Background: Biliary mucinous cystic neoplasms(BMCNs) are rare hepatobiliary cystic tumors, which can be divided into noninvasive and invasive types. This study aimed to investigate the diagnosis, treatment, and progno...Background: Biliary mucinous cystic neoplasms(BMCNs) are rare hepatobiliary cystic tumors, which can be divided into noninvasive and invasive types. This study aimed to investigate the diagnosis, treatment, and prognosis of BMCNs in a large single center. Methods: We analyzed 49 patients with BMCNs confirmed by postoperative pathology at the First Afflliated Hospital, Zhejiang University School of Medicine between January 2007 and December 2021. Results: Among the 49 patients, 37 were female(75.5%), and the average age was 57.04 years. Common symptoms included abdominal discomfort, jaundice and fever, while 22 patients(44.9%) had no symptoms. Serum carbohydrate antigen(CA) 19-9 and CA125 concentrations were elevated in 34.8% and 19.6% of patients, respectively. Forty-eight patients had tumors in the intrahepatic bile ducts and only one had a tumor in the extrahepatic bile duct. Forty-eight patients with noninvasive intrahepatic BMCNs were further analyzed in terms of pathological features: 34(70.8%) had low-grade intraepithelial neoplasms(LGINs), and 14(29.2%) had high-grade intraepithelial neoplasms(HGINs). The potential immunohistochemical markers of BMCNs were cytokeratin(CK) 19, CK7, estrogen receptor and progesterone receptor. Follow-up data for 37 patients with intrahepatic BMCNs were obtained. The median overall survival(OS) of BMCNs was not reached. The longest survival time was 137 months.The 5-and 10-year OS rates were 100% and 85.4%, respectively. The 5-and 10-year recurrence-free survival(RFS) rates were 93.9% and 80.2%, respectively. Conclusions: BMCNs are rare cystic neoplasms that commonly occur in middle-aged females. BMCNs can only be diagnosed and classified by postoperative pathology, as there are no specific clinical presentations, serological indicators or imaging modalities for preoperative diagnosis. Complete surgical resection is necessary for BMCNs, and the postoperative prognosis is favorable.展开更多
In this editorial,a comment on the article by Díaz-López et al published in the recent issue of the 2024 is provided.We focus on the practical implications critical for providing a correct and complete diagn...In this editorial,a comment on the article by Díaz-López et al published in the recent issue of the 2024 is provided.We focus on the practical implications critical for providing a correct and complete diagnosis of mixed neuroendocrine-nonneuroendocrine neoplasm(MiNEN)in the gastrointestinal system.The diagnosis of MiNEN begins with the recognition of neuroendocrine features in one component of a biphasic tumor.The non-neuroendocrine counterpart can be virtually represented by any neoplastic type,even though the most frequent histologies are glandular and squamous.However,qualification of the neuroendocrine component requires histological and immunohistochemical confirmation.Neuroendocrine tumors are characterized by a peculiar architectural organization and bland nuclei with granular“salt and pepper”chromatin.Although neuroendocrine carcinomas have multiple and variable presentations,they typically show a solid or organoid architecture.The histological aspect needs to be confirmed by immunohistochemistry,and a diagnosis is confirmed whenever the expression of keratin and neuroendocrine markers is observed.Once both histopathological and immunohistochemical features of neuroendocrine neoplasms are identified,it is important to consider the three major pitfalls of MiNEN diagnostics:(1)Entrapment of neuroendocrine non-neoplastic cells within the tumor mass;(2)Differential diagnosis with amphicrine neoplasms;and(3)Differential diagnosis of tumors that partially express neuroendocrine markers.According to the current guidelines for diagnosing digestive MiNEN,each component must represent at least 30%of the entire neoplastic mass.Although the high-grade histopathological subtype frequently determines disease prognosis,both components can significantly affect prognosis.Thus,if one of the components,either neuroendocrine or non-neuroendocrine,does not fulfill the volumetric criteria,the guidelines still encourage reporting it.These strict criteria are essential for correctly recognizing and characterizing digestive MiNENs.This task is essential because it has prognostic relevance and substantial potential value for guiding further studies in this field.In the future,systematic analyses should be performed to validate or reconsider the current 30%cutoff value.展开更多
Primary appendiceal neoplasms represent a relatively low percentage of all gastrointestinal cancers. A subset of these neoplasms, those of epithelial origin, are characterised by the production of a considerable amoun...Primary appendiceal neoplasms represent a relatively low percentage of all gastrointestinal cancers. A subset of these neoplasms, those of epithelial origin, are characterised by the production of a considerable amount of mucus, which is referred to as appendiceal mucinous neoplasms (AMN). Appendiceal mucinous neoplasms (AMN) have a low incidence, are easily misdiagnosed, depend on postoperative examination for confirmation of the diagnosis, are prone to form a “diagnosis”, and have a high incidence of the disease. Furthermore, they are prone to form peritoneal pseudomyxoma peritonei (PMP), are controversial in surgical decision-making, are prone to recurring after surgery alone, and are tricky to manage clinically. In this paper, we review the pathological characteristics, diagnosis and treatment of appendiceal mucinous tumours in the light of recent literature reports, with a view to providing certain references for the clinical diagnosis and treatment of this disease. .展开更多
Challenges in the diagnosis and treatment of Parkinson’s disease:Parkinson’s disease(PD)is an increasingly prevalent neurodegenerative disease,at first sight primarily characterized by motor symptoms,although non-mo...Challenges in the diagnosis and treatment of Parkinson’s disease:Parkinson’s disease(PD)is an increasingly prevalent neurodegenerative disease,at first sight primarily characterized by motor symptoms,although non-motor symptoms also constitute a major part of the overall phenotype.Clinically,this disease cannot be diagnosed reliably until a large part of the vulnerable dopaminergic neurons has been irretrievably lost,and the disease progresses inexorably.New biological criteria for PD have been proposed recently and might eventually improve early diagnosis,but they require further validation,and their use will initially be restricted to a research environment(Darweesh et al.,2024).展开更多
