Significance For Early Diagnosis Research Articles

The prognosis and management of reclassified systemic lupus erythematosus associated pulmonary arterial hypertension according to 2022 ESC/ERS guidelines.

The 2022 European Society of Cardiology/European Respiratory Society (ESC/ERS) guideline has recently revised the hemodynamic definition of pulmonary arterial hypertension. However, there is currently limited research on the prognosis and treatment of system lupus erythematosus-associated pulmonary arterial hypertension (SLE-PAH) patients that have been reclassified by the new hemodynamic definition. This study aims to analyze the prognosis of newly reclassified SLE-PAH patients and provide recommendations for the management strategy. This retrospective study analyzed records of 236 SLE-PAH patients who visited Peking Union Medical College Hospital (PUMCH) from 2011 to 2023, among whom 22 patients were reclassified into mild SLE-PAH (mean pulmonary arterial pressure (mPAP) of 21-24mmHg, pulmonary vascular resistance (PVR) of 2-3 WU, and PAWP ≤ 15mmHg) according to the guidelines and 14 were defined as unclassified SLE-PAH patients (mPAP 21-24mmHg and PVR ≤ 2 WU). The prognosis was compared among mild SLE-PAH, unclassified SLE-PH, and conventional SLE-PAH patients (mPAP ≥ 25mmHg and PVR > 3WU). Besides, the effectiveness of pulmonary arterial hypertension (PAH)-specific therapy was evaluated in mild SLE-PAH patients. Those mild SLE-PAH patients had significantly longer progression-free time than the conventional SLE-PAH patients. Among the mild SLE-PAH patients, 4 did not receive PAH-specific therapy and had a similar prognosis as patients not receiving specific therapy. This study supports the revised hemodynamic definition of SLE-PAH in the 2022 ESC/ERS guideline. Those mild and unclassified SLE-PH patients had a better prognosis, demonstrating the possibility and significance of early diagnosis and intervention for SLE-PAH. This study also proposed a hypothesis that IIT against SLE might be sufficient for those reclassified SLE-PAH patients.

Significance of early diagnosis and surgical management in treating Mycobacterium immunogenum-related pyogenic extensor tenosynovitis: a case report

BackgroundNon-tuberculous mycobacteria (NTM) are environmental organisms that are increasingly contributing to human infections. Mycobacterium immunogenum, a variant of NTM discovered in 2001, is a rapidly growing mycobacterium that exhibits multidrug resistance. Reports of infections caused by this organism, particularly tenosynovitis in the musculoskeletal system, are limited.Case presentationA 71-year-old female with vesicular pemphigus, undergoing immunosuppressive therapy, presented with a progressively enlarging tumour on the dorsum of her right hand, along with erythematous papules that extended across her right forearm. The specimens of skin tissues and blood cultures revealed the presence of M. immunogenum. Magnetic resonance imaging evaluation led to the diagnosis of pyogenic extensor tenosynovitis. A multidrug regimen, comprising amikacin and clarithromycin, was initiated, followed by synovectomy. The patient underwent a course of 180 days of antimicrobial therapy and demonstrated no signs of disease recurrence one year after treatment completion.ConclusionEarly diagnosis and surgical intervention are crucial to prevent the adverse prognostic implications of pyogenic extensor tenosynovitis caused by M. immunogenum. Effective management requires precise microbial identification and susceptibility testing, necessitating collaborative engagement with microbiological laboratories.

Pap test: significance in early diagnosis of cervical cancer

Cervical cancer refers to a malignancy of the lower part of uterus i.e. cervix. It is the fourth most prevalent among women worldwide and tallies for about 30% of cancer cases in the developing world and 5% in the developed world.

Printed Divisional Optical Biochip for Multiplex Visualizable Exosome Analysis at Point-of-Care.

Rapid detection of various exosomes is of great significance in early diagnosis and postoperative monitoring of cancers. Here, a divisional optical biochip is reported for multiplex exosome analysis via combining the self-assembly of nanochains and precise surface patterning. Arising from resonance-induced near-field enhancement, the nanochains show distinct color changes after capturing target exosomes for direct visual detection. Then, a series of divisional nanochain-based biochips conjugated with several specific antibodies are fabricated through designed hydrophilic and hydrophobic patterns. Because of the significant wettability difference, one sample droplet is precisely self-splitting into several microdroplets enabling simultaneous identification of multiple target exosomes in 30min with a sensitivity of 6 × 107 particles mL-1 , which is about two orders lower than enzyme-linked immunosorbent assay. Apart from the trace amount detection, excellent semiquantitative capability is demonstrated to distinguish clinical exosomes from glioblastoma patients and healthy people. This method is simple, versatile, and highly efficient that can be extended as a diagnostic tool for many diseases, promoting the development of liquid biopsy.

A smartphone-based portable biosensor for colorimetric detection of porcine reproductive and respiratory syndrome virus

Porcine reproductive and respiratory syndrome virus (PRRSV) causes serious impacts on livestock farms worldwide, especially in the big pig-raising country of China. Development of fast and accurate PRRSV assay is of great significance in early diagnosis of PRRSV infection, which helps control large-scale disease transmission. Herein, we develop a portable and universal colorimetric biosensor for rapid detection of PRRSV with a smartphone-based platform. In the presence of target sequence, a sandwich structure is formed to anchor polydopamine-silver nanoparticles with pH indicators on cotton swabs. The amplified visual information can be captured and analyzed for accurate quantification within the range from 10 pM to 1 μM. Excellent analytical results are also validated challenging real tissue samples from PRRSV infected pigs. Meanwhile, the biosensor can be extended for nervous necrosis virus (NNV) detection from Plectropomus leopardus, demonstrating its great universal utility.

HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.

HCFC1 encodes transcriptional co-regulator HCF-1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X-linked cobalamin metabolism disorders and mental retardation-3. This study aimed to explore the role of HCFC1 variants in common epilepsy and the mechanism underlying phenotype heterogeneity. Whole-exome sequencing was performed in a cohort of 313 patients with idiopathic partial (focal) epilepsy. Functional studies determined the effects of the variants on the proteolytic maturation of HCF-1, cell proliferation and MMACHC expression. The role of HCFC1 variants in partial epilepsy was validated in another cohort from multiple centers. We identified seven hemizygous HCFC1 variants in 11 cases and confirmed the finding in the validation cohort with additional 13 cases and six more hemizygous variants. All patients showed partial epilepsies with favorable outcome. None of them had cobalamin disorders. Functional studies demonstrated that the variants in the proteolysis domain impaired the maturation by disrupting the cleavage process with loss of inhibition of cell growth but did not affect MMACHC expression that was associated with cobalamin disorder. The degree of functional impairment was correlated with the severity of phenotype. Further analysis demonstrated that variants within the proteolysis domain were associated with common and mild partial epilepsy, whereas those in the kelch domain were associated with cobalamin disorder featured by severe and even fatal epileptic encephalopathy, and those in the basic and acidic domains were associated with mainly intellectual disability. HCFC1 is potentially a candidate gene for common partial epilepsy with distinct underlying mechanism of proteolysis dysfunction. The HCF-1 domains played distinct functional roles and were associated with different clinical phenotypes, suggesting a sub-molecular effect. The distinct difference between cobalamin disorders and idiopathic partial epilepsy in phenotype and pathogenic mechanism, implied a clinical significance in early diagnosis and management.

A narrative review of identifying the culprit antibody in neuroimmune diseases: concept and clinical significance.

Neuroimmune disease is a group of autoimmune diseases that are directed against antigens of the nervous system. Autoantibody testing is of great significance in early diagnosis, clinical severity assessment, prognosis, and efficacy evaluation. With the discovery of new antibodies and the development of antibody detection techniques, multiple antibodies have been found to coexist in patients with neuroimmune diseases. In this narrative review, we aim to define the culprit antibody and discuss the correlation between culprit antibodies and the clinical phenotype of neuroimmune diseases. We searched Medline, Embase, Web of Science, and CNKI from inception to February 2021 to acquire references on the relationship between neuroimmune diseases and antibodies. Eligible articles were reviewed regarding the relationship between antibodies and phenotypes. By reviewing relevant references and discussion, we propose the concept of "culprit antibody", namely, the pathogenic antibody which has a corresponding causal relationship with one or more phenotypes during the course of a patient's neuroimmune disease. The proposal, significance, and relevant clinical research of culprit antibodies related to neuroimmune diseases are elaborated as the proposal of concept and determination points of casual relationship, association with clinical phenotypes and core phenotypes, the role in antibody overlapping syndrome in the same patient, and different stages. In the era of precision medicine, proposing the concept of culprit antibodies and clarifying relevant evidence chains are helpful for precise and effective immune intervention.

Smartphone-based photoelectrochemical immunoassay of prostate-specific antigen based on Co-doped Bi2O2S nanosheets

Portable and on-site detection of target biomarker is of great significance in early diagnosis of diseases. Herein, we designed a portable smartphone-based PEC immunoassay platform to detect prostate specific antigen (PSA) adopting Co-doped Bi2O2S nanosheets as photoactive materials. The fast photocurrent response under visible light and excellent electrical transport rate invest Co-doped Bi2O2S with the property of being effectively excited even under a weak light source. Therefore, with the incorporation of a carriable flashlight that act as the excitation light source, disposable screen-printed electrodes, a microelectrochemical workstation and a smartphone that served as control center, point-of-care analytical detection of low-abundance small molecule analytes was successfully realized. Specifically, a sandwich-type immunoreaction was performed using alkaline phosphatase labeled secondary antibody as signal indicator. In the presence of PSA, ascorbic acid as generated through a catalytic reaction, resulting in the enhancement of photocurrent intensity. The photocurrent intensity increased linearly with the logarithm of PSA concentrations ranging from 0.2 to 50 ng mL−1 with a detection limit of 71.2 pg mL−1 (S/N = 3). This system provided an effective method for the construction of portable and miniaturized PEC sensing platform for the application of point-of-care health monitoring.

Palindrome-Embedded Hairpin Structure and Its Target-Catalyzed Padlock Cyclization for Label-Free MicroRNA-Initiated Rolling Circle Amplification.

Highly sensitive detection of microRNAs (miRNAs) is of great significance in early diagnosis of cancers. Here, we develop a palindrome-embedded hairpin structure and its target-catalyzed padlock cyclization for rolling circle amplification, named PHP-RCA for simplicity, which can be applied in label-free ultrasensitive detection of miRNA. PHP-RCA is a facile system that consists of only an oligonucleotide probe with a palindrome-embedded hairpin structure (PHP). The two ends of PHP were extended as overhangs and designed with the complementary sequences of the target. Hence, the phosphorylated PHP can be cyclized by T4 DNA ligase in the presence of the target that serves as the ligation template. This ligation has formed a palindrome-embedded dumbbell-shaped probe (PDP) that allows phi29 polymerase to perform a typical target-primed RCA on PDP by taking miRNA as a primer, resulting in the production of a lengthy tandem repeat. Benefits from the palindromic sequences and hairpin-shaped structure in padlock double-stranded structures can be infinitely produced during the RCA reaction and provide numerous binding sites for SYBR Green I, a double-stranded dye, achieving a sharp response signal for label-free target detection. We have demonstrated that the proposed system exhibits a good linear range from 0.1 fM to 5 nM with a low detection limit of 0.1 fM, and the non-target miRNA can be clearly distinguished. The advantages of high efficiency, label-free signaling, and the use of only one oligonucleotide component make the PHP-RCA suitable for ultrasensitive, economic, and convenient detection of target miRNAs. This simple and powerful system is expected to provide a promising platform for tumor diagnosis, prognosis, and therapy.

Computational Models for Biomarker Discovery.

Alzheimer's disease (AD) is a prevalent and debilitating neurodegenerative disorder characterized by progressive cognitive decline. Early diagnosis and accurate prediction of disease progression are critical for developing effective therapeutic interventions. In recent years, computational models have emerged as powerful tools for biomarker discovery and disease prediction in Alzheimer's and other neurodegenerative diseases. This paper explores the use of computational models, particularly machine learning techniques, in analyzing large volumes of data and identifying patterns related to disease progression. The significance of early diagnosis, the challenges in classifying patients at the mild cognitive impairment (MCI) stage, and the potential of computational models to improve diagnostic accuracy are examined. Furthermore, the importance of incorporating diverse biomarkers, including genetic, molecular, and neuroimaging indicators, to enhance the predictive capabilities of these models is highlighted. The paper also presents case studies on the application of computational models in simulating disease progression, analyzing neurodegenerative cascades, and predicting the future development of Alzheimer's. Overall, computational models for biomarker discovery offer promising opportunities to advance our understanding of Alzheimer's disease, facilitate early diagnosis, and guide the development of targeted therapeutic strategies.

Correlation between serum levels of PTX-3, SIL-2R, inflammatory markers, and APACHE II scores in patients with severe acute pancreatitis.

To investigate the correlation of serum pentraxin 3 (PTX-3), soluble interleukin-2 receptor (SIL-2R), C-reactive protein (CRP), procalcitonin (PCT) levels, and acute physiology and chronic health evaluation II (APACHE II) scores in patients with severe acute pancreatitis (SAP). A total of 30 patients with SAP from October 2020 to October 2021 were selected as the SAP group, and 42 patients with mild acute pancreatitis (MAP) or moderate-severe acute pancreatitis (MSAP) was selected as the control group. The serum levels of PTX-3, SIL-2R, CRP, PCT, and APACHE II scores were evaluated. The serum levels of PTX-3, SIL-2R, CRP, PCT, and APACHE II scores at admission in the SAP group were significantly higher than those in the control group (all P < .05). Spearman analysis showed that serum PTX-3, SIL-2R, CRP, and PCT levels were positively correlated with APACHE II scores (all P < .05). The mortality rate within 28 days was 26.7% in the SAP group; moreover, the serum PTX-3, SIL-2R, CRP, and PCT levels and APACHE II scores at admission in the death group were significantly higher than those in the survival group (all P < .05). The receiver operating curve showed that the combined prediction value of all indicators (PTX-3 + SIL-2R + CRP + PCT + APACHE II) was superior to the single indicators, and the diagnostic sensitivity and specificity were 90.9% and 84.2%, respectively. Serum PTX-3, SIL-2R, CRP, and PCT levels and APACHE II scores have high guiding significance in early diagnosis and prognostic evaluation of SAP patients.

Hot-Spot-Specific Probe (HSSP) for Rapid and Accurate Detection of KRAS Mutations in Colorectal Cancer.

Detection of oncogene mutations has significance for early diagnosis, customized treatment, treatment progression, and drug resistance monitoring. Here, we introduce a rapid, sensitive, and specific mutation detection assay based on the hot-spot-specific probe (HSSP), with improved clinical utility compared to conventional technologies. We designed HSSP to recognize KRAS mutations in the DNA of colorectal cancer tissues (HSSP-G12D (GGT→GAT) and HSSP-G13D (GGC→GAC)) by integration with real-time PCR. During the PCR analysis, HSSP attaches to the target mutation sequence for interference with the amplification. Then, we determine the mutation detection efficiency by calculating the difference in the cycle threshold (Ct) values between HSSP-G12D and HSSP-G13D. The limit of detection to detect KRAS mutations (G12D and G13D) was 5–10% of the mutant allele in wild-type populations. This is superior to the conventional methods (≥30% mutant allele). In addition, this technology takes a short time (less than 1.5 h), and the cost of one sample is as low as USD 2. We verified clinical utility using 69 tissue samples from colorectal cancer patients. The clinical sensitivity and specificity of the HSSP assay were higher (84% for G12D and 92% for G13D) compared to the direct sequencing assay (80%). Therefore, HSSP, in combination with real-time PCR, provides a rapid, highly sensitive, specific, and low-cost assay for detecting cancer-related mutations. Compared to the gold standard methods such as NGS, this technique shows the possibility of the field application of rapid mutation detection and may be useful in a variety of applications, such as customized treatment and cancer monitoring.

C Reactive Protein and Procalcitonine as Diagnostic Markers in Critically Ill Patients with Suspected Sepsis

Abstract The primary aim of this retrospective study was to estimate significance of determining C-reactive protein and procalcitonine for a diagnosis of sepsis in adult patients in early triage. Also, the aim of this study was to measure the sensitivity of the SIRS criteria, PCT and CRP levels and sepsis definitions to identify the most serious sepsis cases in the prehospital setting and at the Emergency Department (ED) triage. All patients were divided into two groups according to specific criteria for defining sepsis. First group (SIRS+ group) of patients were patients with clinically and/or laboratory confirmed sepsis (or systemic inflammatory response syndrome (SIRS) to bacterial infection with different localization). For confirmation of the SIRS we consider positive two or more clinical criteria (≥2 clinical criteria). The SIRS criteria use the clinical criteria of the Surviving Sepsis Campaign (SSC) for the SIRS, comprising at least two of the following criteria: HR &gt; 90/min, RR &gt; 20/min and temperature &lt; 36° or ≥ 38.3°C and the next laboratory parameters such as leucocytosis &gt; 15x109/L, leucopenia &lt; 4x109/L, &gt; 10% immature leucocytes. Second group of patients were patients with the SIRS negative criteria as a diagnostic tool (SIRS- group). We have founded that the CRP showed high sensitivity but no specificity in patients with sepsis, but on the other side, the PCT as a diagnostic marker showed a high sensitivity and high specificity in these patients. Also, the PCT is in positive correlation with the SIRS criteria, which could be of a clinical significance in early diagnosis of septic infections.

