Direct 3D-printed ring-resonator photonic circuit on a dual core fiber tip for remote sensing applications.

On-chip optical sensors using ring- and disk-resonators have many potential sensing applications, yet robust and efficient fiber-to-chip coupling and the differing form factor between the two pose deployment challenges. To resolve this, we 3D-printed a ring-resonator onto the tip of a dual-core fiber and demonstrate its use as a remote temperature sensor. The fiber-tip optical circuit is fabricated using direct laser writing (DLW) with two-photon absorption photopolymer material IP-Dip, forming micrometer-scale waveguide cores having a refractive index of 1.

Emotional processing is not enough: relations among resilience, emotional approach coping, and posttraumatic stress symptoms among combat veterans.

Combat soldiers are exposed to various potentially traumatic events and face high risk of developing military-related psychopathology, such as depression, posttraumatic stress and grief (PTSS). However, a strong body of research shows that resilience is the default in the aftermath of trauma and indeed, many veterans do not develop high symptomatic levels. To explicate this inconsistency, the current study examined the associations among PTSS, resilience, and patterns of emotional-approach coping.

Free-standing microscale photonic lantern spatial mode (De-)multiplexer fabricated using 3D nanoprinting.

Photonic lantern (PL) spatial multiplexers show great promise for a range of applications, such as future high-capacity mode division multiplexing (MDM) optical communication networks and free-space optical communication. They enable efficient conversion between multiple single-mode (SM) sources and a multimode (MM) waveguide of the same dimension. PL multiplexers operate by facilitating adiabatic transitions between the SM arrayed space and the single MM space.

Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?

Unlabelled: Both Neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are RASopathies. Characteristic cardiac phenotypes of NS, including specific electrocardiographic changes, pulmonary valve stenosis and hypertrophic cardiomyopathy have not been completely studied in NF1.

Purpose: The aims of this study were to assess: (1) similarities in the prevalence and types of ECG and conventional echocardiographic findings described in NS in asymptomatic patients with NF1, and (2) the presence of discrete myocardial dysfunction in NF1 patients using myocardial strain imaging.

Numerical values modulate size perception.

The link between various codes of magnitude and their interactions has been studied extensively for many years. In the current study, we examined how the physical and numerical magnitudes of digits are mapped into a combined mental representation. In two psychophysical experiments, participants reported the physically larger digit among two digits.

Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with the C9orf72 repeat expansion being the most common genetic cause. While the prevalence of C9orf72-ALS in patients from different populations has been studied, data regarding the yield of C9orf72 compared to an ALS gene panel testing is limited.

"My Scar": Posttraumatic Loneliness as a Source of Pain and Resource for Coping.

Contemporary understanding of combat trauma's psychological effects emphasizes the interpersonal ways survivors process their experiences. Yet cases of incongruence between survivors who want to share their traumatic experience and close others who are not ready to take part in this challenging task are common. Hence, many trauma survivors are compelled to cope with the posttraumatic consequences mostly alone.

Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants.

Utility of genetic testing in children with leukodystrophy.

Background: Leukodystrophies are monogenic disorders primarily affecting the white matter. We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective cohort of children with suspected leukodystrophy.

Methods: Medical records of patients who attended the leukodystrophy clinic at the Dana-Dwek Children's Hospital between June 2019 and December 2021 were retrieved.

Transformative Leadership Training in Medical Education: A Topology.

Efforts to improve medical education often focus on optimizing technical aspects of teaching and learning. However, without considering the connection between the pedagogical-curricular and the foundational philosophically-defined educational aims of medicine and medical education, critical system reform is unlikely. The transformation of medical education requires leaders uniquely prepared to view medicine and medical education critically as it is and as it ought to be, and who have the capacity to lead changes aimed at overcoming the identified gaps.

Biallelic loss of EMC10 leads to mild to severe intellectual disability.

The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants.

Risk Factors for SARS-CoV-2 Infection and Illness in Cats and Dogs.

We tested swab specimens from pets in households in Ontario, Canada, with human COVID-19 cases by quantitative PCR for SARS-CoV-2 and surveyed pet owners for risk factors associated with infection and seropositivity. We tested serum samples for spike protein IgG and IgM in household pets and also in animals from shelters and low-cost neuter clinics. Among household pets, 2% (1/49) of swab specimens from dogs and 7.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca pumps that participate in the regulation of intracellular free Ca. Here, we clinically describe a cohort of 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay.

Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.

Objective: Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major CNS anomaly.

Methods: This was a retrospective study of 114 cases referred for genetic evaluation following termination of pregnancy (TOP) due to a major CNS anomaly detected on prenatal ultrasound.

Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.

Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggesting contributions of other modifiers in addition to somatic loss of NF1. In this study, we investigated a life-threatening plexiform neurofibroma in a 9-month-old female infant with NF1.

Effects of inflammatory stimuli on responses of macrophages to Mycoplasma bovis infection.

Inflammation in the respiratory tract is thought to worsen the disease response to Mycoplasma bovis infection. This study investigated the cells involved in this response with a focus on proteases and cytokines as harmful effector mechanisms. By immunohistochemistry, Mac387-positive macrophages were the main cell type comprising the foci of caseous necrosis in cattle with M.

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Genetic alterations in COL4A2 are less common than those of COL4A1 and their fetal phenotype has not been described to date. We describe a three-generation family with an intragenic deletion in COL4A2 associated with a prenatal diagnosis of recurrent fetal intracerebral hemorrhage (ICH), and a myriad of cerebrovascular manifestations. Exome sequencing, co-segregation analysis, and imaging studies were conducted on eight family members including two fetuses with antenatal ICH.

Clinical Features and Comparison of Kingella and Non-Kingella Endocarditis in Children, Israel.

Kingella spp. have emerged as an important cause of invasive pediatric diseases. Data on Kingella infective endocarditis (KIE) in children are scarce.

The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?

Diagnosis of rare copy number variants (CNVs) with scarce literature evidence poses a major challenge for interpretation of the clinical significance of chromosomal microarray analysis (CMA) results, especially in the prenatal setting. Bioinformatic tools can be used to assist in this issue; however, this prediction can be imprecise. Our objective was to describe the phenotype of the rare copy number losses encompassing the 8q24.

Genetics of tuberous sclerosis complex: an update.

Purpose: To review the current genetic aspects of tuberous sclerosis complex.

Methods: Review of the literature.

Results: Tuberous sclerosis complex (TSC), a long known childhood-onset monogenic disorder, characterized by hamartoma formation affecting mainly the brain, heart, kidney, lung, and skin, is associated with a high morbidity burden and risk of a reduced life span.