Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans

Background: Common genetic variation at genes that are imprinted and exclusively maternally expressed could explain the apparent maternal-specific inheritance of low birthweight reported in large family pedigrees. We identified ten single nucleotide polymorphisms ( SNPs) in H19, and we genotyped three of these SNPs in families from the contemporary ALSPAC UK birth cohort ( 1,696 children, 822 mothers and 661 fathers) in order to explore associations with size at birth and cord blood IGF- II levels. Results: Both offspring's and mother's H19 2992C> T SNP genotypes showed associations with offspring birthweight ( P = 0.03 to P = 0.003) and mother's genotype was also associated with cord blood IGF-II levels ( P = 0.0003 to P = 0.0001). The offspring genotype association with birthweight was independent of mother's genotype ( P = 0.01 to P = 0.007). However, mother's untransmitted H19 2992T allele was also associated with larger birthweight ( P = 0.04) and higher cord blood IGF-II levels ( P = 0.002), suggesting a direct effect of mother's genotype on placental IGF-II expression and fetal growth. The association between mother's untransmitted allele and cord blood IGF-II levels was more apparent in offspring of first pregnancies than subsequent pregnancies ( P-interaction = 0.03). Study of the independent Cambridge birth cohort with available DNA in mothers (N = 646) provided additional support for mother's H19 2992 genotype associations with birthweight ( P = 0.04) and with mother's glucose levels ( P = 0.01) in first pregnancies. Conclusion: The common H19 2992T allele, in the mother or offspring or both, may confer reduced fetal growth restraint, as indicated by associations with larger offspring birth size, higher cord blood IGF-II levels, and lower compensatory early postnatal catch-up weight gain, that are more evident among mother's smaller first-born infants

Argumentative writing behavior of graduate EFL learners

This is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.This study analyzed the argumentative writing behavior of Iranian graduate learners of English as Foreign Language in their English essays. Further, the correlations between the use of argument elements and overall writing quality as well as soundness of produced arguments were investigated. To this end, 150 essays were analyzed. The sample essays were found to be predominantly deductive in terms of rhetorical pattern. Moreover, they mainly utilized ‘data’ and ‘claim’ most frequently with secondary elements of argument (i.e., counterargument claim, counterargument data, rebuttal claim, and rebuttal data) as the least produced elements. Overall writing quality co-varied significantly positively with the uses of claims, data, counterargument claims, counterargument data, rebuttal claims, and rebuttal data. Essays rated high in terms of overall writing quality were further rated for soundness and relevance of the arguments. The results demonstrate that even for advanced language learners good surface structure cannot necessarily guarantee well thought-out logical structure. The pedagogical implications for writing instruction and research are discussed

Genetic variation in the type 2 insulin-like growth factor receptor gene and disparity in childhood height.

OBJECTIVE: The type 2 insulin-like growth factor receptor (IGF2R) is thought to regulate insulin-like growth factor-II (IGF-II) bioavailability by degrading it in the lysosomes after uptake. We hypothesised that polymorphisms in the IGF2R gene could alter size at birth and childhood growth. DESIGN AND METHODS: The hypothesis was tested in a normal birth cohort (Avon Longitudinal Study of Parents and Children) by genotyping the IGF2R gene gly1619arg polymorphism, which causes a non-conservative amino acid change in the IGF-II binding region, using PCR and restriction fragment length polymorphism analysis. RESULTS: The IGF2R gly1619arg genotype was not associated with any measure of size at birth, but A/A homozygotes grew more slowly, as determined by their change in height standard deviation scores (SDS) over the first three years (-0.70 (0.72); n = 12), than G/G homozygotes (0.00 (1.09); n = 561) (p = 0.03). They remained shorter during childhood and by the age of 7 years respective height SDS were: 0.73 (1.02) (n = 12) and 0.01 (0.99) (n = 634) (p = 0.01). These height differences persisted after adjusting for parental heights and gender. There were no detectable differences in weights at 7 years. CONCLUSION: Allelic variation in the gly1619arg SNP of the IGF2R gene is associated with disparity in childhood stature which could reflect altered binding of IGF-II to its receptor

Phacoemulsification with intravitreal triamcinolone in patients with cataract and coexisting diabetic macular oedema: A 6-month prospective pilot study

Aims: To assess the safety and efficacy of phacoemulsification with intravitreal triamcinolone (ivTA) injection in diabetics with cataract and clinically significant macular oedema (CSMO). Methods: A total of 19 eyes of 15 consecutive diabetic patients with cataract and CSMO were prospectively recruited. Patients underwent phacoemulsification and intraocular lens implantation with 4 mg ivTA injection at completion of surgery. Patients were followed up on day 1, then weekly for 1 month, and thereafter monthly until 6 months postoperatively. Best corrected visual acuity (BCVA), central macular thickness (CMT) measured by optical coherence tomography, and adverse events were recorded. Results: In total, 17 eyes completed 6 months of follow-up. In all, 58.8% showed improvement in BCVA of ≥2 lines, with statistically significant improvement in mean Snellen BCVA of 2.4 lines at 6 months. The peak BCVA was achieved at 4 months. The mean CMT decreased from a baseline of 449 pm to a minimum of 321 ± 148 μm (28.5% reduction) achieved at 2 months, with statistically significant reduction at all postoperative time intervals until 6 months. Of 17 eyes, 4 (23.5%) developed transiently elevated intraocular pressure that normalised by 6 months in all but one patient. No injection- or surgery-related complications were encountered. Conclusions: Phacoemulsification with concurrent 4 mg ivTA injection appears to be a safe option for managing diabetics with cataract and CSMO. However, large-scaled randomised controlled trials are necessary for delineating the relative contributions of cataract removal and CMT reduction to visual improvement. Moreover, the transient effect on CMT may warrant further studies to determine optimal timing and dosage of further ivTA injections. © 2005 Nature Publishing Group All rights reserved.link_to_subscribed_fulltex

Ocular-hypertensive response and corneal endothelial changes after intravitreal triamcinolone injections in Chinese subjects: A 6-month follow-up study

Purpose: To assess the intraocular pressure (IOP) and corneal endothelial changes, over a 6-month period, after a single injection of intravitreal triamcinolone (ivTA) in Chinese patients. Methods: A total of 43 eyes of 43 consecutive Chinese patients with various macular diseases received a single bolus injection of 4 mg ivTA, of which, 14 eyes with significant cataracts underwent simultaneous phacoemulsification and primary intraocular lens implantation. IOP was measured preoperatively and weekly in the first month, and then monthly until 6 months postinjection. Specular microscopy was performed on 24 of the 29 eyes without simultaneous cataract surgery, preoperatively and at months 1, 3, and 6. Results: All patients completed 6 months of follow-up. Nine out of 43 (20.9%) eyes had IOP >21 mmHg. Their mean maximum IOP was 29.2 mmHg (range 23.0-37.0), necessitating the use of 2.0 types of topical antiglaucomatous medications on average. The IOP elevation occurred at a mean of 5.2 weeks (range 1-17) postinjection. All IOPs returned to normal, without additional antiglaucomatous medications, by 6 months. There was no statistically significant difference (paired t-test, P < 0.05) in the corneal endothelial cell count and other specular microscopy parameters up to 6 months after the injections. Conclusion: A single 4 mg bolus injection of ivTA appeared to have no harmful effects on the corneal endothelium. IvTA caused transient IOP elevations in 20.9% of Chinese patients, similar to that observed in Caucasians. As the IOP rise can occur as early as 1 week after the injection, early monitoring will help its early detection and prevent optic nerve damage. © 2005 Nature Publishing Group All rights reserved.link_to_subscribed_fulltex