| 31. |
- Wang, T, et al.
(författare)
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
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Tidskriftsartikel (refereegranskat)abstract
- Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
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| 32. |
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| 33. |
- Allen, David B, et al.
(författare)
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GH Safety Workshop Position Paper: a critical appraisal of recombinant human growth hormone therapy in children and adults.
- 2016
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Ingår i: European Journal of Endocrinology. - 1479-683X. ; 174:2, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- Recombinant human growth hormone (rhGH) has been in use for 30 years, and over that time its safety and efficacy in children and adults has been subject to considerable scrutiny. In 2001, a statement from the GH Research Society (GRS) concluded that 'for approved indications, GH is safe'; however, the statement highlighted a number of areas for on-going surveillance of long-term safety including; cancer risk, impact on glucose homeostasis and use of high dose pharmacological rhGH treatment. Over the intervening years, there have been a number of publications addressing the safety of rhGH with regard to mortality, cancer and cardiovascular risk and the need for longterm surveillance of the increasing number of adults who were treated with rhGH in childhood. Against this backdrop of interest in safety, the European Society of Paediatric Endocrinology (ESPE), the GRS and the Pediatric Endocrine Society (PES) convened a meeting to reappraise the safety of rhGH. The ouput of the meeting is a concise position statement.
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| 34. |
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| 35. |
- Artaxo, Paulo, et al.
(författare)
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Tropical and Boreal Forest – Atmosphere Interactions : A Review
- 2022
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Ingår i: Tellus. Series B, Chemical and physical meteorology. - : Stockholm University Press. - 0280-6509 .- 1600-0889. ; 74:1, s. 24-163
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Forskningsöversikt (refereegranskat)abstract
- This review presents how the boreal and the tropical forests affect the atmosphere, its chemical composition, its function, and further how that affects the climate and, in return, the ecosystems through feedback processes. Observations from key tower sites standing out due to their long-term comprehensive observations: The Amazon Tall Tower Observatory in Central Amazonia, the Zotino Tall Tower Observatory in Siberia, and the Station to Measure Ecosystem-Atmosphere Relations at Hyytiäla in Finland. The review is complemented by short-term observations from networks and large experiments.The review discusses atmospheric chemistry observations, aerosol formation and processing, physiochemical aerosol, and cloud condensation nuclei properties and finds surprising similarities and important differences in the two ecosystems. The aerosol concentrations and chemistry are similar, particularly concerning the main chemical components, both dominated by an organic fraction, while the boreal ecosystem has generally higher concentrations of inorganics, due to higher influence of long-range transported air pollution. The emissions of biogenic volatile organic compounds are dominated by isoprene and monoterpene in the tropical and boreal regions, respectively, being the main precursors of the organic aerosol fraction.Observations and modeling studies show that climate change and deforestation affect the ecosystems such that the carbon and hydrological cycles in Amazonia are changing to carbon neutrality and affect precipitation downwind. In Africa, the tropical forests are so far maintaining their carbon sink.It is urgent to better understand the interaction between these major ecosystems, the atmosphere, and climate, which calls for more observation sites, providing long-term data on water, carbon, and other biogeochemical cycles. This is essential in finding a sustainable balance between forest preservation and reforestation versus a potential increase in food production and biofuels, which are critical in maintaining ecosystem services and global climate stability. Reducing global warming and deforestation is vital for tropical forests.
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| 36. |
- Backeljauw, P, et al.
(författare)
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Insulin-like growth factor-I in growth and metabolism
- 2010
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Ingår i: Journal of pediatric endocrinology & metabolism : JPEM. - : Walter de Gruyter GmbH. - 0334-018X .- 2191-0251. ; 23:1-2, s. 3-16
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Tidskriftsartikel (refereegranskat)
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| 37. |
- Bidarian-Moniri, Armin, et al.
(författare)
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Autoinflation compared to ventilation tubes for treating chronic otitis media with effusion
- 2022
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Ingår i: Acta Oto-Laryngologica. - : Informa UK Limited. - 0001-6489 .- 1651-2251. ; 142:6, s. 476-483
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Tidskriftsartikel (refereegranskat)abstract
- Background Otitis media with effusion (OME) is the most common cause of acquired hearing loss and surgery in children. Autoinflation has been suggested as an alternative treatment for OME. Objectives The aim of the study was to compare treatment outcome with a new autoinflation device versus ventilation tube (VT) surgery or watchful waiting in children with chronic bilateral OME from the waiting list for surgery. Methods Forty-five children performed autoinflation during four weeks, forty-five were submitted to VT surgery, and twenty-three were enrolled as control group. Tympanometry was performed in the autoinflation and the control groups and audiometry in all groups. Results An equivalent hearing improvement was achieved in the autoinflation and the VT group at one (p=.19), six (p=.23) and twelve (p=.31) months with no significant alteration in the control group. In the autoinflation group 80% of the children avoided surgery and no complications were reported compared to 34% complication rate in the VT group. Conclusion Autoinflation achieved an equivalent improvement in hearing thresholds compared to VT surgery for treating OME. Significance Autoinflation may be a reasonable first-line treatment for children with OME to potentially avoid surgery. Article Summary: The Moniri autoinflation device is well tolerated and an effective alternative to ventilation tubes for treatment of chronic otitis media with effusion in young children. What's known on this subject: Previous studies have shown that autoinflation may reduce effusion in children with otitis media with effusion; however limited compliance to treatment, lack of adequate hearing evaluation, short follow-up time and also lack of comparative data to ventilation tube surgery have been reported. What this study adds: A new device was developed to allow for the performance of autoinflation in young children. The effect is compared to ventilation tube surgery and equivalent improvement in hearing is achieved in the short and the long-term follow-up.
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