance confocal microscopy emerges as a crucial screening modality. Histopathological examination remains integral for definitive diagnosis. [ABSTRACT FROM AUTHOR]

This study aimed to assess the impact of COVID‐19 on the prevalence of adenovirus (AdV) infection in children. This study retrospectively analyzed the changes in the epidemiological and clinical features of AdV‐associated respiratory infections in children in Hangzhou, China, between January 2019 and July 2024. A total of 771 316 samples were included in the study, and the positive rate was 6.10% (47 050/771 316). Among them, the positive rate of AdV infection was highest in 2019, reaching 11.29% (26 929/238 333), while the positive rates in the remaining years were between 2% and 9%. In terms of seasonal epidemic characteristics, the summer of 2019 was the peak of AdV incidence, with the positive rate peaking at around 16.95% (7275/45 268), followed by a gradual decline and a low‐level epidemic in winter, with a positive rate of 8.79% (8094/92 060). However, during the period 2020−2024, the AdV epidemic season did not show any significant regularity. Gender analysis revealed that the positive rate of male patients was generally greater than that of female patients. In different age groups, the population susceptible to AdV changed before and after the epidemic. In the early and middle stages of the COVID‐19 epidemic, the susceptible population was mainly 2−5 years old, whereas in the later stages of the epidemic, the susceptible population was 5−18 years old. In addition, the main clinical symptoms of AdV‐positive children from 2019−2024 were respiratory tract symptoms and fever. In summary, the COVID‐19 epidemic has had a certain impact on the prevalence of AdV. These findings provide an important basis and reference for the prevention and diagnosis of AdV, especially in the context of increasing age‐ and gender‐specific public health strategies. [ABSTRACT FROM AUTHOR]

Background: Renal hypokalemia is associated with mutation. This study aimed to investigate the clinical features and pathogenic mutations in patients with renal hypokalemia. Methods: The patients with hypokalemia were enrolled, and the renal function, thyroid function, renin-aldosterone system, urinary potassium excretion, and exome sequencing were performed. The correlation between the clinical phenotypes and causative genes was assessed. Results: Five patients with hypokalemia were enrolled and diagnosed as tubular hypokalemia. The patients with common clinical manifestations were difficult to differentiate based on atypical laboratory findings. The results of the genetic analysis were as follows: both patient 1 and patient 2 were heterozygous for the c.C625T mutation of the KCNJ1 gene, which is responsible for Bartter syndrome. Patient 3 was heterozygous for the c.G298A mutation of the ATP6V1B1 gene, which is responsible for renal tubular acidosis. Patient 4 had a compound heterozygous mutation of c.G893A of the BSND gene, responsible for Bartter syndrome, and c.1029+5G>A, the ATP6V0A4 gene responsible for distal renal tubular acidosis. Patient 5 had Gitelman syndrome and carried the compound heterozygous mutations c.C1963T and c.G2029A of the SLC12A3 gene. All the above loci were known heterozygous mutations. Conclusions: The unusual heterozygous mutations were identified in five renal hypokalemia patients. Molecular diagnosis of tubular hypokalemia was conducive to accurate diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to compare clinical features, laboratory findings, and immunotherapy responses between antibody-positive and antibodynegative Autoimmune encephalitis (AE) patients. Methods: A retrospective analysis of clinical data from 60 AE patients (33 antibody-positive, 27 antibody-negative) diagnosed at Zhongshan Hospital of Xiamen University between January 1, 2016, and March 1, 2024 was conducted. Disease severity and treatment response were assessed using the modified Rankin Scale (mRS) and the Clinical Assessment Scale for Autoimmune Encephalitis (CASE). Results: Antibody-positive AE patients more frequently presented with multiple symptoms (≥4 symptoms: 39.4% vs. 14.8%, p = 0.036). They demonstrated significantly elevated serum IgG concentrations (p = 0.010) and cerebrospinal fluid (CSF) leukocyte counts (p = 0.014). Conversely, antibody-negative AE patients presented with higher CSF total protein levels (p = 0.025) and albumin quotients (p = 0.018), indicative of more severe blood-brain barrier disruption. Antibody-positive AE patients more frequently received combination first-line immunotherapy (75.8% vs. 48.1%, p = 0.027) and exhibited superior treatment outcomes (90.9% vs. 70%, p = 0.022). Among critically ill patients (peak mRS score: 4-5), improvement in CASE scores was markedly greater in the antibodypositive cohort (median: 4.50 vs. 1.00, p = 0.024). Conclusion: Antibody-positive AE patients manifested a more diverse symptom spectrum, elevated serum IgG concentrations and CSF leukocyte counts, and superior responses to immunotherapy. In contrast, antibody-negative AE patients demonstrated more severe blood-brain barrier dysfunction, as evidenced by higher CSF total protein concentrations and albumin quotients. [ABSTRACT FROM AUTHOR]

