From Pre-Service to Professional Teaching: A Longitudinal Study of Two LGBTQ+-identifying First-Year Elementary Teachers' Experiences.

Researchers have documented that being an LGBTQ+-identifying teacher can present particular challenges and marginalizing experiences. This longitudinal, qualitative study is a follow-up to a year-long endeavor documenting the experiences of one gay and one lesbian-identifying preservice teachers as they navigated school and a professional job search. In this study, we followed these same two teachers as they entered their first year of professional teaching in academic year 2015-2016, and we present the experiences, difficulties, challenges, and navigation of these two LGTBQ+-identifying elementary teachers.

Tiered analysis of whole-exome sequencing for epilepsy diagnosis.

It is thought that despite highly variable phenotypic expression, 70-80% of all epileptic cases are caused by one or more genetic mutations. Next generation sequencing technologies, such as whole exome sequencing (WES), can be used in a diagnostic or research setting to identify genetic mutations which may have significant prognostic implications for patients and their families. In this study, 398 genes associated with epilepsy or recurrent seizures were stratified into tiers based on genotype-phenotype concordance, tissue gene expression, frequency of affected individuals with mutations and evidence from functional and family studies.

On Becoming an LGBTQ+-Identifying Teacher: A Year-Long Study of Two Gay and Lesbian Preservice Elementary Teachers.

LGBTQ+-identifying preservice teachers must navigate several different contexts, including the university and public schools, wherein they must make decisions about being open ("out") regarding their LGBTQ+ identities. However, the small amount of research to date has typically focused on the experiences of LGBTQ+ educators already actively working in public schools. In this year-long, qualitative case study, we present the experiences, perspectives, and challenges of two elementary preservice teachers who identify as gay and lesbian through their year-long student teaching placement.

The NRP1 migraine risk variant shows evidence of association with menstrual migraine.

Background: In 2016, a large meta-analysis brought the number of susceptibility loci for migraine to 38. While sub-type analysis for migraine without aura (MO) and migraine with aura (MA) found some loci showed specificity to MO, the study did not test the loci with respect to other subtypes of migraine. This study aimed to test the hypothesis that single nucleotide polymorphisms (SNPs) robustly associated with migraine are individually or collectively associated with menstrual migraine (MM).

A national stakeholder consensus study of challenges and priorities for clinical learning environments in postgraduate medical education.

Background: High quality clinical learning environments (CLE) are critical to postgraduate medical education (PGME). The understaffed and overcrowded environments in which many residents work present a significant challenge to learning. The purpose of this study was to develop a national expert group consensus amongst stakeholders in PGME to; (i) identify important barriers and facilitators of learning in CLEs and (ii) indicate priority areas for improvement.

Continuing professional development and Irish hospital doctors: a survey of current use and future needs.

Doctors rate clinical relevance and applicability as the most important determinants of continuing professional development (CPD) course selection. This study examined patterns of current CPD practice and perceived CPD needs among hospital doctors in Ireland across various clinical specialties. A cross-sectional survey was administered to doctors, focusing on the areas of training needs analysis, CPD course content and preferred course format.

encephalopathy: A new disease of vesicle fission.

Objective: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.

Methods: We reviewed phenotypic data of 21 patients (7 previously published) with mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.

Protocol for a realist review of workplace learning in postgraduate medical education and training.

Background: Postgraduate medical education and training (PGMET) is a complex social process which happens predominantly during the delivery of patient care. The clinical learning environment (CLE), the context for PGMET, shapes the development of the doctors who learn and work within it, ultimately impacting the quality and safety of patient care. Clinical workplaces are complex, dynamic systems in which learning emerges from non-linear interactions within a network of related factors and activities.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Background: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy.

Methods: Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.

Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP remain elusive. Aiming to elucidate the genetic basis of SUDEP, we analysed rare, protein-changing variants from whole-exome sequences of 18 people who died of SUDEP, 87 living people with epilepsy and 1479 non-epilepsy disease controls.

Case-control study of ADARB1 and ADARB2 gene variants in migraine.

Background: Migraine causes crippling attacks of severe head pain along with associated nausea, vomiting, photophobia and/or phonophobia. The aim of this study was to investigate single nucleotide polymorphisms (SNPs) in the adenosine deaminase, RNA-specific, B1 (ADARB1) and adenosine deaminase, RNA specific, B2 (ADARB2) genes in an Australian case-control Caucasian population for association with migraine. Both candidate genes are highly expressed in the central nervous system and fit criteria for migraine neuropathology.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times independently).

Designing Learning Outcomes for Handoff Teaching of Medical Students Using Group Concept Mapping: Findings From a Multicountry European Study.

Purpose: To develop, by consultation with an expert group, agreed learning outcomes for the teaching of handoff to medical students using group concept mapping.

Method: In 2013, the authors used group concept mapping, a structured mixed-methods approach, applying both quantitative and qualitative measures to identify an expert group's common understanding about the learning outcomes for training medical students in handoff. Participants from four European countries generated and sorted ideas, then rated generated themes by importance and difficulty to achieve.

Social media and tomorrow's medical students--how do they fit?

Objective: The main aim of our study was to establish the prevalence of social networking accounts among a group of second-level students (aged 15-18 years), to determine whether they used privacy settings, and to examine their attitudes to various aspects of social media use in medicine.

Design: A descriptive study design was employed. The questionnaire was constructed specifically to address the attitudes of students to social media.

Investigation of brain-derived neurotrophic factor (BDNF) gene variants in migraine.

Objective: A number of observations have suggested that brain-derived neurotrophic factor (BDNF) plays a role in migraine pathophysiology. This study investigates whether variants in the BDNF gene are associated with migraine in an Australian case-control population.

Background: BDNF has an important role in neural growth, development, and survival in the central nervous system and is an important modulator of central and peripheral pain responses.

The impact of a medical undergraduate student-selected module in palliative care.

Background: The need for undergraduate medical education in palliative care is widely recognised. An optional student-selected module 'Fundamentals of Palliative Medicine' was introduced in 2011 and offered to third-year medical students. The overall objective of the module was to develop students' knowledge, attitudes and skills in palliative care.

Genetic variation in cytokine-related genes and migraine susceptibility.

Migraine is classified by the World Health Organization (WHO) as being one of the top 20 most debilitating diseases. According to the neurovascular hypothesis, neuroinflammation may promote the activation and sensitisation of meningeal nociceptors, inducing the persistent throbbing headache characterized in migraine. The tumor necrosis factor (TNF) gene cluster, made up of TNFα, lymphotoxin α (LTA), and lymphotoxin β (LTB), has been implicated to influence the intensity and duration of local inflammation.

Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.

Background: The excitatory neurotransmitter glutamate has been implicated in both the hyperexcitability required for cortical spreading depression as well as activation of the trigeminovascular system required for the allodynia associated with migraine. Polymorphisms in the glutamate receptor ionotropic amino-3-hydroxy-5-methyl-4-isoxazole-propionin acid 1 (GRIA1) and GRIA3 genes that code for 2 of 4 subunits of the glutamate receptor have been previously associated with migraine in an Italian population. In addition, the GRIA3 gene is coded within a previously identified migraine susceptibility locus at Xq24.

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2).

Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree.

Background: Oestrogen receptor 1 ( ESR1) is located in region 6q25.1 and encodes a ligand-activated transcription factor composed of several domains important for hormone binding and transcription activation. Progesterone receptor ( PGR) is located in 11q22-23 and mediates the role of progesterone interacting with different transcriptional co-regulators.

Medical school attrition-beyond the statistics a ten year retrospective study.

Background: Medical school attrition is important--securing a place in medical school is difficult and a high attrition rate can affect the academic reputation of a medical school and staff morale. More important, however, are the personal consequences of dropout for the student. The aims of our study were to examine factors associated with attrition over a ten-year period (2001-2011) and to study the personal effects of dropout on individual students.

An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12.

Migraine is a common and debilitating neurovascular disorder with a complex envirogenomic aetiology. Numerous studies have demonstrated a preponderance of women affected with migraine and previous pedigree linkage studies in our laboratory have identified susceptibility loci on chromosome Xq24-Xq28. In this study we have used the genetic isolate of Norfolk Island to further analyse the X chromosome for migraine susceptibility loci.

Identification of molecular genetic factors that influence migraine.

Migraine is a common neurological disorder with a strong genetic basis. However, the complex nature of the disorder has meant that few genes or susceptibility loci have been identified and replicated consistently to confirm their involvement in migraine. Approaches to genetic studies of the disorder have included analysis of the rare migraine subtype, familial hemiplegic migraine with several causal genes identified for this severe subtype.