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Vitamin D status of Icelandic children and youngsters: Longitudinal study
No full textTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadTILGANGUR
D-vítamín er mikilvægt fyrir vöxt og líkamlegan þroska barna,
ekki eingöngu til að bæta beinheilsu heldur einnig vegna áhrifa
þess á aðra starfsemi líkamans. Embætti landlæknis ráðleggur að
D-vítamínþéttni í blóði sé minnst 50 nmól/l. Tilgangur rannsóknarinnar var að kanna hve stór hluti íslenskra barna og ungmenna
næðu ráðlagðri D-vítamínþéttni við 7, 9, 15 og 17 ára aldur, ásamt
því að kanna breytingar á D-vítamínþéttni yfir tíma og tengsl við
kalkvaka (parathyroid hormone status (S-PTH)).
EFNIVIÐUR OG AÐFERÐIR
Rannsóknarhópurinn samanstóð af nemendum 6 grunnskóla í
Reykjavík, fæddum árið 1999. Blóðprufur voru teknar fjórum sinnum árin 2006, 2008, 2015 og 2017. Að hluta til var um sömu börn að
ræða en fleiri bættust í hópinn árið 2015 og 2017.
NIÐURSTÖÐUR
Í öllum mælingum voru um eða yfir 60% barna með lægri þéttni
D-vítamíns í blóði en Embætti landlæknis ráðleggur. Einungis 13%
náðu viðmiðum um þéttni yfir 50 nmól/l í endurteknum mælingum
og 38,9% einstaklinganna voru með lægri en ráðlagða þéttni í
minnst tveimur blóðprufum. Ekki var marktækur munur milli kynja
nema hvað 17 ára stelpur höfðu marktækt hærra D-vítamínþéttni
en strákar (p=0,04). S-PTH hafði neikvæða fylgni við D-vítamín
við 7, 15 og 17 ára aldur en náði ekki marktækni við 9 ára aldur.
Meðaltalsgildi S-PTH var lægst við 7 ára aldur en hækkaði síðan
með aldri.
ÁLYKTUN
Þéttni D-vítamíns í blóði hjá meirihluta barna og ungmenna er
undir ráðlögðum gildum Embættis landlæknis. Hjá stórum hluta er
þéttnin endurtekið of lág. Ljóst er að auka þarf D-vítamíninntöku
hjá þessum hópi ef markmið um æskilega þéttni á að nást. Áhrif
D-vítamínskorts á lýðheilsu eru þó ekki að fullu þekkt.Objective: Vitamin D plays a key role for children‘s growth and physical
developement, not only by promoting bone health but also by its influence on extraskeletal systems. The Icelandic Directorate of Health
recommends a vitamin D concentration in blood of at least 50 nmol/l.
The object of this study was to evaluate the vitamin D status of Icelandic
children and youngsters at four different ages, and furthermore to
evaluate changes in vitamin D concentrations over time and connection
to parathyroid hormone status (S-PTH).
Material and methods: The subjects were students from six elementary schools in Reykjavík, born in 1999. Blood tests were taken four
times, in 2006, 2008, 2015 og 2017. Some of the subjects took part in all
four tests, but more students joined in 2015 and 2017.
Results: In all the tests, around 60% of the subjects had lower vitamin
D concentrations than recommended by The Icelandic Directorate of
Health. Only 13% met the recommended criteria of a concentration
over 50 nmol/l in repeated tests and 38.9% of the subjects had lower
concentrations than recommended in at least two tests. There was no
significant difference between sexes except that 17 year old girls had
significantly higher Vitamin D concentrations than boys (p=0.04). S-PTH
was negatively correlated to vitamin D concentrations at ages 7, 15 and
17 but there was not a significant correlation at age 9. S-PTH values
were lowest at age 7 and then increased with age.
Conclusion: The majority of Icelandic children and youngsters have
vitamin D concentrations under the values recommended by The Icelandic Directorate of Health. In many cases, the concentrations are
repeatedly too low. It is clear that there is a need for increased vitamin D
intake within this group if the goal regarding recommended concentrations is to be achieved. However, the influence of vitamin D deficiency
on public health is not fully known.Vísindasjóður Félags íslenskra heimilislækna, Rannsóknarsjóður Íslands (Rannís) og Rannsóknarsjóður Háskóla Ísland
A systematic review of the psychometric properties of Beck Youth Inventory in Iceland
No full textTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadMarkmið þessarar greinar var að kanna próffræðilega stöðu Sjálfsmatskvarða Becks fyrir börn
og unglinga (BYI) í íslenskri útgáfu með aðferð kerfisbundins yfirlits (e. systematic review).
Sjálfsmatskvarðar Becks samanstanda af fimm undirkvörðum með 20 atriðum hver, sem meta
sjálfsmynd, kvíða, þunglyndi, reiði og hegðunarvanda hjá ungmennum á aldrinum 7-18 ára. Leitað
var kerfisbundið að öllum rannsóknum sem lögðu kvarðana fyrir íslenskt úrtak í gagnagrunnum
Google Scholar, PubMed og Skemmunnar og þær teknar saman. Alls fundust níu greinar og handrit
sem fjölluðu um próffræðilega eiginleika kvarðanna. Niðurstöður gáfu til kynna gott innra samræmi
á bilinu 0,71-0,96. Aðgreiningar- og samleitniréttmæti var óviðunandi þar sem meðal annars var há
innbyrðis fylgni á milli undirkvarða BYI og fylgni við aðra lista sem mátu ólíkar hugsmíðar. Einnig
bentu niðurstöður þáttagreiningar til þess að listinn aðgreindi ekki með fullnægjandi hætti á milli
hugsmíðanna kvíða, þunglyndis og reiði, en niðurstöður íslenskra rannsókna hafa bent til þess
að þessar þrjár hugsmíðir myndi saman einn þátt. Þessar niðurstöður eru í samræmi við erlendar
rannsóknir, en helsti styrkleiki listans er mikið innra samræmi. Hins vegar er aðgreiningar- og
samleitniréttmæti listans óviðunandi. Einnig er ekki vitað hvaða notagildi kvarðarnir hafa í klínísku
úrtaki með tilliti til viðmiðsréttmætis og hvort kvarðarnir henti til að meta árangur meðferðar eða
breytingar á einkennum yfir tíma. Próffræðilegir eiginleikar sjálfsmyndar- og hegðunarvandakvarða
BYI meðal íslenskra rannsókna eru að mestu viðunandi til góðir. Hvað varðar kvíða-, þunglyndis- og
reiðikvarða BYI getum við ekki mælt með notkun þeirra, hvorki í almennum né klínískum tilgangi
en hins vegar mælum við með endurskoðun þessara þriggja undirkvarða.The goal of this study was to perform a systematic review
to estimate the psychometric properties of the Icelandic
translation of the Beck Youth Inventory (BYI) in Iceland.
The BYI consists of five independent subscales each
containing 20 statements measuring self-concept, anxiety,
depression, anger and disruptive behaviour in youths
aged 7-18 years old. Online databases were searched for
researches employing the Icelandic version of the BYI.
The databases used to search included Google Scholar,
PubMed and Skemman. The search concluded nine
studies, whose results included psychometric properties
of the BYI. Results showed good internal consistency ranging from 0.71-0.96. Convergent validity showed
medium to high correlation with scales measuring related
constructs. However, divergent validity could not
be established as the BYI subscales were found to be
highly correlated internally as well as with other scales
measuring unrelated constructs. Results from factor analyses
indicated the BYI does not discriminate adequately
between anxiety, depression and anger, and it seems from
Icelandic research that these constructs form one latent
factor. These results are consistent with international
research, as internal reliability and convergent validity
have been shown to be the strengths of the BYI. Nevertheless,
results on divergent validity are unsatisfactory.
Clinical applications of the BYI are as of yet doubtful
with regards to criterion validity and suitability to measure
progress in treatment or changes in symptoms over time.
Self-concept and disruptive behaviour showed adequate
to good psychometric properties. Concerning the scales
on anxiety, depression and anger, we cannot recommend
their general nor clinical usage, but suggest revision of
these three subscales
Association of Genomic Domains in BRCA1 and BRCA2 With Prostate Cancer Risk and Aggressiveness
No full textTo access publisher's full text version of this article click on the hyperlink belowPathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.National Health and Medical Research Council of Australia
National Breast Cancer Foundation
Cancer Australia
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Cancer Institute (NCI)
Cancer Research UK
European Community (EC)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Post-Cancer GWAS initiative - the GAME-ON initiative
United States Department of Defense
Canadian Institutes of Health Research (CIHR)
Ministry of Economic Development, Innovation and Export Trade
Susan G. Komen Breast Cancer Foundation
Breast Cancer Research Foundation
Ovarian Cancer Research Fund
Genome Canada
Canadian Institutes of Health Research (CIHR)
Ministry of Economy, Science and Innovation through Genome Quebec
Quebec Breast Cancer Foundation
Research Council of Lithuania
Cancer Association of South Africa
Spanish Ministry of Health - FEDER funds
Spanish Ministry of Economy and Competitiveness (MINECO)
Spanish Research Network on Rare diseases (CIBERER)
NCI of the NIH
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Cancer Institute (NCI)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Associazione Italiana per la Ricerca sul Cancro (AIRC)
Associazione Italiana per la Ricerca sul Cancro (AIRC)
European Union (EU)
European Social Fund (ESF)
Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework (NSRF) -Research Funding Program of the General Secretariat for Research Technology
German Cancer Research Center
National Institute for Health Research (NIHR)
University of Kansas Cancer Center
Kansas Bioscience Authority Eminent Scholar Program
Chancellors Distinguished Chair in Biomedical Sciences Professorship
Mutua Madrilena Foundation (FMMA)
Deutsche Krebshilfe
European Union (EU)
Free State of Saxony, Germany (LIFE -Leipzig Research Centre for Civilization Diseases)
Ligue nationale contre le cancer
Association " Le cancer du sein, parlons-en!" Award
Institut National du Cancer (INCA) France
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Fisher Center for Hereditary Cancer and Clinical Genomics Research
Swing Fore the Cure
Institute for the Promotion of Innovation by Science and Technology in Flanders (IWT)
Instituto de Salud Carlos III
Spanish Government
CIBERONC from ISCIII (Spain)
European Union (EU)
Helsinki University Hospital Research Fund
Academy of Finland
Finnish Cancer Society
Sigrid Juselius Foundation
KWF Kankerbestrijding
Netherlands Organization of Scientific Research grant
Pink Ribbon grants
BBMRI grant
Transcan grant JTC 2012 Cancer
Hungarian Research Grants
Asociacion Espanola Contra el Cancer (AECC)
Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economia y Competitividad)
European Union (EU)
Institut Catala de la Salut
Generalitat de Catalunya
Icelandic Association "Walking for Breast Cancer Research"
Landspitali University Hospital Research Fund
Canadian Institutes of Health Research (CIHR)
Ministry of Economic Development, Innovation and Export Trade grant
Ministero della Salute and "5 x 100000 Istituto Oncologico Veneto grant
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Cancer Institute (NCI)
Cancer Center Support Grant/Core Grant
NCI: the Intramural Research Program of the NCI, NIH
Westat, Inc, Rockville, MD
Russian Foundation for Basic Research (RFBR)
NRG Oncology
NRG SDMC grant
NRG Administrative Office
NRG Tissue Bank
NRG Statistical and Data Center
Associazione Italiana per la Ricerca sul Cancro (AIRC)
Tuscany Institute for Tumors (ITT) grant
Ministry of Science, Technology and Innovation, Ministry of Higher Education
Ralph and Marion Falk Medical Research Trust
Entertainment Industry Fund National Women's Cancer Research Alliance
American Cancer Society
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Center for Advancing Translational Sciences (NCATS)
