A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo balanced translocation: t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint at 22q11.21 was within a highly variable region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA.     

Comparison of technetium-99m IgG with technetium-99m red blood cells labeling in cardiac blood-pool scintigraphy: a preliminary study

This first clinical prospective study was conducted to use of technetium-99m immunoglobulin G ((99m)Tc-IgG) as compared with autologous (99m)Tc-red blood cells (RBC) in gated blood pool ventriculography. We studied 12 patients who referred to us for a possible diagnosis of liver hemangioma or infection. Six patients underwent gated planar blood pool (GPBP) acquisition using (99m)Tc-RBC and 6 GPBP acquisition using (99m)Tc-IgG. The use of (99m)Tc-IgG in cardiac blood pool studies provided comparable images to (99m)Tc-RBC. In conclusion, (99m)Tc-IgG, which is readily available and needs only a single injection, may be an attractive alternative to (99m)Tc-RBC for the estimation of various cardiac function parameters like left ventricular function.     

Interatrial shunt: diagnosis of patent foramen ovale and atrial septal defect with 64-row coronary computed tomography angiography

Purpose  

The aim of this study was to investigate the frequency with which interatrial shunts are found during routine coronary computed tomography (CT) angiography and to describe imaging characterizations of patent foramen ovale (PFO), atrial septal defect (ASD), and atrial septal aneurysm (ASA).     

Treatment of Cystoid Macular Edema Due to Acute Posterior Multifocal Placoid Pigment Epitheliopathy

Purpose: To report a case of unilateral late-presenting acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with CME evaluated before and after administration of IVTA. Method: A 29-year-old male diagnosed as APMPPE with CME was treated with IVTA. Results: Fundus examination revealed CME and sequelae APMPPE lesions without involvement of posterior pole. FA and OCT findings were consistent with CME. After IVTA (4 mg/0.1 mL) administration; BCVA increased from 20/28 to 20/20, mean retinal thickness decreased in OCT, and mean sensitivity in microperimetry increased from 15.7 to 17.2 dB. Conclusion: In this case report, IVTA improved macular anatomy, visual acuity, and macular sensitivity.     

Posterior subtenon and intravitreal triamcinolone acetonide for diabetic macular edema

AIM: To evaluate retroprospectively the clinical consequences of posterior subtenon (PSTT) and intravitreal (IVT) triamcinolone acetonide injections in diabetic macular edema (DME) refractory to conventional grid laser photocoagulation. MATERIAL AND METHODS: Eyes with clinically significant DME refractory to grid laser photocoagulation were assessed for the inclusion in the study. Complete ophthalmic examination with fluorescein angiography (FA) and optic coherence tomography (OCT) were performed before and in the 1st, 3rd, and 6th months of the treatment. The IVT group received 4 mg/0.1 ml and the PSTT group received 20 mg/0.5 ml triamcinolone injection. PSTT but not IVT injection was repeated in case of recurrent edema. IVT was also applied to the eyes with resistant macular edema after PSTT injection (secondary IVT group). RESULTS: There were 85 eyes of 60 patients in the PSTT group and 41 eyes of 35 patients in IVT group. There were 24 eyes in the primary IVT group and 17 eyes in the secondary IVT group. Mean follow-up time was 4.1+/-1.9 and 4.6+/-2.2 months after PSTT and IVT injections, respectively. In the PSTT group, the mean visual acuity increased from 0.19+/-0.18 to 0.22+/-0.19 and the mean central foveal thickness decreased from 413.1+/-117.5 to 312.1+/-103.1 microm (P=.001 and P=.0001, respectively) during the first 3 months. In the IVT group, the mean visual acuity and central foveal thickness were found to be 0.15+/-0.14 and 494.5+/-141.3 microm before the treatment and 0.20+/-0.16 and 288.4+/-88.5 microm 3 months after the treatment, respectively (P=.008 and P=.001, respectively). The effect in central foveal thickness was significantly greater in the primary IVT group than in the PSTT group (P=.002). There was no significant difference with respect to the decrease in the central foveal thickness and increase in visual acuity between the primary and secondary IVT injections (Mann-Whitney U test, P>.05). The steroid effect started to diminish after the 3rd month. The recurrence of macular edema was seen in 7.1% in the PSTT group starting after 3 months. Twenty percent of the eyes in the PSTT group did not respond to the treatment at all and had secondary IVT injections. Significant intraocular pressure increase was found in 8.2% of the PSTT group and in 24.3% of IVT injection. There was one case of pseudomonas endophthalmitis in the IVT group. CONCLUSION: This study is the first study comparing the clinical outcomes of PSTT and IVT injections for the treatment of DME. Both PSTT and IVT injections caused a significant increase in visual acuity and a decrease in central foveal thickness, especially in the short term. The effect was more pronounced in the IVT group; however, PSTT injection also seemed to be a safe and effective technique for the treatment of DME. Further prospective studies are warranted to assess the efficacy and side effects of IVT and PSTT injections for the treatment of DME.     

