Diagnostic Laboratory Tests Research Articles

Emerging and re-emerging viral exanthems among children: what a physician should know.

Viral exanthems can present with diverse morphologies of rash, including macular, maculopapular, papular, urticarial and vesicular, or sometimes a combination of these. There has been an increasing trend towards emerging and re-emerging viral exanthems in recent years, the cause of which is multifactorial, including changing environmental conditions and altered host-vector-agent interaction. The significant temperature variations brought on by climate change and ever-increasing international travel has modified the host-agent interactions, and many re-emerging viral illnesses are now presenting with atypical presentations, including an increased frequency of affliction across broader age groups and heightened manifestations often posing as 'great imitators' mimicking a myriad of other dermatoses. Although final diagnosis often relies on serological and molecular tests, certain cutaneous clues can help arrive at a probable clinical diagnosis and help the clinicians order specific and relevant investigations, especially in resource-poor settings where access to laboratory diagnostic tests is likely to be limited. In this review we explore the changing disease dynamics of common viral infections, especially in resource-poor settings, including coronavirus disease 2019, chikungunya, hand-foot-and-mouth disease and some newly emerging ones like mpox (previously referred to as monkeypox), and highlight recent developments in our understanding of the clinical variations seen in their presentations.

Etiology, Diagnosis And Therapy Of Burning Mouth Syndrome In Denture Wearers - Review

Background: The Burning Month Syndrome (BMS) is an oral mucosa pain - with or without inflammatory signs - without any specific lesion. Burning mouth syndrome (BMS) is multifactorial in origin which is typically characterized by burning and painful sensation in an oral cavity. The cause of BMS is not known, therefore a complex association of biological, psychological and neurophatic factors has been identified. BMS is classified as an idiopathic (nociplastic) orofacial pain with or without somatosensory changes by International Classification of Orofacial Pain (ICOP 2020). The aim of this study was to understand the etiological factors (local, systemic, and psychosocial) which may be responsible for oral burning associated with BMS, and to offer the prosthodontic practitioners possibilities for treatment generally at all patients, especially at denture wearers in solving this problem. Matherials and methods: Review of literature was used to analyze the etiological factors for BMS, pain characteristics, diagnostic criteria and treatment possibilities for BMS condition at patients with dentures. Results: BMS can be divided into three types depending on the intensity of pain. There are also few possible theories behind the cause of BMS. Local oral factors are: denture acrylic allergies, poorly fitting dentures, para functional activities, salivary gland dysfunction, taste dysfunction, infectious agents, periodontal diseases, peripheral nerve damage. Systemic factors are: nutritional deficiency/anemia, central nervous system disorders, psychological disorders, hormonal changes and diabetes mellitus, xerostomia and Sjogren's syndrome. Discussion: Problems with dentures are important factors in the burning symptoms. Inadequate denture retention and stability can induce abnormal tongue activity and become a habit to retain the denture extensions and in adequate freeway space increase load on the denture bearing areas which results of burning mouth sensation. It is clinically helpful if patients find that removal of the denture reliefs their symptoms. Although the short‐term follow‐up studies may show potential symptomatic improvement with treatment in patients with BMS, the long‐ term outcomes for BMS remain unclear. In perspective, complete understanding of the etiology and pathogenesis is imperative to the development of novel and efficacious therapeutic strategies and will guide overall prognosis of the disease in the future. Conclusion: Although different etiological theories have been proposed to explain primary burning mouth syndrome, none have received universal acceptance to date. BMS is a difficult and challenging problem for the dental practitioner. It is a clinical diagnosis made via the exclusion of all other causes. No universally accepted diagnostic criteria, laboratory tests, imaging studies or other modalities definitively diagnose or exclude BMS. The key to successful management is a good diagnostic work-up and coordination between the prosthodontic practitioners and appropriate physicians and psychologists. All this together will help prosthodontics practitioners to better diagnose and treat the BMS.

The Limping Child: A Guide for the Trainees.

