Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.

Fragile X syndrome (FXS) is a rare neurodevelopmental disorder caused by a CGG repeat expansion ≥ 200 repeats in 5' untranslated region of the FMR1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. A recent phase 2a clinical trial testing BPN14770, a phosphodiesterase 4D inhibitor, showed improved cognition in 30 adult males with FXS on drug relative to placebo. The initial study found significant improvements in clinical measures assessing cognition, language, and daily functioning in addition to marginal improvements in electroencephalography (EEG) results for the amplitude of the N1 event-related potential (ERP) component.

Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile x syndrome.

Fragile X syndrome (FXS) is a rare neurodevelopmental disorder caused by a CGG repeat expansion ≥ 200 repeats in 5' untranslated region of the FMR1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. A recent phase 2a clinical trial testing BPN14770, a phosphodiesterase 4D inhibitor, showed improved cognition in 30 adult males with FXS on drug relative to placebo. The initial study found significant improvements in clinical measures assessing cognition, language, and daily functioning in addition to marginal improvements in electroencephalography (EEG) results for the amplitude of the N1 event-related potential (ERP) component.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.

Purpose: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients.

Design: Retrospective study of imaging data (55-degree blue-FAF on Heidelberg Spectralis) from patients.

Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone FAF 55-degree imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital (RLH) between 2004 and 2019.

The vertical computerized rotational head impulse test.

The computerized rotational head impulse test (crHIT) uses a computer-controlled rotational chair to deliver whole-body rotational impulses to assess the semicircular canals. The crHIT has only been described for horizontal head plane rotations. The purpose of this study was to describe the crHIT for vertical head plane rotations.

Balance strategies for recovery from perturbed overground walking.

Bipedal locomotion is naturally unstable and requires active control. Walking is believed to be primarily stabilized through the selection of foot placements; however, other strategies are available, including regulation of ankle inversion/eversion, ankle push-off, and angular momentum through trunk postural adjustments. The roles of these strategies in maintaining overall stability are often masked by the dominant foot placement strategy.

Head and vestibular kinematics during vertical semicircular canal impulses.

Background: The video head impulse test (vHIT) is a common assessment of semicircular canal function during high-speed impulses. Reliability of the vHIT for assessing vertical semicircular canals is uncertain. Vertical head impulses require a complex head movement, making it difficult to isolate a single semicircular canal and interpret resulting eye rotations.

The Psychometric Properties of the 9-Item Vestibular Activities Avoidance Instrument.

Objective: The purpose of this study was to establish the psychometric properties of the 9-Item Vestibular Activities Avoidance Instrument (VAAI-9), a patient-reported outcome measure developed to identify fear avoidance beliefs in persons with vestibular disorders.

Methods: This prospective cohort study included 100 participants 18 years and older seeking care at a balance disorders clinic for dizziness. Participants completed the VAAI-9, the Dizziness Handicap Inventory (DHI), and other patient-reported outcomes at the initial visit and the 3-month follow-up.

A long-acting GDF15 analog causes robust, sustained weight loss and reduction of food intake in an obese nonhuman primate model.

Growth Differentiation Factor-15 (GDF15) is a circulating polypeptide linked to cellular stress and metabolic adaptation. GDF15's half-life is ~3 h and activates the glial cell line-derived neurotrophic factor family receptor alpha-like (GFRAL) receptor expressed in the area postrema. To characterize sustained GFRAL agonism on food intake (FI) and body weight (BW), we tested a half-life extended analog of GDF15 (Compound H [CpdH]) suitable for reduced dosing frequency in obese cynomolgus monkeys.

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Introduction: Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by molecular genetic testing is the first step towards effective care and patient management. However, genetic diagnosis is currently slow, expensive and not widely accessible.

Rating of perceived difficulty scale for measuring intensity of standing balance exercises in individuals with vestibular disorders.

Background: A method for prescribing the difficulty or intensity of standing balance exercises has been validated in a healthy population, but requires additional validation in individuals with vestibular disorders.

Objective: This study validated the use of ratings of perceived difficulty for estimation of balance exercise intensity in individuals with vestibular disorders.

Methods: Eight participants with a confirmed diagnosis of a vestibular disorder and 16 healthy participants performed two sets of 16 randomized static standing exercises across varying levels of difficulty.

Acute unilateral vestibulopathy/vestibular neuritis: Diagnostic criteria.

This paper describes the diagnostic criteria for Acute Unilateral Vestibulopathy (AUVP), a synonym for vestibular neuritis, as defined by the Committee for the Classification of Vestibular Disorders of the Bárány Society. AUVP manifests as an acute vestibular syndrome due to an acute unilateral loss of peripheral vestibular function without evidence for acute central or acute audiological symptoms or signs. This implies that the diagnosis of AUVP is based on the patient history, bedside examination, and, if necessary, laboratory evaluation.

Vestibular Rehabilitation for Peripheral Vestibular Hypofunction: An Updated Clinical Practice Guideline From the Academy of Neurologic Physical Therapy of the American Physical Therapy Association.

