Characterizing radiology reports in patients with frontotemporal dementia.
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ABSTRACT:
SUBMITTER: Suarez J
PROVIDER: S-EPMC2754327 | biostudies-literature | 2009 Sep
REPOSITORIES: biostudies-literature
Publications
Characterizing radiology reports in patients with frontotemporal dementia.
Suárez J J Tartaglia M C MC Vitali P P Erbetta A A Neuhaus J J Laluz V V Miller B L BL
Neurology 20090901 13
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Project description:ImportanceMutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD.ObjectiveTo evaluate the exact contribution of SQSTM1 to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients.DesignA SQSTM1 mutation was first identified in a multiplex family with FTD by use of whole-exome sequencing. To evaluate the frequency of SQSTM1 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes.SettingPrimary care or referral center.ParticipantsAn overall cohort of 188 French patients, including 132 probands with FTD and 56 probands with FTD-ALS.Main outcomes and measuresFrequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes.ResultsWe identified 4 heterozygous missense mutations in 4 unrelated families with FTD; only 1 family had clinical symptoms of Paget disease of bone, and only 1 family had clinical symptoms of FTD-ALS, possibly owing to the low penetrance of some of the clinical manifestations.Conclusions and relevanceAlthough the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD.
| S-EPMC4199096 | biostudies-literature
Project description:Frontotemporal dementia (FTD) encompasses a spectrum of neurodegenerative diseases with heterogeneous clinical presentations and two predominant types of underlying neuropathology. FTD typically comprises three distinct clinical syndromes: behavioral variant frontotemporal dementia (bvFTD), semantic variant primary progressive aphasia (svPPA), and nonfluent variant primary progressive aphasia (nfvPPA). FTD also frequently overlaps both clinically and neuropathologically with three other neurodegenerative syndromes: corticobasal syndrome (CBS), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS). Each syndrome can be associated with one or more underlying neuropathological diagnoses and are referred to as frontotemporal lobar degeneration (FTLD). Although the various FTD syndromes can substantially differ in terms of clinical symptoms and underlying pathology, the symptoms can be broadly categorized into behavioral, cognitive and motor domains. Currently there are no Food and Drug Administration (FDA) approved therapies for the above syndromes except riluzole for ALS. FTD treatment strategies generally rely on off-label use of medications for symptomatic management, and most therapies lack quality evidence from randomized, placebo-controlled clinical trials. For behavioral symptoms, selective serotonin reuptake inhibitors may be effective, while case reports hint at possible efficacy with antipsychotics or anti-epileptics, but use of these latter agents is limited due to concerns regarding side effects. There are no effective therapies for cognitive complaints in FTD, which frequently involve executive function, memory, and language. Motor difficulties associated with FTD may present with parkinsonian symptoms or motor neuron disease, for which riluzole is indicated as therapy. Compared to idiopathic Parkinson's disease, FTD-related atypical parkinsonism is generally not responsive to dopamine replacement therapies, but a small percentage of patients may experience improvement with a trial of carbidopa-levodopa. Physical and occupational therapy remain an important corner stone of motor symptom management in FTD. Speech therapy may also help patients manage symptoms associated with aphasia, apraxia, and dysarthria. Recent advances in the understanding of FTLD pathophysiology and genetics have led to development of potentially disease-modifying therapies as well as symptomatic therapies aimed at ameliorating social and behavioral deficits.
| S-EPMC4920050 | biostudies-other
Project description:Frontotemporal dementia (FTD) is a not-uncommon explanation for progressive cognitive deficit in patients who often have a genetic susceptibility for such a neurodegenerative process. However, FTD does not seem to identify one particular pathogenetic mechanism but rather a spectrum of pathologies with particular predilection for the frontal and temporal lobes of the brain. There have been various subcategorizations of this form of dementia that have a tendency to be of earlier onset than typical Alzheimer disease and heralded by behavioral or communication manifestations. There is a behavioral variant and a language variant, referred to as primary progressive aphasia.
| S-EPMC5549462 | biostudies-literature
Project description:Frontotemporal dementia is an umbrella clinical term that encompasses a group of neurodegenerative diseases characterised by progressive deficits in behaviour, executive function, or language. Frontotemporal dementia is a common type of dementia, particularly in patients younger than 65 years. The disease can mimic many psychiatric disorders because of the prominent behavioural features. Various underlying neuropathological entities lead to the frontotemporal dementia clinical phenotype, all of which are characterised by the selective degeneration of the frontal and temporal cortices. Genetics is an important risk factor for frontotemporal dementia. Advances in clinical, imaging, and molecular characterisation have increased the accuracy of frontotemporal dementia diagnosis, thus allowing for the accurate differentiation of these syndromes from psychiatric disorders. As the understanding of the molecular basis for frontotemporal dementia improves, rational therapies are beginning to emerge.
| S-EPMC5970949 | biostudies-literature
Project description:Frontotemporal dementia (FTD) is a common young-onset dementia presenting with heterogeneous and distinct syndromes. It is characterized by progressive deficits in behavior, language, and executive function. The disease may exhibit similar characteristics to many psychiatric disorders owing to its prominent behavioral features. The concept of precision medicine has recently emerged, and it involves neurodegenerative disease treatment that is personalized to match an individual's specific pattern of neuroimaging, neuropathology, and genetic variability. In this paper, the pathophysiology underlying FTD, which is characterized by the selective degeneration of the frontal and temporal cortices, is reviewed. We also discuss recent advancements in FTD research from the perspectives of clinical, imaging, molecular characterizations, and treatment. This review focuses on the approach of precision medicine to manage the clinical and biological complexities of FTD.
| S-EPMC6393374 | biostudies-other
Project description:OBJECTIVES:To investigate the severity of subcortical atrophy in frontotemporal dementia (FTD) without extrapyramidal symptoms (EPS) and dementia with EPS. In addition, we aim to verify if there is correlation between demographic and clinical characteristics and subcortical atrophy in the groups. Methodology : The sample was composed of 21 patients with dementia and EPS as well as 19 patients with FTD without EPS. A linear assessment was conducted in order to identify the degree of subcortical atrophy (i.e., bifrontal index - BFI) using MRI. Moreover, the Mini-Mental State Examination (MMSE), Pfeffer Functional Activities Questionnaire (FAQ) and the Clinical Dementia Rating (CDR) were used to investigate clinical aspects. Results : It was verified that patients with dementia and EPS was older than the patients with FTD (p=0.01). The severity of cognitive deficits was associated with BFI, as well as the dementia severity in the EPS group. Conclusion : FTD group presented mean BFI scores above the cutoff for normal elderly population, indicating the presence of subcortical atrophy in this group. Mean BFI was higher (although not statistically significant) in FTD group than in dementia with EPS, which can suggest at least that subcortical pathology in FTD may be as important as in the dementia with EPS group. Subcortical atrophy is a good biological marker for cognitive deterioration in FTD and in dementia with EPS.
| S-EPMC4391205 | biostudies-other
Project description:Traditional radiology reports are narrative texts that include a description of imaging findings. Recent implementation of advanced reporting software allows for incorporation of annotated key images and hyperlinks directly into text reports, but these tools usually do not substitute in-person consultations with radiologists, especially in challenging cases. Use of on-demand audio/visual reports with screen capture software is an emerging technology, providing a more engaged imaging service. Our study evaluates a video reporting tool that utilizes PACS integrated screen capture software for musculoskeletal imaging studies in the emergency department. Our hypothesis is that referring orthopedic surgeons would find that recorded audio/video reports add value to conventional reports, may increase engagement with radiology staff, and also facilitate understanding of imaging findings from urgent musculoskeletal cases. Seven radiologists prepared a total of 47 audiovisual reports for 9 attending orthopedic surgeons from the emergency department. We applied two surveys to evaluate the experience of the referring physicians using audio/visual reports as a complementary material from the conventional text report. Positive responses were statistically significant in most questions including: if the clinical suspicion was answered in the video; willingness to use such technology in other cases; if the audiovisual report made the imaging findings more understandable than the traditional report; and if the audiovisual report is faster to understand than the traditional text report. Use of audiovisual reports in emergency musculoskeletal cases is a new approach to evaluate potentially challenging cases. These results support the potential of this technology to re-establish the radiologist's role as an essential member of patient care and also provide more engaging, precise, and personalized reports. Further studies could streamline these methods in order to minimize work redundancy with traditional text reporting or even evaluate acceptance of using only audiovisual radiology reports. Additionally, widespread adoption would require integration with the entire radiology workflow including non-urgent cases and other medical specialties.
| S-EPMC6841833 | biostudies-literature
Project description:Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous disorder. To which extent genetic aberrations dictate clinical presentation remains elusive. We investigated the spectrum of genetic causes and assessed the genotype-driven differences in biomarker profiles, disease severity and clinical manifestation by recruiting 509 FTD patients from different centers of the German FTLD consortium where individuals were clinically assessed including biomarker analysis. Exome sequencing as well as C9orf72 repeat analysis were performed in all patients. These genetic analyses resulted in a diagnostic yield of 18.1%. Pathogenic variants in C9orf72 (n = 47), GRN (n = 26), MAPT (n = 11), TBK1 (n = 5), FUS (n = 1), TARDBP (n = 1), and CTSF (n = 1) were identified across all clinical subtypes of FTD. TBK1-associated FTD was frequent accounting for 5.4% of solved cases. Detection of a homozygous missense variant verified CTSF as an FTD gene. ABCA7 was identified as a candidate gene for monogenic FTD. The distribution of APOE alleles did not differ significantly between FTD patients and the average population. Male sex was weakly associated with clinical manifestation of the behavioral variant of FTD. Age of onset was lowest in MAPT patients. Further, high CSF neurofilament light chain levels were found to be related to GRN-associated FTD. Our study provides large-scale retrospective clinico-genetic data such as on disease manifestation and progression of FTD. These data will be relevant for counseling patients and their families.
| S-EPMC8758482 | biostudies-literature
Project description:BackgroundThe purpose of this study was to assess the effectiveness of an Artificial Intelligence-Large Language Model (AI-LLM) at improving the readability of hand and wrist radiology reports.MethodsThe radiology reports of 100 hand and/or wrist radiographs, 100 hand and/or wrist computed tomography (CT) scans, and 100 hand and/or wrist magnetic resonance imaging (MRI) scans were extracted. The following prompt command was inserted into the AI-LLM: "Explain this radiology report to a patient in layman's terms in the second person: [Report Text]." The report length, Flesch reading ease score (FRES), and Flesch-Kincaid reading level (FKRL) were calculated for the original radiology report and the AI-LLM-generated report. The accuracy of the AI-LLM report was assessed via a 5-point Likert scale. Any "hallucination" produced by the AI-LLM-generated report was recorded.ResultsThere was a statistically significant improvement in mean FRES scores and FKRL scores in the AI-LLM-generated radiograph report, CT report, and MRI report. For all AI-LLM-generated reports, the mean reading level improved to below an eighth-grade reading level. The mean Likert score for the AI-LLM-generated radiograph report, CT report, and MRI report was 4.1 ± 0.6, 3.9 ± 0.6, and 3.9 ± 0.7, respectively. The hallucination rate in the AI-LLM-generated radiograph report, CT report, and MRI report was 3%, 6%, and 6%, respectively.ConclusionsThis study demonstrates that AI-LLM effectively improves the readability of hand and wrist radiology reports, underscoring the potential application of AI-LLM as a promising and innovative patient-centric strategy to improve patient comprehension of their imaging reports.Level of Evidence: IV.
| S-EPMC11574816 | biostudies-literature