A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.

3-hydroxy isobutyl-CoA hydrolase (HIBCH) deficiency is a recently described, rare inborn error of valine metabolism associated with a Leigh syndrome-like phenotype, neurodegenerative symptoms, and caused by recessive mutations in the HIBCH gene. We report the most severe case to date of an intrauterine growth-restricted term male who presented with severe acidosis and a high anion gap soon after birth. The manifestation was fatal that led to death within 36 hours of life.

Parental decision regret after pediatric urologic surgeries compared to decisions of everyday life.

Introduction: Parents are at risk of decision regret (DR) for decisions affecting their children. The Decision Regret Scale (DRS) measures medical DR but lacks context outside of healthcare.

Objective: To compare parental DR 1) between common pediatric urologic surgeries and everyday decisions and 2) with preference to make a different choice.

Prevalence of in Eggs from Conventional and Cage-Free Egg Production Systems and the Role of Consumers in Reducing Household Contamination.

is one of the leading causes of foodborne disease worldwide, usually related to contaminated poultry or poultry products, such as eggs. Since egg contamination with depends on multiple factors that make it challenging to control, consumers' knowledge about food safety and the proper handling of eggs is crucial. The aims of the study were (1) to determine the prevalence of in eggs from conventional and alternative production systems, (2) to characterize the isolates according to phenotypic-genotypic and antimicrobial-resistant traits, and (3) to understand how consumers manage the hazards related to egg contamination in the household.

Oxytocin activity in the paraventricular and supramammillary nuclei of the hypothalamus is essential for social recognition memory in rats.

Oxytocin plays an important role in modulating social recognition memory. However, the direct implication of oxytocin neurons of the paraventricular nucleus of the hypothalamus (PVH) and their downstream hypothalamic targets in regulating short- and long-term forms of social recognition memory has not been fully investigated. In this study, we employed a chemogenetic approach to target the activity of PVH oxytocin neurons in male rats and found that specific silencing of this neuronal population led to an impairment in short- and long-term social recognition memory.

Light and electron microscopic imaging of synaptic vesicle endocytosis at mouse hippocampal cultures.

Following the release of neurotransmitters at synaptic vesicles via exocytosis, endocytosis is initiated to retrieve vesicles that have fused with the plasma membrane of nerve terminals and recycle them, thus sustaining synaptic transmission. Here, we describe imaging-based protocols for quantitative measurements of endocytosis at cultured synapses. These protocols include (1) primary culture of mouse hippocampal neurons, (2) studying endocytosis at neurons transfected with a pH-sensitive synaptophysin-pHluorin2× using fluorescent microscopy, and (3) imaging endocytosis at fixed neurons with electron microscopy.

Quantum Revivals in Curved Graphene Nanoflakes.

Graphene nanostructures have attracted a lot of attention in recent years due to their unconventional properties. We have employed Density Functional Theory to study the mechanical and electronic properties of curved graphene nanoflakes. We explore hexagonal flakes relaxed with different boundary conditions: (i) all atoms on a perfect spherical sector, (ii) only border atoms forced to be on the spherical sector, and (iii) only vertex atoms forced to be on the spherical sector.

Confocal Microscopy to Measure Three Modes of Fusion Pore Dynamics in Adrenal Chromaffin Cells.

Dynamic fusion pore opening and closure mediate exocytosis and endocytosis and determine their kinetics. Here, it is demonstrated in detail how confocal microscopy was used in combination with patch-clamp recording to detect three fusion modes in primary culture bovine adrenal chromaffin cells. The three fusion modes include 1) close-fusion (also called kiss-and-run), involving fusion pore opening and closure, 2) stay-fusion, involving fusion pore opening and maintaining the opened pore, and 3) shrink-fusion, involving shrinkage of the fusion-generated Ω-shape profile until it merges completely at the plasma membrane.

Opioid overdoses: Emerging clinical challenges.

Objective: Analysis of a large consecutive case series of cases brought to an Emergency Department (ED).

Design: Retrospective chart review.

Setting: Emergency Department in Broward County, Florida.

Intestinal Mucosal Barrier Function Restoration in Mice by Maize Diet Containing Enriched Flavan-4-Ols.

Inflammatory bowel disease (IBD), a chronic intestinal inflammatory condition, awaits safe and effective preventive strategies. Naturally occurring flavonoid compounds are promising therapeutic candidates against IBD due to their great antioxidant potential and ability to reduce inflammation and improve immune signaling mediators in the gut. In this study, we utilized two maize near-isogenic lines flavan-4-ols-containing (F+) and flavan-4-ols-lacking (F-) to investigate the anti-inflammatory property of flavan-4-ols against carboxymethylcellulose (CMC)-induced low-grade colonic inflammation.

Genomic landscape of young ATLL patients identifies frequent targetable CD28 fusions.

Adult T-cell leukemia/lymphoma (ATLL) in Japan presents at a median age of 70 years and only 5% of patients are <50 years of age. We conducted RNA and targeted DNA sequencing of 8 ATLLs from Japanese patients <50 years of age and identified 3 (37.5%) with both CTLA4-CD28 and inducible costimulator (ICOS)-CD28 fusions.

The Atlantic salmon interleukin 4/13 receptor family: Structure, tissue distribution and modulation of gene expression.

