Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.

Background: Elevated TCRαβCD4CD8 double-negative T cells (DNT) and serum biomarkers help identify FAS mutant patients with autoimmune lymphoproliferative syndrome (ALPS). However, in some patients with clinical features and biomarkers consistent with ALPS, germline or somatic FAS mutations cannot be identified on standard exon sequencing (ALPS-undetermined: ALPS-U).

Objective: We sought to explore whether complex genetic alterations in the FAS gene escaping standard sequencing or mutations in other FAS pathway-related genes could explain these cases.

Objective Burden and Emotional Distress of Parents of Children with Type 1 Diabetes.

Introduction: The management of childhood type 1 diabetes requires the active participation of parents. The aim of the present study was to describe the main characteristics of parents of children with type 1 diabetes, including objective burden regarding time spent on diabetes care, emotional distress (exhaustion, need for respite, quality of life), and symptoms of depression as well as anxiety.

Methods: In this observational study, parents of children with type 1 diabetes completed a questionnaire, anonymously.

Numerical assessment of wake-based estimation of instantaneous lift in flapping flight of large birds.

Experimental characterization of bird flight without instrumenting the animal requires measuring the flow behind the bird in a wind tunnel. Models are used to link the measured velocities to the corresponding aerodynamic forces. Widely-used models can, however, prove inconsistent when evaluating the instantaneous lift.

Müllerian mimicry among bees and wasps: a review of current knowledge and future avenues of research.

Many bees and stinging wasps, or aculeates, exhibit striking colour patterns or conspicuous coloration, such as black and yellow stripes. Such coloration is often interpreted as an aposematic signal advertising aculeate defences: the venomous sting. Aposematism can lead to Müllerian mimicry, the convergence of signals among different species unpalatable to predators.

On the role of tail in stability and energetic cost of bird flapping flight.

Migratory birds travel over impressively long distances. Consequently, they have to adopt flight regimes being both efficient-in order to spare their metabolic resources-and robust to perturbations. This paper investigates the relationship between both aspects, i.

Reliable reference genes and abiotic stress marker genes in Klebsormidium nitens.

Microalgae have recently emerged as a key research topic, especially as biological models. Among them, the green alga Klebsormidium nitens, thanks to its particular adaptation to environmental stresses, represents an interesting photosynthetic eukaryote for studying the transition stages leading to the colonization of terrestrial life. The tolerance to different stresses is manifested by changes in gene expression, which can be monitored by quantifying the amounts of transcripts by RT-qPCR.

Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of () Pathogenic Variants.

Background: pathogenic variants can cause congenital adrenal hypoplasia or primary adrenal insufficiency in early childhood usually associated with hypogonadotropic hypogonadism. is necessary for organogenesis of the adrenal cortex and to maintain normal spermatogenesis. In humans, restoration of fertility in patients carrying pathogenic variants is challenging.

Multimodal Continual Learning with Sonographer Eye-Tracking in Fetal Ultrasound.

Deep networks have been shown to achieve impressive accuracy for some medical image analysis tasks where large datasets and annotations are available. However, tasks involving learning over new sets of classes arriving over extended time is a different and difficult challenge due to the tendency of reduction in performance over old classes while adapting to new ones. Controlling such a 'forgetting' is vital for deployed algorithms to evolve with new arrivals of data incrementally.

Identification of Partner Proteins of the Algae NO Synthases: Toward a Better Understanding of NO Signaling in Eukaryotic Photosynthetic Organisms.

In animals, NO is synthesized from L-arginine by three isoforms of nitric oxide synthase (NOS) enzyme. NO production and effects have also been reported in plants but the identification of its sources, especially the enzymatic ones, remains one of the critical issues in the field. NOS-like activities have been reported, although there are no homologs of mammalian NOS in the land plant genomes sequenced so far.

Semi-Automatic Spectral Image Stitching for a Compact Hybrid Linescan Hyperspectral Camera towards Near Field Remote Monitoring of Potato Crop Leaves.

The miniaturization of hyperspectral cameras has opened a new path to capture spectral information. One such camera, called the hybrid linescan camera, requires accurate control of its movement. Contrary to classical linescan cameras, where one line is available for every band in one shot, the latter asks for multiple shots to fill a line with multiple bands.

Desulfonative Suzuki-Miyaura Coupling of Sulfonyl Fluorides.

Sulfonyl fluorides have emerged as powerful "click" electrophiles to access sulfonylated derivatives. Yet, they are relatively inert towards C-C bond forming transformations, notably under transition-metal catalysis. Here, we describe conditions under which aryl sulfonyl fluorides act as electrophiles for the Pd-catalyzed Suzuki-Miyaura cross-coupling.

Transforming obstetric ultrasound into data science using eye tracking, voice recording, transducer motion and ultrasound video.

Ultrasound is the primary modality for obstetric imaging and is highly sonographer dependent. Long training period, insufficient recruitment and poor retention of sonographers are among the global challenges in the expansion of ultrasound use. For the past several decades, technical advancements in clinical obstetric ultrasound scanning have largely concerned improving image quality and processing speed.

Gene expression signatures predict response to therapy with growth hormone.

Recombinant human growth hormone (r-hGH) is used as a therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). Treatment is costly and current methods to model response are inexact. GHD (n = 71) and TS patients (n = 43) were recruited to study response to r-hGH over 5 years.

The chaperone-like protein Cdc48 regulates ubiquitin-proteasome system in plants.

The degradation of misfolded proteins is mainly mediated by the ubiquitin-proteasome system (UPS). UPS can be assisted by the protein Cdc48 but the relationship between UPS and Cdc48 in plants has been poorly investigated. Here, we analysed the regulation of UPS by Cdc48 in tobacco thanks to two independent cell lines overexpressing Cdc48 constitutively and plant leaves overexpressing Cdc48 transiently.

Knowledge representation and learning of operator clinical workflow from full-length routine fetal ultrasound scan videos.

Ultrasound is a widely used imaging modality, yet it is well-known that scanning can be highly operator-dependent and difficult to perform, which limits its wider use in clinical practice. The literature on understanding what makes clinical sonography hard to learn and how sonography varies in the field is sparse, restricted to small-scale studies on the effectiveness of ultrasound training schemes, the role of ultrasound simulation in training, and the effect of introducing scanning guidelines and standards on diagnostic image quality. The Big Data era, and the recent and rapid emergence of machine learning as a more mainstream large-scale data analysis technique, presents a fresh opportunity to study sonography in the field at scale for the first time.

Model coupling biomechanics and fluid dynamics for the simulation of controlled flapping flight.

This paper proposes a multiphysics computational framework coupling biomechanics and aerodynamics for the simulation of bird flight. It features a biomechanical model based on the anatomy of a bird, which models the bones and feathers of the wing. The aerodynamic solver relies on a vortex particle-mesh method and represents the wing through an immersed lifting line, acting as a source of vorticity in the flow.

Nitric oxide production and signalling in algae.

Nitric oxide (NO) was the first identified gaseous messenger and is now well established as a major ubiquitous signalling molecule. The rapid development of our understanding of NO biology in embryophytes came with the partial characterization of the pathways underlying its production and with the decrypting of signalling networks mediating its effects. Notably, the identification of proteins regulated by NO through nitrosation greatly enhanced our perception of NO functions.

Spatio-temporal visual attention modelling of standard biometry plane-finding navigation.

We present a novel multi-task neural network called Temporal SonoEyeNet (TSEN) with a primary task to describe the visual navigation process of sonographers by learning to generate visual attention maps of ultrasound images around standard biometry planes of the fetal abdomen, head (trans-ventricular plane) and femur. TSEN has three components: a feature extractor, a temporal attention module (TAM), and an auxiliary video classification module (VCM). A soft dynamic time warping (sDTW) loss function is used to improve visual attention modelling.

Discovering Salient Anatomical Landmarks by Predicting Human Gaze.

Anatomical landmarks are a crucial prerequisite for many medical imaging tasks. Usually, the set of landmarks for a given task is predefined by experts. The landmark locations for a given image are then annotated manually or via machine learning methods trained on manual annotations.

Preoperative Topical Estrogen Treatment vs Placebo in 244 Children With Midshaft and Posterior Hypospadias.

Purpose: Urethral fistula and dehiscence are common after hypospadias surgery. Preoperative androgens have been considered to reduce these complications although this consideration is not evidence-based. Dermatologists have reported the benefits of topical estrogens on skin healing.

Safety Indices of Ultrasound: Adherence to Recommendations and Awareness During Routine Obstetric Ultrasound Scanning.

Purpose:  To analyze bioeffect safety indices and assess how often operators look at these indices during routine obstetric ultrasound.

Materials And Methods:  Automated analysis of prospectively collected data including video recordings of full-length ultrasound scans coupled with operator eye tracking was performed. Using optical recognition, we extracted the Mechanical Index (MI), Thermal Index in soft tissue (TIs), and Thermal Index in bone (TIb) values and ultrasound mode.

Spatio-Temporal Partitioning and Description of Full-Length Routine Fetal Anomaly Ultrasound Scans.

This paper considers automatic clinical workflow description of full-length routine fetal anomaly ultrasound scans using deep learning approaches for spatio-temporal video analysis. Multiple architectures consisting of 2 and 2 + CNN, LSTM, and convolutional LSTM are investigated and compared. The contributions of short-term and long-term temporal changes are studied, and a multi-stream framework analysis is found to achieve the best top-1 accuracy=0.

Ultrasound Image Representation Learning by Modeling Sonographer Visual Attention.

Image representations are commonly learned from class labels, which are a simplistic approximation of human image understanding. In this paper we demonstrate that transferable representations of images can be learned without manual annotations by modeling human visual attention. The basis of our analyses is a unique gaze tracking dataset of sonographers performing routine clinical fetal anomaly screenings.

Captioning Ultrasound Images Automatically.

We describe an automatic natural language processing (NLP)-based image captioning method to describe fetal ultrasound video content by modelling the vocabulary commonly used by sonographers and sonologists. The generated captions are similar to the words spoken by a sonographer when describing the scan experience in terms of visual content and performed scanning actions. Using full-length second-trimester fetal ultrasound videos and text derived from accompanying expert voice-over audio recordings, we train deep learning models consisting of convolutional neural networks and recurrent neural networks in merged configurations to generate captions for ultrasound video frames.