Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in the cases (n = 144).

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in cases (n = 144).

Ten-Year Evolution of Statin Eligibility and Use in a Population-Based Cohort.

Studies showing that the management of dyslipidemia is suboptimal are hampered by their cross-sectional design or short follow-up. Using recent data from a population-based cohort with a 10-year follow-up, we assessed the use of statins, including their intensity. We used data from the CoLaus|PsyColaus study, involving 4,655 participants at baseline (2003 to 2006) and 3,587 at 10-year follow-up (2014 to 2017).

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.

Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one end, to polygenic risk given by thousands of common variants with small effects at the other end. The mitochondrial DNA (mtDNA) was also proposed as a genetic modifier for ASD, mostly focusing on maternal mtDNA, since the paternal mitogenome is not transmitted to offspring.

In Vivo Parieto-Occipital White Matter Metabolism Is Correlated with Visuospatial Deficits in Adult DM1 Patients.

Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal muscle and brain affection. Neuroimaging studies showed widespread white matter changes and brain atrophy in DM1, but only a few studies investigated the role of white matter metabolism in the pathophysiology of central nervous system impairment. We aim to reveal the relationship between the metabolic profile of parieto-occipital white matter (POWM) as evaluated with proton MR spectroscopy technique, with the visuoperceptual and visuoconstructional dysfunctions in DM1 patients.

Rhythmic Relating: Bidirectional Support for Social Timing in Autism Therapies.

We propose for autism: a system of supports for friends, therapists, parents, and educators; a system which aims to augment bidirectional communication and complement existing therapeutic approaches. We begin by summarizing the developmental significance of and the challenges observed in early autism. Meta-analyses conclude the early primacy of such challenges, yet cite the lack of focused therapies.

Ending Neonatal Deaths From Hypothermia in Sub-Saharan Africa: Call for Essential Technologies Tailored to the Context.

Neonatal death represents a major burden in Sub-Saharan Africa (SSA), where the main conditions triggering mortality, such as prematurity, labor complications, infections, and respiratory distress syndrome, are frequently worsened by hypothermia, which dramatically scales up the risk of death. In SSA, the lack of awareness on the procedures to prevent hypothermia and the shortage of essential infant devices to treat it are hampering the reduction of neonatal deaths associated to hypothermia. Here, we offer a snapshot on the current available medical solutions to prevent and treat hypothermia in SSA, with a focus on Kenya.

Contribution of Variants in Autism Spectrum Disorder Susceptibility.

Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated calcium channels (VGCCs or Ca) genes have been implicated as high-confidence susceptibility genes for ASD, in accordance with the relevant role of calcium signaling in neuronal function.

What Can Resting-State fMRI Data Analysis Explain about the Functional Brain Connectivity in Glioma Patients?

Resting-state functional MRI has been increasingly implemented in imaging protocols for the study of functional connectivity in glioma patients as a sequence able to capture the activity of brain networks and to investigate their properties without requiring the patients' cooperation. The present review aims at describing the most recent results obtained through the analysis of resting-state fMRI data in different contexts of interest for brain gliomas: the identification and localization of functional networks, the characterization of altered functional connectivity, and the evaluation of functional plasticity in relation to the resection of the glioma. An analysis of the literature showed that significant and promising results could be achieved through this technique in all the aspects under investigation.

Sex and gender differences in the development of empathy.

The topic of typical sex and gender difference in empathy is examined in both a developmental and neuroscientific perspective. Empathy is construed as a multi-layered phenomenon with various degrees of complexity unfolding in ontogeny. The different components of empathy (i.

[Medical informatics in response to COVID-19 The experience of the Service of Internal Medicine at CHUV].

Medical informatics played a decisive role in the management of the health crisis linked to COVID-19, in particular for the support of hospital clinical, governance and communication activities. In this article, we present the experience of CHUV's Internal Medicine Service in these three areas, and analyse some critical points of our information system revealed by the crisis. The development, implementation, and maintenance of new IT tools during the crisis is a challenge.

Cold exposure protects from neuroinflammation through immunologic reprogramming.

Autoimmunity is energetically costly, but the impact of a metabolically active state on immunity and immune-mediated diseases is unclear. Ly6C monocytes are key effectors in CNS autoimmunity with an elusive role in priming naive autoreactive T cells. Here, we provide unbiased analysis of the immune changes in various compartments during cold exposure and show that this energetically costly stimulus markedly ameliorates active experimental autoimmune encephalomyelitis (EAE).

Evidence of acrolein in synovial fluid of dogs with osteoarthritis as a potential inflammatory biomarker.

Background: Acrolein is a known pro-inflammatory toxic aldehyde, propagating cellular damage and tissue inflammation in humans and animal models of various diseases. Osteoarthritis (OA) has a significant inflammatory component; however, presence of acrolein in synovial fluid of joints with OA has not been previously reported. The first aim of this study was to evaluate evidence of acrolein in the synovial fluid of dogs with OA as well as in Control joints.

