Conventional Diagnosis Research Articles

Biomarkers of Airway Disease, Barrett’s and Underdiagnosed Reflux Noninvasively (BAD-BURN) in World Trade Center exposed firefighters: a case–control observational study protocol

BackgroundParticulate matter exposure (PM) is a cause of aerodigestive disease globally. The destruction of the World Trade Center (WTC) exposed first responders and inhabitants of New York City to WTC-PM and caused obstructive airways disease (OAD), gastroesophageal reflux disease (GERD) and Barrett’s Esophagus (BE). GERD not only diminishes health-related quality of life but also gives rise to complications that extend beyond the scope of BE. GERD can incite or exacerbate allergies, sinusitis, bronchitis, and asthma. Disease features of the aerodigestive axis can overlap, often necessitating more invasive diagnostic testing and treatment modalities. This presents a need to develop novel non-invasive biomarkers of GERD, BE, airway hyperreactivity (AHR), treatment efficacy, and severity of symptoms.MethodsOur observational case-cohort study will leverage the longitudinally phenotyped Fire Department of New York (FDNY)-WTC exposed cohort to identify Biomarkers of Airway Disease, Barrett’s and Underdiagnosed Reflux Noninvasively (BAD-BURN). Our study population consists of n = 4,192 individuals from which we have randomly selected a sub-cohort control group (n = 837). We will then recruit subgroups of i. AHR only ii. GERD only iii. BE iv. GERD/BE and AHR overlap or v. No GERD or AHR, from the sub-cohort control group. We will then phenotype and examine non-invasive biomarkers of these subgroups to identify under-diagnosis and/or treatment efficacy. The findings may further contribute to the development of future biologically plausible therapies, ultimately enhance patient care and quality of life.DiscussionAlthough many studies have suggested interdependence between airway and digestive diseases, the causative factors and specific mechanisms remain unclear. The detection of the disease is further complicated by the invasiveness of conventional GERD diagnosis procedures and the limited availability of disease-specific biomarkers. The management of reflux is important, as it directly increases risk of cancer and negatively impacts quality of life. Therefore, it is vital to develop novel noninvasive disease markers that can effectively phenotype, facilitate early diagnosis of premalignant disease and identify potential therapeutic targets to improve patient care.Trial registrationName of Primary Registry: “Biomarkers of Airway Disease, Barrett's and Underdiagnosed Reflux Noninvasively (BADBURN)”. Trial Identifying Number: NCT05216133. Date of Registration: January 31, 2022.

Vascular streak dieback: A novel threat to redbud and other woody ornamental production in the United States.

Eastern redbud (Cercis canadensis L.) is a popular and high-value woody ornamental plant native to the eastern and south-central United States of America (U.S.A.). In recent years, redbud production in the Southeastern U.S.A. has been greatly affected by a novel threat: vascular streak dieback (VSD). Infected plants exhibit a common set of symptoms, including leaf scorch, tip dieback, and vascular streaking that creates a marbled pattern in stem cross-section. Based on both conventional diagnosis and molecular identification, it has been found that the fungus Ceratobasidium sp. D.P. Rogers (Csp) is consistently associated with VSD-symptomatic eastern redbuds. However, the causal agent(s) of VSD has not yet been conclusively confirmed. Although eastern redbud has been the most frequently identified host tree, more than 25 other native plant genera have been confirmed to have VSD associated with Csp. The near-obligate nature of this fungus has made it challenging to culture, extract DNA, and conduct further studies to confirm its pathogenicity. This article highlights the emerging challenges of VSD, focusing on the following: 1) the recent history of VSD; 2) the increasing importance of VSD to woody ornamental nursery production in the U.S.A.; 3) the currently available protocols for isolating, culturing, storing, and maintaining the putative causal agent; 4) the rapid molecular detection of Csp; 5) phylogenetic findings on the origin and relatedness of Csp to previously recorded diseases, especially VSD in cacao (Theobroma cacao L.); and 6) preliminary results and observations from fungicide trials and cultivar screening in Tennessee. The article also outlines research needed to comprehensively understand VSD and accelerate the development of effective management strategies.

