Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation

OBJECTIVE: Since Wnt signaling plays an important role in both tooth agenesis and altered intestine homeostasis, the aim was to compare gastrointestinal symptoms in patients with isolated oligodontia caused by a Wnt pathway gene mutation and controls. METHODS: A case-control study was designed to compare self-reported gastrointestinal symptoms among patients with isolated oligodontia, caused by a Wnt signaling gene mutation, and fully dentate controls. The Gastrointestinal Symptom Rating Scale (GSRS) was used to assess gastrointestinal symptoms. Prevalence and severity of gastrointestinal symptoms among patients and age- and gender-matched controls was evaluated. RESULTS: Twenty patients with isolated oligodontia and a pathogenic variant in the wnt pathway genes WNT10A, LRP6 or PAX9 participated. The prevalence of gastrointestinal symptoms was higher in the oligodontia patients compared to their controls (Χ2 (1) = 87.33, p = .008). Mean GSRS total scores (p = .011) and domain scores for 'abdominal pain' (p = .022), 'reflux' (p = .003) and constipation (p = .030) were higher for these oligodontia patients compared to their controls. CONCLUSION: Gastrointestinal symptoms are more prevalent and more severe in patients with isolated oligodontia and a deficiency in a Wnt pathway related gene, when compared to controls without tooth agenesis

Verslag van de 159e zomerbijeenkomst te Den Hoorn

Tijdens de 159e zomervergadering van de NEV, die plaatsvond op Texel van 4 tot 6 juni 2004, zijn 1117 taxa van veertien insectenordes waargenomen. Hoewel ook dit keer wat aantal soorten betreft, kevers de boventoon voerden zijn er geen nieuwe keversoorten voor de provincie Noord-Holland gevonden. Met soortenlijst en lijst van vindplaatse

Long-term exposure to ultrafine particles and incidence of cardiovascular and cerebrovascular disease in the EPIC-NL cohort

Background: There is a small but growing evidence base that exposure to ultrafine particles (UFP – particles smaller than 100nm) may play an important role in the etiology of several illnesses, including cardiovascular disease (CVD). However, this has been under-explored in population-level studies. Methods: Using Cox proportional hazard models we studied the association between long-term exposure to UFP (predicted via recently developed land use regression models) and incident cardiovascular disease in the Dutch arm of the European Prospective Investigation into Cancer cohort (EPIC-NL), which contains 33,831 Dutch residents. Hazard ratios (HR) for UFP were compared to HRs for more routinely monitored air pollutants, including PM$_{10}$, PM$_{coarse}$, PM$_{2.5}$, PM$_{2.5}$ absorbance, NO$_{x}$, and NO$_{2}$. Joint-pollutant effects were also evaluated in two-pollutant models. Results: Long-term exposure to UFP was associated with increased HRs for all incident cardiovascular disease (HR = 1.18 per 10,000 particles/cm$_{3}$, 95% CI: 1.03, 1.34), myocardial infarction (HR = 1.34, 95% CI: 1.00, 1.79), and heart failure (HR = 1.76, 95% CI: 1.17, 2.66). Positive associations were also observed for NO2 (HR for heart failure = 1.22, 95% CI: 1.01, 1.48 per 20 μg/m$^{3}$) and coarse PM (HR for all CVD = 1.21, 95% CI: 1.01, 1.45 per 10 μg/m$^{3}$). CVD was not positively associated with PM$_{2.5}$ (HR for all CVD = 0.95, 95% CI: 0.75, 1.28 per 5 μg/m$^{3}$). HRs for UFP and cerebrovascular diseases were positive, but not significant. In two-pollutant models (UFP + NO$_{2}$ and UFP + PM$_{coarse}$), positive associations tended to remain for UFP, while HRs for PM$_{coarse}$ and NO$_{2}$ generally attenuated towards the null. Conclusions: These findings strengthen the overall evidence that UFP exposure plays an important role in cardiovascular health and that risks of ambient air pollution, based on conventional air pollution metrics, may underestimate the true population risk.ment data and biological responses as viability (AlamarBlue assay), cytotoxicity (LDH release), and release of cytokines during long-term exposure are reported

Patient expression of emotions and neurologist responses in first multiple sclerosis consultations

