[Acceptability and feasibility among primary care doctors of the opportunistic search for HIV in Health Care centers in Spain]. / Aceptabilidad y factibilidad entre los médicos de atención primaria de la búsqueda oportunista de VIH en los centros de salud de España.

OBJECTIVE: To evaluate the acceptability and feasibility of the opportunistic search of HIV according to primary care doctors' experience. To set up the profile of the physician involved in this study. DESIGN: Observational, transversal study. LOCATION: Primary Care Centers of the National Health System. PARTICIPANTS: General practitioners and residents who participated in VIH-AP study to measure the acceptability of HIV opportunistic search by patients. MAIN MEASUREMENTS: Self-filling survey to collect data on age, sex, teaching skills, amount of years dedicated to research, time working with the same quota of patients, acceptability and feasibility of opportunistic HIV search. RESULTS: A total of 197 physicians with a mean age of 45.2±9.7 (SD) years. 18.8% were under 36years old, 70.1% were women and 62.4% had teaching skills. 55.8% worked in towns with a population over 100,000 inhabitants and the mean of years working with the same quota of patients was 6.4±6.6. 91.9% (95%CI: 88.1-98.7) of them considered the opportunistic search of HIV acceptable and 89.3% (95%CI: 85.0-93.6), feasible to perform. The multivariate analysis showed positive relation between the acceptability/feasibility and teaching skills (OR: 2.74; 95%CI: 1.16-6.49). The acceptance of the screening by patients was 93.1% and this was positively related to how long the doctor had worked with the same quota, teaching skills and the amount of years dedicated to research. CONCLUSIONS: HIV opportunistic search is an acceptable and feasible method for primary care professionals.

[Acceptability of the opportunistic search for human immunodeficiency virus infection by serology in patients recruited in Primary Care Centres in Spain]. / Aceptabilidad de la búsqueda oportunista de la infección por el virus de la inmunodeficiencia humana mediante serología en pacientes captados en centros de atención primaria de España: estudio VIH-AP.

OBJECTIVE: To assess the acceptability of opportunistic search for human immunodeficiency virus (HIV). DESIGN: Cross-sectional, observational study. LOCATION: Primary Care Centres (PCC) of the Spanish National Health Care System. PARTICIPANTS: patients aged 18 to 65 years who had never been tested for HIV, and were having a blood test for other reasons. RECORDED VARIABLES: age, gender, stable partner, educational level, tobacco/alcohol use, reason for blood testing, acceptability of taking the HIV test, reasons for refusing to take the HIV test, and reasons for not having taken an HIV test previously. A descriptive, bivariate, multivariate (logistic regression) statistical analysis was performed. RESULTS: A total of 208 general practitioners (GPs) from 150 health care centres recruited 3,314 patients. Most (93.1%) of patients agreed to take the HIV test (95%CI: 92.2-93.9). Of these patients, 56.9% reported never having had an HIV test before because they considered not to be at risk of infection, whereas 34.8% reported never having been tested for HIV because their doctor had never offered it to them. Of the 6.9% who refused to take the HIV test, 73.9% considered that they were not at risk. According to the logistic regression analysis, acceptability was positively associated to age (higher among between 26 and 35 year olds, OR=1.79; 95%CI: 1.10-2.91) and non-smokers (OR=1.39; 95%CI: 1.01-1.93). Those living in towns with between 10,000 and 50,000 inhabitants showed less acceptance to the test (OR=0.57; 95%CI: 0.40-0.80). The HIV prevalence detected was 0.24% CONCLUSIONS: Acceptability of HIV testing is very high among patients having a blood test in primary care settings in Spain. Opportunistic search is cost-effective.

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.