Traumatic brain injury (TBI) is defined as damage to the brain resulting from an external sudden physical force or shock to the head.It is considered a silent public health epidemic causing significant death and disab...Traumatic brain injury (TBI) is defined as damage to the brain resulting from an external sudden physical force or shock to the head.It is considered a silent public health epidemic causing significant death and disability globally.There were 64,000 TBI related deaths reported in the USA in 2020,with about US$76 billion in direct and indirect medical costs annually.展开更多
Traditional data-driven fault diagnosis methods depend on expert experience to manually extract effective fault features of signals,which has certain limitations.Conversely,deep learning techniques have gained promine...Traditional data-driven fault diagnosis methods depend on expert experience to manually extract effective fault features of signals,which has certain limitations.Conversely,deep learning techniques have gained prominence as a central focus of research in the field of fault diagnosis by strong fault feature extraction ability and end-to-end fault diagnosis efficiency.Recently,utilizing the respective advantages of convolution neural network(CNN)and Transformer in local and global feature extraction,research on cooperating the two have demonstrated promise in the field of fault diagnosis.However,the cross-channel convolution mechanism in CNN and the self-attention calculations in Transformer contribute to excessive complexity in the cooperative model.This complexity results in high computational costs and limited industrial applicability.To tackle the above challenges,this paper proposes a lightweight CNN-Transformer named as SEFormer for rotating machinery fault diagnosis.First,a separable multiscale depthwise convolution block is designed to extract and integrate multiscale feature information from different channel dimensions of vibration signals.Then,an efficient self-attention block is developed to capture critical fine-grained features of the signal from a global perspective.Finally,experimental results on the planetary gearbox dataset and themotor roller bearing dataset prove that the proposed framework can balance the advantages of robustness,generalization and lightweight compared to recent state-of-the-art fault diagnosis models based on CNN and Transformer.This study presents a feasible strategy for developing a lightweight rotating machinery fault diagnosis framework aimed at economical deployment.展开更多
Epilepsy is a severe,relapsing,and multifactorial neurological disorder.Studies regarding the accurate diagnosis,prognosis,and in-depth pathogenesis are crucial for the precise and effective treatment of epilepsy.The ...Epilepsy is a severe,relapsing,and multifactorial neurological disorder.Studies regarding the accurate diagnosis,prognosis,and in-depth pathogenesis are crucial for the precise and effective treatment of epilepsy.The pathogenesis of epilepsy is complex and involves alterations in variables such as gene expression,protein expression,ion channel activity,energy metabolites,and gut microbiota composition.Satisfactory results are lacking for conventional treatments for epilepsy.Surgical resection of lesions,drug therapy,and non-drug interventions are mainly used in clinical practice to treat pain associated with epilepsy.Non-pharmacological treatments,such as a ketogenic diet,gene therapy for nerve regeneration,and neural regulation,are currently areas of research focus.This review provides a comprehensive overview of the pathogenesis,diagnostic methods,and treatments of epilepsy.It also elaborates on the theoretical basis,treatment modes,and effects of invasive nerve stimulation in neurotherapy,including percutaneous vagus nerve stimulation,deep brain electrical stimulation,repetitive nerve electrical stimulation,in addition to non-invasive transcranial magnetic stimulation and transcranial direct current stimulation.Numerous studies have shown that electromagnetic stimulation-mediated neuromodulation therapy can markedly improve neurological function and reduce the frequency of epileptic seizures.Additionally,many new technologies for the diagnosis and treatment of epilepsy are being explored.However,current research is mainly focused on analyzing patients’clinical manifestations and exploring relevant diagnostic and treatment methods to study the pathogenesis at a molecular level,which has led to a lack of consensus regarding the mechanisms related to the disease.展开更多
In this article,we discuss Ye et al's recent article on the association between age at diabetes diagnosis and subsequent risk of age-related ocular diseases.The study,which utilized United Kingdom Biobank data,hig...In this article,we discuss Ye et al's recent article on the association between age at diabetes diagnosis and subsequent risk of age-related ocular diseases.The study,which utilized United Kingdom Biobank data,highlighted a strong link between early diabetes onset and major eye conditions,such as cataracts,glaucoma,agerelated macular degeneration,and vision loss,independent of glycemic control and disease duration.This finding challenges the previous belief that diabetic eye disease primarily correlates with hyperglycemia.As lifestyles evolve and the age of diabetes diagnosis decreases,understanding this relationship may reveal the complex pathogenesis underlying diabetes-related complications.This editorial summarizes potential mechanisms connecting the age of diabetes onset with four types of ocular diseases,emphasizing the significance of early diagnosis.展开更多
Anorectal melanoma is a rare tumor representing less than 1% of anorectal cancers and around 0.3% of malignant melanomas. Its prognosis is particularly poor due to the early occurrence of metastases. We report the cas...Anorectal melanoma is a rare tumor representing less than 1% of anorectal cancers and around 0.3% of malignant melanomas. Its prognosis is particularly poor due to the early occurrence of metastases. We report the case of a 65-year-old man presenting with rectorrhagia and anal pain, initially diagnosed as hemorrhoidal disease. Subsequent proctological examination revealed an ulcerating-bourging tumor, confirmed histologically as an anorectal melanoma. After a normal extension workup, an abdominoperineal amputation was performed. Anorectal melanoma is a pathology with a poor prognosis, requiring early diagnosis to improve chances of survival.展开更多
