Changes In Management Of Patients Research Articles

Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.

Analysis of the clinical utility of rapid whole-genome sequencing (rWGS) outside of the neonatal period is lacking. We describe the use of rWGS in PICU and cardiovascular ICU (CICU) patients across four institutions. Ambidirectional multisite cohort study. Four tertiary children's hospitals. Children 0-18 years old in the PICU or CICU who underwent rWGS analysis, from May 2016 to June 2023. None. A total of 133 patients underwent clinical, phenotype-driven rWGS analysis, 36 prospectively. A molecular diagnosis was identified in 79 patients (59%). Median (interquartile range [IQR]) age was 6 months (IQR 1.2 mo-4.6 yr). Median time for return of preliminary results was 3 days (IQR 2-4). In 79 patients with a molecular diagnosis, there was a change in ICU management in 19 patients (24%); and some change in clinical management in 63 patients (80%). Nondiagnosis changed management in 5 of 54 patients (9%). The clinical specialty ordering rWGS did not affect diagnostic rate. Factors associated with greater odds ratio (OR [95% CI]; OR [95% CI]) of diagnosis included dysmorphic features (OR 10.9 [95% CI, 1.8-105]) and congenital heart disease (OR 4.2 [95% CI, 1.3-16.8]). Variables associated with greater odds of changes in management included obtaining a genetic diagnosis (OR 16.6 [95% CI, 5.5-62]) and a shorter time to genetic result (OR 0.8 [95% CI, 0.76-0.9]). Surveys of pediatric intensivists indicated that rWGS-enhanced clinical prognostication (p < 0.0001) and contributed to a decision to consult palliative care (p < 0.02). In this 2016-2023 multiple-PICU/CICU cohort, we have shown that timely genetic diagnosis is feasible across institutions. Application of rWGS had a 59% (95% CI, 51-67%) rate of diagnostic yield and was associated with changes in critical care management and long-term patient management.

Refining Glaucoma Diagnosis and Treatment in Cataract Surgery Candidates: The Contribution of Preoperative OCT RNFL.

To evaluate the clinical significance of preoperative spectral domain optical coherence tomography (OCT) of the retinal nerve fiber layer (RNFL) thickness in identifying glaucoma and better managing patients scheduled for routine cataract surgery. Department of Ophthalmology, Shaare Zedek Medical Center, Jerusalem, Israel.Design: retrospective cohort study. Consecutive patients scheduled for cataract surgery were enrolled from February 2022 to August 2022. Participants underwent routine OCT RNFL studies which were evaluated by a glaucoma specialist. Findings were compared with those of preoperative fundus biomicroscopic examinations conducted by the referring ophthalmologist. The main outcomes were the incidence of newly detected glaucoma based upon OCT RNFL findings and the consequent changes in patient management. In total, 486 patients met the inclusion criteria, of whom 112 (23%) had abnormal RNFL. Thirty-one patients (6.4%) had abnormal OCT RNFL findings attributed to comorbidities other than glaucoma, and 81 patients (16.7%) were suspected to have glaucoma based upon their OCT RNFL findings, from which 44 patients (9%) were newly diagnosed with glaucoma or as glaucoma suspects, resulting in management modifications that included routine glaucoma follow-up (25 patients, 5.1%), initiation of intraocular pressure-lowering treatment (12 patients, 2.5%), and conversion to combined cataract-glaucoma surgery (7 patients, 1.4%). OCT RNFL for cataract surgery candidates proved valuable in detecting glaucoma that had not been revealed by standard fundus biomicroscopic examination. The additional information provided by OCT RNFL can potentially enhance patient management and optimize outcomes.

What is the added value of specialist radiology review of multidisciplinary team meeting cases in a tertiary carecenter?

Multidisciplinary team meetings (MDTMs) are an important component of the workload of radiologists. This study investigated how often subspecialized radiologists change patient management in MDTMs at a tertiary care institution. Over 2years, six subspecialty radiologists documented their contributions to MDTMs at a tertiary care center. Both in-house and external imaging examinations were discussed at the MDTMs. All imaging examinations (whether primary or second opinion) were interpreted and reported by subspecialty radiologist prior to the MDTMs. The management change ratio (MCratio) of the radiologist was defined as the number of cases in which the radiologist's input in the MDTM changed patient management beyond the information that was already provided by the in-house (primary or second opinion) radiology report, as a proportion of the total number of cases whose imaging examinations were prepared for demonstration in the MDTM. Sixty-eight MDTMs were included. The time required for preparing and attending all MDTMs (excluding imaging examinations that had not been reported yet) was 11,000min, with a median of 172min (IQR 113-200min) per MDTM, and a median of 9min (IQR 8-13min) per patient. The radiologists' input changed patient management in 113 out of 1138 cases, corresponding to an MCratio of 8.4%. The median MCratio per MDTM was 6% (IQR 0-17%). Radiologists' time investment in MDTMs is considerable relative to the small proportion of cases in which they influence patient management in the MDTM. The use of radiologists for MDTMs should therefore be improved. The use of radiologists for MDTMs (multidisciplinary team meetings) should be improved, because their time investment in MDTMs is considerable relative to the small proportion of cases in which they influence patient management in the MDTM. • Multidisciplinary team meetings (MDTMs) are an important component of the workload of radiologists. • In a tertiary care center in which all imaging examinations have already been interpreted and reported by subspecialized radiologists before the MDTM takes place, the median time investment of a radiologist for preparing and demonstrating one MDTM patient is 9min. • In this setting, the radiologist changes patient management in only a minority of cases in the MDTM.

Integrated diagnosis of grade 3-4 gliomas using targeted next-generation sequencing and traditional diagnostic data, and its overall implications on patient management

Adult gliomas vary significantly in terms of their genetics, epigenetics, phenotypes as well as clinical outcomes [1]. Optimal tumor classification that leads to more precise diagnoses, and which influences therapy selection is hence critically important. Targeted next-generation sequencing (NGS) is a highly reliable and efficient novel tool for the identification of biomarkers for the diagnosis of CNS tumors [2]. In this study, we aimed to determine the implications of integrating NGS findings with the traditional diagnostic data on clinical diagnostics and patient management. All patients who were diagnosed with glioma at our institution between 2019 and 2020 and whose tumor biopsy materials were analyzed by both traditional histomorphological and immunohistochemical diagnostic techniques as well as NGS were included in our study. Patients’ information was retrieved from the electronic medical record. Data analyzed included the histopathologic diagnosis, tumor grade, ki67, and the mutation status of TP53 and /or IDH, as well as other genes such as BRAF and HER2 for some patients. The overall concordance between NGS and the traditional diagnostic tools for IDH and TP53 mutations was also evaluated. Further, we derived the overall survival of patients using the Kaplan–Meier estimate. We identified 9 patients with grade 3-4 gliomas whose biopsy materials were analyzed by NGS as well as traditional diagnostic tools. Our patients were 33.3 % females and had a median age of 43 years old at diagnosis. In terms of the identification of gene mutations by NGS in comparison to immunohistochemistry (IHC), it was found that the concordance for mutant identification was 77.8 % (7/9) for IDH mutations and 55.6 % (5/9) for TP53 mutations. NGS further led to a change in patient management in which evidence-based targeted therapy (dabrafenib plus trametinib) was used for one patient (11.1 %) with BRAF V600E mutated astroblastoma. Integrating NGS with traditional diagnostic tools for the diagnosis of gliomas can have significant implications on patients. Such integrated diagnosis can lead to more precise diagnosis, enhanced identification of molecular markers, and offers the potential of using targeted therapies for patients.

State of the Art: Pouch Surgery in the 21st Century.

An ileoanal pouch with IPAA is the preferred method to restore intestinal continuity in patients who require a total proctocolectomy. Pouch surgery has evolved during the past decades thanks to increased experience and research, changes in the medical management of patients who require an ileal pouch, and technological innovations. To review the main changes in pouch surgery over the past 2 decades, with a focus on staging, minimally invasive and transanal approaches, pouch design, and anastomotic configuration. The decision on the staging approach depends on the patient's conditions, their indication for surgery, and the risk of anastomotic leak. A minimally invasive approach should be performed whenever feasible, but open surgery still has a role in this technically demanding operation. Transanal IPAA may be performed in experienced centers and may reduce conversion to open surgery in the hostile pelvis. The J-pouch is the easiest, fastest, and most commonly performed design, but other designs may be used when a J-pouch is not feasible. A stapled anastomosis without mucosectomy can be safely performed in the majority of cases, with a low incidence of rectal cuff neoplasia and better functional outcomes than handsewn. Finally, Crohn's disease is not an absolute contraindication to an ileoanal pouch, but pouch failure may be higher compared to other indications. Many technical nuances contribute to the success of an ileoanal pouch. The current standard of care is a laparoscopic J-pouch with double-stapled anastomosis, but this should not be seen as a dogma, and the optimal approach and design should be tailored to each patient. See video from symposium.