Background: Anxiety and depression are common in people with multiple sclerosis (MS), but data on emotional communication during MS consultations are lacking. We assessed patient expressions of emotion and neurologist responses during first-ever MS consultations using the Verona Coding Definitions of Emotional Sequences (VR-CoDES). Methods: We applied VR-CoDES to recordings/transcripts of 88 outpatient consultations (10 neurologists, four MS Italian centers). Before consultation, patients completed the Hospital Anxiety and Depression Scale (HADS). Multilevel sequential analysis was performed on the number of cues/concerns expressed by patients, and the proportion of reduce space responses by neurologists. Results: Patients expressed 492 cues and 45 concerns (median 4 cues and 1 concern per consultation). The commonest cues were verbal hints of hidden worries (cue type b, 41%) and references to stressful life events (type d, 26%). Variables independently associated with number of cues/concerns were: anxiety (HADS-Anxiety score >8) (incidence risk ratio, IRR 1.08, 95% CI 1.06-1.09; p<0.001); patient age (IRR 0.98, 95% CI 0.98-0.99; p<0.001); neurologist age (IRR 0.94, 95% CI 0.92-0.96; p=0.03); and second opinion consultation (IRR 0.72, 95% CI 0.60-0.86; p=0.007). Neurologists reacted to patient emotions by reducing space (changing subject, taking no notice, giving medical advice) for 58% of cues and 76% of concerns. Anxiety was the only variable significantly associated with 'reduce space' responses (odds ratio 2.17, 95% CI 1.32-3.57; p=0.003). Conclusions: Patient emotional expressions varied widely, but VR-CoDES cues b and d were expressed most often. Patient anxiety was directly associated with emotional expressions; older age of patients and neurologists, and second opinion consultations were inversely associated with patient emotional expression. In over 50% of instances, neurologists responded to these expressions by reducing space, more so in anxious patients. These findings suggest that neurologists need to improve their skills in dealing with patient emotions

Transplacentally Acquired Maternal Antibody against Hepatitis B Surface Antigen in Infants and its Influence on the Response to Hepatitis B Vaccine

BACKGROUND: Passively acquired maternal antibodies in infants may inhibit active immune responses to vaccines. Whether maternal antibody against hepatitis B surface antigen (anti-HBs) in infants may influence the long-term immunogenicity of hepatitis B vaccine remains unknown. METHODOLOGY/PRINCIPAL FINDINGS: Totally 338 pairs of mothers and children were enrolled. All infants were routinely vaccinated against hepatitis B based on 0-, 1- and 6-month schedule. We characterized the transplacental transfer of maternal anti-HBs, and compared anti-HBs response in children of mothers with or without anti-HBs. In a prospective observation, all 63 anti-HBs positive mothers transferred anti-HBs to their infants; 84.1% of the infants had higher anti-HBs concentrations than their mothers. One and half years after vaccination with three doses of hepatitis B vaccine, the positive rate and geometric mean concentration (GMC) of anti-HBs in 32 infants with maternal anti-HBs were comparable with those in 32 infants without maternal antibody (90.6% vs 87.5%, P = 0.688, and 74.5 vs 73.5 mIU/ml, P = 0.742, respectively). In a retrospective analysis, five and half years after vaccination with three doses vaccine, the positive rates of anti-HBs in 88 children of mothers with anti-HBs ≥1000 mIU/ml, 94 children of mothers with anti-HBs 10-999 mIU/ml, and 61 children of mothers with anti-HBs <10 mIU/ml were 72.7%, 69.2%, and 63.9% (P = 0.521), respectively; anti-HBs GMC in these three groups were 38.9, 43.9, and 31.7 mIU/ml (P = 0.726), respectively. CONCLUSIONS/SIGNIFICANCE: The data demonstrate that maternal anti-HBs in infants, even at high concentrations, does not inhibit the long-term immunogenicity of hepatitis B vaccine. Thus, current hepatitis B vaccination schedule for infants will be still effective in the future when most infants are positive for maternal anti-HBs due to the massive vaccination against hepatitis B

