The management of epilepsy in pregnancy

While most women with epilepsy can expect a normal pregnancy outcome, epilepsy remains a significant contributor to both maternal and perinatal morbidity. Pre-pregnancy planning must address reliable contraception and optimisation of antiepileptic drug (AED) regimens to minimise teratogenic risk while maintaining seizure control. The most recent data from the AED registries regarding malformations is presented in this review, as is the limited data on the newer AEDs and studies linking neurocognitive outcomes to AED exposure. During pregnancy, important considerations include; therapeutic drug monitoring, surveillance for obstetric complications and vigilance for seizures during the intrapartum and postpartum period.     

University students’ perceptions of the life effects of stuttering

An open-ended, written survey was administered to 146 university students who did not stutter to obtain their impressions of the effects of stuttering on the lives of people who stutter (PWS). Participants first wrote about the general effects of stuttering and then considered how their lives would be different if they stuttered. Both types of responses, while not qualitatively different, indicated that participants were more likely to focus on negative listener reactions and barriers to social, academic, and occupational success when they imagined themselves as PWS. Fewer participants indicated that PWS may positively cope with their stuttering through acceptance of stuttering, motivation and determination, and support systems. Quantitative differences based on gender and familiarity with PWS were not observed. The findings suggest that while university students are generally sensitive to the issues which can affect PWS, they may also tend to exaggerate the limitations placed on PWS by their stuttering.Learner outcomesThe reader will be able to (1) understand the various ways in which fluent speakers perceive the life effects of stuttering; (2) discuss how fluent speakers, while apparently sensitive to the negative effects of stuttering, can also overemphasize the degree to which PWS are unable to participate effectively and autonomously in society; and (3) recognize the need for additional research in this area and for continued education of the general public and others by advocacy groups.     

Feasibility of using interpolated contours of targets and organs at risk in intensity‐modulated radiation therapy treatment planning for advanced‐stage nasopharyngeal carcinoma

To assess the dosimetric effect of using interpolated contours in planning intensity‐modulated radiation therapy (IMRT) for advanced T‐stage nasopharyngeal carcinoma. The present study focused on T3–T4 tumours where the proximity of targets to neurological organs poses a stringent test on the feasibility of such an approach. Contours of targets and organs were delineated on CT images of 2.5‐mm interval and a reference IMRT plan was generated. An investigative (INV) IMRT plan was then generated with the same planning protocol, but based on interpolated contours that replaced deleted contours on alternate slices. The reference and INV plans were compared. Regarding target coverage, all targets in the INV plans met the acceptance criteria except for the PTV in one case. Regarding organs, the mean dose to 1% volume of the brainstem and spinal cord in the INV plans were kept below their dose limits. No significant differences in the mean doses to others organs were found. Satisfactory target coverage and protection of critical organs to a degree similar to full‐scale contouring could be achieved with use of interpolated contours. The saving in manpower time for contouring is expected to significantly improve the throughput of the IMRT planning process.     

DNA testing for fragile X syndrome in schools for learning difficulties

Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals but also to identify carriers who are unaware of their high risk of having an affected child. The disorder is associated with a cytogenetically visible fragile site (FRAXA) at Xq27.3, caused by amplification of a (CGG)n repeat sequence within the gene at this locus designated FMR1. Clinical and molecular studies have been undertaken to screen for fragile X syndrome in 154 children with moderate and severe learning difficulties of previously unknown origin. Southern blot analysis of peripheral blood showed the characteristic abnormally large (CGG)n repeat sequence associated with fragile X syndrome in four of the 154 children. The findings were confirmed by cytogenetic observation of the fragile site and by further molecular studies. The families of the affected children were offered genetic counselling and DNA tests to determine their carrier status. These findings show that there are still unrecognised cases of fragile X syndrome. Given the difficulty of making a clinical diagnosis and the implications for families when the diagnosis is missed, screening in high risk populations may be justified. The issues involved in screening all children in special schools for fragile X syndrome are discussed.     