AIE-based fluorescent micro-optical sectioning tomography for automatic 3D mapping of β-amyloid plaques in Tg mouse whole brain

Rapid verification and three-dimensional (3D) mapping of β-amyloid (Aβ) plaques in mouse whole brain is of great significance in early diagnosis of Alzheimer’s disease (AD) due to the intricate relationship of Aβ plaques with their surrounding microenvironment. Previously reported fluorescent labelling to locate Aβ plaques usually require lengthy permeation/staining/washing procedures to eliminate non-specific binding and improve fluorescence signal-to-noise ratio, which is inaccessible to automatic brain wide 3D imaging. Here we report a kind of water-soluble fluorescent probes with aggregation-induced emission (AIE) activities, named AIEgens, which can rapidly permeate and stain Aβ plaques of transgenic (Tg) mouse brain sections into 8 μm of depth within 1 min. The excellent water-solubility, specificity and sensitivity of AIEgens for Aβ plaques enable rapid staining and washing-free imaging of brain sections. The automatic 3D mapping of Aβ plaques in Tg mouse’s whole brain is implemented through the cycling process of in situ real-time mechanical sectioning, staining and imaging with AIEgens in fluorescent micro-optical sectioning tomography (fMOST) system. The AIE-based fMOST, which integrates the in-situ staining/imaging/sectioning steps of Tg mouse’s whole brain, provides an automatic 3D mapping solution to access the size, morphology and 3D distribution of Aβ plaques in mouse whole brain, which would help to explore the correlation between Aβ structure and neurodegenerative activity.

Phenotypes and ATP7B gene variants in 316 children with Wilson disease

Objectives: To summarize the clinical phenotypes and the variation spectrum of ATP7B gene in Chinese children with Wilson's disease (WD) and to investigate their significance for early diagnosis. Methods: Retrospective analysis was performed on the clinical data of 316 children diagnosed as WD in Guangzhou Women and Children's Medical Center during the period from January 2010 to June 2021. The general situations, clinical manifestations, lab test results, imaging examinations, and ATP7B gene variant characteristics were collected. The patients were divided into asymptomatic WD group and symptomatic WD group based on the presence or absence of clinical symptoms at the time that WD diagnosis was made. The χ2 test, t test or Mann-Whitney U test were used to compare the differences between groups. Results: Among the 316 children with WD, 199 were males and 117 were females, with the age of 5.4 (4.0, 7.6) years at diagnosis; 261 cases (82.6%) were asymptomatic with the age of 4.9 (3.9, 6.4) years; whereas 55 cases (17.4%) were symptomatic with the age of 9.6 (7.3, 12.0) years. The main symptoms invloved liver, kidney, nervous system, or skin damage. Of all the patients, 95.9% (303/316) had abnormal liver function at diagnosis; 98.1% (310/316) had the serum ceruloplasmin lever lower than 200 mg/L; 97.7% (302/309) had 24-hour urine copper content exceeding 40 μg; only 7.4% (23/310) had positive corneal K-F rings, 8.2% (23/281) had abnormal MRI signals in the lenticular nucleus, and all of them had symptoms of damage in liver, kidney or nervous system. Compared with the group of symptomatic WD, asymptomatic group had higher levels of serum alanine aminotransferase and lower levels ceruloplasmin and 24-hour urine copper [(208±137) vs. (72±78) U/L, (55±47) vs. (69±48) mg/L, 103 (72, 153) vs. 492 (230, 1 432) μg; t=9.98, -1.98, Z=-4.89, all P<0.001]. Among the 314 patients completing genetic sequencing, a total of 107 mutations in ATP7B gene were detected, of which 10 are novel variants, and 3 cases (1.0%) had large heterozygous deletion (exons 10 to exon 11) in ATP7B gene. The percentage of missense mutation in asymptomatic WD children was significantly higher than that in symptomatic WD (81.5% (422/518) vs. 69.1% (76/110), χ²=8.47, P<0.05). WD patients carrying homozygous variant of c.2 333G>T had significantly low levels of ceruloplasmin than those not carrying this variant ((23±5) vs. (61±48) mg/L, t=-2.34, P<0.001). Conclusions: The elevation of serum ALT is an important clue for early diagnosis of WD in children, while serum ceruloplasmin and 24-hour urine copper content are specific markers for early diagnosis of WD. In order to confirm the diagnosis of WD, it is necessary to combine the Sanger sequencing with multiplex ligation-dependent probe amplification or other testing technologies.

