IntroductionThe cardiovascular benefits of physical exercise are well-known. However, vigorous exercise has also been associated with adverse cardiac effects. To improve our understanding of ...cardiovascular adaptation to exercise versus maladaptation and pathology, the limits of adaptation should be firmly established using state-of-the-art diagnostic modalities. We therefore initiated the Evaluation of Lifetime participation in Intensive Top-level sports and Exercise (ELITE) cohort to investigate the longitudinal (beneficial and pathological) cardiovascular effects of intensive elite sports and exercise.Methods and analysisELITE is a prospective, multicentre, longitudinal cohort study. Elite athletes, from the age of sixteen, are recruited in The Netherlands. The primary objective is to determine the association between elite sports and exercise-induced cardiac remodelling, cardiac pathology, and health benefits over time. Secondary objectives include determining and identifying genetic profiles of elite athletes, and how these are associated with cardiac indices. ELITE will collect data from consultations, electrocardiography, echocardiography and cardiac magnetic resonance imaging, and training- and injury data. ELITE will also collect blood for biobanking and cardiogenetics. Follow-up will take place at intervals of two to five years, and after the elite athletes’ professional careers have ended. In addition, a subcohort of ELITE has been established to investigate cardiac sequelae following infections associated with myocardial involvement, including SARS-CoV-2. ELITE is a prospective observational study; therefore, analyses will be primarily explorative.Ethics and disseminationThis study has been approved by the Medical Ethics Review Board of the Amsterdam University Medical Centers (NL71682.018.19). The results of the study will be disseminated by publication in peer-reviewed journals (Netherlands Trial Register number: NL9328).
A novel Chlamydia trachomatis (Ct) microsphere suspension (MS) assay was evaluated for identification of the different serovars, using the same PCR primer set established for the Ct Detection and ...genoTyping assay. Both assays can detect and identify all 14 major serovars (A, B/Ba, C, D/Da, E, F, G/Ga, H, I/Ia, J, K, L1, L2/L2a, and L3) and one genovariant of serovar J. The probe specificity for the Ct-MS assay was determined using 14 Ct reference strains and 1 clinical isolate from a genovariant of serovar J. Also, the Ct-MS assay and the Ct detection and genoTyping assay were compared in 712 Ct-positive clinical samples. The Ct-MS assay showed a highly specific reaction for all probes with the amplicons of the reference strains, giving a very low background median fluorescence intensity signal (median fluorescence intensity ≤ 10). An excellent overall agreement in the Ct detection (kappa = 0.947, 95% confidence interval, 0.89 to 0.999; McNemar's test, P = 1.000) and the Ct genotyping (kappa = 0.993, 95% confidence interval, 0.977 to 1.000; McNemar's test, P = 0.053) was observed between the Ct detection and genoTyping (DT) assay and the Ct-MS assay. In conclusion, the novel Ct-MS assay permits simultaneous detection and genotyping of Ct serovars, making the Ct-MS assay an excellent high throughput method.
The primary aim was to predict upper airway collapse sites found in drug-induced sleep endoscopy (DISE) from demographic, anthropometric, clinical examination, sleep study, and snoring sound ...parameters in obstructive sleep apnea (OSA) patients. The secondary aim was to identify the above-mentioned parameters that are associated with complete concentric collapse of the soft palate (CCCp).
All OSA patients who underwent DISE and simultaneous snoring sound recording were enrolled in this study. Demographic, anthropometric, clinical examination (viz., modified Mallampati classification and Friedman tonsil classification), and sleep study parameters were extracted from the polysomnography (PSG) report and DISE report. Snoring sound parameters during DISE were calculated.
One hundred and nineteen OSA patients (79.8% men; age = 48.1 ± 12.4 yrs) were included. Increased body mass index (BMI) was found to be associated with higher probability of oropharyngeal collapse (
< 0.01; OR = 1.29). Patients with a high Friedman tonsil score were less likely to have tongue base collapse (
< 0.01; OR = 0.12) and epiglottic collapse (
= 0.01; OR = 0.20) than those with a low score. A longer duration of snoring events (
= 0.05; OR = 2.99) was associated with a higher probability of CCCp.
Within the current patient profile and approach, given that only a limited number of predictors were identified, it does not seem feasible to predict upper airway collapse sites found in DISE from demographic, anthropometric, clinical examination, sleep study, and snoring sound parameters in OSA patients.
Sand-storage dams are a successful water harvesting technology in Kenya and a promising solution to ensure water and food security in other semi-arid regions. Assessing the suitability of ...sand-storage dams for other semi-arid regions requires both a good understanding of the hydrological factors for success of a single dam and the regional effects of a network of dams. Results from a measurement campaign on hydrological processes in the surroundings of a single dam in the Kitui District in Kenya indicated that groundwater levels increase quickly after precipitation. Recession of groundwater levels during the dry season following the rains was more gradual. Based on these results, a groundwater model for a single sand-storage storage dam was developed. As the river banks are important recharge areas for the groundwater stored upstream of the dam, the model showed high sensitivity for parameters like thickness and hydraulic conductivity of the shallow aquifer on the riverbanks and thickness of the sand layer in the riverbed. Parallel to the single dam model, a model for a series of dams was developed. This second model indicated that the inter-dam distance is an important parameter. The distance between dams determined whether influence areas did overlap or that dams behaved as individual structures. When the influence areas did overlap, stored water volume per dam decreased. The results from measurements and modeling confirm that sand-storage dams can effectively increase water availability throughout the dry season. Since measurements and models explain how sand-storage dams successfully modify hydrological systems in semi-arid Kenya, the results can assist in planning introduction of the technology in other regions.
A Dutch multidisciplinary expert panel favoured tumour-first testing in metastatic prostate cancer (PCa) to identify actionable variants. Consensus was reached to trigger cascade germline genetic ...testing in metastatic PCa patients having BRCA1/2 tumour pathogenic variants.
Germline and tumour genetic testing in prostate cancer (PCa) is becoming more broadly accepted, but testing indications and clinical consequences for carriers in each disease stage are not yet well defined.
To determine the consensus of a Dutch multidisciplinary expert panel on the indication and application of germline and tumour genetic testing in PCa.
The panel consisted of 39 specialists involved in PCa management. We used a modified Delphi method consisting of two voting rounds and a virtual consensus meeting.
Consensus was reached if ≥75% of the panellists chose the same option. Appropriateness was assessed by the RAND/UCLA appropriateness method.
Of the multiple-choice questions, 44% reached consensus. For men without PCa having a relevant family history (familial PCa/BRCA-related hereditary cancer), follow-up by prostate-specific antigen was considered appropriate. For patients with low-risk localised PCa and a family history of PCa, active surveillance was considered appropriate, except in case of the patient being a BRCA2 germline pathogenic variant carrier. Germline and tumour genetic testing should not be done for nonmetastatic hormone-sensitive PCa in the absence of a relevant family history of cancer. Tumour genetic testing was deemed most appropriate for the identification of actionable variants, with uncertainty for germline testing. For tumour genetic testing in metastatic castration-resistant PCa, consensus was not reached for the timing and panel composition. The principal limitations are as follows: (1) a number of topics discussed lack scientific evidence, and therefore the recommendations are partly opinion based, and (2) there was a small number of experts per discipline.
The outcomes of this Dutch consensus meeting may provide further guidance on genetic counselling and molecular testing related to PCa.
A group of Dutch specialists discussed the use of germline and tumour genetic testing in prostate cancer (PCa) patients, indication of these tests (which patients and when), and impact of these tests on the management and treatment of PCa.
We investigated whether patients with cervical dystonia (CD) have abnormal muscle activation in non‐dystonic body parts. Eight healthy controls and eight CD patients performed a flexion‐extension ...movement of the right wrist. Movement execution was recorded by surface electromyography (EMG) from forearm muscles. Although patients had no complaints concerning wrist movement and had no apparent difficulty in executing the task, they demonstrated lower mean EMG amplitude (flexor: 0.32 mV and extensor: 0.61 mV) than controls (flexor: 0.67 mV; P = 0.021 and extensor: 1.18 mV; P = 0.068; borderline significant). Mean extensor muscle contraction was prolonged in patients (1860 ms) compared with controls (1334 ms; P = 0.026). Variation in mean EMG amplitude over movements tended to be higher in patients (flexor: 43% and extensor: 35%) than controls (flexor: 34%; P = 0.072 and extensor: 26%; P = 0.073). These results suggest that CD patients also have abnormal muscle activation in non‐dystonic body parts at a subclinical level. This would support the concept that in dystonia, non‐dystonic limbs are in a ‘pre‐dystonic state’.
Duchenne muscular dystrophy is clinically characterised by progressive muscle weakness and a gradual increase in the size of some affected muscles, especially calf muscles. The extent of calf ...enlargement is usually determined by subjective visual assessment. The purpose of this study was to determine the extent of calf muscle enlargement in Duchenne muscular dystrophy (DMD) patients compared with healthy age matched boys by quantifying calf circumference. Calf circumference in the group of DMD patients is significantly increased. However, in individual patients calf enlargement can be feigned by a discrepancy between calf circumference and circumference of the upper leg and arm muscles as part of a general muscle atrophy.
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