Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with “cone-first” retinal disease and clinical features atypical for ABCA4 retinopathy. We then conducted a gene-based case-control association study with an internal exome data set as the control group. TTLL5, encoding a tubulin glutamylase, was highlighted as the most likely disease-associated gene; 2 of 28 affected subjects harbored presumed loss-of-function variants: c.[1586_1589delAGAG];[1586_1589delAGAG], p.[Glu529Valfs∗2];[Glu529Valfs∗2], and c.[401delT(;)3354G>A], p.[Leu134Argfs∗45(;)Trp1118∗]. We then inspected previously collected exome sequence data from individuals with related phenotypes and found two siblings with homozygous nonsense variant c.1627G>T (p.Glu543∗) in TTLL5. Subsequently, we tested a panel of 55 probands with retinal dystrophy for TTLL5 mutations; one proband had a homozygous missense change (c.1627G>A [p.Glu543Lys]). The retinal phenotype was highly similar in three of four families; the sibling pair had a more severe, early-onset disease. In human and murine retinae, TTLL5 localized to the centrioles at the base of the connecting cilium. TTLL5 has been previously reported to be essential for the correct function of sperm flagella in mice and play a role in polyglutamylation of primary cilia in vitro. Notably, genes involved in the polyglutamylation and deglutamylation of tubulin have been associated with photoreceptor degeneration in mice. The electrophysiological and fundus autofluorescence imaging presented here should facilitate the molecular diagnosis in further families

Fertility trends in Serbia during the 1990s

The 1990s represent an exceptionally complex period for the population of Serbia. In addition to the impact of long-term factors, various tumultuous events affected its demographic development, such as breaking apart of former Yugoslavia, armed conflicts in the neighboring countries, sanctions imposed by the international community, social changes (transition transformation or regression), deep economic crisis, collapse of social stratification political problems, institutional crisis, and NATO military intervention. Maladjustment to the changed system of values and norms, lower level of personal attainment, feeling of insecurity, and living under permanent stress are the main features of life at an individual psychological level. Deprivation or living at the subsistence level are the main elements of the economic cost sustained by the majority of the population. How have these changes affected an individual's decision to have children? The analysis of futility indicators points to an obvious decline in the number of births across low fertility regions of Serbia. Also, the analysis has raised the question why the decline in population fertility in the low fertility regions was not even higher, bearing in mind the experiences undergone by the countries with economy in transition as well as the depth of the crisis in society. In that sense several factors come to mind. The most important are the universality of marriage socio-psychological investigations confirmed domination of the traditional character or mentality in Serbia during the 1990s, and the government’s approach to the issue of fertility improved during this time. Besides demographic needs were carefully taken into account in all amendments to the old and formulation of the new measures in the area of social policy. Mention should be made of measures ensuring employment rights of women and their entitlement to maternity leave, maternity pay, and provision of institutionalized care for the children. On the other hand under-reporting of live births, lack of knowledge on the size and characteristics of emigration flows limited the analysis of population fertility in Kosovo and Metohia. But, registered data as well as survey results show to the perseverance of the fertility model of transitional type displaying obvious traditional elements

Formalized classification of semi-dry grasslands in central and eastern Europe

European semi-dry grasslands are among the most species-rich vegetation types in the northern hemisphere and form an important part of the habitat mosaics in the forest-steppe zone. However. there is no comprehensive evaluation of the variation in their composition and the phytosocio-logical classification of these grasslands. For the syntaxonomic revision, we used a dataset of 34,173 vegetation plot records (releves) from central and eastern Europe. which were assigned to the class Fesiuco-Bromeiea using the diagnostic species listed in the EuroVegChecklist. To determine the diagnostic species of the orders, we used a TWINSPAN classification of the whole dataset. Of the total dataset, 15,449 releves were assigned to the order Brachypodietalia pinnati. which corresponds to semi-dry grasslands. This subset was again classified using TWINSPAN. Formal definitions of the following alliances were established: Mesobromion erecti, Cirsio-Brachypodion pinnati (incl. Fragario-Trifolion montani. Agrosiio-Avenulion schellianae, Scabioso ochroleucae-Poion angustifoliae and Adonido vernalis-Stipion iirsae), Scorzonerion villosae and Chrysopogono-Danshonion. Another alliance, Armerion elongatae (=Koelerio-Phleion phleoidis p.p.). is transitional towards the class Koelerio-Corynephoreiea and its status needs further evaluation. We also established formal definitions of all of the associations of Mesobromion and Cirsio-Brachypodion within the area studied. Associations were identified using (i) a TWINSPAN classification of the whole order, (ii) TWINSPAN classifications of regionally restricted data sets (usually all Brachypodietalia plots in one country) and (iii) existing national classification schemes. All formal definitions were written in the expert system language of the JUICE program. To obtain a more complete picture of the floristic similarities and gradients. we performed a DCA ordination of the associations. Our results revealed that meadow steppes in the forest-steppe zone in eastern Europe are very similar to semi-dry grasslands in central Europe

How does the quality of surveys for nutrient intake adequacy assessment compare across Europe? A scoring system to rate the quality of data in such surveys

Research was conducted within the EURopean micronutrient RECommendations Aligned (EURRECA) Network of Excellence, to find the best practice in assessing nutrient intakes. Objectives include: to search for and use data on individual nutrient intake adequacy (NIA) assessment collected in twenty-eight European countries and the four European Free Trade Association countries: to design and test innovative tools for data quality analysis. The information was obtained using the method described by Blanquer et al. in the present issue. The best-practice criteria were devised to select the most appropriate survey in each country. Then a survey quality scoring system was developed in consultation with experts and tested on these surveys. Weights were allocated according to a variable priority order agreed by consultation. The thirty-two Countries yielded twenty-four national surveys (eight countries excluded). Data collection techniques: eleven countries/surveys used personal interviews only; six used combinations of techniques. Dietary assessment methods: two used repeated 24h recalls only: eleven used combinations. NIA assessment methods: two used probabilistic approach and SD/Z-scores only; eleven used comparison with estimated average requirements/RDA only. Countries were ranked according to the survey quality scoring, but careful interpretation is needed because of incomplete data from some surveys bearing this in mind, the information quality is high in 37.5% countries, medium in 50.0% and low in 12.5%. Although there is room for improvement and caution should be taken when drawing conclusions and recommendations from these results, the lessons learned and tools developed at this first attempt form the basis for future work within the EURRECA framework for aligning European micronutrient recommendations

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat