Movement analysis in the diagnosis and management of Parkinson’s disease

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).

Visualizing traumatic brain injury:ocular clues for diagnosis and assessment

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.

Herpes simplex virus 2-induced aseptic meningitis presenting with sudden deafness:A case report

BACKGROUND Aseptic meningitis is defined as meningeal inflammation caused by various etio-logies with negative cerebrospinal fluid(CSF)bacterial culture.The most common etiologies are viruses[enteroviruses,arboviruses,and herpes simplex virus type 2(HSV-2)].Aseptic meningitis can have various presentations,including sensori-neural deafness.While sensorineural deafness from mumps meningoencephalitis has been reported,cases of HSV-2-induced hearing loss are rare.Herein,we re-port a case of HSV-2-induced meningitis that presented with sudden deafness.CASE SUMMARY A 68-year-old man experienced a profound sudden onset of left-sided hearing loss for one day.Pure-tone audiograms demonstrated sudden left-sided sensorineural hearing loss(thresholds 80-90 dB).After treatment with high-dose steroids for 1 week,he experienced an acute consciousness change with left hemiparesis.The laboratory data showed no significant abnormalities.Brain computed tomography without contrast and magnetic resonance imaging revealed no intracranial hemo-rrhage or obvious brain lesion.The CSF analysis and the Multiplex PCR panels showed HSV-2 positivity.Hence,under the diagnosis of herpes meningoenceph-alitis,acyclovir was prescribed and his symptoms gradually resolved.CONCLUSION This case report further demonstrates that a viral infection could be a cause of sudden sensorineural hearing loss.

Pathogenesis, diagnosis, and treatment of epilepsy: electromagnetic stimulation-mediated neuromodulation therapy and new technologies

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.

Association between age at diagnosis of diabetes and ocular disease:Insights from a recent article

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.

Medical Diagnosis Based on Multi-Attribute Group Decision-Making Using Extension Fuzzy Sets,Aggregation Operators and Basic Uncertainty Information Granule

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.

MicroRNAs as potential biomarkers for diagnosis of post-traumatic stress disorder

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.

Periocular skin“tattooing”caused by gel pen pigment mistaken for periorbital bruising:a case of missed diagnosis of traumatic intraorbital pen core foreign body

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.

Advancements in non-invasive diagnosis of gastric cancer

Gastric cancer(GC),a multifaceted and highly aggressive malignancy,represents challenging healthcare burdens globally,with a high incidence and mortality rate.Although endoscopy,combined with histological examination,is the gold stan-dard for GC diagnosis,its high cost,invasiveness,and specialized requirements hinder widespread use for screening.With the emergence of innovative techno-logies such as advanced imaging,liquid biopsy,and breath tests,the landscape of GC diagnosis is poised for radical transformation,becoming more accessible,less invasive,and more efficient.As the non-invasive diagnostic techniques continue to advance and undergo rigorous clinical validation,they hold the promise of sig-nificantly impacting patient outcomes,ultimately leading to better treatment results and improved quality of life for patients with GC.

Autism spectrum disorder:difficulties in diagnosis and microRNA biomarkers

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.

Multiple endocrine neoplasia type 1:Early diagnosis is very important

In this manuscript,we comment on a recent publication by Yuan et al.This article provides a detailed scientific diagnostic process for a multiple endocrine neo-plasia type 1 patient,thus offering strong guidance for clinical practice.However,we believe that the authors should also provide information on the patient's long-term prognosis.

Histopathological diagnosis of microvascular invasion in hepatocellular carcinoma:Is it reliable?

BACKGROUND Microvascular invasion(MVI)is a critical prognostic factor for postoperative hepatocellular carcinoma recurrence,but the reliability of its current pathological diagnosis remains uncertain.AIM To evaluate the accuracy of current 7-point sampling methods and propose an optimal pathological protocol using whole-mount slide imaging(WSI)for better MVI detection.METHODS We utilized 40 New Zealand white rabbits to establish VX2 liver tumor models.The entire tumor-containing liver lobe was subsequently obtained,following which five different sampling protocols(A-E)were employed to evaluate the detection rate,accuracy,quantity,and distribution of MVI,with the aim of identifying the optimal sampling method.RESULTS VX2 liver tumor models were successfully established in 37 rabbits,with an incidence of MVI of 81.1%(30/37).The detection rates[27%(10/37),43%(16/37),62%(23/37),68%(25/37),and 93%(14/15)]and quantity(15,36,107,125,and 395)of MVI increased significantly from protocols A to E.The distribution of MVI showed fewer MVIs farther away from the tumor,but the percentage of MVI detected quantity gradually increased from 6.7%to 48.3%in the distant nonneoplastic liver tissue from protocols A to E.Protocol C was identified as the optimal sampling method by comparing them in sequence.The sampling protocol of three consecutive interval WSIs at the tumor center(WSI3)was further screened to determine the optimal number of WSIs.Protocol A(7-point sampling method)exhibited only 46%accuracy and a high false-negative rate of 67%.Notably,the WSI3 protocol improved the accuracy to 78%and decreased the false-negative rate to 27%.CONCLUSION The current 7-point sampling method has a high false-negative rate in MVI detection.In contrast,the WSI3 protocol provides a practical and effective approach to improve MVI diagnostic accuracy,which is crucial for hepatocellular carcinoma diagnosis and treatment planning.

A Power Battery Fault Diagnosis Method Based on Long-Short Term Memory-Back Propagation

The lithium battery is an essential component of electric cars;prompt and accurate problem detection is vital in guaranteeing electric cars’safe and dependable functioning and addressing the limitations of Back Propagation(BP)neural networks in terms of vanishing gradients and inability to effectively capture dependencies in time series,and the limitations of Long-Short Term Memory(LSTM)neural network models in terms of risk of overfitting.A method based on LSTM-BP is put forward for power battery fault diagnosis to improve the accuracy of lithium battery fault diagnosis.First,a lithium battery model is constructed based on the second-order RC equivalent circuit and the electro-thermal coupling model,and various lithium battery failures are simulated to examine the fault characteristics.Then,the lithium battery charging and discharging experiments collect,clean,and process the battery data.By constructing a neural network LSTM-BP model,we verified the superiority and accuracy of the LSTM-BP neural network model by comparing the LSTM model and BP model vertically and by comparing the Recurrent Neural Network(RNN)model,the Gated Recurrent Unit(GRU)model,and the Residual Neural Network(ResNet)model of a more advanced architecture horizontally.Finally,the lithium battery fault diagnosis process is summarized through the threshold quantitative criteria,and different faults are diagnosed and analyzed.Theresults show that the LSTM-BP neural network not only overcomes the limitations of the LSTMneural network and BP neural network but also improves the ability to process sequence data and reduces the risk of overfitting.

Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome:A case report and review of literature

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.

Small bowel obstruction due to intra-abdominal hernia:New thoughts on diagnosis and treatment

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.

Clinical metagenomic sequencing for rapid diagnosis of pneumonia and meningitis caused by Chlamydia psittaci

BACKGROUND Chlamydia psittaci(C.psittaci)is a gram-negative intracellular parasitic pathogenic bacterium that can infect avian and mammalian hosts,including humans.The detection of C.psittaci infections typically relies on traditional antigen-based immunoassays or serological testing that often lack sensitivity and/or specificity.Metagenomic next generation sequencing(mNGS)is an emerging tool for diagnosis.AIM To demonstrate that mNGS represents a valuable tool for rapid,sensitive,and accurate pathogen detection including C.psittaci infections.METHODS Four cases of psittacosis pneumonia and one case of pediatric psittacosis meningitis were diagnosed between December 2019 and May 2020 using mNGS at Changzhou Second People’s Hospital affiliated to Nanjing Medical University.Patients’clinical characteristics,manifestations,and treatment histories were retrospectively evaluated.RESULTS All five patients had a history of exposure to wild(psittacine or other birds)or domesticated birds(chickens).All patients had a high fever(>39℃)and three of them(60%)experienced organ insufficiency during the disease.The laboratory data showed normal to slightly increased leucocyte and neutrophil counts,and elevated procalcitonin levels in all five cases,and very high C-reactive protein levels in psittacosis pneumonia patients.mNGS identified a potential pathogen,C.psittaci,in patients’bronchoalveolar lavage fluid or cerebrospinal fluid.Computed tomography revealed lung air-space consolidation,pleural thickening,and effusion fluid buildup in psittacosis pneumonia cases,and an arachnoid cyst in the right temporal lobe of the pediatric psittacosis meningitis patient.All patients experienced complete recovery following the administration of targeted antichlamydia therapy.CONCLUSION This study not only demonstrated that mNGS represents a valuable tool for rapid,sensitive,and accurate pathogen detection,but also raised public health concerns over C.psittaci infections.

Diagnosis of disease-specific proteins in cerebrospinal fluid of children infected with tuberculous meningitis

BACKGROUND： Isolated mycobacterium tuberculosis from cerebrospinal fluid （CSF） is regarded as the ＂gold standard＂ for diagnosis of tuberculous meningitis （TBM）. However, culture of CSF specimens is time-consuming and lacks sensitivity. There is a strong need to determine complementary disease-specific markers, which are essential for increasing early diagnosis and improving prognosis in patients with TBM OBJECTIVE： To establish proteomic profiles of CSF in TBM and normal children using two-dimensional polyacrylamide gel electrophoresis, and to screen for disease-specific proteins. DESIGN, TIME AND SETTING： The case-control study was conducted at the Department of Pediatrics, Xiangya Hospital of Central South University and the Key Laboratory of Cancer Proteomics of Ministry of Public Health of China between January 2008 and January 2009. PARTICIPANTS： The TBM group included three patients with a strongly positive tuberculin skin test, as well as positive CSF mycobacterial staining and culture, who were admitted to the Department of Pediatrics, Xiangya Hospital from January 2008 to January 2009. Three healthy, age- and gender-matched children served as the control group. METHODS： CSF proteins were separated using two-dimensional polyacrylamide gel electrophoresis in both groups. Gels were scanned using Image scanner and LabScan software. Differentially expressed proteins were analyzed using PDQuest 7.0 software. The clearly discernible spots, which were expressed only in the TBM group, were chosen to perform matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis. MAIN OUTCOME MEASURES： Differentially expressed spots on CSF profiles of TBM and normal children were measured. RESULTS： Following comparison of two-dimensional polyacrylamide gel electrophoresis maps between TBM and control groups, 546 and 533 spots were detected, respectively. A total of 64 differentially expressed proteins were observed between the groups, including 15 upregulated spots, eight downregulated spots, 27 spots that were exclusively expressed in the TBM group, and 14 spots that were exclusively expressed in the control group. At total of 20 spots that were exclusively expressed in the TBM group were chosen for matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis, and 20 peptide mass fingerprints were obtained. After searching the data base, 16 proteins were matched. CONCLUSION： Two-dimensional polyacrylamide gel electrophoresis profiles of the CSF proteome were successfully established in the TBM and normal children. Parts of these differentially expressed proteins were identified through mass spectrometry and bioinformatics. Results indicated that apolipoprotein A I, anti-tumor necrosis factor-alpha antibody, crystal structure of MRP14 and HLA class II histocompatibility antigen DRB1-4 could be closely correlated with TBM pathogenesis.

