Going Beyond The Final Impression With Radiologic Data In The Era Of Clerical Medicine: A Case Report Of Coronary Artery Disease Found Incidentally On Computed Tomography

Introduction: Given the challenges in modern healthcare, physicians find themselves devoting a great deal of mental and emotional energy into executing the appropriate care for patients as well as performing their daily clerical duties. Many clinicians have resorted to innovative ways to minimize their tasks which often leads to narrowing the focus of a patient’s overall care and the birth of medical errors described in the Swiss cheese effect model. Case Description: A 66 year old male established care with a new primary care physician. Previous radiologic data revealed a pulmonary nodule that did not have appropriate follow up imaging. Repeat imaging showed a stable nodule in the final impression of the report. In the details of the report, coronary artery disease was noted, but it was not mentioned in the conclusion of the report. Patient was referred to cardiology for risk stratification and assessment, and he was found to have multi-vessel coronary artery disease requiring immediate coronary artery bypass grafting. Conclusion: There is a demand for physicians to be efficient and productive in the face of an ever growing difficult healthcare culture. This creates a medium in which approach to patient care could be dangerously narrowed. This case illustrates that a final impression of a radiologic report should not be the only item read. A physician’s standard approach should be to look at the report as a whole to appropriately treat diagnosed and previously undiagnosed pathologies in order to decrease patient morbidity and mortality

Going Beyond The Final Impression With Radiologic Data In The Era Of Clerical Medicine: A Case Report Of Coronary Artery Disease Found Incidentally On Computed Tomography

Introduction: Given the challenges in modern healthcare, physicians find themselves devoting a great deal of mental and emotional energy into executing the appropriate care for patients as well as performing their daily clerical duties. Many clinicians have resorted to innovative ways to minimize their tasks which often leads to narrowing the focus of a patient’s overall care and the birth of medical errors described in the Swiss cheese effect model. Case Description: A 66 year old male established care with a new primary care physician. Previous radiologic data revealed a pulmonary nodule that did not have appropriate follow up imaging. Repeat imaging showed a stable nodule in the final impression of the report. In the details of the report, coronary artery disease was noted, but it was not mentioned in the conclusion of the report. Patient was referred to cardiology for risk stratification and assessment, and he was found to have multi-vessel coronary artery disease requiring immediate coronary artery bypass grafting. Conclusion: There is a demand for physicians to be efficient and productive in the face of an ever growing difficult healthcare culture. This creates a medium in which approach to patient care could be dangerously narrowed. This case illustrates that a final impression of a radiologic report should not be the only item read. A physician’s standard approach should be to look at the report as a whole to appropriately treat diagnosed and previously undiagnosed pathologies in order to decrease patient morbidity and mortality

An unusual case of Escherichia coli meningitis and bacteremia in an elderly woman presenting with intractable low back pain

Abstract Introduction: We report an unusual case of E. coli meningitis in an elderly woman who presented to the emergency room with a chief complaint of intractable low back pain. Case Description: A 67 year old woman presented to the emergency room for a chief complaint of intractable low back pain. After admission, the patient developed delirium. Blood cultures were drawn. Patient underwent a lumbar puncture which revealed purulent cerebrospinal fluid. Results of the cerebrospinal fluid and blood cultures revealed pan-sensitive E. coli. Conclusion: In the geriatric population, delayed presentation of meningitis can occur for various reasons. With the older adult population, existing co-morbidities and decline in immunologic function can mask symptoms. Clinicians caring for the elderly population need to have a high index of suspicion in the setting of subtle symptoms when it comes to diagnosing acute bacterial meningitis. Key Words: bacteremia, meningitis, geriatric, E. Coli, clinical, cerebrospinal, cultures, deliriu

Baylisascaris Procyonis Exposure Case Study

We report a case of exposure to raccoon feces found to be contaminated with baylisascaris procyonis. The exposure was recognized early enough by the family to allow prophylaxis with albendazole. Because of the potential fatal or neurologically catastrophic effects of this disease immediate treatment is indicated. This is started in advance of environmental studies that are done to determine if the feces is indeed contaminated

An unusual case of Escherichia coli meningitis and bacteremia in an elderly woman presenting with intractable low back pain

Introduction: We report an unusual case of E. coli meningitis in an elderly woman who presented to the emergency room with a chief complaint of intractable low back pain. Case Description: A 67 year old woman presented to the emergency room for a chief complaint of intractable low back pain. After admission, the patient developed delirium. Blood cultures were drawn. Patient underwent a lumbar puncture which revealed purulent cerebrospinal fluid. Results of the cerebrospinal fluid and blood cultures revealed pan-sensitive E. coli. Conclusion: In the geriatric population, delayed presentation of meningitis can occur for various reasons. With the older adult population, existing co-morbidities and decline in immunologic function can mask symptoms. Clinicians caring for the elderly population need to have a high index of suspicion in the setting of subtle symptoms when it comes to diagnosing acute bacterial meningitis

Racial differences in systemic sclerosis disease presentation: a European Scleroderma Trials and Research group study

Objectives. Racial factors play a significant role in SSc. We evaluated differences in SSc presentations between white patients (WP), Asian patients (AP) and black patients (BP) and analysed the effects of geographical locations.Methods. SSc characteristics of patients from the EUSTAR cohort were cross-sectionally compared across racial groups using survival and multiple logistic regression analyses.Results. The study included 9162 WP, 341 AP and 181 BP. AP developed the first non-RP feature faster than WP but slower than BP. AP were less frequently anti-centromere (ACA; odds ratio (OR) = 0.4, P < 0.001) and more frequently anti-topoisomerase-I autoantibodies (ATA) positive (OR = 1.2, P = 0.068), while BP were less likely to be ACA and ATA positive than were WP [OR(ACA) = 0.3, P < 0.001; OR(ATA) = 0.5, P = 0.020]. AP had less often (OR = 0.7, P = 0.06) and BP more often (OR = 2.7, P < 0.001) diffuse skin involvement than had WP.AP and BP were more likely to have pulmonary hypertension [OR(AP) = 2.6, P < 0.001; OR(BP) = 2.7, P = 0.03 vs WP] and a reduced forced vital capacity [OR(AP) = 2.5, P < 0.001; OR(BP) = 2.4, P < 0.004] than were WP. AP more often had an impaired diffusing capacity of the lung than had BP and WP [OR(AP vs BP) = 1.9, P = 0.038; OR(AP vs WP) = 2.4, P < 0.001]. After RP onset, AP and BP had a higher hazard to die than had WP [hazard ratio (HR) (AP) = 1.6, P = 0.011; HR(BP) = 2.1, P < 0.001].Conclusion. Compared with WP, and mostly independent of geographical location, AP have a faster and earlier disease onset with high prevalences of ATA, pulmonary hypertension and forced vital capacity impairment and higher mortality. BP had the fastest disease onset, a high prevalence of diffuse skin involvement and nominally the highest mortality

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling. We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors. Scube3−/− mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder. Our findings identify a human disease caused by defective function of a member of the SCUBE family, and link SCUBE3 to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling

Droit naturel : relancer l'histoire

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose 47000 years ago. A wide age-range of patients (6-83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 +/- 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses