OBJECTIVE: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. METHODS: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. RESULTS: The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. CONCLUSION: NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR.

• Klíčová slova
• Cell-free DNA, Cost effectiveness, Down syndrome, Economic evaluation, Fetal diagnosis, Genetic testing, Maternal serum screening, Noninvasive prenatal diagnosis, Prenatal screening, Trisomy,
• MeSH
• analýza nákladů a výnosů MeSH
• aneuploidie * MeSH
• genetické testování * MeSH
• lidé MeSH
• metody pro podporu rozhodování MeSH
• neinvazivní prenatální testování * MeSH
• nejistota MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Cell-free DNA-based noninvasive prenatal testing (cfDNA) is a relatively new screening tool that analyzes cfDNA circulating in maternal plasma to screen for aneuploidies. Since its introduction, cfDNA has been rapidly adopted by health care providers (HCPs). This rapid adoption, as well as progressive developments in the technology, requires professional societies to continuously update their guidelines to indicate the broadening scope both in terms of test indications and patient populations for whom it has become the appropriate primary test. CfDNA testing, initially applied to high-risk patients, is now largely considered an option for all patients. For HCPs, the rapid introduction of cfDNA into clinical practice has come with the requirement to stay up-to-date and accurately informed. We performed a survey to understand the current practices and views of European HCPs on the use of cfDNA. European HCPs were surveyed on several topics such as familiarity with cfDNA-based noninvasive prenatal testing (NIPT), current usage, patient counseling, test menu expansion, and future perspectives. The results of this survey demonstrate increasing usage and awareness of cfDNA-based NIPT in five European countries (UK, France, Germany, Spain and Italy). Major barriers to implementation include cost and a lack of physician education on NIPT.

• Klíčová slova
• Cell-free DNA, Europe, Health care provider, Noninvasive prenatal testing, Survey,
• MeSH
• aneuploidie MeSH
• Downův syndrom krev   genetika   MeSH
• lidé MeSH
• neinvazivní prenatální testování etika   MeSH
• postoj MeSH
• průzkumy a dotazníky MeSH
• těhotenství MeSH
• volné cirkulující nukleové kyseliny krev   genetika   MeSH
• zdravotnický personál psychologie   MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa epidemiologie   MeSH
• Francie epidemiologie   MeSH
• Itálie epidemiologie   MeSH
• Německo epidemiologie   MeSH
• Španělsko epidemiologie   MeSH
• Názvy látek
• volné cirkulující nukleové kyseliny MeSH

Cardiac output (CO) assessment as a basic hemodynamic parameter has been of interest in exercise physiology, cardiology, and anesthesiology. Noninvasive techniques available are technically challenging, and thus difficult to use outside of a clinical or laboratory setting. We propose a novel method of noninvasive CO assessment using a single, upper-arm cuff. The method uses the arterial pressure pulse wave signal acquired from the brachial artery during 20-s intervals of suprasystolic occlusion. This method was evaluated in a cohort of 12 healthy individuals (age, 27.7 ± 5.4 yr, 50% men) and compared with an established method for noninvasive CO assessment, the open-circuit acetylene method (OpCirc) at rest, and during low- to moderate-intensity exercise. CO increased from rest to exercise (rest, 7.4 ± 0.8 vs. 7.2 ± 0.8; low, 9.8 ± 1.8 vs. 9.9 ± 2.0; moderate, 14.1 ± 2.8 vs. 14.8 ± 3.2 l/min) as assessed by the cuff-occlusion and OpCirc techniques, respectively. The average error of experimental technique compared with OpCirc was -0.25 ± 1.02 l/min, Pearson's correlation coefficient of 0.96 (rest + exercise), and 0.21 ± 0.42 l/min with Pearson's correlation coefficient of 0.87 (rest only). Bland-Altman analysis demonstrated good agreement between methods (within 95% boundaries); the reproducibility coefficient (RPC) = 0.84 l/min with R2 = 0.75 at rest and RPC = 2 l/min with R2 = 0.92 at rest and during exercise, respectively. In comparison with an established method to quantify CO, the cuff-occlusion method provides similar measures at rest and with light to moderate exercise. Thus, we believe this method has the potential to be used as a new, noninvasive method for assessing CO during exercise.

• Klíčová slova
• brachial cuff, cardiac output, noninvasive, occlusion,
• MeSH
• acetylen farmakologie   MeSH
• arteria brachialis účinky léků   fyziologie   MeSH
• cvičení fyziologie   MeSH
• dospělí MeSH
• krevní tlak účinky léků   fyziologie   MeSH
• lidé MeSH
• minutový srdeční výdej účinky léků   fyziologie   MeSH
• odpočinek fyziologie   MeSH
• reprodukovatelnost výsledků MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• acetylen MeSH

This paper introduces a novel algorithm for effective and accurate extraction of non-invasive fetal electrocardiogram (NI-fECG). In NI-fECG based monitoring, the useful signal is measured along with other signals generated by the pregnant women's body, especially maternal electrocardiogram (mECG). These signals are more distinct in magnitude and overlap in time and frequency domains, making the fECG extraction extremely challenging. The proposed extraction method combines the Grey wolf algorithm (GWO) with sequential analysis (SA). This innovative combination, forming the GWO-SA method, optimises the parameters required to create a template that matches the mECG, which leads to an accurate elimination of the said signal from the input composite signal. The extraction system was tested on two databases consisting of real signals, namely, Labour and Pregnancy. The databases used to test the algorithms are available on a server at the generalist repositories (figshare) integrated with Matonia et al. (Sci Data 7(1):1-14, 2020). The results show that the proposed method extracts the fetal ECG signal with an outstanding efficacy. The efficacy of the results was evaluated based on accurate detection of the fQRS complexes. The parameters used to evaluate are as follows: accuracy (ACC), sensitivity (SE), positive predictive value (PPV), and F1 score. Due to the stochastic nature of the GWO algorithm, ten individual runs were performed for each record in the two databases to assure stability as well as repeatability. Using these parameters, for the Labour dataset, we achieved an average ACC of 94.60%, F1 of 96.82%, SE of 97.49%, and PPV of 98.96%. For the Pregnancy database, we achieved an average ACC of 95.66%, F1 of 97.44%, SE of 98.07%, and PPV of 97.44%. The obtained results show that the fHR related parameters were determined accurately for most of the records, outperforming the other state-of-the-art approaches. The poorer quality of certain signals have caused deviation from the estimated fHR for certain records in the databases. The proposed algorithm is compared with certain well established algorithms, and has proven to be accurate in its fECG extractions.

• MeSH
• algoritmy MeSH
• databáze faktografické MeSH
• elektrokardiografie metody   MeSH
• lidé MeSH
• monitorování plodu * metody   MeSH
• počítačové zpracování signálu * MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

In acutely ill patients, particularly in intensive care units or in mixed infections, time to a microbe-specific diagnosis is critical to a successful outcome of therapy. We report the application of evolving technologies involving mass spectrometry to diagnose and monitor a patient's course. As proof of this concept, we studied five patients and used two rat models of mono-infection and coinfection. We report the noninvasive combined monitoring of Aspergillus fumigatus and Pseudomonas aeruginosa infection. The invasive coinfection was detected by monitoring the fungal triacetylfusarinine C and ferricrocin siderophore levels and the bacterial metabolites pyoverdin E, pyochelin, and 2-heptyl-4-quinolone, studied in the urine, endotracheal aspirate, or breath condensate. The coinfection was monitored by mass spectrometry followed by isotopic data filtering. In the rat infection model, detection indicated 100-fold more siderophores in urine compared to sera, indicating the diagnostic potential of urine sampling. The tools utilized in our studies can now be examined in large clinical series, where we could expect the accuracy and speed of diagnosis to be competitive with conventional methods and provide advantages in unraveling the complexities of mixed infections.

• Klíčová slova
• Aspergillus fumigatus, Pseudomonas aeruginosa, coinfection, invasive infection, noninvasive diagnosis, quorum-sensing molecules, siderophores, virulence factor,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Arterial compliance is an important cardiovascular parameter characterizing mechanical and structural properties of arteries and significantly influencing ventricular-arterial coupling. Decreased arterial compliance is associated with several physiological states and pathological processes. Furthermore, arterial compliance is influenced by other cardiovascular parameters even at short time scales. Today, there are numerous noninvasive methods of estimation arterial compliance in vivo introducing some level of confusion about selection of the best method for particular application and measurement setting. In this review, the most common noninvasive methods of arterial compliance estimation are summarized, discussed and categorized. Finally, interpretation of estimated arterial compliance in the context of other possible confounders is discussed.

