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1.
Orphanet J Rare Dis ; 19(1): 227, 2024 Jun 07.
Article in English | MEDLINE | ID: mdl-38849913

ABSTRACT

BACKGROUND: Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role of arterial tortuosity in non-atherosclerotic vascular diseases remain to be fully elucidated. This study aimed to assess arterial tortuosity index (ATI) in patients with non-atherosclerotic vascular diseases and the associated factors. METHODS: This is a retrospective analysis of patients with non-atherosclerotic vascular diseases referred to the Malformation and Rare Vascular Disease Center at the University Hospital in Lausanne (Switzerland). Computed tomography angiography (CTA) images performed between October 2010 and April 2022 were retrieved and the aortic tortuosity index (ATI) was calculated. Patients were classified based on diagnosis into the following groups: arterial dissection & aneurysm, arteritis & autoimmune disease, hereditary connective tissue diseases, and fibromuscular dysplasia (FMD). Univariate and multivariate logistic regression analysis was used to determine potentially relevant predictors of aortic tortuosity. RESULTS: The mean age upon computed tomography angiography (CTA) was 46.8 (standard deviation [SD] 14.6) years and 59.1% of the patients were female. Mean ATI was higher in patients over 60 years old (1.27), in those with arterial aneurysms (mean: 1.11), and in those diagnosed with hypertension (mean: 1.13). When only patients over 60 years old were considered, those diagnosed with connective tissue diseases had the highest ATI. At multivariate regression analysis, increasing age (p < 0.05), presence of arterial aneurysms (p < 0.05), and hypertension (p < 0.05) were independently associated with ATI. CONCLUSIONS: The ATI may be a promising tool in diagnostic evaluation, cardiovascular risk stratification, medical or surgical management, and prognostic assessment in several non-atherosclerotic vascular conditions. Further studies with longitudinal design and larger cohorts are needed to validate the role of ATI in the full spectrum of vascular diseases.


Subject(s)
Aneurysm , Computed Tomography Angiography , Hypertension , Humans , Female , Male , Middle Aged , Retrospective Studies , Adult , Hypertension/complications , Aneurysm/pathology , Aneurysm/diagnostic imaging , Vascular Diseases/pathology , Vascular Diseases/diagnostic imaging , Aged , Arteries/pathology , Arteries/diagnostic imaging , Age Factors
2.
ACR Open Rheumatol ; 6(6): 388-395, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38576187

ABSTRACT

OBJECTIVE: Automated machine learning (autoML) platforms allow health care professionals to play an active role in the development of machine learning (ML) algorithms according to scientific or clinical needs. The aim of this study was to develop and evaluate such a model for automated detection and grading of distal hand osteoarthritis (OA). METHODS: A total of 13,690 hand radiographs from 2,863 patients within the Swiss Cohort of Quality Management (SCQM) and an external control data set of 346 non-SCQM patients were collected and scored for distal interphalangeal OA (DIP-OA) using the modified Kellgren/Lawrence (K/L) score. Giotto (Learn to Forecast [L2F]) was used as an autoML platform for training two convolutional neural networks for DIP joint extraction and subsequent classification according to the K/L scores. A total of 48,892 DIP joints were extracted and then used to train the classification model. Heatmaps were generated independently of the platform. User experience of a web application as a provisional user interface was investigated by rheumatologists and radiologists. RESULTS: The sensitivity and specificity of this model for detecting DIP-OA were 79% and 86%, respectively. The accuracy for grading the correct K/L score was 75%, with a κ score of 0.76. The accuracy per DIP-OA class differed, with 86% for no OA (defined as K/L scores 0 and 1), 71% for a K/L score of 2, 46% for a K/L score of 3, and 67% for a K/L score of 4. Similar values were obtained in an independent external test set. Qualitative and quantitative user experience testing of the web application revealed a moderate to high demand for automated DIP-OA scoring among rheumatologists. Conversely, radiologists expressed a low demand, except for the use of heatmaps. CONCLUSION: AutoML platforms are an opportunity to develop clinical end-to-end ML algorithms. Here, automated radiographic DIP-OA detection is both feasible and usable, whereas grading among individual K/L scores (eg, for clinical trials) remains challenging.

3.
J Neurosurg Spine ; : 1-9, 2022 Jan 14.
Article in English | MEDLINE | ID: mdl-35171825

ABSTRACT

OBJECTIVE: The authors previously described the image merge tailored access resection (IMTAR) technique for resection of spinal intradural lesions (SIDLs). The authors reported their updated experience with the IMTAR technique and compared surgical results between patients who underwent operations with 2D or 3D fluoroscopic guidance. METHODS: The authors reviewed 60 patients who underwent SIDL resection with transtubular techniques over a 14-year period. The earlier patients in the series underwent operations with 2D fluoroscopic image guidance. The latter patients underwent operations with the IMTAR technique based on 3D image guidance. The results of both techniques were analyzed. RESULTS: Sixty patients were included: 27 females (45%) and 33 males (55%). The median (range) age was 50.5 (19-92) years. Gross-total resection (GTR) was achieved in 52 patients (86.7%). Subtotal resection was accomplished in 5 patients (8.3%). Neurological complications occurred in 3 patients (5%), and tumor recurrence occurred in 1 patient (1.7%). The non-IMTAR and IMTAR cohorts showed similar postoperative Nurick scale scores and rates of neurological complications and GTR. The median (interquartile range) bone resection surface area at the index level was 89.5 (51-147) mm2 in the non-IMTAR cohort and 35.5 (11-71) mm2 in the IMTAR cohort, with a statistically significant difference (p = 0.0112). CONCLUSIONS: Surgery for SIDLs may be challenging, and meticulous surgical planning is crucial to optimize tumor access, maximize resection, and minimize risk of complications. Image-guided transtubular resection is an additional surgical technique for SIDLs and facilitates microsurgical tumor removal of ventrally located lesions with a posterolateral approach, without requiring potentially destabilizing bone resection.

4.
Eur Radiol ; 30(5): 2583-2593, 2020 May.
Article in English | MEDLINE | ID: mdl-32020402

ABSTRACT

OBJECTIVE: To show that for the MRI workup of non-specific low back pain and/or lumbar radiculopathy, the acquisition of T1-weighted sequences in the sagittal plane could be waived when using an FSE T2-weighted Dixon sequence. MATERIALS AND METHODS: Three musculoskeletal radiologists retrospectively reviewed fifty lumbar spine MRI examinations performed for non-specific low back pain and/or lumbar radiculopathy. Two protocols were separately analyzed in the sagittal plane: a standard protocol (T1-weighted, in-phase, and water-only images of an FSE T2-weighted Dixon sequence) and a simplified protocol (fat-only, in-phase, and water-only images of an FSE T2-weighted Dixon sequence). Eight items usually assessed on T1-weighted sequences were analyzed for each of the vertebrae (n = 250), vertebral endplates (n = 500), vertebral corners (n = 1000), foramina (n = 500), lamina (n = 500), and facet joints (n = 500). Interchangeability of these protocols was tested using the individual equivalence index. A decrease in interobserver agreement of ≥ 5% when one reader used the simplified protocol compared with when both readers used the standard protocol was considered clinically significant. Interreader and intrareader agreement were assessed using kappa statistics. Rates of findings with each protocol were compared using odd ratios. RESULTS: The standard and simplified protocols were interchangeable (range of upper bound of the 95%CI of individual equivalence index = 0.25 to 1.38%). Intraprotocol and interprotocol interreader kappa values were similar (0.253-0.671 vs. 0.236-0.723, respectively). Rates of findings were not statistically significantly different (p ≥ 0.074), or were higher with the simplified protocol (p ≤ 0.036). CONCLUSION: In our target population, a single sagittal T2-weighted Dixon sequence may replace the recommended combination of T1-, T2-, and fat-suppressed T2-weighted sequences. KEY POINTS: • In patients with non-specific low back pain or lumbar radiculopathy, spine MRI in the sagittal plane could be limited to a single FSE T2-weighted Dixon sequence, hereby reducing the acquisition time. • A simplified protocol of spine MRI in the sagittal plane combining FSE T2-weighted Dixon sequence provides the same information as a standard protocol including T1-, T2-, and fat-suppressed T2-weighted sequences for the workup of degenerative lumbar spine lesions. • For some findings shown on the simplified protocol, such as focal bone marrow replacement lesions or signs of infection, additional sequences including pre- and post-contrast T1-weighted sequences may be required, as is currently the case when using the standard protocol.


Subject(s)
Low Back Pain/diagnosis , Lumbar Vertebrae/diagnostic imaging , Magnetic Resonance Imaging/methods , Radiculopathy/diagnosis , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Reproducibility of Results , Retrospective Studies , Young Adult
5.
Ann Thorac Surg ; 109(4): e279-e281, 2020 04.
Article in English | MEDLINE | ID: mdl-31473177

ABSTRACT

MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our familial case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.


Subject(s)
Aortic Aneurysm, Thoracic/genetics , Mutation, Missense , Myosin Heavy Chains/genetics , Aged , Humans , Male
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