Validation of the optical Aktiia bracelet in different body positions for the persistent monitoring of blood pressure.

The diagnosis of hypertension and the adjustment of antihypertensive drugs are evolving from isolated measurements performed at the physician offices to the full phenotyping of patients in real-life conditions. Indeed, the strongest predictor of cardiovascular risk comes from night measurements. The aim of this study was to demonstrate that a wearable device (the Aktiia Bracelet) can accurately estimate BP in the most common body positions of daily life and thus become a candidate solution for the BP phenotyping of patients.

Blood pressure from the optical Aktiia Bracelet: a 1-month validation study using an extended ISO81060-2 protocol adapted for a cuffless wrist device.

Objective: The objective of this study (NCT04027777) was to assess the accuracy and precision of the Aktiia Bracelet, a CE-marked noninvasive optical blood pressure (BP) monitor worn at the wrist, over a period of 1 month.

Methods: In this study, participants aged between 21 and 65 years were recruited. The clinical investigation extended the ISO81060-2:2013 standard to the specificities of cuffless devices.

Are cuffless devices challenged enough? Design of a validation protocol for ambulatory blood pressure monitors at the wrist: the case of the Aktiia Bracelet.

The US and European guidelines for the diagnosis and management of hypertension recommend the introduction of systematic home and night Blood Pressure (BP) monitoring. Fully-automated wearable devices can address the needs of patients and clinicians by improving comfort while achieving measurement accuracy. Often located at the wrist and based on indirect BP measurements, these devices must address the challenges of ambulatory scenarios.

Accuracy testing of a new optical device for noninvasive estimation of systolic and diastolic blood pressure compared to intra-arterial measurements.

Objective: The objective of this study was to compare the systolic (S) and diastolic (D) blood pressure (BP) estimations from a new optical device at the wrist with invasive measurements performed on patients scheduled for radial arterial catheterization in the ICU. Optical signals were automatically processed by a library of algorithms from Aktiia SA (OBPM - optical blood pressure monitoring algorithms).

Methods: A total of 31 participants from both sexes, aged 32-87 years, were enrolled in the study (NCT03837769).

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.

We describe 542 cases of symptomatic hereditary transthyretin amyloid polyneuropathy (ATTR-PN) identified through a review of the literature published between 2005 and 2016. Approximately 18% of the cases were from countries where ATTR-PN is traditionally considered to be endemic (i.e.

Can one detect atrial fibrillation using a wrist-type photoplethysmographic device?

This study aims at evaluating the potential of a wrist-type photoplethysmographic (PPG) device to discriminate between atrial fibrillation (AF) and other types of rhythm. Data from 17 patients undergoing catheter ablation of various arrhythmias were processed. ECGs were used as ground truth and annotated for the following types of rhythm: sinus rhythm (SR), AF, and ventricular arrhythmias (VA).

A Novel Short-Term Event Extraction Algorithm for Biomedical Signals.

In this paper, we propose a fast novel nonlinear filtering method named Relative-Energy (Rel-En), for robust short-term event extraction from biomedical signals. We developed an algorithm that extracts short- and long-term energies in a signal and provides a coefficient vector with which the signal is multiplied, heightening events of interest. This algorithm is thoroughly assessed on benchmark datasets in three different biomedical applications, namely ECG QRS-complex detection, EEG K-complex detection, and imaging photoplethysmography (iPPG) peak detection.

Robust heart rate estimation using wrist-type photoplethysmographic signals during physical exercise: an approach based on adaptive filtering.

Photoplethysmographic (PPG) signals are easily corrupted by motion artifacts when the subjects perform physical exercise. This paper introduces a two-step processing scheme to estimate heart rate (HR) from wrist-type PPG signals strongly corrupted by motion artifacts. Adaptive noise cancellation, using normalized least-mean-square algorithm, is first performed to attenuate motion artifacts and reconstruct multiple PPG waveforms from different combinations of corrupted PPG waveforms and accelerometer data.

False arrhythmia alarms reduction in the intensive care unit: a multimodal approach.

The purpose of this study was to develop algorithms to lower the incidence of false arrhythmia alarms in the ICU using information from independent sources, namely electrocardiogram (ECG), arterial blood pressure (ABP) and photoplethysmogram (PPG). Our approach relies on robust adaptive signal processing techniques in order to extract accurate heart rate (HR) values from the different waveforms. Based on the quality of available signals, heart rate was either estimated from pulsatile waveforms using an adaptive frequency tracking algorithm or computed from ECGs using an adaptive mathematical morphology approach.

Sleep Disordered Breathing During Live High-Train Low in Normobaric Versus Hypobaric Hypoxia.

Saugy, Jonas J., Laurent Schmitt, Sibylle Fallet, Raphael Faiss, Jean-Marc Vesin, Mattia Bertschi, Raphaël Heinzer, and Grégoire P. Millet.

Gastrointestinal motility during sleep assessed by tracking of telemetric capsules combined with polysomnography - a pilot study.

Studies of gastrointestinal function during sleep are hampered by lack of applicable techniques. Recent development of a novel ambulatory telemetric capsule system, which can be used in conjunction with polysomnography, offers a solution to this problem. The 3D-Transit system consists of ingestible electromagnetic capsules traceable through a portable extracorporeal receiver while traversing the gut.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Background: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations.

Methods: This multinational, retrospective case series abstracted data from records of 20 patients with Hurler-Scheie syndrome within nine sibships that included older siblings treated with laronidase after the development of significant clinical symptoms, and younger siblings treated before significant symptomatology.

Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.

Objective: Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagnosis and initiation of treatment, we characterized the extent of airway-related symptoms and surgeries among patients with MPS I.

Methods: Analysis of the frequency of airway-related symptoms and surgeries from 1041 patients enrolled in the MPS I Registry and correlation with other systemic manifestations of MPS I.

The natural history of MPS I: global perspectives from the MPS I Registry.

Purpose: In this study, we aimed to describe the natural history of mucopolysaccharidosis I.

Methods: Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated patients and data prior to treatment for patients who received treatment were considered.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in late childhood, adolescence or adult life. We have recently demonstrated that the fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C), characterized by the inability to walk, leg muscle hypertrophy and a secondary deficiency of laminin alpha2 and alpha-dystroglycan.

Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome.

Neocentromeres are fully functional centromeres found on rearranged or marker chromosomes that have separated from endogenous centromeres. Neocentromeres often result in partial tri- or tetrasomy because their formation confers mitotic stability to acentric chromosome fragments that would normally be lost. We describe the prenatal identification and characterization of a de novo supernumerary marker chromosome (SMC) containing a neocentromere in a 20-wk fetus by the combined use of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH).

Mosaicism with a normal cell line and an unbalanced structural rearrangement.

Mosaicism with a normal cell line (N) and an unbalanced autosomal structural rearrangement (UASR) is rare. This report describes a case of a newborn female with a karyotype of 46,XX,der(4)t(4;15)(q35;q22)/46,XX. Molecular cytogenetic analysis confirmed the origin of the derivative chromosome 4.

Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature.

Low level chromosome mosaicism found at amniocentesis is problematic for clinicians and patients. We report prenatal diagnosis of a fetus with a rare karyotype of 47,XX, + 15/46,XX. Second trimester amniocentesis was performed for advanced maternal age.

Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.

We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from animal studies demonstrates autosomal recessive inheritance and provides a possible molecular basis for congenital vocal cord paralysis.