Long-term outcome of epilepsy in patients with prader–willi syndrome

Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy

Vascular risk factors in glaucoma: the results of a national survey

Background The role of vascular risk factors in glaucoma is still being debated. To assess the importance of vascular risk factors in patients with primary open-angle glaucoma (POAG), data from the medical history of 2,879 POAG patients and 973 age-matched controls were collected and analyzed. Methods Design: observational survey. Setting: 35 Italian academic centers. Study population: POAG patients and age-matched controls. In order to reduce bias consecutive patients were included. Observation procedures: data concerning vascular risk factors were collected for all patients with a detailed questionnaire. A complete ophthalmological examination with assessment of intraocular pressure (IOP), visual field, optic disc, and systemic blood pressure was performed. Main outcome measures: the ESH-ESC (European Society of Hypertension-European Society of Cardiology) guidelines were used to calculate the level of cardiovascular risk. Crude and adjusted estimates of the odds ratios (OR) were calculated for all cardiovascular risk factors in POAG and controls. Results The study included 2,879 POAG patients and 973 controls. POAG cases had a significantly higher systolic and diastolic blood pressure (p=0.001) and systolic perfusion pressure (p=0.02) as compared with controls. Also mean IOP was significantly higher in the POAG group (p=0.01), while diastolic perfusion pressure was not significantly different in the two groups. Myopia was more prevalent in the POAG group (23 vs 18%, p=0.005) as well as a positive family history for glaucoma (26 vs 12%, p= 0.004). POAG patients tended to have a higher cardiovascular risk than controls: 63% of glaucoma cases vs 55% of controls (OR: 1.38, p=0.005) had a “high” or “very high” cardiovascular risk. Conclusions The level of cardiovascular risk was significantly higher in glaucoma patients than in controls

Role of higher dietary carbohydrate intake in cataract development

We read with great interest the article by Chiu et al., who examined the cross-sectional associations between total carbohydrate intake, dietary glycemic index (dGI), and the risk of cortical and nuclear cataracts. The main result is that the highest quartiles of carbohydrate intake correspond with a 2.13-fold risk of developing cortical cataract. There are some points in the paper that should to be clarified, to avoid the false perception that a higher dietary carbohydrate intake, per se, is responsible for cataract development. Although experimental evidence has suggested an association between nutrition and lens opacities, a defined role for dietary differences and cataract formation has not yet been ascertained. For example, a dietary deficiency of antioxidants and reactive oxygen scavengers may be involved in the pathogenesis of the idiopathic human senile cataract, as well as in some experimental cataracts and in cataracts in developing countries. On the contrary, studies performed in subjects living in industrialized countries have failed to demonstrate significant differences in the blood levels of nutrients or metabolites between cataractous and controls subjects. The same is true of high carbohydrate intake. Normal persons exposed to the highest carbohydrate intake do not develop diabetes or diabetes complication, such as cataract, since the blood glucose test results (A1C test, fasting plasma glucose test, and/or oral glucose tolerance test [OGTT]) remain within the normal range. The situation is different in diabetic patients and in patients with reduced tolerance to glucose. Before developing type 2 diabetes, individuals are in a disease stage called prediabetes, in which blood glucose levels are higher than normal, but are not yet high enough to be diagnosed as diabetic. Recent research has shown that some long-term damage to the body, especially the heart and circulatory system, may already be occurring during the prediabetes period, which is characterized by impaired fasting glucose (IFG) and impaired glucose tolerance (IGT). Both IFG and IGT exhibit elevated glucose levels that are not sufficient to be classified as diabetes, but that represent the development of insulin resistance. Achieving glycemic control in patients with prediabetes through lifestyle and pharmacologic interventions can effectively prevent or delay the development of diabetes and its associated complications (cataract. The prevalence of prediabetes in adults aged ≥18 years varies by age, sex, and race/ethnicity, and there is a considerable discordance between the indicators used to measure the risk. The first step, however, is to identify patients at risk. Although patients can be identified with an OGTT or a fasting plasma glucose (FPG) screening, a normal FPG does not preclude an elevated OGTT and, therefore, the presence of prediabetes. Thus, the risk of developing prediabetes is always underestimated. In the study by Chiu et al., the problem related to the prediabetes status was not considered at all, although they declared that “diabetes is a strong confounder of the associations that were of interest to us.” In fact, they looked only at a prior diagnosis of diabetes, which was responsible for the exclusion of only 121 (4.66%) diabetic persons of 2594 participants. Ravikumar et al., in a recently published cross-sectional study on the prevalence and risk factors of diabetes in a community-based study in North India, found that the prevalence of diabetes was 15.7% (95% CI, 13.9–16.9) with a similar percentage for prediabetes (15.4%; 95% CI, 14.3–17.1). On the other hand, Twigg et al., in a study performed in Australian adults to evaluate the presence of impaired fasting glucose/glycemia and/or impaired glucose tolerance, found that prediabetes affected approximately 16.4% of their recruited subjects. This percentage would significantly affect the results reported by Chiu et al. In conclusion, we believe that carbohydrate intake, per se, is not responsible for cataract development in normal individuals. The situation is different in the presence of reduced glucose tolerance. Thus, rather than to glucose intake, the relationship should be made to prediabetes status, which accounted for a percentage higher than diabetes itself in the Australian population

Improving visual activity using Gabor patch technology in Stargardt disease: a retrospective study

Gabor patch technology is a non-invasive, patient-specific treatment based on visual stimulation and facilitation of neural connections responsible for vision. The treatment improved BCVA in Stargardt patients. Mean BCVA, for the 10 eyes, has raised from 0.81 (+- 0.17) logMar to 0.49 (+-0.07) logMar. Mean ETDRS’ chart lines improvement has been 3.18 +-2.05. This improvement appears to be retained for at least 12 months after treatment, consistent with the disease progression