• MeSH
• arterie * fyziologie   MeSH
• krevní tlak fyziologie   MeSH
• poddajnost MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

BACKGROUND: Despite scarce data, invasive mechanical ventilation (MV) is widely recommended over non-invasive ventilation (NIV) for ventilatory support in cardiogenic shock (CS). We assessed the real-life use of different ventilation strategies in CS and their influence on outcome focusing on the use of NIV and MV. METHODS: 219 CS patients were categorized by the maximum intensity of ventilatory support they needed during the first 24h into MV (n=137; 63%) , NIV (n=26; 12%), and supplementary oxygen (n=56; 26%) groups. We compared the clinical characteristics and 90-day outcome between the MV and the NIV groups. RESULTS: Mean age was 67years, 74% were men. The MV and NIV groups did not differ in age, medical history, etiology of CS, PaO2/FiO2 ratio, baseline hemodynamics or LVEF. MV patients predominantly presented with hypoperfusion, with more severe metabolic acidosis, higher lactate levels and greater need for vasoactive drugs, whereas NIV patients tended to be more often congestive. 90-day outcome was significantly worse in the MV group (50% vs. 27%), but after propensity score adjustment, mortality was equal in both groups. Confusion, prior CABG, ACS etiology, higher lactate level, and lower baseline PaO2 were independent predictors of mortality, whereas ventilation strategy did not have any influence on outcome. CONCLUSIONS: Although MV is generally recommended mode of ventilatory support in CS, a fair number of patients were successfully treated with NIV. Moreover, ventilation strategy was not associated with outcome. Thus, NIV seems a safe option for properly chosen CS patients.

• Klíčová slova
• Acute coronary syndrome, Acute myocardial infarction, Cardiogenic shock, Mechanical ventilation, Noninvasive ventilation, Ventilation,
• MeSH
• jednotky intenzivní péče * MeSH
• kardiogenní šok komplikace   mortalita   terapie   MeSH
• lidé MeSH
• míra přežití trendy   MeSH
• mortalita v nemocnicích trendy   MeSH
• neinvazivní ventilace metody   MeSH
• respirační insuficience etiologie   mortalita   terapie   MeSH
• senioři MeSH
• umělé dýchání metody   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• randomizované kontrolované studie MeSH
• Geografické názvy
• Evropa epidemiologie   MeSH

OBJECTIVES: The young population requires early rehabilitation of their hearing loss for normal cognitive, auditive hence social development. All of which, in turn, may have an impact on quality of life (QoL). This study aims to evaluate QoL between two different bone conduction (BC) hearing devices: a noninvasive adhesive hearing aid (Adhear [ADH]) vs. an active transcutaneous implant (Bonebridge [BB]). METHODS: This study composed of 12 BB and 15 ADH users. Pure tone as well as speech in noise and quiet measurements were evaluated and compared to the Assessment in QoL questionnaire (AQoL-6d). RESULTS: Freefield results showed significant improvements for both devices compared to the unaided condition (p < .0001). Emphasis needs to be drawn on the different unaided level of conductive hearing loss as well as the indication range for both evaluated device groups: the ADH subjects exhibited a mean BC value of 9.50 ± 7.96 dB HL (the indication range up to 25 dB) and the BB subjects a mean of 23.33 ± 25.66 dB HL (the indication range up to 45 dB). Speech perception in quiet and in noise was significantly improved (p < .05; p < .001, respectively). QoL was significantly improved for both treatments (p < .05) but was not different among the devices, and the values were similar to their normal hearing, age, and sex-matched control group. High correlations were found between QoL utility scores and improved PTA4 in the aided condition (r 2 = .8839 and .7810 for BB and ADH, respectively). CONCLUSION: Our results show that both devices offer significant beneficial audiological rehabilitations with significantly increased QoL. However, the underlying condition and the unaided degree of hearing loss, hence the required higher stimulation must be the deciding factor when opting for a hearing device, and this should be independent of age. LEVEL OF EVIDENCE: 2c.

• Klíčová slova
• Adhear, Bonebridge, active transcutaneous bone conduction implant, adhesive bone conduction hearing aid, invasive, noninvasive,
• Publikační typ
• časopisecké články MeSH

Objective: The implementation of nutritional support is a basic need of patients in palliative oncological care. This pilot study optimized the use of sipping to improve the nutritional status of cancer patients in palliative care. Materials and Method: The pilot study included 63 patients, 61.3 years of age on average (range: 32-82 years of age). The patients were assigned to either group A (no nutritional support n = 39 patients) or group B (sipping as nutritional support n = 24 patients). The patients were evaluated through by noninvasive methods: body weight, waist and arm circumference, and triceps skinfold, bioimpedance analysis, and dynamometry. Quality of life was assessed through modified questionnaires. Results: In contrast with group A, group B did not have a significant weight loss, that is, A: 81.9 ± 15.8-80.5 ± 15.8 kg (P = .028) and B: 73.9 ± 14.9-73 ± 16 kg. Body mass index A: 29 ± 5-28.5 ± 5 kg/m2 (P = .007) and B: 25.3 ± 4.7-25 ± 4.9 kg/m2 (P = .614). Waist circumference A: 93.5 ± 15.1-92.5 ± 14.8 cm (P = .008) and B: 80.1 ± 13.2-80.6 ± 12.3 cm (P = .234). Triceps skinfold A: 12.3 ± 7.2-11 ± 6.7 mm (P = .001) and B: 8.2 ± 6.1-7.9 ± 5.7 mm (P = .207). Fat free mass A: 54.8 ± 11.5-52.8 ± 11.6 kg (P = .018) and B: 54.7 ± 10.9-52.8 ± 11.5 kg (P = .207). Significantly lower dynamometer values were recorded in both groups; A: 25.6 ± 10.4-23.1 ± 10.3 kg (P = .010) and B: 27.4 ± 9.9-24.3 ± 9.1 kg (P = .009). In contrast to group B, the patients in group A showed slight variations in their health status, thus decreasing their scores into the significance limit (P = .072). Conclusion: Our results suggest that providing nutritional support in the form of sipping (∼12 g proteins, 300 kcal) on a daily basis prevents the loss of active tissue mass in palliative oncology patients. Based on these results, we recommend the inclusion of this simple nutritional support to prevent malnutrition in cancer patients in palliative care. The clinical study was registered by the internal ethics committee under the heading of its approval - Institutional Ethics Committee of the Hradec Králové Faculty Hospital, number 201311S2OP.

• Klíčová slova
• malnutrition, noninvasive methods, palliative oncology care, quality of life, sipping,
• MeSH
• dospělí MeSH
• kvalita života MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory * terapie   MeSH
• nutriční stav MeSH
• paliativní péče * MeSH
• pilotní projekty MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising and more reliable, the ability to detect beyond aneuploidies and to expand detection of submicroscopic genomic alterations, as well as single-gene disorders might become possible. CASE PRESENTATION: Here we present a case of a 34-year-old pregnant woman, G2P1, who had NIPT screening which detected a terminal microduplication of 10.34 Mb on the long arm of chromosome 15 (15q26.1q26.3). Subsequent prenatal diagnostic testing including karyotype, microarray and fluorescence in situ hybridization (FISH) analyses were performed. Microarray testing confirmed and particularized a copy number gain of 10.66 Mb of the distal end of the long arm of chromosome 15. The G-banding cytogenetic studies yielded results consistent with unbalanced translocation between chromosome 15 and 18. To further characterize the abnormality involving the long arm of chromosome 18 and to map the genomic location of the duplicated 15q more precisely, FISH analysis using specific sub-telomeric probes was performed. FISH analysis confirmed that the extra duplicated segment of chromosome 15 is translocated onto the distal end of the long arm of chromosome 18 at band 18q23. Parental karyotype and FISH studies were performed to see if this unbalanced rearrangement was inherited from a healthy balanced translocation carrier versus being a de novo finding. Parental chromosomal analysis provided no evidence of a rearrangement between chromosome 15 and chromosome 18. The final fetal karyotype was reported as 46,XX,der(18)t(15;18)(q26.2;q23)dn. CONCLUSIONS: In this case study, the microduplication of fetal chromosome 15q26.1q26.3 was accurately detected using NIPT. Our results suggest that further refinements in NIPT have the potential to evolve to a powerful and efficient screening method, which might be used to detect a broad range of chromosomal imbalances. Since microduplications and microdeletions are a potential reportable result with NIPT, this must be included in pre-test counseling. Prenatal diagnostic testing of such findings is strongly recommended.

• Klíčová slova
• 15q26.1-qter partial trisomy, Microduplication, Noninvasive prenatal test, Prenatal testing,
• Publikační typ
• časopisecké články MeSH