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1.
Sleep Med ; 102: 64-75, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36603513

RESUMO

OBJECTIVE/BACKGROUND: Healthy sleep is particularly important for children with attention deficit hyperactivity disorder (ADHD), as sleep disturbances might aggravate disease symptoms. This review aims to synthesize and report evidence on the effectiveness of sleep interventions in increasing sleep, quality of life (QoL), and ADHD symptoms among children with ADHD. PATIENTS/METHODS: The systematic literature review follows the Cochrane Collaboration methodology recommendations for literature reviews. Four databases were used based on the population, intervention, control and outcome (PICO) framework. Controlled trials with minimum 20 children in each group, aged 6-18, and published from 2005 and onwards were included. Results from the studies were reported in forest plots and three of the seven review outcomes were synthesized in meta-analyses. RESULTS: The search identified 7710 records; of which 4808 abstracts were screened. After fulltext-screening of 99 papers, eight papers from five studies were included. The studies included behavioral sleep interventions and pharmacological interventions using melatonin and eszopiclone. For six of the seven outcomes, the effect sizes were small to moderate and the certainty of the evidence was low. For one outcome, sleep disturbances, the effect size was a moderate -0.49 standardized mean differences (95% confidence interval -0.65;-0.33), with a moderate certainty of evidence for the behavioral interventions for children aged 5-13 years with ADHD. CONCLUSIONS: This review identified few and heterogeneous studies. A moderate certainty of evidence for a moderate effect size was only obtained for sleep disturbances from the behavioral interventions. A low certainty of the evidence for a moderate effect size was found for the total sleep time from the pharmacological intervention using melatonin and one behavioral intervention, which indicates that these sleep interventions impact sleep quantity and quality among children with ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Melatonina , Transtornos do Sono-Vigília , Criança , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Qualidade de Vida , Melatonina/uso terapêutico , Terapia Comportamental/métodos , Transtornos do Sono-Vigília/terapia , Sono
2.
Issues Ment Health Nurs ; 44(2): 104-111, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36649626

RESUMO

The process of personal recovery among persons diagnosed with schizophrenia may be facilitated through innovative health promotion interventions targeting multidimensional aspects of subjective well-being. The current pilot study aims to test the use of self-rated questionnaires as a means of evaluation of the effects of an equine-assisted intervention for persons diagnosed with schizophrenia. Twenty adults diagnosed with schizophrenia were offered a 12-week EAT intervention performed six times once every 14 days by a licensed mental health nurse. Two validated self-rated questionnaires, HSCL-25 and SHIS were used as outcome measurements at baseline and at post-treatment, additionally the self-rated questionnaire PANAS was completed twice a week starting 1 week before the 12 week-EAT intervention. Only six of the 20 participants managed to complete the validated questionnaires. Despite the low response rate of approximately 30%, a significant difference was found between pre and post scores for positive affect and well-being. Effect sizes, ranging from small to large for pre-to-post treatment scores indicated less depression and anxiety, more positive affect, less negative affect, and reinforced well-being. Results suggest that EAT interventions may have beneficial effects among persons diagnosed with schizophrenia and that a varied range of research methods are needed to create a solid evidence base for EAT interventions intended for the target group.


Assuntos
Esquizofrenia , Humanos , Animais , Cavalos , Esquizofrenia/terapia , Projetos Piloto , Ansiedade/terapia , Inquéritos e Questionários
3.
Scand J Med Sci Sports ; 28(4): 1461-1466, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29283451

RESUMO

Research has shown that high levels of stress and stress responsivity can increase the risk of injuries. However, most of the research that has supported this notion has focused on between-person relationships, ignoring the relationships at the within-person level. As a result, the objective of this study was to investigate if within-person changes in perceived stress symptoms over a 1-month time period could predict injury rates during the subsequent 3 months. A prospective design with two measurement points (Time 1-at the beginning of the season and Time 2-1 month into the season) was utilized. A total of 121 competitive soccer players (85 males and 36 females; Mage  = 18.39, SD = 3.08) from Sweden and the United States completed the Kessler Psychological Distress Scale (KPDS) and a demographic sheet at Time 1. The KPDS was also completed at Time 2, and all acute injuries that occurred during the subsequent 3-month period were recorded. A Bayesian latent change scores model was used to determine whether within-person changes in stress symptoms could predict the risk of injury. Results revealed that there was a credible positive effect of changes in stress symptoms on injury rates, indicating that an increase in reported stress symptoms was related to an increased risk for injury. This finding highlights the importance of creating caring and supportive sporting environments and relationships and teaching stress management techniques, especially during the earlier portion of competitive seasons, to possibly reduce the occurrence of injuries.


Assuntos
Traumatismos em Atletas/epidemiologia , Futebol/lesões , Estresse Psicológico/epidemiologia , Adolescente , Teorema de Bayes , Feminino , Humanos , Masculino , Estudos Prospectivos , Fatores de Risco , Suécia , Estados Unidos , Adulto Jovem
4.
Scand J Med Sci Sports ; 28(3): 1215-1226, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29087026

RESUMO

Burnout is a construct that has garnered considerable attention in sport psychology within recent years. Several hypothesized models regarding how the three dimensions (exhaustion, devaluation, and reduced sense of accomplishment) temporally relate to each other have been advanced. One proposal outlined by Maslach and Leiter suggests that exhaustion predicts devaluation which predicts reduced sense of accomplishment. However, there is no consensus among researchers as it has been argued that exhaustion predicts devaluation and reduced accomplishment separately. The aim of this study was to test multiple alternative hypotheses regarding the relationships of the burnout dimensions in athletes. Two samples of Swedish youth elite athletes with differing time spans between measurements were used. Specifically, one sample involved time-intensive measures collected every week over an eight-week period, and the other sample included four measurement points across an 18-month period. Results showed that none of the previously proposed models outlining the temporal relations of burnout dimensions were supported. Statistical analysis of the models including the cross-lagged predictions of dimensions did not have any statistically significant impact except when exhaustion negatively predicted devaluation between time 1 (month 0) and time 2 (month 6) in the 18-month sample; this relation faded in the following time points. Further, issues regarding the stability of devaluation and reduced sense of accomplishment emerged as their autocorrelation were very weak in the time-intensive sample. These findings raise a number of points for further theoretical and practical discussions about the athlete burnout construct.


Assuntos
Atletas/psicologia , Esportes/psicologia , Estresse Psicológico , Fatores de Tempo , Logro , Adolescente , Fadiga , Feminino , Humanos , Masculino , Modelos Estatísticos , Inquéritos e Questionários , Adulto Jovem
5.
Aliment Pharmacol Ther ; 41(11): 1038-54, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25819114

RESUMO

BACKGROUND: New evidence emerged on early feeding practices and the risk of coeliac disease. AIM: To systematically update evidence on these practices to find out whether there is a need to revise current recommendations. METHODS: MEDLINE, EMBASE and the Cochrane Library were searched from July 2012 (end of last search) to February 2015 for studies of any design that assessed the effect of gluten consumption and breastfeeding on the development of coeliac disease and/or coeliac disease-related autoimmunity. RESULTS: We identified 21 publications, including two, new, large, randomised controlled trials performed in high-risk infants. Exclusive or any breastfeeding, as well as breastfeeding at the time of gluten introduction, did not reduce the risk of developing coeliac disease during childhood. For infants at high risk of developing coeliac disease, gluten introduction at 4 months of age in very small amounts, or at 6 or 12 months of age, resulted in similar rates of coeliac disease diagnosis in early childhood. Later gluten introduction was associated with later development of coeliac specific autoimmunity and coeliac disease during childhood, but not total risk reduction. Observational studies indicate that consumption of a higher amount of gluten at weaning may increase the risk for coeliac disease development. CONCLUSIONS: Infant feeding practices (breastfeeding, time of gluten introduction) have no effect on the risk of developing coeliac disease during childhood (at least at specific timeframes evaluated in the included studies), necessitating an update of current European recommendations.


Assuntos
Aleitamento Materno , Doença Celíaca/epidemiologia , Comportamento Alimentar/fisiologia , Doença Celíaca/etiologia , Glutens/administração & dosagem , Glutens/efeitos adversos , Humanos , Lactente , Fatores de Tempo , Desmame
6.
J Nutr Sci ; 3: e2, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25191610

RESUMO

A dietary survey was performed during a large screening study in Sweden among 13-year-old adolescents. The aim was to study how the intake of food groups was affected by a screening-detected diagnosis of coeliac disease (CD) and its gluten-free (GF) treatment. Food intake was reported using a FFQ, and intake reported by the adolescents who were diagnosed with CD was compared with the intake of two same-aged referent groups: (i) adolescents diagnosed with CD prior to screening; and (ii) adolescents without CD. The food intake groups were measured at baseline before the screening-detected cases were aware of their CD, and 12-18 months later. The results showed that food intakes were affected by screen-detected CD and its dietary treatment. Many flour-based foods were reduced such as pizza, fish fingers and pastries. The results also indicated that bread intake was lower before the screened diagnosis compared with the other studied groups, but increased afterwards. Specially manufactured GF products (for example, pasta and bread) were frequently used in the screened CD group after changing to a GF diet. The present results suggest that changing to a GF diet reduces the intake of some popular foods, and the ingredients on the plate are altered, but this do not necessarily include a change of food groups. The availability of manufactured GF replacement products makes it possible for adolescents to keep many of their old food habits when diagnosed with CD in Sweden.

7.
J Hum Nutr Diet ; 27(1): 41-53, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23701396

RESUMO

BACKGROUND: Food habits, nutrient needs and intakes differ between males and females, although few nutritional studies on patients with coeliac disease (CD) have reported results stratified by gender. OBJECTIVES: To compare energy and nutrient intakes among 13-year olds diagnosed with CD in early childhood with those of a non-coeliac (NC) age- and gender-matched control group, and also with estimated average requirements (EAR). METHODS: A case-control study was conducted in Sweden 2006-2007 within the coeliac screening study ETICS (Exploring The Iceberg of Coeliacs in Sweden). Dietary intake was assessed among 37 adolescents (23 girls) diagnosed with CD at median age 1.7 years (CD group) and 805 (430 girls) NC controls (NC group) using a food-frequency questionnaire covering 4 weeks. Reported energy intake was validated by comparison with the calculated physical activity level (PAL). RESULTS: Regardless of CD status, most adolescents reported an intake above EAR for most nutrients. However, both groups had a low intake of vitamin C, with 13% in the CD-group and 25% in the NC-group below EAR, and 21% of boys in the CD-group below EAR for thiamine. The intake of fatty acids was unbalanced, with a high intake of saturated and a low intake of unsaturated fats. Girls and boys in the CD-group had an overall lower nutrient density in reported food intake compared to girls and boys in the NC-group. CONCLUSIONS: Nutrient intake of adolescent girls and boys with CD was mostly comparable to intakes of NC controls. Dietitians should take the opportunity to reinforce a generally healthy diet when providing information about the gluten-free diet.


