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Purpose: To develop deep learning models using thoracoscopic images to identify visceral pleural invasion (VPI) in patients with clinical stage I lung adenocarcinoma, and to verify if these models can be applied clinically. Methods: Two deep learning models, one based on a convolutional neural network (CNN) and the other based on a vision transformer (ViT), were applied and trained via 463 images (VPI negative: 269 images, VPI positive: 194 images) captured from surgical videos of 81 patients. Model performances were validated via an independent test dataset containing 46 images (VPI negative: 28 images, VPI positive: 18 images) from 46 test patients. Results: The areas under the receiver operating characteristic curves of the CNN-based and ViT-based models were 0.77 and 0.84 (p = 0.304), respectively. The accuracy, sensitivity, specificity, and positive and negative predictive values were 73.91, 83.33, 67.86, 62.50, and 86.36% for the CNN-based model and 78.26, 77.78, 78.57, 70.00, and 84.62% for the ViT-based model, respectively. These models' diagnostic abilities were comparable to those of board-certified thoracic surgeons and tended to be superior to those of non-board-certified thoracic surgeons. Conclusion: The deep learning model systems can be utilized in clinical applications via data expansion. [ABSTRACT FROM AUTHOR]

This pragmatic review synthesises the current understanding of prodromal dementia with Lewy bodies (pDLB) and prodromal Alzheimer's disease (pAD), including clinical presentations, neuropsychological profiles, neuropsychiatric symptoms, biomarkers, and indications for disease management. The core clinical features of dementia with Lewy bodies (DLB)—parkinsonism, complex visual hallucinations, cognitive fluctuations, and REM sleep behaviour disorder are common prodromal symptoms. Supportive clinical features of pDLB include severe neuroleptic sensitivity, as well as autonomic and neuropsychiatric symptoms. The neuropsychological profile in mild cognitive impairment attributable to Lewy body pathology (MCI-LB) tends to include impairment in visuospatial skills and executive functioning, distinguishing it from MCI due to AD, which typically presents with impairment in memory. pDLB may present with cognitive impairment, psychiatric symptoms, and/or recurrent episodes of delirium, indicating that it is not necessarily synonymous with MCI-LB. Imaging, fluid and other biomarkers may play a crucial role in differentiating pDLB from pAD. The current MCI-LB criteria recognise low dopamine transporter uptake using positron emission tomography or single photon emission computed tomography (SPECT), loss of REM atonia on polysomnography, and sympathetic cardiac denervation using meta-iodobenzylguanidine SPECT as indicative biomarkers with slowing of dominant frequency on EEG among others as supportive biomarkers. This review also highlights the emergence of fluid and skin-based biomarkers. There is little research evidence for the treatment of pDLB, but pharmacological and non-pharmacological treatments for DLB may be discussed with patients. Non-pharmacological interventions such as diet, exercise, and cognitive stimulation may provide benefit, while evaluation and management of contributing factors like medications and sleep disturbances are vital. There is a need to expand research across diverse patient populations to address existing disparities in clinical trial participation. In conclusion, an early and accurate diagnosis of pDLB or pAD presents an opportunity for tailored interventions, improved healthcare outcomes, and enhanced quality of life for patients and care partners. [ABSTRACT FROM AUTHOR]

Microfluidic Paper‐based Analytical Devices (µPADs) have emerged as a new class of microfluidic systems, offering numerous advantages over traditional microfluidic chips. These advantages include simplicity, cost‐effectiveness, stability, storability, disposability, and portability. As a result, various designs for different types of assays are developed and investigated. In recent years, µPADs are combined with conventional detection methods to enable rapid on‐site detection, providing results comparable to expensive and sophisticated large‐scale testing methods that require more time and skilled personnel. The application of µPAD techniques is extensive in environmental quality control/analysis, clinical diagnosis, and food safety testing, paving the way for on‐site real‐time diagnosis as a promising future development. This review focuses on the recent research advancements in the design, fabrication, material selection, and detection methods of µPADs. It provides a comprehensive understanding of their principles of operation, applications, and future development prospects. [ABSTRACT FROM AUTHOR]

Background: The intersection of artificial intelligence (AI) with cancer research is increasing, and many of the advances have focused on the analysis of cancer images. Objectives: To describe and synthesize the literature on the diagnostic accuracy of AI in early imaging diagnosis of cervical cancer following Preferred Reporting Items for Systematic Reviews and Meta‐Analyses Extension for Scoping Reviews (PRISMA‐ScR). Search Strategy: Arksey and O'Malley methodology was used and PubMed, Scopus, and Google Scholar databases were searched using a combination of English and Spanish keywords. Selection Criteria: Identified titles and abstracts were screened to select original reports and cross‐checked for overlap of cases. Data Collection and Analysis: A descriptive summary was organized by the AI algorithm used, total of images analyzed, data source, clinical comparison criteria, and diagnosis performance. Main Results: We identified 32 studies published between 2009 and 2022. The primary sources of images were digital colposcopy, cervicography, and mobile devices. The machine learning/deep learning (DL) algorithms applied in the articles included support vector machine (SVM), random forest classifier, k‐nearest neighbors, multilayer perceptron, C4.5, Naïve Bayes, AdaBoost, XGboots, conditional random fields, Bayes classifier, convolutional neural network (CNN; and variations), ResNet (several versions), YOLO+EfficientNetB0, and visual geometry group (VGG; several versions). SVM and DL methods (CNN, ResNet, VGG) showed the best diagnostic performances, with an accuracy of over 97%. Conclusion: We concluded that the use of AI for cervical cancer screening has increased over the years, and some results (mainly from DL) are very promising. However, further research is necessary to validate these findings. Synopsis: The role of artificial intelligence in cervical cancer screening has grown, showing promising results, particularly in deep learning. However, further research is required to validate these findings. [ABSTRACT FROM AUTHOR]

Background: Polycystic ovary syndrome (PCOS) is a highly prevalent endocrine–metabolic disorder in women of reproductive age. Diagnosis is based on the evidence-based international guideline 2018 and the Rotterdam Consensus to classify PCOS phenotypes. This study aims to characterize the biodemographic, clinical, metabolic, and reproductive variables and their relationship with PCOS phenotypes in a population from the Ecuadorian Andes. Methodology: A cross-sectional study was conducted with a non-random consecutive sample of 92 women who attended the outpatient gynecology and endocrinology clinic at the Hospital of the Technical University of Loja (UTPL)—Santa Inés, Loja, Ecuador, between January 2022 and July 2023. Descriptive statistics, mean calculations, standard deviation, parametric and nonparametric tests, odds ratios (OR), confidence intervals (CI), and p-values were employed. Results: The average age was 22 ± 3.4 years, with a predominantly mestizo, urban, single, highly educated, and medium–high socioeconomic level population. It was identified that phenotypes A + B are at a higher risk of developing oligomenorrhea and hypertriglyceridemia compared to phenotypes C + D, with statistically significant differences (p < 0.05). Furthermore, in terms of reproductive variables, phenotypes A + B exhibit a significantly higher frequency of elevated anti-Müllerian hormone (AMH) compared to phenotypes C + D, also with statistical significance (p < 0.05). Conclusions: The classical phenotypes A and B of PCOS are the most common in Ecuadorian Andean women and carry a higher risk of insulin resistance, anovulation, metabolic disorders, and elevated triglyceride levels compared to phenotypes C and D. Ethnic diversity and sociocultural habits influence the prevalence and clinical manifestations of these phenotypes. [ABSTRACT FROM AUTHOR]

