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Advances in Computational Biology for Diagnosing Neurodegenerative Diseases: A Comprehensive Review.Zhongguo Ying Yong Sheng Li Xue Za Zhi... Jul 2024The numerous and varied forms of neurodegenerative illnesses provide a considerable challenge to contemporary healthcare. The emergence of artificial intelligence has... (Review)
Review
The numerous and varied forms of neurodegenerative illnesses provide a considerable challenge to contemporary healthcare. The emergence of artificial intelligence has fundamentally changed the diagnostic picture by providing effective and early means of identifying these crippling illnesses. As a subset of computational intelligence, machine-learning algorithms have become very effective tools for the analysis of large datasets that include genetic, imaging, and clinical data. Moreover, multi-modal data integration, which includes information from brain imaging (MRI, PET scans), genetic profiles, and clinical evaluations, is made easier by computational intelligence. A thorough knowledge of the course of the illness is made possible by this consolidative method, which also facilitates the creation of predictive models for early medical evaluation and outcome prediction. Furthermore, there has been a great deal of promise shown by the use of artificial intelligence to neuroimaging analysis. Sophisticated image processing methods combined with machine learning algorithms make it possible to identify functional and structural anomalies in the brain, which often act as early indicators of neurodegenerative diseases. This chapter examines how computational intelligence plays a critical role in improving the diagnosis of neurodegenerative diseases such as Parkinson's, Alzheimer's, etc. To sum up, computational intelligence provides a revolutionary approach for improving the identification of neurodegenerative illnesses. In the battle against these difficult disorders, embracing and improving these computational techniques will surely pave the path for more individualized therapy and more therapies that are successful.
Topics: Humans; Neurodegenerative Diseases; Computational Biology; Neuroimaging; Machine Learning; Algorithms; Artificial Intelligence; Brain; Image Processing, Computer-Assisted; Magnetic Resonance Imaging
PubMed: 38952174
DOI: 10.62958/j.cjap.2024.008 -
Breast Cancer Research : BCR Jun 2024HER3, a member of the EGFR receptor family, plays a central role in driving oncogenic cell proliferation in breast cancer. Novel HER3 therapeutics are showing promising...
PURPOSE
HER3, a member of the EGFR receptor family, plays a central role in driving oncogenic cell proliferation in breast cancer. Novel HER3 therapeutics are showing promising results while recently developed HER3 PET imaging modalities aid in predicting and assessing early treatment response. However, baseline HER3 expression, as well as changes in expression while on neoadjuvant therapy, have not been well-characterized. We conducted a prospective clinical study, pre- and post-neoadjuvant/systemic therapy, in patients with newly diagnosed breast cancer to determine HER3 expression, and to identify possible resistance mechanisms maintained through the HER3 receptor.
EXPERIMENTAL DESIGN
The study was conducted between May 25, 2018 and October 12, 2019. Thirty-four patients with newly diagnosed breast cancer of any subtype (ER ± , PR ± , HER2 ±) were enrolled in the study. Two core biopsy specimens were obtained from each patient at the time of diagnosis. Four patients underwent a second research biopsy following initiation of neoadjuvant/systemic therapy or systemic therapy which we define as neoadjuvant therapy. Molecular characterization of HER3 and downstream signaling nodes of the PI3K/AKT and MAPK pathways pre- and post-initiation of therapy was performed. Transcriptional validation of finings was performed in an external dataset (GSE122630).
RESULTS
Variable baseline HER3 expression was found in newly diagnosed breast cancer and correlated positively with pAKT across subtypes (r = 0.45). In patients receiving neoadjuvant/systemic therapy, changes in HER3 expression were variable. In a hormone receptor-positive (ER +/PR +/HER2-) patient, there was a statistically significant increase in HER3 expression post neoadjuvant therapy, while there was no significant change in HER3 expression in a ER +/PR +/HER2+ patient. However, both of these patients showed increased downstream signaling in the PI3K/AKT pathway. One subject with ER +/PR -/HER2- breast cancer and another subject with ER +/PR +/HER2 + breast cancer showed decreased HER3 expression. Transcriptomic findings, revealed an immune suppressive environment in patients with decreased HER3 expression post therapy.
CONCLUSION
This study demonstrates variable HER3 expression across breast cancer subtypes. HER3 expression can be assessed early, post-neoadjuvant therapy, providing valuable insight into cancer biology and potentially serving as a prognostic biomarker. Clinical translation of neoadjuvant therapy assessment can be achieved using HER3 PET imaging, offering real-time information on tumor biology and guiding personalized treatment for breast cancer patients.
Topics: Humans; Female; Breast Neoplasms; Neoadjuvant Therapy; Middle Aged; Receptor, ErbB-3; Prospective Studies; Adult; Aged; Biomarkers, Tumor; Receptor, ErbB-2; Receptors, Estrogen; Gene Expression Regulation, Neoplastic; Signal Transduction; Positron-Emission Tomography
PubMed: 38951909
DOI: 10.1186/s13058-024-01859-w -
Journal of Cardiothoracic Surgery Jul 2024In patients with unprotected left main coronary artery disease (ULMCAD), this study compared the long-term prognosis of drug-eluting stent insertion guided by...
BACKGROUND
In patients with unprotected left main coronary artery disease (ULMCAD), this study compared the long-term prognosis of drug-eluting stent insertion guided by intravascular ultrasonography (IVUS) vs. angiography.
PATIENTS AND METHODS
This retrospective consort investigation was performed in December 2021. This analysis included 199 patients who underwent IVUS-guided (IVUS group, n = 81) or angiography-guided (angiography group, n = 118) drug-eluting stent implantation at the Affiliated Hospital of Inner Mongolia Medical University between September 2013 and September 2018. Major adverse cardiac events (MACE) were defined as cardiovascular death, sudden cardiac death, myocardial infarction.
RESULTS
The IVUS group had considerably lower proportions of MACE within 1 year postoperatively (P = 0.002) and cardiac mortality within 3 years postoperatively (P = 0.018) compared to the angiography group. However, after adjusting for confounding variables, the hazard ratio for 3-year cardiac mortality was similar between the two groups (P = 0.28). In the IVUS group, there was considerably greater minimum lumen diameter (MLD) (P = 0.046), and reduced frequencies of target vessel restenosis (P < 0.050) and myocardial infarction (MI) (P = 0.024) compared to the angiography group. Cox regression analysis for 3-year cardiac mortality found that MSD was independently associated with low cardiac mortality (HR = 0.1, 95% CI: 0.01-14.92, P = 0.030).
CONCLUSION
IVUS-guided drug-eluting stent implantation may lead to better long-term prognosis in patients with ULMCAD, and MSD may be a predictor for lower cardiac mortality.
Topics: Humans; Drug-Eluting Stents; Male; Female; Ultrasonography, Interventional; Retrospective Studies; Coronary Artery Disease; Coronary Angiography; Middle Aged; Aged; Percutaneous Coronary Intervention; Treatment Outcome
PubMed: 38951893
DOI: 10.1186/s13019-024-02800-0 -
Journal of Orthopaedic Surgery and... Jul 2024In recent years, the use of tapered-wedge short stems has increased due to their ability to preserve bones and tendons. Surgical techniques occasionally result in a...
BACKGROUND
In recent years, the use of tapered-wedge short stems has increased due to their ability to preserve bones and tendons. Surgical techniques occasionally result in a varus position of the stem, which is particularly pronounced in short stems. Although the varus position is not clinically problematic, there are reports of an increased incidence of stress shielding and cortical hypertrophy. Thus, we evaluated and examined the acceptable range of varus angles using finite element analysis.
METHODS
Patients diagnosed with osteoarthritis of the hip joint who had undergone arthroplasty were selected and classified into three types [champagne-flute (type A), intermediate (type B), and stovepipe (type C)]. Finite element analysis was performed using Mechanical Finder. The model was created using a Taperloc microplasty stem with the varus angle increased by 1° from 0° to 5° from the bone axis and classified into seven zones based on Gruen's zone classification under loading conditions in a one-leg standing position. The volume of interest was set, the mean equivalent stress for each zone was calculated.
RESULTS
A significant decrease in stress was observed in zone 2, and increased stress was observed in zones 3 and 4, suggesting the emergence of a distal periosteal reaction, similar to the results of previous studies. In zone 2, there was a significant decrease in stress in all groups at a varus angle ≥ 3°. In zone 3, stress increased from ≥ 3° in type B and ≥ 4° in type C. In zone 4, there was a significant increase in stress at varus angles of ≥ 2° in types A and B and at ≥ 3° in type C.
CONCLUSION
In zone 2, the varus angle at which stress shielding above Engh classification grade 3 may appear is expected to be ≥ 3°. Distal cortical hypertrophy may appear in zones 3 and 4; the narrower the medullary cavity shape, the smaller the allowable angle of internal recession, and the wider the medullary cavity shape, the wider the allowable range. Long-term follow-up is required in patients with varus angles > 3°.
Topics: Humans; Finite Element Analysis; Stress, Mechanical; Hip Prosthesis; Arthroplasty, Replacement, Hip; Male; Female; Prosthesis Design; Aged; Osteoarthritis, Hip; Middle Aged
PubMed: 38951850
DOI: 10.1186/s13018-024-04856-z -
BMC Medicine Jul 2024Benzodiazepine use is common, particularly in older adults. Benzodiazepines have well-established acute adverse effects on cognition, but long-term effects on...
BACKGROUND
Benzodiazepine use is common, particularly in older adults. Benzodiazepines have well-established acute adverse effects on cognition, but long-term effects on neurodegeneration and dementia risk remain uncertain.
METHODS
We included 5443 cognitively healthy (MMSE ≥ 26) participants from the population-based Rotterdam Study (57.4% women, mean age 70.6 years). Benzodiazepine use from 1991 until baseline (2005-2008) was derived from pharmacy dispensing records, from which we determined drug type and cumulative dose. Benzodiazepine use was defined as prescription of anxiolytics (ATC-code: N05BA) or sedative-hypnotics (ATC-code: N05CD) between inception of pharmacy records and study baseline. Cumulative dose was calculated as the sum of the defined daily doses for all prescriptions. We determined the association with dementia risk until 2020 using Cox regression. Among 4836 participants with repeated brain MRI, we further determined the association of benzodiazepine use with changes in neuroimaging markers using linear mixed models.
RESULTS
Of all 5443 participants, 2697 (49.5%) had used benzodiazepines at any time in the 15 years preceding baseline, of whom 1263 (46.8%) used anxiolytics, 530 (19.7%) sedative-hypnotics, and 904 (33.5%) used both; 345 (12.8%) participants were still using at baseline assessment. During a mean follow-up of 11.2 years, 726 participants (13.3%) developed dementia. Overall, use of benzodiazepines was not associated with dementia risk compared to never use (HR [95% CI]: 1.06 [0.90-1.25]), irrespective of cumulative dose. Risk estimates were somewhat higher for any use of anxiolytics than for sedative-hypnotics (HR 1.17 [0.96-1.41] vs 0.92 [0.70-1.21]), with strongest associations for high cumulative dose of anxiolytics (HR [95% CI] 1.33 [1.04-1.71]). In imaging analyses, current use of benzodiazepine was associated cross-sectionally with lower brain volumes of the hippocampus, amygdala, and thalamus and longitudinally with accelerated volume loss of the hippocampus and to a lesser extent amygdala. However, imaging findings did not differ by type of benzodiazepines or cumulative dose.
CONCLUSIONS
In this population-based sample of cognitively healthy adults, overall use of benzodiazepines was not associated with increased dementia risk, but potential class-dependent adverse effects and associations with subclinical markers of neurodegeneration may warrant further investigation.
Topics: Humans; Female; Dementia; Male; Aged; Benzodiazepines; Middle Aged; Magnetic Resonance Imaging; Netherlands; Aged, 80 and over; Neuroimaging; Brain; Prospective Studies; Neurodegenerative Diseases; Hypnotics and Sedatives; Risk Factors
PubMed: 38951846
DOI: 10.1186/s12916-024-03437-5 -
European Journal of Medical Research Jul 2024Esophageal perforations are a complex clinical scenario that have been poorly studied. To date, there is no grading of esophageal perforations, the reason being that the...
OBJECTIVES
Esophageal perforations are a complex clinical scenario that have been poorly studied. To date, there is no grading of esophageal perforations, the reason being that the outcome is very heterogeneous, because the perforation is very heterogeneous. A grading of the severity of the perforation may guide treatment, and could ultimately affect morbidity and mortality.
METHODS
The observation period of the study was four years. All patients with a perforation of the esophagus aged 18 to 90 years were included. All anastomotic insufficiencies or fistulas after surgery of the esophagus were excluded. The cause of the injury and the time interval between the event and the start of therapy were analyzed. The severity of each perforation was classified based on the results of a diagnostic CT scan, gastroscopy as well as clinical and laboratory findings. Therapy and signs of infection were evaluated. Endpoints of the study were patient recovery or death. The study was conducted as a retrospective single-center study at a university hospital of Düsseldorf. The study has been approved by the review board. Patients gave their informed consent before data collection. All data were analyzed using SPSS 29 (IBM SPSS Statistics software).
RESULTS
Age, gender and cause of the esophageal perforation did not impact significantly on overall survival. The duration of injury > 24 h (p = 0.01), presence of mediastinitis (p = 0.01) and necrosis of the esophagus (p = 0.02) were associated with an unfavorable outcome. The correlation of the clinical grading of the severity of the perforation based on the endoscopic, radiological and clinical findings with the overall survival of patients was significant. Patients categorized into the four grades of severity (I-IV) had an overall survival of 100%, 100%, 70% and 50%, respectively.
