Measuring Temporal Change in Scrub Vegetation Cover Using UAV-Derived Height Maps: A Case Study at Two UK Nature Reserves.

Measuring the outcome of practical interventions and actions helps to inform conservation management objectives and assess progress towards objectives and targets. Measuring success also informs future management by identifying actions that are effective and those that are not. Scrub vegetation is an important habitat type in terrestrial ecosystems, providing important shelter and food resources for biodiversity and livestock.

Genome-wide association testing beyond SNPs.

Decades of genetic association testing in human cohorts have provided important insights into the genetic architecture and biological underpinnings of complex traits and diseases. However, for certain traits, genome-wide association studies (GWAS) for common SNPs are approaching signal saturation, which underscores the need to explore other types of genetic variation to understand the genetic basis of traits and diseases. Copy number variation (CNV) is an important source of heritability that is well known to functionally affect human traits.

Group structure and individual relationships of sanctuary-living Grauer's gorillas (Gorilla beringei graueri).

The study of individual social relationships and group structure provides insights into a species' natural history and can inform management decisions for animals living in human care. The Gorilla Rehabilitation and Conservation Education (GRACE) center provides permanent sanctuary for a group of 14 Grauer's gorillas (Gorilla beringei graueri), a critically endangered and poorly studied subspecies of the genus gorilla, in the Democratic Republic of the Congo. We monitored the association patterns of the gorillas at GRACE over eight months and here describe their individual relationships and group structure via multiple social network statistics.

Asthma exacerbations and eosinophilia in the UK Biobank: a genome-wide association study.

Background: Asthma exacerbations reflect disease severity, affect morbidity and mortality, and may lead to declining lung function. Inflammatory endotypes ( T2-high (eosinophilic)) may play a key role in asthma exacerbations. We aimed to assess whether genetic susceptibility underlies asthma exacerbation risk and additionally tested for an interaction between genetic variants and eosinophilia on exacerbation risk.

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel).

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies.

Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the gene. Neuropsychiatric manifestations occur approximately in one-third of patients with dystrophinopathy. Epilepsy has been described.

Pediatric Emergency Physicians' Comfort Level Providing Urgent Care for Adults on Telemedicine During the COVID-19 Pandemic: Experience at an Academic Medical Center.

Objective: Our objectives were to assess the comfort level of pediatric emergency physicians (PEPs) providing urgent care to adult patients on telemedicine (APOTM) when redeployed during the coronavirus disease 2019 (COVID-19) pandemic, how it changed over time, and what resources were helpful.  Materials and methods: We conducted a retrospective pre-post cross-sectional survey of PEPs providing urgent care to APOTM with COVID-19 symptoms during the COVID-19 surge from March 12, 2020, to June 12, 2020 (the "care period") at two academic pediatric emergency departments in New York City. A retrospective chart review was also conducted.

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.

Background: The role of copy number variants (CNVs) in susceptibility to asthma is not well understood. This is, in part, due to the difficulty of accurately measuring CNVs in large enough sample sizes to detect associations. The recent availability of whole-exome sequencing (WES) in large biobank studies provides an unprecedented opportunity to study the role of CNVs in asthma.

Into a brave new world: Haemophilia A & von Willebrand Disease Surgery with novel therapies.

Introduction: Haemophilia & von Willebrand disease are both recognised inherited bleeding disorders. With increased access to highly efficient and safe replacement and novel therapies, management of surgical interventions in this group can be safely managed by experienced multidisciplinary teams.

Aim: To review the evidence for managing surgery in the era of novel therapies.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in .

The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic odyssey or remain undiagnosed. Defining the molecular etiology can bring insights into the responsible molecular pathways and eventually the identification of therapeutic targets.

Safety of MRI in patients with retained cardiac leads.

Purpose: To evaluate the safety of MRI in patients with fragmented retained leads (FRLs) through numerical simulation and phantom experiments.

Methods: Electromagnetic and thermal simulations were performed to determine the worst-case RF heating of 10 patient-derived FRL models during MRI at 1.5 T and 3 T and at imaging landmarks corresponding to head, chest, and abdomen.

Radiofrequency heating of retained cardiac leads during magnetic resonance imaging at 1.5 T and 3 T.

Patients with cardiovascular implantable electronic devices (CIEDs) are often prevented from receiving magnetic resonance imaging (MRI) due to risks associated with radiofrequency (RF) heating of tissue around the implanted leads. Although MR-conditional CIEDs are available, the safety labeling of such devices does not extend to patients with fragmented retained leads (FRLs), where segments of the leads are left in the tissue after the original device is extracted. Unlike intact and isolated leads of CIEDs, FRLs are often bare conductive lead fragments in direct contact with the tissue.

Effect of a dietary and exercise intervention in women with overweight and obesity undergoing fertility treatments: protocol for a randomized controlled trial.

Background: Distinct molecular, inflammatory, and metabolic signatures are present in oocytes and follicular fluid derived from women with obesity when compared to those derived from normal weight women, which suggest existing signals that may program future offspring for metabolic diseases. This study aims to assess the feasibility and efficacy of a peri-conception nutrition and exercise intervention on mitigating obesity-associated changes in oocyte gene expression profiles and follicular fluid metabolites.

Methods: This single blinded randomized control trial will include 120 women with a BMI of 25-45 kg/m, ≥21 years of age, and undergoing in vitro fertilization (IVF) treatments.

Variants associated with expression have sex-differential effects on lung function.

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.

Pleiotropic associations of heterozygosity for the Z allele in the UK Biobank.

Homozygosity for the Z allele causes α-antitrypsin deficiency, a rare condition that can cause lung and liver disease. However, the effects of Z allele heterozygosity on nonrespiratory phenotypes, and on lung function in the general population, remain unclear. We conducted a large, population-based study to determine Z allele effects on >2400 phenotypes in the UK Biobank (N=303 353).

Osteomyelitis in an Unusual Location With an Atypical Presentation: A Case Report and Review of the Literature of Scapular Osteomyelitis in Pediatric Patients.

Bacterial osteomyelitis of the scapula is rare in pediatric patients. When it occurs, it usually affects young infants and patients often exhibit fever and functional limitation of the extremity. We present a case of a 12-year-old boy with subacute bacterial scapular osteomyelitis and a normal physical examination.

Initial Experience Using Disposable Negative Pressure Wound Therapy for Closed Incisions Following Outpatient Wound Reconstruction.

Wound reconstruction surgeries are at high risk for failure. Outpatient wound reconstruction (OWR) describes these procedures performed in the outpatient setting under local anesthesia. The use of closed incision negative pressure therapy (ciNPT) has been shown to protect the incision and help minimize the risk of postoperative complications.

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Objective: Pathogenic variants in SCN3A, encoding the voltage-gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuroimaging features of SCN3A-related neurodevelopmental disorder.

Brief Resolved Unexplained Event: Not Just a New Name for Apparent Life-Threatening Event.

Objectives: This study aimed to evaluate patients who presented to the pediatric emergency department with an apparent life-threatening event (ALTE) to (1) determine if these patients would meet the criteria for brief resolved unexplained event (BRUE), a new term coined by the American Academy of Pediatrics in May, 2016; (2) risk stratify these patients to determine if they meet the BRUE low-risk criteria; and (3) evaluate outcomes of patients meeting the criteria for BRUE.

Methods: We conducted a retrospective chart review of patients who presented to a large urban academic center pediatric emergency department with an ALTE from January 2013 to May 2015 (before the publication of the BRUE guideline). Children ≤12 months of age were identified by the International Classification of Diseases, Ninth/Tenth Revision.