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]

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]

Objective: The aim of this study is to assess the impact of extrathyroidal autoimmune diseases (ADs) on the clinical characteristics and efficacy of iodine‐131 (131I) therapy in patients with differentiated thyroid cancer (DTC). Methods: Patients with DTC who were received 131I therapy simultaneously were classified into the combination group (n = 35) and noncombination group (n = 146) depending on the presence of ADs. The clinical characteristics, such as gender, age, tumor lesions, lymph node metastasis, distant metastasis, 131I therapy efficacy, and use of levothyroxine, were compared between the two groups. Statistical analysis was conducted using SPSS 26.0 and R 4.0.3. Results: There was a statistically significant difference in age between the combination and noncombination groups (t = −2.872, p <.01), and the optimal cutoff value was 50.5 years. Propensity score matching was completed effectively on a total of 121 patients, using age as the matching factor, comprising 32 cases in the combination group and 80 cases in the noncombination group. The baseline demographic features of the two groups were equivalent after matching (p >.05), and there was no significant difference in the therapeutic efficacy of 131I between the two groups (p >.05). In the subgroup analysis involving patients aged great than 50.5 years, the levothyroxine/weight (µg/kg) was increased in the combination group, and the difference was statistically significant (p <.05). Conclusion: While extrathyroidal ADs may enhance the detection of DTC among elderly women, they have no impact on the clinical characteristics of thyroid cancer or the efficacy of 131I therapy. ADs may necessitate higher per‐unit dosages of levothyroxine in patients with DTC, regardless of the clinical status. Consequently, it is not essential for nuclear medicine physicians to consider the presence of ADs when designing treatment plans for patients with DTC. [ABSTRACT FROM AUTHOR]

Activating FLT3 mutations plays a crucial role in leukemogenesis, but identifying the optimal candidates for FLT3 inhibitor therapy remains controversial. This study aims to explore the impacts of FLT3 mutations in pediatric acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) and to compare the mutation profiles between the two types to inspire the targeted application of FLT3 inhibitors. We retrospectively analyzed 243 ALL and 62 AML cases, grouping them into FLT3-mutant and wild-type categories, respectively. We then assessed the associations between FLT3 mutations and the clinical manifestations, genetic characteristics, and prognosis in ALL and AML. Additionally, we compared the distinct features of FLT3 mutations between ALL and AML. In ALL patients, those with FLT3 mutations predominantly exhibited hyperdiploidy (48.6% vs. 14.9%, p < 0.001) and higher FLT3 expression (108.02 [85.11, 142.06] FPKM vs. 23.11 [9.16, 59.14] FPKM, p < 0.001), but lower expression of signaling pathway-related genes such as HRAS, PIK3R3, BAD, MAP2K2, MAPK3, and STAT5A compared to FLT3 wild-type patients. There was no significant difference in prognosis between the two groups. In contrast, AML patients with FLT3 mutations were primarily associated with leucocytosis (82.90 [47.05, 189.76] G/L vs. 20.36 [8.90, 55.39] G/L, p = 0.001), NUP98 rearrangements (30% vs. 4.8%, p = 0.018), elevated FLT3 expression (74.77 [54.31, 109.46] FPKM vs. 34.56 [20.98, 48.28] FPKM, p < 0.001), and upregulated signaling pathway genes including PIK3CB, AKT1, MTOR, BRAF, and MAPK1 relative to FLT3 wild-type, correlating with poor prognosis. Notably, internal tandem duplications were the predominant type of FLT3 mutation in AML (66.7%) with higher inserted base counts, whereas they were almost absent in ALL (6.3%, p < 0.001). In summary, our study demonstrated that the forms and impacts of FLT3 mutations in ALL differed significantly from those in AML. The gene expression profiles of FLT3-related pathways may provide a rationale for using FLT3 inhibitors in AML rather than ALL when FLT3 mutations are present. [ABSTRACT FROM AUTHOR]

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]

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]

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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Background: 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. [ABSTRACT FROM AUTHOR]

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]

Abstract Purpose This study aims to investigate the risk factors for lymph node metastasis (LNM) in synchronous multiple primary lung cancer (sMPLC) using clinical and CT features, and to offer guidance for preoperative LNM prediction and lymph node (LN) resection strategy. Materials and methods A retrospective analysis was conducted on the clinical data and CT features of patients diagnosed with sMPLC at the Third Affiliated Hospital of Kunming Medical University from January 1, 2018 to December 31, 2022. Patients were classified into two groups: the LNM group and the non-LNM (n-LNM) group. The study utilized univariate analysis to examine the disparities in clinical data and CT features between the two groups. Additionally, multivariate analysis was employed to discover the independent risk variables for LNM. The diagnostic efficacy of various parameters was evaluated using the receiver operating characteristic (ROC) curve. Results Among the 688 patients included in this study, 59 exhibited LNM. Univariate analysis revealed significant differences between the LNM and n-LNM groups in terms of gender, smoking history, CYFRA21-1 level, CEA level, NSE level, lesion type, total lesion diameter, main lesion diameter, spiculation sign, lobulation sign, cavity sign, and pleural traction sign. Logistic regression identified CEA level (OR = 1.042, 95%CI: 1.009-1.075), lesion type (OR = 9.683, 95%CI: 3.485-26.902), and main lesion diameter (OR = 1.677, 95%CI: 1.347-2.089) as independent predictors of LNM. The regression equation for the joint prediction was as follows: logit(p)= -7.569+0.041*CEA level +2.270* lesion type +0.517* main lesion diameter.ROC curve analysis showed that the AUC for CEA level was 0.765 (95% CI, 0.694–0.836), for lesion type was 0.794 (95% CI, 0.751–0.838), for main lesion diameter was 0.830 (95% CI, 0.784–0.875), and for the combine predict model was 0.895 (95% CI, 0.863–0.928). Conclusion The combination of clinical and imaging features can better predict the status of LNM of sMPLC, and the prediction efficiency is significantly higher than that of each factor alone, and can provide a basis for lymph node management decision.

Abstract Objective Hepatitis B virus (HBV) infection is associated with the incidence and prognosis of diffuse large B-cell lymphoma (DLBCL), and previous studies differ in terms of clinical characteristics and prognostic factors. In this study, we explored the clinical features and prognostic characteristics of real-world DLBCL patients infected with HBV. Methods Patients with pathologically diagnosed primary DLBCL at West China Hospital of Sichuan University were enrolled. Patients with follicular lymphoma-transformed DLBCL, primary central nervous system DLBCL, and hepatitis C virus, hepatitis E virus, human immunodeficiency virus, or syphilis infections were excluded. Ultimately, a total of 941 patients were included in this study. All patients included in the study underwent HBV serum marker testing before treatment. The demographic features, clinical characteristics and treatments of patients with different HBV infection states were collected and analyzed comprehensively to identify prognostic factors for OS and PFS. Results Statistical analysis of the data revealed that hepatitis B surface antigen positive (HBsAg +) DLBCL patients were younger and more likely to present with advanced disease, germinal center B cell-like subtype, B symptoms and splenic involvement. There were no significant differences in OS or PFS among patients with different HBV infection statuses ( $$\upchi$$ χ 2 = 0.139, P = 0.933; χ2 = 0.787, P = 0.675); R-CHOP/R-CHOP-like regimens improved prognosis in HBsAg + DLBCL patients (OS: χ2 = 7.679, P = 0.006; PFS: χ2 = 9.042, P = 0.003); antiviral prophylaxis for HBsAg + DLBCL patients improved OS and PFS (HR: 0.336, P = 0.012, 95% CI [0.143, 0.788]; HR: 0.397, P = 0.032, 95% CI [0.171, 0.925]), with tenofovir treatment being particularly effective (χ2 = 4.644, P = 0.031; χ2 = 4.554, P = 0.033). Conclusions HBsAg + DLBCL patients have unique clinical characteristics, and the use of CD20 monoclonal antibody based regimens significantly improves the outcome and prognosis of patients with HBsAg + DLBCL. Anti-HBV therapy, especially tenofovir, improves the prognosis of DLBCL patients with HBV presenting infection. Timely and sustained antiviral prophylaxis should be the standard strategy for treating DLBCL patients with HBV infection to optimize the efficacy of chemotherapy and immunotherapy.

Abstract Objective This study aims to present a case of persistent mycetoma caused by Scedosporium boydii and undertake a systematic literature overview to elucidate the clinical characteristics and antifungal treatment exhibited by such patients. Methods We report the case of a 24-year-old female who sustained a Scedosporium boydii infection in her right foot over a decade ago following a nail puncture. Concurrently, a comprehensive literature overview was conducted on PubMed, focusing on documented cases of Scedosporium boydii infections with the intent of extracting relevant clinical data. Results Our analysis revealed that post-transplantation, trauma, near drowning, corticosteroid administration, and prior surgical history were the main risk factors for Scedosporium boydii infection. Prevalent infection sites included skin/bone tissues, the central nervous system, and ocular regions. Among the 49 patients identified, 24 received itraconazole therapy and 25 received voriconazole, with no significant difference in patient outcomes (P = 0.158). Of these, 12 patients experienced treatment failure. Notably, prolonged antifungal treatment duration was identified as a protective factor against mortality in Scedosporium boydii infections [P = 0.022, OR(95%CI): 0.972(0.949–0.996)]. Conversely, a history of post-transplantation emerged as a potential risk factor for mortality[P = 0.046, OR(95%CI): 7.017(1.034–47.636)]. Conclusion While uncommon, Scedosporium boydii infections carry a significant burden of morbidity and adverse outcomes. Heightened clinical vigilance is warranted in individuals presenting with risk factors for this pathogen. Timely and effective antifungal intervention is crucial, with both voriconazole and itraconazole demonstrating positive treatment outcomes for Scedosporium boydii infection. Therefore, prioritizing these antifungal agents should be considered a key therapeutic strategy in the management of this patient population.

Abstract Background Though the survival of breast cancer (BC) patients with malignant pleural effusion (MPE) has been studied, this has not been specifically studied in the luminal B subtype. Therefore, this study investigated the characteristics and survival of luminal B-BC patients presenting with MPE. Methods We retrospectively analyzed 141 patients diagnosed with postoperative advanced Luminal B breast cancer, including 54 cases with MPE and 87 cases without MPE at the Tianjin Cancer Hospital from January 2012 to January 2015. We assessed the clinical characteristics between the groups. Results The mean age of all patients was 47 years, with no significant difference between the two groups. Altogether, 29 (33%), 24 (28%), 28 (32%), 45 (52%), and 10 (11%) patients had lung, liver, bone, lymph node, and chest wall metastases, respectively. In addition. The difference in overall survival between the two groups was not significant (P>0.05). However, cox regression analysis showed that only the tumor clinical stage at initial diagnosis was related to short overall survival. Further, we conducted a subgroup analysis and found that the higher the clinical stage at initial diagnosis in age 50 years patients was not. (P