Clinical results of intravitreal administration of tissue-type plasminogen activator (tPA) and gas for removal of subretinal hemorrhage in senile macular degeneration

BACKGROUND: Subretinal hemorrhage in age related macular degeneration (AMD) usually causes acute visual loss and is associated with poor visual prognosis. In order to prevent retinal damage and to perform laser treatment of the underlying choroidal neovascularization (CNV) the subretinal hemorrhage has to be removed from the macular region. This could be achieved by intravitreal injection of tissue plasminogen activator (tPA) and gas. PATIENTS AND METHODS: In 8 consecutive patients, suffering from a massive macular hemorrhage (duration of visual problems: mean 9 days), tissue plasminogen activator (tPA) (40 micrograms in 400 microliters BSS) and SF6-gas (0.75 ml) was transsclerally injected into the vitreous cavity to achieve liquification and displacement of the hemorrhage. RESULTS: In all patients liquification and displacement of the hemorrhage out of the macular region was achieved during follow up. During the first week after operation a significant increase of visual acuity was noticed in all patients, however ophthalmoscopically there was just little reduction of the hemorrhage in the foveolar area. After successful removal of the blood the choroidal neovascularization was treated successfully by laser coagulation in one patient. No laser treatment was performed in the other patients because of the subfoveal location of the neovascularisation or because of disciform scar. Visual acuity increased 4 lines after surgery. In one case the procedure was complicated by a persistent vitreous hemorrhage and vitrectomy had to be performed in another patient due to an endophthalmitis. CONCLUSION: Intravitreal injection of tPA assisted gas displacement of subretinal hemorrhage due to AMD leads to a significant increase of visual acuity during the first week after operation. Although a nearly complete removal of the hemorrhage out of the macular area could be achieved, it was difficult to differentiate this from the spontaneous course. Laser photocoagulation could be performed in only few cases.     

Action-research on the prevention of abuse in the very young child. Methodology and initial results

Teams of pediatricians and psychiatrists are leading a joint action-research in public health which intends to develop and evaluate original modes of prevention of abuse and grave neglect concerning infants with medico-psychosocial high risk factors. The framework of this study is a randomized controlled trial on the modes of prevention. The sample, consisting of infants under one year of age and selected from their health certificate of the 8th day and 9th month, is divided into two groups: the treated group who benefited from specific preventive interventions and the control group who benefited from classic surveillance. The research was longitudinal and was centered on the study of mother-infant interactions at 3 months, 1 year, 2 years and 3 years of age. The dynamics in the action-research is illustrated by the evolution of the tool for assessment of early interactions and the refocusing of the research. From the analysis of the data from the phase of feasibleness, which included 114 infants, three main results have come out: definition of a "danger" pointer: dysharmonious mother-infant interactions at 3 months; a new risk factor was brought to light: "disrupted grand-parental family"; father's role in mother-infant interactions. These first results have had a major impact on the method for the active phase which is now in progress and intends to evaluate the new modes of prevention.     

Synthesis of (aminoalkylamine)-N-aminoalkyl)azanonaborane(11) derivatives for boron neutron capture therapy

New boron-containing polyamine have been synthesized: (aminoalkylamine)-N-(aminoalkyl)azanonaborane(11) derivatives [H(2)N(CH(2))(n)H(2)NB(8)H(11)NH(CH(2))(n)NH(2)], where n = 4-6 and 12, and [H(2)N(CH(2))(3)H(2)NB(8)H(11)NH(CH(2))(4)NH(2)]. (4-Aminobutylamine)-N-(4-aminobutyl)azanonaborane and (3-aminopropylamine)-N-(4-aminobutyl)azanonaborane were less toxic in vitro (LD(50) of approximately 700 and approximately 1100 microM, respectively) than spermine, while (4-aminobutylamine)-N-isopropylazanonaborane with its hydrophobic isopropyl group and those with n = 5, 6, and 12 were already toxic under similar conditions (LD(50) < 500 microM). These compounds may be useful as delivery agents for boron neutron capture therapy.     

Surgical removal of idiopathic epiretinal membrane with or without the assistance of indocyanine green: a randomised controlled clinical trial