Occlusion enhanced pan-cancer classification via deep learning

Quantitative measurement of RNA expression levels through RNA-Seq is an ideal replacement for conventional cancer diagnosis via microscope examination. Currently, cancer-related RNA-Seq studies focus on two aspects: classifying the status and tissue of origin of a sample and discovering marker genes. Existing studies typically identify marker genes by statistically comparing healthy and cancer samples. However, this approach overlooks marker genes with low expression level differences and may be influenced by experimental results. This paper introduces “GENESO,” a novel framework for pan-cancer classification and marker gene discovery using the occlusion method in conjunction with deep learning. we first trained a baseline deep LSTM neural network capable of distinguishing the origins and statuses of samples utilizing RNA-Seq data. Then, we propose a novel marker gene discovery method called “Symmetrical Occlusion (SO)”. It collaborates with the baseline LSTM network, mimicking the “gain of function” and “loss of function” of genes to evaluate their importance in pan-cancer classification quantitatively. By identifying the genes of utmost importance, we then isolate them to train new neural networks, resulting in higher-performance LSTM models that utilize only a reduced set of highly relevant genes. The baseline neural network achieves an impressive validation accuracy of 96.59% in pan-cancer classification. With the help of SO, the accuracy of the second network reaches 98.30%, while using 67% fewer genes. Notably, our method excels in identifying marker genes that are not differentially expressed. Moreover, we assessed the feasibility of our method using single-cell RNA-Seq data, employing known marker genes as a validation test.

Психотерапевтическая диагностика и психокоррекция как метод диагностики и лечения угрозы невынашивания беременности

The global prevalence of preterm labor (PL) is 6-12%. Despite the large number of studies focused on exploring the options for diagnosis and prevention of PL, there are currently no methods of absolute diagnostic or prognostic value. Methods. The authors of the paper have developed a psychotherapeutic diagnosis and psychocorrection method (PDPM) for the diagnosis of obstetric and neonatal complications, including threatened miscarriage (TM), PL based on psychotherapeutic criteria and for psychocorrection of women’s disorders, which have been used since 2003 and was amended in 2010, at the Perinatal Center in Saratov. Results and discussion. PDPM makes it possible to recognize the disorders in individuals having abnormalities associated with pregnancy and labor, especially at the early stage of the disorder development, when the emerging disorder cannot be detected by standard assessment methods, helps to find the cause of pathological changes, especially in cases when the use of standard therapy has no significant therapeutic effect, perform psychotherapeutic correction of the disorder in the way most positive for mother, fetus, and the newborn, including reducing the consequences in cases of preterm labor. The advantages of PDPM are rapidity, the lack of various equipment, the fact that the diagnosis engages a pregnant woman, puerpera in adjustment of her condition, the fact that PDPM can be used in emergency, stationary, and extreme situations, before and after surgery, in cases of hemorrhage, acute intrauterine hypoxia, and in other cases. PDPM is based on the woman’s subjective assessment of her condition. Conclusion. PDPM can be the main method for diagnosis and treatment of TM, obstetric, neonatal complications; the method can also be combined with conventional treatment and diagnosis measures in pregnancy. The lack of the earlier reported psychotherapeutic criteria during repeated application of PDPM suggests the effectiveness of TM treatment and the lack of obstetric and neonatal complications in the future.

Single-pixel positron beam diagnosis via compressive sampling.

The morphology is a crucial indicator for diagnosing a low-energy, low-brightness particle beam. However, conventional positron beam diagnosis, based on the pixel scanning principle, is limited by physical constraints, such as the resolution of detector pixels. Here, we have presented a novel slow positron diagnosis method using compressive sampling. With a 100 × 100 pixel-sized mask, for example, the positron beam morphology can be significantly reconstructed with a peak signal-to-noise ratio of ∼40 dB, even at half the sampling rate compared to pixel scanning. It explores a promising approach for positron beam diagnosis with an ultra-high resolution and fast sampling rates.

An Overview of Acupuncture Dosage in Veterinary Medicine

Acupuncture is subject to dosage considerations, similar to pharmaceuticals, that significantly influence therapeutic outcomes. In instances where the initial diagnosis is confirmed to be accurate, and results are suboptimal, consideration should be given to augmenting the acupuncture dosage and technique used. Veterinary acupuncture dosage includes size of acupuncture needles, depth of needle insertion, frequency/duration of the treatments, and type of acupuncture technique used. Larger needle size generates stronger stimulation and studies indicate that acupuncture points can have specific effects on the body based on depth of stimulation (i.e. length of needle). Optimal therapy also depends on the frequency of treatment and will vary dependent on the clinical condition and acupuncture technique. In cases where clinical improvements remain absent after 4-6 sessions of dry needle acupuncture therapy, it is prudent to reevaluate both conventional and TCVM diagnoses, as well as acupuncture dosage. Adjustments in acupuncture dosage can include the use of longer needles, the incorporation of additional acupoints or the addition of other needle stimulation techniques. The use of advanced acupuncture modalities, such as electro-acupuncture, aqua-acupuncture, acupoint embedding and scalp acupuncture, may significantly enhance therapeutic efficacy. This paper aims to explore and elucidate the various factors influencing the dosage of acupuncture in a variety of species across ten commonly used acupuncture techniques, thereby providing insights into how they can be optimized to enhance treatment efficacy.

A Transdiagnostic, Hierarchical Taxonomy of Psychopathology Following Traumatic Brain Injury (HiTOP-TBI).

Psychopathology, including depression, anxiety, and post-traumatic stress, is a significant yet inadequately addressed feature of moderate-severe traumatic brain injury (TBI). Progress in understanding and treating post-TBI psychopathology may be hindered by limitations associated with conventional diagnostic approaches, specifically the Diagnostic and Statistical Manual of Mental Disorders (DSM) and International Classification of Diseases (ICD). The Hierarchical Taxonomy of Psychopathology (HiTOP) offers a promising, transdiagnostic alternative to psychiatric classification that may more effectively capture the experiences of individuals with TBI. However, HiTOP lacks validation in the TBI population. To address this gap, we administered a comprehensive questionnaire battery, including 56 scales assessing homogeneous symptom components and maladaptive traits within HiTOP, to 410 individuals with moderate-severe TBI. We evaluated the reliability and unidimensionality of each scale and revised those with psychometric problems. Using a top-down, exploratory latent variable approach (bass-ackwards modeling), we subsequently constructed a hierarchical model of psychopathological dimensions tailored to TBI. The results showed that, relative to norms, participants with moderate-severe TBI experienced greater problems in the established HiTOP internalizing and detachment spectra, but fewer problems with thought disorder and antagonism. Fourteen of the 56 scales demonstrated psychometric problems, which often appeared reflective of the TBI experience and associated disability. The Hierarchical Taxonomy of Psychopathology Following Traumatic Brain Injury (HiTOP-TBI) model encompassed broad internalizing and externalizing spectra, splitting into seven narrower dimensions: Detachment, Dysregulated Negative Emotionality, Somatic Symptoms, Compensatory and Phobic Reactions, Self-Harm and Psychoticism, Rigid Constraint, and Harmful Substance Use. This study presents the most comprehensive empirical classification of psychopathology after TBI to date. It introduces a novel, TBI-specific transdiagnostic questionnaire battery and model, which addresses the limitations of conventional DSM and ICD diagnoses. The empirical structure of psychopathology after TBI largely aligned with the established HiTOP model (e.g., a detachment spectrum). However, these constructs need to be interpreted in relation to the unique experiences associated with TBI (e.g., considering the injury's impact on the person's social functioning). By overcoming the limitations of conventional diagnostic approaches, the HiTOP-TBI model has the potential to accelerate our understanding of the causes, correlates, consequences, and treatment of psychopathology after TBI.

Diagnosing Solid Lesions in the Pancreas With Multimodal Artificial Intelligence

Diagnosing solid lesions in the pancreas via endoscopic ultrasonographic (EUS) images is challenging. Artificial intelligence (AI) has the potential to help with such diagnosis, but existing AI models focus solely on a single modality. To advance the clinical diagnosis of solid lesions in the pancreas through developing a multimodal AI model integrating both clinical information and EUS images. In this randomized crossover trial conducted from January 1 to June 30, 2023, from 4 centers across China, 12 endoscopists of varying levels of expertise were randomly assigned to diagnose solid lesions in the pancreas with or without AI assistance. Endoscopic ultrasonographic images and clinical information of 439 patients from 1 institution who had solid lesions in the pancreas between January 1, 2014, and December 31, 2022, were collected to train and validate the joint-AI model, while 189 patients from 3 external institutions were used to evaluate the robustness and generalizability of the model. Conventional or AI-assisted diagnosis of solid lesions in the pancreas. In the retrospective dataset, the performance of the joint-AI model was evaluated internally and externally. In the prospective dataset, diagnostic performance of the endoscopists with or without the AI assistance was compared. The retrospective dataset included 628 patients (400 men [63.7%]; mean [SD] age, 57.7 [27.4] years) who underwent EUS procedures. A total of 130 patients (81 men [62.3%]; mean [SD] age, 58.4 [11.7] years) were prospectively recruited for the crossover trial. The area under the curve of the joint-AI model ranged from 0.996 (95% CI, 0.993-0.998) in the internal test dataset to 0.955 (95% CI, 0.940-0.968), 0.924 (95% CI, 0.888-0.955), and 0.976 (95% CI, 0.942-0.995) in the 3 external test datasets, respectively. The diagnostic accuracy of novice endoscopists was significantly enhanced with AI assistance (0.69 [95% CI, 0.61-0.76] vs 0.90 [95% CI, 0.83-0.94]; P < .001), and the supplementary interpretability information alleviated the skepticism of the experienced endoscopists. In this randomized crossover trial of diagnosing solid lesions in the pancreas with or without AI assistance, the joint-AI model demonstrated positive human-AI interaction, which suggested its potential to facilitate a clinical diagnosis. Nevertheless, future randomized clinical trials are warranted. ClinicalTrials.gov Identifier: NCT05476978.

Ovarian cancer: Diagnosis and treatment strategies (Review).

Ovarian cancer is a malignant tumor that seriously endangers health. Early ovarian cancer symptoms are frequently challenging to detect, resulting in a large proportion of patients reaching an advanced stage when diagnosed. Conventional diagnosis relies heavily on serum biomarkers and pathological examination, but their sensitivity and specificity require improvement. Targeted therapy inhibits tumor growth by targeting certain characteristics of tumor cells, such as signaling pathways and gene mutations. However, the effectiveness of targeted therapy varies among individuals due to differences in their unique biological characteristics and requires individualized strategies. Immunotherapy is a promising treatment for ovarian cancer due to its long-lasting antitumor effect. Nevertheless, issues such as variable efficacy, immune-associated adverse effects and drug resistance remain to be resolved. The present review discusses the diagnostic strategies, rationale, treatment strategies and prospects of targeted therapy and immunotherapy for ovarian cancer.

Biphenotypic sinonasal sarcoma diagnosed by detection of PAX3-MAML3 fusion gene using integrated whole-genome and transcriptome sequencing.

Biphenotypic sinonasal sarcoma (BSNS) is a double-phenotype sarcoma that shows differentiation in both the nervous and muscular systems. To date, whole-genome and transcriptome sequencing (WGTS) has not been used to analyze BSNS. We report a patient with BSNS who was diagnosed based on PAX3 rearrangement using WGTS. A 71-year-old Japanese male without remarkable symptoms showed a nasal tumor when undergoing computed tomography. Although pathological examination revealed a non-characteristic spindle cell tumor, a definitive diagnosis could not be made based on this examination. Endoscopic sinus surgery was performed for subsequent diagnosis, treatment, and WGTS. WGTS revealed a t(2; 4)(q35; q31.1) reciprocal translocation, resulting in a PAX3-MAML3 fusion gene, leading to a definitive diagnosis of BSNS. We also detected upregulation of the expression of PAX3, MAML3, and 11 known genes involved in neural and myogenic differentiation relevant to the BSNS phenotype. Hence, using WGTS in combination with conventional pathological diagnosis can contribute to a definitive diagnosis of rare cancers, including BSNS, by detecting chromosomal rearrangements or diagnostic markers.

Revolutionizing chronic endometritis diagnosis: real-time polymerase chain reaction unveils microbial pathogens in Indian women with abnormal bleeding and reproductive challenges

BackgroundThis study aimed to assess the utility of real-time-polymerase chain reaction (PCR) for diagnosing chronic endometritis (CE) by targeting 11 prevalent pathogens and to compare the outcomes with conventional culture-based diagnosis. Study DesignA retrospective analysis was conducted on 500 patients with clinical conditions such as abnormal bleeding, in vitro fertilization failure, recurrent implantation failure, recurrent miscarriage, and recurrent pregnancy loss. The prevalence of 11 key pathogens associated with CE was evaluated in endometrial biopsy samples. ResultsIn our study, PCR identified 318 cases (63.6%) positive for at least one of the 11 investigated pathogens, while culture-based methods detected 115 cases (23%). Predominant pathogens detected by PCR included Enterococcus faecalis (E. faecalis) (19%), Escherichia coli (E. coli) (6.8%), Staphylococcus aureus (S. aureus) (9%), Mycoplasma hominis (5%), Mycoplasma genitalium (6.2%), Streptococcus agalactiae (S. agalactiae) (4.2%), Ureaplasma urealyticum (4%), nontuberculous Mycobacterium (5.2%), Mycobacterium tuberculosis (1.2%), Neisseria gonorrhoeae (0.6%), and Chlamydia trachomatis (2.4%). Standard culture methods identified E. faecalis (10.8%), S. aureus (6.2%), E. coli (3.8%), and S. agalactiae (2.2%). ConclusionThe DICE panel proves itself as a swift, precise, and cost-effective diagnostic tool for detecting both culturable and nonculturable endometrial pathogens in CE. Demonstrating superiority, the Molecular method outshines microbial culture, ensuring accurate and sensitive detection of CE-associated pathogens, harmonizing seamlessly with histology and hysteroscopy findings.

P-060 When is it the sperm’s fault? The incidence of sperm-related poor fertilization after ICSI in 13,859 matched oocyte donation cycles

Abstract Study question What is the true incidence and impact of male factor-related poor fertilization in ICSI cycles when analyzed using matched pairs of high quality donor oocytes? Summary answer In ICSI cycles with donor oocytes, male factor-related poor fertilization occurs in 3.3% of cases and contributes to 86.7% of all poor (&amp;lt;30%) fertilization outcomes. What is known already Opting for oocyte donation is a complex decision for couples, involving significant financial and long-term implications. This decision is typically prompted by presumed female infertility as male fertility diagnostics remain limited. Although ICSI is a highly effective treatment, cases of poor or complete fertilization failure can still occur, even when sperm parameters appear normal. This suggests the presence of unidentified male-related factors. However, the precise incidence of such factors remains poorly understood. This study aims to address this gap, offering a unique perspective, by employing a matched oocyte donation model to investigate the influence of sperm-related factors on fertilization outcomes. Study design, size, duration This retrospective cohort study analyzed 14,928 oocyte donation ICSI cycles, derived from 7,519 ovarian stimulations (OS) of 2,963 unique oocyte donors. The data were from a single center from January 2015 to December 2022. Sibling oocytes from the same OS were utilized for at least two different recipients (n = 13,859), facilitating comparisons under varying paternal conditions. Participants/materials, setting, methods Cases from the same oocyte lot with poor (&amp;lt;30%) and good (&amp;gt;65%) fertilization rates were matched to isolate sperm-related factors influencing fertilization success. Paired t-tests were used to compare outcomes. Ordinary least squares regression was used to isolate variables associated with poor fertilization, such as oocyte status (fresh versus vitrified), sperm origin (partner versus donor) and the presence of severe male factor (defined as a concentration of &amp;lt; 1 million/mL and/or &amp;lt;1% progressive motility). Main results and the role of chance The mean fertilization rate was 73.0% across all cycles analyzed. The incidence of poor fertilization (≤30%) was found to be 3.8% across the entire cohort (532 out of 13,859 cycles). Of these, 86.7% (461/532) cases using the same oocyte lot could be matched to cases with high fertilization rates (&amp;gt;65%) in other recipient cycles (n = 1,441), indicating that poor fertilization was male-related. We observed comparable numbers of inseminated oocytes between matched cases with high and low fertilization (7.23 ± 1.32 and 7.42 ± 1.42, respectively, p = 0.011), while the mean number of fertilized oocytes (1.44 ± 0.77 versus 6.12 ± 1.36, p = &amp;lt;0.001) and mean fertilization rates (20% versus 83%, p &amp;lt; 0.001) differed significantly. Notably, oocyte vitrification and the presence of a severe male factor negatively affected fertilization outcomes (coeff. -0.0898, p &amp;lt; 0.001 and coeff. -0.1500, p &amp;lt; 0.001, respectively). Nevertheless, the majority of poor fertilization cases (92.7%) occurred in the absence of these factors, underscoring the limitations of conventional semen diagnosis tests as predictors of poor fertilization. Across the entire cohort male factor alone accounted for 3.3% (461/13,859) of cycles with &amp;lt;30% fertilization rates. Furthermore, sperm-related factors were the primary cause of poor fertilization outcomes in oocyte donation cycles, accounting for 86.7% of cases. Limitations, reasons for caution Certain variables were not analyzed due to the retrospective nature and extended timeframe of the study. The matched oocyte model may overlook certain non-male factor-related instances of poor fertilization, such as procedural or technical issues. Wider implications of the findings This extensive analysis emphasizes the clinical relevance of male factor in fertilization outcomes, highlighting the need for improved semen diagnosis. It also indicates the importance of considering male-related factors in treatment decisions and shifting the focus from female-centric to more balanced fertility evaluations. Trial registration number Not applicable

A real-life ImmunoCAT study: impact of molecular diagnosis through ImmunoCAPTM ISAC 112 on immunotherapy prescription in pollen-polysensitized patients in Catalonia, Spain.

Molecular diagnosis in allergology helps to identify multiple allergenic molecules simultaneously. The use of purified and/or recombinant allergens increases the accuracy of individual sensitization profiles in allergic patients. To assess the impact of molecular diagnosis through the ImmunoCAPTM ISAC 112 microarray on etiological diagnosis and specific immunotherapy (SIT) prescription. This was compared to the use of conventional diagnoses in pediatric, adolescent, and young adult patients with rhinitis or rhinoconjunctivitis and/or allergic asthma, sensitized to three or more pollen allergens of different botanical species. A multicenter, prospective, observational study was conducted in patients aged 3-25 years who received care at the Allergology service of 14 hospitals in Catalonia from 2017 to 2020. Allergology diagnosis was established based on the patient's clinical assessment and the results of the skin prick test and specific immunoglobulin E assays. Subsequently, molecular diagnosis was conducted using ImmunoCAPTM ISAC® 112 to recombinant and/or purified allergen components. A total of 109 patients were included; 35 (32.1%) were pediatric patients and 74 (67.9%) were adolescents or young adults (mean age: 18 years), with 58.0% being females. A change of 51.0% was observed in SIT prescription following molecular etiological diagnosis by means of a multi-parameter microarray. Molecular diagnosis by means of multi-parameter tests increases the accuracy of etiological diagnosis and helps to define an accurate composition of SIT.

Schistosomiasis in areas of low endemicity: an overly neglected disease. The example of Schistosoma monsoni in BrazilEsquistossomose em áreas de baixa endemicidade, uma doença muito negligenciada. O exemplo de Schistosoma mansoni no Brasil

Human schistosomiasis is a parasitic disease caused by an infection with trematodes of the genus Schistosoma. The disease mainly affects impoverished populations. Around 800 million people are exposed to the infection, which is a public health problem in the tropical and subtropical regions of Africa, Asia, the Caribbean and South America. In Brazil, Schistosoma mansoni is the only species that causes schistosomiasis and the disease is widely distributed. Conventional diagnosis of the disease is carried out by detecting eggs using parasitological methods, such as the Kato-Katz test. Schistosomiasis has been reported in all regions of Brazil and is characterized as endemic in seven states in the Northeast Region and two states in the Southeast Region. In 2015, 78,7% of all cases reported in Brazil occurred in the Northeast Region. It is estimated that 1,5 million people is infected with this disease in Brazil and more than 25 millions live in areas with a high risk of transmission. Despite the reduction in mortality and morbidity, schistosomiasis was responsible for 8,756 deaths between 2000 and 2011 and 2,517 deaths between 2015 and 2019 in Brazil and it remains an important public health problem. In the state of Rio de Janeiro, some areas have low endemicity or isolated foci of Schistosoma mansoni and the majority of infected individuals have mild infections. The last survey of the disease in the state of Rio de Janeiro was carried out between 2010 and 2015 in students aged 7 to 17.Schistosomiasis was reported in 10 of the 21 municipalities studied. Of the 5,111 school children screened for S. mansoni infection, 46 (1,65%) were tested positive. Studies carried out in areas of low endemicity in Rio de Janeiro showed that among the 205 patients infected by S. mansoni in Sumidouro, around 84% were aged 14 or over and all, except one individual, had the intestinal form (91,2%) or hepato-intestinal (8,3%) of schistosomiasis. Another study carried out in Sumidouro showed that with tests based on patent Schistosoma egg infection determined by the Kato-Katz test, active infections were diagnosed in eight (8/108) individuals. The intensity of infection expressed by parasite loads ranged from 6 to 72 eggs per gram of feces/individual. The results showed DNA amplification in 32 of the 100 individuals tested by real-time PCR. All individuals with patent ovo infection showed positive DNA amplification. These studies showed that if we only analyzed school-age children using the Kato-Katz test, the majority of the infected population would never be diagnosed with S. mansoni infection. In situations of low endemicity, with low intensities of infection, with low severity in the population and in the most affected age groups, schistosomiasis requires a more sensitive diagnostic approach (e.g. screening by PCR rather than Kato test), otherwise many infected individuals will remain invisible to the healthcare system.

A Semi-supervised Gaussian Mixture Variational Autoencoder method for few-shot fine-grained fault diagnosis

In practical engineering, obtaining labeled high-quality fault samples poses challenges. Conventional fault diagnosis methods based on deep learning struggle to discern the underlying causes of mechanical faults from a fine-grained perspective, due to the scarcity of annotated data. To tackle those issue, we propose a novel semi-supervised Gaussian Mixed Variational Autoencoder method, SeGMVAE, aimed at acquiring unsupervised representations that can be transferred across fine-grained fault diagnostic tasks, enabling the identification of previously unseen faults using only the small number of labeled samples. Initially, Gaussian mixtures are introduced as a multimodal prior distribution for the Variational Autoencoder. This distribution is dynamically optimized for each task through an expectation–maximization (EM) algorithm, constructing a latent representation of the bridging task and unlabeled samples. Subsequently, a set variational posterior approach is presented to encode each task sample into the latent space, facilitating meta-learning. Finally, semi-supervised EM integrates the posterior of labeled data by acquiring task-specific parameters for diagnosing unseen faults. Results from two experiments demonstrate that SeGMVAE excels in identifying new fine-grained faults and exhibits outstanding performance in cross-domain fault diagnosis across different machines. Our code is available at https://github.com/zhiqan/SeGMVAE.

Quantifiable TCR repertoire changes in prediagnostic blood specimens among patients with high-grade ovarian cancer

High-grade ovarian cancer (HGOC) is a major cause of death in women. Early detection of HGOC usually leads to a cure, yet it remains a clinical challenge with over 90% HGOCs diagnosed at advanced stages. This is mainly because conventional biomarkers are not sensitive enough to detect the microscopic yet metastatic early lesions. In this study, we sequence the blood Tcell receptor (TCR) repertoires of 466 patients with ovarian cancer and controls and systematically investigate the immune repertoire signatures in HGOCs. We observe quantifiable changes of selected TCRs in HGOCs that are reproducible in multiple independent cohorts. Importantly, these changes are stronger during stage I. Using pre-diagnostic patient blood samples from the Nurses' Health Study, we confirm that HGOC signals can be detected in the blood TCR repertoire up to 4 years preceding conventional diagnosis. Our findings may provide the basis for future immune-based HGOC early detection criteria.

Conventional and Doppler ultrasonographic diagnosis of subclinical pregnancy toxemia with altered serum cortisol and biochemical parameters in pregnant does

The pathogenesis and diagnosis of subclinical pregnancy toxemia (SCPT) remain elusive and need further investigation in pregnant does. Therefore, the aim of our study was to describe the typical properties of hepatic venous hemodynamics by Doppler ultrasonography. A total of 70 pregnant does were classified based on the blood serum concentrations of β-hydroxybutyric acid (βHBA), pregnant does were categorized into control group (βHBA concentrations <0.8 mmol/L; n = 40) and SCPT group (βHBA concentrations >0.8 mmol/L; n = 30). DRAMISKI 4vet slim diagnostic ultrasound scanner with B, M, and Doppler (color, power, pulsing wave) modes was used for diagnosis of SCPT. Total serum cortisol level was quantitative using chemiluminescent immunoassay. Serum glucose, triglycerides, cholesterol, HDL and LDL- cholesterol and LDH- cholesterol were measured by colorimetric and kinetic methods. Liver ultrasonography of does with SCPT had been shown mild fatty infiltration with rounded margin, which was characterized by hyperechoic area. There was a significant decrease in the values of portal vein diameter (PVD), portal vein area (PVA), portal mean velocity (PMV) and portal blood flow (PBF) in SCPT does compared to control pregnant does. PVD, PVA and PBF were negatively correlated with βHBA concentrations in does with SCPT (P < 0.05). PVD was inversely associated with serum cholesterol and triglycerides concentrations (P < 0.05). In conclusions, Doppler ultrasonography examinations of pregnant does with SCPT indicate abnormal hepatic variation. Reduced PVD, PVA, PMV and PBF together with increased βHBA concentrations could predict SCPT in does with fair sensitivity and specificity.

Semi-Supervised Informer for the Compound Fault Diagnosis of Industrial Robots.

The increasing deployment of industrial robots in manufacturing requires accurate fault diagnosis. Online monitoring data typically consist of a large volume of unlabeled data and a small quantity of labeled data. Conventional intelligent diagnosis methods heavily rely on supervised learning with abundant labeled data. To address this issue, this paper presents a semi-supervised Informer algorithm for fault diagnosis modeling, leveraging the Informer model's long- and short-term memory capabilities and the benefits of semi-supervised learning to handle the diagnosis of a small amount of labeled data alongside a substantial amount of unlabeled data. An experimental study is conducted using real-world industrial robot monitoring data to assess the proposed algorithm's effectiveness, demonstrating its ability to deliver accurate fault diagnosis despite limited labeled samples.

Clinical Impact of Connexin 43 Deregulation on Myocardial Infraction.

Coronary artery disease (CAD) is a major and multifaceted health problem but also the first cause of death in modern Western societies. Furthermore, myocardial infarction (MI) constitutes a challenge for analysis in the field of molecular mechanisms, early diagnosis and therapeutic approaches, as its incidence increases every year worldwide. Concerning the histopathological diagnosis in the corresponding cases, a variety of immunohistochemistry (IHC) markers and methods are available to support conventional histology diagnosis. Immunohistochemistry techniques are effective for use in forensic pathology, expanding the limits of differential diagnoses in borderline cases, as they can be applied to tissue samples fixed in formalin and embedded in paraffin. The purpose of the current review was to explore the role of connexin 43 (gene locus: 6q22.31) as a reliable biomarker of myocardial disease/infarction and its impact on MI pathology. A systematic review of the literature was carried out based on the international database PubMed. The majority of medical data referred to articles published after the year 2020, whereas specific references of great importance and value were also included. The following keywords were used: coronary, artery, myocardial, infarction, connexin and immunohistochemistry. A pool of 38 significant articles focused on the mechanisms and novel experimental biomarkers was selected for the present study at the basis of combining molecular knowledge with new clinical features in CAD, and MI histodiagnosis. The role of connexin 43 - as a significant gap junction intermediate protein - in MI pathology, clinical symptoms and prognosis is critical because its dysfunction is involved in myocardial conduction and the onset of ventricular arrhythmias due to a crucial interruption of the intra-cardiomyocyte's conjunction.

SEMG as complementary tool for VFSS: A synchronized study in patients with neurogenic oropharyngeal dysphagia

The neurogenic oropharyngeal dysphagia is a prevalent functional swallowing disorder resulting from neurological causes. The conventional diagnosis involves ionizing radiation in Videofluoroscopy Swallowing Studies (VFSS). Surface electromyography (sEMG) offers a non-invasive alternative by recording muscle activity. This research compares bolus passage timing through anatomical structures using VFSS and sEMG-related activation times. Fifty confirmed oropharyngeal dysphagia patients underwent synchronized VFSS and sEMG, evaluating muscle groups during cracker and fluid ingestion. sEMG revealed activation patterns in masseters, suprahyoid, and infrahyoid muscles, occurring before bolus passage through the mandibular line and concluding near the upper esophageal sphincter complex. sEMG identified differences in dysphagia severity (EAT-10 score), age, and diagnosis, contrasting VFSS results. Results indicate potential complementarity between sEMG and VFSS for dysphagia screening, diagnosis, and monitoring.