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We examined obstructive and nonobstructive plaque volumes in populations with subclinical and clinically manifested coronary artery disease (CAD) using quantitative computed tomography (QCT). 855 participants with CAD (274 asymptomatic individuals, 254 acute chest pain patients without acute coronary syndrome (ACS), and 327 patients with ACS) underwent QCT of proximal coronary segments to assess participant-level plaque volumes of dense calcium, fibrous, fibrofatty, and necrotic core tissue. Nonobstructive (<50% stenosis) plaque volumes were greater than obstructive plaque volumes, irrespective of population (all p <0.0001): Asymptomatic individuals (mean (95% CI)): 218 [190-250] vs. 16 [12-22] mm3; acute chest pain patients without ACS: 300 [263-341] vs. 51 [41-62] mm3; patients with ACS: 370 [332-412] vs. 159 [139-182] mm3. After multivariable adjustment, nonobstructive fibrous and fibrofatty tissue volumes were greater in acute chest pain patients without ACS compared to asymptomatic individuals (fibrous tissue: 122 [107-139] vs. 175 [155-197] mm3, p <0.01; fibrofatty tissue: 44 [38-50] vs. 71 [63-80] mm3, p <0.01. Necrotic core tissue was greater in ACS patients (29 [26-33] mm3) compared to both asymptomatic individuals (15 [13-18] mm3, p <0.0001) and acute chest pain patients without ACS (21 [18-24] mm3, p <0.05). Nonobstructive dense calcium volumes did not differ between the three populations: 29 [24-36], 29 [23-35], and 41 [34-48] mm3, p >0.3 respectively. Nonobstructive CAD was the predominant contributor to total atherosclerotic plaque volume in both subclinical and clinically manifested CAD. Nonobstructive fibrous, fibrofatty and necrotic core tissue volumes increased with worsening clinical presentation, while nonobstructive dense calcium tissue volumes did not. [ABSTRACT FROM AUTHOR]

Background: Adults with Down syndrome (DS) are at risk for age-related painful physical conditions, but also for under-reporting pain. Pictograms may facilitate self-report of pain, because they seem suitable for the global visual processing in DS and for iconic representation of abstract concepts. Method: Participants (N = 39, M age = 41.2) assigned pain qualities to pictograms, rated pain affect levels in facial scales (pictograms vs. drawn faces), and performed cognitive tests. Results: Recognition of all intended pain qualities was above chance level. Pain affect levels of both facial scales were ordered equally well. Both facial scales were preferred equally well. Comprehension of the 3 scales was positively associated with mental age, receptive language ability, and verbal memory. Most participants (74%) had pictograms in their direct environment, mainly to communicate activities or objects. Conclusion: Using pictograms may optimise communication about pain for a subgroup of cognitively higher functioning adults with DS.

Introduction: People with intellectual disabilities (ID) are at increased risk for developing Post Traumatic Stress Disorder (PTSD). Emerging evidence indicates that Eye Movement Desensitization and Reprocessing (EMDR) therapy is feasible and potentially effective for this group. However, communication, cognition, stress regulation, and attachment difficulties may interfere with the EMDR process. Adaptation of the EMDR protocol seems therefore required for this population. Aim: This review aims to systematically identify and categorize the difficulties in applying EMDR to people with ID and the adaptations made by therapists to overcome these challenges. Methods: A literature search was performed in May 2023. Article selection was based on inclusion and exclusion criteria and quality appraisal. Results: After screening, 13 articles remained for further review. The identified difficulties and adaptations were categorized into the three domains of adaptive functioning (i.e., conceptual, social, and practical functioning). Considerable difficulties in applying the EMDR protocol for this group were reported. The adaptations made by therapists to overcome these difficulties were highly variable. They could be divided into three main categories: adaptions in EMDR delivery (e.g., tuning to the developmental level of the client, simplifying language, decreasing pace), involvement of others (e.g., involving family or support staff during or in between sessions), and the therapeutic relationship (e.g., taking more time, supportive attitude). Discussion: The variability of the number of mentioned difficulties and adaptations per study seems to be partly related to the specific EMDR protocol that was used. In particular, when the Shapiro adult protocol was administered, relatively more detailed difficulties and adaptations were described than in publications based on derived existing versions of an EMDR protocol for children and adolescents. A probable explanation is that already embedded modifications in these protocols facilitate the needed attunement to the client's level of functioning. Practical implications: The authors of this review suggest that EMDR protocols for children and adolescents could be adapted for people with an intellectual disability. Further research should focus on the involvement of trusted others in EMDR therapy for people with ID and the therapeutic relationship from an attachment and relational-based perspective. [ABSTRACT FROM AUTHOR]

Aims Assessment of haemodynamically significant coronary artery disease (CAD) using cardiovascular magnetic resonance (CMR) imaging perfusion or dynamic stress myocardial perfusion imaging by computed tomography (CT perfusion) may aid patient selection for invasive coronary angiography (ICA). We evaluated the diagnostic performance and incremental value of qualitative CMR perfusion and quantitative CT perfusion complementary to cardiac computed tomography angiography (CCTA) for the diagnosis of haemodynamically significant CAD using fractional flow reserve (FFR) and quantitative coronary angiography (QCA) as reference standard. Methods and results CCTA, qualitative visual CMR perfusion, visual CT perfusion, and quantitative relative myocardial blood flow (CT-MBF) were performed in patients with stable angina pectoris. FFR was measured in coronary vessels with stenosis visually estimated between 30% and 90% diameter reduction on ICA. Haemodynamically significant CAD was defined as FFR <0.80, or QCA ≥80% in those cases where FFR could not be performed. A total of 218 vessels from 93 patients were assessed. An optimal cut-off of 0.72 for relative CT-MBF was determined. The diagnostic performances (area under the receiver-operating characteristics curves, 95% CI) of visual CMR perfusion (0.84, 0.77–0.90) and relative CT-MBF (0.86, 0.81–0.92) were comparable and outperformed visual CT perfusion (0.64, 0.57–0.71). In combination with CCTA ≥50%, CCTA + visual CMR perfusion (0.91, 0.86–0.96), CCTA + relative CT-MBF (0.92, 0.88–0.96), and CCTA + visual CT perfusion (0.82, 0.75–0.90) improved discrimination compared with CCTA alone (all P  <   0.05). Conclusion Visual CMR perfusion and relative CT-MBF outperformed visual CT perfusion and provided incremental discrimination compared with CCTA alone for the diagnosis of haemodynamically significant CAD. [ABSTRACT FROM AUTHOR]

Abstract Double aneuploidy mosaicism of two different aneuploidy cell lines is rare. We describe for the first time a double trisomy mosaicism, involving chromosomes 7 and 13 in a fetus presenting with multiple congenital anomalies. No evidence for chimerism was found by DNA genotyping. The origin of both trisomies are consistent with isodisomy of maternal origin. Therefore, it is most likely that the double trisomy mosaicism arose from two independent events very early in embryonic development. The trisomy 7 and 13 cells were shown to be of maternal origin.

Objective: To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin.Methods: We performed a retrospective multicenter cohort study that included all triploid pregnancies diagnosed between 2000 and 2018 in two Fetal Medicine Units in Amsterdam. Fetal growth, presence of structural anomalies, extra-fetal anomalies, and maternal biochemical markers were retrieved. Asymmetrical intrauterine growth restriction was diagnosed when the head-to-abdominal circumference (HC/AC) ratio was >95th centile. Parental origin was analyzed via molecular genotyping in 46 cases (38.3%).Results: One hundred and twenty triploid pregnancies were identified, of which 86 cases (71.6%) were detected before 18 weeks of gestation. Triploidy of maternal origin was found in 32 cases (69.6%) and was associated with asymmetrical growth restriction, a thin placenta, and low pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin (β-hCG) levels. Triploidy of paternal origin was found in 14 cases (30.4%) and was associated with an increased nuchal translucency, placental molar changes, and a high free β-hCG. Prospective prediction of the parental origin of the triploidy was made in 30 of the 46 cases based on phenotypical ultrasound presentation, and it was correct in all cases.Conclusion: Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant. [ABSTRACT FROM AUTHOR]

Aims Quantitative computed tomography (QCT) allows assessment of morphological features of coronary atherosclerosis. We aimed to test the hypothesis that clinical patient presentation is associated with distinct morphological features of coronary atherosclerosis. Methods and results A total of 1652 participants, representing a spectrum of clinical risk profiles [787 asymptomatic individuals from the general population, 468 patients with acute chest pain without acute coronary syndrome (ACS), and 397 patients with acute chest pain and ACS], underwent multidetector computed tomography. Of these, 274 asymptomatic individuals, 254 patients with acute chest pain without ACS, and 327 patients with acute chest pain and ACS underwent QCT to assess coronary plaque volumes and proportions of dense calcium (DC), fibrous, fibro fatty (FF), and necrotic core (NC) tissue. Furthermore, the presence of vulnerable plaques, defined by plaque volume and tissue composition, was examined. Coronary plaque volume increased significantly with worsening clinical risk profile [geometric mean (95% confidence interval): 148 (129–166) mm3, 257 (224–295) mm3, and 407 (363–457) mm3, respectively, P  <   0.001]. Plaque composition differed significantly across cohorts, P  <   0.0001. The proportion of DC decreased, whereas FF and NC increased with worsening clinical risk profile (mean proportions DC: 33%, 23%, 23%; FF: 50%, 61%, 57%; and NC: 17%, 17%, 20%, respectively). Significant differences in plaque composition persisted after multivariable adjustment for age, gender, body surface area, hypertension, statin use at baseline, diabetes, smoking, family history of ischaemic heart disease, total plaque volume, and tube voltage, P  <   0.01. Conclusion Coronary atherosclerotic plaque volume and composition are strongly associated to clinical presentation. [ABSTRACT FROM AUTHOR]

Aims Accurate assessment of aortic dimensions can be achieved using contrast-enhanced computed tomography. The aim of this study was to define normal values and determinants of aortic dimensions throughout multiple key anatomical landmarks of the aorta in healthy individuals from the Copenhagen General Population Study. Methods and results The study group consisted of 902 healthy subjects selected from 3000 adults undergoing cardiovascular thoracic and abdominal computed tomography-angiography (CTA), where systematic measurements of aortic dimensions were performed retrospectively. Individuals included were without any of the following predefined cardiovascular risk factors: (i) self-reported angina pectoris; (ii) hypertension; (iii) hypercholesterolaemia; (iv) taking cardiovascular prescribed medication including diuretics, statins, or aspirin; (v) overweight (defined as body mass index ≥30 kg/m2); (vi) diabetes mellitus (self-reported or blood glucose >8 mmol/L); and (vii) chronic obstructive pulmonary disease. Maximal aortic diameters were measured at seven aortic regions: sinuses of Valsalva, sinotubular junction, ascending aorta, mid-descending aorta, abdominal aorta at the diaphragm, abdominal aorta at the coeliac trunk, and infrarenal abdominal aorta. Median age was 52 years, and 396 (40%) were men. Men had significantly larger aortic diameters at all levels compared with women (P  <   0.001). Multivariable analysis revealed that sex, age, and body surface area were associated with increasing aortic dimensions. Conclusion Normal values of maximal aortic dimensions at key aortic anatomical locations by contrast-enhanced CTA have been defined. Age, sex, and body surface area were significantly associated with these measures at all levels of aorta. Aortic dimensions follow an almost identical pattern throughout the vessel regardless of sex. [ABSTRACT FROM AUTHOR]

Purpose: Quantitative computed tomography (QCT) provides important prognostic information of coronary atherosclerosis. We investigated intraobserver and interobserver QCT reproducibility in asymptomatic individuals, patients with acute chest pain without acute coronary syndrome (ACS), and patients with acute chest pain and ACS. Methods: Fifty patients from each cohort, scanned between 01/02/2010-14/11/2013 and matched according to age and gender, were retrospectively assessed for inclusion. Patients with no coronary artery disease, previous coronary artery bypass graft surgery, and poor image quality were excluded. Coronary atherosclerosis was measured semi-automatically by 2 readers. Reproducibility of minimal lumen area (MLA), minimal lumen diameter (MLD), area stenosis, diameter stenosis, vessel remodeling, plaque eccentricity, plaque burden, and plaque volumes was assessed using concordance correlation coefficient (CCC), Bland-Altman, coefficient of variation, and Cohen’s kappa. Results: A total of 84 patients (63 matched) were included. Intraobserver and interobserver reproducibility estimates were acceptable for MLA (CCC = 0.94 and CCC = 0.91, respectively), MLD (CCC = 0.92 and CCC = 0.86, respectively), plaque burden (CCC = 0.86 and CCC = 0.80, respectively), and plaque volume (CCC = 0.97 and CCC = 0.95, respectively). QCT detected area and diameter stenosis ≥50%, positive remodeling, and eccentric plaque with moderate-good intraobserver and interobserver reproducibility (kappa: 0.64–0.66, 0.69–0.76, 0.46–0.48, and 0.41–0.62, respectively). Reproducibility of plaque composition decreased with decreasing plaque density (intraobserver and interobserver CCC for dense calcium (>0.99; 0.98), fibrotic (0.96; 0.93), fibro-fatty (0.95; 0.91), and necrotic core tissue (0.89; 0.84). Reproducibility generally decreased with worsening clinical risk profile. Conclusions: Semi-automated QCT of coronary plaque morphology is reproducible, albeit with some decline in reproducibility with worsening patient risk profile. [ABSTRACT FROM AUTHOR]

Objective. The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). Design, Setting, and Subjects. Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands. Methods. File-based medical information was evaluated. Self-reported presence and experience of pain were assessed during a test session, both in rest and after movement (affect with the facial affective scale [FAS], intensity with the numeric rating scale [NRS]). Neuropsychological tests for memory and executive functioning were used. Results. Participants with lower memory scores were more likely to report the presence of pain, while controlling for age, gender, physical conditions that may cause pain, language comprehension, and vocabulary (p = .030, 58.4% classification rate, N = 154). No statistically significant associations were found between executive functioning and self-reported presence of pain or between cognitive functioning and self-reported pain experience. Conclusions. Memory seems to be related to the self-reported presence of pain in adults with DS after explicit inquiry, although the clinical use of this model is yet limited. Therefore, further research is needed for insight into the role of cognitive processes in self-report (e.g., involving aspects such as acquiescence and repeated measurements) to evaluate whether neuropsychological examination could contribute to pain assessment in DS. [ABSTRACT FROM AUTHOR]

Objective. The aim was to examine whether the presence of pain (based on physical conditions and participants’ report) and self-reported pain experience in adults with Down syndrome (DS) differ from general population controls. Design. Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) and 142 age-matched controls (median age = 40.5 years, mean estimated IQ = 105.7) in the Netherlands. Methods. File-based medical information was evaluated. Self-reported presence and experience of pain were assessed in rest and after movement during a test session (affect with facial affective scale (FAS: 0.04–0.97), intensity assessed with numeric rating scale (NRS: 0–10). Results. Compared with controls, more DS participants had physical conditions that may cause pain and/or discomfort (p = .004, 50% vs 35%), but fewer DS participants reported pain during the test session (p = .003, 58% vs 73%). Of the participants who indicated pain and comprehended self-reporting scales (n = 198 FAS, n = 161 NRS), the DS group reported a higher pain affect and intensity than the controls (p < .001, FAS: 0.75–0.85 vs 0.50–0.59, NRS: 6.00–7.94 vs 2.00–3.73). Conclusions. Not all adults with DS and painful/discomforting physical conditions reported pain. Those who did indicated a higher pain experience than adults from the general population. Research into spontaneous self-report of pain, repeated pain assessment, and acute pain is needed in people with DS for more insight into pain experience and mismatches between self-report and medical information. [ABSTRACT FROM AUTHOR]

