Cerebral Palsy

Brain edema formation, resulting in increased intracranial pressure (ICP), is one of the most deleterious consequences of traumatic brain injury (TBI). Nitric oxide (NO) has previously been shown to be involved in the damage of the blood-brain barrier and, thus, in the formation of post-traumatic brain edema, however, this knowledge never resulted in a clinically relevant therapeutic option because available NO synthase inhibitors have serious side-effects in man. Therefore the aim of the current study was to investigate the therapeutic efficacy of VAS203, a novel tetrahydrobiopterine (BH3)-based NOS inhibitor, in experimental TBI. When added to isolated vessels rings obtained from rat basilar and middle cerebral arteries (n=32-35) VAS203 showed the same vasoconstrictive effect as the classical NO synthase inhibitor L-(G)-nitro-arginine-methylester (L-NAME). VAS203 passed the blood brain barrier (BBB) both in healthy and traumatized mouse brain (C57/BL6, n=5 per group) and did not show any systemic side effects at therapeutic concentrations. When administered 30 min after experimental TBI (controlled cortical impact, 2.2 mg/kg/min, i.v., n=7 per group) VAS203 prevented any further increase in ICP or deterioration of cerebral blood flow. This effect was dose-dependent and long-lasting, i.e. 24 hours after trauma, brain edema formation was still significantly reduced (-40%, p<0.008; n=7 per group) and functional improvements were present up to 7 days after TBI (p<0.02 on post-trauma day 6; n=8 per group). Therefore, VAS203 may represent a promising candidate for the treatment of acute intracranial hypertension following TBI.

Cactus polysaccharides (CP), some of the active components in Opuntia dillenii Haw have been reported to display neuroprotective effects in rat brain slices. In the present study, we investigated the neuroprotective properties of CP and their potential mechanisms on brain ischemia-reperfusion injury in rats, and on oxidative stress-induced damage in PC12 cells. Male Sprague-Dawley rats with ischemia following middle cerebral artery occlusion and reperfusion were investigated. CP (200 mg/kg) significantly decreased the neurological deficit score, reduced infarct volume, decreased neuronal loss in cerebral cortex, and remarkably reduced the protein synthesis of inducible nitric oxide synthase which were induced by ischemia and reperfusion. Otherwise, the protective effect of CP was confirmed in in vitro study. CP protected PC12 cells against hydrogen peroxide (H(2)O(2)) insult. Pretreatment with CP prior to H(2)O(2) exposure significantly elevated cell viability, reduced H(2)O(2)-induced apoptosis, and decreased both intracellular and total accumulation of reactive oxygen species (ROS) production. Furthermore, CP also reversed the upregulation of Bax/Bcl-2 mRNA ratio, the downstream cascade following ROS. These results suggest that CP may be a candidate compound for the treatment of ischemia and oxidative stress-induced neurodegenerative disease.

AIM: To investigate the spatial distribution patterns of anorectal atresia/stenosis in China. METHODS: Data were collected from the Chinese Birth Defects Monitoring Network (CBDMN), a hospital-based congenital malformations registry system. All fetuses more than 28 wk of gestation and neonates up to 7 d of age in hospitals within the monitoring sites of the CBDMN were monitored from 2001 to 2005. Two-dimensional graph-theoretical clustering was used to divide monitoring sites of the CBDMN into different clusters according to the average incidences of anorectal atresia/stenosis in the different monitoring sites. RESULTS: The overall average incidence of anorectal atresia/stenosis in China was 3.17 per 10 000 from 2001 to 2005. The areas with the highest average incidences of anorectal atresia/stenosis were almost always focused in Eastern China. The monitoring sites were grouped into 6 clusters of areas. Cluster 1 comprised the monitoring sites in Heilongjiang Province, Jilin Province, and Liaoning Province; Cluster 2 was composed of those in Fujian Province, Guangdong Province, Hainan Province, Guangxi Zhuang Autonomous Region, south Hunan Province, and south Jiangxi Province; Cluster 3 consisted of those in Beijing Municipal City, Tianjin Municipal City, Hebei Province, Shandong Province, north Jiangsu Province, and north Anhui Province; Cluster 4 was made up of those in Zhejiang Province, Shanghai Municipal City, south Anhui Province, south Jiangsu Province, north Hunan Province, north Jiangxi Province, Hubei Province, Henan Province, Shanxi Province and Inner Mongolia Autonomous Region; Cluster 5 consisted of those in Ningxia Hui Autonomous Region, Gansu Province and Qinghai Province; and Cluster 6 included those in Shaanxi Province, Sichuan Province, Chongqing Municipal City, Yunnan Province, Guizhou Province, Xinjiang Uygur Autonomous Province and Tibet Autonomous Region. CONCLUSION: The findings in this research allow the display of the spatial distribution patterns of anorectal atresia/stenosis in China. These will have important guiding significance for further analysis of relevant environmental factors regarding anorectal atresia/stenosis and for achieving regional monitoring for anorectal atresia/stenosis.

Congenital abnormalities of coronary arteries may predispose to life-threatening sudden cardiac events. We present a case of aborted sudden cardiac death in a patient who was diagnosed as having single coronary artery originating from right coronary sinus. The vessell divided into critically stenosed left main trunk and significantly narrowed right coronary artery. The patient was successfully treated with coronary artery bypass grafting preceded by implantation of ICD device.

Background: The aim of remote monitoring of implantable cardioverter-defibrillators (ICD) is to increase the patient’s safety by early detection of technical or medical malfunctions and decrease the number of follow-up visits. Aim: To evaluate the feasibility and reliability of internet-based home monitoring of ICD recipients in Poland. Methods: Twenty-seven patients with ICD with remote monitoring options were evaluated; 20 (74%) patients had a single chamber ICD, 6 (22%) patients had a dual chamber ICD and one had an ICD with a resynchronisation therapy option. Medical and technical events reported by the remote monitoring system as well as interruptions in monitoring longer than 14 days were analysed. Results: The patients were followed for 12.7 +/- 10.5 months. Two of them died because of heart failure (6 and 13 months after ICD implantation, respectively). The remote monitoring system reported medical events in 13 (48%) patients. In total, we received 32 event reports (from 1 to 19 per patient, mean 2.6) which were generated due to the detection of ventricular tachycardia (VT) (17 events in 9 patients), ventricular fibrillation (VF) (9 episodes in 6 patients), ineffective defibrillation with the maximal energy (5 reports in 3 patients) and supraventricular tachycardia in the VT detection window (1). Two patients had more than 3 VT/VF episodes during 24 h. There were no reports on technical abnormalities of the ICD system. Interruptions in home monitoring longer than 14 days occurred in 5 (18.5%) patients and lasted 2 to 14 weeks (mean 2.8 +/- 7.1). The longest break was caused by the patient’s stay abroad. The remaining interruptions were caused by: journeys (5 episodes), hospitalisations (4), and a temporary stay in a place without sufficient GSM coverage (3). During the follow-up period there were no interruptions in monitoring caused by transmitter or ICD failure. All data received by the home monitoring system were confirmed during the follow-up visits. Conclusion: Remote monitoring of ICD recipients in Poland does not present technical difficulties and enables early detection of serious events in ICD patients.

This report discusses the case of a fetus with previously normal findings of cardiotocograph that experienced an acute neurologic insult antenatally. The fetus presented with abnormalities of its heart rate tracing and its movement patterns on ultrasound. Following delivery, the infant was diagnosed with hypoxic ischemic encephalopathy by DWI in the first 24 h after birth, despite having a normal postnatal brain ultrasound.

Objective. The study aimed to estimate the incidence of increased nuchal translucency in the first trimester ultrasound scan results (cut-off limit 2.5 mm) and to evaluate the predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities. Methods. We used the ultrasound scan results of nuchal translucency evaluation and the results of chromosomal analysis of the invasive prenatal control performed as a result of increased nuchal translucency. Results. We collected 2183 nuchal translucency ultrasound scans in which we detected 21 embryos with a pathologic value (0.96%). We collected the data of 168 cases of invasive prenatal control due to increased nuchal translucency from which 122 cases were found. A total of 122 cases of pregnant women undergone an invasive prenatal diagnostic method due to increased nuchal translucency, of which 11 fetuses were found with trisomy 21 (Down syndrome) (9%), 3 fetuses with trisomy 13 (Patau syndrome) (2.45%), 3 fetuses with monosomy 45XO (Turner syndrome) (2.45%) and 1 fetus with translocation (0.8%). Conclusions. The positive predictive value of the increased fetal nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities based on the results of the chromosomal-genetic analysis of the invasive prenatal diagnostic procedures is 14.8%.