Background: This study investigated the association between Anti-Müllerian Hormone (AMH) and relevant metabolic parameters and assessed its predictive value in the clinical diagnosis of polycystic ovarian syndrome (PCOS). Methods: A total of 421 women aged 20–37 years were allocated to the PCOS (n = 168) and control (n = 253) groups, and their metabolic and hormonal parameters were compared. Spearman correlation analysis was conducted to investigate associations, binary logistic regression was used to determine PCOS risk factors, and receiver operating characteristic (ROC) curves were generated to evaluate the predictive value of AMH in diagnosing PCOS. Results: The PCOS group demonstrated significantly higher blood lipid, luteinizing hormone (LH), and AMH levels than the control group. Glucose and lipid metabolism and hormonal disorders in the PCOS group were more significant than in the control group among individuals with and without obesity. LH, TSTO, and AMH were identified as independent risk factors for PCOS. AMH along with LH, and antral follicle count demonstrated a high predictive value for diagnosing PCOS. Conclusion: AMH exhibited robust diagnostic use for identifying PCOS and could be considered a marker for screening PCOS to improve PCOS diagnostic accuracy. Attention should be paid to the effect of glucose and lipid metabolism on the hormonal and related parameters of PCOS populations. [ABSTRACT FROM AUTHOR]

Background Quality indicators (QIs) can be used to obtain valuable insights into prescribing quality. Five quantitative and nine diagnosis-linked QIs, aiming to provide general practitioners (GP) with feedback on their antibiotic prescribing quantity and quality, were previously developed and evaluated in a controlled study. Objective To confirm, in a larger non-controlled study, the feasibility of using routinely collected and extracted electronic patient records to calculate the diagnosis-linked QI outcomes for antibiotic prescribing, and their reliability and validity. Methods Retrospective study involving 299 Dutch general practices using routine care data (2018–2020). QIs describe total antibiotic and subgroup prescribing, prescribing percentages and first-choice prescribing for several clinical diagnoses. Practice variation in QI outcomes, inter-QI outcome correlations and sensitivity of QI outcomes to pandemic-induced change were determined. Results QI outcomes were successfully obtained for 278/299 practices. With respect to reliability, outcomes for 2018 and 2019 were comparable, between-practice variation in outcomes was similar to the controlled pilot, and inter-QI outcome correlations were as expected, for example: high prescribing of second choice antibiotics with low first-choice prescribing for clinical diagnoses. Validity was confirmed by their sensitivity to pandemic-induced change: total antibiotic prescribing decreased from 282 prescriptions/1000 registered patients in 2018 to 216 in 2020, with a decrease in prescribing percentages for upper and lower respiratory infections, from 26% to 18.5%, and from 28% to 16%. Conclusions This study confirmed the fit-for-purpose (feasibility, reliability and validity) of the antibiotic prescribing QIs (including clinical diagnosis-linked ones) using routinely registered primary health care data as a source. This feedback can therefore be used in antibiotic stewardship programmes to improve GPs' prescribing routines. [ABSTRACT FROM AUTHOR]

Background: Urinary tract infections (UTIs) are a leading bacterial infection in the emergency department (ED). Diagnosing UTIs in the ED can be challenging due to the heterogeneous presentation; therefore, fast and precise tests are needed. We aimed to evaluate the diagnostic precision of procalcitonin (PCT), soluble urokinase plasminogen activator receptors (suPARs), and C-reactive protein (CRP) in diagnosing UTIs, grading the severity of UTIs, and ruling out bacteremia. Methods: We recruited adults admitted to three Danish EDs with suspected UTIs. PCT, suPAR, and CRP were used in index tests, while blood cultures, expert panel diagnosis, and severity grading were used in the reference tests. Logistic regression and area under the receiver operator characteristic curves (AUROCs) were utilized to evaluate the models and determine the optimal cut-offs. Results: We enrolled 229 patients. PCT diagnosed UTI with an AUROC of 0.612, detected severe disease with an AUROC of 0.712, and ruled out bacteremia with an AUROC of 0.777. SuPAR had AUROCs of 0.480, 0.638, and 0.605, while CRP had AUROCs of 0.599, 0.778, and 0.646. Conclusions: The diagnostic performance of PCT, suPAR, or CRP for UTIs or to rule out severe disease was poor. However, PCT can safely rule out bacteremia in clinically relevant numbers in ED patients suspected of UTI. [ABSTRACT FROM AUTHOR]

Early clinical diagnosis, effective intraoperative guidance, and an accurate prognosis can lead to timely and effective medical treatment. The current conventional clinical methods have several limitations. Therefore, there is a need to develop faster and more reliable clinical detection, treatment, and monitoring methods to enhance their clinical applications. Raman spectroscopy is noninvasive and provides highly specific information about the molecular structure and biochemical composition of analytes in a rapid and accurate manner. It has a wide range of applications in biomedicine, materials, and clinical settings. This review primarily focuses on the application of Raman spectroscopy in clinical medicine. The advantages and limitations of Raman spectroscopy over traditional clinical methods are discussed. In addition, the advantages of combining Raman spectroscopy with machine learning, nanoparticles, and probes are demonstrated, thereby extending its applicability to different clinical phases. Examples of the clinical applications of Raman spectroscopy over the last 3 years are also integrated. Finally, various prospective approaches based on Raman spectroscopy in clinical studies are surveyed, and current challenges are discussed. [ABSTRACT FROM AUTHOR]

Onychomycosis is an under-recognized healthcare burden. Despite the risk of misdiagnosis, confirmatory laboratory testing is under-utilized. Histopathologic examination with polymerase chain reaction (PCR) is currently the most effective diagnostic method; it offers direct detection and identification of a fungal invasion. In this retrospective cohort study, we assessed confirmatory testing results, with matching clinical diagnoses, in 96,293 nail specimens submitted during a 9-month period from 2022 to 2023. Toenail specimens were examined using fungal culture, histopathology and/or PCR. Clinical diagnoses were identified using the International Classification of Diseases 10th Revision codes. For clinically diagnosed onychomycosis patients, the overall positivity rate was 59.4%; a similar positivity rate (59.5%) was found in patients with clinically diagnosed non-fungal nail dystrophy. Performing a histopathologic examination with PCR was more likely to provide pathogen identification results than using fungal culture. Male patients had a higher rate of onychomycosis overall; however, female patients had more non-dermatophyte mold onychomycosis caused by Aspergillus. Clinically diagnosed onychomycosis patients with a co-diagnosis of tinea pedis were more likely to test positive for onychomycosis by PCR (odds ratio [OR]: 4.2; 95% confidence interval [CI]: 2.7–6.4), histopathology (OR: 2.5; 95% CI: 2.0–3.1) and fungal culture (OR: 3.2; 95% CI: 1.5–6.6). Our results support the use of confirmatory laboratory testing when there is a clinical diagnosis of onychomycosis. [ABSTRACT FROM AUTHOR]

Diagnosing health-related issues, environment monitoring, meteorology, and detecting toxic reagents are serious issues to be taken care of with the assistance of a suitable sensor. This review explores the competence of molybdenum disulfide within the sensing province. The physical and chemical properties of molybdenum disulfide have been discussed thoroughly in order to justify its suitability as an electrochemical sensing material. A detailed outline of various synthesis techniques used to prepare molybdenum disulfide has been explored. In this work, an overview of the materials which have been detected by employing molybdenum disulfide-based nanocomposites is given. The main highlight of this review is to explore electrochemical sensing applications of molybdenum disulfide-based nanocomposites in multiple sectors. Further issues are discussed, giving future scope to emerging researchers to work in this field. [ABSTRACT FROM AUTHOR]

Optical microscopy is a ubiquitous tool in the physical and life sciences and in histopathology, where visible light microscopy is used to analyse clinical tissue sections at the micron scale to help diagnose diseases. In recent years, microscope technologies have dramatically evolved, but these have generally come with increased cost and complexity. To widen access to advanced microscopy capabilities, we have developed a cost-effective modular platform for optical microscopy (www.openscopes. com). Many of these instruments can be based around a new low-cost and flexible microscope stand, 'open-Frame', for which the core components are open source. openFrame can support implementations of a wide range of microscope modalities for diverse applications, including research, pathology and training. Unlike many commercial microscopes that are often designed for specific applications and cannot be easily upgraded or adapted for different imaging modalities, openFramebased instruments can be relatively easily maintained, upgraded or adapted to another modality without requiring manufacturer support. To this end, openFramebased instruments are envisaged to operate with opensource software, enabling researchers to assemble and modify their microscopes with minimal challenges presented by proprietary (closed) hardware or software. Here, we describe the implementation of a low-cost, research-grade modular optical microscope applicable to research and pathology. [ABSTRACT FROM AUTHOR]

We report a case of drug‐induced lung injury treated with prior atezolizumab and subsequent sotorasib. The patient was a 62‐year‐old woman with lung adenocarcinoma harbouring a KRAS G12C mutation that was resistant to chemotherapy, including immune checkpoint inhibitors. Cough and dyspnea appeared on day 80 after sotorasib was administered as second‐line therapy, and chest computed tomography revealed ground glass opacities in all lung lobes. Bronchoalveolar lavage fluid showed an increased total cell count with lymphocyte predominance. The patient was considered to have lung injury caused by prior atezolizumab or sotorasib administration. Withdrawal of sotorasib did not improve symptoms and shadows in both lungs. We administered moderate‐dose prednisolone and the lung disorder quickly resolved. Prednisolone tapering was completed in 2 months, followed by several months without relapse. Definitive identification of the responsible drug for the drug‐induced lung injury proved challenging in the setting of exposure to multiple potential inciting agents. There is a need for high levels of clinical suspicion for timely evaluation and management.We report a case of drug‐induced lung injury treated with prior atezolizumab and subsequent sotorasib. Definitive identification of the responsible drug for the drug‐induced lung injury proved challenging in the setting of exposure to multiple potential inciting agents. There is a need for high levels of clinical suspicion for timely evaluation and management. [ABSTRACT FROM AUTHOR]

Aim: Whether sex differences exist in hereditary progeroid syndromes remains unclear. In this study, we investigated sex differences in patients with Werner syndrome (WS), a model of human aging, using patient data at the time of diagnosis. Methods: The presence of six cardinal signs in the diagnostic criteria was retrospectively evaluated. Results: We found that the percentage of patients with all cardinal signs was higher in males than in females (54.2% vs. 21.2%). By the age of 40 years, 57.1% of male patients with WS presented with all the cardinal signs, whereas none of the female patients developed all of them. In particular, the frequency of having a high‐pitched, hoarse voice, a characteristic of WS, was lower in female patients. The positive and negative predictive values for clinical diagnosis were 100% for males and females, indicating the helpfulness of diagnostic criteria regardless of sex. More female patients than male (86.7% vs. 64%) required genetic testing for their diagnosis because their clinical symptoms were insufficient, suggesting the importance of genetic testing for females even if they do not show typical symptoms of WS. Finally, the frequency of abnormal voice was lower in patients with WS harboring the c.3139‐1G > C homozygous mutation. Conclusion: These results indicate, for the first time, that there are sex differences in the phenotypes of hereditary progeroid syndromes. The analysis of this mechanism in this human model of aging may lead to the elucidation of sex differences in the various symptoms of normal human aging. Geriatr Gerontol Int 2024; 24: 161–167. [ABSTRACT FROM AUTHOR]

Introduction: Segmental resection of the intestine and its temporary or permanent bypass is a frequent procedure in surgical practice, which involves the construction of a stoma. The disease that leads to surgery, the clinical conditions of the patient and the technical aspects in the construction of the ostomy are key points in the postoperative evolution. Methods: A review of the literature was performed, identifying the complications associated with the construction of stomas, with the aim of offering treatment and decision-making tools to the medical personnel involved in the care of these patients. Results: Emergency surgery, immunosuppression, obesity, and the technique used to open the orifice in the abdominal wall favor the appearance of early complications that require medical management or surgical reintervention. Conclusions. Every patient with a stoma must be carefully evaluated by the surgeon and the enterostomal therapist in the first 72 hours after surgery. [ABSTRACT FROM AUTHOR]

Background and objective: To research the prevalence of hepatic abscesses at our facility. To examine the Age and Sex distribution. to examine the clinical characteristics based on variations in symptoms and symptomatology. To determine the disease's microbiology. To shed light on the role that radiological imaging plays in making a diagnosis and organising treatment appropriately. to classify the disease's mode of therapy. Method: On 100 patients who were enrolled in the trial throughout the time, a study was conducted at Department of General Surgery, Deccan College of Medical Sciences, Hyderabad, Telangana, India from to December 2022 to October 2023. Ultrasonography was used to confirm the clinical diagnosis of hepatic abscess in these patients. Result: Men are more common than women. 6:1 ratio; 5 th decade is peak incidence. Eighty four percent of cases had alcohol as the cause. The most prevalent clinical features are abdominal pain (96%) and soreness (72%), with the typical mode of presentation being observed in 81% of patients. Sixty five percent of cases had a right lobe abscess. Aspiration is the most often used therapeutic method (45%). Conclusion: According to an ultrasound, the abscess in the current study had completely disappeared after three to four months; in our series, individuals with lower socioeconomic status account for roughly 70% of all abscesses examined. [ABSTRACT FROM AUTHOR]

Surface-enhanced Raman scattering (SERS) has been recognized as one of the most sensitive analytical methods by adsorbing the target of interest onto a plasmonic surface. Growing attention has been directed towards the fabrication of various substrates to broaden SERS applications. Among these, flexible SERS substrates, particularly paper-based ones, have gained popularity due to their easy-to-use features by full contact with the sample surface. Herein, we reviewed the latest advancements in flexible SERS substrates, with a focus on paper-based substrates. Firstly, it begins by introducing various methods for preparing paper-based substrates and highlights their advantages through several illustrative examples. Subsequently, we demonstrated the booming applications of these paper-based SERS substrates in abiotic and biological matrix detection, with particular emphasis on their potential application in clinical diagnosis. Finally, the prospects and challenges of paper-based SERS substrates in broader applications are discussed. [ABSTRACT FROM AUTHOR]

