European training of paediatricians to paediatric pulmonologists.
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Adult↗
Biomedical subjects
J Gerritsen
Publications and source records attributed to J Gerritsen.
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.
Adult↗
Measuring health status of people who are wheelchair-dependent: validity of the Sickness Impact Profile 68 and the Nottingham Health Profile.
PURPOSE: Several questionnaires measuring health status are available, but their validity and correspondence between them in people with severe physical disabilities is not well known. In this study, the equivalence of the Nottingham Health Profile (NHP) and the Sickness Impact Profile 68 (SIP68) was examined. METHODS: Patients were 111 people who were wheelchair-bound due to spinal cord injuries (45%), rheumatic diseases (27%) or other causes (28%). Internal consistency, associations between scales of both questionnaires and with criterion variables (reflecting upper and lower extremity function, perceived health, social functioning and well-being) were examined. RESULTS: Both the NHP and the SIP68 were of acceptable clinimetric quality (Cronbach's alpha 0.53-0.85). Agreement between scales of both questionnaires was moderate for scales reflecting emotional health (0.56) and for scales reflecting physical (0.22-0.68) and social functioning (0.28-0.35). CONCLUSION: The NHP reflects perceived health, whereas the SIP68 reflects functional health status. In rehabilitation research, a careful choice between available health status measures must be made.
Persons with Disabilities↗
Are children at high familial risk of developing allergy born into a low risk environment? The PIAMA Birth Cohort Study. Prevention and Incidence of Asthma and Mite Allergy.
BACKGROUND: A family history of allergy, reflecting genetic risk factors, increases the risk of developing allergic diseases, but environmental factors, especially those present in early life, also contribute to the actual development of allergic phenomena. OBJECTIVE: To identify differences in lifestyle between allergic and non-allergic parents, which may influence the prevalence of environmental risk factors in their homes. METHODS: Data were collected in a Dutch birth cohort study by postal questionnaire about 2 months before and 3 months after the birth of the child. RESULTS: Of the 3147 infants in the study 1910 (61%) had two non-allergic parents, of 315 infants (10%) only the mother was allergic, of 787 infants (25%) only the father was allergic and 135 (4%) infants had two allergic parents. If both parents were allergic, 53% reported that allergy was taken into consideration when they furnished their home and significantly more of their homes were free of cats and free of cigarette smoke; adjusted odds ratio's for two allergic parents vs. two non-allergic parents were 0.30 (confidence interval (CI) 0.17-0.50) for the presence of cats and 0.46 (CI 0.27-0.75) for smoking in the home. Parental allergy was also associated with having a smooth floor in the baby's bedroom and with postponement of the introduction of fruits and vegetables until the age of 26 weeks. The presence of dogs at home, the prevalence of mothers' smoking during pregnancy and the decision to breast feed were unrelated to parental allergy. CONCLUSION: We conclude that studies on the relationship between allergy in parents and allergy in their offspring should always consider the home environment as a potential confounder. For allergy prevention our results imply that among allergic parents there is awareness and willingness to take measures that reduce exposure to indoor allergens.
Animals↗
Prevalence of immunoglobulin E for fungi in atopic children.
BACKGROUND: The prevalence of sensitization to fungi in young atopic patients in relation to age and clinical importance is largely unknown. OBJECTIVE: The aim of this study was to investigate the prevalence of sensitization to different fungi in atopic children in relation to age and other aeroallergens. METHODS: A total of 137 atopic children (male 62%, female 38%; mean age 5 years and 9 months, range 5 months-14 years) were studied. Sera of all patients were routinely tested for total IgE and specific IgE against aeroallergens and milk. Positive sera were also tested for IgE against Alternaria alternata, Aspergillus fumigatus, Cladosporium herbarum and Penicillium chrysogenum, using the Pharmacia Enzyme CAP procedure. RESULTS: In this study in atopic children total IgE showed a significant linear relation with age, whereas specific IgE against outdoor fungi, indoor fungi and house dust mite showed significant non-linearity with age. Prevalence of specific IgE for Cladosporium ranked first, followed closely by Aspergillus and Alternaria. Calculation of the sensitization of indoor and outdoor fungi showed maximum prevalence at 7.8 years, followed by lower values at higher ages. A similar significant relation was also found for Alternaria, while this relation was not significant for the other individual fungi. Specific IgE for indoor and outdoor fungi was associated with the presence of specific IgE for aeroallergen and milk. We found that all children aged 4 years and older showed IgE for house dust mite that did not decline with increasing age. CONCLUSIONS: Sensitization to fungi is prevalent in childhood, with an age-dependent distribution reaching maximum values at 7.7-7.8 years, followed by a decline for all fungal sensitization with increasing age. The importance and relative contribution of fungal sensitization to airway disease, compared with the other allergens, remains to be established.
Adolescent↗
Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients.
After an experimental neonatal screening program for cystic fibrosis (CF) from 1973-1979, a follow-up study took place from 1980-1997. Patients were treated at specialized centres (C) or at local hospitals (non-C). Aims of the study were: 1) to determine whether the previously reported benefits from screening persisted with time and after adjustment for confounding variables; and 2) to investigate whether centre treatment was associated with improved prognosis of CF patients. Prognosis of patients detected by screening (S; n=24) was compared with patients detected clinically, born during (non-S; n=29) and after the screening programme (post-S; n=39). In addition, prognosis was compared between 45 C and 47 non-C patients. Multivariable regression analysis was used to compare survival and mixed-effects model regression analysis was used to compare clinical outcome between patients. The analyses included the variables screening, centre treatment, sex, meconium ileus and genotype. S patients had a significantly smaller decline in forced expiratory volume in one second (FEVI) (difference +2.74% predicted) and significantly lower immunoglobulin-G (IgG) levels (difference -473.69 mg x dL(-1)) than non-S patients until 12 yrs of age. At 12 yrs of age, vital capacity was significantly higher in S patients than in non-S patients (difference +362.79 mL). Survival seemed to be best for S patients compared to both non-S and post-S patients. Post-S patients were significantly heavier (difference in SD weight +0.77), had a significantly smaller decline in FEV1 (difference +2.80% pred) and lower IgG levels (difference -453.04 mg x dL(-1)) than non-S patients until 12 yrs of age. C patients had a significantly improved survival (relative risk (RR) 0.18, 95% confidence interval 0.05-0.57) than non-C patients. Early diagnosis through neonatal screening leads to better preservation of lung function in the long term in cystic fibrosis patients. Management of cystic fibrosis patients in specialized centres improves survival.
Body Height↗
Adapting the Nottingham Health Profile for use in people with severe physical disabilities.
BACKGROUND: The Nottingham Health Profile (NHP) is a well-known quality of life questionnaire. However, wheelchair-bound patients might obtain misleading scores on the scales Physical mobility, Pain and Emotional reactions. We tested three possible adaptations of the Dutch NHP to overcome this problem. METHODS: Respondents were 111 wheelchair-using people (walking ability maximum 5 m) with spinal cord injury, rheumatic diseases and other diagnoses. Adaptation methods were formulation of new questions (Q-NHP), a recoding procedure (R-NHP) and deleting items (D-NHP). Internal consistency, correlations between original and adapted scales and correlations with upper and lower extremity function and social functioning (NHP part II) were computed. RESULTS: All adapted Pain and Emotional reactions scales were close to the original ones. The original Physical mobility scale proved invalid, resulting in better median scores for those patients who could not walk at all (38.7) than for patients who could walk a bit (50.0). The Q-NHP performed little better than the original one and suffered from greater complexity. The R-NHP showed better internal consistency (0.69 versus 0.49) and construct validity than the D-NHP. CONCLUSION: An uncomplicated recoding procedure, scoring five questions about walking problems as 'yes' if respondents confirmed the question 'I cannot walk at all', improved reliability and validity of the Dutch NHP. Use of this recoding procedure in future research using the NHP is recommended, although its applicability in other language versions has to be proven in future research.
Adult↗
Respiratory infections in infants: interaction of parental allergy, child care, and siblings-- The PIAMA study.