Assuntos
Doença Celíaca/diagnóstico , Ingestão de Energia , Comportamento Alimentar , Avaliação Nutricional , Adolescente , Peso Corporal , Estudos de Casos e Controles , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Pré-Escolar , Registros de Dieta , Dieta Livre de Glúten , Feminino , Humanos , Lactente , Masculino , Micronutrientes/administração & dosagem , Necessidades Nutricionais , Reprodutibilidade dos Testes , Suécia
8.
Aliment Pharmacol Ther ; 36(7): 607-18, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22905651

RESUMO

BACKGROUND: PREVENTCD, Prevent Coeliac Disease, is an international project investigating the hypothesis of possible induction of tolerance to gluten in genetically predisposed children through introducing small quantities of gluten during the period of breastfeeding. AIM: To summarise current knowledge on the possible relationship between early feeding practices and the risk of coeliac disease (CD). METHODS: The Cochrane Library, MEDLINE, and EMBASE databases were searched in May 2011, and the search was updated in January 2012, and again in July 2012. RESULTS: Breastfeeding (BF) and CD: some studies show a protective effect of BF, while others show no effect. No studies have shown a long-term preventive effect. BF at the time of gluten introduction and CD: Results from a meta-analysis of five observational case-control studies suggest that BF at gluten introduction is associated with a lower risk of CD compared with formula feeding. It is unclear whether BF provides a permanent protection or only delays the onset of CD. Timing of gluten introduction: The data suggest that both early (≤4 months) and late (≥7 months) introduction of gluten may increase the risk of CD. Amount of gluten at weaning (and later) and CD: One incident case-referent study documented that the introduction of gluten in large amounts compared with small or medium amounts increased the risk of CD. CONCLUSIONS: In the absence of clear evidence, in order to decrease the risk of later coeliac disease, it is reasonable to avoid both early (<4 months) and late (≥7 months) introduction of gluten, and to introduce gluten while the infant is still being breastfed. Future studies may clarify the remaining uncertainties.


Assuntos
Aleitamento Materno/métodos , Doença Celíaca/prevenção & controle , Estudos de Casos e Controles , Doença Celíaca/etiologia , Doença Celíaca/fisiopatologia , Predisposição Genética para Doença , Glutens/administração & dosagem , Glutens/efeitos adversos , Humanos , Lactente , Fatores de Risco , Fatores de Tempo , Desmame
9.
Acta Paediatr ; 100(7): 1023-7, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21284717

RESUMO

AIM: Increased concentration of nitric oxide (NO) metabolites, nitrite and nitrate, in the urine is a strong indication of ongoing small intestinal inflammation, which is a hallmark of the enteropathy of coeliac disease (CD). It has previously been shown that children with symptomatic, untreated CD have increased levels of NO oxidation products in their urine. The aim of this study was to investigate whether screening-detected, asymptomatic coeliac children display the same urinary nitrite/nitrate pattern. METHODS: In a multicenter screening study, serum samples were collected from 7208 12-year-old children without previously diagnosed CD. Sera were analysed for anti-human tissue transglutaminase (tTG) of isotype IgA. Small bowel biopsy was performed in antibody-positive children, yielding 153 new cases of CD. In the screening-detected individuals, the sum of nitrite and nitrate concentrations in the urine was analysed and used as an indicator of NO production. For comparison, 73 children with untreated, symptomatic CD were studied. RESULTS: The nitrite/nitrate levels in children with screening-detected CD and those with untreated symptomatic CD did not differ significantly. Both groups had significantly increased urinary nitrite/nitrate concentrations compared to the children with normal small bowel biopsy (p < 0.001). CONCLUSION: Children with screening-detected CD have increased production of NO just as children with untreated symptomatic CD. High NO metabolite levels in the urine may indicate a pathogenetic feature of CD and be a marker of major clinical importance.


Assuntos
Doença Celíaca/diagnóstico , Programas de Rastreamento/métodos , Nitratos/urina , Óxido Nítrico/urina , Nitritos/urina , Biomarcadores/urina , Biópsia , Doença Celíaca/sangue , Doença Celíaca/urina , Criança , Feminino , Humanos , Imunoglobulina A/sangue , Masculino , Transglutaminases/imunologia
10.
Scand J Med Sci Sports ; 21(1): 129-36, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20136759

