| 1. |
- Horikoshi, Momoko, et al.
(author)
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New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:1
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Journal article (peer-reviewed)abstract
- Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
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| 2. |
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| 3. |
- Felix, Janine F, et al.
(author)
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Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.
- 2016
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In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:2, s. 389-403
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Journal article (peer-reviewed)abstract
- A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value < 5 × 10(-8)) in the joint discovery and replication analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity. We identified three novel loci: rs13253111 near ELP3, rs8092503 near RAB27B and rs13387838 near ADAM23. Per additional risk allele, body mass index increased 0.04 Standard Deviation Score (SDS) [Standard Error (SE) 0.007], 0.05 SDS (SE 0.008) and 0.14 SDS (SE 0.025), for rs13253111, rs8092503 and rs13387838, respectively. A genetic risk score combining all 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P-value = 3.12 × 10(-10)) increase in childhood body mass index in a population of 1955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci. These loci likely represent age-related differences in strength of the associations with body mass index.
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| 4. |
- Semb, Gunvor, et al.
(author)
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A Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 1. Planning and management.
- 2017
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In: Journal of Plastic Surgery and Hand Surgery. - : Taylor & Francis. - 2000-656X .- 2000-6764. ; 51:1, s. 2-13
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Journal article (peer-reviewed)abstract
- BACKGROUND AND AIMS: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project.METHOD: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3-4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3-4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3-4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes.RESULTS: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years.CONCLUSION: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series.TRIAL REGISTRATION: ISRCTN29932826.
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| 5. |
- van der Valk, Ralf J P, et al.
(author)
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.
- 2015
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In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:4, s. 1155-68
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Journal article (peer-reviewed)abstract
- Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
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| 6. |
- Bentham, James, et al.
(author)
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A century of trends in adult human height
- 2016
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In: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
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Journal article (peer-reviewed)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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| 7. |
- Berthelsen, Anne Kiil, et al.
(author)
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What's new in target volume definition for radiologists in ICRU Report 71? How can the ICRU volume definitions be integrated in clinical practice?
- 2007
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In: Cancer Imaging. - : E-MED LTD. - 1470-7330. ; 7:1, s. 104-104
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Journal article (peer-reviewed)abstract
- The optimal definition of the size, shape and location of gross tumour volume is one of the most important steps in the planning of radiation therapy, and necessitates a proper understanding of the procedure from both the oncologic radiologist and the radiation oncologist. This overview reports on the different terms and concepts that have been recommended in the ICRU Reports for this purpose; the latest Report 71 focuses on both previously given recommendations, and especially on electron beam therapy. This paper also highlights some of the problems that are encountered in the use of the International Commission on Radiation Units and Measurements (ICRU) recommendations in clinical practice, and at the interface between the radiation oncologist and the diagnostic oncologist.
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| 8. |
- Bülow, Margareta, et al.
(author)
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Ätstudie med alder respondenter. Acceptants och preferens av konstistensanpassade produkter.
- 2007
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Reports (other academic/artistic)abstract
- SUMMARY In many countries, the proportion of elderly people is growing faster than any other age group. Today, people aged 65 years and over represents 17% of the Swedish population. With aging comes increasing prevalence of diminished taste and smell abilities and impaired function of chewing and swallowing. Many elderly, 30-35% suffers from chewing and swallowing disorders, i.e. dysphagia. Dysphagia has further been reported to affect eating habits, since certain foods can be too difficult to eat. “Sensory design and optimisation of consistency to promote health and comfort in elderly people” is a VINNOVA funded research project. The objective of the project is to gain knowledge on and study how and with which ingredients it is possible to develop innovative and healthy food products with sensory and consistency qualities that are in line with elderly consumers´ need of health and comfort. In one work package, elderly people (living in ordinary home; OH and in special housing; SH) evaluated texture modified meat and carrot products developed within the project. Their health status, chewing and swallowing functions were also studied. Some of the participants were further interviewed about attitudes to food and meals. About 12% in the studied population perceived difficulties in swallowing, most frequently reported in SH. Only 20% of those with impaired function had however been examined. Thereby, the risk of diseases and malnutrition may increase in those people, since texture modified diet has not been offered. The meat- and carrot products in this study were chewed and swallowed with ease. Overall, subjects in SH perceived the meat products easier to chew and swallow, and the carrot products easier to chew in comparison with OH. Possible factors for these differences might be related to health status. The prevalence of impaired swallowing and/or chewing function and prescribed oral drugs were higher in SH. A reduced appetite and prevalence of low BMI were more common in SH compared to OH. For an increasing number of elderly people with diseases related to dysphagia and/or malnutrition development of texture modified food is needed. Men in ordinary home reported mostly changes in attitudes to food and meals, comparing life as working with life as retired. Spending more time at home as retired, resulted in an increased interest in cooking for many of the men. For the elderly living in special housing, the appetite and willingness to try new meals and food products have decreased, comparing life as working with life as retired. Depending on the way of living, the meal times had been more regular and meals were often eaten with others.
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| 9. |
- Datta, Timir, et al.
(author)
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Integration of CMOS Chips into LOCs for Cell-Based Sensing
- 2014
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In: Proceedings of Biosensors 2014, Australia.
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Conference paper (peer-reviewed)abstract
- Incorporating complementary metal oxide semiconductor (CMOS) chips that can perform signal processing, control, information readout, and direct sensing into microfluidic systems adds powerful capabilities to lab on a chip (LOC) devices. For example, on-chip sensors allow system miniaturization, amplifiers placed directly under the sensors provide high signal to noise ratios (SNRs), and signal processing circuitry reduces the amount of data that must be communicated off-chip. Packaging such chips to expose the sensors on the surface to a fluid environment while protecting the input/output region at the periphery has been challenging, however. We present a new packaging method based on forming an epoxy handle wafer around the chip, photolithographic patterning of metal and polymer films for interconnection and passivation, and bonding to PDMS microfluidics. Such packaged chips last for months in the incubator and can be sterilized and re-used. We will show two examples of cell-based sensing with these systems using chips produced in a commercially-available CMOS technology: monitoring the cytotoxicity of nanomaterials through capacitance changes and recording action potentials from electrogenic cells. Adherent cells normally spread out on surfaces, while stressed cells contract and apoptosis leads to detachment. A chip was produced consisting of an array of fully differential capacitance sensors and readout circuitry. Cells (kidney, Cercopithecus aethiops) were cultured on the chip surface to confluence and then exposed to cytotoxic TiO2 nanowires. Cell viability was evaluated with both the chip and a commercial cytotoxicity kit. Preliminary results indicate that viability can be monitored by capacitance measurements. In the second example, a cluster of cardiomyocytes was cultured on the surface of a different chip having an array of electrodes connected to on-chip amplifiers. Electrical recordings showed strong action potentials from the cluster, corresponding in time with the beating of the clump. The signal amplitude decreased with distance to the electrodes, as expected
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