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Pyroptosis is a type of programmed cell death mediated by gasdermines (GSDMs). The N-terminal domain of GSDMs forms pores in the plasma membrane, causing cell membrane rupture and the release of cell contents, leading to an inflammatory response and mediating pyrodeath. Pyroptosis plays an important role in inflammatory diseases and malignant tumors. With the further study of pyroptosis, an increasing number of studies have shown that the pyroptosis pathway can regulate the tumor microenvironment and antitumor immunity of colorectal cancer and is closely related to the occurrence, development, treatment and prognosis of colorectal cancer. This review aimed to explore the molecular mechanism of pyroptosis and the role of pyroptosis in the occurrence, development, treatment and prognosis of colorectal cancer (CRC) and to provide ideas for the clinical diagnosis and treatment of CRC.
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Bladder cancer (BC) is a prevalent malignant tumor of the urinary system, known for its rapid progression and high likelihood of recurrence. Despite ongoing efforts, clinical diagnosis and treatment of BC remain limited. As such, there is an urgent need to investigate potential mechanisms underlying this disease. Exosomes, which contain a variety of bioactive molecules such as nucleic acids, proteins, and lipids, are regarded as extracellular messengers because they are implicated in facilitating intercellular communication in various diseases and are pivotal in tumor advancement, serving as a promising avenue for such researches. Nevertheless, the heterogeneous nature of BC necessitates further exploration of the potential involvement of exosomes in disease progression. This review comprehensively outlines the biological attributes of exosomes and their critical roles in tumorigenesis, while also discussing their potential applications in regulating the progression of BC involving clinical diagnosis, prognostication and treatment.
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BACKGROUND: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person. Some cases of MLID are caused by trans-acting genetic variants, frequently not in the patients but their mothers, which have counselling implications. There is currently no consensus on the definition of MLID, clinical indications prompting testing, molecular procedures and methods for epigenetic and genetic diagnosis, recommendations for laboratory reporting, considerations for counselling, and implications for prognosis and management. The purpose of this study is thus to cover this unmet need. METHODS: A comprehensive literature search was conducted resulting in identification of more than 100 articles which formed the basis of discussions by two working groups focusing on clinical diagnosis (n = 12 members) and molecular testing (n = 19 members). Following eight months of preparations and regular online discussions, the experts from 11 countries compiled the preliminary documentation and determined the questions to be addressed during a face-to-face meeting which was held with the attendance of the experts together with four representatives of patient advocacy organisations. RESULTS: In light of available evidence and expert consensus, we formulated 16 propositions and 8 recommendations as interim guidance for the clinical and molecular diagnosis of MLID. CONCLUSIONS: MLID is a molecular designation, and for patients with MLID and atypical phenotypes, we propose the alternative term multi-locus imprinting syndrome. Due to the intrinsic variability of MLID, the guidelines underscore the importance of involving experts from various fields to ensure a confident approach to diagnosis, counselling, and care. The authors advocate for global, collaborative efforts in both basic and translational research to tackle numerous crucial questions that currently lack answers, and suggest reconvening within the next 3-5 years to evaluate the research advancements and update this guidance as needed.
Subject(s)
DNA Methylation , Genomic Imprinting , Humans , Genomic Imprinting/genetics , DNA Methylation/genetics , Genetic Testing/methodsABSTRACT
Rapid detection and classification of pathogenic microbes for food hygiene, healthcare, environmental contamination, and chemical and biological exposures remain a major challenge due to nonavailability of fast and accurate detection methods. The delay in clinical diagnosis of the most frequent bacterial infections, particularly urinary tract infections (UTIs), which affect about half of the population at least once in their lifetime, can be fatal if not detected and treated appropriately. In this work, we have fabricated aluminum (Al) foil integrated pegylated gold nanoparticles (AuNPs) as a potential surface-enhanced Raman scattering (SERS) substrate, which is used for the detection and classification of uropathogens, namely, E. coli, S. aureus, and P. aeruginosa directly from the culture without any pretreatment. The substrate is first drop cast with bacterial pellets and then pegylated AuNPs, and the interaction of two on Al foil base gives identifiable characteristic Raman peaks with good reproducibility. With the use of chemometric methods such as principal component analysis (PCA), the Al foil-based SERS substrate offers a quick, effective detection and classification of three strains of UTI bacteria with the least bacterial concentration (105 cells mL-1) necessary for clinical diagnosis. In addition, this substrate was able to detect E. coli positive clinical samples by giving SERS fingerprint information directly from centrifuged urine samples within minutes. The stability of pegylated AuNPs provides for its application at the point of care with rapid and easy detection of uropathogens as well as the possibility of advancement in healthcare applications.
