Early Diagnosis Research Articles

Test and treat approach for tuberculosis infection amongst household contacts of drug-susceptible pulmonary tuberculosis, Mumbai, India

BackgroundMumbai is one of the most densely populated areas in the world and is a major contributor to the tuberculosis (TB) epidemic in India. A test and treat approach for TB infection (TBI) amongst household contacts (HHC) is part of the national policy for TB preventive treatment (TPT). However, in practice, the use of interferon-gamma release assay (IGRA) tests for infection are limited, and prevalence of TBI in Mumbai is not known.MethodsWe conducted a cross-sectional study among HHCs exposed to persons with microbiologically-confirmed, drug-susceptible pulmonary TB that were notified for antituberculosis treatment in Mumbai, India during September–December, 2021. Community-based field workers made home visits and offered IGRA (QuantiFERON-TB® Gold In-Tube Plus) tests to HHC aged 5 years and older. After ruling out active TB disease, HHC with IGRA-positive test results were referred for TPT. All HHC were monitored for at least 24 months for progression to active TB disease.ResultsAmong 502 HHCs tested, 273 (54%) had IGRA-positive results. A total of 254 (93%) were classified as TBI and were eligible for TPT, of which 215 (85%) initiated TPT, and 194 (90%) completed TPT successfully. There was substantial variation in rates of TBI per household. In 32% of households, all HHC (100%) were IGRA positive and in 64% of households >50% of HHC were infected. In all, 22 HHCs (4%; 22/558) were diagnosed with TB disease; of these, five HHC were diagnosed during follow up, of which three were IGRA positive and had no evidence of disease at initial screening but chose not to initiate TPT.ConclusionA test and treat strategy for HHC resulted in the detection of a substantial proportion of TBI and secondary TB cases. Home-based IGRA testing led to high participation rates, clinical evaluations, TPT initiation, and early diagnoses of additional secondary cases. A community-focused, test and treat approach was feasible in this population and could be considered for broader implementation.

Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy

BackgroundImerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of the cubam receptor, which mediates the reabsorption of cobalamin in the ileum and the reuptake of albumin in renal proximal tubules.Case presentationWe describe the case of a 23-month-old-italian infant presenting with severe pancytopenia and failure to thrive in whom the diagnosis of IGS was made and vitamin B12 replacement therapy was resolutive. Genetic analysis (NGS with CNV analysis including 214 genes involved in bone marrow failure and anemia), showed the presence of two pathogenetic variants in the AMN gene (c-208–2 A > G and c.1006 + 34_1007-31del). These variants have been previously described in the literature, but their combination has never been reported.ConclusionsImerslund-Gräsbeck syndrome should be considered in the differential diagnosis of children with severe pancytopenia even in those without neurological involvement. This case emphasizes the importance of an early diagnosis and prompt treatment, to prevent irreversible neurological injury.

Adult-Onset IgA Vasculitis Complicated by Kidney Failure at Disease Onset in a Nepalese Patient: A Case Report

Introduction: Immunoglobulin A (IgA) vasculitis, previously known as Henoch-Schönlein purpura, is an immune complex-mediated small vessel vasculitis primarily affecting children. While rare in adults, it can present with more severe manifestations, particularly involving the kidneys. This case report details the presentation and management of adult-onset IgA vasculitis with significant renal involvement.  Case Report: A 43-year-old male with a history of bipolar disorder presented with facial swelling, shortness of breath, and decreased urine output following an upper respiratory infection. Initial investigations revealed elevated blood pressure and renal impairment. Despite supportive treatment, his condition worsened, leading to a referral to a tertiary care center. He exhibited symptoms consistent with IgA vasculitis, including joint pain, rash, and nephrotic-range proteinuria. The diagnosis was confirmed through a skin biopsy and 24-hour urine collection. The patient was treated with intravenous methylprednisolone, oral prednisone, and an ACE inhibitor. His renal function improved with this regimen.  Discussion: Adult-onset IgA vasculitis can present with severe kidney involvement, including nephrotic-range proteinuria and elevated serum creatinine, which are associated with poorer outcomes compared to pediatric cases. The patient's management, involving glucocorticoids and an ACE inhibitor, aligns with current treatment recommendations for significant renal involvement. Long-term prognosis in adults remains challenging, with a higher risk of end-stage kidney disease compared to children. Vigilant monitoring and tailored treatment strategies are crucial for improving outcomes.  Conclusion: This case underscores the potential severity of adult- onset IgA vasculitis and highlights the importance of early diagnosis and aggressive management to mitigate long- term renal complications. Ongoing research is necessary to refine treatment approaches and enhance outcomes for adults with this condition.

Potential for trans-pulmonary tumor markers in the early diagnosis of lung cancer: a case report

BackgroundMeasurement of tumor markers from peripheral venous blood is an emerging tool to assist in the early diagnosis of lung cancer. Samples from the pulmonary artery and pulmonary artery wedge position (trans-pulmonary samples) are accessible via right-heart catheterization and, by virtue of their proximity to lung tumors, may increase diagnostic yield.Case presentationWe report a case of a 64 year-old woman from whom trans-pulmonary samples were obtained and who was diagnosed 16 months later with recurrent metastatic small cell lung cancer. Carcinoembryonic antigen, cytokeratin fragment 21 − 1 (CYFRA), and human epididymis protein 4 (HE4) levels demonstrated increasing concentrations across the pulmonary circulation. These gradients exceeded the assays’ coefficient of variation by several-fold. For CYFRA and HE4, pulmonary artery wedge concentrations exceeded peripheral venous levels by more than 10% and peripheral arterial levels were up to 8% higher than peripheral venous levels.ConclusionsEvaluating the feasibility and utility of trans-pulmonary tumor markers for lung cancer diagnosis in a larger cohort should be considered. The addition of a peripheral arterial sample to standard peripheral venous samples may be a more practical alternative.

Factors associated with cervical cancer screening among women of reproductive age in Ghana

BackgroundCervical cancer remains a leading cause of cancer-related deaths among women in Ghana and other Sub-Sahara African (SSA) countries. Despite the importance of early diagnosis for timely treatment and death prevention, cervical cancer screening among women in developing countries remain very low. Nonetheless, there is a paucity of research examining the factors associated with screening uptake among women of reproductive age in Ghana. Thus, this study fills the scholarly void and contributes to the existing literature by examining the determinants of cervical cancer screening in Ghana.MethodsUtilizing data from the 2022 Ghana Demographic and Health Survey (GDHS) (N = 15,014 women), and by employing logistic regression models for a cross-sectional analysis, this study evaluated the factors associated with cervical cancer screening in Ghana.ResultsWomen with tertiary educational attainment (OR = 4.140; 95%CI: 2.960 5.789; p < 0.001), from the richer (OR = 1.968; p < 0.001) and richest households (OR = 2.492; p < 0.001), the married/living with partner (OR = 1.773; 95%CI:1.372 2.290; p < 0.001), the widowed/divorced/separated (OR = 1.888; 95%CI:1.320 2.701; p < 0.001), owners of valid health insurance card (OR = 1.356; 95%CI:1.086 1.693; p < 0.01), visitation to health facility in the past 12 months (OR = 1.312; 95%CI: 1.082 1.590; p < 0.001), those who watched television at least once in a week (OR = 1.395; 95%CI: 1.055 1.846; p < 0.001), as well as those who listened to radio at least once in a week (OR = 1.509; 95%CI: 1.228 1.853; p < 0.001), were all significantly more associated with cervical cancer screening in the study context. Also, ethnicity, religion, and the region of residence significantly predicted cervical cancer screening in the study context.ConclusionCervical cancer screening in Ghana can be improved by addressing socioeconomic and geographical disparities in the country’s healthcare system. To ensure early detection, timely treatment or care and prevention of cervical cancer-related deaths in the country, there must be coordinated efforts by the government of Ghana to improve healthcare access and surveillance systems for cervical cancer cases, particularly, in geographically disadvantage areas.

Ultrasensitive Detection of Dimethylamine Gas for Early Diagnosis of Parkinson's Disease Using CeO2-Coated Ti3C2Tx MXene/Carbon Nanofibers.