OBJECTIVE: To investigate the association between contacts with other children and the development of respiratory infections in the first year of life in children with or without genetic predisposition for allergy. METHODS: Children (n = 4146) who participate in a prospective birth cohort study (Prevention and Incidence of Asthma and Mite Allergy study) were investigated. Questionnaires were used to obtain information on doctor-diagnosed upper respiratory tract infection (URTI) and lower respiratory tract infection (LRTI), child care attendance, having siblings, family history of allergic disease, and various potential confounders. RESULTS: Child care attendance in the first year of life was associated with doctor-diagnosed URTI (adjusted odds ratio [AOR]: 2.7; 95% confidence interval [CI]: 2.1-3.4 for large child care facility vs no child care) and doctor-diagnosed LRTI (AOR: 5.6; 95% CI: 3.9-7.9). Having siblings was associated with doctor-diagnosed LRTI (AOR: 2.6; 95% CI: 2.0-3.4). In addition, children who have allergic parents and attend child care or have older siblings have a higher risk of developing doctor-diagnosed LRTI than do children who have nonallergic parents. CONCLUSIONS: Child care attendance or having siblings increases the risk of developing doctor-diagnosed LRTI in the first year of life to a greater extent in allergy-prone children than in children who are not allergy prone.
Adult↗
Impaired autonomic function is associated with increased mortality, especially in subjects with diabetes, hypertension, or a history of cardiovascular disease: the Hoorn Study.
OBJECTIVE: Measures of baroreflex sensitivity, heart rate variability (HRV), and the classical Ewing test parameters are currently used for the diagnosis of diabetic autonomic neuropathy and for mortality risk stratification after myocardial infarction. However, the strengths of the associations of these measures of autonomic function with risk of mortality have never been compared in one study population. Furthermore, no evidence is available on the possible effect of glucose tolerance on these associations. RESEARCH DESIGN AND METHODS: The study population (n = 605) consisted of a glucose tolerance-stratified sample from a general population (50-75 years of age). Cardiac cycle duration and continuous finger arterial pressure were measured under two conditions: at rest and on metronome breathing. From these readings, seven parameters of autonomic function were assessed (one Ewing, five HRV, and one baroreflex sensitivity). RESULTS: During 9 years of follow-up, 101 individuals died, 43 from cardiovascular causes. Subjects with diabetes and low levels of the autonomic function parameters, indicating impaired autonomic function, had an approximately doubled risk of mortality. This association was consistent, though not statistically significant, for all parameters. The elevated risk was not observed in subjects without diabetes, hypertension, or prevalent cardiovascular disease. CONCLUSIONS: Impaired autonomic function is associated with all-cause and cardiovascular mortality. Moreover, the results of the present study suggest that cardiac autonomic dysfunction in patients already at risk (diabetes, hypertension, or history of cardiovascular disease) may be especially hazardous.
Aged↗
Glucose tolerance and other determinants of cardiovascular autonomic function: the Hoorn Study.
AIMS/HYPOTHESIS: Currently, three categories of measures are used to assess cardiovascular autonomic dysfunction: measures of the Ewing-test, measures of heart-rate variability, and measures of baroreflex sensitivity. We studied the determinants of these measures obtained from cardiovascular autonomic function tests in the Hoorn Study. METHODS: The study group (n = 631) consisted of a glucose-tolerance-stratified sample from a 50- to 75-year-old group of people. Cardiac cycle duration (RR interval) and continuous finger arterial pressure were measured under three conditions: during (a) spontaneous breathing, (b) six deep breaths over one minute, and (c) an active change in position from lying to standing. From these readings, ten measures of autonomic function were assessed (three Ewing, six heart-rate variability and one baroreflex sensitivity). As possible determinants we considered age, sex, glucose tolerance, cardiovascular disease, use of anti-hypertensive drugs, anthropometric factors, metabolic factors and lifestyle factors. RESULTS: Multivariate analysis showed that eight of ten cardiovascular autonomic function measures were most strongly associated with glucose tolerance. Furthermore, measures were moderately associated with age, sex, waist-to-hip ratio, use of anti-hypertensive drugs, and insulin. The measures were weakly associated with coronary artery disease but not with lipids. The strongest determinants seemed to differ between subjects with and without diabetes: in the non-diabetic subjects the most strongly associated were age and use of anti-hypertensive drugs and in subjects with diabetes, insulin. No consistent differences in association between the three categories of measures were observed. CONCLUSION/INTERPRETATION: The strongest determinants of autonomic function were age, presence of diabetes and use of anti-hypertensive drugs.
Aged↗
Host defence mechanisms of the respiratory system.