Background: Uncompensated vestibular hypofunction can result in symptoms of dizziness, imbalance, and/or oscillopsia, gaze and gait instability, and impaired navigation and spatial orientation; thus, may negatively impact an individual's quality of life, ability to perform activities of daily living, drive, and work. It is estimated that one-third of adults in the United States have vestibular dysfunction and the incidence increases with age. There is strong evidence supporting vestibular physical therapy for reducing symptoms, improving gaze and postural stability, and improving function in individuals with vestibular hypofunction.

Vestibular migraine: Diagnostic criteria1.

This paper presents diagnostic criteria for vestibular migraine, jointly formulated by the Committee for Classification of Vestibular Disorders of the Bárány Society and the Migraine Classification Subcommittee of the International Headache Society (IHS). It contains a literature update while the original criteria from 2012 were left unchanged. The classification defines vestibular migraine and probable vestibular migraine.

Utility of a Postural Stability/Perceptual Inhibition Dual Task for Identifying Concussion in Adolescents.

Context: Research in the area of dual-task paradigms to assess sport-related concussion (SRC) status is growing, but additional assessment of this paradigm in adolescents is warranted.

Design: This case-control study compared 49 adolescent athletes aged 12-20 years with diagnosed SRC to 49 age- and sex-matched controls on visual-spatial discrimination and perceptual inhibition (PIT) reaction time tasks performed while balancing on floor/foam pad conditions.

Methods: The SRC group completed measures at a single time point between 1 and 10 days postinjury.

Fear Avoidance Beliefs Are Associated With Perceived Disability in Persons With Vestibular Disorders.

Objective: The purpose of this study was to determine the association between fear-avoidance beliefs and disability in 3 months in people with vestibular disorders while accounting for demographic and clinical characteristics.

Methods: This prospective cohort study included people aged 18 to 100 years who reported dizziness. Participants were recruited from a balance disorders clinic and outpatient physical therapy clinics.

Motion sickness diagnostic criteria: Consensus Document of the Classification Committee of the Bárány Society.

We present diagnostic criteria for motion sickness, visually induced motion sickness (VIMS), motion sickness disorder (MSD), and VIMS disorder (VIMSD) to be included in the International Classification of Vestibular Disorders. Motion sickness and VIMS are normal physiological responses that can be elicited in almost all people, but susceptibility and severity can be high enough for the response to be considered a disorder in some cases. This report provides guidelines for evaluating signs and symptoms caused by physical motion or visual motion and for diagnosing an individual as having a response that is severe enough to constitute a disorder.

ASSOCIATION BETWEEN EATING HABITS AND PHYSICAL ACTIVITY IN PRIMARY SCHOOL STUDENTS.

Objective: The aim: The study aimed to assess the association between the physical activity level and eating habits of primary school students.

Patients And Methods: Material and methods: 139 children attending one of the Polish primary school or football school were included. The research tool was author's anonymous survey.

Exploratory Factor Analysis of the Vestibular Activities Avoidance Instrument.

Importance: Fear avoidance is a behavioral response to dizziness that can lead to chronic symptoms and maladaptation of the vestibular system, but there is no valid and reliable clinical measure of fear avoidance for persons with dizziness. Although the Vestibular Activities Avoidance Instrument (VAAI) was developed to identify fear avoidance beliefs in persons with dizziness, it was considered too long for clinical use.

Objective: To continue development of the VAAI for clinical use by reducing its length and by assessing the internal consistency and construct validity through associations with measures of disability, quality of life, and psychological well-being.

ASSESSMENT OF ADULT EATING HABITS IN THE NUTRITIONAL PREVENTION OF STROKE.

Objective: Introduction: Lifestyle modification, including changing eating habits, plays an essential role in the prevention of stroke. The aim: The study aimed to assess the nutritional prevention of cerebrovascular diseases in adult inhabitants of Poland.

Patients And Methods: Material and Methods: The study was conducted using the author's questionnaire among 145 women and 76 men, aged 18 - 30 (53.

Childhood maltreatment and impact on clinical features of major depression in adults.

Objectives: This study examined: 1) the prevalence of childhood maltreatment (CMT) in individuals with chronic and/or recurrent depression, 2) the association between CMT and depressive symptoms, 3) the link between CMT and worse clinical presentation of depression, 4) the effects of accumulation of different types of CMT, and 5) the relationship between the age at CMT and depression.

Methods: We analyzed the baseline data of 663 individuals from the CO-MED study. CMT was determined by a brief self-reported questionnaire assessing sexual abuse, emotional abuse, physical abuse, and neglect.

The mediterranean diet in the prevention of cardiovascular and nervous system diseases - the assessment of nutritional knowledge.

Objective: Introduction: Following a Mediterranean diet significantly reduces the risk of cardiovascular and neurodegenerative diseases. The aim of the study was to assess nutritional knowledge among adult residents of the Silesian Province on the Mediterranean diet in the prevention of cardiovascular and nervous system diseases.

Patients And Methods: Material and methods: The study was conducted using an anonymous self-made questionnaire.