Interleukin (IL)-4 and IL-13 play a central role in T helper 2 immune response in mammals. The cell signalling is mediated by the type I heterodimeric receptor containing the IL-4Rα and γC chains, and the type II receptors formed by IL-4Rα and IL-13Rα1. In salmonid species, three paralogues of the IL-4 and IL-13 cytokines have been reported, il-4/13a, il-4/13b1 and il-4/13b2.

Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

T- and NK-cell lymphomas (TCL) are a heterogenous group of lymphoid malignancies with poor prognosis. In contrast to B-cell and myeloid malignancies, there are few preclinical models of TCLs, which has hampered the development of effective therapeutics. Here we establish and characterize preclinical models of TCL.

Six Sessions of Anterior-to-Posterior Ankle Joint Mobilizations Improve Patient-Reported Outcomes in Patients With Chronic Ankle Instability: A Critically Appraised Topic.

Chronic ankle instability (CAI) is a complex musculoskeletal condition that results in sensorimotor and mechanical alterations. Manual therapies, such as ankle joint mobilizations, are known to improve clinician-oriented outcomes like dorsiflexion range of motion, but their impact on patient-reported outcomes remains less clear. Do anterior-to-posterior ankle joint mobilizations improve patient-reported outcomes in patients with chronic ankle instability? Three studies (2 randomized controlled trials and 1 prospective cohort) quantified the effect of at least 2 weeks of anterior-to-posterior ankle joint mobilizations on improving patient-reported outcomes immediately after the intervention and at a follow-up assessment.

Drug sensitivity of single cancer cells is predicted by changes in mass accumulation rate.

Assays that can determine the response of tumor cells to cancer therapeutics could greatly aid the selection of drug regimens for individual patients. However, the utility of current functional assays is limited, and predictive genetic biomarkers are available for only a small fraction of cancer therapies. We found that the single-cell mass accumulation rate (MAR), profiled over many hours with a suspended microchannel resonator, accurately defined the drug sensitivity or resistance of glioblastoma and B-cell acute lymphocytic leukemia cells.

Antibacterial Effect of Copper on Microorganisms Isolated from Bovine Mastitis.

The antimicrobial properties of copper have been recognized for several years; applying these properties to the prevention of diseases such as bovine mastitis is a new area of research. The aim of the present study was to evaluate in vitro the antimicrobial activity of copper on bacteria isolated from subclinical and clinical mastitis milk samples from two regions in Chile. A total of 327 microorganisms were recovered between March and September 2013, with different prevalence by sample origin (25 and 75% from the central and southern regions of Chile, respectively).

Different Transcriptional Responses from Slow and Fast Growth Rate Strains of Listeria monocytogenes Adapted to Low Temperature.

Listeria monocytogenes has become one of the principal foodborne pathogens worldwide. The capacity of this bacterium to grow at low temperatures has opened an interesting field of study in terms of the identification and classification of new strains of L. monocytogenes with different growth capacities at low temperatures.

A Proteome-wide Fission Yeast Interactome Reveals Network Evolution Principles from Yeasts to Human.

Here, we present FissionNet, a proteome-wide binary protein interactome for S. pombe, comprising 2,278 high-quality interactions, of which ∼ 50% were previously not reported in any species. FissionNet unravels previously unreported interactions implicated in processes such as gene silencing and pre-mRNA splicing.

Ambulatory postural blood pressure changes and history allow a better selection of patients that should undergo a head-up tilt test.

Background: Syncope is a common symptom and in most cases it is of a neurally mediated origin. Such patients have to be studied with a careful history and a physical exploration that should include simple maneuvers such as blood pressure (BP) recordings in decubitus and standing position. These tools can suggest diagnosis in a good percentage of patients without the need for expensive or invasive testing.

Experimental and theoretical studies on the effect of the oxo group in 1,4-benzodiazepines.

Two families of regioisomeric 1,4-benzodiazepines, 4-benzyl-3H-benzo[e][1,4]diazepin-5-ones and 4-benzoyl-4,5-dihydro-3H-benzo[e][1,4]diazepines, have been synthesized through a similar Ugi/reduction cyclization sequence. Their conformation and stability depend on the position of the tautomeric imine/enamine equilibrium present in the diazepine nucleus, which in turn depends on the relative position of the carbonyl group adjacent to the nitrogen at the 4-position in the benzodiazepine system. Moreover, the electrophilic center on the imine tautomer is essential for the antitumor activity of some benzodiazepines as a DNA binding position.

Cross-species protein interactome mapping reveals species-specific wiring of stress response pathways.

The fission yeast Schizosaccharomyces pombe has more metazoan-like features than the budding yeast Saccharomyces cerevisiae, yet it has similarly facile genetics. We present a large-scale verified binary protein-protein interactome network, "StressNet," based on high-throughput yeast two-hybrid screens of interacting proteins classified as part of stress response and signal transduction pathways in S. pombe.

Wavepacket revivals in monolayer and bilayer graphene rings.

We have studied the existence of quantum revivals in graphene quantum rings within a simplified model. The time evolution of a Gaussian-populated wavepacket shows revivals in monolayer and bilayer graphene rings. We have also studied this behavior for quantum rings in a perpendicular magnetic field.