A wide range of analytical strategies and approaches have been developed, accomplishing significant advances in searching for efficient, fast, reliable, sensitive, and accurate protocols for sample analysis in recent decades. Chemical sensors are also low-cost, portable, and ecologically friendly, making them a preferred method of choice for a broad spectrum of sample analysis in various matrices of complexity. Of particular interest are sensors based on fluorescent molecules, nanoparticles, nanoclusters, quantum dots, carbon nanotubes, molecularly imprinted polymers, sol-gels, dyes, porphyrins, ionic liquids, organized media, and fluorescent sensor arrays in microfluidic chips. This review highlights and provides concise and in-depth coverage of recent innovations, challenges, advances, and applications of a variety of fluorescence-based sensors for sample analysis between 2018 and 2022. Emphasis is placed on instrumentation design and the applications of sensors in analytical, environmental, pharmaceutical, agricultural, food, and forensic sample analysis. Recent innovations and the practical utility of fluorescent chemical sensors relevant to biological systems, biomedical sample measurements, and clinical diagnosis are extensively reviewed. Future directions and trajectories of fluorescent chemical sensors for various utilities, applications, and sample measurements are highlighted and discussed. [ABSTRACT FROM AUTHOR]

Introduction: ectopic pregnancy is currently a world of health problem. The increase in its incidence is attributed to the difficulties in the diagnosis that are often presented and to the morbidity and mortality that derive from it. It is one of the first causes of death in the first quarter of pregnancy. Objective: assess ectopic pregnancy as a clinical dilemma for diagnosis. Methods: a narrative bibliographic review was carried out that included various texts, articles, printed and digital materials related to ectopic pregnancy. The databases and directories Scielo, Lilacs, Latindex, Medline and Scopus were consulted, through the keywords in Spanish and Bollean operators to expand the results: "Hemorrhages" and "Ectopic pregnancy". 22 original and review articles were selected, in the national and international context, published between 2000 and 2020. Development: in every nosological illness a good interrogation and a physical examination favor the diagnosis, however difficult it may be. Following the steps of the clinical method helps to obtain an appropriate and timely diagnosis. It is transcendental that the doctor knows the pathophysiology and the clinical elements in ectopic pregnancy, which can go to look in an exquisite interrogation and a detailed physical examination. Conclusions: the diversity of possible clinical presentations has led to "the great simulator of gynecology", so it constitutes a clinical dilemma its diagnosis in the different levels of health care. [ABSTRACT FROM AUTHOR]

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing data from nearly 10 000 individuals recruited within the Genomics England sequencing project to investigate the normal and pathogenic variation of the RFC1 repeat. We identified three novel repeat motifs, AGGGC (n = 6 from five families), AAGGC (n = 2 from one family) and AGAGG (n = 1), associated with CANVAS in the homozygous or compound heterozygous state with the common pathogenic AAGGG expansion. While AAAAG, AAAGGG and AAGAG expansions appear to be benign, we revealed a pathogenic role for large AAAGG repeat configuration expansions (n = 5). Long-read sequencing was used to characterize the entire repeat sequence, and six patients exhibited a pure AGGGC expansion, while the other patients presented complex motifs with AAGGG or AAAGG interruptions. All pathogenic motifs appeared to have arisen from a common haplotype and were predicted to form highly stable G quadruplexes, which have previously been demonstrated to affect gene transcription in other conditions. The assessment of these novel configurations is warranted in CANVAS patients with negative or inconclusive genetic testing. Particular attention should be paid to carriers of compound AAGGG/AAAGG expansions when the AAAGG motif is very large (>500 repeats) or the AAGGG motif is interrupted. Accurate sizing and full sequencing of the satellite repeat with long-read sequencing is recommended in clinically selected cases to enable accurate molecular diagnosis and counsel patients and their families. [ABSTRACT FROM AUTHOR]

This study aims to analyze the history of substances use, clinical diagnoses, contacts with healthcare, and health complaints. Also, it aims to compare the health status of substance users versus non-users. Health records of 93 detained women from a prison in northern Portugal, with a mean age of 38.02 years old, were reviewed and coded using both International Classification of Primary Care—2 and International Classification of Diseases—10th. Data revealed high percentages of detainees with a history of substance use and pre-existing clinical diagnosis. During the first month of imprisonment, on average, participants had complained to a health professional 14.63 times. Substance users were younger and presented more mental health problems and health complaints. Health policies and professional practices in prison must include immediate assessment of a woman's health concerns and foster the development of efficient protocols to address those problems, especially substance use disorder treatment. [ABSTRACT FROM AUTHOR]

This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers. The average assertiveness was 47%, with GSD Ia and Ib being the best-identified types, while no expert correctly identified GSD IXc. Underage investigation for later manifestations, incomplete clinical description, and complementary analysis, the overvaluation of a specific clinical finding ("false positive") or the discarding of the diagnosis in the absence of it ("false negative"), as well as the lack of knowledge of the rarest GSD types, may have impacted the accuracy of the assessment. This study emphasized that characteristics considered as determinants in identifying the specific types or subtypes of GSD are not exclusive, thus becoming factors that may have induced the evaluators to misdiagnose. [ABSTRACT FROM AUTHOR]

Objective The aim of this study was to investigate the serum levels of CA242 in different types of gynecological diseases and its clinical significance. Methods A total of 1021 patients with gynecological diseases and 499 healthy female controls were included in the study. The serum CA242 levels were detected and median value, −log10 P value, and positive rate were calculated. Serum CA125 and HE4 levels of patients with ovarian lesions were measured, and the predictive value for ovarian cancer was statistically analyzed. Results Higher serum CA242 levels were observed in patients with mature teratoma, ovarian cancer, and other gynecological tumor diseases than in healthy controls. In contrast, the CA242 levels in patients with cervical intraepithelial neoplasia, uterine polyps, or endometrial hyperplasia were comparable to that of controls. Moreover, serum CA242 expression was increased in malignant uterine and ovarian diseases compared with benign ones (P  < .05). Specifically, combining CA242, CA125, and HE4 yielded a higher area under the receiver operating characteristic curve than single biomarkers (P  < .05). Conclusion Heterogeneous increases in tumor marker CA242 expression levels are observed in different gynecological diseases, suggesting its potential value for clinical diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: One of the millennium challenges worldwide is to fight the advance of the human immunodeficiency virus/aids. Objective: To characterize the sick population with clinical onset of AIDS according to sociodemographic and epidemiologic variables. Methods: An observational and descriptive study was carried out, from 2017 to 2021, of 87 people diagnosed with clinical onset of AIDS in Santiago de Cuba province. In the statistical analysis, measures of central tendency and dispersion were used, as well as the distribution of absolute and relative frequencies; also, confidence intervals of 95% were computed for the proportions of selected variables. Results: The average age in the series was 42 years (79.3%), likewise, there was a prevalence of the male sex (91.9%), single as marital status (91.9%), working bond (72.4%), mixed race (52.8%) and black skin color (39.3%), and the urban origin (73.5%). The anal coitus was the main way of infection (84.0%), while the majority of the affected individuals of both sexes (65.2% in males and 66.7% in females) did not use condoms and homosexuality predominated among men (55.0%). Conclusions: The clinical onset of AIDS prevailed in young and single men, with working bond, among whom risky sexual behaviors were very significant. [ABSTRACT FROM AUTHOR]

Introduction: In the continuous training process of medical students, it is necessary to incorporate current issues; likewise, it is important to know the problems to seek solutions with the science support. Objective: To diagnose the training process of medical students as for the detection of incapacitating sequelae post-COVID-19. Methods: An observational, descriptive and cross-sectional study, with qualitative approach, of 20 students from 5th year of Medicine career, belonging to the University of Medical Sciences in Camagüey was carried out during their stay for the Public Health subject, from July to December, 2022. For such a purpose it was designed and applied an evaluative instrument with dimensions and indicators. Results: It was found that 50.0% of these students were in the age range of 21-26 years, while 65.0% were female. The cognitive dimension was evaluated as bad because 3 indicators, of the 4 that made it up, received that qualification; the same happened with the instrumental dimension. On the other hand, the attitudinal dimension and its 2 indicators were qualified as good. Conclusions: Inadequacies existed in the training process of medical students, which block their professional performance. On the base of the diagnosis, the interest in searching for information related to the detection of post-COVID-19 incapacitating sequelae is confirmed as strength. [ABSTRACT FROM AUTHOR]

Background: Misidentification of dementia in Medicare claims is quite common. Objective: We examined potential race/ethnic disparities in misidentification of dementia in Medicare claims in a diverse cohort of older adults who underwent careful clinical assessment. Methods: Participants were enrolled in the Washington Heights-Inwood Columbia Aging Project (WHICAP), a multiethnic, population-based, prospective study of cognitive aging in which dementia status was assessed using a rigorous clinical protocol. ICD-9-CM and ICD-10-CM diagnosis codes in all available Medicare claims (1999–2019) were compared to clinical dementia diagnosis and categorized into three mutually exclusive groups: 1) congruent-, 2) over-, and 3) under- identification during the study period. Multinomial logistic regression model was used to examine the relationship between race (White, African American/Black, other) and ethnicity (Hispanic/Latinx, non-Hispanic/Latinx) and congruency of dementia identification after controlling for clinical (cognition, function, comorbidities) and demographic characteristics (age, sex, education), and inpatient and outpatient utilization. Results: Across all person-years, 88.4% had congruent identification of dementia compared to clinical diagnosis, in 4.1% of the times participants were over-identified with dementia, and 7.5% of the times the participants were under-identified. Rates of misidentification was higher in minority participants than in White, non-Hispanic participants. Multivariable estimation results showed that the probability of over-identification with dementia was 2.2% higher for African American/Black than White (p = 0.05) and 2.7% higher for Hispanic participants than non-Hispanics (p = 0.03) participants. Differences in under-identification by race/ethnicity were not statistically significant. Conclusions: African American/Black and Hispanic participants were more likely over-identified with dementia in Medicare claims. [ABSTRACT FROM AUTHOR]

In the interest of preventing the Coronavirus Disease 2019 (COVID-19) pandemic from spreading, it is crucial to promptly identify and confine afflicted patients. Serological antibody testing is a significant diagnostic technique that is increasingly employed in clinics, however its clinical use is still being investigated. The present study was carried out to scrutinize how well Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) antibody testing using in-house developed rapid antibody assay worked against the chemiluminescence (CLIA) assay. Either IgG positive (IgG + IgM-) or IgM positive (IgM + IgG-); both IgG and IgM positive (IgM + IgG+); and negatives (IgM- IgG-) have been evaluated. A total of 300 samples with diverse age and sexual identity data were included. The combined sensitivities for IgG + IgM+, IgM + IgG-, IgG + IgM- and IgG-IgM- were evaluated. More accurate diagnostic results may be obtained using molecular diagnostic tools. The Antibody Rapid Diagnostic kit's (in-house developed) performance was satisfactory for determining the presence of Covid-19 infection with IgG and IgM positivity. The IgG and IgM positivity helped evaluate the immune response in the individual for the COVID-19 infection. These results lend support to the additional utilisation of serological antibody tests in the COVID-19 diagnosis. Key points: • We performed an archival research analysis to check Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) antibody testing. • We determined the presence of Covid-19 infection with IgG/IgM positivity. [ABSTRACT FROM AUTHOR]

The process of uncontrolled fatal growth of tissue that invades its surrounding parts is called cancer. The cancer in breast is the most commonly encountered cancer among women. It accounts for millions of deaths around the globe. Early detection of breast cancer by ultrasound (US)-based diagnosis can have major positive influence on life expectancy of a patient. Unlike other diagnosis methods, the US-based diagnosis is harmless, economical, and allows frequent use. Only limitation it has is the presence of noise. So, we propose an US denoising technique named log exponential shrinkage (LES). In LES, US image was initially processed for additive noise. A scale-based thresholding function and a novel speckle noise variance estimator are the main contribution of this study. The estimator utilizes sub-band coefficients of a transformed image to evaluate the noise intensity. The threshold to filter out the noisy coefficient was calculated using the noise variance. Ultimately, the thresholding exponential function was used to modify noisy coefficients. The efficiency of LES was compared with other denoising techniques in terms of no-reference, full reference quality metrics and edge preservative metrics. The performance was tested on one synthetic image and two breast cancer datasets. To comprehend the extent of advancement by LES, a percentage improvement table has been provided in the study, having 300% better results. The novel estimator has improved the error in estimation by 95.8% at the optimal noise intensity. With such promising results, LES might find application in breast cancer diagnosis using US. [ABSTRACT FROM AUTHOR]

Background Syphilis diagnosis relies on immunologic markers and clinical protocols. However, syphilitic lesions can be confused with other genital ulcer diseases. Methods Using a PlexPCR VHS assay, we analyzed lesion DNA samples from 87 individuals who were clinically diagnosed with early syphilis infection and had at least 1 positive serologic test result. DNA was detected by the PlexPCR VHS multiplex assay and β-globin genes. Results Among the participants, 99% (86/87) had a positive rapid treponemal test result. DNA was successfully detected in 91% (79/87) of the lesion samples. PlexPCR VHS identified 5 herpes simplex virus (HSV)/ Treponema pallidum coinfections (2 HSV-1 and 3 HSV-2), only T pallidum DNA in 62% (49/79), and only HSV-2 in 12.7% (10/79). While 19% (15/79) were negative for all pathogens, none were varicella zoster virus positive. The PlexPCR VHS had 68.4% agreement with the clinical diagnosis. Conclusions Since the PlexPCR VHS detects multiple organisms simultaneously, it can help to confirm actual syphilis and identify other pathogen coinfections or the pathogen causing the ulcer. [ABSTRACT FROM AUTHOR]

ADRD underdiagnosis among minority populations is well-established and known to be more prevalent among women. Yet, it remains unclear if these patterns exist among adults of Middle Eastern and North African (MENA) descent. We estimated ADRD underdiagnosis among adults of MENA descent and other US- and foreign-born non-Hispanic Whites and compared sex-stratified results. We linked 2000–2017 National Health Interview Survey and 2001–2018 Medical Expenditure Panel Survey data (ages > = 65 years, n = 23,981). Undiagnosed ADRD was suspected if participants reported cognitive limitations without corresponding ADRD diagnosis. Undiagnosed ADRD was highest among adults of MENA descent (15.8%) compared to non-Hispanic Whites (US-born = 8.1%; foreign-born = 11.8%). Women of MENA descent had 2.52 times greater odds (95% CI = 1.31–4.84) of undiagnosed ADRD compared to US-born White women after adjusting for risk factors. This study contributes the first national estimates of undiagnosed ADRD among adults of MENA descent. Continued research is needed to facilitate policy changes that more comprehensively address health disparities and related resource allocation. [ABSTRACT FROM AUTHOR]

This letter, published in the Archives of Dermatological Research, discusses the clinical presentation of Fibroepithelioma of Pinkus (FeP), a variant of basal cell carcinoma. The authors conducted a retrospective analysis of FeP cases at the University of California, San Francisco and compared their findings with previous reports. They found that FeP has a diverse range of clinical presentations and is often misdiagnosed due to its similarity to benign lesions. The study also found no significant difference in the incidence of FeP between males and females. [Extracted from the article]