Changes in the Perioperative Management and Outcomes of Patients With Upper Tract Urothelial Carcinoma Undergoing Radical Nephroureterectomy at Memorial Sloan Kettering Cancer Center: Over 20 Years of Experience.

We evaluated surgical trends, perioperative management evolution, and oncologic outcomes in patients who underwent radical nephroureterectomy (RNU) for upper tract urothelial carcinoma (UTUC) at a tertiary cancer center over a 24-year period. Between 1995 and 2018, we evaluated 743 consecutive patients with UTUC who underwent RNU. Generalized additive models were used to estimate the associations between date of surgery and continuous outcomes using a linear model, dichotomous outcomes using a logit link, categorical outcomes using multinomial models, and 2- and 5-year survival outcomes using Cox proportional hazards models. Over the study period, preoperative diagnostic endoscopic biopsies increased from 10% to 66%, along with the proportion of patients who underwent RNU for high-grade disease from 55% to 91%. The rate of open RNU declined from 100% to 56% with a rise in minimally invasive approaches. Median lymph node yield increased with more retroperitoneal lymph node dissections performed. Neoadjuvant chemotherapy utilization increased with a contemporary utilization rate of 32%, coinciding with an increase in pT0 rate from 2% to 8%. Cancer-specific survival probabilities improved over the study period, while metastasis-free and overall survival remained stable. We found several changes in treatment patterns and outcomes for patients with UTUC over the past 2 decades. How individual alterations in management factors, such as patient selection, perioperative chemotherapy, lymphadenectomy, and salvage therapies, impact patient outcomes is challenging in the setting of multiple overlapping practice changes for this rare disease and warrants further investigation.

Multimodality Management of Thoracic Tumors: Initial Experience With a Multidisciplinary Thoracic Ablation Conference.

This study aimed to describe lesion-specific management of thoracic tumors referred for consideration of image-guided thermal ablation (IGTA) at a newly established multidisciplinary ablation conference. This retrospective single-center cohort study included consecutive patients with non-small cell lung cancer (NSCLC) or thoracic metastases evaluated from June 2020 to January 2022 in a multidisciplinary conference. Outcomes included the management recommendation, treatments received (IGTA, surgical resection, stereotactic body radiation therapy [SBRT], multimodality management), and number of tumors treated per patient. Pearson's chi-square test was used to assess for a change in management, and Poisson regression was used to compare the number of tumors by treatment received. The study included 172 patients (58 % female; median age, 69 years; 56 % thoracic metastases; 27 % multifocal primary lung cancer; 59 % ECOG 0 [range, 0-3]) assessed in 206 evaluations. For the patients with NSCLC, IGTA was considered the most appropriate local therapy in 12 %, equal to SBRT in 22 %, and equal to lung resection in 3 % of evaluations. For the patients with thoracic metastases, IGTA was considered the most appropriate local therapy in 22 %, equal to SBRT in 12 %, and equal to lung resection in 3 % of evaluations. Although all patients were referred for consideration of IGTA, less than one third of patients with NSCLC or thoracic metastases underwent IGTA (p < 0.001). Multimodality management allowed for treatment of more tumors per patient than single-modality management (p < 0.01). Multidisciplinary evaluation of patients with thoracic tumors referred for consideration of IGTA significantly changed patient management and facilitated lesion-specific multimodality management.

Intrahepatic cholangiocarcinoma: histological diversity and the role of the pathologist.