Accurate medical diagnosis,which involves identifying diseases based on patient symptoms,is often hindered by uncertainties in data interpretation and retrieval.Advanced fuzzy set theories have emerged as effective to...Accurate medical diagnosis,which involves identifying diseases based on patient symptoms,is often hindered by uncertainties in data interpretation and retrieval.Advanced fuzzy set theories have emerged as effective tools to address these challenges.In this paper,new mathematical approaches for handling uncertainty in medical diagnosis are introduced using q-rung orthopair fuzzy sets(q-ROFS)and interval-valued q-rung orthopair fuzzy sets(IVq-ROFS).Three aggregation operators are proposed in our methodologies:the q-ROF weighted averaging(q-ROFWA),the q-ROF weighted geometric(q-ROFWG),and the q-ROF weighted neutrality averaging(qROFWNA),which enhance decision-making under uncertainty.These operators are paired with ranking methods such as the similarity measure,score function,and inverse score function to improve the accuracy of disease identification.Additionally,the impact of varying q-rung values is explored through a sensitivity analysis,extending the analysis beyond the typical maximum value of 3.The Basic Uncertain Information(BUI)method is employed to simulate expert opinions,and aggregation operators are used to combine these opinions in a group decisionmaking context.Our results provide a comprehensive comparison of methodologies,highlighting their strengths and limitations in diagnosing diseases based on uncertain patient data.展开更多
Upper gastrointestinal bleeding (UGIB) refers to the bleeding caused by the digestive tract above the flexor ligament, including esophageal, gastric, duodenal, pancreatic and biliary diseases, and lesions after gastro...Upper gastrointestinal bleeding (UGIB) refers to the bleeding caused by the digestive tract above the flexor ligament, including esophageal, gastric, duodenal, pancreatic and biliary diseases, and lesions after gastrojejunostomy. UGIB is one of the common diseases in the clinical work of gastroenterology. There are many causes that can lead to upper gastrointestinal bleeding, which are mainly divided into two categories: one is non-variceal upper gastrointestinal bleeding (NVUGIB), and the other is variceal upper gastrointestinal bleeding (VUGIB). This article reviews various causes of UGIB and the latest progress in treatment, aiming to improve the efficiency of diagnosis and treatment in future clinical work, and reduce the risk of rebleeding and mortality.展开更多
Port structures constitute the main link in the maritime transport chain of coastal countries and therefore contribute to their economic development. But it should be noted that the installation of said works is not w...Port structures constitute the main link in the maritime transport chain of coastal countries and therefore contribute to their economic development. But it should be noted that the installation of said works is not without consequences for the countries concerned. Benin, a country in the Gulf of Guinea, is no exception to this phenomenon because, due to its maritime history, it has a heritage of port structures. These structures, built on its coastline, cause a wide variety of environmental problems such as silting and erosion on either side of them. The general objective of this article is to contribute to the proper functionality of port facilities while minimizing environmental problems that may arise. It aims to provide managers with a tool allowing them to fully understand the state of their assets in order to rationalize maintenance actions. In order to achieve this objective, an assessment of the state of the structure, and then a structural diagnosis are necessary and recommendations can be established to restore the level of service of the latter. As a result, two examples were presented: the wharf of the Sèmè-Podji pipeline project and the maritime piles project of the Wasco de Gama bridge (control project), and recommendations adapted to this objective were established. The comparative analysis of the two examples, both maritime works, revealed an under-sizing at the level of the spans of the wharf bridge of the Sèmè-Podji pipeline project (spans of 7 m in length), while these spans vary on average by 45 m to 62 m for the Wasco da Gama bridge. Bringing the piles closer together at the Sèmè-Podji wharf reduces the energy of the current which promotes the accumulation of sediment. The structure no longer experiences a flow capable of setting in motion the sands accumulated since at least 2022. This element appears to be a fundamental characteristic explaining the erosion observed to the east of the structure.展开更多
Context: The presence of conjoined twins is a rare occurrence during pregnancy. Today, early diagnosis is possible thanks to advances in imaging, particularly three-dimensional ultrasound, and the intervention of a tr...Context: The presence of conjoined twins is a rare occurrence during pregnancy. Today, early diagnosis is possible thanks to advances in imaging, particularly three-dimensional ultrasound, and the intervention of a trained operator. This antenatal diagnosis can be used to decide whether or not to continue the pregnancy. Cases presentation: Based on the authors’ experience, five (05) cases of conjoined twins were collected over a period of six years (01 January 2018-01 January 2023) in the maternity wards of the Angre’s Teaching Hospital (study location), whose diagnosis was sometimes unexpected in the delivery room. Among the five cases, we described three (03) thoraco-omphalopages and two (02) parapages, with a female predominance of 4/5. None were candidates for separation because they were stillborn or died on the first day of life. Conclusion: This series of cases highlights the different characteristics of conjoined twins and the poor fetal prognosis due to diagnostic difficulties and therapeutic possibilities that are practically non-existent in the African environment.展开更多
Post-traumatic stress disorder is a mental disorder caused by exposure to severe traumatic life events.Currently,there are no validated biomarkers or laboratory tests that can distinguish between trauma survivors with...Post-traumatic stress disorder is a mental disorder caused by exposure to severe traumatic life events.Currently,there are no validated biomarkers or laboratory tests that can distinguish between trauma survivors with and without post-traumatic stress disorder.In addition,the heterogeneity of clinical presentations of post-traumatic stress disorder and the overlap of symptoms with other conditions can lead to misdiagnosis and inappropriate treatment.Evidence suggests that this condition is a multisystem disorder that affects many biological systems,raising the possibility that peripheral markers of disease may be used to diagnose post-traumatic stress disorder.We performed a PubMed search for microRNAs(miRNAs)in post-traumatic stress disorder(PTSD)that could serve as diagnostic biomarkers and found 18 original research articles on studies performed with human patients and published January 2012 to December 2023.These included four studies with whole blood,seven with peripheral blood mononuclear cells,four with plasma extracellular vesicles/exosomes,and one with serum exosomes.One of these studies had also used whole plasma.Two studies were excluded as they did not involve microRNA biomarkers.Most of the studies had collected samples from adult male Veterans who had returned from deployment and been exposed to combat,and only two were from recently traumatized adult subjects.In measuring miRNA expression levels,many of the studies had used microarray miRNA analysis,miRNA Seq analysis,or NanoString panels.Only six studies had used real time polymerase chain reaction assay to determine/validate miRNA expression in PTSD subjects compared to controls.The miRNAs that were found/validated in these studies may be considered as potential candidate biomarkers for PTSD and include miR-3130-5p in whole blood;miR-193a-5p,-7113-5p,-125a,-181c,and-671-5p in peripheral blood mononuclear cells;miR-10b-5p,-203a-3p,-4488,-502-3p,-874-3p,-5100,and-7641 in plasma extracellular vesicles/exosomes;and miR-18a-3p and-7-1-5p in blood plasma.Several important limitations identified in the studies need to be taken into account in future studies.Further studies are warranted with war veterans and recently traumatized children,adolescents,and adults having PTSD and use of animal models subjected to various stressors and the effects of suppressing or overexpressing specific microRNAs.展开更多
