Long-term follow-up of an individual with vitamin B6-dependent seizures

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.</p

Long-term follow-up of an individual with vitamin B6-dependent seizures

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.</p

Evx2-Hoxd13 Intergenic Region Restricts Enhancer Association to Hoxd13 Promoter

Expression of Hox genes is tightly regulated in spatial and temporal domains. Evx2 is located next to Hoxd13 within 8 kb on the opposite DNA strand. Early in development, the pattern of Hoxd13 expression resembles that of Evx2 in limb and genital buds. After 10 dpc, however, Evx2 begins to be expressed in CNS as well. We analyzed the region responsible for these differences using ES cell techniques, and found that the intergenic region between Evx2 and Hoxd13 behaves as a boundary element that functions differentially in space and time, specifically in the development of limbs, genital bud, and brain. This boundary element comprises a large sequence spanning several kilobases that can be divided into at least two units: a constitutive boundary element, which blocks transcription regulatory influences from the chromosomal environment, and a regulatory element, which controls the function of the constitutive boundary element in time and space

Efficacy of topiramate for intractable childhood generalized epilepsy with epileptic spasms: With special reference to electroencephalographic changes

AbstractPurposeEpileptic spasms (ES) beyond infancy are a highly refractory type of seizures that require the development of an effective treatment. We therefore studied the efficacy and safety of topiramate (TPM), which is a drug that is indicated to be effective for intractable childhood epilepsy, for ES.MethodsOut of 58 children with ES, we enrolled 33 patients treated with TPM at ≤12years of age. The administration of TPM was limited to cases of epilepsies that were resistant to any other potent treatment. We retrospectively investigated the efficacy of TPM for seizures and changes in electroencephalogram (EEG) findings.ResultsThe median age at the start of TPM treatment was 5years, 8months. All patients had ES and 28 also had tonic seizures. As for the efficacy of TPM for all seizures, five patients became seizure-free and two had a ≥50% reduction in seizures. Seizure aggravation was observed in six patients. Of 29 patients whose EEG findings were compared before and during TPM treatment, nine showed EEG improvement with reduced epileptic discharges. Adverse effects were observed in 13 patients and included somnolence, anorexia, and irritability. In general, TPM was well tolerated.ConclusionsTPM can be effective at suppressing very intractable ES in a proportion of patients who do not respond to any other treatment. The efficacy of TPM may be predictable based on EEG changes observed early in the course of treatment. TPM is promising for the treatment of extremely intractable childhood epilepsy and it has largely tolerable adverse effects

Inhibitory Function and Working Memory in Attention Deficit/Hyperactivity Disorder and Pervasive Developmental Disorders:Does a Continuous Cognitive Gradient Explain ADHD and PDD Traits?

To clarify the relationship between attention deficit/hyperactivity disorder (AD/HD) and pervasive developmental disorders (PDD), we investigated the common features and differences of these disorders in neuropsychological profiles. The subjects were 4 groups of Japanese boys aged 6 to 15 years, categorized by diagnosis:AD/HD (n＝20), PDD with comorbid AD/HD (PDD＋:n＝16), PDD without comorbid AD/HD (PDD－:n＝8), and typically developing (n＝60). We evaluated executive function (EF) through verbal and visuospatial memory tasks, the Go/NoGo task, and the color-word matching Stroop task. We performed a categorical analysis to estimate the effects of the 3 disorders on EF and a dimensional analysis to estimate the effects of symptom scales on EF. We found that the AD/HD and PDD＋ subjects had negative effects on verbal working memory and intra-individual response variability. The severity of these impairments was positively correlated with the inattentiveness score. The subjects with a PDD＋ or PDD－ diagnosis had poorer scores on interference control;the severity of this impairment was correlated with the PDD symptom score. Impairments in visuospatial working memory were detected in the AD/HD and PDD－ groups but not in the PDD＋ group. Impairments in inhibition of the pre-potent response were noted in all 3 categories. AD/HD and PDD share neuropsychological features, though each disorder has a specific impairment pattern. Our findings partially support the idea that AD/HD and PDD are on a spectrum

Usefulness and complications of computed tomography-guided lipiodol marking for fluoroscopy-assisted thoracoscopic resection of small pulmonary nodules: Experience with 174 nodules

ObjectiveSeveral techniques have been reported for the localization of small pulmonary nodules in thoracoscopic resection. In the present study we examined the usefulness and complications of computed tomography-guided lipiodol marking for thoracoscopic resection in our experience of 174 nodules.MethodsComputed tomography-guided lipiodol marking was performed on 174 nodules less than 30 mm in size. Of these nodules, 45 showed ground-glass opacity images and 129 showed solid images on computed tomography. The mean size of the nodules was 10 ± 6 mm (range, 2-30 mm), and their mean depth from the pleural surface was 10 ± 7 mm (range, 0-30 mm). One to 7 days before thoracoscopy, all of the nodules were marked with 0.4 to 0.5 mL of lipiodol by using computed tomography. The marked nodules were grasped with a ring-shaped forceps during fluoroscopy and resected by means of thoracoscopy.ResultsAll the nodules could be marked and localized by means of fluoroscopy as a clear spot during thoracoscopic surgery. Complications of the marking were chest pain requiring analgesia in 16 (11%) patients, hemosputum in 11 (6%) patients, pneumothorax in 30 (17%) patients, and hemopneumothorax in 1 (0.6%) patient. Eleven (6%) patients with pneumothorax required drainage, and the patient with hemopneumothorax required an emergency operation. No other complications were observed.ConclusionLipiodol marking is a useful, safe, and inexpensive procedure for localizing ground-glass opacity lesions, small pulmonary nodules, or both for thoracoscopic resection