A Review of Pediatric Appendicitis Imaging Trends from 2006-2020 Using the Nationwide Emergency Department Sample.

Background: Appendicitis is a common surgical emergency in the pediatric population, affecting over 70,000 children per year in the United States alone. While historically practitioners predominately used computed tomography (CT) as the main diagnostic imaging modality, multiple professional societies have released guidelines recommending an ultrasound (US) first strategy when using imaging to confirm suspected appendicitis in pediatric populations. To date, no studies have quantified the change in imaging trends for pediatric appendicitis across the spectrum of healthcare facilities in the United States utilizing the Nationwide Emergency Department Sample (NEDS).

Rich microbial and depolymerising diversity in Antarctic krill gut.

With almost a quadrillion individuals, the Antarctic krill processes five million tons of organic carbon every day during austral summer. This high carbon flux requires a broad range of hydrolytic enzymes to decompose the diverse food-derived biopolymers. While krill itself possesses numerous such enzymes, it is unclear, to what extent the endogenous microbiota contribute to the hydrolytic potential of the gut environment.

Sensitive and selective phenol sensing in denitrifying EbN1.

Aromatic compounds are globally abundant organic molecules with a multitude of natural and anthropogenic sources, underpinning the relevance of their biodegradation. EbN1 is a well-studied environmental betaproteobacterium specialized on the anaerobic degradation of aromatic compounds. The here studied responsiveness toward phenol in conjunction with the apparent high ligand selectivity (non-promiscuity) of its PheR sensor and those of the related -cresol (PcrS) and -ethylphenol (EtpR) sensors are in accord with the substrate-specificity and biochemical distinctiveness of the associated degradation pathways.

mRNA splicing is modulated by intronic microRNAs.

Splicing of transcripts is catalyzed by the spliceosome, a mega-complex consisting of hundreds of proteins and five snRNAs, which employs direct interactions. When U1 snRNA forms high-affinity binding, namely more than eight base pairs, with the 5'SS, the result is usually a suppressing effect on the splicing activity. This likely occurs due to the inefficient unwinding of U1/5'SS base-pairing or other regulatory obstructions.

Skewed X-inactivation is associated with retinal dystrophy in female carriers of mutations.

Progressive degeneration of rod and cone photoreceptors frequently is caused by mutations in the X-chromosomal gene Retinitis Pigmentosa GTPase Regulator (). Males hemizygous for a mutation often are affected by Retinitis Pigmentosa (RP), whereas female mutation carriers only occasionally present with severe RP phenotypes. The underlying pathomechanism leading to RP in female carriers is not well understood.

Safety and Efficacy of Low-Dose Versus High-Dose Parenteral Ketorolac for Acute Pain Relief in Patients 65 Years and Older in the Emergency Department.

Background There is limited data surrounding acute pain management in elderly ED patients. Ketorolac is a potent non-steroidal anti-inflammatory drug (NSAID) with dose/duration-dependent side effects. There is evidence that an analgesic ceiling effect exists for parenteral ketorolac doses greater than 10 milligrams (mg); however, this has not been studied in patients 65 years and older.

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in .

TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high clinical variability with patients either missing cardinal features or having additional clinical traits. Initially, TARP was considered a lethal syndrome, but patients with milder symptoms were recently described.

Retrospective Natural History Study of -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Variants in the X-linked retinitis pigmentosa GTPase regulator gene ( and, specifically, in its retinal opening reading frame-15 isoform () may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While -related RCDs have been frequently evaluated, the characteristics and progression of -related CD/CRDs are largely unknown. Therefore, the goal of our work was to perform genotype-phenotype correlations specifically in -related CD/CRDs.

A Comparative Study of Data-Driven Models for Travel Destination Characterization.

Characterizing items for content-based recommender systems is a challenging task in complex domains such as travel and tourism. In the case of destination recommendation, no feature set can be readily used as a similarity ground truth, which makes it hard to evaluate the quality of destination characterization approaches. Furthermore, the process should scale well for many items, be cost-efficient, and most importantly correct.

Autosomal dominant optic atrophy: A novel treatment for splice defects using U1 snRNA adaption.

Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 () gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the -associated cases suffer from splice defects. We identified a novel mutation, c.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy.