Miguel Servet Progam
2019 EACTS/EACTA/EBCP guidelines on cardiopulmonary bypass in adult cardiac surgery.
No full textTo access publisher's full text version of this article click on the hyperlink belowEuropean Association for Cardio-Thoracic Surgery (EACTS)
European Association for Cardio-Thoracic Anaesthesiology (EACTA)
European Board of Cardiovascular Perfusion (EBCP
Transcriptome-wide Association Study of Breast Cancer Risk by Estrogen-Receptor Status
Get PDFTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadPrevious transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.Cancer Research UK
European Union's Horizon 2020 Research and Innovation Programme
European Union (EU)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Cancer UK
Genome Canada
Canadian Institutes of Health Research (CIHR)
Ministere de l'Economie, Science et Innovation du Quebec through Genome Quebec
Quebec Breast Cancer Foundation
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Post-Cancer GWAS initiative (GAME-ON initiative)
Department of Defence
Canadian Institutes of Health Research (CIHR)
Breast Cancer Research Foundation
Ovarian Cancer Research Fund
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Cancer Institute (NCI)
National Health and Medical Research Council of Australia
Cancer Council New South Wales
Victorian Health Promotion Foundation (Australia)
Victorian Breast Cancer Research Consortium
KWF Kankerbestrijding
Cancer Institute NSW
National Breast Cancer Foundation
Breast Cancer Research Trust, UK
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Cancer Institute (NCI)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute of Environmental Health Sciences (NIEHS)
ELAN-Fond of the University Hospital of Erlangen
Cancer Research UK
NHS
National Health and Medical Research Council of Australia
Cancer Council Western Australia
National Institute for Health Research (NIHR)
Guy's and St. Thomas' NHS Foundation
King's College London, United Kingdom
Oxford Biomedical Research Centre
Cancer Research UK
Instituto de Salud Carlos III
Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud
Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investigacion Biomedica Galicia Sur
Xerencia de Xestion Integrada de Vigo-SERGAS, Instituto de Salud Carlos III, Spain
Conselleria de Industria Programa Sectorial de Investigacion Aplicada, PEME I + D e I + D Suma del Plan Gallego de Investigacion, Desarrollo e Innovacion Tecnologica de la Conselleria de Industria de la Xunta de Galicia, Spain
Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain
Grant FEDER-Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain
Dietmar-Hopp Foundation
Helmholtz Association
Helmholtz Association
Consejo Nacional de Ciencia y Tecnologia (CONACyT)
Canadian Cancer Society
Canadian Institutes of Health Research (CIHR)
University of Crete
Fondation de France
Institut National du Cancer (INCA) France
Ligue nationale contre le cancer
French National Research Agency (ANR)
French National Research Agency (ANR)
Chief Physician Johan Boserup and Lise Boserup Fund
Danish Medical Research Council
Herlev and Gentofte Hospital
Instituto de Salud Carlos III
Asociacion Espanola Contra el Cancer
Fondo de Investigacion Sanitario
German Cancer Research Center (DKFZ), Heidelberg, Germany
Alexander von Humboldt Foundation
American Cancer Society
California Breast Cancer Act of 1993
California Breast Cancer Research Fund
California Department of Public Health
Lon V Smith Foundation
Against Breast Cancer Registered Charity
NCRN
E
Íslensk iðjuþjálfun í Japan
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,,Við höfum þurft að breyta okkar starfi" - starfsendurhæfing á Íslandi frá sjónarhóli starfsfólks starfsendurhæfingastöðva
Get PDFTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBakgrunnur: Það er áhyggjuefni hversu
algengt það er orðið að fólk á vinnualdri sé
frá vinnu sökum veikinda. Vinnan, sem er
eitt af meginviðfangsefnum lífsins, leggur
grunninn að samfélagslegri stöðu fólks og
er því stór þáttur í sjálfsmynd, sjálfsvirðingu
og vellíðan þess. Í vestrænum ríkjum
eru helstu ástæður veikindafjarveru stoðkerfisvandamál
og geðraskanir, en slæm
geðheilsa er víða ein stærsta áskorun
vinnumarkaðarins.