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Coronavirus disease 2019 (COVID-19), a kind of respiratory disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), primarily spreads through the respiratory tract from human to human. Its extensive and rapid spread has led to a global pandemic, causing great harm to human health and economic development all over the world. Current known evidence indicates that SARS-CoV-2 has evolved accumulating multiple mutations, with altered infectivity and viral replication capacity. A better understanding of the complications of COVID-19 and its relationship with underlying diseases is crucial for the prevention and treatment of SARS-CoV-2. This case series reviewed case data of our 4 recent patients with severe or critical COVID-19, including treatment plan, status of pulmonary infection and their microbiology workup with metagenomic next-generation sequencing with bronchoalveolar lavage fluid. This report shed light on the significance of rapid and accurate clinical diagnosis and treatment on COVID-19.
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PURPOSE: Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, like by the Undiagnosed Diseases Network (UDN)? METHODS: The UDN is a national research resource to solve medical mysteries through team science. Applicants provide informed consent to access to their medical records. After review, expert panels assess if applicants meet inclusion and exclusion criteria to select participants. When not accepting applicants, UDN experts may offer suggestions for diagnostic efforts. Using minimal information from initial applications, we compare features in applicants not accepted with those accepted and either solved or still not solved by the UDN. The diagnostic suggestions offered to non-accepted applicants and their clinicians were tallied. RESULTS: Non-accepted applicants were more often female, older at first symptoms and application, and longer in review than accepted applicants. The accepted and successfully diagnosed applicants were younger in ages, shorter in review time, more often non-white, of Hispanic ethnicity, and presenting with nervous system features. Half of non-accepted applicants were given suggestions for further local diagnostic evaluation. A few seemed to have two major diagnoses or a provocative environmental exposure history. CONCLUSION: Comprehensive UDN record review generates possibly helpful advice.
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The proposed expert opinion aimed to address the current knowledge on conceptual, clinical, and therapeutic aspects of diabetic peripheral neuropathy (DPN) and to provide a guidance document to assist clinicians for the best practice in DPN care. The participating experts consider the suspicion of the disease by clinicians as a key factor in early recognition and diagnosis, emphasizing an improved awareness of the disease by the first-admission or referring physicians. The proposed "screening and diagnostic" algorithm involves the consideration of DPN in a patient with prediabetes or diabetes who presents with neuropathic symptoms and/or signs of neuropathy in the presence of DPN risk factors, with careful consideration of laboratory testing to rule out other causes of distal symmetric peripheral neuropathy and referral for a detailed neurological work-up for a confirmative test of either small or large nerve fiber dysfunction in atypical cases. Although, the first-line interventions for DPN are currently represented by optimized glycemic control (mainly for type 1 diabetes) and multifactorial intervention (mainly for type 2 diabetes), there is a need for individualized pathogenesis-directed treatment approaches for DPN. Alpha-lipoic acid (ALA) seems to be an important first-line pathogenesis-directed agent, given that it is a direct and indirect antioxidant that works with a strategy targeted directly against reactive oxygen species and indirectly in favor of endogenous antioxidant capacity for improving DPN conditions. There is still a gap in existing research in the field, necessitating well-designed, robust, multicenter clinical trials with sensitive endpoints and standardized protocols to facilitate the diagnosis of DPN via a simple and effective algorithm and to track progression of disease and treatment response. Identification of biomarkers/predictors that would allow an individualized approach from a potentially disease-modifying perspective may provide opportunities for novel treatments that would be efficacious in early stages of DPN, and may modify the natural course of the disease. This expert opinion document is expected to increase awareness among physicians about conceptual, clinical, and therapeutic aspects of DPN and to assist them in timely recognition of DPN and translating this information into their clinical practice for best practice in the management of patients with DPN.