CONCLUSION
The severity of esophageal perforations can be systematically rated grades I to IV based on the radiological, endoscopic and clinical findings at diagnosis. Due to the grading and its correlation to the overall survival, a comparison of patients, their treatment and outcome becomes possible. In future, the grade of a perforation may guide treatment, and therefore affect morbidity and mortality.
Topics: Humans; Esophageal Perforation; Male; Female; Middle Aged; Aged; Adult; Aged, 80 and over; Adolescent; Retrospective Studies; Young Adult
PubMed: 38951825
DOI: 10.1186/s40001-024-01910-8 -
BMC Cardiovascular Disorders Jul 2024Pulmonary embolisms (PEs) exhibit clinical features similar to those of acute coronary syndrome (ACS), including electrocardiographic abnormalities and elevated troponin... (Review)
Review
BACKGROUND
Pulmonary embolisms (PEs) exhibit clinical features similar to those of acute coronary syndrome (ACS), including electrocardiographic abnormalities and elevated troponin levels, which frequently lead to misdiagnoses in emergency situations.
CASE PRESENTATION
Here, we report a case of PE coinciding with chronic coronary syndrome in which the patient's condition was obscured by symptoms mimicking ACS. A 68-year-old female with syncope presented to the hospital. Upon admission, she was found to have elevated troponin levels and an electrocardiogram showing ST-segment changes across multiple leads, which initially led to a diagnosis of ACS. Emergency coronary arteriography revealed occlusion of the posterior branches of the left ventricle of the right coronary artery, but based on the complexity of the intervention, the occlusion was considered chronic rather than acute. On the 3rd day after admission, the patient experienced recurrent chest tightness and shortness of breath, which was confirmed as acute PE by emergency computed tomography pulmonary angiography. Following standardized anticoagulation treatment, the patient improved and was subsequently discharged.
CONCLUSIONS
This case report highlights the importance of recognizing the nonspecific features of PE. Clinicians should be vigilant when identifying other clinical features that are difficult to explain accompanying the expected disease, and it is necessary to carefully identify the causes to prevent missed diagnoses or misdiagnoses.
Topics: Humans; Pulmonary Embolism; Female; Aged; Acute Coronary Syndrome; Diagnosis, Differential; Predictive Value of Tests; Electrocardiography; Computed Tomography Angiography; Anticoagulants; Coronary Angiography; Chronic Disease; Treatment Outcome; Diagnostic Errors; Biomarkers
PubMed: 38951773
DOI: 10.1186/s12872-024-03998-6 -
BMC Oral Health Jun 2024This study investigated the effectiveness of a deep convolutional neural network (CNN) in diagnosing and staging caries lesions in quantitative light-induced...
OBJECTIVES
This study investigated the effectiveness of a deep convolutional neural network (CNN) in diagnosing and staging caries lesions in quantitative light-induced fluorescence (QLF) images taken by a self-manufactured handheld device.
METHODS
A small toothbrush-like device consisting of a 400 nm UV light-emitting lamp with a 470 nm filter was manufactured for intraoral imaging. A total of 133 cases with 9,478 QLF images of teeth were included for caries lesion evaluation using a CNN model. The database was divided into development, validation, and testing cohorts at a 7:2:1 ratio. The accuracy, sensitivity, specificity, positive predictive value, negative predictive value, and area under the receiver operating characteristic curve (AUC) were calculated for model performance.
RESULTS
The overall caries prevalence was 19.59%. The CNN model achieved an AUC of 0.88, an accuracy of 0.88, a specificity of 0.94, and a sensitivity of 0.64 in the validation cohort. They achieved an overall accuracy of 0.92, a sensitivity of 0.95 and a specificity of 0.55 in the testing cohort. The model can distinguish different stages of caries well, with the best performance in detecting deep caries followed by intermediate and superficial lesions.
CONCLUSIONS
Caries lesions have typical characteristics in QLF images and can be detected by CNNs. A QLF-based device with CNNs can assist in caries screening in the clinic or at home.
TRIAL REGISTRATION
The clinical trial was registered in the Chinese Clinical Trial Registry (No. ChiCTR2300073487, Date: 12/07/2023).