RESUMO

Previous researches have established models that specify psychological factors that could predict sport injuries. One example is Williams and Andersen's stress-injury model stressing factors such as anxiety, negative life stress and few coping resources. The purpose of the current study was to find psychological factors that could lead to an increased injury risk among junior soccer players, in addition to construct an empirical model of injury risk factors for soccer players. The participants were 108 male and female soccer players (m=17, 6) studying at soccer high schools in southwest Sweden. Five questionnaires were used, State Trait Anxiety Inventory, Sport Anxiety Scale, Life Events Survey for Collegiate Athletes, Athletic Coping Skills Inventory-28 and Swedish universities Scales of Personality. Injury record was collected by athletic trainers at the schools during a period of 8 months. The result suggested four significant predictors that together could explain 23% of injury occurrence. The main factors are life event stress, somatic trait anxiety, mistrust and ineffective coping. These findings partly support Williams and Andersen's stress-injury model and are organized into an empirical model. Recommendations are given to sport medicine teams and coaches concerning issues in sport injury prevention.


Assuntos
Ansiedade/diagnóstico , Traumatismos em Atletas/psicologia , Futebol/lesões , Futebol/psicologia , Estresse Psicológico/diagnóstico , Adaptação Psicológica , Adolescente , Análise de Variância , Ansiedade/psicologia , Feminino , Humanos , Acontecimentos que Mudam a Vida , Modelos Logísticos , Masculino , Valor Preditivo dos Testes , Estresse Psicológico/psicologia , Inquéritos e Questionários , Adulto Jovem
12.
J Hum Nutr Diet ; 21(4): 359-67, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18754144

RESUMO

BACKGROUND: Noncompliance with the gluten-free diet is often reported among adolescents with coeliac disease. However, knowledge is limited regarding their own perspectives and experiences of managing the disease and the prescription of a gluten-free diet. The aim of this study was to explore how adolescents with coeliac disease perceive and manage their everyday lives in relation to a gluten-free diet. METHODS: In total, 47 adolescents with coeliac disease, divided into 10 focus groups, were interviewed. In the qualitative analysis, themes emerged to illustrate and explain the adolescents' own perspectives on life with a gluten-free diet. RESULTS: The probability of compliance with the gluten-free diet was comprised by insufficient knowledge of significant others, problems with the availability and sensory acceptance of gluten-free food, insufficient social support and their perceived dietary deviance. Three different approaches to the gluten-free diet emerged: compliers, occasional noncompliers, and noncompliers. Each approach, as a coping strategy, was rational in the sense that it represented the adolescents' differing views of everyday life with coeliac disease and a prescription of a gluten-free diet. CONCLUSIONS: dolescents with coeliac disease experience various dilemmas related to the gluten-free diet. The study demonstrated unmet needs and implies empowerment strategies for optimum clinical outcomes.


Assuntos
Doença Celíaca/dietoterapia , Doença Celíaca/psicologia , Dieta com Restrição de Proteínas , Glutens/administração & dosagem , Cooperação do Paciente , Adolescente , Fenômenos Fisiológicos da Nutrição do Adolescente , Comportamento Alimentar/psicologia , Feminino , Grupos Focais , Glutens/efeitos adversos , Humanos , Masculino , Apoio Social
13.
Aliment Pharmacol Ther ; 27(11): 1030-43, 2008 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-18315588

RESUMO

BACKGROUND: CDEUSSA is a Specific Support Action project from the Sixth Framework Programme Priority of the European Union (EU). Its aim is to bring together basic and applied research in the area of coeliac disease (CD). This paper reviews the main issues that are a result of the CDEUSSA initiative. AIM: To identify the major issues in need of investigation in the areas of clinical aspects, treatment, prevention and public health. METHODS: Key stakeholders, representing a wide range of knowledge with crucial importance for CD research and practice, have participated in two workshops aimed at identifying and proposing to the EU, as high priority research, topics in the areas of clinical aspects, treatment, prevention and public health. RESULTS: In public health, the overall goal should be to improve quality of life of the European population by implementing primary prevention strategies, early diagnosis and improved treatments for CD. New treatment strategies need to be developed. The option of primary prevention should be fully explored, which requires combined epidemiological, clinical and basic scientific research efforts. Such studies should also consider the importance of gene-environment interactions in the development of CD. Increased knowledge is needed on the natural history of CD. Diagnostic criteria need to be revised. CONCLUSIONS: To achieve these goals, a collaboration of the stakeholders is fundamental, including research and patient organizations, as well as industries within both diagnostics and food production.


Assuntos
Doença Celíaca/diagnóstico , Diagnóstico Diferencial , Glutens/administração & dosagem , Pesquisa Biomédica , Doença Celíaca/dietoterapia , Europa (Continente) , Glutens/efeitos adversos , Humanos
14.
J Epidemiol Community Health ; 57(1): 36-9, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12490646

RESUMO

STUDY OBJECTIVE: Coeliac disease, also called permanent gluten sensitive enteropathy, is being recognised as a widespread health problem. Defining the possible role of environmental factors in its aetiology might open doors to primary prevention. This study therefore analysed if the risk for coeliac disease varies with month of birth as a proxy for a seasonal pattern for possible causal environmental exposure(s). DESIGN: A population based incidence register of coeliac disease in children below 15 years of age covering the period from 1973 to 1997. Incidence rates were calculated by month of birth, stratified for age at diagnosis. Poisson regression analyses were used to estimate the relative risk for coeliac disease for children below 2 years of age by season of birth, also taking into account gender and time period of diagnosis. SETTING: Sweden. PARTICIPANTS: All 2151 children in the study base with verified coeliac disease. MAIN RESULTS: The risk for coeliac disease was significantly higher if born during the summer as compared with the winter (RR=1.4, 95% CI 1.2 to 1.7), but only in children below 2 years of age at diagnosis. This relative seasonal risk pattern prevailed during a 10 year epidemic of coeliac disease, although incidence rates varied threefold. The incidence was constantly higher among girls as compared with boys, but boys showed a more pronounced seasonal variation in risk than girls. CONCLUSIONS: An increased coeliac disease risk in children born in the summer compared with the winter reflects causal environmental exposure(s) with a seasonal pattern. Infections might be the exposure of importance, either by means of a direct causal role and/or through interaction with other exposures, for example, gluten intake. However, non-infectious exposures should also be explored as possible contributing causal factors.


Assuntos
Doença Celíaca/epidemiologia , Estações do Ano , Adolescente , Doença Celíaca/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Fatores de Risco , Distribuição por Sexo , Suécia/epidemiologia
15.
Acta Paediatr ; 91(10): 1126-9, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12434901

RESUMO

AIM: A correct diagnosis of coeliac disease, one of the most common chronic diseases in Swedish children, demands small bowel biopsy, which can be performed endoscopically or by means of a peroral capsule. Recently there was a debate among Swedish paediatric gastroenterologists, with some advocating the cessation of capsule biopsy in favour of endoscopic biopsies. To gain information on which to base a recommendation for which technique to use, the Swedish Working Group for Childhood Coeliac Disease was commissioned to carry out a national questionnaire study on current small bowel biopsy routines in Swedish paediatric clinics. METHODS: A questionnaire concerning biopsy routines in the year 2000 was sent to all paediatric clinics performing biopsies. A reply was obtained from 39 of 40 clinics, covering 98% of the Swedish population. RESULTS: Some 1400 biopsies were performed, 64% of which were capsule biopsies and 36% endoscopic. Three clinics performed all biopsies endoscopically and 11 clinics all via a capsule. At endoscopy all children were under deep sedation or full anaesthesia, while most children undergoing capsule biopsy were under light or deep sedation. The oxygen saturation was monitored during endoscopy but less often or never during routine capsule biopsy. The presence of the parents during biopsy varied according to the degree of sedation: at 97% of the clinics performing capsule biopsy on children under light sedation, the parents were present during the whole procedure, whereas no parents were present at clinics where the biopsy was performed endoscopically under anaesthesia. CONCLUSION: Compared with the results of a similar questionnaire concerning biopsy routines performed in the early 1990s, children are now more effectively sedated. Furthermore, there is an obvious trend from capsule towards endoscopic biopsy. Both the endoscopic and the capsule biopsy techniques are useful and satisfactory for obtaining small bowel mucosal samples providing that the children are effectively sedated. For practical and economic reasons the capsule biopsy technique will probably continue to be used, although to a lesser extent than today.