Dear Editor,We are writing this letter to report a special missed diagnosis case of pediatric ocular trauma with intraorbital pencil core foreign body.When an eye trauma occurs,orbital foreign bodies are widespread.Th...Dear Editor,We are writing this letter to report a special missed diagnosis case of pediatric ocular trauma with intraorbital pencil core foreign body.When an eye trauma occurs,orbital foreign bodies are widespread.The most common types of foreign bodies are metal,followed by plant foreign bodies,while oil foreign bodies are rare.展开更多
We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies wer...We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies were performed with whole blood,4 with blood plasma,5 with blood serum,1 with serum neural cell adhesion molecule L1-captured extracellular vesicles,1 with blood cells,and 2 with peripheral blood mononuclear cells.Most of the studies involved children and the study cohorts were largely males.Many of the studies had performed microRNA sequencing or quantitative polymerase chain reaction assays to measure microRNA expression.Only five studies had used real-time polymerase chain reaction assay to validate microRNA expression in autism spectrum disorder subjects compared to controls.The microRNAs that were validated in these studies may be considered as potential candidate biomarkers for autism spectrum disorder and include miR-500a-5p,-197-5p,-424-5p,-664a-3p,-365a-3p,-619-5p,-664a-3p,-3135a,-328-3p,and-500a-5p in blood plasma and miR-151a-3p,-181b-5p,-320a,-328,-433,-489,-572,-663a,-101-3p,-106b-5p,-19b-3p,-195-5p,and-130a-3p in blood serum of children,and miR-15b-5p and-6126 in whole blood of adults.Several important limitations were identified in the studies reviewed,and need to be taken into account in future studies.Further studies are warranted with children and adults having different levels of autism spectrum disorder severity and consideration should be given to using animal models of autism spectrum disorder to investigate the effects of suppressing or overexpressing specific microRNAs as a novel therapy.展开更多
Objective:To explore the application value of artificial intelligence-assisted diagnostic systems in the computed tomography(CT)diagnosis of pulmonary nodules.Methods:A total of 80 patients with pulmonary nodules,trea...Objective:To explore the application value of artificial intelligence-assisted diagnostic systems in the computed tomography(CT)diagnosis of pulmonary nodules.Methods:A total of 80 patients with pulmonary nodules,treated from June 2023 to May 2024,were included.All patients underwent pathological examination and CT scans,with pathological results serving as the gold standard.The diagnostic performance of CT alone and CT combined with the artificial intelligence-assisted diagnostic system was analyzed,and differences in CT imaging features and evaluation results of benign and malignant pulmonary nodules were compared.Results:The sensitivity,specificity,and accuracy of CT combined with the artificial intelligence-assisted diagnostic system were significantly higher than those of CT alone(P<0.05).Moreover,the false-positive and false-negative rates were significantly lower for the combined approach compared to CT alone(P<0.05).Conclusion:The artificial intelligence-assisted diagnostic system effectively identifies malignant features in pulmonary nodules,providing valuable clinical reference data and enhancing diagnostic accuracy and efficiency.展开更多
BACKGROUND Phelan-McDermid syndrome(PMS)is a rare genetic disorder characterized by intellectual disability,delayed language development,autism spectrum disorders,motor tone abnormalities,and a high risk of psychiatri...BACKGROUND Phelan-McDermid syndrome(PMS)is a rare genetic disorder characterized by intellectual disability,delayed language development,autism spectrum disorders,motor tone abnormalities,and a high risk of psychiatric symptoms,including bipolar disorder.CASE SUMMARY This report presented an 18-year clinical history of a 36-year-old woman with PMS,marked by intellectual disabilities,social withdrawal,and stereotyped behaviors.Diagnosed with bipolar disorder at the age of 18 years old,she encountered significant treatment challenges,including severe adverse reactions to antipsychotic medications in 2022,which led to speech and functional regression.Through rehabilitation and comprehensive therapy,her condition gradually improved.In 2024,after further treatment,her symptoms stabilized,highlighting the complexities and successes of long-term management.CONCLUSION Effective management of PMS requires a thorough clinical history,genetic testing,and long-term supportive care.展开更多
Internal herniation(IH)refers to the movement of intra-abdominal organs or tissues out of their original position through normal or abnormal orifices and fissures in the peritoneum or mesentery and into an anatomic sp...Internal herniation(IH)refers to the movement of intra-abdominal organs or tissues out of their original position through normal or abnormal orifices and fissures in the peritoneum or mesentery and into an anatomic space within the abdominal cavity.Although the incidence of small bowel obstruction(SBO)caused by IH is very low(approximately 0.2%to 0.9%),its incidence may be increased in certain specific populations or in postoperative patients.Recently Kaw et al shared their 13-year experience of managing IHs in a tertiary care hospital in India.This retrospective study analyzed and determined the clinico-demographic profiles,radiological and operative findings and postoperative course of patients with IH and the association with SBO.The results provide valuable insights into early diagnosis and establishment of a timely treatment regimen for this condition and emphasize the importance of combining rapid imaging evaluation with the traditional therapeutic approach of laparoscopic surgery,thus providing a novel perspective on the diagnosis and treatment of SBO caused by IH.展开更多
