Simple Febrile Seizure: The Role of Serum Sodium Levels in Prediction of Seizure Recurrence during the First 24 Hours

ObjectiveSimple febrile seizures are the most common form of childhood seizures,often recurring within the first twenty-four hours. This study was conducted to determine the probable role of low serum  sodium levels in predicting seizure recurrence in febrile children.Materials & MethodsFor the study, 226 patients with seizures, aged between 6 months to 5 years, were divided into 3 groups of simple febrile seizure, simple febrile seizure with recurrence, and the control group of afebrile patients with seizures. For all groups, serum sodium levels were evaluated.ResultsThe mean age of our cases, predominantly male, was 22 months. No significant difference was observed in the serum sodium levels between the simple febrile seizure and the simple febrile seizure with recurrence groups (P value 0.465); however a significant relative hyponatremia was observed in the simple febrile seizure group as compared to the afebrile seizure control group (P value: 0.016).ConclusionBased on the findings, although serum sodium levels cannot assist in prediction of recurrence of simple febrile seizures in children, relative hyponatremia may predispose the febrile child to occurrence of simple febrile seizure.

Epilepsy Surgery in Children

ObjectiveIn the majority of patients with intractable epilepsy, seizures can be well controlled with appropriate medication. However, current estimates indicate that some of patients with epilepsy are refractory to all forms of medical therapy. The surgical treatment of intractable epilepsy in children has  evolved with advances in technical innovations. These medically intractable patients are candidates for surgical treatment in an attempt to achieve better seizure control. The definitive successful outcome of epilepsy surgery is a seizure-free state without significant neurological impairments.In this article, we will outline the essential elements of presurgical evaluation and describe a variety of therapeutic surgical options, and the related indications, techniques, results and complications of each procedure.

Novel potato plants with enhanced cadmium resistance and antioxidative defence generated after in vitro cell line selection

It is of interest to apply plant tissue culture to generate plants resistant to toxic effects of cadmium (Cd) on plant growth. Callus cultures were initiated from leaf explants of micropropagated potato plantlets (Solanum tuberosum L., cv. Iwa) for in vitro selection comprising 18 different Cd treatments varying in Cd exposure timing and duration. Plantlets regenerated from two different lines of Cd-selected calli, L9 and L11, were found to exhibit enhanced resistance to 218 μM Cd compared to control (source plantlets for leaf explants used to initiate callus cultures for Cd resistance). In response to 218 μM Cd, L11 plantlets had lower levels of lipid peroxidation and hydrogen peroxide than control and L9 plantlets. In addition, antioxidative enzyme activities in L11 were generally higher than control. L11 also had a higher level of proline than control

Heavy metals in suburban gardens and the implications of land-use change following a major earthquake

Numerous studies have shown that urban soils can contain elevated concentrations of heavy metals (HMs). Christchurch, New Zealand, is a relatively young city (150 years old) with a population of 390,000. Most soils in Christchurch are sub-urban, with food production in residential gardens a popular activity. Earthquakes in 2010 and 2011 have resulted in the re-zoning of 630 ha of Christchurch, with suggestions that some of this land could be used for community gardens. We aimed to determine the HM concentrations in a selection of suburban gardens in Christchurch as well as in soils identified as being at risk of HM contamination due to hazardous former land uses or nearby activities. Heavy metal concentrations in suburban Christchurch garden soils were higher than normal background soil concentrations. Some 46% of the urban garden samples had Pb concentrations higher than the residential land use national standard of 210 mg kg⁻¹, with the most contaminated soil containing 2615 mg kg⁻¹ Pb. Concentrations of As and Zn exceeded the residential land use national standards (20 mg kg⁻¹ As and 400 mg kg⁻¹ Zn) in 20% of the soils. Older neighbourhoods had significantly higher soil HM concentrations than younger neighbourhoods. Neighbourhoods developed pre-1950s had a mean Pb concentration of 282 mg kg⁻¹ in their garden soils. Soil HM concentrations should be key criteria when determining the future land use of former residential areas that have been demolished because of the earthquakes in 2010 and 2011. Redeveloping these areas as parklands or forests would result in less human HM exposure than agriculture or community gardens where food is produced and bare soil is exposed

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the underlying mechanism of inactivation of the MFSD2A transporter. We carried out detailed analysis of the clinical and neuroradiological features of a series of 27 MCPH15 cases, including eight new individuals from seven unrelated families. Genetic investigation was performed through exome sequencing (ES). Structural insights on the human Mfsd2a model and in-vitro biochemical assays were used to investigate the functional impact of the identified variants. All patients had primary microcephaly and severe developmental delay. Brain MRI showed variable degrees of white matter reduction, ventricular enlargement, callosal hypodysgenesis, and pontine and vermian hypoplasia. ES led to the identification of six novel biallelic MFSD2A variants (NG_053084.1, NM_032793.5: c.556+1G>A, c.748G>T; p.(Val250Phe), c.750_753del; p.(Cys251SerfsTer3), c.977G>A; p.(Arg326His), c.1386_1435del; p.(Gln462HisfsTer17), and c.1478C>T; p.(Pro493Leu)) and two recurrent variants (NM_032793.5: c.593C>T; p.(Thr198Met) and c.476C>T; p.(Thr159Met)). All these variants and the previously reported NM_032793.5: c.490C>A; p.(Pro164Thr) resulted in either reduced MFSD2A expression and/or transport activity. Our study further delineates the phenotypic spectrum of MCPH15, refining its clinical and neuroradiological characterization and supporting that MFSD2A deficiency causes early prenatal brain developmental disruption. We also show that poor MFSD2A expression despite normal transporter activity is a relevant pathomechanism in MCPH15

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation

Comparative proteomic analysis of spermatozoa isolated by swim-up or density gradient centrifugation

Abstract BACKGROUND: Reports about the morphologic and functional characteristics of spermatozoa prepared by density gradient centrifugation (DC) or swim-up (SU) have produced discordant results. We have performed a proteomic comparison of cells prepared by DC and SU providing a molecular insight into the differences between these two methods of sperm cell isolation. METHODS: Protein maps were obtained by 2-dimensional (2-D) separations consisting of isoelectrofocusing (IEF) from pI 3 to 11 followed by SDS-polyacrylamide gel electrophoresis. 2-D gels were stained with Sypro Ruby. Map images of DC and SU spermatozoa were compared using dedicated software. Intensities of a given spot were considered different between DC and SU when their group mean differed by >1.5-fold (p<0.05, Anova). RESULTS: No differences were observed for 853 spots, indicating a 98.7% similarity between DC and SU. Five spots were DC>SU and 1 was SU>DC. Proteins present in 3 of the differential spots could be identified. One DC>SU spot contained lactate dehydrogenase C and gamma-glutamylhydrolase, a second DC>SU spot contained fumarate hydratase and glyceraldehyde-3-phosphate dehydrogenase-2, and a SU>DC spot contained pyruvate kinase M1/M2. CONCLUSIONS: The differences in protein levels found on comparison of DC with SU spermatozoa indicate possible dissimilarities in their glycolytic metabolism and DNA methylation and suggest that DC cells may have a better capacitation potential