Parkinson's disease is a prevalent neurological disorder, with dimethylamine (DMA) recognized as a crucial breath biomarker, particularly at the parts per billion (ppb) level. Detecting DMA gas at this level, especially at room temperature and high humidity, remains a formidable challenge. This study presents an ultrasensitive chemiresistor DMA gas sensor, leveraging the CeO2-coated Ti3C2Tx MXene/carbon nanofiber (CeO2/MXene/C NFs) heterostructure to enhance dimethylamine sensing. The high conductivity of MXene, combined with C-Ti-O bonds and a sp2 hybridized hexagonal carbon structure, increases surface active sites. The presence of Ce3+ promotes the formation of surface-active oxygen species, while the MXene-CeO2 heterojunction broadens the electron depletion layer. Theoretical calculations reveal that the highest adsorption energy for DMA gas is at the Ce top site, explaining the sensor's satisfactory sensitivity, rapid response and recovery process, low detection limit (5 ppb), and high selectivity at room temperature. The Ce3+/Ce4+ dynamic self-refresh mechanism, involving surface hydroxyl elimination, enhances the sensor's performance under high-humid conditions. Clinical breath tests demonstrate the sensor's ability to distinguish between healthy individuals and Parkinson's disease patients, paving the way for developing next-generation sensors for early diagnosis of neurological disorders.

Post-traumatic stress disorder among military personnel admitted at the Northwest Command Level Three Military Hospital, Bahir Dar, Ethiopia, 2022: an institution-based cross-sectional study

BackgroundPost-traumatic stress disorder (PTSD) is one of the most common mental health problems that military personnel encounter. It could be lifelong and affect every aspect of military personnel, including their mental and physical health, family and social interactions, and their work. However, in Ethiopia, the magnitude and its associated factors have not been well investigated.ObjectiveThis study aimed to determine the prevalence of PTSD and its associated factors among military personnel, who were admitted at the Northwest Command Level Three Military Hospital, Bahir Dar, Northwest, Ethiopia, 2022.MethodsAn institution-based cross-sectional study was conducted from 21 June to 21 July 2022, at the Northwest Command Level Three Military Hospital. A computer-generated simple random sampling technique was used to select a total of 627 participants. The 17-item Military Version Checklist was utilized to measure PTSD. The Patient Health Questionnaire, Brief Resilience Coping, and Critical War Zone Experience scale were utilized to measure depression, resilience, and combat exposure, respectively. Descriptive, bivariate, and multivariate binary logistic regressions with odds ratios and a 95% confidence interval were used. The level of significance of the association was determined at a p-value &amp;lt; 0.05.ResultsA total of 612 respondents participated, with a response rate of 97.6%. The prevalence of PTSD in this study was 21.9% (95% CI: 18.6, 25.2). In multivariable regression, female sex [adjusted odds ratio (AOR) = 2.3, 95% CI; 1.3, 3.87], combat personnel (AOR = 2.75, 95% CI; 1.44, 6.36), handling dead bodies (AOR = 2.5, 95% CI,1.24, 5.02), having 4–5 deployments (AOR = 2.94, 95% CI, 1.63, 5.32), having ≥6 deployments (AOR = 3.4, 95% CI, 1.95, 6.17), low resilience coping (AOR = 2.02, 95% CI; 1.16, 3.53), poor social support (AOR = 2.46, 95% CI, 1.39, 4.35), very high combat exposures (AOR = 4.8, 95% CI, 2.03, 11.93), and depression (AOR = 2.8, 95% CI, 1.68, 4.67) were significantly associated with PTSD.ConclusionPTSD is markedly prevalent among the Ethiopian military population, with key risk factors identified as being female, poor social support, low resilience coping skills, handling dead bodies, multiple deployments (four or more), high combat experiences, and depression. Healthcare professionals must prioritize the early diagnosis and intervention of PTSD in vulnerable groups of military personnel.

Development of an AI-Based Predictive Algorithm for Early Diagnosis of High-Risk Dementia Groups among the Elderly: Utilizing Health Lifelog Data

Background/Objectives: This study aimed to develop a predictive algorithm for the early diagnosis of dementia in the high-risk group of older adults using artificial intelligence technologies. The objective is to create an accessible diagnostic method that does not rely on traditional medical equipment, thereby improving the early detection and management of dementia. Methods: Lifelog data from wearable devices targeting this high-risk group were collected from the AI Hub platform. Various indicators from these data were analyzed to develop a dementia diagnostic model. Machine learning techniques such as Logistic Regression, Random Forest, LightGBM, and Support Vector Machine were employed. Data augmentation techniques were applied to address data imbalance, thereby enhancing the model performance. Results: Data augmentation significantly improved the model’s accuracy in classifying dementia cases. Specifically, in gait data, the SVM model performed with an accuracy of 0.879. In sleep data, a Logistic Regression was performed, yielding an accuracy of 0.818. This indicates that the lifelog data can effectively contribute to the early diagnosis of dementia, providing a practical solution that can be easily integrated into healthcare systems. Conclusions: This study demonstrates that lifelog data, which are easily collected in daily life, can significantly enhance the accessibility and efficiency of dementia diagnosis, aiding in the effective use of medical resources and potentially delaying disease progression.