Hereditary Hemochromatosis: A Cardiac Perspective.

Hereditary hemochromatosis (HH) is a common genetic metabolic disorder characterized by excessive iron absorption and elevated serum iron levels, which accumulate in various organs, such as the heart, pancreas, gonads, and damage these organs. There are only a few articles and clinical studies describing the characteristics of cardiac involvement in HH along with the significance of early diagnosis and management in preventing complications. In this review article, we have reviewed multiple pieces of literature and gathered available information regarding the subject. We compiled the data to investigate the importance of early detection of symptoms, regular monitoring, and prompt management with strict adherence to reverse or prevent complications. This article has reviewed different aspects of cardiac hemochromatosis, such as pathogenesis, clinical presentation, diagnosis, and management. Recognition of early symptoms, diagnosis of cardiac involvement with various modalities, and implementation of early treatment are essentially the foundation of better outcomes in HH.

Experimental study on the expression and diagnostic significance of I-FABP in acute intestinal ischemia

Objective: To detect the expression and distribution of I-FABP in intestinal tissue and the changes of serum concentrations at different time of acute intestinal ischemia, and explore the significance and mechanism of I-FABP in early diagnosis of acute ischemic bowel disease. Methods: The selected 96 healthy adult SD rats were randomly divided into the experimental group and control group; 48 in each group. Each group was randomly subdivided into 6 groups with 8 rats in each group. The superior mesenteric artery was ligated in the experimental group and the peritoneal switch operation was performed in the control group. The venous blood samples were extracted from each group rats’ right ventricle at 0.5 h, 1 h, 2 h, 4 h, 8 h, 12 h after the operation and the concentration of I-FABP was tested respectively. Then the rats were killed, and the diseased intestinal tubes were cut out for paraffin sections. The I-FABP in intestinal tissue was stained by routine HE staining and direct immunofluorescence staining. Results: The I-FABP was mainly expressed in the epithelial villi of intestinal mucosa, and there was a small amount of expression in the intestinal submucosa and even the muscularis. Within 1 hour of intestinal ischemia, the number of I-FABP positive granules in the intestine and intestinal cavity increased gradually, and then gradually decreased after 1 hour. The difference has statistically significant between the experimental group and the control group (P &lt; 0.05). The serum I-FABP: In the experimental group, the serum I-FABP concentration began to increase at 0.5 h, and reached a peak at 1 h (290. 24 ± 156.69) μg·L–1, then gradually decreased. Compared with the control group, the difference was statistically significant (P &lt; 0.05). Conclusion: I-FABP usually mainly exists in the epithelial cells of intestinal mucosa. When acute intestinal ischemia occurs, the epithelial cells of intestinal mucosa permeability changes; I-FABP expression rapidly releases to intestinal tissue and intestinal cavity, and is absorbed into the blood. Therefore, I-FABP has certain clinical significance in early diagnosis and treatment of acute intestinal ischemia.

Bioinformatics Analysis Identifies Molecular Markers Regulating Development and Progression of Endometriosis and Potential Therapeutic Drugs.

Endometriosis, a common disease that presents as polymorphism, invasiveness, and extensiveness, with clinical manifestations including dysmenorrhea, infertility, and menstrual abnormalities, seriously affects quality of life in women. To date, its underlying etiological mechanism of action and the associated regulatory genes remain unclear. This study aimed to identify molecular markers and elucidate mechanisms underlying the development and progression of endometriosis. Specifically, we downloaded five microarray expression datasets, namely, GSE11691, GSE23339, GSE25628, GSE7305, and GSE105764, from the Gene Expression Omnibus (GEO) database. These datasets, obtained from endometriosis tissues, alongside normal controls, were subjected to in-depth bioinformatics analysis for identification of differentially expressed genes (DEGs), followed by analysis of their function and pathways via gene ontology (GO) and KEGG pathway enrichment analyses. Moreover, we constructed a protein–protein interaction (PPI) network to explore the hub genes and modules, and then applied machine learning algorithms support vector machine-recursive feature elimination and least absolute shrinkage and selection operator (LASSO) analysis to identify key genes. Furthermore, we adopted the CIBERSORTx algorithm to estimate levels of immune cell infiltration while the connective map (CMAP) database was used to identify potential therapeutic drugs in endometriosis. As a result, a total of 423 DEGs, namely, 233 and 190 upregulated and downregulated, were identified. On the other hand, a total of 1,733 PPIs were obtained from the PPI network. The DEGs were mainly enriched in immune-related mechanisms. Furthermore, machine learning and LASSO algorithms identified three key genes, namely, apelin receptor (APLNR), C–C motif chemokine ligand 21 (CCL21), and Fc fragment of IgG receptor IIa (FCGR2A). Furthermore, 16 small molecular compounds associated with endometriosis treatment were identified, and their mechanism of action was also revealed. Taken together, the findings of this study provide new insights into the molecular factors regulating occurrence and progression of endometriosis and its underlying mechanism of action. The identified therapeutic drugs and molecular markers may have clinical significance in early diagnosis of endometriosis.

Morphological Study of Color Doppler Ultrasound Imaging to Observe the Effect of Ocular Fundus Surgery

High myopia continues to progress and the eye axis continues to grow, resulting in mechanical dilatation of the eyeball wall, and with the increase of age, resulting in a variety of myopic fundus pathological changes. Considering that in the late stage of fundus disease, patients can obviously feel the impact of the disease on vision, and ophthalmologists are needed for direct diagnosis, intervention and treatment. The impact of early lesions on vision is relatively weak, and patients can not detect the emergence of these lesions in time, which can only be found by fundus survey. Therefore, the automatic detection of early lesions of fundus disease (especially microaneurysms) is not only of great significance for early diagnosis and early treatment of fundus disease, but also a good reference for the detection of other fundus diseases. In this paper, color ultrasound can effectively analyze the origin of fundus diseases. The results showed that with the changes of age, eye axis and posterior sclera shape in high myopia, the area and range of myopic arc and choroidal atrophy arc expanded, the thickness of nerve fiber and choroid became thinner, and the fovea of macula mainly shifted vertically. In addition, it was also found that myopic arc, choroidal atrophic arc area, retinal thickness, nerve fiber thickness, choroidal thickness, vertical distance from macular fovea to optic disc center were correlated with age and eye axis.

Pulp Stones: Diagnostic Significance in Early Diagnosis and Radiographic Correlation with Ischemic Heart Diseases.

Context and Aim Sufficient evidence exists in the literature which indicates that patients with ischemic heart diseases (IHDs) show higher degree of pulp calcifications. The present study was, therefore, planned to estimate the prevalence of pulp stones in patients diagnosed with/or undergoing treatment for IHDs. Materials and Methods The present study, which consisted of 300 subjects within the age range of 25 to 65 years, was divided into two groups: study group comprising 150 patients (113 males and 37 females) and 150 age- and sex-matched healthy controls. Pulp stones were imaged using bitewing radiographs and paralleling technique under standard conditions. Statistical Analysis Used Statistical analysis was done using IBM SPSS Statistics for Windows version 21 (IBM Corp, Armonk, USA), while independent t -test and Chi-square test were done to check the prevalence of pulp stones in the study and control groups, based on gender-, arch-, region- and side-wise distribution. p < 0.05 was considered statistically significant. Results The patients with IHDs exhibited 100% prevalence of pulp stones and the difference was found to be statistically significant, although there was a significant difference in the mean number of pulp stones observed in the study and control groups, with the study group revealing 2217 pulp stones as against 639 pulp stones observed in the control group ( p < 0.001). Furthermore, maxillary arch and posterior teeth were predominantly affected in both the groups, although the difference was not found to be statistically significant. Conclusions The findings of the present study suggested a positive correlation between pulp stones and IHDs, highlighting the significance of dental radiographic examination, which may have a possibility for an early detection of IHDs.