Sectorstudie toezicht hoger onderwijs - 64

Educatio

Neonatal screening for congenital hypothyroidism in the Netherlands: Cognitive and motor outcome at 10 years of age

Contains fulltext : 35300.pdf (publisher's version ) (Open Access)CONTEXT: Patients with thyroidal congenital hypothyroidism (CH-T) born in The Netherlands in 1981-1982 showed persistent intellectual and motor deficits during childhood and adulthood, despite initiation of T(4) supplementation at a median age of 28 d after birth. OBJECTIVE: The present study examined whether advancement of treatment initiation to 20 d had resulted in improved cognitive and motor outcome. DESIGN/SETTING/PATIENTS: In 82 Dutch CH-T patients, born in 1992 to 1993 and treated at a median age of 20 d (mean, 22 d; range, 2-73 d), cognitive and motor outcome was assessed (mean age, 10.5 yr; range, 9.6-11.4 yr). Severity of CH-T was classified according to pretreatment free T(4) concentration. MAIN OUTCOME MEASURE: Cognitive and motor outcome of the 1992-1993 cohort in comparison to the 1981 to 1982 cohort was the main outcome measure. RESULTS: Patients with severe CH-T had lower full-scale (93.7), verbal (94.9), and performance (93.9) IQ scores than the normative population (P < 0.05), whereas IQ scores of patients with moderate and mild CH-T were comparable to those of the normative population. In all three severity subgroups, significant motor problems were observed, most pronounced in the severe CH-T group. No correlations were found between starting day of treatment and IQ or motor outcome. CONCLUSIONS: Essentially, findings from the 1992-1993 cohort were similar to those of the 1981-1982 cohort. Apparently, advancing initiation of T(4) supplementation from 28 to 20 d after birth did not result in improved cognitive or motor outcome in CH-T patients

Advies Open Bestel: op zoek naar de juiste dynamiek

De Commissie Experimenten Open Bestel hoger onderwijs bracht onlangs een advies uit aan minister Plasterk rondom vragen als: is er voldoende ruimte voor nieuwe toetreders, is het zinvol die ruimte te vergroten en kan dat dan bijdragen aan meer variatie in leerroutes en betere toegang voor niet-traditionele doelgroepen? De belangrijkste punten uit het advies op een rij

Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects

Wild-type and mutant thyroid peroxidase (TPO) was expressed in a Semliki Forest Virus (SFV)-based transient expression system in Chinese hamster ovary-K1 cells. Twenty four hours after transfection proteins immunoreactive with TPO antibodies could be detected on a Western blot. Peroxidase activity was assayed using both the guaiacol and the I3- assay. Addition of hematin was necessary to obtain enzymatic active TPO. Thyroid peroxidase complementary DNA constructs containing mutations originally found in patients with hereditary congenital hypothyroidism caused by total iodide organification defects were analyzed using these techniques. In all cases TPO was expressed as shown by Western blotting and immunostaining. Enzymatic activity (measured by guaiacol and iodide oxidation assay) was below the detection level in four out of five mutants. The only mutant yielding TPO with enzymatic activity was G 1858 A (Gly 590 Ser). However, the mutation could affect splicing of TPO messenger RNA, leading to inactive TPO, because it is located at the exon 10/intron 10 borde

Structure and characterization of a 50 bp repeat in intron 10 of the human thyroid peroxidase gene

We have previously identified an EcoRI polymorphism detected by a human thyroid peroxidase (hTPO) cDNA probe, with alleles varying in size from 3.0 to 4.1 kb. For further characterization of this polymorphism, we have cloned the genomic region containing this polymorphism. Sequence analysis of a 3.2 kb EcoRI fragment containing the polymorphism revealed nine copies of a 50 bp direct repeat located 1.9 kb downstream of exon 10. In 50 unrelated Caucasian individuals, the number of repeats was determined and varied from 9 to 31, with an average of 21. Since exon 10 has been shown to be alternatively spliced in hTPO mRNA, we have also tested whether the number of 50 bp repeats affects alternative splicing of exon 10. We find no correlation between the number of repeats in intron 10 and the ratio of alternatively spliced hTPO-1 and hTPO-2 mRNA in six human thyroid gland

Eco RI RFLP in the human thyroid peroxidase (TPO) gene on chromosome 2.

The authors describe the source and characteristics of a new probe (pTP02/0.7EP).Journal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe