A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands

Background: The most common genetic risk factor for Parkinson’s disease known is a damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a large cohort from a single population. The objective of this study was to assess the entire GBA1 gene in Parkinson’s disease from a single large population. Methods: The GBA1 gene was assessed in 3402 Dutch Parkinson’s disease patients using nextgeneration sequencing. Frequencies were compared with Dutch controls (n = 655). Family history of Parkinson’s disease was compared in carriers and noncarriers. Results: Fifteen percent of patients had a GBA1 nonsynonymous variant (including missense, frameshift, and recombinant alleles), compared with 6.4% of c

Discussing sexuality with patients with Parkinson's disease: a survey among Dutch neurologists

Sexual functioning is often impaired in patientswith Parkinson’s disease (PD) and may affect quality oflife of patients and their spouse. However, little is knownabout the practice patterns of neurologists with regard todiscussing sexuality in this field. The aim of this cross-sectional study was to evaluate to what extent neurologistsdiscuss sexuality with PD patients. A 22-item questionnairewas sent to 139 neurologists specializing in PD. The surveycontained questions about their attitudes, knowledge, andpractice patterns with respect to sexual dysfunction (SD) inpatients with PD. The response rate of the survey was66.9%. Most participants (56.8%) stated that they addresssexuality in less than half of their PD patients. High age ofpatients (42.0%), insufficient consultation time (37.5%),and a lack of patients’ initiative to raise the topic them-selves (36.4%) were frequently reported barriers towardsdiscussing sexuality. The majority of participants consid-ered that discussing sexuality is a responsibility that laywith neurologists (85.2%), nurses (73.9%), and patients(72.7%). One quarter of the neurologists reported to haveinsufficient or no knowledge on SD. The majority of par-ticipants regarded screening for SD important or slightlyimportant (85.2%). A large proportion of Dutch neurolo-gists specializing in PD do not routinely discuss sexualitywith their PD patients. Sexual healthcare in PD patientsmay benefit from time-efficient tools and agreements onwho is responsible for discussing SD. Furthermore, rec-ommendations in PD guidelines on screening and manag-ing SD should be adapted to fit everyday practicehttps://creativecommons.org/licenses/by/4.0/ CC BY 4.0https://creativecommons.org/licenses/by/4.0

Human immunodeficiency virus continuum of care in 11 european union countries at the end of 2016 overall and by key population: Have we made progress?

Background. High uptake of antiretroviral treatment (ART) is essential to reduce human immunodeficiency virus (HIV) transmission and related mortality; however, gaps in care exist. We aimed to construct the continuum of HIV care (CoC) in 2016 in 11 European Union (EU) countries, overall and by key population and sex. To estimate progress toward the Joint United Nations Programme on HIV/AIDS (UNAIDS) 90-90-90 target, we compared 2016 to 2013 estimates for the same countries, representing 73% of the population in the region. Methods. A CoC with the following 4 stages was constructed: number of people living with HIV (PLHIV); proportion of PLHIV diagnosed; proportion of those diagnosed who ever initiated ART; and proportion of those ever treated who achieved viral suppression at their last visit. Results. We estimated that 87% of PLHIV were diagnosed; 92% of those diagnosed had ever initiated ART; and 91% of those ever on ART, or 73% of all PLHIV, were virally suppressed. Corresponding figures for men having sex with men were: 86%, 93%, 93%, 74%; for people who inject drugs: 94%, 88%, 85%, 70%; and for heterosexuals: 86%, 92%, 91%, 72%. The proportion suppressed of all PLHIV ranged from 59% to 86% across countries. Conclusions. The EU is close to the 90-90-90 target and achieved the UNAIDS target of 73% of all PLHIV virally suppressed, significant progress since 2013 when 60% of all PLHIV were virally suppressed. Strengthening of testing programs and treatment support, along with prevention interventions, are needed to achieve HIV epidemic control