Subject(s)
Diabetic Neuropathies , Humans , Diabetic Neuropathies/diagnosis , Diabetic Neuropathies/therapy , Expert Testimony , Disease Management , Mass Screening/methods , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/therapy , Diabetes Mellitus, Type 2/complicationsABSTRACT
During tumorigenesis and progression, the immune checkpoint programmed death-1 (PD-1) and its ligand programmed death ligand-1 (PD-L1) play critical roles in suppressing T cell-mediated anticancer immune responses, leading to T-cell exhaustion and subsequent tumor evasion. Therefore, anti-PD-L1/PD-1 therapy has been an attractive strategy for treating cancer over the past decade. However, the overall efficacy of this approach remains suboptimal, revealing an urgent need for novel insights. Interestingly, increasing evidence indicates that both PD-L1 on tumor cells and PD-1 on tumor-specific T cells undergo extensive N-linked glycosylation, which is essential for the stability and interaction of these proteins, and this modification promotes tumor evasion. In various preclinical models, targeting the N-linked glycosylation of PD-L1/PD-1 was shown to significantly increase the efficacy of PD-L1/PD-1 blockade therapy. Furthermore, deglycosylation of PD-L1 strengthens the signal intensity in PD-L1 immunohistochemistry (IHC) assays, improving the diagnostic and therapeutic relevance of this protein. In this review, we provide an overview of the regulatory mechanisms underlying the N-linked glycosylation of PD-L1/PD-1 as well as the crucial role of N-linked glycosylation in PD-L1/PD-1-mediated immune evasion. In addition, we highlight the promising implications of targeting the N-linked glycosylation of PD-L1/PD-1 in the clinical diagnosis and treatment of cancer. Our review identifies knowledge gaps and sheds new light on the cancer research field.
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B7-H1 Antigen , Neoplasms , Programmed Cell Death 1 Receptor , Humans , Glycosylation , Neoplasms/metabolism , Neoplasms/drug therapy , Neoplasms/diagnosis , Neoplasms/therapy , Neoplasms/pathology , B7-H1 Antigen/metabolism , Programmed Cell Death 1 Receptor/metabolism , Programmed Cell Death 1 Receptor/antagonists & inhibitors , Animals , Molecular Targeted TherapyABSTRACT
Both clinical diagnosis and neuropathological diagnosis are commonly used in literature to categorize individuals as Alzheimer's disease (AD) or non-AD in omics analyses. Whether these diagnostic strategies result in distinct profiles of molecular abnormalities is poorly understood. Here, we analysed one of the most commonly used AD omics datasets in the literature from the Religious Orders Study and Memory and Aging Project (ROSMAP) cohort and compared the two diagnosis strategies using brain transcriptome and metabolome by grouping individuals as non-AD and AD according to clinical or neuropathological diagnosis separately. Differentially expressed genes, associated pathways related with AD hallmarks and AD-related genes showed that the categorization based on neuropathological diagnosis more accurately reflects the disease state at the molecular level than the categorization based on clinical diagnosis. We further identified consensus biomarker candidates between the two diagnosis strategies such as 5-hydroxylysine, sphingomyelin and 1-myristoyl-2-palmitoyl-GPC as metabolite biomarkers and sphingolipid metabolism as a pathway biomarker, which could be robust AD biomarkers since they are independent of diagnosis strategies. We also used consensus AD and consensus non-AD individuals between the two diagnostic strategies to train a machine-learning based model, which we used to classify the individuals who were cognitively normal but diagnosed as AD based on neuropathological diagnosis (asymptomatic AD individuals). The majority of these individuals were classified as consensus AD patients for both omics data types. Our study provides a detailed characterization of both diagnostic strategies in terms of the association of the corresponding multi-omics profiles with AD.
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Endometriosis is an enigmatic disease, with no specific cause or trigger yet discovered. Major factors that may contribute to endometriosis in the pelvic region include environmental, epigenetic, and inflammatory factors. Most experts believe that the primary mechanism behind the formation of endometrial lesions is associated with Sampson's theory of "retrograde menstruation". This theory suggests that endometrial cells flow backward into the peritoneal cavity, leading to the development of endometrial lesions. Since this specific mechanism is also observed in healthy women, additional factors may be associated with the formation of endometrial lesions. Current treatment options primarily consist of medical or surgical therapies. To date, none of the available medical therapies have proven effective in curing the disorder, and symptoms tend to recur once medications are discontinued. Therefore, there is a need to explore and develop novel biomedical targets aimed at the cellular and molecular mechanisms responsible for endometriosis growth. This article discusses a recent molecular pathophysiology associated with the formation and progression of endometriosis. Furthermore, the article summarizes the most current medications and surgical strategies currently under investigation for the treatment of endometriosis.
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Background The clinical diagnosis of acute appendicitis (AA) can be challenging. This study aimed to evaluate the significance of this diagnosis amidst technological progress. It compared clinical diagnosis to radiology-aided diagnostic outcomes and negative appendicectomy rates (NAR). Methodology This study conducted a single-center retrospective and prospective cohort observational study on all adult patients presenting with suspected AA in 2018 at a major tertiary teaching hospital in Perth, Western Australia. Key demographics, clinicopathological, radiology, and operative reports were reviewed. Data were analyzed using SPSS v.27. Results Of 418 patients with suspected AA, 234 (56%) were in the retrospective group. The median age was 35 (IQR=26), and 224 (54%) were female. The overall NAR was 18.6% (95% CI (14.8-22.4)) and 20.8% for clinical diagnosis. Notably, the NAR for ultrasound (USS)-reported AA (false positive) was 17.6% (95% CI (10.6-27.4)). Three-quarters of the patients, 298 (71.3%), had radiological imaging. The most common modality was CT 176 (59.1%), and 33 (7.9%) had both CT and USS imaging performed. Compared with final histopathology, no significant difference was found in the accuracy of clinically diagnosed and USS-diagnosed cases, with rates of 83.5% and 82.5%, respectively (p=0.230). CT had the best positive predictive value at 82.1%. Single-modality imaging did not cause a significant surgical delay (p=0.914), but multi-modal imaging showed a non-significant trend toward delay (p=0.065). When surgeons assessed an appendix as normal, 54 (12.9%), the histopathological assessment revealed pathology in 28 (51.9%). The inter-observer agreement was only fair to moderate, Kappa=0.46 (95% CI (0.33-0.58); p<0.001). The intraoperative identification of a normal appendix inversely correlated to the grade of the primary surgeon, which was likely related to the number of surgical personnel in the theater (p<0.001). Conclusion This study showed that clinical diagnosis matches the diagnostic accuracy of imaging technologies. Utilizing diagnostic imaging methods promptly and appropriately did not lead to considerable delays in surgery. Surgeons' capability to diagnose appendicitis during surgery is moderately accurate. Most patients underwent imaging, with CT scans being the most common. Moving forward, practitioners must minimize excessive reliance on imaging techniques as this can be resource-intensive, especially in developing countries. Future clinical practice should balance embracing technological advancements and preserving essential clinical diagnostic expertise, for medicine is both a science and an art.
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STUDY OBJECTIVE: Hindsight bias is the tendency to overestimate the predictability of an event after it has already occurred. We aimed to evaluate whether hindsight bias influences the retrospective interpretation of clinical scenarios in the field of anesthesiology, which relies on clinicians making rapid decisions in the setting of perioperative adverse events. DESIGN: Two clinical scenarios were developed (intraoperative hypotension and intraoperative hypoxia) with 3 potential diagnoses for each. Participants completed a crossover study reviewing one case without being informed of the supposed ultimate diagnosis (i.e., no 'anchor' diagnosis), referred to as their foresight case, and the other as a hindsight case wherein they were informed in the leading sentence of the scenario that 1 of the 3 conditions provided was the ultimate diagnosis (i.e., the diagnosis the participant might 'anchor' to if given this information at the start). Participants were randomly assigned to (1) which scenario (hypotension or hypoxia) was presented as the initial foresight case and (2) which of the 3 potential diagnoses for the second case (the hindsight case, which defaulted to whichever case the participant was not assigned for the first case) was presented as the ultimate diagnosis in the leading sentence in a 2 (scenario order) x 3 (hindsight case anchor) between-subjects factorial design (6 possible randomization assignments). SETTING: Two academic medical centers. PARTICIPANTS: Faculty, fellow, and resident anesthesiologists and certified nurse anesthetists (CRNAs). INTERVENTIONS: None. MEASUREMENTS: After reading each clinical scenario, participants were asked to rate the probability (%) of each of three potential diagnoses to have caused the hypotension or hypoxia. Compositional data analysis (CoDA) was used to compare whether diagnosis probabilities differ between the hindsight and the foresight case. MAIN RESULTS: 113 participants completed the study. 59 participants (52%) were resident anesthesiologists. Participants randomized to the hypotension scenario as a hindsight case were 2.82 times more likely to assign higher probability to the pulmonary embolus diagnosis if provided as an anchor (95% CI, 1.35-5.90; P = 0.006) and twice as likely to assign higher probability to the myocardial infarction diagnosis if provided as an anchor (95% CI, 1.12-3.58; P = 0.020). Participants randomized to the hypoxia scenario as a hindsight case were 1.78 times more likely to assign higher probability to the mainstem bronchus intubation diagnosis if provided in the anchor statement (95% CI, 1.00-3.14; P = 0.048) and 3.72 times more likely to assign higher probability to the pulmonary edema diagnosis if provided as an anchor (95% CI, 1.88-7.35; P < 0.001). CONCLUSIONS: Hindsight bias influences the clinical diagnosis probabilities assigned by anesthesia providers. Clinicians should be educated on hindsight bias in perioperative medicine and be cognizant of the effect of hindsight bias when interpreting clinical outcomes.
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The transition period (TP), which extends from 3 weeks before 3 weeks post parturition, is a critical period regarding the health, productivity, and profitability of dairy animals, during which most health disorders arise, including lameness, mastitis, rumen acidosis, ketosis, hypocalcemia (HC) (milk fever), left-displaced abomasum, fatty liver, hypophosphatemia and post-parturient hemoglobinuria, subacute ruminal acidosis, RP, and metritis. Biomarkers are biological molecules distributed in blood, body fluids, or tissues that represent physiological or pathophysiological indicators of events, processes, or conditions happening within the animal's body. In the field of veterinary medicine, biomarkers are thought to have enormous valuable potential in the field of clinical diagnosis, therapeutical research, surgery, and obstetrical outcome. This review article aims to explore the significance of biomarkers used to predict pathological conditions and health status of cattle during the TP to facilitate the early clinical diagnosis and prompt treatment of TP-related diseases/or conditions and thus improve animal welfare and health and increase productivity.
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Biomarkers , Cattle Diseases , Animals , Biomarkers/blood , Cattle , Cattle Diseases/diagnosis , Cattle Diseases/blood , Female , Postpartum PeriodABSTRACT
Persistent Patent Ductus Arteriosus (PDA) is prevalent among extremely preterm infants, with its occurrence inversely related to gestational age. A persistent PDA correlates with increased mortality and morbidities such as intraventricular hemorrhage, pulmonary hemorrhage, chronic lung disease, bronchopulmonary dysplasia, and necrotizing enterocolitis as observed clinically. Conversely, numerous randomized controlled trials have failed to demonstrate significant benefits from PDA treatment. One contributing factor to these conflicting findings is that PDA affects each individual differently depending on the cardiovascular decompensation and its hemodynamic impact. PDA management should be based on the hemodynamic significance, rather than just the presence or size of PDA. This comprehensive narrative review paper describes echocardiographic parameters that allow a better understanding of the hemodynamic impact of PDA. A newer modality, like lung ultrasound, is also described here as an adjunct to assess the PDA impact on the lungs from pulmonary overcirculation.
