Integrated Diagnostics for Rapid Quantitation of Biomarkers in Human Fluids

Author(s):  
Chenlu Hou ◽  
Kelly Karns ◽  
Amy E. Herr

A fast, accurate differential diagnosis is a tremendous challenge in clinical medicine. For example, in emergency settings differential diagnosis of infection from inflammation is needed, as a timely and actionable diagnosis is critical. Consequently, diagnostics capable of measuring multiple biomarkers would support clinical decision-making related to diagnosis, containment, and treatment. Microfluidic assays are exceptionally well-suited for near-patient clinical diagnostics (i.e., ambulance, emergency room, field hospital). We present spectrally multiplexed homogeneous electrophoretic immunoassays for specific protein disease biomarkers. Biomarkers are resolved quickly (< 60 s), in ultra-short separation lengths (< 1 mm), and at clinically relevant concentrations (nM). On-going work will be presented and centers on endogenous protein measurements in clinical samples in support of near-patient assessment.

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Marwa Abd Elmaksoud ◽  
Aya Attya Abeesh ◽  
Catarina Pereira ◽  
Marwa El-Saeed El-Deeb

Abstract Background Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. Case presentation The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. Conclusion The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.


2022 ◽  
pp. 194187442110567
Author(s):  
Naomi Niznick ◽  
Ronda Lun ◽  
Daniel A. Lelli ◽  
Tadeu A. Fantaneanu

We present a clinical reasoning case of 42-year-old male with a history of type 1 diabetes who presented to hospital with decreased level of consciousness. We review the approach to coma including initial approach to differential diagnosis and investigations. After refining the diagnostic options based on initial investigations, we review the clinical decision-making process with a focus on narrowing the differential diagnosis, further investigations, and treatment.


2020 ◽  
pp. 1-14
Author(s):  
Pat Croskerry

Medical error is one of the leading causes of death, and most of these errors appear to occur in the ways that practitioners’ thoughts and feelings impact their decision making. Major gains have been made in the cognitive sciences in the past few decades that have provided a model for understanding how decisions are made—dual process theory. It is an excellent platform on which to examine the different ways decisions are made. Importantly, it allows for the examination of the pervasive influence of cognitive and affective biases on clinical decision making. Current medical training appears to fall short of what is needed to produce rational decision makers, due to what has been referred to as a mindware gap. Practitioners need to move from routine expertise to a higher level of expertise that will close this gap. A clear difficulty lies in finding ways of understanding and teaching the clinical decision-making process that do not violate the ecological characteristics of real-time clinical practice. By preserving as much as possible the rich clinical detail that makes up clinical medicine, this book attempts to offer important insights into the process.


2019 ◽  
pp. 221-240
Author(s):  
Isaac Tong ◽  
R. Jason Yong ◽  
Beth B. Hogans

Chapter 13 reviews some common pain-associated emergencies and also discusses some complications of pain treatments that require immediate attention. Pain is a common occurrence in emergent illness, and some complications of pain treatments require emergent management. Chest pain is an excellent example of clinical decision-making following a process of organized, rapid pain assessment and then diagnostic and treatment reasoning based on the findings and observations of the clinical assessment. Providers assessing patients for acute chest pain elicit basic pain characteristics of region, quality, severity, and timing as well as usually associated factors and then pursue testing and treatment for elements in the differential diagnosis accordingly. The chapter illustrates this same process applied to conditions of acute abdominal, limb, headache, and spine emergencies. In the second part of the chapter, emergencies arising in the context of pain treatments are discussed, including overdose and withdrawal from opioids, benzodiazepines, and other pain-active medications as well as pump and device complications.


2018 ◽  
Vol 39 (04) ◽  
pp. 324-332
Author(s):  
Courtney Byrd

AbstractClinicians commonly report difficulty determining whether the disfluencies produced by their clients are indicative of stuttering or suggestive of something else, such as cluttering, autism, language impairment, or second language learning. In our clinical decision-making process, we identify features unique to specific speech and/or language disorders. This identification enables differential diagnosis in most cases. But what happens when features appear to overlap and, as a result, compromise our clinical decision making? This article provides information to assist in the differential diagnosis of stuttering, particularly as it pertains to the assessment of children who speak more than one language. It explores similarities in the speech behaviors produced by these speakers, contrasting them with stuttering behaviors in monolingual English speakers.


2021 ◽  
Vol 27 (2) ◽  
pp. 146045822110075
Author(s):  
Duc Long Duong ◽  
Malitha Humayun Kabir ◽  
Rong Fu Kuo

Untreated caries is significant problem that affected billion people over the world. Therefore, the appropriate method and accuracy of caries detection in clinical decision-making in dental practices as well as in oral epidemiology or caries research, are required urgently. The aim of this study was to introduce a computational algorithm that can automate recognize carious lesions on tooth occlusal surfaces in smartphone images according to International Caries Detection and Assessment System (ICDAS). From a group of extracted teeth, 620 unrestored molars/premolars were photographed using smartphone. The obtained images were evaluated for caries diagnosis with the ICDAS II codes, and were labeled into three classes: “No Surface Change” ( NSC); “Visually Non-Cavitated” ( VNC); “Cavitated” ( C). Then, a two steps detection scheme using Support Vector Machine (SVM) has been proposed: “ C versus (VNC  +  NSC)” classification, and “ VNC versus NSC” classification. The accuracy, sensitivity, and specificity of best model were 92.37%, 88.1%, and 96.6% for “ C versus (VNC  +  NSC),” whereas they were 83.33%, 82.2%, and 66.7% for “ VNC versus NSC.” Although the proposed SVM system required further improvement and verification, with the data only imaged from the smartphone, it performed an auspicious potential for clinical diagnostics with reasonable accuracy and minimal cost.


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