Key roles of C2/GAP domains in SYNGAP1-related pathophysiology.

Mutations in SYNGAP1 are a common genetic cause of intellectual disability (ID) and a risk factor for autism. SYNGAP1 encodes a synaptic GTPase-activating protein (GAP) that has both signaling and scaffolding roles. Most pathogenic variants of SYNGAP1 are predicted to result in haploinsufficiency.

A review of the risks and relationships between oral health and chronic diseases.

Advances in medical science and in preventive dentistry have changed the context of oral health. The American population is living longer with numerous complex chronic diseases. This paper is to raise awareness about the impact of multiple chronic diseases and their associations with oral diseases.

Amygdala-hippocampus somatostatin interneuron beta-synchrony underlies a cross-species biomarker of emotional state.

Emotional responses arise from limbic circuits including the hippocampus and amygdala. In the human brain, beta-frequency communication between these structures correlates with self-reported mood and anxiety. However, both the mechanism and significance of this biomarker as a readout vs.

Sickle cell disease: Contributing factors and radiological assessments.

Sickle Cell Disease (SCD) is genetically described as an autosomal blood disorder resulting from the presence of a mutated form of hemoglobin. Morbidity, frequency of crisis, degree of anemia, and organ systems involved vary considerably per patient. Dental health professionals and other specialists commonly request comprehensive medical consultations prior to performing complex periodontal, endodontic, and surgical procedures.

Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3 rat model of autism.

Background: Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied in models of these disorders, however differences in fear response behaviours are often overlooked. We aim to examine fear behaviour and its cellular underpinnings in a rat model of ASD/ID lacking Nlgn3.

Vertex protein PduN tunes encapsulated pathway performance by dictating bacterial metabolosome morphology.

Engineering subcellular organization in microbes shows great promise in addressing bottlenecks in metabolic engineering efforts; however, rules guiding selection of an organization strategy or platform are lacking. Here, we study compartment morphology as a factor in mediating encapsulated pathway performance. Using the 1,2-propanediol utilization microcompartment (Pdu MCP) system from Salmonella enterica serovar Typhimurium LT2, we find that we can shift the morphology of this protein nanoreactor from polyhedral to tubular by removing vertex protein PduN.

Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome.

Cellular hyperexcitability is a salient feature of fragile X syndrome animal models. The cellular basis of hyperexcitability and how it responds to changing activity states is not fully understood. Here, we show increased axon initial segment length in CA1 of the Fmr1 mouse hippocampus, with increased cellular excitability.

The evolving relationship between conservative states and access to contraception.

Poor access to contraception can lead to several undesired health outcomes, including high rates of unintended pregnancy, high rates of teen pregnancy, spontaneous preterm delivery, preeclampsia and maternal death. Properly addressing these public health issues often require a coordinated response at the state government level. States with conservative legislatures have traditionally fought attempts to expand access to contraception.

Biochemical Characterization of Yeast Xrn1.

Messenger RNA degradation is an important component of overall gene expression. During the final step of eukaryotic mRNA degradation, exoribonuclease 1 (Xrn1) carries out 5' → 3' processive, hydrolytic degradation of RNA molecules using divalent metal ion catalysis. To initiate studies of the 5' → 3' RNA decay machinery in our lab, we expressed a C-terminally truncated version of Xrn1 and explored its enzymology using a second-generation, time-resolved fluorescence RNA degradation assay.

Associations between health literacy and patient outcomes in adolescents and young adults with cystic fibrosis.

Background: Interactive health literacy (HL) skills enable individuals to participate more fully in healthcare activities and play a role in improving their outcomes. We examine the associations between HL and cystic fibrosis (CF) outcomes and compare HL in a sample from both the Irish CF and general populations.

Methods: A total of251 CF Registry participants aged 13-30 years completed the HLS-EU-Q16 survey and a disease-specific instrument for measuring quality of life (QoL) in CF.

Altered dendritic spine function and integration in a mouse model of fragile X syndrome.

Cellular and circuit hyperexcitability are core features of fragile X syndrome and related autism spectrum disorder models. However, the cellular and synaptic bases of this hyperexcitability have proved elusive. We report in a mouse model of fragile X syndrome, glutamate uncaging onto individual dendritic spines yields stronger single-spine excitation than wild-type, with more silent spines.

Use of Biosimilar Granulocyte Colony-Stimulating Factor for Mobilization in Autologous and Allogeneic Hematopoietic Stem Cell Transplantation.

The biologic medication filgrastim is approved by the Food and Drug Administration (FDA) to mobilize hematopoietic progenitor cells (HPCs) for collection by leukapheresis for autologous hematopoietic stem cell transplant (HSCT). The FDA-approved biologic tbo-filgrastim is currently used off-label for this indication in both autologous and allogeneic HSCT at the Tennessee Valley Healthcare System. The purpose of this review is to compare the efficacy of filgrastim and tbo-filgrastim for this indication.

Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome.

Fragile X Syndrome (FXS) is one of the most common monogenic forms of autism and intellectual disability. Preclinical studies in animal models have highlighted the potential of pharmaceutical intervention strategies for alleviating the symptoms of FXS. However, whether treatment strategies can be tailored to developmental time windows that define the emergence of particular phenotypes is unknown.

Longitudinal Trends in Real-World Outcomes after Initiation of Ivacaftor. A Cohort Study from the Cystic Fibrosis Registry of Ireland.

Rationale: Patient registries have the potential to collect and analyze high-quality postauthorization data on new medicines.

Objectives: We used cystic fibrosis (CF) registry data to assess outcomes after the initiation of ivacaftor, a CF transmembrane conductance regulator (CFTR) potentiator approved for the treatment of CF with a defective gating CFTR mutation.

Methods: Longitudinal trends were examined using mixed-effects regression analysis in 80 ivacaftor-treated patients with CF aged 6 to 56 years registered with the CF Registry of Ireland with at least 36 months of before and after commencement data.

The free energy of biomembrane and nerve excitation and the role of anesthetics.

In the electromechanical theory of nerve stimulation, the nerve impulse consists of a traveling region of solid membrane in a liquid environment. Therefore, the free energy necessary to stimulate a pulse is directly related to the free energy difference necessary to induce a phase transition in the nerve membrane. It is a function of temperature and pressure, and it is sensitively dependent on the presence of anesthetics which lower melting transitions.

Student Affect During an HBCU Summer Research Program.

The popularity and effectiveness of intensive summer research programs to increase student self-efficacy is known. The Summer Research Institute (SRI) training experience, as part of undergraduate student training in Morgan State University's NIH BUILD program, uses an entrepreneurial approach to prepare students for careers in health-related research. Bandura's self-efficacy theory's (1977) four antecedents are represented in the SRI curriculum, which provides multiple opportunities for mastery experiences and for moments of roused feelings.

Epidemiology of CF: How registries can be used to advance our understanding of the CF population.

Cystic fibrosis (CF) registries work by bringing patient data together from specialist CF centres and accumulating data on a relatively rare condition over patients' lifetimes. In this review, we examine the origin of national CF registries, the use of registries for monitoring the health of the population, the power of conducting longitudinal analysis of registry data, knowledge gleaned from changing demographics, the evolving area of international comparisons of registries, strategies for sustaining registries and CF registries of the future. Examples of research undertaken using registry data and routinely reported CF registry statistics from across the world are provided.

Aripiprazole for Post-traumatic Stress Disorder: A Systematic Review.

Objective: The aim of this study was to review the safety and efficacy of aripiprazole as monotherapy and adjunct therapy for the treatment of post-traumatic stress disorder (PTSD).

Methods: A search of both MEDLINE (1956 to May 2017) and EMBASE (1957 to May 2017) was conducted using the terms "aripiprazole" and "post-traumatic stress disorder," "posttraumatic stress disorder," or "PTSD." Studies evaluating the primary endpoint of PTSD in patients taking aripiprazole as monotherapy or adjunct therapy were analyzed for relevance.

Is Acute Care-Oriented Research Ethical in Resource-Limited Settings?

In this case scenario, a medical student, Jenny, is conducting congenital heart disease research in a resource-limited setting faced with water insecurity. She has concerns about how ethical it is for her to conduct advanced clinical research in a region with more basic health needs. The first commentary argues that advanced clinical research in resource-limited settings follows the ethical principle of beneficence and interactional justice but violates the principle of distributive justice.

Estimating Direct Cost of Cystic Fibrosis Care Using Irish Registry Healthcare Resource Utilisation Data, 2008-2012.

Background: Understanding the determinants of cost of cystic fibrosis (CF) care and health outcomes may be useful for financial planning for the delivery of CF services. Registries contain information otherwise unavailable to healthcare activity/cost monitoring systems. We estimated the direct medical cost of CF care using registry data and examined how cost was affected by patient characteristics and CF gene (CF Transmembrane Conductance Regulator [CFTR]) mutation.

Solitary electromechanical pulses in lobster neurons.

Investigations of nerve activity have focused predominantly on electrical phenomena. Nerves, however, are thermodynamic systems, and changes in temperature and in the dimensions of the nerve can also be observed during the action potential. Measurements of heat changes during the action potential suggest that the nerve pulse shares many characteristics with an adiabatic pulse.

The Historical Development of Obstetric Anesthesia and Its Contributions to Perinatology.

Scottish obstetrician James Young Simpson first introduced the use of ether and chloroform anesthesia for labor in 1847, just 1 year after William Morton's first successful public demonstration of ether anesthesia at the Massachusetts General Hospital. The contemporaneous development of surgical anesthesia and obstetrics enabled obstetric anesthesia to address the pain of childbirth. Shortly after its introduction, obstetricians raised concerns regarding placental transport, or the idea that drugs not only crossed the placenta, but exerted detrimental effects on the neonate.

Evaluating the Orbach Mikulincer Mental Pain Scale among Late Adolescent and Early Adult African Americans: A Rasch Analysis.

Although there are only a few psychometric investigations of mental pain measurement in the literature, there are no previous evaluations of mental pain scales among African Americans. The present study examined the Rasch measurement properties of the nine subscales contained in the Orbach-Mikulincer Mental Pain (OMMP) Scale among a sample of older adolescent and young adult African Americans. Results from the analyses suggest that three of the OMMP subscales meet the requirements of the Rasch model and hold promise for use in research and applied settings.