Major congenital heart defects are rarely diagnosed after newborns' hospital discharge with modern screening

Aim: Our aim was to assess undiagnosed congenital heart defects (CHD) after newborns' hospital discharge in patients with a murmur or CHD suspicion, to find out the signs that predict CHDs and to estimate the costs of the examinations. Methods: We reviewed retrospective medical records of patients (n = 490) referred for the evaluation of CHD suspicion during 2017–2018. Results: The median age of the patients was 2.5 (IQR 0.5–7.4) years. Sixty-three (13%) patients had an abnormal echocardiography. Neither ductal-dependent nor cyanotic CHDs were found. Cardiac interventions were performed for 14 out of 63 (22%) patients. Clinical signs indicating CHDs were murmur grade ≥3 (10/11 [91%] vs. 53/479 [11%], p < 0.001) and harsh murmur (15/44 [34%] vs. 48/446 [11%], p < 0.001). Abnormal electrocardiography did not indicate CHD (8/40 [20%] vs. 55/447 [12%], p = 0.165). The total cost of the examinations was 259 700€. The share of the cost of studies assessed as benign was 59%. Conclusion: Only a few CHDs were found after newborn hospital discharge among patients who received foetal and newborn screening and were examined due to CHD suspicion. The high number of benign murmurs in children leads to many referrals, resulting in unnecessary healthcare costs.Peer reviewe

Recessive TMOD1 mutation causes childhood cardiomyopathy.

Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565C>T, p.R189W) in three individuals from two unrelated families with childhood-onset dilated and restrictive cardiomyopathy. To decipher the mechanism of pathogenicity of the R189W mutation in TMOD1, we utilized a wide array of methods, including protein analyses, biochemistry and cultured cardiomyocytes. Structural modeling revealed potential defects in the local folding of TMOD1R189W and its affinity for actin. Cardiomyocytes expressing GFP-TMOD1R189W demonstrated longer thin filaments than GFP-TMOD1wt-expressing cells, resulting in compromised filament length regulation. Furthermore, TMOD1R189W showed weakened activity in capping actin filament pointed ends, providing direct evidence for the variant's effect on actin filament length regulation. Our data indicate that the p.R189W variant in TMOD1 has altered biochemical properties and reveals a unique mechanism for childhood-onset cardiomyopathy

Diagnosis and treatment of primary aldosteronism

Primaari aldosteronismi (PA) on yleisin hoidettava mutta alidiagnosoitu sekundaarisen hypertension syy. Essentiaaliseen verenpainetautiin verrattuna se aiheuttaa selvästi suurentuneen elinkomplikaatioiden ja kuoleman riskin. Seulonta aldosteroni-reniinisuhteen mittauksella tulisi kohdistaa erityisesti työikäisiin, vaikeahoitoista verenpainetautia sairastaviin potilaisiin, joilla verenpaineeseen yhdistyy taipumus hypokalemiaan. Seulonta- ja varmentavien kokeiden oikeaan suorittamiseen ja tulkintaan tulee kiinnittää huomioita ja negatiiviset kokeet uusia kliinisen epäilyn jatkuessa. Diagnoosin jälkeen kliininen tilanne, potilaan toiveet hoidosta ja aldosteronin erityksen puolieron tutkimukset ratkaisevat, valitaanko hoidoksi mineralokortikoidireseptorin antagonisti vai toispuoleinen adrenalektomia. Nämä täsmähoidot parantavat ennustetta, mutta leikkauksen jälkeen pienellä osalla PA uusii toisessa lisämunuaisessa, joten potilaat tarvitsevat seurantaa ja valtimotaudin kaikkien riskitekijöiden hyvää hoitoa.publishedVersionPeer reviewe

Magnetisation of isolated single crystalline fe-nanoparticles measured by a ballistic hall micro-magnetometer

We present here the first magnetisation measurements on isolated single crystalline Fe-nanoparticles performed with a ballistic Hall micro-magnetometer. The measurements have a sensitivity of $10^{4}\mu_{\rm B}$ and thus provide us the possibility to study the mechanisms of magnetisation reversal in a single nanoparticle. The magnetic properties of the nanoparticles are influenced by their crystal structure and shape, and the presence of an oxide surface layer. They exhibit curling of the magnetic moments, but also a novel hysteresis behaviour. The spin configurations found for the system agree well with numerical calculations based on a Heisenberg Hamiltonian including the exchange and dipole interaction and surface anisotropy

Speckle tracking echocardiography detects decreased cardiac longitudinal function in anthracycline-exposed survivors of childhood cancer

Longitudinal motion significantly contributes to the contraction of the ventricles. We studied the left (LV) and right ventricular (RV) longitudinal functions in 75 anthracycline-exposed, long-term childhood cancer survivors and 75 healthy controls with conventional echocardiography, tissue Doppler imaging (TDI), speckle tracking echocardiography (STE) of the mitral and tricuspid annular motion, and real-time three-dimensional echocardiography (RT-3DE). Cardiac magnetic resonance (CMR) imaging was performed on 61 of the survivors. The survivors had lower systolic myocardial velocities in the LV and lower diastolic velocities in both ventricles by TDI than did their healthy peers. The STE-based tissue motion annular displacement (TMAD) values describing the LV and RV systolic longitudinal function (MAD and TAD mid%, respectively) were also lower among the survivors (15.4 +/- 2.4 vs. 16.1 +/- 2.2 %, p = 0.049 and 22.5 +/- 3.0 vs. 23.5 +/- 3.0 %, p = 0.035). MAD and TAD mid in millimeters correlated with the respective ventricular volumes measured with RT-3DE or CMR. Conclusion: Childhood cancer survivors exposed to low to moderate anthracycline doses had decreased longitudinal systolic and diastolic functions (TDI or STE) compared with healthy controls. The STE-based TMAD is a fast and reproducible method to assess cardiac longitudinal function.Peer reviewe

The properties of biomomimetically processed calcium phosphate on bioactive ceramics and their response on bone cels.

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