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UMC
Utrecht, Netherlands

Lammers T.H.M.,DNA Diagnostisch Laboratorium | Van Haelst M.M.,UMC | Alders M.,DNA Diagnostisch Laboratorium | Cobben J.M.,Kindergeneeskunde en Klinische Genetica
Tijdschrift voor Kindergeneeskunde | Year: 2012

Aim: To describe the clinical characteristics of all Dutch children with Silver-Russell Syndrome (SRS). This cohort is part of a larger collaborative international study, analysing the clinical differences between children with SRS due to a different genetic cause. Methods: Thirty-eight Dutch children were identified with a clinical and molecular proven diagnosis SRS. Twenty-three children with SRS were included and clinically assessed. The grade of methylation (MI) in patients with hypo-Hi9 was compared with the severity of (specific features) of SRS. Results: Of the 23 included children, 20 have a hypomethylation of the Hi9-region and three have mUPD7. No significant correlation was identified between the clinical outcome of the two genetic subgroups of Dutch SRS-children, whereas the international study did find significant but not impressive differences. As a group, SRS is characterised by severe intrauterine and postnatal growth retardation, limb and body asymmetry, a typical facial appearance (triangular face, micrognathia, relative macrocephaly). No correlation is found between the MI and clinical outcome. Interestingly, in the Dutch cohort, pregnancies of three out of 20 SRS-children with hypo-Hia were the result of assisted reproductive technologies (ART), two after IVF and one after ICSI. Conclusion: SRS is a clinically recognizable syndrome. This article illustrates the clinical outcome of Dutch SRS-children. A high proportion of the pregnancies of the SRS-children were the result of ART, which suggests an association between ART and methylation disorders. Source


Veraart J.K.E.,UMC | Braam A.W.,Crisisdienst Utrecht
Tijdschrift voor Psychiatrie | Year: 2015

BACKGROUND: The type of the agent used for auto-intoxication may increase or decrease the degree of suicidal intent. AIM: To find out whether the type of agent used for auto-intoxication is linked to the degree of suicidal intent at the moment when a patient is given a psychiatric assessment in a general hospital. METHOD: We studied the files of 211 patients who had been assessed following auto-intoxication. The files provided us with information about the type of agent used, the suicidal intent of the patient at the time and about other recent, relevant risk factors. RESULTS: At the time of the assessment, benzodiazepines were the only auto-intoxication agents used which seemed to predict suicidal intent. CONCLUSION: Although the results need to be verified in further studies, it can be concluded that auto-intoxication induced only by benzodiazepines can be seen as a serious expression of an individual's wish to die. Source


De Kleijn P.,UMC | Berntorp E.,Skane University Hospital | Hilliard P.,Hemophilia Program | Pasta G.,Haemophilia Center Angelo Bianchi Bonomi | And 3 more authors.
Haemophilia | Year: 2012

The aim of this article is to provide an up-to-date overview on paediatric haemophilia care in the world, with emphasis on medical treatment, rehabilitation, and orthopaedic surgery. The reason these specific professions caregivers are included is that over 90% of bleeding episodes in people with haemophilia (PWH) occur within the musculoskeletal system; and of these 80% of bleedings occur in joints. © 2012 Blackwell Publishing Ltd. Source


Ye J.,Peking University | Zhang Y.,UMC
International Journal of Clinical and Experimental Medicine | Year: 2011

To investigate whether curcumin is protective against intracellular amyloid β (Aβ) toxicity, different concentrations of curcumin were applied to with intracellular Aβ in rat primary hippocampal neurons in culture. We find that at low dosages, curcumin effectively inhibits intracellular Aβ toxicity. Reactive oxidative species (ROS) is involved in mediating intracellular Aβ toxicity and possibly curcumin protection. Our results indicate that oxidative stress may mediate cell death induced by intracellular Aβ in neurons. Source


Schure R.-M.,National Institute for Public Health | Hendrikx L.H.,University of Amsterdam | De Rond L.G.H.,National Institute for Public Health | Ozturk K.,National Institute for Public Health | And 3 more authors.
Clinical and Vaccine Immunology | Year: 2012

Immunization with acellular pertussis vaccine (aP) induces higher specific antibody levels and fewer adverse reactions than does immunization with the whole-cell vaccine (wP). However, antibody levels in infants induced by both types of pertussis vaccines wane already after 1 year. Therefore, long-term T-cell responses upon vaccination might play a role in protection against pertussis. In a cross-sectional study (ISRCTN65428640), we investigated T-helper (Th) cell immune responses in wP- or aP-vaccinated children before and after an aP low-dose or high-dose preschool booster at 4 years of age in The Netherlands. T cells were stimulated with pertussis vaccine antigens. The numbers of gamma interferon-producing cells and Th1, Th2, Th17, and interleukin-10 (IL-10) cytokine concentrations were determined. In addition, pertussis-specific IgE levels were measured in plasma. Children being vaccinated with aP vaccinations at 2, 3, 4, and 11 months of age still showed higher pertussis-specific T-cell responses at 4 years of age than did wP-vaccinated children. These T-cell responses failed to show a typical increase in cytokine production after a fifth aP vaccination but remained high after a low-dose booster and seemed to decline even after a high-dose booster. Importantly, elevated IgE levels were induced after this booster vaccination. In contrast, wP-vaccinated children had only low prebooster T-cell responses, and these children showed a clear postbooster T-cell memory response even after a low-dose booster vaccine. Four high-dose aP vaccinations in infancy induce high T-cell responses still present even 3 years after vaccination and enhanced IgE responses after preschool booster vaccination. Therefore, studies of changes in vaccine dosage, timing of pertussis (booster) vaccinations, and the possible association with local side effects are necessary. Copyright © 2012, American Society for Microbiology. All Rights Reserved. Source

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