Intrahepatic cholangiocarcinoma (iCCA) is one of the primary liver cancers and presents with tumor heterogeneity. About 50% of iCCAs comprise actionable mutations, which completely change patient management. In addition, the precise diagnosis of iCCA, including subtype, has become crucial, and pathologists play an important role in this regard. This review focuses on iCCA heterogeneity; looking at different perspectives to guide diagnosis and optimal treatment choice.

Safe Deferral of Coronary Computed Tomography Angiography for Patients With a Low Pretest Probability of Coronary Artery Disease in 2019 European Society of Cardiology Guidelines.

Coronary computed tomography angiography is increasingly used as the first-line test for suspected coronary artery disease. Its overuse in a low pretest probability (PTP) population may lead to low diagnostic yield without change in patient management. We evaluated the clinical consequences of the updated 2019 European Society of Cardiology (ESC) chronic coronary syndromes guidelines' PTP estimation and whether imaging could be safely deferred in patients with a low PTP. This retrospective cohort included all 1753 consecutive patients who underwent coronary computed tomography angiography for suspected coronary artery disease at Helsinki University Hospital between 2009 and 2017. PTP was calculated according to the 2013 and 2019 ESC guidelines. The overall mortality, cardiac deaths, myocardial infarctions, and hospitalizations for unstable angina were acquired from national registry data for 1 to 10 years of follow-up (median, 4 years). Updated 2019 ESC guidelines classified 72% of the patients as having low PTP, whose imaging could have been deferred. The revascularization rate (4.7%) and annual cardiac mortality (0.4%) were low in the 857 patients reclassified from the recommendation to test, according to the 2013 ESC guideline, to deferral of coronary computed tomography angiography, according to the new 2019 guideline. The updated 2019 ESC guideline PTP score aids clinicians in safely preventing the overuse of cardiac imaging in patients deemed at low PTP of coronary artery disease. Diagnostic yield, revascularization rate, and cardiac mortality are low in patients with low pretest risk.

Artificial Intelligence in IBD: How Will It Change Patient Management?

Artificial Intelligence in IBD: How Will It Change Patient Management?

Now You See It, Now You Don't: Point-of-Care Ultrasound Identification of Left Ventricular Thrombus-in-Transit

Background: Left-sided intracardiac thrombi are most commonly seen in conditions with decreased cardiac flow, such as myocardial infarction or atrial fibrillation. They can be propagated into the systemic circulation, leading to a cerebrovascular accident. Identification of thrombus-in-transit via point-of-care ultrasound (POCUS) has the potential to change patient management given its association with high patient morbidity and mortality.Case Report: An intubated 60-year-old man was transferred to our emergency department for management of altered mental status and seizure-like activity. The patient was markedly hypotensive on arrival, and cardiac POCUS was performed to identify potential causes of hypotension. A left ventricular thrombus-in-transit was identified. The thrombus was notably absent on a repeat POCUS examination < 10 min later, which led to concern for thrombus propagation. Furthermore, the patient's vasopressor requirements had significantly increased in that time period. Subsequent emergent neuroimaging revealed a large ischemic stroke in the left internal carotid and middle cerebral artery distribution. The patient was, unfortunately, deemed to not be a candidate for either thrombectomy or thrombolysis and ultimately expired in the hospital.Why Should an Emergency Physician Be Aware of This? Serial POCUS examinations identified the propagation of this patient's thrombus-in-transit, leading the physician to change the initial presumptive diagnosis and treatment course, and pursue further imaging and workup for ischemic stroke. Identification of a thrombus-in-transit is a clue to potentially underlying critical pathology and should be followed with serial POCUS examinations to assess for treatment efficacy and thrombus propagation.

Optical Genomic Mapping Provides Unique Findings in Various Types of Myeloid Neoplasms

Introduction: Cytogenomic abnormalities are integral to disease classification, risk stratification, and treatment plans for patients with myeloid neoplasms (MNs). Standard cytogenetic (SCG) techniques, including chromosomal analysis (karyotyping) and fluorescence in situ hybridization (FISH), both carry limitations in detecting certain cytogenomic abnormalities, such as chromoanagenesis, a genomic catastrophe that results in extensive chromosomal rearrangements and copy number alterations. Optical genomic mapping (OGM) is a novel, non-sequencing technique that allows for high-resolution genome wide detection of all classes of structural variants (SVs) and copy number variants (CNVs). This study aimed to investigate cytogenomic alterations across different types of MNs and evaluate the added value of OGM alongside SCG in this context. Materials and methods: OGM was performed using Saphyr from Bionano Genomics (San Diego, USA) on blood or bone marrow from 146 patients diagnosed with various types of MNs over a 9-month period. All patients had karyotype and/or FISH results available. Cases were considered concordant if OGM and SCG both showed normal results or essentially identical cytogenetic abnormalities. Cases were summarized under ‘SCG only’ or ‘OGM only’ if abnormalities were detected by only one assay. Only Tier 1 (pathogenic) and Tier 2 (likely pathogenic) variants were included for a comparison purpose. Abnormalities leading to changes in disease classification, risk stratification, and/or potential patient management were considered as clinically significant. Of note: AML with PML::RARA, RUNX1T1::RUNX1 or MYH11::CBFB rearrangement identified during the fast FISH screen were not included in this study. Results: This study cohort included 90 AML, 26 myelodysplastic syndrome (MDS), 18 myeloproliferative neoplasms (MPN) and 11 MDS/MPN. Overall, 44 (30%) patients showed normal results and 47 (32%) patients showed completely matched cytogenomic abnormalities by OGM and SCG, the remaining 54 (37%) cases showed abnormalities detected by only one assay. Within these 54 cases there were 65 abnormalities detected by only one modality, 11 by SCG only and 54 by OGM only ( Table 1). Of them, 42 were clinically significant: 4 detected by SCG only (in 4 patients) and 38 by OGM only (in 37 patients) ( Table 2). The abnormalities that were detected by SCG but not by OGM were mainly clones or subclones of small (&amp;lt;20%) clonal size, which were below the limit of OGM detection, except one case with tetraploidy in a large clone (65%). The abnormalities detected by OGM but not by SCG mainly included chromoanagenesis (n=17), KMT2A partial tandem duplications (PTD, n=6), chromosomal /gene rearrangement (-R), thirteen being clinically significant: MECOM-R(n=4) , KMT2A-R(n=2) , JAK2-R (n=2) and 5 others in a single case each. Among the various types of MNs, OGM provided additional clinically relevant cytogenomic information in 28 (31%) patients with AML, 8 (31%) patients with MDS, 2 (18%) patients with MDS/MPN, and none (0%) with MPN. Conclusions: Overall, the cytogenomic results completely matched between OGM and SCG in 62% of patients with MNs. The high concordance results seen in MPN suggests OGM may not provide significant additional insight in this setting. OGM identified additional clinically relevant abnormalities in approximately 26% of patients in this cohort. The abnormalities detected by OGM, notably included chromoanagenesis and KMT2A PTDs, were found to occur more frequently in AML and MDS. These abnormalities, undetectable by SCG, are crucial to identify due to their association with significantly poorer prognosis. Additionally, certain abnormalities such as MECOM-R, KMT2A-R, and JAK2-R could potentially guide different therapeutic strategies.

Utility of cranial MRI in non-traumatic headache patients with prior negative head CT within 1 month

To investigate the importance of additional cranial magnetic resonance imaging (cMRI) in non-traumatic headache patients with a prior negative head computed tomography (CT) examination within 1 month. This retrospective study analysed 162 adult patients with non-traumatic headache who underwent cMRI within 1 month of a negative initial head CT at the emergency department (ED). The diagnostic yield and false-referral rate were analysed according to the revisit duration (early [≤1 week] versus late [>1-4 weeks] revisits), patient care settings (ED versus outpatient clinics [OPC]), and clinical variables. Subsequent patient management change (PMC), such as admission and treatment (AT) or outpatient clinic treatment (OT), were also investigated. The overall diagnostic yield of cMRI was 17.3% (28/162) and the false-referral rate was 1.2% (2/162). The diagnostic yield of cMRI was significantly different according to the patient care settings (ED, 24.7% [21/85] versus OPC, 9.1% [7/77]; p=0.02). The diagnostic yield was highest in the ED-early-revisit group (25.4% [18/71]), 45% (9/20) in those with systemic signs, and 46.7% (14/30) in those with symptom change. Among patients with positive cMRI findings, 90% (27/30) received AT and 3.3% (1/30) received OT. Among OPC-revisit-negative cMRI patients, PMC occurred in 0% (0/50). The diagnostic yield of cMRI was relatively high for headache patients who revisited the ED earlier, especially in those with systemic signs or symptom change. Most positive cMRI cases experienced PMC. Negative cMRI in OPC-revisit patients might help clarify the benign nature of a condition.

Clinical outcomes up to 9 years after [18F]flutemetamol amyloid-PET in a symptomatic memory clinic population

BackgroundPrevious studies demonstrated increases in diagnostic confidence and change in patient management after amyloid-PET. However, studies investigating longitudinal outcomes over an extended period of time are limited. Therefore, we aimed to investigate clinical outcomes up to 9 years after amyloid-PET to support the clinical validity of the imaging technique.MethodsWe analyzed longitudinal data from 200 patients (Mage = 61.8, 45.5% female, MMMSE = 23.3) suspected of early-onset dementia that underwent [18F]flutemetamol-PET. Baseline amyloid status was determined through visual read (VR). Information on mortality was available with a mean follow-up of 6.7 years (range = 1.1–9.3). In a subset of 108 patients, longitudinal cognitive scores and clinical etiological diagnosis (eDx) at least 1 year after amyloid-PET acquisition were available (M = 3.06 years, range = 1.00–7.02). VR − and VR + patients were compared on mortality rates with Cox Hazard’s model, prevalence of stable eDx using chi-square test, and longitudinal cognition with linear mixed models. Neuropathological data was available for 4 patients (mean delay = 3.59 ± 1.82 years, range = 1.2–6.3).ResultsAt baseline, 184 (92.0%) patients were considered to have dementia. The majority of VR + patients had a primary etiological diagnosis of AD (122/128, 95.3%), while the VR − group consisted mostly of non-AD etiologies, most commonly frontotemporal lobar degeneration (30/72, 40.2%). Overall mortality rate was 48.5% and did not differ between VR − and VR + patients. eDx at follow-up was consistent with baseline diagnosis for 92/108 (85.2%) patients, with most changes observed in VR − cases (VR − = 14/35, 40% vs VR + = 2/73, 2.7%, χ2 = 26.03, p < 0.001), who at no time received an AD diagnosis. VR + patients declined faster than VR − patients based on MMSE (β = − 1.17, p = 0.004), episodic memory (β = − 0.78, p = 0.003), fluency (β = − 1.44, p < 0.001), and attention scores (β = 16.76, p = 0.03). Amyloid-PET assessment was in line with post-mortem confirmation in all cases; two cases were VR + and showed widespread AD pathology, while the other two cases were VR − and showed limited amyloid pathology.ConclusionIn a symptomatic population, we observed that amyloid-status did not impact mortality rates, but is predictive of cognitive functioning over time across several domains. Also, we show particular validity for a negative amyloid-PET assessment, as these patients did not receive an AD diagnosis at follow-up.

CLINICAL VALUE OF ELECTIVE POSTOPERATIVE RADIOGRAPHS IN TOTAL JOINT REPLACEMENT

AbstractBackgroundPost operative radiographs following total joint arthroplasty are requested as part of routine follow up in many institutions. These studies have a significant cost to the local departments, in terms of financial and clinic resources, however, previous research has suggested they may not alter the course of the patients treatment. The purpose of this study was to assess the significance of elective post operative radiographs on changes in management of patients who underwent total joint arthroplasty.MethodAll patients who underwent total knee arthroplasty and total hip arthroplasty at a District General Hospital from 2019 to 2020 were included. Data was collected retrospectively from medical records and radiograph requests. Alterations to clinical management based on radiographic findings were reviewed in clinic letters.ResultsA total of 227 Total joint arthroplasty were retrieved. With 111(49%) total hip arthroplasty and 116 (51%) total knee arthroplasty. 54 were excluded due to having no clinical follow up and 173 met inclusion criteria. 56 (32%) had their post operative elective radiograph, while 93 (53.8%) patients had none. There were no abnormalities detected from the elective radiographs and none of the patients returned to the theatre. 24 patients (13%) presented with symptoms and had non-elective radiographs, 16 (67%) did not have any interventions and 8 (4.6%) required intervention and were taken to theatre. Discussion: Not performing these radiographs saves time, cost, and prevents unnecessary radiation exposure. In our institution, a 2-view joint radiograph costs £29 and takes roughly 15 minutes. This does not include indirect costs of additional clinic time and patient waiting time. In the larger context, the cost associated with elective radiographs is significant and our data suggests that routine post-operative radiographs are not beneficial as part of standard post-operative protocol for asymptomatic patients. However, performing imaging remains beneficial for patients who re-present with symptoms.ConclusionRoutine elective post-operative joint radiographs did not detect any true abnormalities. Information from elective radiographs has no clinical significance and did not change management. Therefore, this study recommends that there is no rationale requesting elective post-operative joint radiographs.Declaration of Interest(b) declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported:I declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution.

To evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for patients with NF type 1 (NF1) and schwannomatosis (SWN). This retrospective study reviewed patients with confirmed or suspected NF1 and SWN discussed in weekly MDC from March to July 2021. Demographic data collected included patient age, sex, pre-conference and post-conference diagnosis, radiological studies reviewed, and provider specialties in attendance. Outcomes reported included changes in imaging interpretation and treatment plans, changes in post-conference diagnosis relative to pre-conference diagnosis, and time to completion of the recommended change in treatment. Data from 17 MDC "pre-conference" lists included 75 patients (38 female, 37 males, mean age (years): 38 (range: 6-80)) with NF1 (52%, 39/75) and SWN (36%, 27/75) discussed over a total of 91 case reviews. 18.7% (14/75) of all patients had NF2-related SWN, and 17.3% (13/75) of all patients had non-NF2 SWN. The MDC led to changes in imaging interpretation in 18.7% and changes in patient management in 74.7% (diagnostic testing (n = 52), surgical plan (n = 24), medical treatment (n = 9), clinical trial status (n = 4), and radiation treatment (n = 1)) of cases. Among patients for whom a change in management was recorded, 91% (62/68) completed at least one recommendation (mean time to completion (days): 41.4 (range: 0-278)). Weekly MDC changes the diagnostic and therapeutic management of the majority of patients discussed (74.7%) and promotes a high adherence rate to recommendations (91%).

Validation and potential usefulness of the updated PROMISE minimal risk tool in patients with suspected coronary artery disease undergoing coronary CT angiography

Abstract Introduction The steady decline in test positivity among patients with suspected coronary artery disease (CAD) has raised interest in developing strategies to identify patients who may not require testing. The updated PROMISE minimal-risk tool (PMRT) was developed specifically for this purpose, but never tested in our population. The aim of this study was to assess the diagnostic performance of this new tool, and to compare it with the guideline-recommended pre-test probability (PTP) and with the risk factor-weighted clinical likelihood (RF-CL) model in a Portuguese cohort of symptomatic patients undergoing coronary computed tomography angiography (CCTA). Methods We conducted a two-centre cross-sectional study of symptomatic patients undergoing CCTA for suspected CAD. Key exclusion criteria were age &amp;lt;30 years, known CAD, suspected acute coronary syndrome or symptoms other than chest pain or dyspnoea. A simplified version of the updated PMRT (without HDL-C), the guideline PTP, and RF-CL score were calculated for each patient. Obstructive CAD was defined as any luminal stenosis ≥ 50% on CCTA. ‘Low risk’ was defined as absence of obstructive CAD and coronary artery calcium (CAC) score &amp;lt; 100 (both conditions present, where CCTA results are unlikely to change patient management). The cut-off value of the PMRT with 95% positive predictive value for identifying patients with ‘Low risk’ was identified in ROC curve analysis. Results A total of 2162 patients (mean age 60±11years, 59% female) were included. Overall, 14.9% (N=323) of patients had obstructive CAD, and 73.5% (N=1589) fulfilled the criteria for ‘Low risk’. Patients with ‘Low risk’ were more frequently female, had higher prevalence of non-anginal chest pain and had fewer cardiovascular risk factors. For obstructive CAD, the discriminative power of the updated PMRT was similar to the one provided by the guideline PTP and RF-CL models (Figure 1A). However, for identifying patients with ‘Low risk’, the updated PMRT showed greater discriminative power than the guideline PTP and RF-CL models (Figure1B). The PMRT cut-off value with 95% positive predictive value for detecting patients at "Low risk" was identified as &amp;gt;46%. A total of 458 patients (21.2%) had a PMRT &amp;gt;46%. Conclusion In this cohort of symptomatic patients undergoing CCTA, the updated PMRT showed similar discriminative power for obstructive CAD, but greater discriminative power to identify "Low risk" than the guideline-recommended PTP and the RF-CL models. The criterion that identified "Low Risk" with 95% positive predictive value was present in roughly one fifth of patients undergoing CCTA, who would derive less benefit from testing.

Use of multiplex PCR in pleural effusion: is it necessary to change the paradigm of culture-based methods?

The microbiological diagnosis of pleural effusion is based largely on classical microbiology methods, but these methods have a high rate of false negative results. Some previous studies have shown improved diagnostic performance for pathogens such as Streptococcus pneumoniae using molecular biology methods. We present the use of a multiplex PCR platform (BIOFIRE FILMARRAY Pneumonia Panel) for the aetiological diagnosis of pleural effusion in paediatric pneumonia. We present a case series of 17 pleural fluid samples that were processed by culture-based microbiology and molecular biology methods. Microbiological isolation was successful in four cases (25 %) through traditional culture methods. In contrast, the molecular biology panels allowed for detection in 16 out of 17 cases (94 %). The results from these panels led to a change in management for nine out of the 17 cases (52 %). This study found an increase in aetiological diagnosis in complicated pneumonia in children by using molecular biology methods, which led to a significant change in patient management.

Is Metagenomics the Future Routine Diagnosis Tool for Brain Abscesses? About a Case

Shotgun metagenomics (SMg) usefulness for brain abscess diagnosis is not known. We describe a case of brain abscess diagnosed with SMg and provide a review of the literature. A 70-year-old woman was diagnosed with multiple brain abscesses. Standard culture techniques and 16S rRNA gene sequencing of abscess samples remained negative. SMg finally revealed the presence of sequences from Streptococcus anginosus and Fusobacterium nucleatum, leading to antimicrobial treatment adaptation and corticosteroids initiation. The patient finally recovered. A literature review retrieved fifteen other cases of brain abscesses diagnosed with SMg. SMg results led to changes in patient management in most cases. The existing literature about the performances of SMg, its advantages, future evolutions, and limitations is then discussed. SMg place in routine should be evaluated and defined through prospective studies.

The journey of stage III and IV non-small cell lung cancer patients in the Brazilian private healthcare system: a retrospective study.

Non-small cell lung cancer (NSCLC) is still diagnosed at late stages in Brazil. The availability of newer treatment options has changed patient management, however, few real-world data have been published since then. This is a population-based retrospective cohort study that aims to evaluate the characteristics of stage III/IV NSCLC patients and their journey in the Brazilian private healthcare system. Patients aged ≥18 years, residing in Brazil who had their first medical appointment between 2016 and 2018 were included in the study. The sociodemographic and clinical characteristics of the patients and time intervals of interest were described. A total of 10,394 patients were analyzed. The majority of the patients were male (58.5%) with a median age of 64.0 (IQR = 58.0 - 71.0) years. In relation to characteristics of the disease, most of the tumors were characterized as adenocarcinomas (52.3%) and diagnosed at stage IV (72.2%). Most patients arrived at the hospital with an established NSCLC diagnosis, while 45.7% were diagnosed at the first medical appointment in the hospital or later. For patients who were diagnosed at the first medical appointment or later, a median interval of 15.0 (IQR = 6.0 - 33.0) days was observed between the first medical appointment and the diagnosis. The first treatment was given after a median of 25.0 (IQR = 6.0 - 49.0) days after diagnosis for patients without a prior diagnosis, and 57.0 (IQR: 33.0 - 98.0) days for patients with a prior diagnosis. The most common treatments were chemotherapy alone (33.8%), chemotherapy combined with radiotherapy (21.5%), radiotherapy alone (13.1%), adjuvant or neoadjuvant treatment (9.3%), surgery (3.3%), and immunotherapy (0.7%; alone or combined). At the end of follow-up (September, 2020), 52.3% of the patients had died. Despite having more treatment options in the private sector, data show that there is a need to improve access to technologies.