The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014

The Swiss National Registry for Primary Immunodeficiency Disorders (PID) was established in 2008, constituting a nationwide network of paediatric and adult departments involved in the care of patients with PID at university medical centres, affiliated teaching hospitals and medical institutions. The registry collects anonymized clinical and genetic information on PID patients and is set up within the framework of the European database for PID, run by the European Society of Immunodeficiency Diseases. To date, a total of 348 patients are registered in Switzerland, indicating an estimated minimal prevalence of 4·2 patients per 100 000 inhabitants. Distribution of different PID categories, age and gender are similar to the European cohort of currently 19 091 registered patients: 'predominantly antibody disorders' are the most common diseases observed (n = 217/348, 62%), followed by 'phagocytic disorders' (n = 31/348, 9%). As expected, 'predominantly antibody disorders' are more prevalent in adults than in children (78 versus 31%). Within this category, 'common variable immunodeficiency disorder' (CVID) is the most prevalent PID (n = 98/217, 45%), followed by 'other hypogammaglobulinaemias' (i.e. a group of non-classified hypogammaglobulinaemias) (n = 54/217, 25%). Among 'phagocytic disorders', 'chronic granulomatous disease' is the most prevalent PID (n = 27/31, 87%). The diagnostic delay between onset of symptoms and diagnosis is high, with a median of 6 years for CVID and more than 3 years for 'other hypogammaglobulinaemias'.

An assessment of risk of osteogenic sarcoma from exposure to radium

The etiology of the vast majority of osteosarcoma deaths has not been explained. A possible explanation might be lifetime ingestion of radium from environmental sources which might give rise to differential risk. This study was an effort toward understanding the role of naturally occurring radium in the etiology of bone cancer. Furthermore, there was an interest in the interaction of between radionuclides and selenium; the latter believed to be a potential anticarcinogen.^ Two approaches were used to evaluate the association between environmental radium, selenium and osteogenic sarcoma: (1) spatial and temporal patterns of osteogenic sarcoma mortality in Texas were described for the period from 1969 to 1988; and (2) a case-control study was performed using 974 osteosarcoma deaths and category-matched controls selected from other deaths to evaluate the association between this disease and residency history as an indirect measure of radium and selenium exposures.^ Analyses and comparison of mortality in a population exposed to regions of elevated levels of radium 226,228 and elevated levels of selenium in drinking water with those in a matched control population have resulted in three observations: (1) there appeared to be a slight protective effect for residing in areas high in radium; (2) there were no significant differences between cases and controls when observed for length of residence or residence in urban/rural regions of high or low radium; and (3) although regions high in selenium appeared to have a decreased risk for bone cancer and urban areas in regions of elevated selenium showed an increased risk of bone cancer, these differences were not significant. ^

European lobsters (Homarus gammarus) captured around the rocky island of Helgoland (German Bight, North Sea) from 2005 to 2015 - A mark-recapture program -

European lobsters were captured by employees of the Marine Biological Station and local fishermen from the rocky subtidal zone around the island of Helgoland (North Sea, 54°11.3'N, 7°54.0'E) and from the Helgoland Deep Trench, located south west of the island. The animals were captured by pots, traps, trawl and divers. All measured lobsters were tagged and released. A tagged lobster was classified by the absence or presence of colour tag and/or T-bar tag. Data of lobsters contains capture date, fresh weight, carapace lengths, sex and the information if lobsters were egg-bearing and tagged. Furthermore, data of commercial landed lobsters are included.

Time series of zooplankton abundance at station L4 in the English Channel from 1988 to 2011

Ongoing zooplankton research at the Plymouth Marine Laboratory has established a time series of zooplankton species since 1988 at L4, a coastal station off Plymouth. Samples were collected by vertical net hauls (WP2 net, mesh 200 µm; UNESCO 1968) from the sea floor (approximately 50 m) to the surface and stored in 4% formalin. Much of the zooplankton analysis has been to the level of "major taxonomic groups" only, and a number of different analysts have participated over the years. The level of expertise has generally been consistent, but the user should be aware that levels of taxonomic discrimination may vary during the course of the dataset. The dominant calanoid copepods are generally well discriminated to species throughout. Calanus has not been routinely examined for species determination, the assumption being that the local population is entirely composed of Calanus helgolandicus. In certain years there has been a particular interest in Temora stylifera, Centropages cherchiae and other species reflected in the dataset. The lack of records in other previous years does not necessarily reflect species absence. We view it as essential for all users of L4 plankton data to establish and maintain contact with the nominated current data originators as well as fully consulting the metadata. While not impinging on free data access, this ensures that this large, species-rich but slightly complex species database is being used in the correct way, and any potential issues with the data are clarified. Furthermore, a proper dialogue with these local experts on the time series will enable where appropriate the most recent sampling timepoints to be used. The data can be downloaded from BODC or from doi:10.1594/PANGAEA.778092 as files for each year by searching for "L4 zooplankton". The most comprehensive dataset is the version downloadable directly from this page. The entire set of zooplankton samples is stored at the Plymouth Marine Laboratory in buffered formalin, and may be available for further taxonomic analysis on request.

Abundance of mesozooplankton in central Adriatic Sea from 1959 to 1991 at Stoncica Station

The dataset is composed of 50 years of approximately monthly mesozooplankton sampling at station Stoncica. The volume of filtered water was estimated assuming 70% efficiency of the Hensen 330 micrometer mesh size net according to Laevastu (1958). Subsamples amounting to 1/20 of the catch were counted for the most representative groups. The whole catch was examined for rare species.The results in the datatables are recalculated to (#/m**3).

Transient “deafness” accompanies auditory development during metamorphosis from tadpole to frog

During metamorphosis, ranid frogs shift from a purely aquatic to a partly terrestrial lifestyle. The central auditory system undergoes functional and neuroanatomical reorganization in parallel with the development of new sound conduction pathways adapted for the detection of airborne sounds. Neural responses to sounds can be recorded from the auditory midbrain of tadpoles shortly after hatching, with higher rates of synchronous neural activity and lower sharpness of tuning than observed in postmetamorphic animals. Shortly before the onset of metamorphic climax, there is a brief “deaf” period during which no auditory activity can be evoked from the midbrain, and a loss of connectivity is observed between medullary and midbrain auditory nuclei. During the final stages of metamorphic development, auditory function and neural connectivity are restored. The acoustic communication system of the adult frog emerges from these periods of anatomical and physiological plasticity during metamorphosis.

Ecological study of reasons for sharp decline in mortality from ischaemic heart disease in Poland since 1991

Objective: To investigate the reasons for the decline in deaths attributed to ischaemic heart disease in Poland since 1991 after two decades of rising rates.

From hematopoiesis to neuropoiesis: Evidence of overlapping genetic programs

It is reasonable to propose that gene expression profiles of purified stem cells could give clues for the molecular mechanisms of stem cell behavior. We took advantage of cDNA subtraction to identify a set of genes selectively expressed in mouse adult hematopoietic stem cells (HSC) as opposed to bone marrow (BM). Analysis of HSC-enriched genes revealed several key regulatory gene candidates, including two novel seven transmembrane (7TM) receptors. Furthermore, by using cDNA microarray techniques we found a large set of HSC-enriched genes that are expressed in mouse neurospheres (a population greatly enriched for neural progenitor cells), but not present in terminally differentiated neural cells. In situ hybridization demonstrated that many of them, including one HSC-enriched 7TM receptor, were selectively expressed in the germinal zones of fetal and adult brain, the regions harboring mouse neural stem cells. We propose that at least some of the transcripts that are selectively and commonly expressed in two or more types of stem cells define a functionally conserved group of genes evolved to participate in basic stem cell functions, including stem cell self-renewal.

Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis.

We have previously linked aging, carcinogenesis, and de novo methylation within the promoter of the estrogen receptor (ER) gene in human colon. We now examine the dynamics of this process for the imprinted gene for insulin-like growth factor II (IGF2). In young individuals, the P2-4 promoters of IGF2 are methylated exclusively on the silenced maternal allele. During aging, this promoter methylation becomes more extensive and involves the originally unmethylated allele. Most adult human tumors, including colon, breast, lung, and leukemias, exhibit increased methylation at the P2-4 IGF2 promoters, suggesting further spreading during the neoplastic process. In tumors, this methylation is associated with diminished or absent IGF2 expression from the methylated P3 promoter but maintained expression from P1, an upstream promoter that is not contained within the IGF2 CpG island. Our results demonstrate a remarkable evolution of methylation patterns in the imprinted promoter of the IGF2 gene during aging and carcinogenesis, and provide further evidence for a potential link between aberrant methylation and diseases of aging.

Comorbidity Between Major Depression and Alcohol Use Disorder From Adolescence to Adulthood

Background—Limited information exists regarding the long-term development of comorbidity between Major Depressive Disorder (MDD) and Alcohol Use Disorder (AUD; abuse/dependence). Using a representative prospective study, we examine multiple aspects pertaining to MDD+AUD comorbidity, with a focus on the relation between disorders across periods (adolescence, early adulthood, adulthood) and cumulative impairments by age 30. Method—816 participants were diagnostically interviewed at ages 16, 17, 24, and 30. Results—Rates of comorbid MDD+AUD were low in adolescence (2%), but increased in early adulthood (10%) and adulthood (7%). Rates of cumulative comorbidity were elevated (21%). Most individuals with a history of MDD or AUD had the other disorder, except for women with MDD. Prospectively, adolescent AUD predicted early adult MDD, while early adult MDD predicted adult AUD. Compared to pure disorders, MDD+AUD was associated with higher risk of alcohol dependence, suicide attempt, lower global functioning, and life dissatisfaction. Conclusions—Lifetime rates of comorbid MDD+AUD were considerably higher than in crosssectional studies. Comorbidity was partly explained by bidirectional and developmentally-specific associations and predicted selected rather than generalized impairments. Clinically, our findings emphasize the need to always carefully assess comorbidity in patients with MDD or AUD, taking into account concurrency and developmental timing.

Trends in diabetes incidence from 1992 to 2015 and projections for 2024: A Portuguese General Practitioner’s Network study

Background: Diabetes is known as a major cause of morbidity and mortality worldwide. Portugal is known as the European country with the highest prevalence of this disease. While diabetes prevalence data is updated annually in Portugal, the General Practitioner’s (GP) Sentinel Network represents the only data source on diabetes incidence. This study describes the trends in Diabetes incidence, between 1992 and 2015, and estimate projections for the future incidence rates in Portugal until 2024. Methods: An ecological time-series study was conducted using data from GP Sentinel Network between 1992 and 2015. Family doctors reported all new cases of Diabetes in their patients’ lists. Annual trends were estimated through Poisson regression models as well as the future incidence rates (until 2024), sex and age group stratified. Incidence rate projections were adjusted to the distribution of the resident Portuguese population given Statistics Portugal projections. Results: The average increase in Diabetes incidence rate was in total 4.29% (CI95% 3.80–4.80) per year under study. Until 1998–2000, the annual incidence rate was higher in women, and from 1998–2000 to 2013–2015 turn out to be higher in men. The incidence rate projected for 2022–2024 was 972.77/105 inhabitants in total, and 846.74/105 and 1114.42/105, respectively, in women and men. Conclusions: This is the first study in Portugal to estimate diabetes incidence rate projections. The disturbing reported projections seem realistic if things continue as in the past. Actually, effective public health policies will need to be undertaken to minimize this alarming future scenario.