One known genetic mechanism for transient neonatal diabetes is loss of methylation at 6q24. The etiology of prune belly sequence is unknown but a genetic defect, affecting the mesoderm from which the triad abdominal muscle hypoplasia, urinary tract abnormalities, and cryptorchidism develop, has been suggested. We investigated a family, including one twin, with transient neonatal diabetes and prune belly sequence. Autoantibody tests excluded type 1 diabetes. Microsatellite marker analysis confirmed the twins being monozygotic. We identified no mutations in ZFP57, KCNJ11, ABCC8, GCK, HNF1A, HNF1B, HNF3B, IPF1, PAX4, or ZIC3. The proband had loss of methylation at the 6q24 locus TNDM and also at the loci IGF2R, DIRAS3, and PEG1, while the other family members, including the healthy monozygotic twin, had normal findings. The loss of methylation on chromosome 6q24 and elsewhere may indicate a generalized maternal hypomethylation syndrome, which accounts for both transient neonatal diabetes and prune belly sequence.

Spirulina platensis (SP) is a filamentous cyanobacterium microalgae with potent dietary phyto-antioxidant, anti-inflammatory and anti-cancerous properties. The present study aimed to investigate the chemopreventive effect of SP against rat liver toxicity and carcinogenesis induced by dibutyl nitrosamine (DBN) precursors, and further characterized its underlying mechanisms of action in HepG2 cell line. Investigation by light and electron microscopy showed that DBN treatment induced severe liver injury and histopathological abnormalities, which were prevented by SP supplementation. The incidence of liver tumors was significantly reduced from 80 to 20% by SP. Immunohistochemical results indicated that both PCNA and p53 were highly expressed in the liver of DBN-treated rats, but were significantly reduced by SP supplementation. Molecular analysis indicated that SP treatment inhibited cell proliferation, which was accompanied by increased p21 and decreased Rb expression levels at 48hrs post-treatment. In addition, SP increased Bax and decreased Bcl-2 expression, indicating induction of apoptosis by 48hrs. This is the first report of the in vivo chemopreventive effect of SP against DBN-induced rat liver cytotoxicity and carcinogenesis, suggesting its potential use in chemoprevention of cancer.

AimTo evaluate the profile of strabismus that occurs in stroke survivors and determine the relationship between site of stroke and symptom of diplopia.MethodsProspective multi-centre cohort trial involving 16 recruiting centres (Vision In Stroke (VIS) Group). Standardised referral and investigation protocol used by local investigators. Each patient underwent assessment of ocular alignment, motility, and binocular vision. Results were evaluated with non-parametric statistical tests.ResultsIn all, 512 patients were recruited with a mean age of 69 years: SD 15 over a 2-year period (59% male patients, 41% female patients). Median duration from onset to vision assessment was 19 days (range 0-1140 days). About 19% of the patients had strabismus detected on orthoptic investigation after the onset of stroke. Of these strabismic patients 12.5% had strabismus that pre-existed the onset of stroke (that could be determined from case history). A total of 70% had strabismus associated with ocular motility abnormalities and 30% were in isolation. About 24% were associated with brain stem, cerebellar, thalamus or basal ganglia strokes, and 73% with cortical strokes. Around 36% complained of diplopia and the remainder had no symptoms related to their strabismus.ConclusionsStrabismus was found to occur in 16.5% of patients after their stroke. Strabismus with diplopia was always associated with other ocular motility abnormalities, whereas strabismus without associated ocular motility abnormalities did not result in the symptom of diplopia.Eye advance online publication, 12 June 2009; doi:10.1038/eye.2009.138.