Ru Yang,1,&ast; Wen Wang,1,2,&ast; Guomin Yin,1,2 Tingting Ma,1,2 Jia Tao1,2 1Center of Medical Laboratory, General Hospital of Ningxia Medical University, Yinchuan, 750004, People’s Republic of China; 2Ningxia Key Laboratory of Clinical and Pathogenic Microbiology, General Hospital of Ningxia Medical University, Yinchuan, 750004, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Jia Tao, Email taojia880625@163.comObjective: During conditions accompanied by the disruption of normal mucosal barriers, anaerobic bacteria, which a part of normal human mucosal microflora, may cause various infections. In this study, clinical features of anaerobic bloodstream infections (BSI) in a general hospital in China were investigated.Methods: Patients with anaerobic BSI were retrospectively enrolled between 2012 and 2022. Demographic data, clinical manifestations, antibiotic treatments, and disease outcomes were analyzed.Results: In total, 391 anaerobic bacterial strains were isolated from 381 patients aged older than 11 years of age. Given that medical records of 47 patients were missing, 334 patients were included in the clinical investigation. Patients with anaerobic BSI included in the study were predominantly older than 50 years of age. Intra-abdominal infections were the most common source of anaerobic BSI (59%), followed by those of the female genital tract (10.2%) and lower respiratory tract (7.2%). Among the isolates, Bacteroides and Clostridium spp. were the most frequently isolated anaerobes. Most of the patients received antibiotic therapy. The crude mortality was 4.5%.Conclusion: The detection rate of anaerobic BSI in Ningxia, China, remained relatively stable from 2012 to 2022. These results provide a reference for the diagnosis and empirical treatment of anaerobic BSI in this region of China. Continuous mul-ticenter studies should be conducted to monitor the incidence of anaerobic BSI and drug resistance of anaerobic isolates to improve the treatment outcomes of patients.Keywords: anaerobes, bloodstream infections, blood cultures, clinical features

Ya-Qing Lin,1 Na Li,2 Yan-Li Wu,1 Jin-Bao Ma,3 Hai-Nv Gao,1 Xuan Zhang4 1Key Laboratory of Artificial Organs and Computational Medicine in Zhejiang Province, Shulan (Hangzhou) Hospital Affiliated to Shulan International Medical College, Zhejiang Shuren University, Hangzhou, People’s Republic of China; 2Zhejiang Provincial General Hospital of the Chinese People’s Armed Police Force, Hangzhou, Zhejiang, People’s Republic of China; 3Department of Drug-Resistance Tuberculosis, Xi’an Chest Hospital, Xi’an, People’s Republic of China; 4State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, National Medical Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, People’s Republic of ChinaCorrespondence: Xuan Zhang, State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, National Medical Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, People’s Republic of China, Tel/Fax +86-571-87236479, Email zhangxuanxz@zju.edu.cn Hai-Nv Gao, Key Laboratory of Artificial Organs and Computational Medicine in Zhejiang Province, Shulan (Hangzhou) Hospital Affiliated to Shulan International Medical College, Zhejiang Shuren University, Hangzhou, People’s Republic of China, Tel +86-571-56757279, Email hainv.gao@shulan.comPurpose: There is a lack of real-world data on the epidemiology, clinical manifestations, treatment effects, and prognosis of coronavirus disease 2019 (COVID-19) in patients with B-cell non-Hodgkin lymphoma (B-NHL). This study aimed to investigate the clinical features and prognostic factors of COVID-19 in patients with B-NHL.Patients and Methods: This study included individuals diagnosed with B-NHL who were also diagnosed with COVID-19 and hospitalized. A retrospective analysis was conducted, and univariate and multivariate logistic regression were used to identify independent factors affecting the duration of the positive-to-negative transition of COVID-19 nucleic acid test results and prognoses. Receiver operating characteristic curves were used to assess diagnostic accuracy and determine the optimal threshold.Results: Among 80 patients with COVID-19 and B-NHL, relapsed or refractory lymphoma and diffuse large B-cell lymphoma (DLBCL) accounted for 13.8% and 65% of cases, respectively. The mean age was 60.4 ± 13.0 years, and 50% of patients were women. The median duration of the positive-to-negative transition was 14 days (interquartile range [IQR], 17.2), and the median hospitalization duration was 12 days (IQR, 13). The rate of severe disease was 26.25%, and the 28-day mortality rate was 10.00%. Univariate and multivariate logistic regression analyses revealed that pathological classification of B-NHL, infection with COVID-19 within 3 months after the last dose of anti-CD20 monoclonal antibodies, and corticosteroid use were independent factors associated with a prolonged duration of the positive-to-negative transition. Compared with patients with DLBCL or FL and COVID-19, patients with B-NHL had longer nucleic acid test transition durations and higher rates of severe disease and mortality.Conclusion: In patients with B-NHL, infection with COVID-19 within 3 months after treatment with anti-CD20 monoclonal antibodies prolonged the positive-to-negative transition of nucleic acid test results and increased the risks of severe disease and 28-day mortality. Treatment with corticosteroids further prolonged this transition.Keywords: COVID-19 infection, B-cell non-Hodgkin lymphoma, clinical features, prognosis