Purpose To carry out a prospective investigation of the functional and morphological outcome of idiopathic epiretinal membrane (IEM) surgery with or without the assistance of indocyanine green (ICG) in a randomised controlled clinical trial. Methods Sixty patients who underwent vitrectomy with removal of IEM combined with cataract surgery were randomly allocated to two groups: 27 patients were operated on with ICG 0.1% in glucose 5%, 33 patients without ICG. Functional outcome was assessed 3-4 months postoperatively with improvement of best-corrected visual acuity (BCVA), Amsler grid test, and automated and kinetic perimetry. Postoperative residual or recurrent IEM was assessed with bio-microscopy, and macular oedema with optical coherence tomography (OCT). Improvement in BCVA was the main outcome measure. Results BCVA improved in 49 patients, remained unchanged in five and decreased in five. Improvement in BCVA and reduction of macular oedema were statistically significant within both groups (P < 0.01). Improvement in BCVA was not statistically significantly different whether ICG was used or not [0.17 (logarithm of minimum angle of resolution; logMAR) with ICG and 0.24 (logMAR) without ICG] (P = 0.59). There was no statistically significant difference in preoperative or postoperative BCVA, reduction of macular oedema, postoperative Amsler grid test, or incidence of residual or recurrent IEM between the two groups. Visual field defects were detected in two patients operated on with ICG. Conclusions Removal of IEM with or without the assistance of ICG equally improved visual function and macular morphology. This study has been registered with , no.: NCT00376857. Presented in part at the 15th Meeting of Societas Ophthalmologica Europaea (SOE), Berlin, Germany, 25–29 September 2005, and at the Annual Meeting of the Association for Research in Vision and Ophthalmology, Fort Lauderdale, Florida, USA, 30 April–4 May 2006.     

Correlation between optical coherence tomography and autofluorescence in acute posterior multifocal placoid pigment epitheliopathy

Purpose To report a case of bilateral acute posterior multifocal placoid pigment epitheliopathy (APMPPE) evaluated by optical coherence tomography (OCT), fundus autofluorescence (AF) and microperimetry, both in the acute phase and after resolution of symptoms.Methods Complete ophthalmological evaluation, including fluorescein angiography, OCT, AF, and microperimetry upon presentation and 1 month later, after lesions have subsided. An attempt to correlate the findings on presentation and changes after resolution is performed using the results of these new investigational techniques.Results APMPPE showed hyperreflectance in OCT at the level of the outer retinal layers, without increase in retinal thickness. AF revealed early decreased fluorescence due to a masking effect, and later reveals increased fluorescence after resolution of OCT findings. Function is disturbed at the lesion sites, as shown by microperimetry, and later returns to near normal values on microperimetry.Conclusion APMPPE shows outer retinal layers changes on OCT, which resolve totally after subsidence of the acute phase. AF shows areas of increased fluorescence after resolution, with near normal return of function on microperimetry.     

Low-dose inhaled nitric oxide for neonates with pulmonary hypertension

Objective : Inhaled nitric oxide (iNO) has been shown to cause selective pulmonary vasodilatation and improve ventilation-perfusion matching and may be an important therapeutic option for the treatment of persistent pulmonary hypertension of the newborn (PPHN). We report our experience on the use of iNO in neonates with severe PPHN.
Methodology : Inhaled NO was administered to 10 infants with PPHN and persistent hypoxaemia (meconium aspiration syndrome, n = 9; pneumonia, n = 1) after failure of conventional therapy to improve oxygenation. With the exception of one infant, iNO was commenced at 10 ppm.
Results : After 30 min exposure to iNO, the arterial oxygen tension (PaO₂) rose from a median of 49 mmHg (6.5 kPa) [range 12-82 mmHg (1.6-10.9 kPa)] to 75 mmHg (10 kPa) [range 17-450 mmHg (2.3-60 kPa)] ( P = 0.005), while the median oxygenation index fell (pre-iNO of 37 vs post-iNO 20) ( P = 0.005) and median systemic arterial pressure rose (pre-iNO 46.5 mmHg (6.2 kPa) [range 32-63 mmHg (4.3 to 8.4 kPa vs post-iNO 54.5 mmHg (7.3 kPa) [range 36-74 kPa]) P = 0.005). All infants subsequently continued to receive iNO with the duration of exposure to iNO ranging from 12 to 168 h (median duration 100 h). Three infants died despite showing an initial beneficial response to iNO. The mean duration of intubation for survivors was 11.9 ± 2.6 days. Methaemoglobinaemia and toxic levels of nitrogen dioxide were not seen during iNO administration. Of the seven survivors, 12 month follow up in two infants and 4 month follow up in four infants showed age-appropriate neurodevelopmental skills, with one infant having very mild hearing loss.
Conclusions : Inhaled NO reduces the oxygenation index by improving the PaO₂ and decreasing ventilation pressures, and appears to be clinically useful in severely hypoxaemic infants with PPHN refractory to conventional treatment.