Limping is a common presenting complaint in children. Despite this, it remains to be a diagnostic challenge for treating physicians due to an expanded list of etiologies. It arises from a spectrum of disorders, ranging from physiological variations of gait at different stages of development to systemic causes, such as inflammatory diseases or musculoskeletal infections. On rare occasions, non-musculoskeletal causes could result in limping. The diagnostic challenge increases in younger age children where a detailed physical examination that helps identify the exact source of pathology may not be possible. In older patients who have a well-developed gait cycle, the physical assessment might be easier. Clinical assessment in a child presenting with a limp includes gait analysis, which is essential to guide the appropriate request of diagnostic laboratory tests and imaging studies. In this paper, we provide a practical guide for a trainee in General Pediatric and Pediatric Rheumatology on an approach to a limping child, aiming to identify the common causes of limping and to describe normal and abnormal gait cycles. We also discuss other diagnostic considerations in the assessment of these children.

Concordance Between Platelet Expression Assay (PEA) and Serotonin Release Assay (SRA) in Heparin-Induced Thrombocytopenia: Implications for Diagnostic Accuracy and Laboratory Test Utilization

Abstract Introduction The Serotonin Release Assay (SRA) serves as the gold standard functional assay for heparin-induced thrombocytopenia (HIT) diagnosis at our institution. The present turnaround time (TAT) for SRA results ranges from 4-5 days, occasionally extending beyond 8 days, given outsourcing to a reference laboratory. Recently, an alternative functional assay, the Platelet Expression Assay (PEA), has been introduced. The PEA detects platelet activation through p-selectin expression by flow cytometry, with a reported sensitivity of 100% and specificity of 95% for HIT. The PEA is also a send-out test, and thus has similar TAT and cost profiles as the SRA, but with potential to transition into an in-house assay in the future. Herein, we sought to determine the concordance of the PEA and SRA for the detection and diagnosis of HIT within our patient population. Methods A retrospective review was conducted on all cases in which a HIT ELISA (screening immunoassay) was performed by the Special Coagulation Laboratory during a one-year period. A 4Ts score was calculated if not already documented by chart review. In a subset analysis, specimens with a positive screening ELISA were concurrently tested by both SRA and PEA to compare performance. Results Of the 1341 cases, a 4Ts score was calculated and found to be less than 4 for 30-50% of cases. A total of 490 cases were sent out for SRA, of which 49 (10%) returned positive results. In a subset analysis of 20 samples from 14 patients, all with positive ELISAs, results revealed concordance between the SRA and PEA for all but one sample (19/20, 95%). Specifically, three successive samples from one patient had [negative, negative, positive] results for SRA, and [negative, positive, positive] results for PEA, respectively. This discordant result suggests a potential difference in sensitivity between the two assays. Further subset analysis focused on an additional 13 samples from 10 patients, all with SRA-positive results. Only 8 samples were concordant (8/13, 62%). One case showed a negative PEA and presumed false positive SRA, given the clinical history, while 4 samples showed likely true positive SRA results, given strength of ELISA results and 4Ts score, but were negative by PEA. Conclusions The lack of adherence to the 4Ts score algorithm to drive laboratory test utilization resulted in unnecessary ELISA and functional assay testing, potentially resulting in increased costs and false positive results. This result underscores the need for vigilance in assessing and refining diagnostic strategies. Additionally, our discordant findings in the subset analysis underscore the importance of evaluating the concordance and discordance between SRA and PEA results, providing insights into the diagnostic accuracy and potential limitations of each assay in identifying HIT.

B-110 Descriptive Analysis of Multiple Myeloma Participants in the NIH All of Us Research Program Cohort: Insights into Demographics Disparities

Abstract Background Multiple Myeloma (MM) is a complex hematological malignancy characterized by significant heterogeneity in participant characteristics and treatment responses. The All of Us Research Program seeks to enroll 1 million diverse participants who share multiple sources of data, providing unique opportunities for research. A comprehensive descriptive analysis of MM participants within Electronic Health Records (EHR) databases can provide valuable insights into the disease's epidemiology, participant demographics, comorbidities, and treatment outcomes. Objective Using AI/ML predictive analytics, this study conducted a detailed descriptive analysis of MM participants’ EHR data in the All of Us Research Program cohort, which is enrolling 1 million diverse participants who share multiple sources of data. Methods We extracted data for participants diagnosed with MM from an extensive EHR database. The analysis included participant demographics (age, gender, race, ethnicity), diagnostic laboratory tests (SPEP, UPEP, CBC, renal function), comorbidities (renal impairment, bone disease, anemia, cardiovascular diseases), treatment details (chemotherapy, stem cell transplantation), and genetic markers (cytogenetic abnormalities). Results The analysis revealed diverse demographic patterns and a wide range of comorbidities associated with MM (Table 1). Conclusions The analysis demonstrated marked disparities in MM prevalence among African Americans and “More than one race,” revealing social and medical disparities. Implications: By understanding the diverse profiles of MM participants, stakeholders can more effectively address disparities in healthcare outcomes (1). Reference: 1. Zeng, C., Schlueter, D. J., Tran, T. C., Babbar, A., Cassini, T., Bastarache, L. A., & Denny, J. C. (2024). Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank. Journal of the American Medical Informatics Association. Retrieved from, https://doi.org/10.1093/jamia/ocad260

Outpatient Infant Botulism in the United States, 1976-2021

To characterize cases of outpatients with infant botulism (IB) in the United States (US) identified by the Infant Botulism Treatment and Prevention Program (IBTPP) at the California Department of Public Health (CDPH) from 1976 through 2021. Outpatient IB cases were defined as patients presenting with an illness consistent with the known paralyzing action of botulinum neurotoxin (BoNT) and with laboratory confirmation. Outpatient cases were distinguished from the majority of patients with IB by the atypical fact that they did not require hospitalization throughout the course of their illness. Of the 4372 cases of IB identified by the IBTPP over a 45-year period (1976-2021), 17 (0.4%) were outpatient cases. Most (11/17; 65%) cases occurred in California. The median age at disease onset was 20 weeks (range = 6 to 55 weeks). The most common symptom among cases was constipation (16/17; 94%). Most patients (16/17; 94%) had at least one cranial nerve palsy, manifested as decreased head control, ptosis, weak cry, or poor suck. Outpatient IB occurs nationwide, although clinical diagnosis may be difficult because the severity of symptoms do not necessitate hospitalization or more comprehensive clinical intervention. Identification of outpatient cases requires an astute clinician and a capable, willing diagnostic testing laboratory. It is likely that more outpatient cases of IB are occurring than are presently recognized in infants mildly affected by this disease. Healthcare providers should consider the possibility of IB when presented with a previously well infant with failure to thrive, poor feeding, constipation, mild hypotonia, or cranial nerve palsy.

A rare case of tetanus with early manifestation of apnea but without trismus

BackgroundTetanus is a life-threatening disease caused by tetanus neurotoxin (TeNT) produced by Clostridium tetani. Early symptoms of tetanus are trismus and muscle stiffness, both caused by spasticity. TeNT mainly exerts its effect by impairment of inhibitory neurons in the spine and brainstem, resulting in the hyperactivity of motor neurons, which causes spasticity and muscle spasms. Apnea is not a symptom that is predicted to occur in the early stages. Case ReportWe present a rare case of severe tetanus with an early manifestation of apnea but without trismus. We believe that apnea was caused by spasms of the intercostal muscles and its early manifestation was due to a high load of TeNT, considering that the speed of disease progression is related to disease severity. We hypothesize that the absence of trismus was also due to a high load of TeNT, exerting toxic effect at the neuromuscular junction and causing flaccid paralysis of the massetersWhy Should an Emergency Physician Be Aware of This?:Since there is no diagnostic laboratory test for tetanus, emergency physicians must be well aware of symptoms that may or may not appear in tetanus. Tetanus should be considered as a differential diagnosis for patients arriving at the emergency department with apnea as an early symptom. The absence of trismus should not rule out the possibility of tetanus.

Congenital cytomegalovirus diagnosis: healthcare claims data of linked pregnant people-infant pairs, United States, 2018—2023

Objective To describe maternal demographics and compare clinical characteristics of infants with congenital cytomegalovirus (cCMV) identified through diagnostic codes and laboratory data in the United States during 2018–2023. Methods We used a CDC-licensed subset of HealthVerity data, which contained linked pregnant people-infant claims data from publicly and privately insured individuals during 2018–2023 (2023 Quarter 3 HealthVerity Maternal Outcomes Masterset data). We identified infants with cCMV using diagnostic codes or positive laboratory test results within 45 days of birth. Results Among 744 (4.6 per 10,000 live births) infants with cCMV during 2018–2023, 599 (81%) were identified by a diagnostic code only. Among 732 linked pregnant people, 91 (12%) had a diagnosis of CMV infection during pregnancy, with a similar distribution by age group and insurance type, but a lower proportion were Black as compared to those without CMV infection during pregnancy (14% vs. 29%, respectively). Overall, 452 (61%) infants had ≥1 cCMV-related clinical sign at birth and 185 (25%) had valganciclovir prescriptions. Eighty-eight (68%) infants identified by a positive laboratory test only had no cCMV-related signs and none had valganciclovir prescriptions. Conclusions Using healthcare claims data, we found a minimal overlap of cCMV identified by diagnostic codes and laboratory test results. A minority of linked pregnant people with infants with cCMV had a CMV diagnosis during pregnancy. cCMV surveillance will help better understand the validity of ICD codes to identify infants with cCMV, describe the spectrum of disease, and monitor the use of antivirals.