Abstract Background Congenital syphilis (CS) is a sexually transmitted disease caused by Treponema pallidum (TP). When the skeletal system is involved, it often results in multiple, symmetrical bone destruction at the epiphyses of long tubular bones such as the humerus and radius, rarely involving the calcaneus. This article reports a case of calcaneal osteomyelitis caused by TP in a child with no other bone damage and subtle clinical manifestations, No similar cases have been reported. Case presentation A 4-month-old male infant presented with right foot swelling without any obvious cause and no history of trauma. X-ray and CT scans showed bone loss in the calcaneus and surrounding soft tissue swelling. Review of past medical records revealed that the infant had been diagnosed with CS infection during a hospital stay for “pneumonia” at one month old. The parents refused surgery, opting for conservative treatment at an external hospital for three weeks, during which the symptoms of the affected foot showed no significant improvement. Subsequently, the child was treated at our hospital with surgery, including lesion removal and cast fixation, followed by oral antibiotic treatment. The last follow-up showed no swelling or tenderness in the affected foot, with good mobility, and X-rays indicated that the bone had essentially returned to normal. Conclusions Early CS rarely involves the calcaneus. When diagnosing unexplained calcaneal osteomyelitis in infants, this rare cause should be considered. A thorough medical history should be taken and a careful physical examination conducted. Once diagnosed, timely surgical debridement and appropriate antibiotic therapy targeting TP infection are required. Early identification and intervention can result in a good prognosis without related complications.

Abstract Background Atrial fibrillation (AF) has emerged as a notable public health issue in China due to the aging population and rapid urbanization. This study aimed to describe the characteristics of patients with AF (paroxysmal and nonparoxysmal) and investigate the association between left ventricular ejection fraction (LVEF) levels and AF subtypes to facilitate early prevention in patients with AF. Method Patients with AF who presented at the cardiology department of the First People’s Hospital of Yancheng were recruited in this study. In univariate and multivariate logistic regression analyses, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to evaluate the relationships between each dependent variable and nonparoxysmal AF. The restricted cubic splines (RCS) curve was employed to explore the linear relationship between LVEF and nonparoxysmal AF on a continuous scale. Subgroup analysis was applied to examine the stability of the results. Results The study included a total of 2054 patients who were diagnosed with AF. 652 (31.74%) patients had paroxysmal AF, and 1402 (68.26%) had nonparoxysmal AF. Multivariate logistic regression analyses indicated that compared to those with paroxysmal AF, patients with nonparoxysmal AF tended to have a higher prevalence of coronary artery disease, lower levels of LVEF, and an elevated heart rate. Additionally, RCS curves also showed that LVEF was negatively and linearly associated with the nonparoxysmal AF. Furthermore, the association between LVEF and nonparoxysmal AF was stronger among patients with hypertension and obesity (P for interaction

Abstract 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.