Topics: Humans; Dental Caries; Neural Networks, Computer; Female; Quantitative Light-Induced Fluorescence; Male; Adult; Sensitivity and Specificity; Middle Aged; Adolescent; Young Adult; ROC Curve
PubMed: 38951770
DOI: 10.1186/s12903-024-04517-x -
BMC Cancer Jul 2024Merkel cell carcinoma (MCC) is a rare, aggressive, cutaneous tumour with high mortality and frequently delayed diagnosis. Clinically, it often manifests as a rapidly... (Review)
Review
BACKGROUND
Merkel cell carcinoma (MCC) is a rare, aggressive, cutaneous tumour with high mortality and frequently delayed diagnosis. Clinically, it often manifests as a rapidly growing erythematous to purple nodule usually located on the lower extremities or face and scalp of elderly patients. There is limited available data on the dermoscopic findings of MCC, and there are no specific features that can be used to definitively diagnose MCC.
AIM OF THE STUDY
Here, we aimed to summarize existing published literature on dermatoscopic and reflectance confocal microscopy (RCM) features of MCC.
MATERIALS AND METHODS
To find relevant studies, we searched the PubMed and Scopus databases from inception to April 12, 2023. Our goal was to identify all pertinent research that had been written in English. The following search strategy was employed: (" dermoscopy" OR " dermatoscopy" OR " videodermoscopy" OR " videodermatoscopy" OR " reflectance confocal microscopy") AND " Merkel cell carcinoma". Two dermatologists, DK and GE, evaluated the titles and abstracts separately for eligibility. For inclusion, only works written in English were taken into account.
RESULTS
In total 16 articles were retrieved (68 cases). The main dermoscopic findings of MCC are a polymorphous vascular pattern including linear irregular, arborizing, glomerular, and dotted vessels on a milky red background, with shiny or non-shiny white areas. Pigmentation was lacking in all cases. The RCM images showed a thin and disarranged epidermis, and small hypo-reflective cells that resembled lymphocytes arranged in solid aggregates outlined by fibrous tissue in the dermis. Additionally, there were larger polymorphic hyper-reflective cells that likely represented highly proliferative cells.
CONCLUSION
Dermoscopic findings of MCC may play a valuable role in evaluating MCC, aiding in the early detection and differentiation from other skin lesions. Further prospective case-control studies are needed to validate these results.
Topics: Carcinoma, Merkel Cell; Humans; Dermoscopy; Skin Neoplasms; Microscopy, Confocal
PubMed: 38951767
DOI: 10.1186/s12885-024-12566-2 -
BMC Neurology Jul 2024Idiopathic acute transverse myelitis (IATM) is a focal inflammatory disorder of the spinal cord that results in motor, sensory, and autonomic dysfunction. However, the... (Comparative Study)
Comparative Study
BACKGROUND
Idiopathic acute transverse myelitis (IATM) is a focal inflammatory disorder of the spinal cord that results in motor, sensory, and autonomic dysfunction. However, the comparative analysis of MRI-negative and MRI-positive in IATM patients were rarely reported.
OBJECTIVES
The purpose of this study was to compare MRI-negative with MRI-positive groups in IATM patients, analyze the predictors for a poor prognosis, thus explore the relationship between MRI-negative and prognosis.
METHODS
We selected 132 patients with first-attack IATM at the First Affiliated Hospital of Nanchang University from May 2018 to May 2022. Patients were divided into MRI-positive and MRI-negative group according to whether there were responsible spinal MRI lesions, and good prognosis and poor prognosis based on whether the EDSS score ≥ 4 at follow-up. The predictive factors of poor prognosis in IATM patients was analyzed by logistic regression models.
RESULTS
Of the 132 patients, 107 first-attack patients who fulfilled the criteria for IATM were included in the study. We showed that 43 (40%) patients had a negative spinal cord MRI, while 27 (25%) patients were identified as having a poor prognosis (EDSS score at follow-up ≥ 4). Compared with MRI-negative patients, the MRI-positive group was more likely to have back/neck pain, spinal cord shock and poor prognosis, and the EDSS score at follow-up was higher. We also identified three risk factors for a poor outcome: absence of second-line therapies, high EDSS score at nadir and a positive MRI result.
CONCLUSIONS
Compared with MRI-negative group, MRI-positive patients were more likely to have back/neck pain, spinal cord shock and poor prognosis, with a higher EDSS score at follow-up. The absence of second-line therapies, high EDSS score at nadir, and a positive MRI were risk factors for poor outcomes in patients with first-attack IATM. MRI-negative patients may have better prognosis, an active second-line immunotherapy for IATM patients may improve clinical outcome.
Topics: Humans; Myelitis, Transverse; Male; Female; Magnetic Resonance Imaging; Prognosis; Adult; Middle Aged; Spinal Cord; Retrospective Studies
PubMed: 38951761
DOI: 10.1186/s12883-024-03738-5