Comorbidity Between Major Depression and Alcohol Use Disorder From Adolescence to Adulthood

Background—Limited information exists regarding the long-term development of comorbidity between Major Depressive Disorder (MDD) and Alcohol Use Disorder (AUD; abuse/dependence). Using a representative prospective study, we examine multiple aspects pertaining to MDD+AUD comorbidity, with a focus on the relation between disorders across periods (adolescence, early adulthood, adulthood) and cumulative impairments by age 30. Method—816 participants were diagnostically interviewed at ages 16, 17, 24, and 30. Results—Rates of comorbid MDD+AUD were low in adolescence (2%), but increased in early adulthood (10%) and adulthood (7%). Rates of cumulative comorbidity were elevated (21%). Most individuals with a history of MDD or AUD had the other disorder, except for women with MDD. Prospectively, adolescent AUD predicted early adult MDD, while early adult MDD predicted adult AUD. Compared to pure disorders, MDD+AUD was associated with higher risk of alcohol dependence, suicide attempt, lower global functioning, and life dissatisfaction. Conclusions—Lifetime rates of comorbid MDD+AUD were considerably higher than in crosssectional studies. Comorbidity was partly explained by bidirectional and developmentally-specific associations and predicted selected rather than generalized impairments. Clinically, our findings emphasize the need to always carefully assess comorbidity in patients with MDD or AUD, taking into account concurrency and developmental timing.

Is mortality from heart failure increasing in Australia? An analysis of official data on mortality for 1997-2003

Objective To assess whether trends in mortality from heart failure(HF) in Australia are due to a change in awareness of the condition or real changes in its epidemiology. Methods We carried out a retrospective analysis of official data on national mortality data between 1997 and 2003. A death was attributed to HF if the death certificate mentioned HF as either the underlying cause of death (UCD) or among the contributory factors. Findings From a total of 907 242 deaths, heart failure was coded as the UCD for 29 341 (3.2%) and was mentioned anywhere on the death certificate in 135 268 (14.9%). Between 1997 and 2003, there were decreases in the absolute numbers of deaths and in the age-specific and age-standardized mortality rates for HF either as UCD or mentioned anywhere for both sexes. HF was mentioned for 24.6% and 17.8% of deaths attributed to ischaemic heart disease and circulatory disease, respectively, and these proportions remained unchanged over the period of study. In addition, HF as UCD accounted for 8.3% of deaths attributed to circulatory disease and this did not change materially from 1997 to 2003. Conclusion The decline in mortality from HF measured as either number of deaths or rate probably reflects a real change in the epidemiology of HF. Population-based studies are required to determine accurately the contributions of changes in incidence, survival and demographic factors to the evolving epidemiology of HF.

Estimating cause-specfic mortality from community- and facility-based data sources in the United Republic of Tanzania: options and implications for mortality burden estimates

Objective To compare mortality burden estimates based on direct measurement of levels and causes in communities with indirect estimates based on combining health facility cause-specific mortality structures with community measurement of mortality levels. Methods. Data from sentinel vital registration (SVR) with verbal autopsy (VA) were used to determine the cause-specific mortality burden at the community level in two areas of the United Republic of Tanzania. Proportional cause-specific mortality structures from health facilities were applied to counts of deaths obtained by SVR to produce modelled estimates. The burden was expressed in years of life lost. Findings. A total of 2884 deaths were recorded from health facilities and 2167 recorded from SVR/VAs. In the perinatal and neonatal age group cause-specific mortality rates were dominated by perinatal conditions and stillbirths in both the community and the facility data. The modelled estimates for chronic causes were very similar to those from SVR/VA. Acute febrile illnesses were coded more specifically in the facility data than in the VA. Injuries were more prevalent in the SVR/VA data than in that from the facilities. Conclusion. In this setting, improved International classification of diseases and health related problems, tenth revision (ICD-10) coding practices and applying facility-based cause structures to counts of deaths from communities, derived from SVR, appears to produce reasonable estimates of the cause-specific mortality burden in those aged 5 years and older determined directly from VA. For the perinatal and neonatal age group, VA appears to be required. Use of this approach in a nationally representative sample of facilities may produce reliable national estimates of the cause-specific mortality burden for leading causes of death in adults.