Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence.

Objective: To determine the characteristics of children with fetal alcohol spectrum disorders (FASD) and their mothers in a Midwestern city.

Methods: Case-control samples were drawn from 2 separate first-grade cohorts (combined N = 4,047) in every city school using different methods. In Cohort Sample 1, all consented small children (≤25th centile on height, weight, and/or head circumference) entered the study along with a random sample from all enrolled students.

Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence.

Objective: To document prevalence and traits of children with fetal alcohol spectrum disorders (FASD) and maternal risk factors in a Rocky Mountain city.

Methods: Variations on active case ascertainment methods were used in 2 first-grade cohorts in all city schools. The consent rate was 59.

Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.

Parkinson's disease (PD) is a neurodegenerative disorder caused by a complex interplay of genetic and environmental factors. For the stratification of PD patients and the development of advanced clinical trials, including causative treatments, a better understanding of the underlying genetic architecture of PD is required. Despite substantial efforts, genome-wide association studies have not been able to explain most of the observed heritability.

Pragmatic randomised evaluation of stable thoracolumbar fracture treatment outcomes (PRESTO): study protocol for a randomised controlled feasibility trial combined with a qualitative study and survey.

Background: A thoracolumbar fracture is the most common fracture of the spinal column. Where the fracture is not obviously stable or unstable, the optimal management is uncertain. There are variations between surgeons, treating centres and within the evidence base as to whether surgical or non-surgical approaches should be used.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.

Background: Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has not yet been investigated on a genome-wide scale.

Characterizing Alcohol-Related Neurodevelopmental Disorder: Prenatal Alcohol Exposure and the Spectrum of Outcomes.

Background: The effects of prenatal alcohol exposure (PAE) are conceptualized as fetal alcohol spectrum disorder, with fetal alcohol syndrome (FAS) as the most severe. Many find it more difficult to characterize behavioral and cognitive effects of exposure on the central nervous system when physical signs are not present. In the current study, an operational definition of alcohol-related neurodevelopmental disorder (ARND) was examined to determine its usefulness in discrimination of children classified as ARND based on behavior (ARND/B) and cognition (ARND/C) from children in 4 contrast groups: (i) children exposed to study-defined "risky drinking"; (ii) children with any reported PAE; (iii) children classified as "Higher Risk" for developmental problems; and (iv) children classified as "Lower Risk.

Population-based palliative care planning in Ireland: how many people will live and die with serious illness to 2046?

All countries face growing demand for palliative care services.  Projections of need are essential to plan care in an era of demographic change.   We aim to estimate palliative care needs in Ireland from 2016 to 2046.

End-of-life experience for older adults in Ireland: results from the Irish longitudinal study on ageing (TILDA).

Background: End-of-life experience is a subject of significant policy interest. National longitudinal studies offer valuable opportunities to examine individual-level experiences. Ireland is an international leader in palliative and end-of-life care rankings.

Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk.

Background: Parkinson's disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple variants associated with sporadic PD were discovered via association studies.

Methods: We studied the whole-exome sequencing data of 340 PD cases and 146 ethnically matched controls from the Parkinson's Progression Markers Initiative (PPMI) and performed burden analysis for different rare variant classes.

Nitrogen in Diamond.

Nitrogen is ubiquitous in both natural and laboratory-grown diamond, but the number and nature of the nitrogen-containing defects can have a profound effect on the diamond material and its properties. An ever-growing fraction of the supply of diamond appearing on the world market is now lab-grown. Here, we survey recent progress in two complementary diamond synthesis methods-high pressure high temperature (HPHT) growth and chemical vapor deposition (CVD), how each is allowing ever more precise control of nitrogen incorporation in the resulting diamond, and how the diamond produced by either method can be further processed (e.

Economics of Palliative Care for Cancer: Interpreting Current Evidence, Mapping Future Priorities for Research.

The National Cancer Institute estimates that $154 billion will be spent on care for people with cancer in 2019, distributed across the year after diagnosis (31%), the final year of life (31%), and continuing care between those two (38%). Projections of future costs estimate persistent growth in care expenditures. Early research studies on the economics of palliative care have reported a general pattern of cost savings during inpatient hospital admissions and the end-of-life phase.

Improving palliative and end-of-life care with machine learning and routine data: a rapid review.

Improving end-of-life (EOL) care is a priority worldwide as this population experiences poor outcomes and accounts disproportionately for costs. In clinical practice, physician judgement is the core method of identifying EOL care needs but has important limitations. Machine learning (ML) is a subset of artificial intelligence advancing capacity to identify patterns and make predictions using large datasets.

Assessing Cognitive Functioning in People Living With HIV (PLWH): Factor Analytic Results From CHARTER and NNTC Cohorts.

Background: Single summary scores, such as the Global Deficit Score, are often used to classify overall performance on neuropsychological batteries. The factor structure of test scores that underlie Global Deficit Score in studies of people living with HIV (PLWH) was assessed to determine whether individual test scores loaded onto a unitary factor to summarize performance.

Setting: Secondary data analysis on baseline data of PLWH from National NeuroAIDS Tissue Consortium and CNS HIV Antiretroviral Therapy Effects Research (CHARTER) Study.

Pupillary light reflex circuits in the macaque monkey: the preganglionic Edinger-Westphal nucleus.

The motor outflow for the pupillary light reflex originates in the preganglionic motoneuron subdivision of the Edinger-Westphal nucleus (EWpg), which also mediates lens accommodation. Despite their importance for vision, the morphology, ultrastructure and luminance-related inputs of these motoneurons have not been fully described in primates. In macaque monkeys, we labeled EWpg motoneurons from ciliary ganglion and orbital injections.

Identification of pathogenic variant enriched regions across genes and gene families.

Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene-family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2871 gene-family protein sequence alignments involving 9990 genes and performed missense variant burden analyses to identify novel essential protein regions.

Pupillary light reflex circuits in the Macaque Monkey: the olivary pretectal nucleus.

The olivary pretectal nucleus is the first central connection in the pupillary light reflex pathway, the circuit that adjusts the diameter of the pupil in response to ambient light levels. This study investigated aspects of the morphology and connectivity of the olivary pretectal nucleus in macaque monkeys by use of anterograde and retrograde tracers. Within the pretectum, the vast majority of neurons projecting to the preganglionic Edinger-Westphal nucleus were found within the olivary pretectal nucleus.

Biochar and compost equally improve urban soil physical and biological properties and tree growth, with no added benefit in combination.

Soil compaction can be a major impediment to tree growth as it damages soil physical and biological properties and reduces plant available water. This may result in trees that are more vulnerable to seasonal water stress. Improving soil physical and biological properties by increasing soil organic matter content may lead to improved tree establishment.

Preparation and biological evaluation of BACE1 inhibitors: Leveraging trans-cyclopropyl moieties as ligand efficient conformational constraints.

Inhibition of BACE1 has become an important strategy in the quest for disease modifying agents to slow the progression of Alzheimer's disease. We previously reported the fragment-based discovery of LY2811376, the first BACE1 inhibitor reported to demonstrate robust reduction of human CSF Aβ in a Phase I clinical trial. We also reported on the discovery of LY2886721, a potent BACE1 inhibitor that reached phase 2 clinical trials.

Predicting the risk of kidney stone formation in the nephron by 'reverse engineering'.

Although most kidney stones are found in the calyx, they are usually initiated upstream in the nephron by precipitation there of certain incipient mineral phases. The risk of kidney stone formation can thus be indicated by changes in the degree of saturation of these minerals in the nephron fluid. To this end, relevant concentration profiles in the fluid along the nephron have been calculated by starting with specified urine compositions and imposing constraints from the corresponding, much less variable, blood compositions.

Early-Life Predictors of Fetal Alcohol Spectrum Disorders.

Background And Objectives: Fetal alcohol spectrum disorders (FASD) comprise the continuum of disabilities associated with prenatal alcohol exposure. Although infancy remains the most effective time for initiation of intervention services, current diagnostic schemes demonstrate the greatest confidence, accuracy, and reliability in school-aged children. Our aims for the current study were to identify growth, dysmorphology, and neurodevelopmental features in infants that were most predictive of FASD at age 5, thereby improving the timeliness of diagnoses.

iRhom2 inhibits bile duct obstruction-induced liver fibrosis.

Chronic liver disease can induce prolonged activation of hepatic stellate cells, which may result in liver fibrosis. Inactive rhomboid protein 2 (iRhom2) is required for the maturation of A disintegrin and metalloprotease 17 (ADAM17, also called TACE), which is responsible for the cleavage of membrane-bound tumor necrosis factor-α (TNF-α) and its receptors (TNFRs). Here, using the murine bile duct ligation (BDL) model, we showed that the abundance of iRhom2 and activation of ADAM17 increased during liver fibrosis.

"The Dop System of Alcohol Distribution is Dead, but It's Legacy Lives On….".

Determine the prevalence of Dop, a system of labor payment via alcoholic beverages, in a South African province, and its influence on maternal drinking and fetal alcohol spectrum disorders (FASD). Data from studies of FASD epidemiology were analyzed. Forty-two percent to 67% of mothers reported drinking.