Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

Acoustic pipette and biofunctional elastomeric microparticle system for rapid picomolar-level biomolecule detection in whole blood.

Most biosensing techniques require complex processing steps that generate prolonged workflows and introduce potential points of error. Here, we report an acoustic pipette to purify and label biomarkers in 70 minutes. A key aspect of this technology is the use of functional negative acoustic contrast particles (fNACPs), which display biorecognition motifs for the specific capture of biomarkers from whole blood.

A clinical audit of the Emergency Department: Doctors' opinions on the diagnosis and management of cervical spine radiculopathy.

Objective: A clinical audit was carried out on the opinions of doctors working in the Emergency Department (ED) of a large urban hospital regarding the diagnosis and management of cervical spine radiculopathy (CSR). Using international guidelines and current research, it aimed to determine if patients attending this ED were diagnosed and managed in line with best practice, and to identify any discrepancies or areas for improvement in relation to this.

Method: Doctors working in this ED were sent an online questionnaire and descriptive analysis was performed on the results to ascertain how they diagnose and manage patients who present with symptoms of CSR.

Prefrontal Cortex Activity During Gait in People With Persistent Symptoms After Concussion.

Background: Concussions result in transient symptoms stemming from a cortical metabolic energy crisis. Though this metabolic energy crisis typically resolves in a month, symptoms can persist for years. The symptomatic period is associated with gait dysfunction, the cortical underpinnings of which are poorly understood.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related to PPFIA3 dysfunction are not yet reported in OMIM. Here, we report 20 individuals with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduced penetrance.

Corrigendum: Intrafamilial variability in -related neurodevelopmental disorders.

[This corrects the article DOI: 10.3389/fnins.2023.

Genotyping and population characteristics of the China Kadoorie Biobank.

The China Kadoorie Biobank (CKB) is a population-based prospective cohort of >512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across China. Detailed data from questionnaires and physical measurements were collected at baseline, with additional measurements at three resurveys involving ∼5% of surviving participants. Analyses of genome-wide genotyping, for >100,000 participants using custom-designed Axiom arrays, reveal extensive relatedness, recent consanguinity, and signatures reflecting large-scale population movements from recent Chinese history.

Intrafamilial variability in -related neurodevelopmental disorders.

Introduction: Phenotypic spectrum of -related neurodevelopmental disorders (-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset, and other neurological features such as hypotonia and movement disorders. Data on familial phenotypic heterogeneity have been rarely reported, thus in our study we aimed to investigate intrafamilial phenotypic variability in families with variants.

Methods: We collected clinical, laboratory and genetic data on 39 individuals, including 17 probands, belonging to 13 families harboring inherited variants of .

A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy.

Objective: We designed a quality improvement (QI) project to improve rates of documented folic acid supplementation counseling for adolescent females with epilepsy, consistent with a quality measure from the American Academy of Neurology and American Epilepsy Society. Our SMART aim was to increase the percentage of visits at which folic acid counseling was addressed from our baseline rate of 23% to 50% by July 1, 2020.

Methods: This initiative was conducted in female patients ≥12 years old with epilepsy who were prescribed daily antiseizure medication and were seen by the 13 providers in our Neurology QI Program.

Workshop, Assessment, and Validity Evidence for Tools Measuring Performance of Knee and Shoulder Arthrocentesis.

Introduction: Musculoskeletal concerns are common, yet residents at our institution lacked arthrocentesis training. We created a workshop to teach residents knee and shoulder arthrocentesis, developed simulated assessment scenarios (SASs) with tools to measure procedural proficiency, and collected validity evidence.

Methods: A multidisciplinary group conducted a modified Delphi to define content for the workshop, SASs, and assessment tools.

Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.

encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport and presynaptic active zone assembly. The protein structure and function are well conserved in both invertebrates and vertebrates, but human diseases related to PPFIA3 dysfunction are not yet known. Here, we report 14 individuals with rare mono-allelic variants presenting with features including developmental delay, intellectual disability, hypotonia, autism, and epilepsy.

Baseline heart rate in infants with prenatal alcohol exposure: A systematic review and independent analysis.

Background: Infants with fetal alcohol syndrome exhibit a range of developmental anomalies, many related to the heart (e.g., decreased heart rate variability).

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied with a canonical transcript that includes the alternatively spliced exon 10b. However, after performing RNA sequencing in 39 pediatric brain samples, we find the primary transcript expressed in the brain includes the downstream exon 10a instead.

COVID-19 Home Monitoring: An Institutional Approach to Bridging Care During a Pandemic.

Coronavirus disease 2019 (COVID-19) has widened patient care gaps and created gaps in medical student clinical training. The care gaps are often most obvious in primary care medicine clinics (PCMCs) where residents and medical students care for a vulnerable population. We designed an outpatient telehealth program to support and monitor PCMC patients who had been diagnosed or were suspected to have COVID-19 and were confined to their homes due to public health mandated isolation.

An ion-paired moxifloxacin nanosuspension eye drop provides improved prevention and treatment of ocular infection.

There are numerous barriers to achieving effective intraocular drug administration, including the mucus layer protecting the ocular surface. For this reason, antibiotic eye drops must be used multiple times per day to prevent and treat ocular infections. Frequent eye drop use is inconvenient for patients, and lack of adherence to prescribed dosing regimens limits treatment efficacy and contributes to antibiotic resistance.

Ultra-thin, high strength, antibiotic-eluting sutures for prevention of ophthalmic infection.

Sutures are applied almost universally at the site of trauma or surgery, making them an ideal platform to modulate the local, postoperative biological response, and improve surgical outcomes. To date, the only globally marketed drug-eluting sutures are coated with triclosan for antibacterial application in general surgery. Loading drug directly into the suture rather than coating the surface offers the potential to provide drug delivery functionality to microsurgical sutures and achieve sustained drug delivery without increasing suture thickness.

Changes in patient visits and diagnoses in a large academic center during the COVID-19 pandemic.

Background: To minimize the risk of viral transmission, ophthalmology practices limited face-to-face encounters to only patients with urgent and emergent ophthalmic conditions in the weeks after the start of the COVID-19 epidemic in the United States. The impact of this is unknown.

Methods: We did a retrospective analysis of the change in the frequency of ICD-10 code use and patient volumes in the 6 weeks before and after the changes in clinical practice associated with COVID-19.

Complex regional pain syndrome - Autoimmune or functional neurologic syndrome.

Complex regional pain syndrome (CRPS) purports to explain extremity pain accompanied by a variety of subjective complaints, including sensitivity to touch, fatigue, burning sensations, allodynia and signs consistent with voluntary immobilization, including skin changes, edema and trophic changes. By its own definition, CRPS pain is disproportionate to any inciting event or underlying pathology, which means that the syndrome describes non-anatomic and exaggerated symptoms. Although CRPS was coined in the early 1990s, physicians have described unexplained exaggerated pain for centuries.

Gelling hypotonic polymer solution for extended topical drug delivery to the eye.

Eye-drop formulations should hold as high a concentration of soluble drug in contact with ocular epithelium for as long as possible. However, eye tears and frequent blinking limit drug retention on the ocular surface, and gelling drops typically form clumps that blur vision. Here, we describe a gelling hypotonic solution containing a low concentration of a thermosensitive triblock copolymer for extended ocular drug delivery.

Administration of Human Non-Diabetic Mesenchymal Stromal Cells to a Murine Model of Diabetic Fracture Repair: A Pilot Study.

Individuals living with type 1 diabetes mellitus may experience an increased risk of long bone fracture. These fractures are often slow to heal, resulting in delayed reunion or non-union. It is reasonable to theorize that the underlying cause of these diabetes-associated osteopathies is faulty repair dynamics as a result of compromised bone marrow progenitor cell function.