Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

The CSF1R gene, located on chromosome 5, encodes a 108 kDa protein and plays a critical role in regulating myeloid cell function. Mutations in CSF1R have been identified as a cause of a rare white matter disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP, also known as CSF1R-related leukoencephalopathy), characterized by progressive neurological dysfunction. This study aimed to broaden the genetic basis of ALSP by identifying novel CSF1R variants in patients with characteristic clinical and imaging features of ALSP.

Telemedicine Beyond Borders: A Mixed-Methods Approach to Understanding Cross-National Usage Intention.

Drawing on the Unified Theory of Acceptance and Use of Technology 2 and the Diffusion of Innovation Theory, this article investigates the adoption of telemedicine services from a patient perspective in Germany, Spain, and the United States using a mixed-methods approach. Digital health technologies have the potential to improve access to care and to alleviate the burden on traditional health care systems and are becoming more integrated into everyday medicine. Therefore, understanding the factors that impact patients' intentions to use telemedicine is crucial to ensure successful development.

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.

Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with severe cognitive and motor impairment. In this study, a homozygous and a heterozygous CSF1R knockout induced pluripotent stem cell (iPSC) line were generated by CRISPR/Cas9-based gene editing. These in vitro models will provide a helpful tool for investigating the still largely unknown pathophysiology of CSF1R-related leukoencephalopathy.

High Sensitivity Near-Infrared Imaging of Fluorescent Nanosensors.

Biochemical processes are fast and occur on small-length scales, which makes them difficult to measure. Optical nanosensors based on single-wall carbon nanotubes (SWCNTs) are able to capture such dynamics. They fluoresce in the near-infrared (NIR, 850-1700 nm) tissue transparency window and the emission wavelength depends on their chirality.

Human-Robot Collaboration in Industrial Automation: Sensors and Algorithms.

Technology is changing the manufacturing world [...

Interdependencies of cellular and humoral immune responses in heterologous and homologous SARS-CoV-2 vaccination.

Background: Homologous and heterologous SARS-CoV-2 vaccinations yield different spike protein-directed humoral and cellular immune responses. This study aimed to explore their currently unknown interdependencies.

Methods: COV-ADAPT is a prospective, observational cohort study of 417 healthcare workers who received vaccination with homologous ChAdOx1 nCoV-19, homologous BNT162b2 or with heterologous ChAdOx1 nCoV-19/BNT162b2.

Modifying UTAUT2 for a cross-country comparison of telemedicine adoption.

The ongoing COVID19 pandemic has put digital health technologies in the spotlight. To gain a deeper understanding of patients' usage intentions of virtual doctor appointments, the present research adapts the Unified Theory of Acceptance and Use of Technology 2 (UTAUT2) by integrating perceived security and perceived product advantage, two known barriers to successful telemedicine adoption. Applying age-stratified sampling, an online survey was distributed to 800 citizens in Germany and the United States of America.

NO Synthesis in Immune-Challenged Locust Hemocytes and Potential Signaling to the CNS.

Similar to vertebrates, insects are exposed to a broad variety of pathogens. The innate insect immune system provides several response mechanisms such as phagocytosis, melanization, and the synthesis of antimicrobial or cytotoxic compounds. The cytotoxic nitric oxide (NO), which is also a neurotransmitter, is involved in the response to bacterial infections in various insects but has rarely been shown to be actually produced in hemocytes.

Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review.

Developmental Neurotoxicity of Fipronil and Rotenone on a Human Neuronal In Vitro Test System.

Pesticide exposure during in utero and early postnatal development can cause a wide range of neurological defects. However, relatively few insecticides have been recognized as developmental neurotoxicants, so far. Recently, discovery of the insecticide, fipronil, in chicken eggs has raised public concern.

Are Health e-Mavens the New Patient Influencers?

Even though the healthcare industry is usually considered a rather traditional and slowly evolving sector, change is happening. Digitalization is transforming the way of obtaining medical advice and treatment and the Internet has become a key source for the seeking of healthcare information. It has allowed people to turn into more active collaborators in matters of their own health by enabling them to easily search and share information with other patients.

Is MGMT promoter methylation to be considered in the decision making for recurrent surgery in glioblastoma patients?

Objectives: At present, there is no standard therapy approved for recurrent glioblastoma (rGB). In particular, the counselling of patients with an unmethylated O-methylguanine-DNA methyltransferase (MGMT) promoter GB remains a challenge. Our aim was to compare the overall survival (OS) and progression free survival (PFS) in patients treated surgically and non-surgically at the time of GB recurrence.

Transvascular therapy of Hepatocellular Carcinoma (HCC), status and developments.

Hepatocellular carcinoma (HCC) is the fifth most common cancer worldwide. Only 30-40% of patients diagnosed with HCC are candidates for curative treatment options. The remaining majority of patients undergo local, regional or systemic palliative therapies.