In recent years, unreasonable feed ratio in farms and excessive concentrate lead to rumen microbial flora imbalance, rumen metabolites enter the body circulation through blood or lymphatic vessels, causing rumen acidosis. Rumen acidosis seriously affects the production performance of cattle, the mortality rate is high, and the harm to cattle is greater. In the paper, the pathogenesis, clinical symptoms, diagnosis and treatment, drug prevention, nutrition regulation and other aspects of rumen acidosis were discussed, aiming to improve the level of fine management of cattle feeding and reduce the incidence of acidosis by formulating nutrition regulation strategies, so as to provide reference for maintaining the health of cattle. [ABSTRACT FROM AUTHOR]

Tinnitus detection and characterization requires a carefully elaborated diagnosis mainly owing to its heterogeneity nature. The present investigation aims to find features in Electroencephalographic (EEG) signals from time and frequency domain analysis that could distinguish between healthy and tinnitus sufferers with different levels of hearing loss. For this purpose, 24 volunteers were recruited and equally divided into four groups: 1) controls, 2) slow tinnitus, 3) middle tinnitus and 4) high tinnitus. EEG signals were registered in two states, with eyes closed and opened for 60 seconds. EEG analysis was focused on two bandwidths: delta and alpha band. For time domain, the EEG features estimated were mean, standard deviation, kurtosis, maximum peak, skewness and shape. For frequency domain, the EEG features obtained were mean, skewness, power spectral density. Normality of EEG data was evaluated by the Lilliefors test, and as a result, the nonparametric technique Kruskal-Wallis H statistic to test significance was applied. Results show that EEG features are more differentiable between tinnitus sufferers and controls in frequency domain than in time domain. EEG features from tinnitus patients with high HL are significantly different from the rest of the groups in alpha frequency band activity when shape and skewness are computed. [ABSTRACT FROM AUTHOR]

Introduction: Lesions in the oral mucosa constitute a heterogeneous group of disorders which prognosis and treatment depend on the early diagnosis. Objective: To characterize patients with lesions in the oral mucosa according to clinical, epidemiological, histological and pathological variables. Methods: A descriptive, longitudinal and prospective study of 23 patients with lesions in the oral mucosa was carried out. They belonged to the family doctor offices from Vista Alegre neighborhood and were assisted in the Stomatology Service of Dr. Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba from September, 2021 to June, 2022. Results: In the series there was a prevalence of the female sex, the 60 years and over age group, subprosthesis stomatitis as more frequent lesion (39.1%) and chronic traumatisms as risk factors (65.2%); also, in patients referred to the secondary care level there was coincidence between the clinical, histological and pathological diagnoses (76.9%). Conclusions: The final diagnosis will depend on the clinical, epidemiological, histological and pathological valuation of these lesions and on the preparation of the specialists on the topic. [ABSTRACT FROM AUTHOR]

Introduction: Leprosy also widely known by the name Hansen's disease is a chronic disease caused by Mycobacterium leprae affecting mankind with various clinico-pathological forms. It remained a major public health issue due to associated case load, morbidity and stigma attached to it. India declared elimination of leprosy in the year 2005. However, it is surprising to see that in some parts of the country, the prevalence is still significant. The objective of the study is to describe the spectrum of histopathological profile of leprosy and compare its correlation with clinical diagnosis in this post elimination era. Methods: A 24-months prospective study was conducted with clinically diagnosed leprosy cases in a tertiary care hospital in eastern India. Lesions were graded and the histopathological slides along with its bacteriological index (BI) on slit skin smears where possible was reviewed and analyzed. Agreement of histopathological finding with clinical finding was established. Results: A total of 220 cases were included in the study. On histopathology, borderline category was the most frequently reported with borderline tuberculoid the most common subtype. Most common clinical feature was hypopigmented plaque, followed by erythematous skin lesions, nodules, macules etc. Bacteriological index was studied in 192 slit skin smears. Moderate agreement between clinical and histopathological diagnosis with kappa measure of inter-rater agreement as 0.457 was noted. Conclusion: Clinico-histopathological correlation is pivotal in the accurate diagnosis of leprosy to prevent, treat, and control the resurgence of the disease in the post-elimination era. [ABSTRACT FROM AUTHOR]

[Display omitted] • The current review describes bacterial classification using SERS for the identification of pathogens for clinical application diagnosis. • This review provides a brief overview of the mechanism and evolution of the SERS diagnostic principle for pathogenic bacteria. • Discussed the several novel SERS-compatible technologies in clinical applications and computational challenges of pre-processing spectra. • Its highlights the limitations and perspectives of the SERS technique. • It summarizes the potential applications for direct bacterial diagnosis in clinical samples such as blood, urine and sputum. The rapid and reliable detection of pathogenic bacteria at an early stage is a highly significant research field for public health. However, most traditional approaches for pathogen identification are time-consuming and labour-intensive, which may cause physicians making inappropriate treatment decisions based on an incomplete diagnosis of patients with unknown infections, leading to increased morbidity and mortality. Therefore, novel methods are constantly required to face the emerging challenges of bacterial detection and identification. In particular, Raman spectroscopy (RS) is becoming an attractive method for rapid and accurate detection of bacterial pathogens in recent years, among which the newly developed surface-enhanced Raman spectroscopy (SERS) shows the most promising potential. Recent advances in pathogen detection and diagnosis of bacterial infections were discussed with focuses on the development of the SERS approaches and its applications in complex clinical settings. The current review describes bacterial classification using surface enhanced Raman spectroscopy (SERS) for developing a rapid and more accurate method for the identification of bacterial pathogens in clinical diagnosis. The initial part of this review gives a brief overview of the mechanism of SERS technology and development of the SERS approach to detect bacterial pathogens in complex samples. The development of the label-based and label-free SERS strategies and several novel SERS-compatible technologies in clinical applications, as well as the analytical procedures and examples of chemometric methods for SERS, are introduced. The computational challenges of pre-processing spectra and the highlights of the limitations and perspectives of the SERS technique are also discussed. Taken together, this systematic review provides an overall summary of the SERS technique and its application potential for direct bacterial diagnosis in clinical samples such as blood, urine and sputum, etc. [ABSTRACT FROM AUTHOR]

Conventional techniques for microbial detection are time-consuming, expensive, and unsuitable. The use of nanoparticles is a valuable technique for the detection of bacterial as well as viral DNA. Gold nanoparticles (gold NPs) have been used as a promising detector for rapid and low-cost identification of microbes with high sensitivity. In this study, gold nanoparticles-probes were used to identify Pseudomonas aeruginosa and Acinetobacter baumannii genomic DNA. Thiol-functionalized probes were attached to gold NPs. Hybridization of the probe with the amplified product of Oprl and glta genes resulted in accumulation of gold nanoparticles in a cross-linked manner, caused a color change of the reaction mixture, which indicated the presence of Pseudomonas aeruginosa and Acinetobacter baumannii in the sample. To study the sensitivity, the polymerase chain reaction product with different bacteria was used, and results were compared. The gold nanoparticle-based colorimetric assay can be used as a direct and rapid method with high sensitivity for specific identification of these pathogens in clinical and food samples. [ABSTRACT FROM AUTHOR]

