The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g.

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

Objective: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings.

Materials And Methods: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals.

How sea level change mediates genetic divergence in coastal species across regions with varying tectonic and sediment processes.

Plate tectonics and sediment processes control regional continental shelf topography. We examine the genetic consequences of how glacial-associated sea level change interacted with variable nearshore topography since the last glaciation. We reconstructed the size and distribution of areas suitable for tidal estuary formation from the last glacial maximum, ~20 thousand years ago, to present from San Francisco, California, USA (~38°N) to Reforma, Sinaloa, Mexico (~25°N).

United Kingdom: Health System Review.

This analysis of the United Kingdom health system reviews recent developments in organization and governance, health financing, health care provision, health reforms and health system performance. It provides an overview of how the national health services operate in the four nations that make up the United Kingdom, as responsibility for organizing health financing and services was devolved from 1997. With devolution, the health systems in the United Kingdom have diverged in the details of how services are organized and paid for, but all have maintained national health services which provide universal access to a comprehensive package of services that are mostly free at the point of use.

Relationship Between Nonsteroidal Anti-inflammatory Drugs and Fall Risk in Older Adults.

Approximately 20% to 30% of older adults use nonsteroidal anti-inflammatory drugs (NSAIDs) daily. While some NSAIDs are known to cause adverse central nervous system effects, the risk of falls associated with NSAID use in older adults has not been as closely scrutinized as it has with other pain medications. This article reviews 16 studies evaluating NSAID use by older adults and subsequent fall risk.

Chriolepis prolata, a new species of Atlantic goby (Teleostei: Gobiidae) from the North American continental shelf.

A new species of seven-spined goby of the genus Chriolepis is described from five specimens collected from the continental shelf of the northeastern Gulf of Mexico and Atlantic Ocean off South Carolina in depths of ca 54 to 110 m. The "Platform Goby", Chriolepis prolata, is distinguishable from all other western Atlantic species currently assigned to the genus Chriolepis and the morphologically similar genus Varicus in having pelvic-fin rays one through four branched, the fifth (innermost) pelvic-fin ray unbranched and relatively long (longer than the second ray to longer than all other pelvic-fin rays); most lateral body scales ctenoid, extending anteriorly in a wedge to a level anterior to the first dorsal-fin insertion or nearly to the pectoral-fin axil, with two or more rows of small cycloid scales extending anteriorly to near the pectoral-fin axil, cycloid scales along the bases of the dorsal and anal fins, and no scales on the belly; and the first two anal-fin pterygiophores inserted anterior to the first haemal spine. It closely resembles C.

Convergent evolution of ecomorphological adaptations in geographically isolated Bay gobies (Teleostei: Gobionellidae) of the temperate North Pacific.

North Pacific Bay gobies (Teleostei: Gobioidei: Gobionellidae) inhabit bays, beaches, coastal lagoons, and estuaries of temperate Asia and North America, but are absent from the boreal northernmost Pacific. Previously, morphological characters conventionally subdivided the clade into two groups - an elongate-bodied, infaunal-inhabiting "Astrabe" group, and a deeper-bodied, non-infaunal "Chasmichthys" group - each with a disjunct East-West (amphi-) Pacific distribution. Here we use mitochondrial and multi-locus nuclear DNA sequence data to show that several morphological characters previously used to delimit these two groups have in fact arisen independently on both sides of the Pacific, revealing convergence of ecologically adaptive characters within a geographically divided clade.

Chriolepis bilix, a new species of goby (Teleostei: Gobiidae) from deep waters of the western Atlantic.

A new species of seven-spined goby of the genus Chriolepis is described from four specimens from four widely separate western Atlantic localities (Little Bahama Bank; off southwestern Florida; Tobago Island; and northeastern Colombia) from depths ranging from 62 to 138 m. The species is distinct from all other western Atlantic species currently assigned to the genus Chriolepis in having a fully scaled body, the first two dorsal-fin spines greatly elongated in both sexes, especially so in females, and two anal-fin pterygiophores inserted anterior to the first haemal spine. It differs from members of the similar genus Varicus in having branched pelvic-fins rays, a longer fifth pelvic-fin ray and more numerous meristic elements.

A cost-effectiveness analysis of levodopa/carbidopa intestinal gel compared to standard care in late stage Parkinson's disease in the UK.

Objective: Evaluation of cost-effectiveness of levodopa/carbidopa intestinal gel (LCIG), compared to standard care (SC) in patients with advanced Parkinson's disease (aPD) in the UK.

Design: Markov model to quantify costs and outcomes associated with LCIG versus SC in aPD patients at Hoehn and Yahr (H&Y) stages 3, 4 or 5 experiencing >50% OFF time per day. Time horizon was lifetime, LCIG treatment was assumed to last maximal 5 years after which patients revert to SC.

The economic burden of advanced Parkinson’s disease: an analysis of a UK patient dataset.

Background: To evaluate the cost burden of patients with advanced Parkinson's disease (PD) according to the waking hours per day spent in OFF state. An analysis of resource use comprising medical services, professional care and informal care data from an observational, cross-sectional study was conducted.

Methods: A total of 60 physicians comprising 40 neurologists and 20 geriatricians across the UK participating in the Adelphi PD Disease Specific Programme took part.

A basic smell test is as sensitive as a dopamine transporter scan: comparison of olfaction, taste and DaTSCAN in the diagnosis of Parkinson's disease.

Aim: To evaluate relationship between odour identification, taste threshold, dopamine transporter scan (DaTSCAN) and motor function in early Parkinson's disease (PD) and their diagnostic accuracy.

Methods: Seventy-three patients with early parkinsonism were evaluated by the Unified Parkinson's Disease Rating Scale (UPDRS), DaTSCAN, electrogustometry (EGM) threshold and University of Pennsylvania Smell Identification Test (UPSIT). Olfactory Event-Related potentials (OERP) were performed on 49 patients.

Abnormality of taste and smell in Parkinson's disease.

Background: Smell sense is impaired in classic Parkinson's disease (PD). An initial study found no change in taste threshold in non-demented PD subjects and pathological studies suggest that the first relay for taste, the nucleus of the solitary tract, is spared. We wished to determine if taste is abnormal in PD and whether it is associated with smell dysfunction.

Olfactory tests in the diagnosis of essential tremor.

Most patients with tremor-dominant Parkinson's disease (PD) have impaired smell function but it is unclear whether this is true for subjects with essential tremor (ET). If ET patients do not exhibit meaningful smell loss, then olfactory testing may help to distinguish PD from ET. We assessed olfactory function in 59 ET and 64 tremor-dominant PD patients using the University of Pennsylvania Smell Identification Test (UPSIT) and olfactory event-related potential (OERP).

The economic impact of Parkinson's disease.

Patients with Parkinson's disease (PD) experience progressive disability and reduced quality of life due to both motor and non-motor complications. The cost of illness escalates as PD progresses, placing an economic burden on the healthcare system, society and patients themselves. Overall cost estimates vary from country to country, but the largest component of direct cost is typically inpatient care and nursing home costs, while prescription drugs are the smallest contributor.

A multicentre longitudinal observational study of changes in self reported health status in people with Parkinson's disease left untreated at diagnosis.

Background: The issue of when to start treatment in Parkinson's disease (PD) remains controversial. Some favour treatment at diagnosis while others opt for a "wait and watch" policy. The effect of the latter policy on the self reported health status of people with PD is unknown.

Cost-effectiveness of levodopa/carbidopa/entacapone (Stalevo) compared to standard care in UK Parkinson's disease patients with wearing-off.

Background And Methods: A Markov model was developed to evaluate the cost-effectiveness of levodopa/carbidopa/entacapone (LCE;Stalevo), in the treatment of patients with Parkinson's disease (PD) and end-of-dose motor fluctuations (wearing-off). LCE, with or without other antiparkinsonian medications, was compared to UK standard care, comprising traditional levodopa/ dopa-decarboxylase inhibitor (DDCI) with other antiparkinsonian medications (e.g.

Retrospective evaluation of the dose of Dysport and BOTOX in the management of cervical dystonia and blepharospasm: the REAL DOSE study.

The purpose of this study is to evaluate the real-world dose utilization of Dysport and BOTOX for cervical dystonia and blepharospasm. Six investigational sites (five countries) were identified. Investigators abstracted utilization data for patients who received Dysport before switching to BOTOX or BOTOX before switching to Dysport.

The Parkinson fatigue scale.

Background: In recent years several studies have highlighted the clinical significance of fatigue in Parkinson's disease. While we are becoming aware of its prevalence and impact on the lives of patient, little progress has been made in understanding its nature or aetiology, nor on finding ways to manage the problem clinically. One possible reason for the slow pace of progress is the lack of an appropriate instrument to measure fatigue in Parkinson's disease and related disorders.

A randomly assigned double-blind cross-over study examining the relative anti-parkinsonian tremor effects of pramipexole and pergolide.

This study examined the relative anti-Parkinson's disease (PD) tremor potencies of pergolide and pramipexole in people with PD, using a 3-month double-blind cross-over design. Patients were randomly assigned to receive either pergolide and then pramipexole (n=9) or vice versa (n=8). The dose of the respective dopamine agonist was increased according to a titration schedule up to a maximum 1.

Nature vs. nurture: two brothers with schizophrenia.

Topic: The nature vs. nurture argument as it pertains to two brothers.

Purpose: To explore the synergistic effects of heritability and environment in the cases of two brothers with schizophrenia.

Reducing motor-vehicle collisions, costs, and fatalities by treating obstructive sleep apnea syndrome.

Study Objectives: Drivers suffering from obstructive sleep apnea syndrome (OSAS) have an increased risk for being involved in motor-vehicle collisions. This study estimates, for the first time, the annual OSAS-related collisions, costs, and fatalities in the United States and performs a cost-benefit analysis of treating drivers suffering from OSAS with continuous positive airway pressure (CPAP).

Design: The MEDLINE-PubMed database (1980 to 2003) was searched for information on OSAS.