Assuntos
Intestino Delgado/patologia , Padrões de Prática Médica , Biópsia/métodos , Doença Celíaca/patologia , Criança , Sedação Consciente , Endoscopia , Humanos , Mucosa Intestinal/patologia , Suécia
17.
Hum Genet ; 109(5): 551-8, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11735031

RESUMO

Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the clinical characteristics of DCO has also been described in sporadic and a few familial cases but the genetic defect underlying IMD is unknown. In this study, we have examined 28 probands with DCO and seven probands with IMD for mutations in the SHOX gene by using polymorphic CA-repeat analysis, fluorescence in situ hybridisation (FISH), Southern blotting, direct sequencing and fibre-FISH analyses. This was combined with auxological examination of the probands and their family members. Evaluation of the auxological data showed a wide intra- and interfamilial phenotype variability in DCO. Out of 28 DCO probands, 22 (79%) were shown to have mutations in the SHOX gene. Sixteen unrelated DCO families had SHOX gene deletions. Four novel DCO-associated mutations were found in different families. In two additional DCO families, the previously described nonsense mutation (Arg195Stop) was detected. We conclude that mutations in the SHOX gene are the major factor in the pathogenesis of DCO. In a female proband with severe IMD and her unaffected sister, we detected an intrachromosomal duplication of the SHOX gene.


Assuntos
Estatura/genética , Genes Homeobox , Proteínas de Homeodomínio/genética , Osteocondrodisplasias/genética , Southern Blotting , Humanos , Hibridização in Situ Fluorescente , Fenótipo , Reação em Cadeia da Polimerase , Proteína de Homoeobox de Baixa Estatura , Síndrome
18.
J Intern Med ; 250(3): 241-8, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11555129

RESUMO

OBJECTIVE: To determine which serological marker(s) to use when screening for coeliac disease. DESIGN: In a population-based cross-sectional study we compared the use of antigliadin antibodies (AGA) of isotypes IgA and IgG, antiendomysial antibodies (AEA) of isotype IgA and antitransglutaminase antibodies (ATGA) of isotype IgA for detecting coeliac disease amongst adults. SETTING: Northern Sweden. SUBJECTS: A total of 1850 of 2500 (74%) invited adults (aged 25-74 years) who were randomly selected from the population register after stratification for age and sex. MAIN OUTCOME MEASURES: The sensitivity, specificity and predictive values of the AGA, ATGA and AEA tests. RESULTS: Nine cases of biopsy proven, previously undiagnosed coeliac disease were detected by screening. The sensitivity of both ATGA and AEA was 100% whilst AGA IgA and IgG both had a sensitivity of 89%. The AEA test had a specificity of 100% whereas the specificities of the ATGA, AGA IgA and IgG tests were 97, 96 and 78%, respectively. The positive predictive value for the AEA test was 100%, whereas it was considerably lower for the other tests (ATGA > AGA IgA > AGA IgG), with further decreases for all tests when shifting from a clinical to a screening situation. CONCLUSIONS: When screening for coeliac disease we suggest a serial testing approach, i.e. an initial ATGA test and, when positive, followed by an AEA test, provided that IgA deficiency has been excluded. However, assessment of the small intestinal mucosal morphology is still required to ascertain the diagnosis.