Tilgangur: Tilgangur rannsóknarinnar var
að fá innsýn í starfsendurhæfingu á Íslandi
frá sjónarhóli fagfólks sem starfar á
starfsendurhæfingarstöðvum. Skoðað var
hvort og með hvaða hætti þróun í málaflokknum
hefur haft áhrif á störf þeirra og
starfsumhverfi.
Aðferð: Notað var eigindlegt rannsóknarsnið
og gögnum safnað með samræðum í
rýnihópum og einstaklingsviðtölum. Þátttakendur
voru 18 talsins og höfðu flestir
víðtæka reynslu af viðfangsefni rannsóknarinnar.
Við greiningu gagna var
stuðst við vinnulag grundaðrar kenningar
og niðurstöðurnar settar fram í þemum
sem lýsa stöðu og þróun starfsendurhæfingar
í gegnum tíðina.
Niðurstöður: Aðstæður og þjónusta
starfsendurhæfingarstöðva höfðu breyst
töluvert í gegnum tíðina. Dregið hafði úr
sjálfræði stöðvanna og aðgengi notenda
að þjónustunni þrengst sem hafði komið
niður á rekstrarafkomu sumra þeirra. Stór
hópur notenda var ungt fólk með geðræna
erfiðleika sem hafði takmarkaða reynslu af
vinnumarkaði og litla menntun. Þessi hópur
þurfti lengri endurhæfingu og umfangsmeiri
stuðning en reglur gerðu almennt
ráð fyrir. Starfsfólk stöðvanna veitti heildstæða
og einstaklingsmiðaða þjónustu í
þeim tilgangi að auka möguleika notenda
til að lifa góðu lífi, óháð því hvort þeir
enduðu á vinnumarkaði eða ekki. Ýmsir
þættir, bæði einstaklingsbundnir og kerfislægir,
hindruðu árangur starfsendurhæfingar.
Ályktun: Starfsendurhæfing er í stöðugri
þróun í takt við stjórnsýslulegar breytingar
á málaflokknum. Trygginga- og framfærslukerfið
er veruleg hindrun í atvinnuþátttöku
fólks með skerta starfsgetu. Það er því
mikilvægt að þróa og bæta samstarf stofnana
og stjórnsýslukerfa sem koma að
starfsendurhæfingu til að ýta undir þátttöku
og endurkomu fólks í vinnu.Background: Work is an important part of
peoples’ self-esteem, self- respect and
wellbeing. Work participation is one of the
main subjects in peoples’ life and a foundation
for their social status. In recent decades
sickness absence of people at working
age has increased in many western
countries. The most common healthrelated
reasons are of musculoskeletal or
mental origin, but mental health problems
are today a major challenge in the labour
market.
Purpose: The purpose of this study was to
get an overview of the development and
situation of vocational rehabilitation in
Iceland from the perspective of professionals
working in the area and, furthermore,
to explore how changes in the field have
affected their professional role and work
environment.
Method: This was a qualitative study,
supported by a grounded theory approach.
Data was collected using focus groups and
individual interviews. Eighteen professionals
participated in the study, all working at
vocational rehabilitations centers
and with
a broad experience of the research
subject.
Inductive analyses was performed using
open and focused coding to create themes
and subthemes describing the participants’
experience of the subject.Results: The context and service of vocational
rehabilitation centers had changed
considerably over the years. The centers’
autonomy had decreased and the accessibility
of clients to their service narrowed,
which in some cases had detrimental effect
for both the clients and the rehabilitation
centers. A large group of clients was young
people with mental or musculoskeletal
health problems who often had little education
and limited experience of the labor
market. Those clients needed longer services
and more support than was generally
suggested by customary regulations. For
some of them vocational participation was
not attractive as they could be better off financially
receiving disability pension. The
professionals provided comprehensive client
centered service with the aim of
increasing
the clients’ possibility to live a
good life, without consideration of whether
they ended in the labor market or not. The
focus of the rehabilitation was mainly on
increasing the clients’ overall skills as
placements
in real work situations was
rather limited. Various factors, both personal
and institutional, prevented successful
vocational
rehabilitation in terms of return
to the labor market or educational participation. Conclusion: Vocational rehabilitation is
constantly developing in accordance
with administrative changes in the field.
The insurance and support system is a
significant barrier to employment of
people with reduced working capacity. It
is therefore important to develop and
improve co-operation between institutions
and administrative systems involved
in vocational rehabilitation to support
people’s participation and return to
work
Introducing the ReDO-TM programme and the ValMO-model in the Icelandic context
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Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground: Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently observed in individuals with KS, but the role of KMT2D in immune system function has not been identified.
Objective: We sought to understand the mechanisms driving KS-associated immune deficiency (hypogammaglobulinemia [low IgA], splenomegaly, and diminished immunization responses).
Methods: We performed a comprehensive evaluation of humoral immunity and secondary lymphoid tissues in an established KS (Kmt2d+/βGeo) mouse model and validated select findings in a patient with KS.
Results: Compared with wild-type littermates, Kmt2d+/βGeo mice demonstrated deficiencies in multiple B-cell lineages and reduced serum IgA and elevated IgM levels across multiple ages. The bone marrow, spleen, and intestine of Kmt2d+/βGeo mice contained diminished numbers of IgA-secreting cells, while elevated germinal center B cells were found in the mesenteric lymph node and Peyer patches. Kmt2d+/βGeo mice have decreased size and numbers of Peyer patches, a finding confirmed in human samples. We identified deficiency of Itgb7 RNA and protein expression, a gene encoding an adhesion protein that mediates intestinal homing, and we demonstrated KMT2D-dependent control of ITGB7 expression in a human cell line.
Conclusions: Kmt2d haploinsufficiency has broad deleterious effects on B-cell differentiation, specifically hampering gut lymphocyte homing and IgA+ plasma cell differentiation. Intestinal lymphoid defects caused by ITGB7 deficiency have not previously been recognized in KS, and these results provide new mechanistic insights into the pathogenesis of KS-associated immune deficiency.Center for Pediatric Genomics, Cincinnati Children's Research Foundation,
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA,
Louma G. Foundatio
Risk Factors for Hen's Egg Allergy in Europe: EuroPrevall Birth Cohort.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground: Hen's egg is one of the commonest causes of food allergy, but there are little data on its risk factors.
Objective: To assess the risk factors, particularly eczema, for hen's egg allergy in the EuroPrevall birth cohort.
Methods: In the pan-European EuroPrevall birth cohort, questionnaires were undertaken at 12 and 24 months or when parents reported symptoms. Children with suspected egg allergy were invited for skin prick testing, specific IgE assessment, and double-blind, placebo-controlled food challenge (DBPCFC) as indicated. Each egg allergy case (positive DBPCFC or egg-induced anaphylaxis) was allocated up to 2 age- and country-matched controls.
Results: A total of 12,049 infants were recruited into the EuroPrevall birth cohort, and 9,336 (77.5%) were followed until 2 years. A total of 86 infants had egg allergy (84 by DBPCFC) and were matched with 140 controls. Independently associated with egg allergy were past/current eczema (adjusted odds ratio, 9.21; 95% CI, 2.65-32.04), Scoring Atopic Dermatitis (1.54 per 5 units; 1.28-1.86), antibiotics in the first week of life (6.17; 1.42-26.89), and current rhinitis (3.02; 1.04-8.78). Increasing eczema severity was associated with an increasing likelihood of egg allergy. Eczema was reported to have started 3.6 (SE, 0.5) months before egg allergy. Age of introduction of egg into the diet was not associated with egg allergy.
Conclusions: Similar to peanut allergy, eczema was strongly associated with egg allergy development and the association increased with increasing eczema severity. The age of introduction of dietary egg was not a risk factor. The potential role of antibiotics in early life as a risk factor for egg allergy needs further examination.European Commission Joint Research Centre
Landspitali University Hospital Science Fund
GlaxoSmithKline
UK Food Standards Agency
MSD
Nutricia Advanced Medical Nutrition Netherlands
AstraZeneca
TEVA Netherlands
GlaxoSmithKline
Allegria (the Italian Research Foundation for Childhood Allergy and Asthma