Relative Carnitine Deficiency in Autism

A random retrospective chart review was conducted to document serum carnitine levels on 100 children with autism. Concurrently drawn serum pyruvate, lactate, ammonia, and alanine levels were also available in many of these children. Values of free and total carnitine (p < 0.001), and pyruvate (p=0.006) were significantly reduced while ammonia and alanine levels were considerably elevated (p < 0.001) in our autistic subjects. The relative carnitine deficiency in these patients, accompanied by slight elevations in lactate and significant elevations in alanine and ammonia levels, is suggestive of mild mitochondrial dysfunction. It is hypothesized that a mitochondrial defect may be the origin of the carnitine deficiency in these autistic children.     

Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe. The HIFMECH Study

Elevated plasma IL-6 levels have been implicated in the pathogenesis of coronary heart disease. We have investigated the association of two polymorphisms in the promoter of IL-6 (-572G>C and -174G>C) with levels of inflammatory markers and risk of myocardial infarction (MI) in a European study of MI survivors and age-matched controls from two high-risk centres in the North of Europe, and two low risk centres in the South. IL-6 and CRP levels were similar in controls in both regions, but were higher in cases. For the -174G>C polymorphism the rare -174C allele showed a regional difference in allele frequency, being more common in the North European group (0.43 vs 0.28; p < 0.0005), where -174C allele carriers showed an apparent reduced risk of MI compared to -174GG homozygotes (OR 0.53, 95%CI 0.32, 0.86). No such effect was observed in the South or with the -572G>C in either group. Neither genotype was associated with a significant effect on plasma IL-6 levels in either cases or controls. Furthermore, no regional difference was observed in the frequency of the -572G>C SNP, suggesting that these polymorphisms are unlikely to be contributing to the observed increased risk of cardiovascular disease in Northern Europe.     

Thalamic reductions in children with chromosome 22q11.2 deletion syndrome

Children with chromosome 22q11.2 deletion syndrome (22q) suffer from physical and behavioral dysfunctions, including neuroanatomical anomalies, visuo-spatial processing deficits, and increased risk for psychopathology. Reduced total brain volume, parietal lobe volume, and cerebellar volumes, enlarged ventricles, and increased basal ganglia volumes have been reported. Since previous literature has related the pulvinar nucleus of the thalamus to visuo-spatial processing, we compared the thalamic volume in children with 22q to typically developing controls. Children with 22q showed a significant reduction of the thalamus compared with normally developing children, specifically in the posterior portion of the thalamus, including the pulvinar nucleus. These results provide the first evidence for a potential relationship between posterior thalamic reductions and the characteristic visuo-spatial deficits demonstrated in this group.     

Telangiectasia macularis eruptiva perstans

A 45-year-old man presented with lesions clinically and histologically consistent with telangiectasis macularis eruptiva perstans (TMEP). TMEP is a rare form of mastocytosis, which is localized to the skin, although systemic involvement has been reported. A mutation in the c-kit proto-oncogene is thought to be involved in mast cell hyperplasia in some patients with mastocytosis. Treatment depends on the presence of systemic involvement or clinical symptoms. In case reports, therapeutic benefit has been reported in TMEP with the use of the 585-flashlamp pumped dye lasers and of electron beam radiation.     

Seasonal variation in mood in African American college students in the Washington, D.C., metropolitan area

OBJECTIVE: The authors attempted to estimate the occurrence, frequency, and pattern (winter versus summer) of seasonal affective disorder in African American college students. They hypothesized that winter seasonal affective disorder would be more prevalent than summer seasonal affective disorder. METHOD: Undergraduate and graduate college students who identified themselves as African Americans living in the Washington, D.C., metropolitan area were invited to participate in the study. The Seasonal Pattern Assessment Questionnaire was used to calculate a global seasonality score and to estimate the frequency of seasonal affective disorder and subsyndromal seasonal affective disorder. The frequency of the summer versus winter pattern of seasonality of seasonal affective disorder was compared by using multinomial probability distribution tests. The effects of gender and the awareness of seasonal affective disorder were evaluated with a two-way analysis of variance. RESULTS: Of 646 students who were invited to participate, 597 returned the questionnaires, and 537 (83.1%) fully completed them. Winter seasonal affective disorder was significantly more prevalent than summer seasonal affective disorder. The mean global seasonality score was 8.3 (SD=5.3). The majority of the subjects (80%) were not aware of the existence of seasonal affective disorder. CONCLUSIONS: The authors found that the frequency, magnitude, and pattern of seasonality of mood in African American students were similar to those previously reported in the general population at similar latitude, but that awareness of the existence of seasonal affective disorder, a condition with safe and effective treatment options, was lower.     