1H-NMR Analysis of Amino Acid Metabolism in Cerebrospinal Fluid of Dogs with Neurological Distemper

Abstract Canine Distemper Virus (CDV) infection causes a multifocal demyelinating progressive disease within the central nervous system (CNS) that results in wide range of neurological symptoms. Pathological changes in the brain or CNS could be observed by analyzing cerebrospinal fluid (CSF). Therefore, this study aimed to investigate the concentrations of amino acids in the CSF of dogs with neurological form of CDV infection, and to identify amino acids as markers that can be used in the diagnosis, pathogenesis, and treatment of the disease. Heathy dogs (n=6), confirmed by clinical and laboratory examinations (Healthy group), and CDV-infected dogs (n=10) with neurological symptoms, confirmed by clinical, laboratory, and rapid diagnostic test kits (Distemper group), were used. CSF samples were obtained with an appropriate method and were subjected to 1H-NMR analysis. Identification was made on 10, whereas quantification on 8 amino acids. L-tyrosine, L-phenylalanine, L-threonine, and L-alanine concentrations were significantly lower, while L-histidine and L-tryptophan were significantly higher than the Healthy group (p<0.05). It was concluded that L-tyrosine could be used for assessing mental status changes, L-phenylalanine for evaluating neuroprotective responses, L-threonine and L-histidine for gauging the extent of neurodegeneration and ventricular degeneration, L-alanine for exploring cellular stress and energy metabolism, and L-tryptophan for understanding the process of sympathetic nervous system activation.

Health disparities among incarcerated populations: a crucial laboratory and pathology review.

The United States notoriously has one of the highest rates of incarceration in the world, yet scant attention to the health care needs of those incarcerated exists within laboratory medicine and pathology training and education. This article explores health disparities among incarcerated and released individuals regarding diagnostic laboratory testing and pathology services. A literature search was conducted for articles published between 2002 and 2023 using keywords including "healthcare," "incarcerated," "laboratory services," "pathology services," and "health insurance for prisoners." Central themes were extracted and discussed to reveal the realities of health care during and after release from incarceration. Excluded from the analysis were articles about the immediate or extended family of incarcerated persons. Incarcerated individuals have an increased risk for the development and exacerbation of communicable and noncommunicable diseases and mental health disorders, which results in exceedingly high morbidity and mortality rates. Policy changes are needed to mitigate disparities and improve health outcomes for incarcerated and released persons. Central to these disparities is decreased access to laboratory and pathology services, impeded by inadequate health care funding for these carceral institutions. Providing additional funding to the carceral system's health care budget is necessary to improve access to pathology and laboratory services.

Enhancing Patient Understanding of Laboratory Test Results: Systematic Review of Presentation Formats and Their Impact on Perception, Decision, Action, and Memory.

Direct access of patients to their web-based patient portal, including laboratory test results, has become increasingly common. Numeric laboratory results can be challenging to interpret for patients, which may lead to anxiety, confusion, and unnecessary doctor consultations. Laboratory results can be presented in different formats, but there is limited evidence regarding how these presentation formats impact patients' processing of the information. This study aims to synthesize the evidence on effective formats for presenting numeric laboratory test results with a focus on outcomes related to patients' information processing, including affective perception, perceived magnitude, cognitive perception, perception of communication, decision, action, and memory. The search was conducted in 3 databases (PubMed, Web of Science, and Embase) from inception until May 31, 2023. We included quantitative, qualitative, and mixed methods articles describing or comparing formats for presenting diagnostic laboratory test results to patients. Two reviewers independently extracted and synthesized the characteristics of the articles and presentation formats used. The quality of the included articles was assessed by 2 independent reviewers using the Mixed Methods Appraisal Tool. A total of 18 studies were included, which were heterogeneous in terms of study design and primary outcomes used. The quality of the articles ranged from poor to excellent. Most studies (n=16, 89%) used mock test results. The most frequently used presentation formats were numerical values with reference ranges (n=12), horizontal line bars with colored blocks (n=12), or a combination of horizontal line bars with numerical values (n=8). All studies examined perception as an outcome, while action and memory were studied in 1 and 3 articles, respectively. In general, participants' satisfaction and usability were the highest when test results were presented using horizontal line bars with colored blocks. Adding reference ranges or personalized information (eg, goal ranges) further increased participants' perception. Additionally, horizontal line bars significantly decreased participants' tendency to search for information or to contact their physician, compared with numerical values with reference ranges. In this review, we synthesized available evidence on effective presentation formats for laboratory test results. The use of horizontal line bars with reference ranges or personalized goal ranges increased participants' cognitive perception and perception of communication while decreasing participants' tendency to contact their physicians. Action and memory were less frequently studied, so no conclusion could be drawn about a single preferred format regarding these outcomes. Therefore, the use of horizontal line bars with reference ranges or personalized goal ranges is recommended to enhance patients' information processing of laboratory test results. Further research should focus on real-life settings and diverse presentation formats in combination with outcomes related to patients' information processing.

Locked-in syndrome post facet joint injection: a case report

Locked-in syndrome (LIS) is a neurological condition characterized by quadriplegia and anarthria with preservation of consciousness. This is a rare, but serious condition as patients with LIS are conscious and possess cognitive function, but cannot move or communicate verbally due to the paralysis of nearly all voluntary muscles in the body. We present a case of a 43-year-old lady who developed locked-in syndrome following a lumbar facet joint injection for chronic spinal pain. The patient developed a sudden onset of quadriplegia and loss of speech around 10 min after the injection. Neurological examination revealed preserved consciousness and alertness, with intact cranial nerve function. Diagnostic work-up, including neuroimaging and laboratory tests, ruled out hemorrhage or other structural lesions. We discuss the potential mechanisms underlying this unexpected complication, explore diagnostic challenges and treatment options. Despite its rarity, this case highlights the importance of careful patient selection, precise procedural technique, and prompt recognition of complications associated with interventional pain procedures. Abbreviations: ITP - immune thrombocytopenic purpura; LIS - Locked-in syndrome; SLE - systemic lupus erythematous; SIJ - sacroiliac joint Keywords: Locked-In Syndrome; Facet Joint Injection; Complication; Neurological; Case Report Citation: Hehsan MR, Ismet S, Hassan SK, Ibrahim K. Locked-in syndrome post facet joint injection: a case report Anaesth. pain intensive care 2024;28(5):951−954. DOI: 10.35975/apic.v28i5.2512 Received: July 22, 2024; Reviewed: September 05, 2024; Accepted: September 05, 2024

Efficacy and safety of novel freeze-dried plasma products in a porcine combat casualty model.

Hemorrhagic shock is well documented as a leading cause of preventable fatalities among military casualties. During military operations plasma can be transfused while waiting for whole blood. This study was conducted to assess the safety and efficacy of two new freeze-dried plasma formulations in a porcine model of traumatic hemorrhagic shock. In the face of species-specific transfusion, transfusible blood products were derived from porcine sources. The efficacy of three lyophilized plasma (LP) formulations was evaluated: lyophilized plasma (LP), concentrated lyophilized plasma (CLP), and platelet-rich concentrated lyophilized plasma (PCLP). Pigs were subjected to multi-trauma and hemorrhagic shock. Ninety minutes post-shock induction, the animals were treated with one of the three lyophilized products. Monitoring included systolic blood pressure and cardiac output. Point-of-care and laboratory diagnostic tests were used to assess renal function, real-time hemostasis (ROTEM), and coagulation. Histological examinations of kidney, lung, and muscle tissues were conducted 4 h after shock induction. CLP and PCLP significantly improved systolic blood pressure and cardiac output and positively influenced base excess, creatinine, various ROTEM, and coagulation markers compared with standard LP without histologic modification. No adverse effect was associated with the transfusion of any of the plasma products throughout the experimental procedures. Both CLP and PCLP exhibit promising therapeutic potential for managing hemorrhagic shock in scenario where whole blood supplies are limited. However, the distinct physiological and coagulation characteristics of the swine model necessitate further investigation using humanized preclinical models to fully understand their clinical applicability and constraints.

Diagnostic Strategies in the Era of Monkeypox Resurgence: A Comprehensive Analysis.