Renal Manifestations of Chronic Hepatitis C: A Review

Hepatitis C virus (HCV) has emerged as a major global health concern and, if left untreated, can lead to significant liver damage, including cirrhosis, decompensated liver disease, and hepatocellular carcinoma (HCC). Approximately 40% of patients with HCV infection experience extrahepatic manifestations, including renal involvement. HCV-related renal disease is of significant importance among patients with chronic kidney disease (CKD), leading to higher morbidity and mortality. The renal damage due to HCV infection primarily results from cryoglobulinemia and glomerulonephritis, with conditions such as membranoproliferative glomerulonephritis (MPGN) and membranous nephropathy (MN) being most prevalent. Despite advancements in treatment, including the use of directly acting antiviral agents (DAAs), renal complications remain a significant burden in untreated patients. HCV-positive patients on hemodialysis (HD) or those who have undergone kidney transplantation face increased mortality rates compared to their HCV-negative counterparts. Managing HCV infection before kidney transplantation is crucial to mitigate the risk of HCV-related renal complications. Conversely, kidney transplantation from HCV-infected donors is well established, as post-transplant treatment for HCV is safe and effective, potentially reducing mortality and morbidity for patients on transplant waiting lists. This review aims to provide a comprehensive analysis of the renal manifestations of HCV, emphasizing the importance of early diagnosis and treatment to improve patient outcomes.

Low back pain characteristics in adolescent patients with early-stage spondylolysis: a prospective study.

Early-stage spondylolysis (ESS) is a common cause of acute low back pain (LBP) in adolescents. When treating patients with ESS, early diagnosis is essential, yet difficult without magnetic resonance imaging. This study evaluates a self-reported questionnaire for detecting ESS. We evaluated a total of 69 adolescents (≤ 18years old) with acute LBP (≤ 1month) with plain radiography, magnetic resonance imaging and a questionnaire including the following parameters: exercise frequency per week, daily training time, the necessity for stopping sports activity, pain-producing situations, pain quality, pain response to hyperextension or hyperflexion, pain location, and pain extent. Patients with obvious pathological findings other than ESS (e.g., disk herniation or infection) were excluded. The correlation of each question and gender, regarding ESS was determined, to evaluate the value of the originally developed questionnaire. 24 out of 69 patients were diagnosed with ESS (ESS group), with a mean age of 13.9years old and 21 males and 3 females in the group. 45 patients had NS-LBP, with a mean age of 14.6years old, and 28 males and 17 females in the group. Correlation analyses showed weak associations between ESS and higher frequency of exercise per week, longer training time per day, and pain-producing situations. There was also a moderate association between ESS and male gender. Exercise frequency, training time, pain-provoking situations, and gender could be important factors to detect ESS within this questionnaire.

A Study on Machine Learning-Based Feature Classification for the Early Diagnosis of Blade Rubbing

This research focuses on the development of a machine learning-based approach for the early diagnosis of blade rubbing in rotary machinery. In this paper, machine learning-based diagnostic methods are used for blade rubbing early diagnosis, and the faults are simulated using experimental models. The experimental conditions were simulated as follows: Excessive rotor vibration is generated by an unbalance mass, and blade rubbing occurs through excessive rotor vibration. Additionally, the severity of blade rubbing was also simulated while increasing the unbalance mass. And then, machine learning-based diagnostic methods were applied and the trends according to the severity of blade rubbing were compared. This paper provides a signal processing method through feature analysis to diagnose blade rubbing conditions in machine learning. It was confirmed that the results of the unbalance and blade rubbing represent different trends, and it is possible to distinguish unbalance from blade rubbing before blade rubbing occurs. The diagnosis using machine learning methods will be applicable to rotating machinery faults like blade rubbing; furthermore, the early diagnosis of blade rubbing will be possible.

Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review.

Congenital anomalies of the kidney and urinary tract (CAKUT) and congenital heart disease (CHD) are the most common congenital defects and constitute a major cause of morbidity in children. Anomalies of both systems may be isolated or associated with congenital anomalies of other organ systems. Various reports support the co-occurrence of CAKUT and CHD, although the prevalence can vary. Cardiovascular anomalies occur in 11.2% to 34% of patients with CAKUT, and CAKUT occur in 5.3% to 35.8% of those with CHD. The co-occurrence of genetic factors in both CAKUT and CHD would raise common etiologies including genetics, genetic-environmental interactions, or shared molecular mechanisms and pathways such as NODAL, NOTCH, BMP, WNT, and VEGF. Studies in animal models and humans have indicated a genetic etiology for CHD and CAKUT with hundreds of genes recognized and thousands of entries, found in a catalog of human genetic disorders. There are over 80 CAKUT genes and over 100 CHD genes available for clinical testing. For example, the HNFIB gene accounts for 5% to 31% of reported cases of CAKUT. In view of the association between CAKUT and CHD, a thorough cardiac examination should be performed in patients with CAKUT, and a similar evaluation for CAKUT in the presence of CHD. This will allow early diagnosis and therapeutic intervention to improve the long- term outcome of patients affected, and test for at-risk family members. We present here evidence for an association of anomalies involving the two organ systems, and discuss possible etiologies of targeted genes, their functions, biological processes and interactions on embryogenesis.

Comprehensive analysis of clinicopathological characteristics in oral squamous cell carcinoma arising from oral submucous fibrosis: a retrospective study

BackgroundOral squamous cell carcinoma arising from oral submucous fibrosis is recognized as a clinicopathologically distinct disease. This study aims to summarize and compare the population and clinicopathologic characteristics of OSCC-OSF with other OSCC in Hunan Province, China. The objective is to formulate treatment strategies more in line with regional characteristics.MethodsA retrospective review of OSCC cases recruited from the Second Xiangya Hospital from 2010 to 2020 was conducted. A total of 1,413 OSCC patients were selected, including 481 patients with OSCC-OSF and 932 were other OSCC. Population characteristics, risk factors and clinicopathological manifestations were explored in OSCC-OSF and other OSCC, as well as thinprep cytologic test and DNA quantification.ResultsWe found that OSCC-OSF patients were younger than those with other OSCC. Both types of disease were predominantly observed in males compared to females. Tumor biopsy analysis indicated that tumor cells within OSCC-OSF patients were more likely to be well differentiated and showed a higher frequency of lymph node metastases. Clinicopathological factors, such as the chewing betel nuts habit and smoking, were more prevalent in OSCC-OSF patients in contrast to other OSCC. DNA quantification revealed that the number of DNA aneuploid cells was higher in OSCC-OSF compared to other OSCCs.ConclusionIn this study, OSCC-OSF is considered a clinicopathologically distinct disease. Compared with other OSCC, OSCC-OSF patients have a higher incidence of nodal metastases, an early clinical TNM stage, and a lower three-year survival rate. Therefore, early diagnosis and treatment are crucial to improving the prognosis of OSCC-OSF.

Reproducible, Accurate, and Sensitive Food Toxin On-Site Detection with Carbon Nanotube Transistor Biosensors.

Field-effect transistor (FET) biosensors based on nanomaterials are promising in the areas of food safety and early disease diagnosis due to their ultrahigh sensitivity and rapid response. However, most academically developed FET biosensors lack real-world reproducibility and comprehensive methodological validation to meet the standards of regulatory bodies. Here, highly uniform and well-packaged semiconducting carbon nanotube (CNT) FET biosensor chips were developed and assessed for the plug-and-play sensing for the rapid and highly sensitive detection of aflatoxin B1 (AFB1) in real food samples to meet international standards. In order to meet the requirements for reproducibility and stability, a scalable residual-free passivation and packaging process was developed for CNT FET biosensors. Portable detection systems were then constructed for on-site detection. The resulting packaged chips were functionalized with nucleic aptamers to enable highly selective detection of AFB1 in food samples with a detection limit (LOD) of 0.55 fg/mL (standard) for AFB1 and cross-reactivity coefficients to interferences as low as 1.8 × 10-7 in simulated solutions. Utilizing the portable detection system, on-site real food detection was achieved with a rapid response time less than 60 s, and LOD of 0.25 pg/kg (standard) in complex corn sample matrices. Single-blind tests demonstrated the ability of the chips to detect AFB1-positive food with 100% accuracy, using a set of 30 peanut samples. Validation experiments confirmed that the detection range, stability, and repeatability met international standards. This study showcased the accuracy, reliability, and potential practical applications of CNT FET biosensor chips in areas such as food safety and rapid biomedical testing.

Intratumoral and fecal microbiota reveals microbial markers associated with gastric carcinogenesis

BackgroundThe relationship between dysbiosis of the gastrointestinal microbiota and gastric cancer (GC) has been extensively studied. However, microbiota alterations in GC patients vary widely across studies, and reproducible diagnostic biomarkers for early GC are still lacking in multiple populations. Thus, this study aimed to characterize the gastrointestinal microbial communities involved in gastric carcinogenesis through a meta-analysis of multiple published and open datasets.MethodsWe analyzed 16S rRNA sequencing data from 1,642 gastric biopsy samples and 394 stool samples across 11 independent studies. VSEARCH, QIIME and R packages such as vegan, phyloseq, cooccur, and random forest were used for data processing and analysis. PICRUSt software was employed to predict functions.ResultsThe α-diversity results indicated significant differences in the intratumoral microbiota of cancer patients compared to non-cancer patients, while no significant differences were observed in the fecal microbiota. Network analysis showed that the positive correlation with GC-enriched bacteria increased, and the positive correlation with GC-depleted bacteria decreased compared to healthy individuals. Functional analyses indicated that pathways related to carbohydrate metabolism were significantly enriched in GC, while biosynthesis of unsaturated fatty acids was diminished. Additionally, we investigated non-Helicobacter pylori (HP) commensals, which are crucial in both HP-negative and HP-positive GC. Random forest models, constructed using specific taxa associated with GC identified from the LEfSe analysis, revealed that the combination of Lactobacillus and Streptococcus included alone could effectively discriminate between GC patients and healthy individuals in fecal samples (area under the curve (AUC) = 0.7949). This finding was also validated in an independent cohort (AUC = 0.7712).ConclusionsThis study examined the intratumoral and fecal microbiota of GC patients from a dual microecological perspective and identified Lactobacillus, Streptococcus, Roseburia, Faecalibacterium and Phascolarctobacterium as intratumoral and intestinal-specific co-differential bacteria. Furthermore, it confirmed the validity of the combination of Lactobacillus and Streptococcus as GC-specific microbial markers across multiple populations, which may aid in the early non-invasive diagnosis of GC.

Recurrent Dermatofibrosarcoma Protuberans with Fibrosarcomatous Transformation: A Case Report

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma with a propensity for local recurrence but a low risk of distant metastasis. Fibrosarcomatous transformation (FS-DFSP) is a rare but aggressive variant associated with increased metastatic potential. Case presentation: We present the case of a 39-year-old male with recurrent DFSP involving the scalp, mandible, and humerus, complicated by fibrosarcomatous transformation and distant metastases to the lungs and bones. The patient underwent multiple excisions, radiation therapy, and systemic treatments including chemotherapy and imatinib, but ultimately experienced disease progression. Conclusion: This case highlights the challenges in managing recurrent DFSP with fibrosarcomatous transformation. The rarity of this entity necessitates a high index of suspicion for early diagnosis and aggressive multidisciplinary management to improve patient outcomes. Further research is needed to identify effective treatment strategies for this aggressive variant of DFSP.

Cornual Ectopic Pregnancy Rupture Early Diagnosis and Treatment: A Case Report

Cornual pregnancy is a severe form of ectopic pregnancy, comprising 2-4% of such cases and presenting a mortality rate 6-7 times higher than typical ectopic pregnancies. It is often confused with interstitial pregnancy which arises from the implantation of the gestational sac in the myometrium’s proximal part. Diagnosis and treatment are challenging and considered medical emergencies due to potential for significant maternal haemorrhage. This is a case report of a 26-year-old woman in hypovolemic shock due to a ruptured ectopic pregnancy, confirmed via ultrasound and treated with emergency laparotomy, revealing a left corneal ectopic pregnancy, which was successfully repaired.

