Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non‐convulsive status epilepticus?

The purpose of this study was to report patients with pharmacoresistant West syndrome of unknown cause whose magnetic resonance imaging (MRI) with diffusion weighted imaging (DWI) showed a transient decrease of diffusion in subcortical structures. Of 20 patients investigated over a 2-year period, three males and three females constitute the present series. They had daily clusters of infantile spasms with hypsarrhythmia for 4 to 24 months before the first investigation. Four were severely hypotonic. All aetiological studies involving intermediary metabolism, peroxysomes, mitochondria, and neurotransmitters in cerebrospinal fluid were negative. Patients underwent DWI when first examined at the mean age of 13 months, and on follow-up examination 6 to 18 months later. Diffusion was decreased in the pallidi and posterior brainstem. It was also decreased for five patients in thalami and for three in dentate nuclei. Repeat MRI, performed when spasms were still present but hypsarrhythmia had ceased, did not show the same abnormalities. Because of recruitment bias, this series probably overestimates the true incidence of such DWI abnormalities. The eventuality of toxic lesions, including some inborn error of metabolism or drug toxicity, is considered unlikely although it could not be excluded. The contribution of the epileptic encephalopathy itself appears the most likely course.     

Role of carnitine in utilization of dietary medium-chain triglycerides by term infants

The role of carnitine in oxidation of dietary medium-chain fatty acids (as medium-chain triglycerides) was studied in term human infants. Infants were fed, alternately, formulas with fat content that was predominantly long-chain triglycerides, or 40% medium-chain triglycerides. Urinary acylcarnitine excretion was significantly higher and the ratio of free to total carnitine was significantly lower when infants were fed the formula with medium-chain triglycerides. Two groups of 10 infants were fed a commercial soy-protein-based formula modified to contain 40% of fat calories as medium-chain triglycerides and with or without added L-carnitine. By 56 d, infants fed the formula without added L-carnitine excreted significantly more medium-chain dicarboxylic acids than did the same infants at 28 d and significantly more than infants consuming the carnitine-supplemented formula at either 28 or 56 d. Results are consistent with a role for carnitine in metabolism of dietary medium-chain triglycerides in infants.     

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet

Glycogen storage disease type III (GSD III) due to debranching enzyme deficiency presenting usually with hepatomegaly and hypoglycemia may be responsible for severe cardiomyopathy which is often fatal. Current treatment of GSD III is based on frequent high-carbohydrate meals that have no effect on the cardiomyopathy. We describe a 2-mo-old infant presenting with a familial form of GSD III complicated with cardiomyopathy. As conventional treatment was unable to improve his sister's cardiomyopathy who was deceased at age 11 mo, we proposed an experimental treatment combining the use of synthetic ketone bodies (D,L-3-OH butyrate) as an alternative energy source, 2:1 ketogenic diet to reduce glucose intake and high-protein diet to enhance gluconeogenesis. Twenty-four months after the onset of this treatment, echocardiography showed an improvement of cardiomyopathy. Growth and liver size remained normal, and no side effects were observed. Blood glucose levels remained within the normal range and insulin levels decreased. These findings show that synthetic ketone bodies as well as low-carbohydrate, high-lipid, and high-protein diet may be a more beneficial therapeutic choice therapeutic choice for GSD III patients with cardiomyopathy. These encouraging data need to be confirmed in more GSD III patients presenting with cardiac or muscular symptoms.     

Vitrification of human oocytes and different development stages of embryos: An overview

Cryopreservation of oocytes and embryos leads to increased cumulative pregnancy rates along with restored costs of artificial reproductive technology (ART), minimizing the risks of ovarian hyper stimulation syndrome (OHSS) through reducing number of stimulated cycles, reducing the risks of multiple pregnancy, allowing patients undergoing chemotherapy and radiotherapy to preserve their fertility and giving hope to those with genetic diseases as turner syndrome and premature ovarian failure or both.Vitrification of oocytes and embryos has reduced the idea of embryo selection because of the high viability rate and it is an area of active research justifying optimism for improved results in cryopreservation.     

Vesicles generated during storage of red cells are rich in the lipid raft marker stomatin

BACKGROUND: The release of vesicles by red blood cells (RBCs) occurs in vivo and in vitro under various conditions. Vesiculation also takes place during RBC storage and results in the accumulation of vesicles in RBC units. The membrane protein composition of the storage-associated vesicles has not been studied in detail. The characterization of the vesicular membrane might hint at the underlying mechanism of the storage-associated changes in general and the vesiculation process in particular. STUDY DESIGN AND METHODS: Vesicles from RBCs that had been stored for various periods were isolated and RBCs of the same RBC units were used to generate calcium-induced microvesicles. These two vesicle types were compared with respect to their size with atomic force microscopy, their raft protein content with detergent-resistant membrane (DRM) analysis, and their thrombogenic potential and activity with annexin V binding and thrombin generation, respectively. RESULTS: The storage-associated vesicles and the calcium-induced microvesicles are similar in size, in thrombogenic activity, and in membrane protein composition. The major differences were the relative concentrations of the major integral DRM proteins. In storage-associated vesicles, stomatin is twofold enriched and flotillin-2 is threefold depleted. CONCLUSION: These data indicate that a stomatin-specific, raft-based process is involved in storage-associated vesiculation. A model of the vesiculation process in RBCs is proposed considering the raft-stabilizing properties of stomatin, the low storage temperature favoring raft aggregation, and the previously reported storage-associated changes in the cytoskeletal organization.     

Clinical electrophysiologic effects of a single high oral dose of amiodarone

Summary— Several recent reports have described the antiarrhythmic effects of a single high oral dose of amiodarone but clinical electrophysiologic effects have not been reported. The present study was performed to assess electrophysiologic effects in 12 patients. After baseline electrophysiologic studies (EPS) patients were administered a single oral dose of 30 mg/kg of amiodarone. EPS was repeated 7.5 ± 0.5 hours later. Plasma levels of amiodarone and its metabolite desethylamiodarone were determined at the time of the second EPS. Holter monitoring was performed for 24 hours after amiodarone administration. Amiodarone significantly increased the following parameters: corrected QT interval (+4.5%), functional refractory period of the right atrium (+7%); AH interval (+12.3%), effective refractory period of the atrioventricular node (+18.5%), and cycle length of Wenckebach block (+8.4%). These effects were not correlated with plasma levels of amiodarone and desethylamiodarone. Holter monitoring detected no significant bradycardia or arrhythmia. These findings indicate that the effects of a single high oral dose of amiodarone are the same as those known to be induced by acute intravenous administration.