Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access. To better evaluate the diagnostic yield and clinical utility of genetic testing in this population, we analyzed data from adults aged ≥50 years with CKD who were assessed in a specialized kidney genetics clinic. Methods: We studied a cohort of 125 adults with CKD aged ≥50 years at the time of genetic testing. Genetic testing included gene panels targeting disease-related genes based on clinical phenotype, and/or exome sequencing for additional monogenic causes if the initial panel testing was inconclusive. Results: Pathogenic variants in disease-related genes were identified in 38% of patients. The highest diagnostic yield (48%) was in patients aged 50-54 years. The most common diagnosis post-testing was glomerulopathies (32%). Clinical utility, shown through the case series, included modifications to treatment and clinical management, as well as a reduction in the diagnostic odyssey. Conclusions: Our findings from a dedicated Kidney Genetics Clinic show that genetic testing in adults ≥50 years with CKD has significant diagnostic and clinical utility. These results support guideline recommendations that there should be no upper age limit for genetic testing. Future research in unselected CKD populations is needed to establish the broader applicability and feasibility of genetic testing in older adults.
- MeSH
- Renal Insufficiency, Chronic * genetics diagnosis MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Testing * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Exome Sequencing MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Spektrum ; 150
Vydání druhé, v této úpravě první 254 stran : ilustrace ; 21 cm
Studie, která se zaměřuje na souvislost těla a osobnosti a duševních poruch a na somatickou psychoterapii. Určeno odborné veřejnosti.; Tato takřka klasická kniha je dodnes uznávaným dílem na poli psychoterapie zaměřené na práci s tělem. Autor ve svém integrativním pojetí čerpal z přístupů mnoha osobností jako Alexander Lowen, Moshe Feldenkrais, Stanley Keleman, Albert Pesso, John Pierrakos, Virginia Satir či Erving Polster, přičemž za zakladatele na tělo orientované psychoterapie považuje Wilhelma Reicha. Ve své knize tak autor seznamuje s nejefektivnějšími aspekty bioenergetiky, gestalt psychoterapie, Pesso Boyden psychomotorické terapie, reichiánské orgonomie a dalších směrů a v knize se zmiňuje o řadě praktických terapeutických technik. Autorův pohled je holistický a zkoumá rozmanité cesty od narušeného k přirozenému fungování osobnosti.
- MeSH
- Personality MeSH
- Psychophysiology MeSH
- Mind-Body Therapies MeSH
- Psychophysiologic Disorders MeSH
- Conspectus
- Fyzioterapie. Psychoterapie. Alternativní lékařství
- NML Fields
- psychoterapie
- NML Publication type
- studie
BACKGROUND AND OBJECTIVES: Individuals with acrophobia (fear of heights) can experience severe anxiety or panic attacks when they are located at height. This randomized controlled study aimed to verify the effects of a novel scalable virtual reality-based exposure (VR exposure) tool in individuals with acrophobia, by exposing them to a predefined set of situations they usually tend to avoid. METHODS: Forty-three adults were randomly assigned to one of the two groups: the experimental group or the waitlist group. Both groups attended initial short online education. The experimental group consecutively attended three VR-based exposure therapy (VRET) intervention sessions over 3-5 weeks during which the therapist encouraged participants to enter the predefined feared situations, while the control group on the waitlist had no additional intervention. RESULTS: The findings show that a 3-session VR exposure intervention with a standardized set of tasks effectively reduces the level of experienced height intolerance and particularly avoidance behavior compared to the control waitlist group limited to psychoeducation only. Results were maintained at the 2 months follow-up. The higher the sense of presence after the VR exposure was, the lower the avoidance level rated in the follow-up. LIMITATIONS: Our study has some limitations, such as potential sample selection bias and tracking of only medium-term effects in the 2-month follow-up. CONCLUSIONS: The findings show that three sessions of VR exposure intervention with a standardized set of VR-based scenarios are effective in reducing the level of height intolerance and associated avoidance behavior and led to improvement of the outcome measures two months after the procedure. The role of presence was implicated in the prolonged outcome of the VR exposure intervention.
- MeSH
- Adult MeSH
- Phobic Disorders * therapy psychology MeSH
- Implosive Therapy * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Follow-Up Studies MeSH
- Virtual Reality Exposure Therapy * methods MeSH
- Virtual Reality * MeSH
- Treatment Outcome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Randomized Controlled Trial MeSH
BACKGROUND: Management and treatment of severe aortic stenosis (AS) may differ considerably in European countries. To investigate these differences in France, Germany, and the UK, the IMPULSE enhanced registry was established. Previous data revealed differences in how patients were managed in specialist (hub) versus primary/secondary care (satellite) centres. METHODS: The IMPULSE enhanced registry sub-analysis aimed to determine if there were gender-specific differences for patients with severe AS at centres with and without access to intervention. RESULTS: Among the 790 patients, 594 and 196 were recruited at hub and satellite centres, respectively; 44 % of patients were female. In both settings, women were older than men (hubs: 78.7 vs. 76.2, p = 0.007; satellites: 79.8 vs. 75.1, p = 0.002). Symptoms at the presentation were comparable. Males had more often undergone previous cardiac surgery. Females had a smaller left ventricular (LV) outflow tract, smaller LV cavities, and, more often, a preserved ejection fraction (>50 %). There was no gender-based difference in time to intervention. At one year, the cumulative incidence of aortic valve replacement in females was higher than in males in hubs (p = 0.012) but not in satellites (p = 0.600); surgical AVR was more common in males in hubs only (p = 0.008), while transcatheter aortic valve implantation was more common in females in both settings (hubs: p < 0.001; satellites: p = 0.022). One-year survival was comparable in both genders, regardless of setting. CONCLUSIONS: A better understanding of gender-specific differences in patients with severe AS, according to the diagnostic setting, could improve patient stratification and earlier diagnosis.
- MeSH
- Aortic Valve Stenosis * epidemiology diagnosis therapy surgery MeSH
- Humans MeSH
- Disease Management * MeSH
- Follow-Up Studies MeSH
- Sex Characteristics * MeSH
- Primary Health Care * trends MeSH
- Registries * MeSH
- Secondary Care * trends MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Sex Factors MeSH
- Severity of Illness Index * MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Comparative Study MeSH
- Geographicals
- France MeSH
- Germany MeSH
- United Kingdom MeSH
OBJECTIVES: Annotating carious lesions on images is challenging. For artificial intelligence (AI) applications, the aggregation of heterogeneous multi-examiner annotations into one single annotation (e.g. via majority voting, MV) is usually needed. We assessed different aggregation strategies for multi-examiner annotations of primary proximal carious lesions on orthoradial radiographs and Near-Infrared Light Transillumination (NILT) images. METHODS: A total of 1007 proximal surfaces from 522 extracted posterior teeth were assessed by five dentists. Histological analysis provided the gold standard. Surfaces were classified as (1) sound, (2) enamel lesion or (3) dentin lesion. Four label aggregation strategies - MV, Weighted Majority Voting (WMV), Dawid-Skene (DS), and multi-annotator competence estimation (MACE) - were applied to unimodal (radiographs, NILT) and multimodal (combined) datasets. The area under the receiver operating characteristic curve (AUROC) was the primary outcome metric. RESULTS: According to the gold standard, 637 (63 %) surfaces were sound, 280 (28 %) showed carious lesions limited to the enamel, and 90 (9 %) showed lesions extending into the dentin. For radiographs, aggregation using MACE outperformed MV, WMV and DS significantly across all lesion depths (p < 0.002). For NILT, MACE significantly outperformed MV across all lesion depths (p < 0.001) and DS for enamel and dentin lesions (p ≤ 0.002). In the multimodal dataset, DS outperformed the other label aggregation strategies across all lesion depths significantly (p < 0.05). CONCLUSIONS: The commonly applied MV may be suboptimal. There is a need for informed application of specific aggregation strategies, depending on the dataset characteristics. CLINICAL SIGNIFICANCE: Most AI applications for dental image analysis are trained on a single annotation, usually resulting from aggregated multi-examiner annotations of each image. However, since these annotations are usually aggregated in an in vivo setting where no definitive ground truth is available, the choice of aggregation strategy plays a crucial role.
