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The Neurodiagnostic Journal Jun 2024Intraoperative neurophysiological monitoring (IONM) is shown to be useful in surgeries when the nervous system is at risk. Its success in part relies upon proper setup...
Intraoperative neurophysiological monitoring (IONM) is shown to be useful in surgeries when the nervous system is at risk. Its success in part relies upon proper setup of often dozens of electrodes correctly placed and secured upon patients and inserted in specific stimulating and recording receptacles. Given the complicated setups and the demanding operating room environment, errors in setup are bound to occur. These have led to false negatives associated with new patient morbidities including, at times, paralysis. No studies quantify the prevalence of these types of setup errors. Approximately 800,000 operations annually utilize intraoperative neuromonitoring in the US alone, so even a small percentage of errors suggests clinical significance. In addition, these types of errors hinder the overall effectiveness of IONM and may result in lower reported sensitivities and lower cost-effectiveness of this important service. We sought to discover through a prospective study and verification through chart review the prevalence of "electrode-swap" errors (when recording and/or stimulating electrodes are incorrectly placed on the patient or in the IONM equipment during setup) across all procedures monitored. We found recording and/or stimulating electrode set up errors in 24 of 454 cases (5.3%). These data and examples of how errors were discovered intraoperatively are reported. We also offer techniques to help reduce this error rate. This study demonstrates a significant potential avoidable error in IONM diagnostic utility, patient outcome, and sensitivity/specificity of alert criteria. The value of identifying and correcting these errors is consequential, multifaceted, and far-reaching.
PubMed: 38941588
DOI: 10.1080/21646821.2024.2366563 -
Neurology(R) Neuroimmunology &... Sep 2024To systematically describe the clinical picture of double-antibody seronegative neuromyelitis optica spectrum disorders (DN-NMOSD) with specific emphasis on retinal...
BACKGROUND AND OBJECTIVES
To systematically describe the clinical picture of double-antibody seronegative neuromyelitis optica spectrum disorders (DN-NMOSD) with specific emphasis on retinal involvement.
METHODS
Cross-sectional data of 25 people with DN-NMOSD (48 eyes) with and without a history of optic neuritis (ON) were included in this study along with data from 25 people with aquaporin-4 antibody seropositive neuromyelitis optica spectrum disorder (AQP4-NMOSD, 46 eyes) and from 25 healthy controls (HCs, 49 eyes) for comparison. All groups were matched for age and sex and included from the collaborative retrospective study of retinal optical coherence tomography (OCT) in neuromyelitis optica (CROCTINO). Participants underwent OCT with central postprocessing and local neurologic examination and antibody testing. Retinal neurodegeneration was quantified as peripapillary retinal nerve fiber layer thickness (pRNFL) and combined ganglion cell and inner plexiform layer thickness (GCIPL).
RESULTS
This DN-NMOSD cohort had a history of [median (inter-quartile range)] 6 (5; 9) attacks within their 5 ± 4 years since onset. Myelitis and ON were the most common attack types. In DN-NMOSD eyes after ON, pRNFL ( < 0.001) and GCIPL ( = 0.023) were thinner compared with eyes of HCs. Even after only one ON episode, DN-NMOSD eyes already had considerable neuroaxonal loss compared with HCs. In DN-NMOSD eyes without a history of ON, pRNFL ( = 0.027) and GCIPL ( = 0.022) were also reduced compared with eyes of HCs. However, there was no difference in pRNFL and GCIPL between DN-NMOSD and AQP4-NMOSD for the whole group and for subsets with a history of ON and without a history of ON-as well as between variances of retinal layer thicknesses.
DISCUSSION
DN-NMOSD is characterized by severe retinal damage after ON and attack-independent retinal neurodegeneration. Most of the damage occurs during the first ON episode, which highlights the need for better diagnostic markers in DN-NMOSD to facilitate an earlier diagnosis as well as for effective and early treatments. In this study, people with DN-NMOSD presented with homogeneous clinical and imaging findings potentially suggesting a common retinal pathology in these patients.
Topics: Humans; Neuromyelitis Optica; Female; Male; Adult; Cross-Sectional Studies; Middle Aged; Tomography, Optical Coherence; Aquaporin 4; Retrospective Studies; Autoantibodies; Retina
PubMed: 38941573
DOI: 10.1212/NXI.0000000000200273 -
PloS One 2024Obesity is a high-morbidity chronic condition and risk factor for multiple diseases that necessitate imaging. This study assesses the relationship between BMI and...
OBJECTIVE
Obesity is a high-morbidity chronic condition and risk factor for multiple diseases that necessitate imaging. This study assesses the relationship between BMI and same-year utilization of CT and MR imaging in a large healthcare population.
METHODS
In this retrospective population-based study, all patients aged ≥18 years with a documented BMI in the multi-institutional Cosmos database were included. Cohorts were identified based on ≥1 documented BMI in 2021 within pre-defined ranges. For each cohort, we assessed the percentage of patients undergoing head, neck, chest, spine, or abdomen/pelvis CT and MR during the same year. Disease severity was quantified based on emergency department (ED) visits and mortality.
RESULTS
In our population of 49.6 million patients, same-year CT and MR utilization was 14.5 ±0.01% and 6.0±0.01%, respectively. The underweight cohort had the highest CT (25.8±0.1%) and MR (8.01 ± 0.05) imaging utilization. At high extremes of BMI (>50 kg/m2), CT utilization mildly increased (18.4±0.1%), but MR utilization decreased (5.3±0.04%). While morbidity differences may explain some BMI-utilization relationships, lower MR utilization in the BMI>50 cohort contrasts with higher age-adjusted mortality (1.8±0.03%) and ED utilization (32.4±0.1%) in this cohort relative to normal weight (1.5±0.01% and 25.7±0.02%, respectively).
CONCLUSION
Underweight patients had disproportionately high CT/MR utilization, and high extremes of BMI are associated with mildly higher CT and lower MR utilization than the normal weight cohort. The elevated mortality and ED utilization in severely obese patients contrasts with their lower MR imaging utilization. Our findings may assist public health efforts to accommodate obesity trends.
Topics: Humans; Body Mass Index; Magnetic Resonance Imaging; Male; Female; Tomography, X-Ray Computed; Middle Aged; Retrospective Studies; Adult; Obesity; Aged; Emergency Service, Hospital; Morbidity
PubMed: 38941332
DOI: 10.1371/journal.pone.0306087 -
PloS One 2024Many newborn screening programs worldwide have introduced screening for diseases using DNA extracted from dried blood spots (DBS). In Germany, DNA-based assays are...
BACKGROUND
Many newborn screening programs worldwide have introduced screening for diseases using DNA extracted from dried blood spots (DBS). In Germany, DNA-based assays are currently used to screen for severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD).
METHODS
This study analysed the impact of pre-analytic DNA carry-over in sample preparation on the outcome of DNA-based newborn screening for SCID and SMA and compared the efficacy of rapid extraction versus automated protocols. Additionally, the distribution of T cell receptor excision circles (TREC) on DBS cards, commonly used for routine newborn screening, was determined.
RESULTS
Contaminations from the punching procedure were detected in the SCID and SMA assays in all experimental setups tested. However, a careful evaluation of a cut-off allowed for a clear separation of true positive polymerase chain reaction (PCR) amplifications. Our rapid in-house extraction protocol produced similar amounts compared to automated commercial systems. Therefore, it can be used for reliable DNA-based screening. Additionally, the amount of extracted DNA significantly differs depending on the location of punching within a DBS.
CONCLUSIONS
Newborn screening for SMA and SCID can be performed reliably. It is crucial to ensure that affected newborns are not overlooked. Therefore a carefully consideration of potential contaminating factors and the definition of appropriate cut-offs to minimise the risk of false results are of special concern. It is also important to note that the location of punching plays a pivotal role, and therefore an exact quantification of TREC numbers per μl may not be reliable and should therefore be avoided.
Topics: Humans; Neonatal Screening; Infant, Newborn; Muscular Atrophy, Spinal; Severe Combined Immunodeficiency; DNA; Dried Blood Spot Testing; High-Throughput Screening Assays; Polymerase Chain Reaction
PubMed: 38941330
DOI: 10.1371/journal.pone.0306329 -
PloS One 2024This cross-sectional study aims to describe doubts regarding the diagnosis and treatment of syphilis in pregnancy among primary care professionals in a telehealth...
This cross-sectional study aims to describe doubts regarding the diagnosis and treatment of syphilis in pregnancy among primary care professionals in a telehealth service. All teleconsultations (TCs) offered through TelessaúdeRS-UFRGS to primary health care (PHC) services in the state of Rio Grande do Sul between 2018 and 2021 involving syphilis in pregnancy were included. A total of 356 (TCs) were analyzed. The main doubts about syphilis during pregnancy raised by primary care professionals were related to the need for retreatment (35%), diagnostic definition (23%) and initial treatment (16%). In addition, 95% of TCs were suitable for diagnosing and treating syphilis based on the 2020 Brazilian Ministry of Health guideline. This study suggests that TCs can identify failures in the diagnosis and treatment of public health problems and support decision making in PHC involving syphilis in pregnancy.
Topics: Humans; Female; Pregnancy; Syphilis; Telemedicine; Primary Health Care; Cross-Sectional Studies; Adult; Pregnancy Complications, Infectious; Brazil; Health Personnel
PubMed: 38941327
DOI: 10.1371/journal.pone.0306192 -
JAMA Network Open Jun 2024While most patients with acute pancreatitis (AP) fulfill diagnostic criteria with characteristic abdominal pain and serum lipase levels of at least 3 times the upper...
IMPORTANCE
While most patients with acute pancreatitis (AP) fulfill diagnostic criteria with characteristic abdominal pain and serum lipase levels of at least 3 times the upper limit of normal (reference range) at presentation, early imaging is often used for confirmation. A prior prediction model and corresponding point-based score were developed using nonimaging parameters to diagnose AP in patients presenting to the emergency department (ED).
OBJECTIVE
To evaluate the performance of the prediction model to diagnose AP in a prospective patient cohort.
DESIGN, SETTING, AND PARTICIPANTS
This prospective diagnostic study included consecutive adult patients presenting to the ED between January 1, 2020, and March 9, 2021, at 2 large academic medical centers in the northeastern US with serum lipase levels at least 3 times the upper limit of normal. Patients transferred from outside institutions or with malignant disease and established intra-abdominal metastases, acute trauma, or altered mentation were excluded. Data were analyzed from October 15 to October 23, 2023.
EXPOSURES
Participants were assigned scores for initial serum lipase level, number of prior AP episodes, prior cholelithiasis, abdominal surgery within 2 months, presence of epigastric pain, pain of worsening severity, duration from pain onset to presentation, and pain level at ED presentation.
MAIN OUTCOME AND MEASURES
A final diagnosis of AP, established by expert review of hospitalization records.
RESULTS
Prospective scores in 349 participants (mean [SD] age, 53.0 [18.8] years; 184 women [52.7%]; 66 Black [18.9%]; 199 White [57.0%]) demonstrated an area under the receiver operating characteristics curve of 0.91. A score of at least 6 points achieved highest accuracy (F score, 82.0), corresponding to a sensitivity of 81.5%, specificity of 85.9%, positive predictive value of 82.6%, and negative predictive value of 85.1% for AP diagnosis. Early computed tomography or magnetic resonance imaging was performed more often in participants predicted to have AP (116 of 155 [74.8%] with a score ≥6 vs 111 of 194 [57.2%] with a score <6; P < .001). Early imaging revealed an alternative diagnosis in 8 of 116 participants (6.9%) with scores of at least 6 points, 1 of 93 (1.1%) with scores of at least 7 points, and 1 of 73 (1.4%) with scores of at least 8 points.
CONCLUSIONS AND RELEVANCE
In this multicenter diagnostic study, the prediction model demonstrated excellent AP diagnostic accuracy. Its application may be used to avoid unnecessary confirmatory imaging.
Topics: Humans; Pancreatitis; Female; Male; Prospective Studies; Middle Aged; Adult; Lipase; Emergency Service, Hospital; Aged; Predictive Value of Tests; Acute Disease; Abdominal Pain
PubMed: 38941094
DOI: 10.1001/jamanetworkopen.2024.19014 -
Liver International : Official Journal... Jun 2024The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long-term complications, making them relevant... (Review)
Review
The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long-term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists, gastroenterologists and dermatologists. To diagnose a patient with porphyria requires appropriate biochemical investigations, as clinical features alone are not specific enough. Furthermore, it is important to be aware that abnormalities of porphyrin accumulation and excretion occur in many other disorders that are collectively far more common than the porphyrias. In this review, we provide an overview of porphyria-related tests with their strengths and limitations, give recommendations on requesting and diagnostic approaches in non-expert and expert laboratories for different clinical scenarios and discuss the role of genetic testing in the porphyrias. To diagnose porphyria in a currently symptomatic patient requires analysis of biochemical markers to demonstrate typical patterns of haem precursors in urine, faeces and blood. The use of genomic sequencing in diagnostic pathways for porphyrias requires careful consideration, and the demonstration of increased porphyrin-related markers is necessary prior to genomic testing in symptomatic patients. In the acute porphyrias, genomic testing is presently a useful adjunct for genetic counselling of asymptomatic family members and the most common cutaneous porphyria, porphyria cutanea tarda, is usually a sporadic, non-hereditary disease. Getting a correct and timely porphyria diagnosis is essential for delivering appropriate care and ensuring best patient outcome.
PubMed: 38940544
DOI: 10.1111/liv.16012 -
Cytometry. Part B, Clinical Cytometry Jun 2024Over the last 15 years activity of diagnostic flow cytometry services have evolved from monitoring of CD4 T cell subsets in HIV-1 infection to screening for primary... (Review)
Review
European flow cytometry quality assurance guidelines for the diagnosis of primary immune deficiencies and assessment of immune reconstitution following B cell depletion therapies and transplantation.
Over the last 15 years activity of diagnostic flow cytometry services have evolved from monitoring of CD4 T cell subsets in HIV-1 infection to screening for primary and secondary immune deficiencies syndromes and assessment of immune constitution following B cell depleting therapy and transplantation. Changes in laboratory activity in high income countries have been driven by initiation of anti-retroviral therapy (ART) in HIV-1 regardless of CD4 T cell counts, increasing recognition of primary immune deficiency syndromes and the wider application of B cell depleting therapy and transplantation in clinical practice. Laboratories should use their experience in standardization and quality assurance of CD4 T cell counting in HIV-1 infection to provide immune monitoring services to patients with primary and secondary immune deficiencies. Assessment of immune reconstitution post B cell depleting agents and transplantation can also draw on the expertise acquired by flow cytometry laboratories for detection of CD34 stem cell and assessment of MRD in hematological malignancies. This guideline provides recommendations for clinical laboratories on providing flow cytometry services in screening for immune deficiencies and its emerging role immune reconstitution after B cell targeting therapies and transplantation.
PubMed: 38940298
DOI: 10.1002/cyto.b.22195 -
The Cochrane Database of Systematic... Jun 2024Peripherally inserted central catheters (PICCs) facilitate diagnostic and therapeutic interventions in health care. PICCs can fail due to infective and non-infective... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Peripherally inserted central catheters (PICCs) facilitate diagnostic and therapeutic interventions in health care. PICCs can fail due to infective and non-infective complications, which PICC materials and design may contribute to, leading to negative sequelae for patients and healthcare systems.
OBJECTIVES
To assess the effectiveness of PICC material and design in reducing catheter failure and complications.
SEARCH METHODS
The University of Queensland and Cochrane Vascular Information Specialist searched the Cochrane Vascular Specialised Register, CENTRAL, MEDLINE, Embase, and CINAHL databases and the WHO ICTRP and ClinicalTrials.gov trials registers to 16 May 2023. We aimed to identify other potentially eligible trials or ancillary publications by searching the reference lists of retrieved included trials, as well as relevant systematic reviews, meta-analyses, and health technology assessment reports. We contacted experts in the field to ascertain additional relevant information.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) evaluating PICC design and materials.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methods. Our primary outcomes were venous thromboembolism (VTE), PICC-associated bloodstream infection (BSI), occlusion, and all-cause mortality. Secondary outcomes were catheter failure, PICC-related BSI, catheter breakage, PICC dwell time, and safety endpoints. We assessed the certainty of evidence using GRADE.
MAIN RESULTS
We included 12 RCTs involving approximately 2913 participants (one multi-arm study). All studies except one had a high risk of bias in one or more risk of bias domain. Integrated valve technology compared to no valve technology for peripherally inserted central catheter design Integrated valve technology may make little or no difference to VTE risk when compared with PICCs with no valve (risk ratio (RR) 0.71, 95% confidence interval (CI) 0.19 to 2.63; I² = 0%; 3 studies; 437 participants; low certainty evidence). We are uncertain whether integrated valve technology reduces PICC-associated BSI risk, as the certainty of the evidence is very low (RR 0.20, 95% CI 0.01 to 4.00; I² = not applicable; 2 studies (no events in 1 study); 257 participants). Integrated valve technology may make little or no difference to occlusion risk when compared with PICCs with no valve (RR 0.86, 95% CI 0.53 to 1.38; I² = 0%; 5 studies; 900 participants; low certainty evidence). We are uncertain whether use of integrated valve technology reduces all-cause mortality risk, as the certainty of evidence is very low (RR 0.85, 95% CI 0.44 to 1.64; I² = 0%; 2 studies; 473 participants). Integrated valve technology may make little or no difference to catheter failure risk when compared with PICCs with no valve (RR 0.80, 95% CI 0.62 to 1.03; I² = 0%; 4 studies; 720 participants; low certainty evidence). We are uncertain whether integrated-valve technology reduces PICC-related BSI risk (RR 0.51, 95% CI 0.19 to 1.32; I² = not applicable; 2 studies (no events in 1 study); 542 participants) or catheter breakage, as the certainty of evidence is very low (RR 1.05, 95% CI 0.22 to 5.06; I² = 20%; 4 studies; 799 participants). Anti-thrombogenic surface modification compared to no anti-thrombogenic surface modification for peripherally inserted central catheter design We are uncertain whether use of anti-thrombogenic surface modified catheters reduces risk of VTE (RR 0.67, 95% CI 0.13 to 3.54; I² = 15%; 2 studies; 257 participants) or PICC-associated BSI, as the certainty of evidence is very low (RR 0.20, 95% CI 0.01 to 4.00; I² = not applicable; 2 studies (no events in 1 study); 257 participants). We are uncertain whether use of anti-thrombogenic surface modified catheters reduces occlusion (RR 0.69, 95% CI 0.04 to 11.22; I² = 70%; 2 studies; 257 participants) or all-cause mortality risk, as the certainty of evidence is very low (RR 0.49, 95% CI 0.05 to 5.26; I² = not applicable; 1 study; 111 participants). Use of anti-thrombogenic surface modified catheters may make little or no difference to risk of catheter failure (RR 0.76, 95% CI 0.37 to 1.54; I² = 46%; 2 studies; 257 participants; low certainty evidence). No PICC-related BSIs were reported in one study (111 participants). As such, we are uncertain whether use of anti-thrombogenic surface modified catheters reduces PICC-related BSI risk (RR not estimable; I² = not applicable; very low certainty evidence). We are uncertain whether use of anti-thrombogenic surface modified catheters reduces the risk of catheter breakage, as the certainty of evidence is very low (RR 0.15, 95% CI 0.01 to 2.79; I² = not applicable; 2 studies (no events in 1 study); 257 participants). Antimicrobial impregnation compared to non-antimicrobial impregnation for peripherally inserted central catheter design We are uncertain whether use of antimicrobial-impregnated catheters reduces VTE risk (RR 0.54, 95% CI 0.05 to 5.88; I² = not applicable; 1 study; 167 participants) or PICC-associated BSI risk, as the certainty of evidence is very low (RR 2.17, 95% CI 0.20 to 23.53; I² = not applicable; 1 study; 167 participants). Antimicrobial-impregnated catheters probably make little or no difference to occlusion risk (RR 1.00, 95% CI 0.57 to 1.74; I² = 0%; 2 studies; 1025 participants; moderate certainty evidence) or all-cause mortality (RR 1.12, 95% CI 0.71 to 1.75; I² = 0%; 2 studies; 1082 participants; moderate certainty evidence). Antimicrobial-impregnated catheters may make little or no difference to risk of catheter failure (RR 1.04, 95% CI 0.82 to 1.30; I² = not applicable; 1 study; 221 participants; low certainty evidence). Antimicrobial-impregnated catheters probably make little or no difference to PICC-related BSI risk (RR 1.05, 95% CI 0.71 to 1.55; I² = not applicable; 2 studies (no events in 1 study); 1082 participants; moderate certainty evidence). Antimicrobial-impregnated catheters may make little or no difference to risk of catheter breakage (RR 0.86, 95% CI 0.19 to 3.83; I² = not applicable; 1 study; 804 participants; low certainty evidence).
AUTHORS' CONCLUSIONS
There is limited high-quality RCT evidence available to inform clinician decision-making for PICC materials and design. Limitations of the current evidence include small sample sizes, infrequent events, and risk of bias. There may be little to no difference in the risk of VTE, PICC-associated BSI, occlusion, or mortality across PICC materials and designs. Further rigorous RCTs are needed to reduce uncertainty.
Topics: Humans; Randomized Controlled Trials as Topic; Catheterization, Peripheral; Catheter-Related Infections; Equipment Failure; Equipment Design; Venous Thromboembolism; Catheter Obstruction; Central Venous Catheters; Cause of Death; Bias; Catheterization, Central Venous; Bacteremia
PubMed: 38940297
DOI: 10.1002/14651858.CD013366.pub2 -
Pre-hospital evaluation of chest pain patients using the modified HEART-score: rationale and design.Future Cardiology Jun 2024This study assesses how ambulance paramedics using the modified HEART-score with a point-of-care cardiac troponin (cTn) compare to the emergency physicians using the...
This study assesses how ambulance paramedics using the modified HEART-score with a point-of-care cardiac troponin (cTn) compare to the emergency physicians using the modified HEART-score with a high-sensitive cTn (hs-cTn) in patients with suspected non-ST-elevation acute coronary syndrome (NSTE-ACS), focusing on interobserver agreement and diagnostic performance. In this prospective multicenter cohort, we compare four cTn testing strategies (serial point of care and hs-cTn cTn measurement) with and without the HEART-score. Outcomes include the HEART-score's interobserver agreement, NSTE-ACS at discharge, major adverse cardiovascular events (MACE) after 30 days, and diagnostic accuracy of the different strategies. The POPular HEART study aims to improve NSTE-ACS diagnostic pathways, promoting pre-hospital detection and ruling out of NSTE-ACS to minimize unnecessary hospitalizations and associated costs. NCT04851418 (ClinicalTrials.gov).
PubMed: 38940186
DOI: 10.1080/14796678.2024.2356995