Treatment of shoulder joint luxation with glenoid ostectomy in a miniature donkey.

Case Description: A 13-year-old 128-kg miniature donkey gelding was evaluated for right forelimb lameness of 7 weeks' duration.

Clinical Findings: Muscular atrophy of the infraspinatus and supraspinatus muscles over the right scapula with a palpable bony prominence over the point of the shoulder was evident. At the walk, the cranial phase of the stride was reduced with adduction of the distal aspect of the limb, dragging of the toe, and lameness (grade, 4/5).

Effect of Bidirectional Insertion of External Skeletal Fixation Pins on Axial Pullout Strength in Canine Cadaveric Bone.

Objective:  The aim of this study was to evaluate the effect of bidirectional insertion on axial pullout strength of tapered run out (TRO), traditional negative profile (TNP) and positive profile (PP) pins.

Study Design:  Cadaveric adult canine tibiae were harvested. Tapered run out pins (Group 1) were inserted unidirectionally to the desired position; bidirectionally past the desired position, then withdrawn to the desired position (Group 2); and bidirectionally as described for Group 2, repeated twice (Group 3).

From Neurosurgical Planning to Histopathological Brain Tumor Characterization: Potentialities of Arcuate Fasciculus Along-Tract Diffusion Tensor Imaging Tractography Measures.

Tractography has been widely adopted to improve brain gliomas' surgical planning and guide their resection. This study aimed to evaluate state-of-the-art of arcuate fasciculus (AF) tractography for surgical planning and explore the role of along-tract analyses for characterizing tumor histopathology. High angular resolution diffusion imaging (HARDI) images were acquired for nine patients with tumors located in or near language areas (age: 41 ± 14 years, mean ± standard deviation; five males) and 32 healthy volunteers (age: 39 ± 16 years; 16 males).

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.

Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%-30%) presenting a rare large-effect variant. However, clinical interpretation in these cases is often complicated by incomplete penetrance, variable expressivity and different neurodevelopmental trajectories. NRXN1 intragenic deletions represent the prototype of such ASD-associated susceptibility variants.

[What does a general practitioner need to know about whooping cough?].

Pertussis (whooping cough) is a vaccine-preventable bacterial infectious disease. Nevertheless, serious cases continue to be reported every year in the paediatric population. Pertussis poses a danger mainly to unimmunized or partially immunized infants under six months of age.

[Computerized clinical decision support for medication in the electronic health record].

Medication prescribing is a critical feature in the electronic health record (EHR). Computerized Clinical Decision Support (CCDS) for medication prescribing has the potential to improve quality of care, patient safety and reduce cost. However, its development, implementation, and maintenance in the clinical environment, are major challenges.

Tibial Apophyseal Percutaneous Pinning in Skeletally Immature Dogs: 25 Cases (2016-2019).

Objective:  The aim of this study was to report the clinical experience with fluoroscopically guided tibial apophyseal percutaneous pinning (TAPP) for tibial tuberosity avulsion fractures (TTAF).

Study Design:  This is a retrospective case series.

Materials And Methods:  Medical records of skeletally immature dogs ( = 25) were reviewed.

Evaluation of serum MMP-2 and MMP-3, synovial fluid IL-8, MCP-1, and KC concentrations as biomarkers of stifle osteoarthritis associated with naturally occurring cranial cruciate ligament rupture in dogs.

The purpose of this study was to evaluate matrix metalloproteinases (MMP) -2 and MMP-3 in serum, and keratinocyte-derived chemoattractant (KC), interleukin 8 (IL-8) and monocyte chemoattractant 1 (MCP-1) in synovial fluid (SF) as stifle osteoarthritis (OA) biomarkers in dogs. Dogs with naturally occurring cranial cruciate ligament (CrCL) rupture (OA group) and healthy controls were recruited. Stifles with CrCL deficiency were surgically stabilized.

Infrared spectroscopy of synovial fluid as a potential screening approach for the diagnosis of naturally occurring canine osteoarthritis associated with cranial cruciate ligament rupture.

Objective: To evaluate infrared (IR) spectroscopy of synovial fluid (SF) as tool to differentiate between knees of dogs with naturally occurring OA associated with cranial cruciate ligament rupture (CrCLR) and controls.

Method: 104 adult dogs with CrCLR (affected group) and 50 adult control dogs were recruited in a prospective observational study. Synovial fluid (SF) samples were collected preoperatively from dogs with CrCLR and from a subset of these at 4-, and 12-week post-surgery.

Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old.

We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings in routine magnetic resonance imaging (MRI) scans of a group of 117 ASD children younger than 5 years old. These data were compared to those reported in typically developing (TD) children.