Heterogeneity of colorectal cancers and extraction of discriminator gene signatures for personalized prediction of prognosis.

Dissected specimens of colorectal cancer (CRC) have been intensively studied using molecular sketches (gene signatures) to obtain a set of discriminator gene signatures for accurate prognosis prediction in individual patients. The discriminators obtained so far are not universally applicable, as the gene sets reflect the method and site of the study. In this study, we show that dissected stage II and III CRC samples are significantly heterogeneous in molecular sketches, and are not appropriate sources for discriminator extraction unless handled individually. To search for an accurate discriminator gene set for prediction of metastases, we need to start with less heterogeneous stage II CRC. We examined 198 (92 stage II and 106 stage III) CRC dissected samples for the predictability of discriminator gene signatures by analyzing stage II CRC alone, stage III alone, or in combination. The best predictive power of discriminator genes was obtained only when these genes were extracted and validated with stage II CRC samples. An accurate discriminator gene set for the prediction of CRC metastases can be obtained by focusing on stage II CRC samples.

Long term prognosis of children born to lupus patients.

OBJECTIVE: To determine the long term prognosis of children of patients with systemic lupus erythematosus (SLE). METHODS: Children of patients with SLE were invited to attend our clinic for physical examination and laboratory tests. A total of 195 children (aged 4 months to 26 years; male = 82, female = 113) were examined in 1991, 1995, 1997, and 1998. RESULTS: Two cases were diagnosed as SLE at the first visit and were excluded from the second visit. A significantly higher percentage (52/195 (27%)) of patients were positive for antinuclear antibodies (ANA) at a cut off serum dilution of 1/40 compared with controls (4/57 (7%)). ANA were detected more frequently in female subjects than in men (p<0.05). Forty four subjects were examined on more than two occasions. Nine of the 10 patients who were positive for ANA at the second visit were girls aged 4-8 years. The incidence of anti-DNA and antiphospholipid antibodies in children of patients with SLE was similar to that in the controls. CONCLUSIONS: The finding that children, especially girls, born to maternal lupus patients had a high positive rate for ANA suggests that a genetic factor is involved in SLE pathogenesis. Longitudinal observation of these patients may provide important clinical information and clues to the pathogenesis of SLE.

Interhemispheric glioependymal cyst associated with agenesis of the corpus callosum--case report.

A male neonate was admitted because prenatal ultrasonography indicated central nervous system abnormalities. Neurological examination showed no abnormality except for electroencephalographic spike activities. Magnetic resonance imaging revealed a cystic lesion in the left interhemispheric fissure, agenesis of the corpus callosum, and microgyria in the left frontotemporal lobes. Cerebral blood flow (CBF) was diffusely reduced. The cyst wall was partially removed and a cyst-peritoneal shunt procedure was performed. The histological diagnosis was glioependymal cyst. The spike activity disappeared and CBF dramatically improved after the operation.

Clinical electroencephalographic study of nine pediatric patients with convulsion induced by the TV animation, Pocket Monster.

BACKGROUND: To determine the usefulness of a few types of photic stimulation in patients with photo-convulsive response. METHODS: A clinical electroencephalographic study was conducted in nine children who developed convulsions and other symptoms while they watched the TV animation and were subsequently treated at the hospital. Photic stimulation was applied with their eyes open or closed. Another photic stimulation was applied with the video tape of the animation. RESULTS: A photoparoxysmal response (PPR) was never seen in the electroencephalographs (EEG) in any of these patients when photic stimulation was applied with their eyes closed, while PPR was seen in three of seven patients when photic stimulation was applied with their eyes open. Two patients (siblings) showed no specific abnormality when photic stimulation was applied with their eyes either open or closed. However, myoclonus and PPR appeared when the EEG was conducted while they watched the video tape of the animation under supervised conditions. CONCLUSIONS: In a society where people are exposed to abundant TV games, TV animation or videos, self-restraint or regulations of frequent use of flickering scenes is thought to be necessary. However, it is also thought to be necessary to conduct EEG by applying photic stimulation, not only with the eyes closed, but also with the eyes opened or by applying flickering red light stimulation, which is emitted from a strong light source, or a combination of two colors, such as red and blue or red and green, in patients with suspected photosensitivity.

Unilateral megalencephaly in linear nevus sebaceous syndrome: a neuroradiological case report.

We report a case of linear nevus sebaceous syndrome with seizure, mental retardation, and hemiparesis. Magnetic resonance imaging (MRI) clearly demonstrated associated brain malformations of unilateral megalencephaly with cortical dysplasia and white matter change ipsilateral to the sebaceous nevi of the face and neck. Although magnetic resonance angiography (MRA) demonstrated only distortion of the main cerebral arteries without any occlusive or dysplastic findings, single photon emission computed tomography (SPECT) using [123I]N-Isopropyl-p-iodoamphetamine (IMP) revealed hypoperfusion in the affected cerebral hemisphere.

Carbamazepine-induced thrombocytopenia and leucopenia complicated by Henoch-Schönlein purpura symptoms.

A rare case of carbamazepine-induced leucopenia and thrombocytopenia complicated by Henoch-Schönlein purpura (HSP) symptoms is presented. Laboratory findings suggested that leucopenia and thrombocytopenia could be due to bone marrow suppression and HSP symptoms to an allergic reaction to carbamazepine. To the best of our knowledge this is the first report that carbamazepine may cause haematological disorders associated with symptoms of HSP by different mechanisms at the same time in the same patient.

Central diabetes insipidus in hypoxic brain damage.

We describe two children who after cardiopulmonary arrest developed hypernatremia at the terminal stage. Urinary antidiuretic hormone concentration was very low, indicating central diabetes insipidus. These cases illustrate the necessity of alertness to the development of central diabetes insipidus in patients with severe hypoxic brain damage.

The effects of clonazepam on rolandic discharge of benign epilepsy of children with centro-temporal EEG foci.

1) CZP had marked effects on RD. RD disappeared in 8 (73%) of 11 patients treated with CZP alone and 6 (43%) of 14 treated with CZP in combination with other drugs. Even when RD persisted, its amplitude and frequency decreased in some patients. 2) In the group treated with CZP in combination with other drugs, RD disappeared in all 5 patients with the persistent RD, of whom 2 had arachnoid cyst. Of the 6 patients with frequent seizures, 2 were subsequently diagnosed as having CPS and SPS, respectively. Patients who did not respond to CPZ included those in whom the diagnosis of BECCT should be reconfirmed, and electro-clinical response may be also useful for diagnosing RD. 3) In patients treated with CZP alone for a short-term treatment of BECCT, the drug administration could be discontinued only in one. A longer follow-up study is necessary to reach a conclusion in future.

Post-asphyxial encephalopathy in a preterm infant.

An infant born at 31 weeks gestation had abnormalities consistent with post-asphyxial encephalopathy, including decelerated fetal heart-rate, cord-blood acidosis and depressed Apgar scores. Clinical signs included respiratory depression, hypotonia and severe seizures. When seen at six months corrected age, however, he had no abnormal neurological signs. The authors conclude that asphyxia in preterm infants may result in clinical abnormalities similar to those in mature infants, but that the abnormalities are separate from haemorrhage and ischaemia.

Effects of puberty on seizure frequency.

Seizure frequency was documented before, during and in some cases after puberty for 12 patients with continuing generalised tonic-clonic seizures (GTCS) and for 14 with complex partial seizures (CPS) who were receiving anti-epileptic drugs. For the patients with GTCS there was a significant increase in seizure frequency during the pubertal growth-spurt, with a subsequent decrease after growth ceased. There appeared to be no relationship between puberty and the frequency of CPS. Both groups were more likely to have suboptimal plasma drug-levels during puberty, suggesting that medication was not the cause of the increased GTCS frequency. Further examination of hormonal levels in relation to frequency of GTCS during puberty could provide a better understanding of the influence of hormones.