Progressive spastic paraplegia as a presentation of oculodentodigital syndrome

Oculodentodigital syndrome (ODD) is a rare congenital disorder which associates eyes and facial abnormalities, defects in teeth enamel and type III syndactyly. The causal genetic defect in this syndrome is still unknown. Some patients with ODD syndrome also manifest spastic paraparesis. In most cases, inheritance is autosomal dominant with variable clinical expression. Herein, we report on a patient with ODD syndrome, who was referred for evaluation of spastic paraplegia. Our observations show that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia.     

Comparative study between deep sclerectomy with and without collagen implant: long term follow up

AIM: To identify the value of using collagen implant in deep sclerectomy. METHODS: A prospective randomised trial of 104 eyes (104 patients) with medically uncontrolled primary and secondary open angle glaucoma. All patients had deep sclerectomy (DS), half of them with and the other half without a collagen implant (CI) sutured in the scleral bed. The main outcome measures were intraocular pressure (IOP), visual acuity, number of treatments preoperative and postoperative, and Nd:YAG goniopunctures. RESULTS: Mean follow up period was 44.5 (SD 21) months for the DS group and 43.9 (SD 14) months for the deep sclerectomy with a collagen implant (DSCI) group. The mean preoperative IOP was 23.3 (SD 7.2) mm Hg for the DS group and 25.6 (SD 4.9) mm Hg for the DSCI group. The mean IOP at the first postoperative day was 6.1 (SD 4.21) mm Hg for the DS group and 5.1 (SD 3.3) mm Hg for the DSCI group. At 48 months IOP was reduced by 40% (14 versus 23.3 mm Hg) for the DS group and by 50% (12.7 versus 25.6 mm Hg) for the DSCI group. Complete success rate, defined as IOP lower than 21 mm Hg without medication, was 34.6% (18/52 patients) at 48 months for the DS group, and 63.4% (33/52 patients) for the DSCI group. Qualified success rate; patients who achieved IOP below 21 mm Hg with or without medication, was 78.8% (41/52 patients) at 48 months and 94% (49/52 patients) for the DSCI group. The mean number of medications was reduced from 2.1 (SD 0.8) to 1.0 (SD 1) after DS, and was reduced from 2.2 (SD 0.7) to 0.4 (SD 0.6) in the DSCI group (p = 0.001) CONCLUSION: The use of a collagen implant in DS enhances the success rates and lowers the need for postoperative medication.     

Comparison of 6-month results of implantation of the 1CU accommodative intraocular lens with conventional intraocular lenses

OBJECTIVE: To evaluate the clinical results of implantation of the new 1CU accommodative intraocular lens (IOL) in cataract patients and to compare results with those of conventional IOLs. DESIGN: Nonrandomized comparative trial. PARTICIPANTS: Twenty eyes of 20 patients (mean age = 65.8+/-13.3 years) in the 1CU group and 20 eyes of 20 patients (mean age = 67.4+/-11.6 years) in the control group. METHODS: All patients underwent phacoemulsification and IOL implantation. The 1CU accommodative lens was used in 20 eyes, and conventional IOLs (polymethyl methacrylate, hydrophilic or hydrophobic acrylate) were used in the control group. Patients were observed prospectively, and 6-month data were analyzed. MAIN OUTCOME MEASURES: Accommodative ranges determined by 3 different methods (near point, defocusing, and retinoscopy). Secondary outcome measures were (1) increase of anterior chamber depth after topical application of 1% cyclopentolate eyedrops and (2) distance-corrected near visual acuity with Birkh?user reading charts at 35 cm. RESULTS: We observed a higher accommodative range with all 3 methods (mean = 1.83+/-0.49 vs. 1.16+/-0.27 diopters [D] [near point], 1.85+/-0.43 vs. 0.64+/-0.21 D [defocusing], and 0.98+/-0.55 vs. 0.17+/-0.22 D [retinoscopy]), a larger increase of anterior chamber depth after cyclopentolate eyedrops (mean = 0.42+/-0.18 vs. 0.11+/-0.06 mm), and better distance-corrected near visual acuity (median = 0.4 vs. 0.2) in the 1CU group relative to the control group. All differences between the 2 groups were statistically highly significant (P<0.001). CONCLUSIONS: In the present study, the 1CU accommodative IOL showed increased accommodative range and better near visual acuity than a control group with conventional IOLs. Further research is necessary to confirm these results in masked, randomized, prospective studies and to confirm further the accommodative power of this group of new IOLs.