Bleeker, Jeannette C; Kok, Irene L; Ferdinandusse, Sacha; van der Pol, W Ludo; Cuppen, Inge; Bosch, Annet M; Langeveld, Mirjam; Derks, Terry G J; Williams, Monique; de Vries, Maaike; et al. (2019-02-13)
Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiation of therapy, or because of identification of individuals with biochemical abnormalities who will never develop symptoms, is unclear. A 10 year longitudinal national cohort study of genetically confirmed VLCADD patients born before and after introduction of NBS. Main outcome measures were clinical outcome parameters, ACADVL gene analysis, VLCAD activity and overall capacity of long-chain fatty acid oxidation (LC-FAO flux) in lymphocytes and cultured skin fibroblasts. Median VLCAD activity in lymphocytes of 54 patients, 21 diagnosed pre-NBS and 33 by NBS was respectively 5.4% (95% CI 4.0-8.3%) and 12.6% (95% CI 10.7-17.7%; p<.001) of the reference mean. The median LC-FAO flux was 33.2% (95% CI 22.8-48.3%) and 41% (95% CI 40.8-68%; p<.05) of the control mean, respectively. Clinical characteristics in 23 pre-NBS and 37 NBS patients revealed hypoglycemic events in 12 versus 2 patients, cardiomyopathy in 5 versus 4 patients and myopathy in 14 versus 3 patients. All patients with LC-FAO flux <10% developed symptoms. Of the patients with LC-FAO flux >10% 7 out of 12 diagnosed pre-NBS versus none by NBS experienced hypoglycemic events. NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. The effect of NBS on prevalence and prevention of myopathy-related complications remains unclear.
Benet, Marta; Albang, Richard; Pinart, Mariona; Hohmann, Cynthia; Tischer, Christina G; Annesi-Maesano, Isabella; Baïz, Nour; Bindslev-Jensen, Carsten; Lødrup Carlsen, Karin C; Carlsen, Kai-Hakon; et al. (2019-02-01)
The numbers of international collaborations among birth cohort studies designed to better understand asthma and allergies have increased in the last several years. However, differences in definitions and methods preclude direct pooling of original data on individual participants. As part of the Mechanisms of the Development of Allergy (MeDALL) Project, we harmonized data from 14 birth cohort studies (each with 3-20 follow-up periods) carried out in 9 European countries during 1990-1998 or 2003-2009. The harmonization process followed 6 steps: 1) organization of the harmonization panel; 2) identification of variables relevant to MeDALL objectives (candidate variables); 3) proposal of a definition for each candidate variable (reference definition); 4) assessment of the compatibility of each cohort variable with its reference definition (inferential equivalence) and classification of this inferential equivalence as complete, partial, or impossible; 5) convocation of a workshop to agree on the reference definitions and classifications of inferential equivalence; and 6) preparation and delivery of data through a knowledge management portal. We agreed on 137 reference definitions. The inferential equivalence of 3,551 cohort variables to their corresponding reference definitions was classified as complete, partial, and impossible for 70%, 15%, and 15% of the variables, respectively. A harmonized database was delivered to MeDALL investigators. In asthma and allergy birth cohorts, the harmonization of data for pooled analyses is feasible, and high inferential comparability may be achieved. The MeDALL harmonization approach can be used in other collaborative projects.
Scheffers, Floor R; Boer, Jolanda M A; Verschuren, W M Monique; Verheus, Martijn; van der Schouw, Yvonne T; Sluijs, Ivonne; Smit, Henriëtte A; Wijga, Alet H (2019-02-01)
Dietary guidelines for pure fruit juice consumption differ between countries, regarding the question whether pure fruit juice is an acceptable alternative for fruit. Currently, little is known about pure fruit juice consumption and the risk of CVD. In this prospective cohort study, we studied the association of pure fruit juice and fruit consumption with the incidence of fatal and non-fatal CVD, CHD and stroke and investigated the differences in association with pure fruit juice consumption between low and high fruit consumers. A validated FFQ was used to estimate dietary intake of 34 560 participants (26·0 % men and 74·0 % women) aged 20-69 years from the European Prospective Investigation into Cancer and Nutrition-Netherlands study. Adjusted hazard ratios (HR) were estimated using Cox regression after average follow-up of 14·6 years. Compared with no consumption, pure fruit juice consumption up to 7 glasses/week - but not consumption of ≥8 glasses - was significantly associated with reduced risk of CVD and CHD, with HR from 0·83 (95 % CI 0·73, 0·95) to 0·88 (95 % CI 0·80, 0·97). Consumption of 1-4 and 4-8 glasses/week was significantly associated with lower risk of stroke with HR of 0·80 (95 % CI 0·64, 0·99) and 0·76 (95 % CI 0·61, 0·94), respectively. Associations did not differ considerably between low and high fruit consumers. The highest three quintiles of fruit consumption (≥121 g/d) were significantly associated with lower incidence of CVD, with HR of 0·87 (95 % CI 0·78, 0·97) and 0·88 (95 % CI 0·80, 0·98). In conclusion, although we observed favourable associations of moderate pure fruit juice consumption with CVD, for now consumption of whole fruit should be preferred because the evidence of the health benefits of fruit is more conclusive.
Szekeres, Sándor; Docters van Leeuwen, Arieke; Tóth, Evelin; Majoros, Gábor; Sprong, Hein; Földvári, Gábor (2018-09-19)
Small- and medium-sized mammals play an important role in the life cycle of tick-borne pathogens in urban habitats. Our aim was to apply the general protocol, DAMA (documentation-assessment-monitoring-action), which is an integrated proposal to build a proactive capacity to understand, anticipate, and respond to the outcomes of accelerating environmental change. Here we tested whether road-killed carcasses in urban areas are useful sources of tissue and parasite samples to investigate these species' contribution to the epidemiology of vector-borne diseases. We collected 29 road-killed and 6 carcasses with different causes of mortality (23 northern white-breasted hedgehogs and 12 from seven other mammal species) mainly from Budapest, Hungary. We used quantitative and conventional PCRs to determine pathogens in 90 collected tissues (52 from hedgehogs; 38 from other species) and 417 ticks that were only found on hedgehogs. Tissue samples revealed a wide range of bacteria including human zoonotic pathogens identified as Anaplasma phagocytophilum ecotype I, Borrelia afzelii, B. spielmanii, Borrelia miyamotoi, Rickettsia helvetica, and Bartonella species. Among the 23 collected hedgehog carcasses, 17 (74%) were infected with A. phagocytophilum, 6 (26%) with Borrelia burgdorferi s.l., 12 (52%) with R. helvetica, and 15 (65%) with Rickettsia sp. Furthermore, we report the first detection of Rickettsia sp. infection in European moles and lesser weasel and R. helvetica in stone marten. Through sequencing B. afzelii, R. helvetica, R. monacensis and A. phagocytophilum ecotype I were identified in the ticks removed from the carcasses. We showed that road-killed urban mammal species are exposed to multiple tick-borne pathogens but further studies have to clarify whether they, in fact, also have a role in their maintenance and spread. Our study also demonstrates that roadkill can be used in the risk assessment of potential human infection and in the implementation of the DAMA protocol.
Hoondert, Renske; Oldenkamp, Rik; de Zwart, Dick; van de Meent, Dik; Posthuma, Leo (2019-09-25)
Ecological risk assessments are hampered by limited availability of ecotoxicity data. The present study aimed to explore the possibility of deriving SSD (species sensitivity distribution) parameters for non-tested compounds, based on simple physicochemical characteristics, known SSDs for data-rich compounds and a QSAR-type approach. The median toxicity of a data-poor chemical for species assemblages significantly varies with values of the physicochemical descriptors, especially when based on high quality SSD data (either from acute EC50 s or chronic NOECs). Beyond exploratory uses, we discussed how the precision of QSAR-based SSDs can be improved to construct models that accurately predict the SSD-parameters of data poor chemicals. The current models show that the concept of QSAR-based SSDs supports screening-level evaluations of the potential ecotoxicity of compounds for which data are lacking. This article is protected by copyright. All rights reserved.
Obesity is a heterogeneous phenotype and risk associations to non-communicable diseases such as cardiovascular disease and type 2 diabetes are influenced by several factors. The paternal metabolic status at the time of conception influences offspring susceptibility to developing obesity and adiposity-associated cardiometabolic disease. Cholestatic liver diseases are characterized by raised circulating serum bile acid levels and dyslipidemia, and are commonly treated with ursodeoxycholic acid (UDCA). We hypothesized that paternal cholestasis alters offspring susceptibility to developing obesity and adiposity-associated cardiometabolic disease and that this may be modified by paternal UDCA treatment.
Jager, Emmalie A; Kuijpers, Myrthe M; Bosch, Annet M; Mulder, Margot F; Gozalbo, Estela R; Visser, Gepke; de Vries, Maaike; Williams, Monique; Waterham, Hans R; van Spronsen, Francjan J; et al. (2019-09-01)
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