- MeSH
- Dentin pathology diagnostic imaging MeSH
- Humans MeSH
- Image Processing, Computer-Assisted * methods MeSH
- Radiography, Dental MeSH
- ROC Curve MeSH
- Transillumination MeSH
- Artificial Intelligence MeSH
- Dental Caries * diagnostic imaging pathology MeSH
- Dental Enamel diagnostic imaging pathology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Long-term outcomes following percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) might be changing because of improved techniques and better medical therapy. This final prespecified analysis of the Fractional Flow Reserve (FFR) versus Angiography for Multivessel Evaluation (FAME) 3 trial aimed to reassess their comparative effectiveness at 5 years. METHODS: FAME 3 was a multicentre, randomised trial comparing FFR-guided PCI using current-generation zotarolimus-eluting stents versus CABG in patients with three-vessel coronary artery disease not involving the left main coronary artery. 48 hospitals in Europe, USA and Canada, Australia, and Asia participated in the trial. Patients (aged ≥21 years with no cardiogenic shock, no recent ST segment elevation myocardial infarction, no severe left ventricular dysfunction, and no previous CABG) were randomly assigned to either PCI or CABG using a web-based system. At 1 year, FFR-guided PCI did not meet the prespecified threshold for non-inferiority for the outcome of death, stroke, myocardial infarction, or repeat revascularisation versus CABG. The primary endpoint for this intention-to-treat analysis was the 5-year incidence of the prespecified composite outcome of death, stroke, or myocardial infarction. The trial was registered at ClinicalTrials.gov, NCT02100722, and is completed; this is the final report. FINDINGS: Between Aug 25, 2014 and Nov 28, 2019, 757 of 1500 participants were assigned to PCI and 743 to CABG. 5-year follow-up was achieved in 724 (96%) patients assigned to PCI and 696 (94%) assigned to CABG. At 5 years, there was no significant difference in the composite of death, stroke, or myocardial infarction between the two groups, with 119 (16%) events in the PCI group and 101 (14%) in the CABG group (hazard ratio 1·16 [95% CI 0·89-1·52]; p=0·27). There were no differences in the rates of death (53 [7%] vs 51 [7%]; 0·99 [0·67-1·46]) or stroke (14 [2%] vs 21 [3%], 0·65 [0·33-1·28]), but myocardial infarction was higher in the PCI group than in the CABG group (60 [8%] vs 38 [5%], 1·57 [1·04-2·36]), as was repeat revascularisation (112 [16%] vs 55 [8%], 2·02 [1·46-2·79]). INTERPRETATION: At the 5-year follow-up, there was no significant difference in a composite outcome of death, stroke, or myocardial infarction after FFR-guided PCI versus CABG, although myocardial infarction and repeat revascularisation were higher with PCI. These results provide contemporary evidence to allow improved shared decision making between physicians and patients. FUNDING: Medtronic and Abbott Vascular.
- MeSH
- Fractional Flow Reserve, Myocardial * MeSH
- Myocardial Infarction epidemiology MeSH
- Coronary Angiography MeSH
- Percutaneous Coronary Intervention * methods MeSH
- Coronary Artery Bypass * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Follow-Up Studies MeSH
- Coronary Artery Disease * surgery mortality MeSH
- Aged MeSH
- Sirolimus analogs & derivatives administration & dosage MeSH
- Drug-Eluting Stents MeSH
- Treatment Outcome MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Randomized Controlled Trial MeSH
- Comparative Study MeSH