Systematic expression analysis of plasticity-related genes in mouse brain development brings PRG4 into play.

Background: Plasticity-related genes (Prgs/PRGs) or lipid phosphate phosphatase-related proteins (LPPRs) comprise five known members, which have been linked to neuronal differentiation processes, such as neurite outgrowth, axonal branching, or dendritic spine formation. PRGs are highly brain-specific and belong to the lipid phosphate phosphatases (LPPs) superfamily, which influence lipid metabolism by dephosphorylation of bioactive lipids. PRGs, however, do not possess enzymatic activity, but modify lipid metabolism in a way that is still under investigation.

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Retinal dystrophies (RD) are clinically and genetically heterogenous disorders showing mutations in over 270 disease-associated genes. Several millions of people worldwide are affected with different types of RD. Studying the relevance of disease-associated sequence alterations will assist in understanding disorders and may lead to the development of therapeutic approaches.

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.

Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal migration is known to be associated with mutations in the doublecortin gene (DCX), the platelet-activating factor acetylhydrolase gene (PAFAH1B1), or tubulin alpha-1A gene (TUBA1A).

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.

X-linked retinitis pigmentosa (XLRP) is frequently caused by mutations in the () gene. A complex splicing process acts on the gene resulting in three major isoforms: , and . We characterized the widely expressed, alternatively spliced transcript lacking exons 14 and 15.

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Purpose: The purpose of this study was to perform a detailed longitudinal phenotyping of X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during a long follow-up period.

Methods: An Italian cohort of 48 male patients (from 31 unrelated families) with RPGR-associated RP was clinically assessed at a single center (mean follow-up = 6.5 years), including measurements of best-corrected visual acuity (BCVA), Goldmann visual field (GVF), optical coherence tomography (OCT), fundus autofluorescence (FAF), microperimetry, and full-field electroretinography (ERG).

Dominant optic atrophy: Culprit mitochondria in the optic nerve.

Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual information from the retina to the brain. Usually, DOA starts during childhood and evolves to poor vision or legal blindness, affecting the central vision, whilst sparing the peripheral visual field. In 20% of cases, DOA presents as syndromic disorder, with secondary symptoms affecting neuronal and muscular functions.

Translational Read-Through Therapy of Nonsense Mutations.

X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator () gene. We evaluated the potential of PTC124 (Ataluren, Translama) treatment to promote ribosomal read-through of premature termination codons (PTC) in . Expression constructs in HEK293T cells showed that the efficacy of read-through reagents is higher for UGA than UAA PTCs.

What do you do if your relief comes to work intoxicated: An Impaired Provider Scenario.

Audience: The primary audience for this simulation exercise is emergency medicine (EM) residents, although it could be more broadly applied to all provider groups, including medical students, advanced practice providers, and faculty physicians.

Introduction: Over the course of their professional careers, approximately 10-15% of physicians will misuse or abuse alcohol or drugs.1 Unfortunately, Emergency Physicians (EPs) are not immune to this phenomenon, and although EPs make up only 4.

A Novel de novo Frameshift Mutation in the Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Intellectual disability syndrome (IDS) associated with a hereditary persistence of fetal haemoglobin (HbF), also known as Dias-Logan syndrome, is commonly characterised by psychomotor developmental delay, intelectual disability, language delay, strabismus, thin upper lip, abnormalities of external ears, microcephaly, downslanting palpebral fissures. Sporadically, autism spectrum disorders and blue sclerae in infancy have been reported in IDS. Rarely, IDS-affected patients present with epilepsy and/or epileptic syndromes.

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.

Niemann-Pick type C1 (NPC1) is a lysosomal storage disorder, inherited as an autosomal-recessive trait. Mutations in the gene result in malfunction of the NPC1 protein, leading to an accumulation of unesterified cholesterol and glycosphingolipids. Beside visceral symptoms like hepatosplenomegaly, severe neurological symptoms such as ataxia occur.

Rare variants in the GABA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Background: Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y-aminobutyric acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous system.

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.

Background: Retinitis pigmentosa (RP) is one of the most common form of inherited retinal dystrophies. Identification of disease-causing mutations is a prerequisite for applying targeted therapeutic approaches. The present study aimed to identify disease-associated mutations in a large Serbian family, in which two brothers have suffered from RP starting in the first decade of their lives.