Objective: This study investigates the auxiliary role of resting-state electroencephalography (EEG) in the clinical diagnosis of attention-deficit hyperactivity disorder (ADHD) using machine learning techniques. Metho...Objective: This study investigates the auxiliary role of resting-state electroencephalography (EEG) in the clinical diagnosis of attention-deficit hyperactivity disorder (ADHD) using machine learning techniques. Methods: Resting-state EEG recordings were obtained from 57 children, comprising 28 typically developing children and 29 children diagnosed with ADHD. The EEG signal data from both groups were analyzed. To ensure analytical accuracy, artifacts and noise in the EEG signals were removed using the EEGLAB toolbox within the MATLAB environment. Following preprocessing, a comparative analysis was conducted using various ensemble learning algorithms, including AdaBoost, GBM, LightGBM, RF, XGB, and CatBoost. Model performance was systematically evaluated and optimized, validating the superior efficacy of ensemble learning approaches in identifying ADHD. Conclusion: Applying machine learning techniques to extract features from resting-state EEG signals enabled the development of effective ensemble learning models. Differential entropy and energy features across multiple frequency bands proved particularly valuable for these models. This approach significantly enhances the detection rate of ADHD in children, demonstrating high diagnostic efficacy and sensitivity, and providing a promising tool for clinical application.展开更多
基金supported by grants from Zhejiang Natural Science Foundation (GF21H030024)the General Scientific Re-search Project of Zhejiang Provincial Department of Education (Y202146219)the Postgraduate Education Research Project of Zhejiang University (20220326)。
文摘Background: Biliary mucinous cystic neoplasms(BMCNs) are rare hepatobiliary cystic tumors, which can be divided into noninvasive and invasive types. This study aimed to investigate the diagnosis, treatment, and prognosis of BMCNs in a large single center. Methods: We analyzed 49 patients with BMCNs confirmed by postoperative pathology at the First Afflliated Hospital, Zhejiang University School of Medicine between January 2007 and December 2021. Results: Among the 49 patients, 37 were female(75.5%), and the average age was 57.04 years. Common symptoms included abdominal discomfort, jaundice and fever, while 22 patients(44.9%) had no symptoms. Serum carbohydrate antigen(CA) 19-9 and CA125 concentrations were elevated in 34.8% and 19.6% of patients, respectively. Forty-eight patients had tumors in the intrahepatic bile ducts and only one had a tumor in the extrahepatic bile duct. Forty-eight patients with noninvasive intrahepatic BMCNs were further analyzed in terms of pathological features: 34(70.8%) had low-grade intraepithelial neoplasms(LGINs), and 14(29.2%) had high-grade intraepithelial neoplasms(HGINs). The potential immunohistochemical markers of BMCNs were cytokeratin(CK) 19, CK7, estrogen receptor and progesterone receptor. Follow-up data for 37 patients with intrahepatic BMCNs were obtained. The median overall survival(OS) of BMCNs was not reached. The longest survival time was 137 months.The 5-and 10-year OS rates were 100% and 85.4%, respectively. The 5-and 10-year recurrence-free survival(RFS) rates were 93.9% and 80.2%, respectively. Conclusions: BMCNs are rare cystic neoplasms that commonly occur in middle-aged females. BMCNs can only be diagnosed and classified by postoperative pathology, as there are no specific clinical presentations, serological indicators or imaging modalities for preoperative diagnosis. Complete surgical resection is necessary for BMCNs, and the postoperative prognosis is favorable.
文摘In this editorial,a comment on the article by Díaz-López et al published in the recent issue of the 2024 is provided.We focus on the practical implications critical for providing a correct and complete diagnosis of mixed neuroendocrine-nonneuroendocrine neoplasm(MiNEN)in the gastrointestinal system.The diagnosis of MiNEN begins with the recognition of neuroendocrine features in one component of a biphasic tumor.The non-neuroendocrine counterpart can be virtually represented by any neoplastic type,even though the most frequent histologies are glandular and squamous.However,qualification of the neuroendocrine component requires histological and immunohistochemical confirmation.Neuroendocrine tumors are characterized by a peculiar architectural organization and bland nuclei with granular“salt and pepper”chromatin.Although neuroendocrine carcinomas have multiple and variable presentations,they typically show a solid or organoid architecture.The histological aspect needs to be confirmed by immunohistochemistry,and a diagnosis is confirmed whenever the expression of keratin and neuroendocrine markers is observed.Once both histopathological and immunohistochemical features of neuroendocrine neoplasms are identified,it is important to consider the three major pitfalls of MiNEN diagnostics:(1)Entrapment of neuroendocrine non-neoplastic cells within the tumor mass;(2)Differential diagnosis with amphicrine neoplasms;and(3)Differential diagnosis of tumors that partially express neuroendocrine markers.According to the current guidelines for diagnosing digestive MiNEN,each component must represent at least 30%of the entire neoplastic mass.Although the high-grade histopathological subtype frequently determines disease prognosis,both components can significantly affect prognosis.Thus,if one of the components,either neuroendocrine or non-neuroendocrine,does not fulfill the volumetric criteria,the guidelines still encourage reporting it.These strict criteria are essential for correctly recognizing and characterizing digestive MiNENs.This task is essential because it has prognostic relevance and substantial potential value for guiding further studies in this field.In the future,systematic analyses should be performed to validate or reconsider the current 30%cutoff value.
文摘Primary appendiceal neoplasms represent a relatively low percentage of all gastrointestinal cancers. A subset of these neoplasms, those of epithelial origin, are characterised by the production of a considerable amount of mucus, which is referred to as appendiceal mucinous neoplasms (AMN). Appendiceal mucinous neoplasms (AMN) have a low incidence, are easily misdiagnosed, depend on postoperative examination for confirmation of the diagnosis, are prone to form a “diagnosis”, and have a high incidence of the disease. Furthermore, they are prone to form peritoneal pseudomyxoma peritonei (PMP), are controversial in surgical decision-making, are prone to recurring after surgery alone, and are tricky to manage clinically. In this paper, we review the pathological characteristics, diagnosis and treatment of appendiceal mucinous tumours in the light of recent literature reports, with a view to providing certain references for the clinical diagnosis and treatment of this disease. .
