Definition and classification of hereditary angioedema.

Hereditary angioedema (HAE) is defined as a rare genetic disease with recurrent episodes of localized bradykinin-mediated swelling of the deep tissues of the skin, respiratory, and gastrointestinal tracts that can be life threatening. Classification of HAE has evolved over time with our further understanding of clinical phenotypes, underlying causes, and available testing. In most cases, HAE is caused by a deficiency of C1-esterase inhibitor (C1-INH) on the Serpin Family G Member 1 (SERPING1) gene, either through decreased amounts of C1-INH protein (C1-INH-HAE, type 1) or decreased function of C1-INH (C1-INH-HAE, type 2).

An Overview of Seminal Plasma Hypersensitivity and Approach to Treatment.

Seminal plasma hypersensitivity (SPH) presents with localized vaginal and/or systemic allergic symptoms on exposure to protein components of seminal plasma. Although the true incidence is unclear, it is a likely underdiagnosed but an important cause of vulvovaginitis and dyspareunia that affects women across the entire globe. Systemic SPH is likely elicited by an IgE-mediated reaction to seminal plasma proteins other than spermatozoa.

KMT2C/D COMPASS complex-associated diseases [KCOM-ADs]: an emerging class of congenital regulopathies.

The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D COMPASS complexes (complex of proteins associating with Set1). These evolutionarily conserved proteins regulate DNA promoter and enhancer elements, modulating the activity of diverse cell types critical for embryonic morphogenesis, central nervous system development, and post-natal survival. KMT2C/D COMPASS complexes and their binding partners enhance active gene expression of specific loci via the targeted modification of histone-3 tail residues, in general promoting active euchromatic conformations.

Oral immunotherapy for multiple foods in a pediatric allergy clinic setting.

Background: The increasing incidence of pediatric food allergy results in significant health care burden and family stress. Oral immunotherapy (OIT) can induce tolerance to peanut, milk, and egg. OIT for other foods, particularly multiple foods simultaneously, has not been thoroughly studied.

Understanding differences in allergen immunotherapy products and practices in North America and Europe.

Allergen immunotherapy (AIT) is thought to be clinically effective and safe in treating allergic rhinitis, asthma, and stinging insect allergy in Europe and North America. However, there are intercontinental differences in AIT therapeutic products in terms of their application and regulation. In North America unmodified standardized and nonstandardized aqueous aeroallergen extracts are approved and used almost exclusively for subcutaneous immunotherapy, whereas more product options are available in Europe, including adsorbed allergens, chemically modified allergens, or both.

Transnasal Endoscopy in Unsedated Children With Eosinophilic Esophagitis Using Virtual Reality Video Goggles.

Background & Aims: Evaluation and treatment of children with eosinophilic esophagitis (EoE) requires serial endoscopic, visual, and histologic assessment by sedated esophagogastroduodenoscopy (EGD). Unsedated transnasal endoscopy (TNE) was reported to be successful in a pilot study of children. We evaluated video goggle and virtual reality-based unsedated TNE in children with EoE, collecting data on rates of completion, adverse events, and adequacy of visual and histologic findings.

How to prevent food allergy during infancy: what has changed since 2013?

Purpose Of Review: The purpose of this review is to summarize recent studies and emerging consensus guidelines regarding food allergy prevention in infants of the past 5 years.

Recent Findings: Prior to 2013, the general consensus regarding prevention of food allergy in infants was to recommend delayed introduction or complete avoidance of commonly allergenic foods, such as milk, egg and peanut. However, in the past 5 years, several landmark studies have been conducted, particularly with peanut.

Magnetic resonance imaging indicates decreased choroidal and retinal blood flow in the DBA/2J mouse model of glaucoma.

Purpose: This study tests the hypothesis that reduced retinal and choroidal blood flow (BF) occur in the DBA/2J mouse model of glaucoma.

Methods: Quantitative BF magnetic resonance imaging (MRI) with a resolution of 42 × 42 × 400 μm was performed on DBA/2J mice at 4, 6, and 9 months of age and C57BL/6 age-matched controls under isoflurane anesthesia. BF MRI images were acquired with echo-planar imaging using an arterial spin labeling technique and a custom-made eye coil at 7 Tesla.

A PI3-kinase-mediated negative feedback regulates neuronal excitability.

Use-dependent downregulation of neuronal activity (negative feedback) can act as a homeostatic mechanism to maintain neuronal activity at a particular specified value. Disruption of this negative feedback might lead to neurological pathologies, such as epilepsy, but the precise mechanisms by which this feedback can occur remain incompletely understood. At one glutamatergic synapse, the Drosophila neuromuscular junction, a mutation in the group II metabotropic glutamate receptor gene (DmGluRA) increased motor neuron excitability by disrupting an autocrine, glutamate-mediated negative feedback.

Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves.

Drosophila peripheral nerves, structured similarly to their mammalian counterparts, comprise a layer of motor and sensory axons wrapped by an inner peripheral glia (analogous to the mammalian Schwann cell) and an outer perineurial glia (analogous to the mammalian perineurium). Growth and proliferation within mammalian peripheral nerves are increased by Ras pathway activation: loss-of-function mutations in Nf1, which encodes the Ras inhibitor neurofibromin, cause the human genetic disorder neurofibromatosis, which is characterized by formation of neurofibromas (tumors of peripheral nerves). However, the signaling pathways that control nerve growth downstream of Ras remain incompletely characterized.