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Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a common pelvic pain syndrome in males, seriously affecting patients' quality of life. For a long time, CP/CPPS has been considered a complex and variable disease, and its pathogenesis remains incompletely understood. Currently, CP/CPPS is believed to be a group of diseases characterized by pelvic pain or discomfort, urinary abnormalities, and other symptoms, each with its unique etiology, clinical characteristics, and outcomes, likely resulting from the action of pathogens or (and) certain non-infectious factors. Traditionally, CP/CPPS was thought to be unrelated to bacterial infections. However, in recent years, with the development of microbiology and the advancement of high-throughput sequencing technology, an increasing number of studies have suggested that microorganisms in the reproductive system may play an important role in the pathogenesis of CP/CPPS. The unique characteristics of CP/CPPS, such as its refractory nature and tendency to recur, may be closely related to the microbiota and their biological functions in the reproductive system. The relationship between CP/CPPS and reproductive system microorganisms is one of the current hot topics in microbiology and urology, receiving considerable attention from scholars in recent years and making a series of new advances. Through this review, we will comprehensively explore the relationship between CP/CPPS and reproductive system microorganisms, and look forward to future research directions, aiming to provide new ideas and methods for clinical diagnosis and treatment, thereby improving the treatment outcomes and quality of life of CP/CPPS patients.
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Microbiota , Pelvic Pain , Prostatitis , Prostatitis/microbiology , Humans , Male , Pelvic Pain/microbiology , Pelvic Pain/etiology , Animals , Quality of Life , Chronic Pain/microbiology , Chronic Pain/etiology , Genitalia/microbiology , Chronic DiseaseABSTRACT
Background and aim Millions suffer from anaemia worldwide, and systemic disorders like anaemia harm oral health. Anaemia is linked to periodontitis as certain inflammatory cytokines produced during periodontal inflammation can depress erythropoietin production leading to the development of anemia. Thus, detecting and treating it is crucial to tooth health. Hence, this study aimed to evaluate three different machine-learning approaches for the automated detection of anaemia using clinical intraoral pictures of a patient's gingiva. Methodology Orange was employed with squeeze net embedding models for machine learning. Using 300 intraoral clinical photographs of patients' gingiva, logistic regression, neural network, and naive Bayes were trained and tested for prediction and detection. Accuracy was measured using a confusion matrix and receiver operating characteristic (ROC) curve. Results In the present study, three convolutional neural network (CNN)-embedded machine-learning algorithms detected and predicted anaemia. For anaemia identification, naive Bayes had an area under curve (AUC) of 0.77, random forest plot had an AUV of 0.78, and logistic regression had 0.85. Thus, the three machine learning methods detected anaemia with 77%, 78%, and 85% accuracy, respectively. Conclusion Using artificial intelligence (AI) with clinical intraoral gingiva images can accurately predict and detect anaemia. These findings need to be confirmed with larger samples and additional imaging modalities.