Introduction: Appendicitis is the most common abdominal emergency. While the clinical diagnosis may be straight forward in patients who present with classic signs and symptoms, atypical presentations may result in diagnostic confusion and delay in treatment. Abdominal pain is the primary presenting complaint of patients with acute appendicitis. Nausea, vomiting, and anorexia occur in varying degrees. Abdominal examination reveals localised tenderness and muscular rigidity after localisation of the pain to the right iliac fossa. Laboratory data upon presentation usually reveal an elevated leukocytosis. Measurement of C-reactive protein is most likely to be elevated. The advances in imaginology trend to diminish the false positive or negative diagnosis. In experienced hands, ultrasound may have a sensitivity of 90% and specificity higher than 90%. Despite all medical advances, the diagnosis of acute appendicitis continues to be a medical challenge. Materials and Methods: The present study was a cross-sectional study. This Study was conducted from June 2021 to May 2022 at Department of General Surgery, Jorhat Medical College and Hospital. Result: In our study, the peak incidence of Acute appendicitis is found in the age group of 15-20 years and 21-30 years. Male to female ratio is 1:1.9. Pain in the right iliac region (98%) is seen followed by Anorexia (74%) then Vomiting(72%) are the most common symptoms. Tenderness in the Right iliac region (98%) is seen followed by elevated temperatur (64%) and Rebound Tenderness in the right iliac fossa (58%) are the commonest sign. Some special signs like Pointing signs (74%), Dunphy's signs(64%) are most commonly found. The mean WBC (mm) (mean±s.d.) of patients was 11628.0000± 3789.7305. The mean CRP (mean±s.d.) of patients was 25.5444± 39.5294. (62.0%) patients had Aperstaltic blind end tube, non compressible, outer diameter > 6mm . The mean Alvarado's Score (mean±s.d.) of patients was 6.4400± 1.2316. Conclusion: We found that, the initial step of diagnosis of acute appendicitis is mainly clinical. On application of Alvarado score, the diagnostic sensitivity is increased. The addition of White blood cells count, C - reactive protein and Abdominal ultrasonography increased the diagnostic accuracy further [ABSTRACT FROM AUTHOR]

Background: Diagnoses are crucial assets of clinical work and provide the foundation for treatment and follow up. They should be informative and customized to the patient's problem. Common prefixes, morphemes, and suffixes may aid the implementation of expressions that generate diagnoses. Results: Apt choices of symbols plays a major role in science. In this study, the variables e, o, and p are assigned to names of an etiological agent, a disorder, and a pathogenetic mechanism, respectively. The suffix -itis designates infections, allergies, inflammation, and/or immune reactions. Diagnoses (d) are generated by the formula d:= e&o&p where '&' means concatenation and ':= ' means assignment. Thus, with e:= 'Staphylococcus aureus ', o:= 'endocard', and p:= 'itis', d:= e&o&p generates the diagnosis d = 'Staphylococcus aureus endocarditis'. Diagnoses formed this way comply with common clinical diagnoses. Certain extensions generate complete, systematic medical diagnoses that are applicable to all medical specialties. For example, common medical prefixes, morphemes, and suffixes give rise to o = 'hypothyroidism', o = 'tachycardia', and o = 'hypophagocytosis'. The formula scales well with the developments in clinical medicine, systems biology, molecular biology, and microbiology. The diagnosis generating formula d:= e&o&p requires meticulous analysis of the components of diagnoses plus the introduction of appropriate variables and terms. Terms partition on established clinical categories and adhere to established clinical nomenclature. The syntax generates universal medical diagnoses. Conclusions: The present study concerns a universal diagnosis syntax (UDS) that generates diagnoses using the formula d:= e&o&p with several extensions described in the study. The formula is easy to learn and covers diagnoses in all medical specialties. The present work succeeded in creating diagnoses from the formula. The fundamental insight is that no matter how complicated a diagnosis is it can be generated by a systematic process, which adds terms one by one. UDS may have implications for medical education and classifications. The formula lays a foundation for structured clinical decision-making. Formulas are hallmarks of hard science. So, d:= e&o&p anticipates a scientific medical revolution. [ABSTRACT FROM AUTHOR]

Background: Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis. The clinical investigations and genetic testing needed to establish a diagnosis are outlined, and current management approaches are discussed, focusing on the importance of the involvement of an interdisciplinary team from diagnosis and initial care to long-term follow-up and support. Results: The effective management of IRDs requires a multidisciplinary, and ideally interdisciplinary, team of experts knowledgeable about IRDs, with experienced professionals from fields as diverse as ophthalmology, neuropsychiatry, psychology, neurology, genetics, orthoptics, developmental therapy, typhlology, occupational therapy, otolaryngology, and orientation and mobility specialties. Accurate clinical diagnosis encompasses a range of objective and subjective assessments as a prerequisite for the genetic testing essential in establishing an accurate diagnosis necessary for the effective management of IRDs, particularly in the era of gene therapies. Improvements in genome sequencing techniques, such as next-generation sequencing, have greatly facilitated the complex process of determining IRD-causing gene variants and establishing a molecular diagnosis. Genetic counseling is essential to help the individual and their family understand the condition, the potential risk for offspring, and the implications of a diagnosis on visual prognosis and treatment options. Psychological support for patients and caregivers is important at all stages of diagnosis, care, and rehabilitation and is an essential part of the multidisciplinary approach to managing IRDs. Effective communication throughout is essential, and the patient and caregivers' needs and expectations must be acknowledged and discussed. Conclusion: As IRDs can present at an early age, clinicians need to be aware of the clinical signs suggesting visual impairment and follow up with multidisciplinary support for timely diagnoses to facilitate appropriate therapeutic or rehabilitation intervention to minimize vision loss. [ABSTRACT FROM AUTHOR]

To analyze the knowledge of Brazilian pediatricians about cow's milk protein allergy (CMPA) using a validated questionnaire. Quantitative study with a cross-sectional design in which an online questionnaire on CMPA knowledge was applied. The sample calculation indicated 1024 participants. The online form was divided into two blocks, the first comprising questions on the identification of pediatricians, and the second comprising the validated questionnaire, built from the Brazilian Consensus on Food Allergy (2018). The general evaluation of the questionnaire showed a percentage of agreement of 91% and a Content Validity Index of 0.95. The results of the applied questionnaires were presented in absolute and relative frequencies, mean, median, standard deviation, and percentiles. The level of significance was set at 5% (p <0.05). The validated questionnaire was answered by 1316 Brazilian doctors, of whom 1017 (77.3%) were females, and their mean age was 45.50 ± 13.20 years. The mean total number of correct answers was 80.66 ± 10.42%. Pediatricians mostly answered questions about the concept and treatment of CMPA. The question with the lowest rate of correct answers was related to clinical and laboratory investigation. Most physicians who answered the questionnaire demonstrated they understood the concept and the main CMPA therapeutic recommendations. [ABSTRACT FROM AUTHOR]

Syphilis is a sexually transmitted bacterial disease that has shown a significant increase in its incidence in recent years, both in Brazil and around the world. The disease can be transmitted sexually (acquired) or congenitally. The main route of transmission of the disease is sexual. When not treated initially, the infection becomes systemic and, in many cases, exhibits manifestations in the oral mucosa, allowing the establishment of the diagnosis through confirmation by laboratory tests. The great variability of clinical presentations of its oral lesions may make its identification difficult, so it is essential to know the characteristics of syphilis for a correct diagnosis. The identification of oral manifestations can help in the early diagnosis, which is of great importance for the correct treatment of this infection, as if it is not treated in time, it can result in morbidity and even mortality. In this study, five cases of secondary syphilis with different clinical manifestations in the buccal region are presented. The etiopathogenesis, the evolution of the disease, the useful tests for diagnosis and treatment are discussed. The role of the dental surgeon is increasingly evident as part of a multidisciplinary healthcare team. Therefore, it is necessary to prepare for orientation, reception, early identification of the lesions, and targeting a day of treatment of this infection. [ABSTRACT FROM AUTHOR]

