No abstract

Objective: Most current algorithms for detecting Atrial Fibrillation (AF) rely on Heart Rate Variability (HRV), and only a few studies analyse the variability of Photopletysmography (PPG) waveform. This study aimed to compare morphological features of the PPG curve in patients with AF to those presenting a normal sinus rhythm (NSR) and evaluate their usefulness in AF detection.&#xD;Approach: 10-minute PPG signals were obtained from patients with persistent/paroxysmal AF and NSR. Nine morphological parameters (1/ΔT, Pulse Width [PW], Augmentation Index [AI], b/a, e/a, [b-e]/a, Crest Time [CT], Inflection Point Area [IPA], Area and five HRV parameters (Heart rate [HR], Shannon entropy [ShE], root mean square of the successive differences [RMSSD], number of pairs of consecutive systolic peaks [R-R] that differ by more than 50 ms [NN50], standard deviation of the R-R intervals [SDNN]) were calculated.&#xD;Main Results: Eighty subjects, including 33 with AF and 47 with NSR were recruited. In univariate analysis five morphological features (1/ΔT, p<0.001; b/a, p<0.001; [b-e]/a, p<0.001; CT, p=0.011 and Area, p<0.001) and all HRV parameters (p=0.01 for HR and p<0.001 for others) were significantly different between the study groups. In the stepwise multivariate model (Area under the curve [AUC] = 0.988 [0.974-1.000]), three morphological parameters (PW, p<0.001; e/a, p=0.011; (b-e)/a, p<0.001) and three of HRV parameters (ShE, p=0.01; NN50, p<0.001, HR, p = 0.01) were significant. &#xD;Significance: There are significant differences between AF and NSR, PPG waveform, which are useful in AF detection algorithm. Moreover adding those features to HRV-based algorithms may improve their specificity and sensitivity.&#xD;

Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disorder caused by a genetic mutation in the Survival of motor neuron 1 (SMN1) gene, which is responsible for the production of a protein essential to motor neurons’ survival. Insufficient levels of the SMN protein lead to the loss of motor neurons in the spinal cord, which manifests in progressive muscle wasting. Due to the absence of an effective treatment in the early years, the disease was taking its toll with the respiratory problems being the primary cause of death. Currently, there are multiple approved treatments for SMA, which help to manage the symptoms and to prevent complications, such as nusinersen, risdiplam, and onasemnogene abeparovec. In Poland, nusinersen treatment has been offered free of charge by the public health service since 2019. It wasn’t until September 2022 that the reimbursement procedure included the other two drugs. The recently published studies on the nusinersen treatment in Poland showed stabilization or slowdown in the progression of symptoms in all patients. In March 2022, Poland implemented an SMA screening program for newborns, which aimed to detect this fatal and disabling disease before the infant displayed any SMA symptoms. The program resulted so far in early diagnosis and intervention providing a better prognosis for patients. Combination of newborn screening and the drug reimbursement program has significantly increased the chances of SMA patients for effective treatment.