Assuntos
Doença Celíaca/epidemiologia , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Isotipos de Imunoglobulinas/sangue , Programas de Rastreamento , Adulto , Idoso , Doença Celíaca/imunologia , Estudos Transversais , Feminino , Gliadina/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Transglutaminases/imunologia
19.
Clin Diagn Lab Immunol ; 8(3): 564-70, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11329459

RESUMO

The prevalence of celiac disease (CD) in Sweden is about 4 cases per 1,000 people. Screening for CD with serological tests indicates similar high prevalences in many other countries. Between 1 November 1992 and 30 April 1995, 133 children (9 months to 16.7 years of age) with suspected CD were studied. The predictive value (PV) of immunoglobulin A antigliadin antibodies (IgA-AGA) in the serum as assayed with two new commercial automated immunoassays--the Pharmacia CAP System Gliadin IgA FEIA (CAP) and the UNICAP-100 (UNICAP)--and with three "in-house" methods was evaluated using assessment of the small intestinal mucosa morphology as the "gold standard." All serum samples were analyzed for total serum IgA. At presentation the diagnostic sensitivities and specificities of the different tests varied from 0.72 to 0.88 and 0.67 to 0.87, respectively. All methods showed a higher sensitivity for CD in younger children. The area under each assay's receiver operating characteristic curve was calculated and varied between 0.82 and 0.89. The positive and negative PVs for the CAP and UNICAP, which were assays with a high sensitivity and a high specificity, respectively, were estimated. In the clinically selected population (prevalence of CD, 1 in 3) the positive PV was about 55%, and in the general population (prevalence, 1 in 250) it was about 1%. The negative PVs for both CAP and UNICAP were close to 100%; thus, when the AGA test was negative, the risk for CD was small. Interestingly, five children had serum IgA levels below the detection limit (<0.07 g/liter) when on a gluten-free diet, whereas they had normal levels at the time of the first biopsy. In conclusion, the automated immunoassays--based on ImmunoCAP technology--for analysis of IgA-AGA had a reliability comparable to that of the in-house methods.


Assuntos
Anticorpos/imunologia , Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Gliadina/imunologia , Imunoensaio/métodos , Adolescente , Anticorpos/análise , Criança , Pré-Escolar , Humanos , Imunoglobulina A/imunologia , Lactente , Valor Preditivo dos Testes , Sensibilidade e Especificidade
20.
Early Hum Dev ; 65 Suppl: S153-60, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11755046

RESUMO

Coeliac disease, also called permanent gluten sensitive enteropathy, has recently been recognised as constituting a widespread health problem. Effective treatment involves the strict exclusion of wheat, rye, barley and possibly also oats from the diet. Genetic susceptibility and the presence of gluten in the diet are prerequisites for developing the disease. Sweden has recently experienced an epidemic of coeliac disease in children below 2 years of age. Previously, considerable changes in incidence over time have also been reported from England, Scotland and Ireland. Such obvious changes in incidence over rather short time periods, in genetically stable populations, emphasise the importance of environmental factors in the aetiology. Thus, most likely, the aetiology of coeliac disease is multifactorial. However, further conclusive evidence is required to settle if environmental factors, beyond presence of gluten in the diet, really influence the immunological process resulting in the coeliac small intestinal lesion, or merely influence the clinical expression of the disease. The search for contributing exposures has thus far focused on early feeding, suggesting that breast-feeding duration and the amount of gluten consumed are of importance, and possibly also the age for introducing gluten into the diet of infants. The pattern of causation may vary over time and between countries, however, which may obscure the search for risk factors. Nevertheless, a challenging possibility that needs to be explored is if coeliac disease can be delayed, or possibly even prevented for an entire life span, by favourable dietary habits.


Assuntos
Doença Celíaca/epidemiologia , Dieta , Glutens/administração & dosagem , Aleitamento Materno , Doença Celíaca/etiologia , Surtos de Doenças , Inglaterra/epidemiologia , Finlândia/epidemiologia , Predisposição Genética para Doença , Irlanda/epidemiologia , Escócia/epidemiologia , Suécia/epidemiologia
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