Portal thrombosis complicating an acute cytomegalovirus infection in an immunocompetent patient

INTRODUCTION: The cytomegalovirus (CMV) infection is most often asymptomatic. The grave forms concern the immunocompromised patients. We report a new case pf acute CMV hepatitis complicated with portal thrombosis in an immunocompetent patient. EXEGESIS: A 29 year old man has presented a CMV hepatitis proved by the presence of pp65 protein and the viral DNA in serum. This infection was complicated by a portal thrombosis and the evolution was rapidly favourable under anticoagulant treatment. Eleven cases of major thrombosis complicating acute CMV infection in immunocompetent patients were previously reported in the English and French literature. The absence of local and general cause, the remission without anticoagulation, the elevated risk of thrombosis in both HIV and CMV seropositive patients, and in CMV seropositive renal transplant patients suggest a causal relation. Various pathogenic hypotheses were raised: presence of antiphospholipid antibodies, absent in our case, procoagulant phenotype induction of infected endothelial cells, proliferation induction of smooth cells. CONCLUSION: The acute CMV infection can be considered such as a possible cause of major thrombosis.     

When language meets action: the neural integration of gesture and speech

Although generally studied in isolation, language and action often co-occur in everyday life. Here we investigated one particular form of simultaneous language and action, namely speech and gestures that speakers use in everyday communication. In a functional magnetic resonance imaging study, we identified the neural networks involved in the integration of semantic information from speech and gestures. Verbal and/or gestural content could be integrated easily or less easily with the content of the preceding part of speech. Premotor areas involved in action observation (Brodmann area [BA] 6) were found to be specifically modulated by action information "mismatching" to a language context. Importantly, an increase in integration load of both verbal and gestural information into prior speech context activated Broca's area and adjacent cortex (BA 45/47). A classical language area, Broca's area, is not only recruited for language-internal processing but also when action observation is integrated with speech. These findings provide direct evidence that action and language processing share a high-level neural integration system.     

Does metformin prevent short-term oxidant-induced dna damage? In vitro study on lymphocytes from aged subjects

Metformin(1-(diaminomethylidene)-3,3-dimethyl-guanidine), an anti-hyperglycemic agent, also has antioxidant effects. Although the origin is not clearly understood, the antioxidant activity of metformin might result from a direct effect on reactive oxygen species (ROS) or could have an indirect action on the superoxide anions produced by hyperglycemia. The ability of metformin to modulate DNA damage produced by oxidative stress is not known. For this reason, we examined the short term effect of metformin (50 microM, 2 h) on the DNA damage of cumene hydroperoxide (CumOOH)-induced lymphocytes from aged and young control groups (n = 10 each). In this study, DNA damage elicited by CumOOH (1 mM) was detected with the Comet Assay and the ELISA technique. Our results showed a significant increase in apoptotic DNA fragmentation and DNA strand breaks (Comet assay tail factor %) that was detected before and after CumOOH induction in lymphocytes of healthy elderly subjects when compared with healthy young control. Metformin significantly decreased CumOOH-induced apoptotic DNA fragmentation and DNA strand breaks in lymphocytes from aged subjects, although it did not produce a long-term effect. The in vitro results indicate that the short-term effect of metformin can protect against prooxidant stimulus-induced DNA damage in lymphocytes from elderly subjects.