To evaluate the interobserver agreement of visual coronary plaque characteristics by 320-slice multidetector computed tomography (MDCT) in three populations with low, intermediate and high CAD prevalence and to identify determinants for the reproducible assessment of these plaque characteristics. 150 patients, 50 asymptomatic subjects from the general population (low CAD prevalence), 50 symptomatic non-acute coronary syndrome (non-ACS) patients (intermediate CAD prevalence), and 50 ACS patients (high CAD prevalence), matched according to age and gender, were retrospectively enrolled. All coronary segments were evaluated for overall image quality, evaluability, presence of CAD, coronary stenosis, plaque composition, plaque focality, and spotty calcification by four readers. Interobserver agreement was assessed using Fleiss' Kappa (κ) and intra-class correlation (ICC). Widely used clinical parameters (overall scan quality, presence of CAD, and determination of coronary stenosis) showed good agreement among the four readers, (ICC = 0.66, κ = 0.73, ICC = 0.74, respectively). When accounting for heart rate, body mass index, plaque location, and coronary stenosis above/below 50 %, interobserver agreement for plaque composition, presence of CAD, and coronary stenosis improved to either good or excellent, (κ = 0.61, κ = 0.81, ICC = 0.78, respectively). Spotty calcification was the least reproducible parameter investigated (κ = 0.33). Across subpopulations, reproducibility of coronary plaque characteristics generally decreased with increasing CAD prevalence except for plaque composition, (limits of agreement: ±2.03, ±1.96, ±1.79 for low, intermediate and high CAD prevalence, respectively). 320-slice MDCT can be used to assess coronary plaque characteristics, except for spotty calcification. Reproducibility estimates are influenced by heart rate, body size, plaque location, and degree of luminal stenosis. [ABSTRACT FROM AUTHOR]

Objective. The presence of apolipoprotein E (ApoE) ε4 allele might be related to higher pain experience due to increased risk for potentially painful physical conditions and cognitive impairment (less efficient coping with pain). This hypothesis is clinically relevant to examine in adults with Down syndrome (DS) because they are at risk for painful physical conditions, their presence of ApoE ε4 is related to cognitive impairment, and their pain experience is unclear. The present pilot study addressed the associations between ApoE genotype, cognition, and pain in DS. Method. DNA analysis of saliva, neuropsychological tests (assessing memory and executive functioning), and self-reporting pain scales (in rest and aftermovement) were used with a cross-sectional design in 146 adults withDS(mean age 39.1 years, mild to moderate intellectual disabilities, 46% men, 30% ApoE ε4 carrier). Results. The difference between ApoE ε4 carriers and noncarriers was not statistically significant for cognitive function, pain experience, and prevalence of potentially painful conditions. Among ε4 carriers, the presence of potentially painful conditions was associated with worse executive functioning (p = .022, r = .39). Conclusions. The clinical implication of the results is that ApoE ε4 in DS may play a role in pain, although the theoretical explanation via associations with pain experience and cognition remains unclear. Further research should include a large sample of adults with DS selected on diagnosed painful conditions to obtain more insight into the possible role of ApoE genotype (and its association with cognition) in the pain experience of this target group. [ABSTRACT FROM AUTHOR]

Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2) gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations) and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources), so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1-q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare) developmental disorders with genetically proven etiology, a detailed inventory of anamnestic data and description of symptomatology over time may elucidate epilepsy-related psychopathology for which a specific treatment regimen is needed. [ABSTRACT FROM AUTHOR]