文摘Challenges in the diagnosis and treatment of Parkinson’s disease:Parkinson’s disease(PD)is an increasingly prevalent neurodegenerative disease,at first sight primarily characterized by motor symptoms,although non-motor symptoms also constitute a major part of the overall phenotype.Clinically,this disease cannot be diagnosed reliably until a large part of the vulnerable dopaminergic neurons has been irretrievably lost,and the disease progresses inexorably.New biological criteria for PD have been proposed recently and might eventually improve early diagnosis,but they require further validation,and their use will initially be restricted to a research environment(Darweesh et al.,2024).
文摘Traumatic brain injury (TBI) is defined as damage to the brain resulting from an external sudden physical force or shock to the head.It is considered a silent public health epidemic causing significant death and disability globally.There were 64,000 TBI related deaths reported in the USA in 2020,with about US$76 billion in direct and indirect medical costs annually.
基金supported by the National Natural Science Foundation of China(No.52277055).
文摘Traditional data-driven fault diagnosis methods depend on expert experience to manually extract effective fault features of signals,which has certain limitations.Conversely,deep learning techniques have gained prominence as a central focus of research in the field of fault diagnosis by strong fault feature extraction ability and end-to-end fault diagnosis efficiency.Recently,utilizing the respective advantages of convolution neural network(CNN)and Transformer in local and global feature extraction,research on cooperating the two have demonstrated promise in the field of fault diagnosis.However,the cross-channel convolution mechanism in CNN and the self-attention calculations in Transformer contribute to excessive complexity in the cooperative model.This complexity results in high computational costs and limited industrial applicability.To tackle the above challenges,this paper proposes a lightweight CNN-Transformer named as SEFormer for rotating machinery fault diagnosis.First,a separable multiscale depthwise convolution block is designed to extract and integrate multiscale feature information from different channel dimensions of vibration signals.Then,an efficient self-attention block is developed to capture critical fine-grained features of the signal from a global perspective.Finally,experimental results on the planetary gearbox dataset and themotor roller bearing dataset prove that the proposed framework can balance the advantages of robustness,generalization and lightweight compared to recent state-of-the-art fault diagnosis models based on CNN and Transformer.This study presents a feasible strategy for developing a lightweight rotating machinery fault diagnosis framework aimed at economical deployment.
基金supported by the National Natural Science Foundation of China,No.32130060(to XG).
文摘Epilepsy is a severe,relapsing,and multifactorial neurological disorder.Studies regarding the accurate diagnosis,prognosis,and in-depth pathogenesis are crucial for the precise and effective treatment of epilepsy.The pathogenesis of epilepsy is complex and involves alterations in variables such as gene expression,protein expression,ion channel activity,energy metabolites,and gut microbiota composition.Satisfactory results are lacking for conventional treatments for epilepsy.Surgical resection of lesions,drug therapy,and non-drug interventions are mainly used in clinical practice to treat pain associated with epilepsy.Non-pharmacological treatments,such as a ketogenic diet,gene therapy for nerve regeneration,and neural regulation,are currently areas of research focus.This review provides a comprehensive overview of the pathogenesis,diagnostic methods,and treatments of epilepsy.It also elaborates on the theoretical basis,treatment modes,and effects of invasive nerve stimulation in neurotherapy,including percutaneous vagus nerve stimulation,deep brain electrical stimulation,repetitive nerve electrical stimulation,in addition to non-invasive transcranial magnetic stimulation and transcranial direct current stimulation.Numerous studies have shown that electromagnetic stimulation-mediated neuromodulation therapy can markedly improve neurological function and reduce the frequency of epileptic seizures.Additionally,many new technologies for the diagnosis and treatment of epilepsy are being explored.However,current research is mainly focused on analyzing patients’clinical manifestations and exploring relevant diagnostic and treatment methods to study the pathogenesis at a molecular level,which has led to a lack of consensus regarding the mechanisms related to the disease.
文摘In this article,we discuss Ye et al's recent article on the association between age at diabetes diagnosis and subsequent risk of age-related ocular diseases.The study,which utilized United Kingdom Biobank data,highlighted a strong link between early diabetes onset and major eye conditions,such as cataracts,glaucoma,agerelated macular degeneration,and vision loss,independent of glycemic control and disease duration.This finding challenges the previous belief that diabetic eye disease primarily correlates with hyperglycemia.As lifestyles evolve and the age of diabetes diagnosis decreases,understanding this relationship may reveal the complex pathogenesis underlying diabetes-related complications.This editorial summarizes potential mechanisms connecting the age of diabetes onset with four types of ocular diseases,emphasizing the significance of early diagnosis.
文摘Anorectal melanoma is a rare tumor representing less than 1% of anorectal cancers and around 0.3% of malignant melanomas. Its prognosis is particularly poor due to the early occurrence of metastases. We report the case of a 65-year-old man presenting with rectorrhagia and anal pain, initially diagnosed as hemorrhoidal disease. Subsequent proctological examination revealed an ulcerating-bourging tumor, confirmed histologically as an anorectal melanoma. After a normal extension workup, an abdominoperineal amputation was performed. Anorectal melanoma is a pathology with a poor prognosis, requiring early diagnosis to improve chances of survival.
文摘Accurate medical diagnosis,which involves identifying diseases based on patient symptoms,is often hindered by uncertainties in data interpretation and retrieval.Advanced fuzzy set theories have emerged as effective tools to address these challenges.In this paper,new mathematical approaches for handling uncertainty in medical diagnosis are introduced using q-rung orthopair fuzzy sets(q-ROFS)and interval-valued q-rung orthopair fuzzy sets(IVq-ROFS).Three aggregation operators are proposed in our methodologies:the q-ROF weighted averaging(q-ROFWA),the q-ROF weighted geometric(q-ROFWG),and the q-ROF weighted neutrality averaging(qROFWNA),which enhance decision-making under uncertainty.These operators are paired with ranking methods such as the similarity measure,score function,and inverse score function to improve the accuracy of disease identification.Additionally,the impact of varying q-rung values is explored through a sensitivity analysis,extending the analysis beyond the typical maximum value of 3.The Basic Uncertain Information(BUI)method is employed to simulate expert opinions,and aggregation operators are used to combine these opinions in a group decisionmaking context.Our results provide a comprehensive comparison of methodologies,highlighting their strengths and limitations in diagnosing diseases based on uncertain patient data.
文摘Upper gastrointestinal bleeding (UGIB) refers to the bleeding caused by the digestive tract above the flexor ligament, including esophageal, gastric, duodenal, pancreatic and biliary diseases, and lesions after gastrojejunostomy. UGIB is one of the common diseases in the clinical work of gastroenterology. There are many causes that can lead to upper gastrointestinal bleeding, which are mainly divided into two categories: one is non-variceal upper gastrointestinal bleeding (NVUGIB), and the other is variceal upper gastrointestinal bleeding (VUGIB). This article reviews various causes of UGIB and the latest progress in treatment, aiming to improve the efficiency of diagnosis and treatment in future clinical work, and reduce the risk of rebleeding and mortality.
文摘Port structures constitute the main link in the maritime transport chain of coastal countries and therefore contribute to their economic development. But it should be noted that the installation of said works is not without consequences for the countries concerned. Benin, a country in the Gulf of Guinea, is no exception to this phenomenon because, due to its maritime history, it has a heritage of port structures. These structures, built on its coastline, cause a wide variety of environmental problems such as silting and erosion on either side of them. The general objective of this article is to contribute to the proper functionality of port facilities while minimizing environmental problems that may arise. It aims to provide managers with a tool allowing them to fully understand the state of their assets in order to rationalize maintenance actions. In order to achieve this objective, an assessment of the state of the structure, and then a structural diagnosis are necessary and recommendations can be established to restore the level of service of the latter. As a result, two examples were presented: the wharf of the Sèmè-Podji pipeline project and the maritime piles project of the Wasco de Gama bridge (control project), and recommendations adapted to this objective were established. The comparative analysis of the two examples, both maritime works, revealed an under-sizing at the level of the spans of the wharf bridge of the Sèmè-Podji pipeline project (spans of 7 m in length), while these spans vary on average by 45 m to 62 m for the Wasco da Gama bridge. Bringing the piles closer together at the Sèmè-Podji wharf reduces the energy of the current which promotes the accumulation of sediment. The structure no longer experiences a flow capable of setting in motion the sands accumulated since at least 2022. This element appears to be a fundamental characteristic explaining the erosion observed to the east of the structure.
文摘Context: The presence of conjoined twins is a rare occurrence during pregnancy. Today, early diagnosis is possible thanks to advances in imaging, particularly three-dimensional ultrasound, and the intervention of a trained operator. This antenatal diagnosis can be used to decide whether or not to continue the pregnancy. Cases presentation: Based on the authors’ experience, five (05) cases of conjoined twins were collected over a period of six years (01 January 2018-01 January 2023) in the maternity wards of the Angre’s Teaching Hospital (study location), whose diagnosis was sometimes unexpected in the delivery room. Among the five cases, we described three (03) thoraco-omphalopages and two (02) parapages, with a female predominance of 4/5. None were candidates for separation because they were stillborn or died on the first day of life. Conclusion: This series of cases highlights the different characteristics of conjoined twins and the poor fetal prognosis due to diagnostic difficulties and therapeutic possibilities that are practically non-existent in the African environment.
文摘Post-traumatic stress disorder is a mental disorder caused by exposure to severe traumatic life events.Currently,there are no validated biomarkers or laboratory tests that can distinguish between trauma survivors with and without post-traumatic stress disorder.In addition,the heterogeneity of clinical presentations of post-traumatic stress disorder and the overlap of symptoms with other conditions can lead to misdiagnosis and inappropriate treatment.Evidence suggests that this condition is a multisystem disorder that affects many biological systems,raising the possibility that peripheral markers of disease may be used to diagnose post-traumatic stress disorder.We performed a PubMed search for microRNAs(miRNAs)in post-traumatic stress disorder(PTSD)that could serve as diagnostic biomarkers and found 18 original research articles on studies performed with human patients and published January 2012 to December 2023.These included four studies with whole blood,seven with peripheral blood mononuclear cells,four with plasma extracellular vesicles/exosomes,and one with serum exosomes.One of these studies had also used whole plasma.Two studies were excluded as they did not involve microRNA biomarkers.Most of the studies had collected samples from adult male Veterans who had returned from deployment and been exposed to combat,and only two were from recently traumatized adult subjects.In measuring miRNA expression levels,many of the studies had used microarray miRNA analysis,miRNA Seq analysis,or NanoString panels.Only six studies had used real time polymerase chain reaction assay to determine/validate miRNA expression in PTSD subjects compared to controls.The miRNAs that were found/validated in these studies may be considered as potential candidate biomarkers for PTSD and include miR-3130-5p in whole blood;miR-193a-5p,-7113-5p,-125a,-181c,and-671-5p in peripheral blood mononuclear cells;miR-10b-5p,-203a-3p,-4488,-502-3p,-874-3p,-5100,and-7641 in plasma extracellular vesicles/exosomes;and miR-18a-3p and-7-1-5p in blood plasma.Several important limitations identified in the studies need to be taken into account in future studies.Further studies are warranted with war veterans and recently traumatized children,adolescents,and adults having PTSD and use of animal models subjected to various stressors and the effects of suppressing or overexpressing specific microRNAs.
文摘Dear Editor,We are writing this letter to report a special missed diagnosis case of pediatric ocular trauma with intraorbital pencil core foreign body.When an eye trauma occurs,orbital foreign bodies are widespread.The most common types of foreign bodies are metal,followed by plant foreign bodies,while oil foreign bodies are rare.
文摘We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies were performed with whole blood,4 with blood plasma,5 with blood serum,1 with serum neural cell adhesion molecule L1-captured extracellular vesicles,1 with blood cells,and 2 with peripheral blood mononuclear cells.Most of the studies involved children and the study cohorts were largely males.Many of the studies had performed microRNA sequencing or quantitative polymerase chain reaction assays to measure microRNA expression.Only five studies had used real-time polymerase chain reaction assay to validate microRNA expression in autism spectrum disorder subjects compared to controls.The microRNAs that were validated in these studies may be considered as potential candidate biomarkers for autism spectrum disorder and include miR-500a-5p,-197-5p,-424-5p,-664a-3p,-365a-3p,-619-5p,-664a-3p,-3135a,-328-3p,and-500a-5p in blood plasma and miR-151a-3p,-181b-5p,-320a,-328,-433,-489,-572,-663a,-101-3p,-106b-5p,-19b-3p,-195-5p,and-130a-3p in blood serum of children,and miR-15b-5p and-6126 in whole blood of adults.Several important limitations were identified in the studies reviewed,and need to be taken into account in future studies.Further studies are warranted with children and adults having different levels of autism spectrum disorder severity and consideration should be given to using animal models of autism spectrum disorder to investigate the effects of suppressing or overexpressing specific microRNAs as a novel therapy.
基金supported by Chengdu University of Traditional Chinese Medicine“Xinglin Scholars”Subject Talent Scientific Research Enhancement Plan(No.YYZX2022056).
文摘Objective:To explore the application value of artificial intelligence-assisted diagnostic systems in the computed tomography(CT)diagnosis of pulmonary nodules.Methods:A total of 80 patients with pulmonary nodules,treated from June 2023 to May 2024,were included.All patients underwent pathological examination and CT scans,with pathological results serving as the gold standard.The diagnostic performance of CT alone and CT combined with the artificial intelligence-assisted diagnostic system was analyzed,and differences in CT imaging features and evaluation results of benign and malignant pulmonary nodules were compared.Results:The sensitivity,specificity,and accuracy of CT combined with the artificial intelligence-assisted diagnostic system were significantly higher than those of CT alone(P<0.05).Moreover,the false-positive and false-negative rates were significantly lower for the combined approach compared to CT alone(P<0.05).Conclusion:The artificial intelligence-assisted diagnostic system effectively identifies malignant features in pulmonary nodules,providing valuable clinical reference data and enhancing diagnostic accuracy and efficiency.
基金Supported by the Zhejiang Province Medicine and Health Science and Technology Program,No.2023KY980Hangzhou Municipal Health and Family Planning Commission,No.A20220133.
文摘BACKGROUND Phelan-McDermid syndrome(PMS)is a rare genetic disorder characterized by intellectual disability,delayed language development,autism spectrum disorders,motor tone abnormalities,and a high risk of psychiatric symptoms,including bipolar disorder.CASE SUMMARY This report presented an 18-year clinical history of a 36-year-old woman with PMS,marked by intellectual disabilities,social withdrawal,and stereotyped behaviors.Diagnosed with bipolar disorder at the age of 18 years old,she encountered significant treatment challenges,including severe adverse reactions to antipsychotic medications in 2022,which led to speech and functional regression.Through rehabilitation and comprehensive therapy,her condition gradually improved.In 2024,after further treatment,her symptoms stabilized,highlighting the complexities and successes of long-term management.CONCLUSION Effective management of PMS requires a thorough clinical history,genetic testing,and long-term supportive care.
基金Supported by the Chongqing Fundamental Research Funds,No.jbky20210001Performance Incentive-oriented Project of Chongqing,No.jxjl20220006。
文摘Internal herniation(IH)refers to the movement of intra-abdominal organs or tissues out of their original position through normal or abnormal orifices and fissures in the peritoneum or mesentery and into an anatomic space within the abdominal cavity.Although the incidence of small bowel obstruction(SBO)caused by IH is very low(approximately 0.2%to 0.9%),its incidence may be increased in certain specific populations or in postoperative patients.Recently Kaw et al shared their 13-year experience of managing IHs in a tertiary care hospital in India.This retrospective study analyzed and determined the clinico-demographic profiles,radiological and operative findings and postoperative course of patients with IH and the association with SBO.The results provide valuable insights into early diagnosis and establishment of a timely treatment regimen for this condition and emphasize the importance of combining rapid imaging evaluation with the traditional therapeutic approach of laparoscopic surgery,thus providing a novel perspective on the diagnosis and treatment of SBO caused by IH.
基金This study received financial support from the Jilin Province Health and Technology Capacity Enhancement Project(Project Number:222Lc132).
文摘Objective: This study investigates the auxiliary role of resting-state electroencephalography (EEG) in the clinical diagnosis of attention-deficit hyperactivity disorder (ADHD) using machine learning techniques. Methods: Resting-state EEG recordings were obtained from 57 children, comprising 28 typically developing children and 29 children diagnosed with ADHD. The EEG signal data from both groups were analyzed. To ensure analytical accuracy, artifacts and noise in the EEG signals were removed using the EEGLAB toolbox within the MATLAB environment. Following preprocessing, a comparative analysis was conducted using various ensemble learning algorithms, including AdaBoost, GBM, LightGBM, RF, XGB, and CatBoost. Model performance was systematically evaluated and optimized, validating the superior efficacy of ensemble learning approaches in identifying ADHD. Conclusion: Applying machine learning techniques to extract features from resting-state EEG signals enabled the development of effective ensemble learning models. Differential entropy and energy features across multiple frequency bands proved particularly valuable for these models. This approach significantly enhances the detection rate of ADHD in children, demonstrating high diagnostic efficacy and sensitivity, and providing a promising tool for clinical application.