Objective: To present the clinical features of retinal astrocytic hamartoma (RAH) based on the acquired experience Methods: Medical records were analyzed on 10 patients diagnosed with RAH at the S. Fyodorov Eye Microsurgery Federal State Institution, Moscow, Russia, between 2013 and 2023. The average age of the patients was 16 years (range, 1 month – 32 years). Among these patients were 6 men, 1 woman, and 3 children (1 boy and 2 girls). The patients underwent a comprehensive ophthalmological examination, including visometry, tonometry, perimetry, biomicroscopy, ophthalmoscopy, and B-scan ultrasonography to determine the location and size of the lesion, as well as optical coherence tomography (OCT) for secondary retinal detachment Results: The average visual acuity (VA) of patients at the time of diagnosis was 0.7 (range, 0.16-1.0). VA in young children was assessed by tracking moving objects. All children were able to fixate and actively track the object. Most patients (n=8; 80%) were diagnosed with RAH based on the clinical (ophthalmoscopic) picture of the fundus, ultrasound, and OCT data. The average height of the RAH was 1.7 mm (range, 1.0 to 3.2 mm), and the average length was 4.2 mm (range, 0.4 to 7.6 mm). In all cases, the B-scan results showed lesions with hyperechogenicity of high amplitude. 4 patients displayed common signs – thickening of the neuroepithelium with optically empty spaces with a lobulated, "moth-eaten" appearance on the OCT. In contrast, the remaining patients had a homogeneous hyper-reflective thickening of the neuroepithelium in the lesion area. Two patients (20%) had cystoid macular edema in the fovea and secondary flat detachment of the neuroepithelium extending from the hamartoma to the fovea Conclusion: Differential diagnosis of RAH and retinoblastoma (RB) is crucial because, if misdiagnosed, it leads to unnecessary and aggressive treatment

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

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.

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.

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

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.

Hui Huang,1– 3,&ast; Qing Ye,1– 4,&ast; Yulan Xu,1– 3,&ast; 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&ast;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

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.

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 Purpose Since May 2022, Mpox has spread extensively outside of Africa, posing a serious threat to the health of people globally, and particularly to the men who have sex with men (MSM) population. Chongqing, a province in Southwest China, has relatively large MSM and people living with HIV (PLWH) populations, presenting conditions conducive to the wide dissemination of Mpox. In this study, we investigated the clinical characteristics of Mpox patients among MSM and PLWH in Chongqing, aiming to inform the development of targeted prevention, control, and treatment strategies for Mpox. Method We evaluated the clinical characteristics, travel history, time of onset, distribution and number of skin lesions of Mpox patients admitted to the Chongqing Public Health Medical Center between September 2022 and October 2023. Meanwhile, a series of clinical samples were collected and the pathogen of interest was identified as Mpox virus using quantitative polymerase chain reaction (qPCR). The results were presented in the form of cycle thresholds (Ct), which help to approximate the quantification of viral load. Results As of October 11, 2023, the Chongqing Public Health Medical Center reported a total of nine Mpox virus infections. All the patients identified were male and belonged to the MSM population, among whom seven (77.8%) were living with HIV, and maintained a preserved immune system while achieving viral suppression via effective ART. We observed no discernible clinical differences between MSM with Mpox with or without HIV, and no fatalities were recorded. Viral loads were observed to be higher in samples taken from the skin than those from the throat, nasopharynx, blood, or semen. Conclusion In this retrospective study, the clinical manifestations of MPXV infection appeared consistent among MSM patients, regardless of HIV status. Elevated MPXV viral loads in the skin and mucosal tissues, particularly at genital and anal sites, indicate that transmission is more likely to occur via direct physical contact as opposed to respiratory pathways or through exposure to bodily fluids.

Abstract Background Metal-regulatory transcription factor 1 (MTF1), a conserved metal-binding transcription factor in eukaryotes, regulates the proliferation of cancer cells by activating downstream target genes and then participates in the formation and progression of tumors, including lung cancer (LC). The expression level of MTF1 is down-regulated in LC, and high expression of MTF1 is associated with a good prognosis of LC. However, the association between MTF1 polymorphism and LC risk has not been explored. Methods The genotyping of MTF1 Single nucleotide polymorphisms (SNPs) including rs473279, rs28411034, rs28411352, and rs3748682 was identified by the Agena MassARRAY system among 670 healthy controls and 670 patients with LC. The odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistics regression to assess the association of these SNPs with LC risk. Results MTF1 rs28411034 (OR 1.22, 95% CI 1.03–1.45, p = 0.024) and rs3748682 (OR 1.24, 95% CI 1.04–1.47, p = 0.014) were associated with higher LC susceptibility overall. Moreover, the effect of rs28411034 and rs3748682 on LC susceptibility was observed in males, subjects with body mass index (BMI) ≥ 24 kg/m2, smokers, drinkers, and patients with lung squamous carcinoma (OR and 95% CI > 1, p