Tau protein plays a crucial role in diagnosing neurodegenerative diseases. However, performing an assay to detect tau protein on a nanoscale is a great challenge for early diagnosis of diseases. Enzyme-linked immunosorbent assay (ELISA), western-blotting, and molecular-based methods, e.g., PCR and real-time PCR, are the most widely used methods for detecting tau protein. These methods are subject to certain limitations: the need for advanced equipment, low sensitivity, and specificity, to name a few. With the above said, it is necessary to discover advanced and novel methods for monitoring tau protein. Counted among remarkable approaches adopted by researchers, biosensors can largely eliminate the difficulties and limitations associated with conventional methods. The main objective of the present study is to review the latest biosensors developed to detect the tau protein. Furthermore, the problems and limitations of conventional diagnosis methods were discussed in detail. [ABSTRACT FROM AUTHOR]

Nonobstructive azoospermia (NOA) is one of the most important causes of male infertility, accounting for 10–15% of infertile men worldwide. Among these, more than 70% of cases are idiopathic NOA (iNOA), whose pathogenesis and molecular basis remain unknown. This work profiles 3696 human testicular single‐cell transcriptomes from 17 iNOA patients, which are classified into four classes with different arrest periods and variable cell proportions based on the gene expression patterns and pathological features. Genes related to the cell cycle, energy production, and gamete generation show obvious abnormalities in iNOA germ cells. This work identifies several candidate causal genes for iNOA, including CD164, LELP1, and TEX38, which are significantly downregulated in iNOA germ cells. Notably, CD164 knockdown promotes apoptosis in spermatogonia. Cellular communications between spermatogonial stem cells and Sertoli cells are disturbed in iNOA patients. Moreover, BOD1L2, C1orf194, and KRTCAP2 are found to indicate testicular spermatogenic capacity in a variety of testicular diseases, such as Y‐chromosome microdeletions and Klinefelter syndrome. In general, this study analyzes the pathogenesis of iNOA from the perspective of germ cell development, transcription factor (TF) regulatory networks, as well as germ cell and somatic cell interactions, which provides new ideas for clinical diagnosis. [ABSTRACT FROM AUTHOR]

Hyper-IgE syndrome (HIES) in adult patients is a very rare occurrence with heterogeneous clinical manifestations. Most of the previously described cases were from developed countries, capable of performing comprehensive testing to pinpoint the underlying genetic defect. Such a facility is often unavailable in resource-limited countries, creating a great diagnostic challenge. Nevertheless, several important clinical clues can significantly aid in hypothesis formulation, such as the presence of primary immunodeficiency, eosinophilia, and a history of atopy. We describe the process of diagnosing HIES on an 18-year-old Asian male through systematic symptom analysis and strategic use of a simple laboratory examination. [ABSTRACT FROM AUTHOR]

The implementation of next-generation sequencing (NGS) in clinical oncology has enabled the analysis of multiple cancer-associated genes for diagnostics and treatment purposes. The detection of pathogenic and likely pathogenic mutations is crucial to manage the disease. Obtaining the mutational profile may be challenging in samples with low yields of DNA—reflected by the type of biological material, such as formalin-fixed paraffin-embedded tissue (FFPE), needle biopsies, and circulating free/tumor DNA, as well as a sparse tumor content. Moreover, standardized strict procedures for the extraction of DNA in a clinical setting might contribute to lower amounts of DNA per µL. The detection of variants in low-yield DNA samples remains a challenge in clinical diagnostics, where molecular analyses such as NGS are needed. Here, we performed vacuum centrifugation on DNA extracted from five FFPE tissue blocks, with concentrations below 0.2 ng/µL. Through NGS analysis, we found that low-yield DNA samples could be concentrated to sufficient levels, without compromising the mutational profile. [ABSTRACT FROM AUTHOR]

Background: Dengue, Chikungunya, and Zika are co-endemic in Honduras and are often misdiagnosed due to similar clinical and epidemiological behavior. Most arboviral infections reported in primary care are based on clinical diagnoses without laboratory confirmation. Therefore, the accuracy of physicians' diagnoses and the factors that affect them needs to be evaluated. Methods: A cross-sectional study with convenience sampling at primary healthcare centers was conducted from June to September 2016 and 2017. Clinical data and dried blood spots on Whatman 903 filter paper from 415 arboviral cases and 248 non-arboviral febrile cases were collected. Viral RNA was extracted from a 6-mm DBS paper disc and confirmed by RT-qPCR and sequencing. Results: Only 30.84% of diagnostic accuracy was observed in physicians in primary care when comparing arboviral clinical diagnosis with RT-qPCR detection. Moreover, in Dengue and Zika clinical cases, only 8.23% and 27.08% were RT-qPCR confirmed, respectively. No Chikungunya cases were confirmed. In 2017, 20.96% of febrile cases were RT-qPCR confirmed arboviral infections. The symptoms of 45.5% of arboviral cases can fit more than one case definition for arboviruses. The "symptom compliance" and "patient with suspected close contact" were the criteria most utilized by physicians for arboviral diagnosis. The pattern of the epidemiological curves of the arboviral clinical cases didn't match the one of the RT-qPCR confirmed cases. Conclusions: Low diagnostic accuracy for overall and individual arboviral infections was observed in physicians. Unspecific symptomatology, overlapping case definitions, and reported close contact to an arboviral patient might contribute to misdiagnosis. Without laboratory confirmation, surveillance data may not reflect the real behavior of these diseases and could impact health interventions. [ABSTRACT FROM AUTHOR]

Objective To investigate the application value of serum amyloid β 1-42 (Aβ1-42) and phosphorylated tau-181 (P-tau-181) in the clinical diagnosis of cognitive dysfunction in cerebral small vessel disease (CSVD). Methods The patients with CSVD admitted to Nanjing Jiangbei Hospital from July 2019 to July 2020 were divided into the cognitive dysfunction group and normal cognitive function group. Aβ1-42 and P-tau-181 level in the serum of CSVD patients were detected by Enzyme linked immunosorbent assay (ELISA) method, and compared between the two groups. The sensitivity and specificity of the above indicators for the diagnosis of CSVD cognitive dysfunction were analyzed by receiver operating characteristic curve. Results Compared with the normal cognitive function group, the levels of Aβ1-42 and P-tau-181 of patients in the cognitive dysfunction group were significantly increased, the differences were statistically significant (P＜0. 05). The sensitivity and specificity of Aβ1-42 for the diagnosis of CSVD cognitive dysfunction were 75. 51%, 73. 47%, respectively. The sensitivity and specificity of P-tau-181 for diagnosing cognitive impairment in CSVD were 72. 09% and 65. 45%, respectively. Conclusion Serum Aβ1-42 and P-tau-181 are associated with cognitive dysfunction in CSVD, and have certain predictive value for the diagnose of cognitive dysfunction in CSVD. [ABSTRACT FROM AUTHOR]