Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population

<p>Abstract</p> <p>Background</p> <p>A genomic region on chromosome 9p21 has been identified as closely associated with increased susceptibility to coronary artery disease (CAD) and to type 2 diabetes (T2D) although the evidence suggests that the genetic variants within chromosome 9p21 that contribute to CAD are different from those that contribute to T2D.</p> <p>We carried out an association case-control study in an Italian population to test the association between two single nucleotide polymorphisms (SNPs) on the 9p21 locus, rs2891168 and rs10811661, previously reported by the PROCARDIS study, and respectively myocardial infarction (MI) and T2D. Our aim was to confirm the previous findings on a larger sample and to verify the independence of their susceptibility effects: rs2891168 associated with MI but not with T2D and rs10811661 associated with T2D but not with MI.</p> <p>Methods</p> <p>Genomic DNA samples of 2407 Italians with T2D (602 patients), who had had a recent MI (600), or had both diseases (600) and healthy controls (605) were genotyped for the two SNPs. The genotypes were determined by allelic discrimination using a fluorescent-based TaqMan assay.</p> <p>Results</p> <p>SNP rs2891168 was associated with MI, but not with T2D and the G-allele odds ratio (OR) was 1.20 (95% CI 1.02-1.41); SNP rs10811661 was associated with T2D, but not with MI, and the T-allele OR was 1.27 (95% CI 1.04-1.55). ORs estimates from the present study and the PROCARDIS study were pooled and confirmed the previous findings, with greater precision.</p> <p>Conclusions</p> <p>Our replication study showed that rs2891168 and rs10811661 are independently associated respectively with MI and T2D in an Italian population. Pooling our results with those reported by the PROCARDIS group, we also obtained a significant result of association with diabetes for rs10811661 in the European population.</p

Reach on sound: A key to object permanence in visually impaired children.

BACKGROUND: The capacity to reach an object presented through sound clue indicates, in the blind child, the acquisition of object permanence and gives information over his/her cognitive development. AIM: To assess cognitive development in congenitally blind children with or without multiple disabilities. STUDY DESIGN: Cohort study. SUBJECTS: Thirty-seven congenitally blind subjects (17 with associated multiple disabilities, 20 mainly blind) were enrolled. OUTCOME MEASURES: We used Bigelow's protocol to evaluate "reach on sound" capacity over time (at 6, 12, 18, 24, and 36 months), and a battery of clinical, neurophysiological and cognitive instruments to assess clinical features. RESULTS: Tasks n.1 to 5 were acquired by most of the mainly blind children by 12 months of age. Task 6 coincided with a drop in performance, and the acquisition of the subsequent tasks showed a less agehomogeneous pattern. In blind children with multiple disabilities, task acquisition rates were lower, with the curves dipping in relation to the more complex tasks. CONCLUSIONS: The mainly blind subjects managed to overcome Fraiberg's "conceptual problem"--i.e., they acquired the ability to attribute an external object with identity and substance even when it manifested its presence through sound only--and thus developed the ability to reach an object presented through sound. Instead, most of the blind children with multiple disabilities presented poor performances on the "reach on sound" protocol and were unable, before 36 months of age, to develop the strategies needed to resolve Fraiberg's "conceptual problem

Reach on sound: a key to object permanence in visually impaired children.

BACKGROUND: The capacity to reach an object presented through sound clue indicates, in the blind child, the acquisition of object permanence and gives information over his/her cognitive development. AIM: To assess cognitive development in congenitally blind children with or without multiple disabilities. STUDY DESIGN: Cohort study. SUBJECTS: Thirty-seven congenitally blind subjects (17 with associated multiple disabilities, 20 mainly blind) were enrolled. OUTCOME MEASURES: We used Bigelow's protocol to evaluate "reach on sound" capacity over time (at 6, 12, 18, 24, and 36 months), and a battery of clinical, neurophysiological and cognitive instruments to assess clinical features. RESULTS: Tasks n.1 to 5 were acquired by most of the mainly blind children by 12 months of age. Task 6 coincided with a drop in performance, and the acquisition of the subsequent tasks showed a less agehomogeneous pattern. In blind children with multiple disabilities, task acquisition rates were lower, with the curves dipping in relation to the more complex tasks. CONCLUSIONS: The mainly blind subjects managed to overcome Fraiberg's "conceptual problem"--i.e., they acquired the ability to attribute an external object with identity and substance even when it manifested its presence through sound only--and thus developed the ability to reach an object presented through sound. Instead, most of the blind children with multiple disabilities presented poor performances on the "reach on sound" protocol and were unable, before 36 months of age, to develop the strategies needed to resolve Fraiberg's "conceptual problem

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects.

AIM Cerebral visual impairment (CVI) is a disorder caused by damage to the retrogeniculate visual pathways. Cerebral palsy (CP) and CVI share a common origin: 60 to 70% of children with CP also have CVI.We set out to describe visual dysfunction in children with CP. A further aim was to establish whether different types of CP are associated with different patterns of visual involvement. METHODS A total of 129 patients (54 females, 75males;mean age 4y 6mo, SD 3y 5mo; range 3mo???15y) with CP (51 with diplegia, 61 with tetraplegia, and 17 with hemiplegia; 62 [48%] of participants were able to walk) and CVI enrolled at the Centre of Child Neuro-ophthalmology (at the Department of Child Neurology and Psychiatry, IRCCS ???C. Mondino Institute of Neurology???, University of Pavia) underwent an assessment protocol including neurological examination, developmental and ??? or cognitive assessment, neuro-ophthalmological evaluation including ophthalmological assessment, evaluation of visual acuity, contrast sensitivity, optokinetic nystagmus, visual field and stereopsis, and neuroradiological investigations. RESULTS Visual dysfunction in diplegia was characterizedmainly by refractive errors (75% of patients), strabismus (90%), abnormal saccadic movements (86%), and reduced visual acuity (82%). The participants with hemiplegia showed strabismus (71%) and refractive errors (88%); oculomotor involvement was less frequent (59%). This group had the largest percentage of patients with altered visual field (64%). Children with tetraplegia showed a severe neuroophthalmological profile, characterized by ocular abnormalities (98%), oculomotor dysfunction (100%), and reduced visual acuity (98%). INTERPRETATION Neuro-ophthalmological disorders are one of themain symptoms in CP. Each clinical type of CP is associated with a distinct neuro-ophthalmological profile. Early and careful neuro-ophthalmological assessment of children with CP is essential for an accurate diagnosis and for personalized rehabilitation