From the moment of the first breath at the time of birth, the respiratory system must be protected from numerous insults from the environment. The way in which the airways are prepared for these insults is by an extraordinarily effective defence system. This defence system includes mechanical as well as biochemical processes that work in an integrated way to safeguard the lungs. The airways have an efficient, highly vigilant, non-inflammatory anti-microbial defence system, capable of dealing with a wide spectrum of microbes, and provide lifelong protection of these vital mucosal surfaces. The different aspects of this defence system of the airways are discussed. The effectiveness of the system must be improved, especially in children prone to frequent respiratory infections like cystic fibrosis. Future research must be focused on restoring the defect in the defence mechanism, but also in a more appropriate shield against pathogenic micro-organisms.
Bacterial Adhesion↗
Human uteroglobin gene polymorphisms and genetic susceptibility to asthma.
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Alleles↗
Genetics of allergic disease.
Atopy can express itself as asthma, rhinitis and eczema. The presence of atopy can be assessed by increased levels of total serum IgE and specific IgE to common allergens, skin test positivity and increased numbers of peripheral blood eosinophils. Genetic studies indicate that multiple genes are involved in the pathogenesis of atopy and that different genes regulate the presence of increased levels of serum total IgE and specific IgE. Linkage of these traits to chromosomal regions likely to contain atopic susceptibility genes has been replicated in several studies. Genome-wide screens have identified several new chromosomal locations that are likely to contain atopic genes. These regions also contain candidate genes. Moreover, the available literature suggests that multiple, yet different genes may be involved in the translation of atopy to a distinct clinical phenotype. We anticipate that understanding of the genetic basis of atopy will lead to new therapeutic interventions and early diagnosis.
Allergens↗
Cardiovascular autonomic function is associated with (micro-)albuminuria in elderly Caucasian sujects with impaired glucose tolerance or type 2 diabetes: the Hoorn Study.
OBJECTIVE: To determine whether impaired cardiovascular autonomic function correlates with albuminuria in an age-, sex-, and glucose tolerance-stratified sample of an elderly (50-75 years of age) Caucasian population and to determine whether this association is independent of other determinants of albuminuria. RESEARCH DESIGN AND METHODS: We studied 536 subjects, 256 with normal glucose tolerance, 143 with impaired glucose tolerance (IGT), and 137 with type 2 diabetes. Microalbuminuria was defined as an albumin-to-creatinine ratio of > or =3.0 and < or =30 mg/mmol in an early morning urine sample. We used the deep-breathing test and the lying-to-standing test to obtain 4 measurements of cardiovascular autonomic function: 1) the heart rate (HR) variability during deep breathing, 2) the maximum HR within 15 s after standing up minus the mean HR before standing, 3) the maximum R-R interval between 15 and 30 s after standing up divided by the minimum R-R interval within 15 s after standing up, and 4) the systolic blood pressure in response to standing up. These 4 measurements were summarized in a single cardiovascular autonomic function score (CAFS). RESULTS: A total of 38 subjects with microalbuminuria and 3 subjects with macroalbuminuria (>30 mg/mmol) were grouped as having albuminuria. In bivariate analyses, albuminuria was associated with age, waist-to-hip ratio, systolic and diastolic blood pressure, calculated glomerular filtration rate, and glucose tolerance status. The mean CAFS was higher in subjects with versus without albuminuria (7.5 vs. 5.9, P<0.001). Multiple logistical regression analyses revealed that the CAFS was independently associated with albuminuria in subjects with IGT or type 2 diabetes with an odds ratio (95% CI) of 1.19 (1.02-1.39) per point increase in the CAFS. CONCLUSIONS: Impaired cardiovascular autonomic function is independently associated with (and thus a possible contributor to) the presence of albuminuria in subjects with IGT or type 2 diabetes.
Aged↗
Baroreflex sensitivity in the elderly: influence of age, breathing and spectral methods.
Baroreflex sensitivity (BRS) has been proposed as a diagnostic parameter for neurological disorders and as a survival-prognosis parameter in diabetic and cardiac patients. Therefore reference values and the reproducibility of BRS were assessed, taking into account the possible influence of age, gender, test conditions and some analysis variants. Healthy subjects (n=191) were randomly selected from the 50-75-year-old general population (the Hoorn Study). Variations in blood pressure and heart rate were recorded non-invasively during three breathing modes: spontaneous (3 min), slow metronome (1 min; 6 breaths/min=0.1 Hz) and fast metronome (1 min; 15 breaths/min=0.25 Hz), all in a supine position. From these recordings, BRS was assessed as the transfer gain between changes in blood pressure and heart period, and as the alpha coefficient. BRS values ranged from 5.0 to 8.9 ms.mmHg(-1). Slow metronome breathing resulted in higher BRS values than fast breathing, while during spontaneous breathing BRS in the low-frequency band was lower than that in the high-frequency band (respiratory origin). BRS values decreased with lower coherence criteria. BRS-alpha was significantly higher than BRS-gain. While regression analysis showed no gender differences, BRS decreased with age. Therefore age-specific reference values were calculated. The reproducibility of BRS values was in general moderate, with reliability coefficients ranging from 43 to 81% and coefficients of variation ranging from 34 to 59%. In conclusion, this study shows age, breathing mode, frequency and coherence threshold to affect measures of BRS. Therefore these factors should be considered in clinical studies; appropriate reference values are given.
Age Factors↗
Effects of ambient air pollution on upper and lower respiratory symptoms and peak expiratory flow in children.
BACKGROUND: Previous epidemiological studies have shown acute effects of increased amounts of ambient air pollution on the prevalence of respiratory symptoms in children with respiratory disorders. We investigated whether children with bronchial hyperresponsiveness (BHR) and relatively high serum concentrations of total IgE (>60 kU/L, the median value) are susceptible to air pollution. METHODS: We collected data from children during three winters (1992-95) in rural and urban areas of the Netherlands. Lower respiratory symptoms (wheeze, attacks of wheezing, shortness of breath), upper respiratory symptoms (sore throat, runny or blocked nose), and peak expiratory flow were recorded daily for 3 months. The acute effects of airborne particulate matter with a diameter of less than 10 microm, black smoke, sulphur dioxide, and nitrogen dioxide were estimated by logistic regression. FINDINGS: 459 (73%) of 632 children had complete data. Of these, 26% had BHR and relatively high (above median) serum total IgE, 36% had no BHR and total IgE of 60 kU/L or less, 15% had BHR and total IgE of 60 kU/L or less, and 23% had a total IgE of more than 60 kU/L but no BHR. In children with BHR and relatively high serum total IgE the prevalence of lower respiratory symptoms increased significantly by between 32% and 139% for each 100 microm/m3 increase in particulate matter, and between 16% and 131% for each 40 microm/m3 increase in black smoke, SO2, or NO2. Decrease in peak expiratory flow of more than 10% in that group was more common with increased airborne particulate matter and black smoke. There were no consistent positive or negative associations between increased air pollution and prevalence of respiratory symptoms or decrease in peak expiratory flow in the other three groups of children. INTERPRETATION: Children with BHR and relatively high concentrations of serum total IgE are susceptible to air pollution. Although our odds ratios were rather low (range 1.16-2.39) the overall effect of air pollution on public health is likely to be substantial since these odds ratios refer to large numbers of people.
Air Pollutants↗
Risk factors from childhood to adulthood for bronchial responsiveness at age 32-42 yr.
UNLABELLED: Bronchial responsiveness (BR) is an important risk factor for the development and outcome of asthma. This study assessed childhood risk factors for both the severity of BR in adulthood and either improvement or worsening of BR over time. Finally, we studied cross-sectional risk factors of BR in adulthood. Between 1966 and 1969, 119 allergic asthmatic children (5-14 yr of age) were studied. Of these, 101 (85%) subjects were reinvestigated at age 22-32 yr (visit 2), and at age 32-42 yr (visit 3). Spirometry, PC10 histamine, skin tests, blood eosinophils, and serum total IgE were measured and a questionnaire was used. Higher FEV1 values in childhood were associated with less severe BR at age 32-42 yr independent of other potential risk factors. Larger increases in FEV1 values both from visit 1 to 2 and from visit 2 to 3, a longer time interval from visit 1 to 3, and having pets in childhood were associated with less severe BR at age 32-42 yr. The same factors were found to be associated with less deterioration of BR from visit 2 to 3. In nonsmokers a higher IgE level at visit 2 was a risk factor for an increase in BR. At age 32-42 yr, a low level of lung function and the presence of asthma symptoms were associated with more severe BR, and older age and having pets were associated with less severe BR. IgE was related to more severe BR only in nonsmokers. CONCLUSIONS: A lower lung function in childhood and less improvement in FEV1 over time were associated with more severe BR in adulthood.
Adolescent↗