The resurgence of monkeypox (Mpox), an orthopoxvirus infection closely related to smallpox, presents a significant global health challenge. This study presents a comprehensive overview of Mpox, focusing on its clinical manifestations, diagnostic strategies, and testing methodologies. A thorough review of the literature and available data on Mpox, emphasizing diagnostic assays, clinical indicators, and laboratory testing, constitutes the core of this analysis. The study involves insights from Mpox patients and healthcare professionals engaged in its diagnosis and management. Contextualizing the research within the global spread of Mpox addresses the complexities associated with the diagnosis of the disease. The findings illuminate diverse Mpox diagnostic techniques, encompassing viral culture, immunological methods, serology,quantitative polymerase chain reaction (qPCR), electron microscopy, and advanced technologies such as artificial intelligence (AI) and the GeneXpert system. qPCR is highlighted as the benchmark for MPXV detection and quantification. These diagnostic advancements have significantly enhanced the precision and efficiency of Mpox diagnosis, facilitating prompt identification and treatment of infected individuals. The study underscores the critical importance of accurate and timely diagnosis, proper handling and transportation of clinical specimens, and the imperative for point-of-care (POC) testing to control the global spread of Mpox.

Pulmonary Artery Aneurysm in Behcet’s Disease Manifesting as Haemoptysis: A Case Report and Literature Review

Abstract Pulmonary artery aneurysm (PAA) in Behcet’s disease is a rare yet potentially life-threatening manifestation, often presenting as haemoptysis. We present a case report of a 33-year-old male with recurrent haemoptysis and a history of oral and genital ulcers, diagnosed with Behcet’s disease complicated by PAA. Diagnostic workup, including imaging and laboratory tests, confirmed the diagnosis, leading to prompt initiation of immunosuppressive therapy and meticulous follow-up. The patient showed significant clinical improvement with reduced ulcer severity and no new episodes of haemoptysis during one-year follow-up. Our case underscores the importance of early recognition, multidisciplinary management, and close monitoring to optimize outcomes in Behcet’s disease with pulmonary involvement. A comprehensive literature review further elucidates the clinical nuances, diagnostic challenges, and therapeutic strategies associated with this rare manifestation, highlighting the need for collaborative care and tailored interventions to mitigate complications and improve patient prognosis.

Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.

The advent of next-generation sequencing (NGS) has enhanced the diagnostic efficacy for monogenic diseases, while presenting challenges in achieving consistent diagnoses. We retrospectively analyzed the concordance rate and reasons for the inconsistency between the original diagnostic result from the genetic testing laboratory and the variant validation result from the prenatal diagnostic center. The validation procedure comprised three stages: validation of variant detection, reevaluation of variant classification, and assessment of recurrence risk, which involved verifying the mode of inheritance and parental carriage. In total, 17 (6%) of the 286 families affected by rare monogenic diseases showed different results during the variant validation procedure. These cases comprised four (23.5%) with variant detection errors, 12 (70.5%) with inconsistent interpretation, and one (6%) with non-Mendelian inheritance patterns. False-positive NGS results confirmed by Sanger sequencing were related to pseudogenes and GC-rich regions. The classification of the 17 variants was altered in the 12 cases owing to various factors. The case with an atypical inheritance pattern was originally considered autosomal recessiveinheritance, but was diagnosed as maternal uniparental disomy after additional genetic analysis. We underscored the significance of variant validation by prenatal diagnostic centers. Families affected by monogenic diseases with reproductive plans should be referred to prenatal genetic centers as early as possible to avoid different results that may postpone subsequent prenatal diagnosis.

27. Somatic genomic testing and variant curation practices in Australian and New Zealand diagnostic testing laboratories

27. Somatic genomic testing and variant curation practices in Australian and New Zealand diagnostic testing laboratories

Acute and chronic complication profiles among patients with chronic kidney disease in Alberta, Canada: a retrospective observational study

BackgroundChronic kidney disease (CKD) poses a substantial burden to individuals, caregivers, and healthcare systems. CKD is associated with higher risk for adverse events, including renal failure, cardiovascular disease, and death. This study aims to describe comorbidities and complications in patients with CKD.MethodsWe conducted a retrospective observational study linking administrative health databases in Alberta, Canada. Adults with CKD were identified (April 1, 2010 and March 31, 2019) and indexed on the first diagnostic code or laboratory test date meeting the CKD algorithm criteria. Cardiovascular, renal, diabetic, and other comorbidities were described in the two years before index; complications were described for events after index date. Complications were stratified by CKD stage, atherosclerotic cardiovascular disease (ASCVD), and type 2 diabetes mellitus (T2DM) status at index.ResultsThe cohort included 588,170 patients. Common chronic comorbidities were hypertension (36.9%) and T2DM (24.1%), while 11.4% and 2.6% had ASCVD and chronic heart failure, respectively. Common acute complications were infection (58.2%) and cardiovascular hospitalization (24.4%), with rates (95% confidence interval [CI]) of 29.4 (29.3–29.5) and 8.37 (8.32–8.42) per 100 person-years, respectively. Common chronic complications were dyslipidemia (17.3%), anemia (14.7%), and hypertension (11.1%), with rates (95% CI) of 11.9 (11.7–12.1), 4.76 (4.69–4.83), and 13.0 (12.8–13.3) per 100 person-years, respectively. Patients with more advanced CKD, ASCVD, and T2DM at index exhibited higher complication rates.ConclusionsOver two-thirds of patients with CKD experienced complications, with higher rates observed in those with cardio-renal-metabolic comorbidities. Strategies to mitigate risk factors and complications can reduce patient burden.

Asparagus officinalis Herb-Derived Carbon Quantum Dots: Luminescent Probe for Medical Diagnostics.

The utilization of natural materials for the synthesis of highly fluorescent carbon quantum dots (CQDs) presents a sustainable approach to overcome the challenges associated with traditional chemical precursors. Here, we report the synthesis of novel S,N-self-doped CQDs (S,N@CQDs) derived from asparagus officinalis herb. These S,N@CQDs exhibit 16.7 % fluorescence quantum yield, demonstrating their potential in medical diagnostics. We demonstrate the efficacy of S,N@CQDs as luminescent probes for the detection of anti-pathogenic medications metronidazole (MTZ) and nitazoxanide (NTZ) over concentration ranges of 0.0-180.0 μM (with a limit of detection (LOD) of 0.064 μM) and 0.25-40.0 μM (LOD of 0.05 μM), respectively. The probes were successfully applied to determine MTZ and NTZ in medicinal samples, real samples, and spiked human plasma, with excellent recovery rates ranging from 99.82 % to 103.03 %. Additionally, S,N@CQDs demonstrate exceptional efficacy as diagnostic luminescent probes for hemoglobin (Hb) detection over a concentration range of 0-900 nM, with a minimal detectability of 9.24 nM, comparable to commercially available medical laboratory diagnostic tests. The eco-friendly synthesis and precise detection limits of S,N@CQDs meet necessary analytical requirements and hold promise for advancing diagnostic capabilities in clinical settings. This research signifies a significant step towards sustainable and efficient fluorescence-based medical diagnostics.

Economics of reducing response time to foreign-animal disease in the United States with point-of-care diagnostic tests

BackgroundAs low probability events, United States producers, value chain actors, and veterinary services (VS) have limited experience with identifying foreign animal disease (FAD), which can allow FADs to spread undetected. Point-of-care (POC) diagnostic testing may help reduce the time from detecting an initial suspect case to implementing actionable interventions compared to the current approach of only using laboratory diagnostic testing for disease diagnosis and confirmation. To evaluate the value of the reduced response time, we compare the associated costs between the two diagnostic approaches while accounting for the uncertainty surrounding the size of a FAD event. MethodsWe apply a state-contingent approach (SCA) to model the uncertainty surrounding a FAD through alternative events, where the event defines the scale of outbreak size and its duration. We apply this approach within a cost-benefit framework (CBA) to determine the economic value from the two testing investment strategies to help explain the policymaker’s response (and costs) to alternative FAD events while also considering the cost impacts on the producers from each event. ResultsCompared to the current laboratory strategy, a POC strategy that reduces response time by 0.5-days (swine, cattle scenarios) and 1.5-days (poultry scenario) may provide cost-saving to both producers and public response efforts. The benefit-cost analysis further suggests that despite the higher fixed costs to adopt the POC strategy, the swine and cattle sectors may benefit while the benefits may not be as pronounced in the poultry sector. DiscussionPOC testing that can reduce the time between detection and response during a FAD event may be a sound strategy for public expenditure and provide cost-savings for producers, especially when minimal fixed costs are incurred. However, to fully determine the value of POC testing, the consequences (costs) associated with potential actions if something goes wrong, (e.g. false positive results), should be considered in future studies.