Laboratory Diagnosis of Bacterial Meningitis in a Patient with COVID-19

Against the background of a COVID-19 infection, the overlap of bacterial coinfection is associated with an increased risk of poor treatment outcomes. A 76-year-old man was treated for ischemic stroke in the period of one week. During his hospital stay, he showed symptoms of a viral infection, due to which a PCR sample was taken for SARS-CoV-2. The test result was positive. Meningoencephalitis is suspected on the basis of the clinical symptoms shown and the initial blood test. K. pneumonia was detected by a cerebrospinal fluid (CSF) microbiological examination. The risk of bacterial coinfection with COVID-19 remains unclear. Timely and rapid diagnosis and treatment of bacterial meningitis, in the context of a proven COVID-19 infection, require a variety of biological tests and a multidisciplinary approach. In the early stages of acute bacterial and viral meningitis, the signs and symptoms are often nonspecific and it is not always possible to make a differential diagnosis. Laboratory tests, characterizing COVID-19, should determine the type, prognosis, and outcome of a bacterial coinfection. Refining the laboratory diagnosis of a bacterial infection with COVID-19 is a new challenge for doctors.

A Case of Meningitis? What’s Your Diagnosis?

The five year old, somnolent girl from Mozambique with no medical history was presented with fever, neckstiffness, headaches, an almost complete paraplegia and a septic picture. Malaria parasites and HIV testing was negative. The lumbal puncture revealed staphylococcus. Subsequently a MRI scan showed no sign of meningitis but an extensive posterior epidural collection from C3 to the level of S1. Moreover it showed a vertebral osteomyelitis at L1. Bacteria in CSF were seen as an artefact and the child was treated by multilevel (purely) epidural punctures with drainage, rinsing and instillation of ceftriaxon. The epidural puncture proved acid fast bacilli in the pus, so that an anti-tuberculotic therapy was given. The child recovered quickly from sepsis and was able to walk several steps without help after three months.

Stage at diagnosis of colorectal cancer through diagnostic route:Who should be screened?

BACKGROUND Colorectal cancer(CRC)is a global health concern,with advanced-stage diagnoses contributing to poor prognoses.The efficacy of CRC screening has been well-established;nevertheless,a significant proportion of patients remain unscreened,with>70%of cases diagnosed outside screening.Although identifying specific subgroups for whom CRC screening should be particularly recommended is crucial owing to limited resources,the association between the diagnostic routes and identification of these subgroups has been less appreciated.In the Japanese cancer registry,the diagnostic routes for groups discovered outside of screening are primarily categorized into those with comorbidities found during hospital visits and those with CRC-related symptoms.AIM To clarify the stage at CRC diagnosis based on diagnostic routes.METHODS We conducted a retrospective observational study using a cancer registry of patients with CRC between January 2016 and December 2019 at two hospitals.The diagnostic routes were primarily classified into three groups:Cancer screening,follow-up,and symptomatic.The early-stage was defined as Stages 0 or I.Multivariate and univariate logistic regressions were exploited to determine the odds of early-stage diagnosis in the symptomatic and cancer screening groups,referencing the follow-up group.The adjusted covariates were age,sex,and tumor location.RESULTS Of the 2083 patients,715(34.4%),1064(51.1%),and 304(14.6%)belonged to the follow-up,symptomatic,and cancer screening groups,respectively.Among the 2083 patients,CRCs diagnosed at an early stage were 57.3%(410 of 715),23.9%(254 of 1064),and 59.5%(181 of 304)in the follow-up,symptomatic,and cancer screening groups,respectively.The symptomatic group exhibited a lower likelihood of early-stage diagnosis than the follow-up group[P<0.001,adjusted odds ratio(aOR),0.23;95%confidence interval(95%CI):0.19-0.29].The likelihood of diagnosis at an early stage was similar between the follow-up and cancer screening groups(P=0.493,aOR for early-stage diagnosis in the cancer screening group vs follow-up group=1.11;95%CI=0.82-1.49).CONCLUSION CRCs detected during hospital visits for comorbidities were diagnosed earlier,similar to cancer screening.CRC screening should be recommended,particularly for patients without periodical hospital visits for comorbidities.