RENAL REPLACEMENT THERAPY IN A POLYTRAUMATIZED PATIENT WITH HEMOPHILIA

Zatajenje bubrežne funkcije je rijetka pojava u bolesnika s nasljednim koagulacijskim poremećajima. Međutim, kada nastupi veoma brzo napreduje do završnog stadija bubrežne bolesti i potrebe za nadomještanjem bubrežne funkcije. Javljaju se problemi vezani uz odabir metode dijalize, periproceduralne nadoknade nedostatnog faktora koagulacije te heparinizacije dijaliznog sustava. Kod hemoiličara uvijek treba biti oprezan tijekom samog postupka dijalize zbog mogućeg razvoja komplikacija koje ih mogu vitalno ugroziti. Ovo je prikaz slučaja teško politraumatiziranog bolesnika koji boluje od hemofilije A. Tijekom intenzivnog liječenja razvio je akutno bubrežno zatajenje te tešku sepsu. S obzirom na okolnosti najbolja metoda izbora za njega je bila kontinuirana veno-venska hemodijaliza. Unato uspješno provedenoj dijalizi bez komplikacija bolesnik umire od protrahirane sepseRenal failure is a rare complication of hereditary coagulopathies. However, when it occurs, it rapidly progresses to a stage that requires replacement of renal function. Major problems include the choice of dialysis method, prevention of complications and supplementation of deicient factor. In hemodialysis, it is challenging to prevent system clotting and avoid bleeding. We present a case of polytraumatized male patient with hemophilia A, who developed compartment syndrome with acute renal failure. Continuous venovenous hemodialysis (CVVHD) improved his condition and he recovered his kidney function. However, over the next few days he developed severe sepsis with deterioration of renal function. CVVHDF (hemodiailtration) was restarted. Several large hematomas were found in the abdominal cavity and in the inguinal region, one of them inducing compartment syndrome with leg necrosis. The patient died from cardiorespiratory arrest

‘Fish out of water’: a cross-sectional study on the interaction between social and neighbourhood effects on weight management behaviours

Objective: To analyse whether an individual’s neighbourhood influences the uptake of weight management strategies and whether there is an interaction between individual socio-economic status and neighbourhood deprivation. Methodology: Data were collected from the Yorkshire Health Study (2010–2012) for 27 806 individuals on the use of the following weight management strategies: ‘slimming clubs’, ‘healthy eating’, ‘increasing exercise’ and ‘controlling portion size’. A multi-level logistic regression was fit to analyse the use of these strategies, controlling for age, sex, body mass index, education, neighbourhood deprivation and neighbourhood population turnover (a proxy for neighbourhood social capital). A cross-level interaction term was included for education and neighbourhood deprivation. Lower Super Output Area was used as the geographical scale for the areal unit of analysis. Results: Significant neighbourhood effects were observed for use of ‘slimming clubs’, ‘healthy eating’ and ‘increasing exercise’ as weight management strategies, independent of individual- and area-level covariates. A significant interaction between education and neighbourhood deprivation was observed across all strategies, suggesting that as an area becomes more deprived, individuals of the lowest education are more likely not to use any strategy compared with those of the highest education. Conclusions: Neighbourhoods modify/amplify individual disadvantage and social inequalities, with individuals of low education disproportionally affected by deprivation. It is important to include neighbourhood-based explanations in the development of community-based policy interventions to help tackle obesit

Employment Is Associated with the Health-Related Quality of Life of Morbidly Obese Persons

Published version of an article in the journal: Obesity Surgery. The original publication is available at Springerlink. http://dx.doi.org/10.1007/s11695-010-0289-6. Open AccessBackground&nbsp;&nbsp;We aimed to investigate whether employment status was associated with health-related quality of life (HRQoL) in a population of morbidly obese subjects. Methods&nbsp;&nbsp;A total of 143 treatment-seeking morbidly obese patients completed the Medical Outcome Study 36-Item Short-Form Health Survey (SF-36) and the Obesity and Weight-Loss Quality of Life (OWLQOL) questionnaires. The former (SF-36) is a generic measure of physical and mental health status and the latter (OWLQOL) an obesity-specific measure of emotional status. Multiple linear regression analyses included various measures of the HRQoL as dependent variables and employment status, education, marital status, gender, age, body mass index (BMI), type 2 diabetes, hypertension, obstructive sleep apnea, and treatment choice as independent variables. Results&nbsp;&nbsp;The patients (74% women, 56% employed) had a mean (SD, range) age of 44 (11, 19–66) years and a mean BMI of 44.3 (5.4) kg/m2. The employed patients reported significantly higher HRQoL scores within all eight subscales of SF-36, while the OWLQOL scores were comparable between the two groups. Multiple linear regression confirmed that employment was a strong independent predictor of HRQoL according to the SF-36. Based on part correlation coefficients, employment explained 16% of the variation in the physical and 9% in the mental component summaries of SF-36, while gender explained 22% of the variation in the OWLQOL scores. Conclusion&nbsp;&nbsp;Employment is associated with the physical and mental HRQoL of morbidly obese subjects, but is not associated with the emotional aspects of quality of life