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Immunoglobulin G (IgG) and immunoglobulin M (IgM) testing are commonly used to determine infection status. Typically, the detection of IgM indicates an acute or recent infection, while the presence of IgG alone suggests a chronic or past infection. However, relying solely on IgG and IgM antibody positivity may not be sufficient to differentiate acute from chronic infections. This limitation arises from several factors. The prolonged presence of IgM can complicate diagnostic interpretations, and false positive IgM results often arise from antibody cross-reactivity with various antigens. Additionally, IgM may remain undetectable in prematurely collected samples or in individuals who are immunocompromised, further complicating accurate diagnosis. As a result, additional diagnostic tools are required to confirm infection status. Avidity is a measure of the strength of the binding between an antigen and antibody. Avidity-based assays have been developed for various infectious agents, including toxoplasma, cytomegalovirus (CMV), SARS-CoV-2, and avian influenza, and are promising tools in clinical diagnostics. By measuring the strength of antibody binding, they offer critical insights into the maturity of the immune response. These assays are instrumental in distinguishing between acute and chronic or past infections, monitoring disease progression, and guiding treatment decisions. The development of automated platforms has optimized the testing process by enhancing efficiency and minimizing the risk of manual errors. Additionally, the recent advent of real-time biosensor immunoassays, including the label-free immunoassays (LFIA), has further amplified the capabilities of these assays. These advances have expanded the clinical applications of avidity-based assays, making them useful tools for the diagnosis and management of various infectious diseases. This review is structured around several key aspects of IgG avidity in clinical diagnosis, including: (i) a detailed exposition of the IgG affinity maturation process; (ii) a thorough discussion of the IgG avidity assays, including the recently emerged biosensor-based approaches; and (iii) an examination of the applications of IgG avidity in clinical diagnosis. This review is intended to contribute toward the development of enhanced diagnostic tools through critical assessment of the present landscape of avidity-based testing, which allows us to identify the existing knowledge gaps and highlight areas for future investigation.
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NUT Carcinomaï¼NCï¼ is a rare malignant tumor of unknown origin, which is highly aggressive. It is characterized by chromosome rearrangement accompanied by NUTM1 gene. The pathological manifestations were sudden and focal squamous in poorly differentiated or undifferentiated carcinoma. NUTM1gene rearrangement can be used to diagnose NC. The prognosis of NUT cancer is poor. Clinically, there is no established treatment plan. treatment options mainly comprise surgery, radiotherapy and chemotherapy. A 74-year-old patient with NC of the nasal cavity and sinuses was reported. Her clinical presentation was right nasal congestion with facial swelling. Sinus CT and MRI showed soft tissue density in the right nasal cavity and maxillary sinus with bone destruction. After admission, the patient underwent nasal endoscopic biopsy, and the postoperative pathological FISH staining showed BRD4/NUT fusion tï¼15, 19ï¼. The tumor was significantly reduced after two courses of sequential chemoradiotherapy. Two months later, the patient underwent a partial maxillary resection due to the rapid regrowth of sinusoidal mass, invading the hard palate. The patient died 2 months after surgery due to multiple organ failure resulted from tumor metastasis, with a survival time of 11 months. The clinical characteristics, diagnosis and treatment of this case were reported and related literature was reviewed.
Subject(s)
Nasal Cavity , Nose Neoplasms , Humans , Aged , Female , Nasal Cavity/pathology , Nose Neoplasms/therapy , Neoplasm Proteins/genetics , Nuclear Proteins/genetics , Oncogene Proteins, Fusion/genetics , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/therapy , Fatal Outcome , CarcinomaABSTRACT
Pancreatic masses are commonly encountered in clinical practice, with concern for the possibility of cancer. Tissue sampling or outright surgical resection may be offered in this setting. However, surgery has been unnecessarily performed in patients with pancreatic masses that proved to be benign. Less invasive options for pancreatic masses that may be benign like tuberculosis should thus be explored. Three adult Filipino patients less than 60 years old presented with symptomatic pancreatic masses suspected of cancer on abdominal imaging studies. Two were smokers without a history of prior tuberculosis. Without any tissue sampling, anti-tuberculosis treatment was eventually given to all three patients due to concomitant diagnoses of extrapancreatic tuberculosis. Endoscopic ultrasound documentation of post-treatment resolution of pancreatic masses was noted in all cases. In endemic regions, although clinical diagnosis of tuberculosis may be possible for pancreatic masses, empiric treatment should still be a last-line option in cases where tissue sampling cannot be done.