RICTOR variants are associated with neurodevelopmental disorders.

RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.

Personal attenuation ratings versus derated noise reduction ratings for hearing protection devices.

National and international regulatory and consensus standards setting bodies have previously proposed derating hearing protector ratings to provide a better match between ratings determined in a laboratory and the real-world measurements of attenuation for workers. The National Institute for Occupational Safety and Health has proposed a derating scheme that depends upon the type of protector. This paper examines four real-world studies where personal attenuation ratings (PARs) were measured at least twice, before and after an intervention in earplug fitting techniques.

The Effect of Using an Active Earmuff on High Frequency Hearing in United States Marine Corps Weapons Instructors.

Objectives: To investigate the change in hearing and perceived comfort over 1 year related to using an active hearing protection device (HPD) among United States Marine Corps (USMC) personnel routinely exposed to hazardous noise.

Methods: USMC Weapons Instructors (n = 127) were issued an active earmuff that met military standards and was compatible with other protective equipment. These participants completed pre- and post-hearing tests and comfort surveys.

How hearing conservation training format impacts personal attenuation ratings in U.S. Marine Corps Training Recruits.

Objective: The purpose of this fit-testing study in the field was to systematically compare three Hearing Protection Device (HPD) fit-training methods and determine whether they differ in the acquisition of HPD fitting skill and resulting amount of earplug attenuation.

Design: Subjects were randomly assigned to receive HPD fit-training using one of three training methods: , (eHPD), and . Personal Attenuation Ratings (PARs) were acquired via HPD fit-testing and used to verify attenuations pre- and post-training.

Exploring the need for and application of human factors and ergonomics in ambulance design: Overcoming the barriers with technical standards.

Ergonomic risk factors, such as excessive physical effort, awkward postures or repetitive movements, were the leading causes of injuries amongst EMS workers in the United States, of which 90% were attributed to lifting, carrying, or transferring a patient and/or equipment. Although the essential tasks of patient handling, transport, and care cannot be eliminated, the design of ambulances and associated equipment is modifiable. Our aims were to identify the extent of Human Factors and Ergonomic (HFE) considerations in existing ambulance design standards/regulations, and describe how HFE and the standards/regulations were applied in the EMS system.

POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.

Objective: FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations.

Methods: We compiled 34 patients with a heterozygous (likely) pathogenic variant.

What do parents expect from a genetic diagnosis of their child with intellectual disability?

Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families.

Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194 parents whose children with intellectual disability were undergoing a genetic diagnostic workup.

Defining Normal Balance for Army Aviators.

Introduction: One challenge clinicians face is determining when a military Service Member (SM) can return to duty after an injury that affects the postural control. The gold standard to measure postural control is the Sensory Organization Test (SOT). This test measures the amount of sway present in an individual's static stance that may be used to examine range of function and monitor recovery from injury.

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis.

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS).

Hearing Loss and Tinnitus in Military Personnel with Deployment-Related Mild Traumatic Brain Injury.

The objective of this study was to analyze differences in incidence and epidemiologic risk factors for significant threshold shift (STS) and tinnitus in deployed military personnel diagnosed with mild traumatic brain injury (mTBI) due to either a blast exposure or nonblast head injury. A retrospective longitudinal cohort study of electronic health records of 500 military personnel (456 met inclusion criteria) diagnosed with deployment-related mTBI was completed. Chi-square tests and STS incidence rates were calculated to assess differences between blast-exposed and nonblast groups; relative risks and adjusted odds ratios of developing STS or tinnitus were calculated for risk factors.

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Intellectual disability (ID) with cerebellar ataxia comprises a genetically heterogeneous group of neurodevelopmental disorders. We identified a homozygous frameshift mutation in CWF19L1 (c.467delC; p.

Oligoclonal bands predict multiple sclerosis in children with optic neuritis.

We retrospectively evaluated predictors of conversion to multiple sclerosis (MS) in 357 children with isolated optic neuritis (ON) as a first demyelinating event who had a median follow-up of 4.0 years. Multiple Cox proportional-hazards regressions revealed abnormal cranial magnet resonance imaging (cMRI; hazard ratio [HR] = 5.

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

Small interstitial deletions affecting chromosome region 3p25.3 have been reported in only five patients so far, four of them with overlapping telomeric microdeletions 3p25.3 and variable features of 3p- syndrome, and one patient with a small proximal microdeletion and a distinct phenotype with intellectual disability (ID) and multiple congenital anomalies.