Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing.

Background: MAGEL2 is an autism susceptibility gene whose deficiency has been associated with autism-related behaviors in animal models and in syndromic human autism spectrum disorders (ASDs) such as Schaaf-Yang syndrome, but has not been studied in the broader autism spectrum. Given the capabilities of long-read sequencing technologies, this pilot study used a targeted nanopore sequencing approach to simultaneously examine MAGEL2 DNA sequence and methylation in adults with high-functioning autism (HFA) compared to neurotypical controls (NC).

Methods: Using DNA extracted from peripheral blood, Cas9-targeted nanopore DNA sequencing was used to analyze MAGEL2, including its entire regulatory construct (chr15:23639316-23651466), for sequence variation and 5-methyl-cytosine (5mC) modification in a cohort of adults with HFA compared to sex- and age-matched NC.

Comprehensive assessment and progression of health status during neurorehabilitation in survivors of critical illness: a prospective cohort study.

Background: Critical illness survivors frequently suffer from long-term impairments, often described as post-intensive care syndrome (PICS). PICS encompasses physical, cognitive, and mental impairments. Additionally, the term intensive care unit (ICU)-acquired weakness (ICUAW) was coined for muscle weakness after critical illness.

Clinical phenotype and management of sound-induced pain: Insights from adults with pain hyperacusis.

Pain hyperacusis, also known as noxacusis, causes physical pain in response to sounds that do not bother most people. How sound causes excruciating pain that can last for weeks or months is not well understood, resulting in a lack of effective treatments. To gain insight into the underlying mechanisms of the condition, 32 adults attended a virtual focus group to describe their sound-induced pain.

Stimulation of the withdrawal reflex in gait training after stroke: A systematic review and meta-analysis.

Background: After a stroke many people experience hemiparesis, resulting in walking difficulties which affects independence, mobility, and participation in activities of daily living. Activating the nociceptive withdrawal reflex (NWR) during gait training aims to support the initiation and facilitation of the swing phase of the paretic leg. The aim of this review is to investigate the orthotic and therapeutic effects of a NWR stimulation intervention to improve gait in patients after a stroke.

Impact of cannabinoids on synapse markers in an SH-SY5Y cell culture model.

Patients suffering from schizophrenic psychosis show reduced synaptic connectivity compared to healthy individuals, and often, the use of cannabis precedes the onset of schizophrenic psychosis. Therefore, we investigated if different types of cannabinoids impact methylation patterns and expression of schizophrenia candidate genes concerned with the development and preservation of synapses and synaptic function in a SH-SY5Y cell culture model. For this purpose, SH-SY5Y cells were differentiated into a neuron-like cell type as previously described.

Mobile Spatiotemporal Gait Segmentation Using an Ear-Worn Motion Sensor and Deep Learning.

Mobile health technologies enable continuous, quantitative assessment of mobility and gait in real-world environments, facilitating early diagnoses of gait disorders, disease progression monitoring, and prediction of adverse events like falls. Traditionally, mobile gait assessment predominantly relied on body-fixed sensors positioned at the feet or lower trunk. Here, we investigate the potential of an algorithm utilizing an ear-worn motion sensor for spatiotemporal segmentation of gait patterns.

Audiometric Profiles Across a Clinical Population of Children With Hyperacusis.

Purpose: Hyperacusis (sound sensitivity) is well documented among adults, but little is known about hyperacusis in children. Here, we assess relationships among the presence of hyperacusis, audiometric profiles, and nonauditory factors in a pediatric clinical population.

Method: A retrospective review of clinical records from 329 children, ages 2-17 years, was performed to assess the prevalence of hyperacusis and correlations among hearing status, behavioral or communication concerns, and the presence of hyperacusis.

Cochlear-implant simulated spectral degradation attenuates emotional responses to environmental sounds.

Objective: Cochlear implants (CI) provide users with a spectrally degraded acoustic signal that could impact their auditory emotional experiences. This study evaluated the effects of CI-simulated spectral degradation on emotional valence and arousal elicited by environmental sounds.

Design: Thirty emotionally evocative sounds were filtered through a noise-band vocoder.

Pneumococcal Neuraminidases Increase Platelet Killing by Pneumolysin.

Background:  Platelets prevent extravasation of capillary fluids into the pulmonary interstitial tissue by sealing gaps in inflamed endothelium. This reduces respiratory distress associated with pneumonia. is the leading cause of severe community-acquired pneumonia.

Bronchoscopy with and without needle-based confocal laser endomicroscopy for peripheral lung nodule diagnosis: protocol for a multicentre randomised controlled trial (CLEVER trial).

Introduction: Despite many technological advances, the diagnostic yield of bronchoscopic peripheral lung nodule analysis remains limited due to frequent mispositioning. Needle-based confocal laser endomicroscopy (nCLE) enables real-time microscopic feedback on needle positioning, potentially improving the sampling location and diagnostic yield. Previous studies have defined and validated nCLE criteria for malignancy, airway and lung parenchyma.

Clinical phenotype and management of sound-induced pain: Insights from adults with pain hyperacusis.

Pain hyperacusis, also known as noxacusis, causes physical pain in response to everyday sounds that do not bother most people. How sound causes excruciating pain that can last for weeks or months in otherwise healthy individuals is not well understood, resulting in a lack of effective treatments. To address this gap, we identified the most salient physical and psychosocial consequences of debilitating sound-induced pain and reviewed the interventions that sufferers have sought for pain relief to gain insights into the underlying mechanisms of the condition.

Sensory Stimulation and Robot-Assisted Arm Training After Stroke: A Randomized Controlled Trial.

Background And Purpose: Functional recovery after stroke is often limited, despite various treatment methods such as robot-assisted therapy. Repetitive sensory stimulation (RSS) might be a promising add-on therapy that is thought to directly drive plasticity processes. First positive effects on sensorimotor function have been shown.

Precision Balance Assessment in Parkinson's Disease: Utilizing Vision-Based 3D Pose Tracking for Pull Test Analysis.

Postural instability is a common complication in advanced Parkinson's disease (PD) associated with recurrent falls and fall-related injuries. The test of retropulsion, consisting of a rapid balance perturbation by a pull in the backward direction, is regarded as the gold standard for evaluating postural instability in PD and is a key component of the neurological examination and clinical rating in PD (e.g.

Balance function in critical illness survivors and evaluation of psychometric properties of the Mini-BESTest.

Critical illness survivors commonly face impairments, such as intensive care unit-acquired weakness (ICUAW) which is characterized by muscle weakness and sensory deficits. Despite these symptoms indicating potential balance deficits, systematic investigations and validated assessments are lacking. Therefore, we aimed to assess balance function using the Mini-BESTest, evaluate its psychometric properties, and identify associated variables.

Outcome, predictors and longitudinal trajectories of subjects with critical illness polyneuropathy and myopathy (CINAMOPS): study protocol of an observational cohort study in a clinical and post-clinical setting.

Introduction: Critical illness polyneuropathy and myopathy (CIP/CIM) are frequent complications in the intensive care unit (ICU) with major consequences for the progress and outcome of subjects. CIP/CIM delays the weaning process, prolongs the hospital stay and increases the mortality rate. Additionally, it may have long-term consequences beyond the hospitalisation phase with prolonged disability.

[Cryobiopsies for the differentiation of interstitial pneumopathies].

Cryobiopsies for the differentiation of interstitial pneumopathies Abstract: Definitive diagnosis of interstitial pneumopathy is often difficult. In order to establish antifibrotic therapy, it is necessary to narrow down the aetiology and, in up to 40% of cases, obtain histological confirmation. The establishment of the endoscopic method of cryobiopsy achieves a diagnostic yield of 76-80% with significantly fewer complications compared to surgical lung biopsy.

Which Comprehensive Geriatric Assessment (CGA) instruments are currently used in Germany: a survey.

Background: The Comprehensive Geriatric Assessment (CGA) records geriatric syndromes in a standardized manner, allowing individualized treatment tailored to the patient's needs and resources. Its use has shown a beneficial effect on the functional outcome and survival of geriatric patients. A recently published German S1 guideline for level 2 CGA provides recommendations for the use of a broad variety of different assessment instruments for each geriatric syndrome.

Cervical and thoracic spinal cord gray matter atrophy is associated with disability in patients with amyotrophic lateral sclerosis.

Background And Purpose: In amyotrophic lateral sclerosis (ALS), there is an unmet need for more precise patient characterization through quantitative, ideally operator-independent, assessments of disease extent and severity. Radially sampled averaged magnetization inversion recovery acquisitions (rAMIRA) magnetic resonance imaging enables gray matter (GM) and white matter (WM) area quantitation in the cervical and thoracic spinal cord (SC) with optimized contrast. We aimed to investigate rAMIRA-derived SC GM and SC WM areas and their association with clinical phenotype and disability in ALS.

Case report: Fatal Borna virus encephalitis manifesting with basal brain and brainstem symptoms.

Background: Since the first report of fatal Borna virus-1 (BoDV-1) encephalitis in 2018, cases gradually increased. There is a lack of diagnostic algorithm, and there is no effective treatment so far.

Case Presentation: We report an acute BoDV-1 encephalitis in a 77-year-old female with flu-like onset, rapid progression to word-finding difficulties, personality changes, global disorientation, diffuse cognitive slowness, and gait ataxia and further deterioration with fever, meningism, severe hyponatremia, epileptic seizures, cognitive decline, and focal cortical and cerebellar symptoms/signs.

Reduced health-related quality of life, fatigue, anxiety and depression affect COVID-19 patients in the long-term after chronic critical illness.

The term chronic critical illness describes patients suffering from persistent organ dysfunction and prolonged mechanical ventilation. In severe cases, COVID-19 led to chronic critical illness. As this population was hardly investigated, we evaluated the health-related quality of life, physical, and mental health of chronically critically ill COVID-19 patients.

Severe Post-COVID-19 Condition after Mild Infection: Physical and Mental Health Eight Months Post Infection: A Cross-Sectional Study.

Severe acute COVID-19 infections requiring intensive care treatment are reported risk factors for the development of post-COVID-19 conditions. However, there are also individuals suffering from post-COVID-19 symptoms after mild infections. Therefore, we aimed to describe and compare the health status of patients who were initially not hospitalized and patients after critical illness due to COVID-19.