Metabolomic Profiling of Pulmonary Neuroendocrine Neoplasms

Background/Objectives: Pulmonary neuroendocrine neoplasms (NENs) account for 20% of malignant lung tumors. Their management is challenging due to their diverse clinical features and aggressive nature. Currently, metabolomics offers a range of potential cancer biomarkers for diagnosis, monitoring tumor progression, and assessing therapeutic response. However, a specific metabolomic profile for early diagnosis of lung NENs has yet to be identified. This study aims to identify specific metabolomic profiles that can serve as biomarkers for early diagnosis of lung NENs. Methods: We measured 153 metabolites using liquid chromatography combined with mass spectrometry (LC-MS) in the plasma of 120 NEN patients and compared them with those of 71 healthy individuals. Additionally, we compared these profiles with those of 466 patients with non-small-cell lung cancers (NSCLCs) to ensure clinical relevance. Results: We identified 21 metabolites with consistently altered plasma concentrations in NENs. Compared to healthy controls, 18 metabolites were specific to carcinoid tumors, 5 to small-cell lung carcinomas (SCLCs), and 10 to large-cell neuroendocrine carcinomas (LCNECs). These findings revealed alterations in various metabolic pathways, such as fatty acid biosynthesis and beta-oxidation, the Warburg effect, and the citric acid cycle. Conclusions: Our study identified biomarker metabolites in the plasma of patients with each subtype of lung NENs and demonstrated significant alterations in several metabolic pathways. These metabolomic profiles could potentially serve as biomarkers for early diagnosis and better management of lung NENs.

Sjögren disease, new name, new guidelines: Key messages for primary care

Sjögren’s syndrome is increasingly renamed Sjögren disease, as in the recent British Society of Rheumatology guidelines. These guidelines provide evidence-based recommendations for the management of adult and juvenile onset Sjögren disease. Sjögren disease is the second most common autoimmune rheumatic disease (after rheumatoid arthritis), affecting approximately 0.6% of adults, over 90% of whom are women. Sjögren disease can occur as a stand-alone autoimmune disease or overlap with other conditions such as rheumatoid arthritis, systemic lupus erythematosus or systemic sclerosis. This article aims to highlight the salient features of the guidelines for primary care physicians to improve the early diagnosis of Sjögren disease and inform the day-to-day management of established cases. The two clinical case scenarios featured in this article should help to highlight the importance of early diagnostic pick up whilst minimising false positive diagnosis and to highlight key messages from the new guidelines. A summary sheet of these guidelines is included in the supplementary material.

Performance of ParaHIT® HRP2-Based Rapid Diagnostic Test and Proportions of Plasmodium falciparum Histidine-Rich Protein 2/3 Gene Deletions in Togo.

In areas where malaria is endemic and microscopes are unavailable, rapid diagnostic tests (RDTs) are essential tools for early diagnosis and prompt and effective treatment. However, HRP2-based RDTs are threatened by the emergence of Plasmodium falciparum parasites that do not carry the pfhrp2 or pfhrp3 gene, leading to false-negative results. Therefore, the aim of this study was to evaluate the performance of the ParaHIT RDT together with the proportion of pfhrp2/3 gene-deleted P. falciparum parasites in Togo. The performance of RDTs compared with microscopy and polymerase chain reaction (PCR) was determined using capillary blood collected by finger prick during a cross-sectional study conducted from September 2021 to January 2022 in children aged 6-59 months at two sentinel sites. Blood spots were collected for molecular analysis. Amplicons from the target regions (exon 2 of hrp2 and hrp3 genes) were generated by multiplex nested PCR and sequenced using Illumina's MiSeq protocol. A total of 278 samples were analyzed for ParaHIT RDT evaluation. The sensitivity and specificity of the RDT test compared with microscopy were 96.4% and 85.7%, respectively, which increased to 97.9% and 90.7%, respectively, when compared with PCR. Of the microscopically and PCR-positive P. falciparum samples, 138 were sequenced to detect pfhrp2/3 deletions. None of the parasites had a single pfhrp2 deletion or a single pfhrp3 deletion. The ParaHIT RDT demonstrated an acceptable level of performance in this evaluation, confirming the use of HRP2-based RDTs for the detection of P. falciparum infection in areas where microscopy is not available in Togo.