Development of an open-source cosimulation method of the knee.

Rigid body dynamics and soft tissue loads are solved simultaneously in a cosimulation framework to couple musculoskeletal dynamics and tissue mechanics. The goal of this work was to implement a validated, open-source cosimulation framework of the knee to determine how this coupling affects computed cartilage loads. The kinematic knee joint of a generic whole body model in the open-source software OpenSim was replaced by a previously developed discrete element knee model that consisted of a six degree of freedom (dof) tibiofemoral joint and one dof patellofemoral joint.

Development of an Open-Source, Discrete Element Knee Model.

Objective: Biomechanical modeling is an important tool in that it can provide estimates of forces that cannot easily be measured (e.g., soft tissue loads).

Comparison of hierarchical and six degrees-of-freedom marker sets in analyzing gait kinematics.

The objective of this study was to determine how marker spacing, noise, and joint translations affect joint angle calculations using both a hierarchical and a six degrees-of-freedom (6DoF) marker set. A simple two-segment model demonstrates that a hierarchical marker set produces biased joint rotation estimates when sagittal joint translations occur whereas a 6DoF marker set mitigates these bias errors with precision improving with increased marker spacing. These effects were evident in gait simulations where the 6DoF marker set was shown to be more accurate at tracking axial rotation angles at the hip, knee, and ankle.

The measurement of in vivo joint angles during a squat using a single camera markerless motion capture system as compared to a marker based system.

Markerless motion capture may have the potential to make motion capture technology widely clinically practical. However, the ability of a single markerless camera system to quantify clinically relevant, lower extremity joint angles has not been studied in vivo. Therefore, the goal of this study was to compare in vivo joint angles calculated using a marker-based motion capture system and a Microsoft Kinect during a squat.

Evaluation of the plasmatic and parenchymal elution kinetics of two different irinotecan-loaded drug-eluting embolics in a pig model.

Purpose: To evaluate and compare irinotecan elution kinetics of two drug-eluting embolic agents in a porcine model.

Materials And Methods: Embolization of the left liver lobe was performed in 16 domestic pigs, with groups of two receiving 1 mL of DC Bead M1 (70-150 µm) or Embozene TANDEM (75 µm) loaded with 50 mg irinotecan. Irinotecan plasma levels were measured at 0, 10, 20, 30, 60, 120, 180, and 240 minutes after completed embolization and at the time of euthanasia (24 h, 48 h, 72 h, or 7 d).

Does attention bias modification improve attentional control? A double-blind randomized experiment with individuals with social anxiety disorder.

People with anxiety disorders often exhibit an attentional bias for threat. Attention bias modification (ABM) procedure may reduce this bias, thereby diminishing anxiety symptoms. In ABM, participants respond to probes that reliably follow non-threatening stimuli (e.

What predicts the first peak of the knee adduction moment?

Background: The first peak of the knee adduction moment curve during walking has been shown to be a good clinical surrogate measure of medial tibiofemoral joint loading and osteoarthritis. Defining the relative contributions of the variables that dictate the knee adduction moment, such as center of mass, center of pressure, vertical ground reaction force, and knee adduction angle (i.e.

Hepatic artery stent-grafts for the emergency treatment of acute bleeding.

Purpose: We evaluated the technical success and clinical efficacy of stent-graft implantation for the emergency management of acute hepatic artery bleeding.

Methods: Between January 2010 and July 2013, 24 patients with hemorrhage from the hepatic artery were scheduled for emergency implantation of balloon expandable stent-grafts. The primary study endpoints were technical and clinical success, which were defined as successful stent-graft implantation with sealing of the bleeding site at the end of the procedure, and cessation of clinical signs of hemorrhage.

Emergency embolization for the treatment of acute hemorrhage from intercostal arteries.

To evaluate embolotherapy for the emergency management of acute bleeding from intercostal arteries. Between October 2003 and August 2012, 19 consecutive patients with hemorrhage from intercostal arteries were scheduled for emergency embolization. The primary study endpoints were technical and clinical success, which were defined as angiographic cessation of bleeding, and cessation of clinical signs of hemorrhage.

Do novice runners have weak hips and bad running form?

First, we sought to better understand the predisposition of novice female runners to injury by identifying potential differences in running mechanics and strength between experienced female runners and active novice runners. Secondly, we aimed to assess the relationship between hip and trunk strength with non-sagittal hip kinematics during running. Two female populations were recruited: 19 healthy experienced runners and 19 healthy active novice runners.

Assessment of strength, flexibility, and running mechanics in men with iliotibial band syndrome.

Study Design: Cross-sectional laboratory study.

Objectives: To assess differences in hip strength, iliotibial band length, and hip and knee mechanics during running between male runners with iliotibial band syndrome (ITBS) and healthy controls.

Background: Flexibility, strength, and running mechanics are commonly assessed in patients with ITBS.