Cortical tubers, cognition, and epilepsy in tuberous sclerosis.
ABSTRACT Tuberous sclerosis complex is an autosomal-dominant genetic disorder characterized by hamartomatous growth in various organs. Patients who have this disorder exhibit a high rate of epilepsy and cognitive problems. We investigated number of tubers, location, seizure types, and cognitive outcome, and we analyzed the relationships among them in our tuberous sclerosis patients in the Comprehensive Epilepsy Program at the University of Alberta. We also examined the seizure outcome after tuber resection. Our study cohort included 24 patients with tuberous sclerosis complex. We obtained seizure history, electroencephalogram, and neuropsychologic parameters. Magnetic resonance imaging was used to examine tuber numbers and locations. Ten patients underwent surgical removal of tubers responsible for intractable epilepsy. A negative correlation was found between the number of tubers and intelligent quotient score. Epilepsy surgery led to freedom from seizures in this patient group. We demonstrated that the total number and location of cortical tubers play a significant role in the extent of mental retardation in patients with tuberous sclerosis complex. In addition, patients with intractable seizures and well-defined epileptic focus had excellent surgical outcome.
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ABSTRACT: To present a prenatal diagnosis of familial tuberous sclerosis complex (TSC). A 29-year-old woman was referred to our institution for amniocentesis at 24 weeks of gestation because of congenital anomaly. The fetus had been found to have an intrathoracic echogenic mass, suspicious of type III congenital cystic adenomatoid malformation of the lung (CCAML). The woman presented with a medical history of epilepsy and had received anticonvulsants but did not disclose the disease entity associated with the epilepsy. Amniocentesis revealed a karyotype of 46,XX. A fetal ultrasound examination at 26 weeks of gestation reported the diagnosis of type III CCAML. At 30 weeks of gestation, magnetic resonance imaging showed multiple cortical tubers in the brain along with an intracardiac mass suspicious of cardiac rhabdomyoma, and a diagnosis of fetal TSC was made. A prenatal ultrasound examination at 30 weeks of gestation revealed multiple cardiac tumors and multiple cortical tubers in the brain. The mother admitted that she had been diagnosed to have TSC. Molecular analysis of the cultured amniocytes and the parental blood showed a splicing mutation of c.2639+1G>C in the splice donor site of intron 22 of TSC2 gene in the mother and the fetus. Prenatal diagnosis of an intrathoracic lesion with a family history of parental epilepsy should raise a suspicion of fetal cardiac rhabdomyoma and TSC, and prompt magnetic resonance imaging investigation and molecular genetic analysis if necessary.Taiwanese journal of obstetrics & gynecology 09/2013; 52(3):415-9.
- Society for Neuroscience, New Orleans, LA; 01/2012
Conference Paper: VLSI design of a systolic array for finding maximal overlaps of strings[Show abstract] [Hide abstract]
ABSTRACT: The shortest common superstring (SCS) problem requires that the maximal overlays between a given set of strings be found. An efficient VLSI design of a systolic array for finding maximal overlays of strings is described. The systolic array consists of two types of cells, comparator and accumulator. The comparator cell is a combinational circuit, and the accumulator cell is sequential. Inverting half shift register stages are used to move the streams. Therefore two versions (positive and negative) of each of the two cells are needed. The positive accumulator cell circuit and cell layout are illustrated. Alternate cells in the systolic array are clocked by a different phase of a two-phase nonoverlapping clockCircuits and Systems, 1992., Proceedings of the 35th Midwest Symposium on; 01/1992