Indoor environmental conditions (thermal, noise, light, and indoor air quality) may affect workers’ comfort, and consequently their health and well-being, as well as their productivity. This study aimed to assess the relations between perceived indoor environment and occupants’ comfort, and to examine the modifying effects of both personal and building characteristics. Within the framework of the European project OFFICAIR, a questionnaire survey was administered to 7441 workers in 167 “modern” office buildings in eight European countries (Finland, France, Greece, Hungary, Italy, The Netherlands, Portugal, and Spain). Occupants assessed indoor environmental quality (IEQ) using both crude IEQ items (satisfaction with thermal comfort, noise, light, and indoor air quality), and detailed items related to indoor environmental parameters (e.g., too hot/cold temperature, humid/dry air, noise inside/outside, natural/artificial light, odor) of their office environment. Ordinal logistic regression analyses were performed to assess the relations between perceived IEQ and occupants’ comfort. The highest association with occupants’ overall comfort was found for “noise”, followed by “air quality”, “light” and “thermal” satisfaction. Analysis of detailed parameters revealed that “noise inside the buildings” was highly associated with occupants’ overall comfort. “Layout of the offices” was the next parameter highly associated with overall comfort. The relations between IEQ and comfort differed by personal characteristics (gender, age, and the Effort Reward Imbalance index), and building characteristics (office type and building’s location). Workplace design should take into account both occupant and the building characteristics in order to provide healthier and more comfortable conditions to their occupants.

Background: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. Objectives: To better characterise the natural history of PMM2-CDG. Methods: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients. Results: The patients were born between 1963 and 2011. Diagnosis of PMM2-CDG was made at a mean (SD) age of 6.8 (8.5) years. The presenting signs were mostly neurological (hypotonia, intellectual disability, cerebellar syndrome) and observed in almost all the patients. A total of 38 patients (14 males, 24 females) exhibited, in addition to neurological signs, visceral features including at least one of these: feeding difficulty requiring a nutritional support (n=23), cardiac features (n=20; pericarditis: 14, cardiac malformation: 9, cardiomyopathy: 2), hepato-gastrointestinal features (n=12; chronic diarrhoea: 7, protein-losing enteropathy: 1, ascites: 3, liver failure: 1, portal hypertension: 1), kidney features (n=4; nephrotic syndrome: 2, tubulopathy: 2) and hydrops fetalis (n=1). Twelve patients died at a mean age of 3.8 years (especially from pericarditis and other cardiac issues). Laboratory abnormalities mostly included elevated transaminases and abnormal coagulation parameters. High thyreostimulin levels, hypocholesterolemia, hypoalbuminemia and elevated transaminases were associated with the visceral phenotype. Besides the common Arg141His PMM2 variant harboured by half of the patients, 45 different variants were observed. Conclusions: PMM2-CDG clinical phenotype is heterogeneous in terms of clinical course, with no clear division between neurological and visceral presentations.

This cross-sectional study aimed to determine which objective built environmental factors, identified using a virtual neighbourhood audit, were associated with cycling for transport in adults living in five urban regions across Europe. The moderating role of age, gender, socio-economic status and country on these associations was also investigated. Overall, results showed that people living in neighbourhoods with a preponderance of speed limits below 30km/h, many bicycle lanes, with less traffic calming devices, more trees, more litter and many parked cars forming an obstacle on the road were more likely to cycle for transport than people living in areas with lower prevalence of these factors. Evidence was only found for seven out of 56 possible moderators of these associations. These results suggest that reducing speed limits for motorized vehicles and the provision of more bicycle lanes may be effective interventions to promote cycling in Europe.

Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management. Sixteen patients diagnosed with LPI (12 males, 4 females, from 9 families) were followed for a mean of 11.4 years (min-max: 0.4-37.0 years). Presenting signs were failure to thrive (n = 9), gastrointestinal disorders (n = 2), cytopenia (n = 6), hyperammonemia (n = 10) with acute encephalopathy (n = 4) or developmental disability (n = 3), and proteinuria (n = 1). During follow-up, 5 patients presented with acute hyperammonemia, and 8 presented with developmental disability. Kidney disease was observed in all patients: tubulopathy (11/11), proteinuria (4/16) and kidney failure (7/16), which was more common in older patients (mean age of onset 17.7 years, standard deviation 5.33 years), with heterogeneous patterns including a lupus nephritis. We noticed a case of myocardial infarction in a 34-year-old adult. Failure to thrive and signs of haemophagocytic-lymphohistiocytosis were almost constant. Recurrent acute pancreatitis occurred in 2 patients. Ten patients developed an early lung disease. Six died at the mean age of 4 years from pulmonary alveolar proteinosis. This pulmonary involvement was significantly associated with death. Age-adjusted plasma lysine concentrations at diagnosis showed a trend toward increased values in patients with a severe disease course and premature death (Wilcoxon p = 0.08; logrank, p = 0.17). Age at diagnosis was a borderline predictor of overall survival (logrank, p = 0.16). As expected, early pulmonary involvement with alveolar proteinosis is frequent and severe, being associated with an increased risk of death. Kidney disease frequently occurs in older patients. Cardiovascular and pancreatic involvement has expanded the scope of complications. A borderline association between increased levels of plasma lysine and poorer outome is suggested. Greater efforts at prevention are warranted to optimise the long-term management in these patients.