Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

We aimed to characterise the phenotype and perform genetic studies in a family of Roma/Gypsy ethnicity, affected by epilepsy. The mean age at onset of epilepsy was 9 years and seizures persisted into adulthood. Antecedent febrile convulsions were rare. Seizure semiology and EEG findings suggested mesial temporal lobe origin with no evidence of hippocampal sclerosis. Seizures frequently generalised. Family structure suggested autosomal-dominant inheritance with incomplete penetrance. Linkage analysis identified a single novel locus on 7p21.3, corresponding to the expected maximum in the family. Previously reported temporal lobe epilepsy (TLE) loci were definitely excluded. The minimal shared haplotype of 2.4cM (1.3Mb) was not observed in other affected families or controls from the same population. Three brain-expressed validated genes in the critical region represent potential candidates. We have identified an epilepsy syndrome with temporal lobe seizures commonly evolving to generalised convulsions. Linkage to 7p21.3 adds up to a total of five currently known FTLE loci.     

Sexual dimorphism in shape and size of the neurocranium

International Journal of Legal Medicine - Sex identification is a primary step in forensic analysis of skeletal remains. The accuracy of sex estimation methods greatly depends on the sexual...     

Machine learning approaches for sex estimation using cranial measurements

International Journal of Legal Medicine - The aim of the present study is to apply support vector machines (SVM) and artificial neural network (ANN) as sex classifiers and to generate useful...     

Does lenticulostriate vasculopathy predipose to ischemic brain infarct? A case report

Lenticulostriate vasculopathy (LSV) is a sonographic finding in infancy with obscure etiology and variable diagnostic and prognostic significance. Ischemic infarct in the territory of the lenticulostriate vessels after mild head trauma is a rare pathology. There are no publications on LSV followed by ischemic infarct. We present the case of an 8‐month‐old boy who suffered mild head trauma and developed an ischemic brain infarct in the territory of preexisting LSV. It is speculated that LSV might be a predisposing factor for ischemic brain infarct after mild head trauma in infants. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound, 2012     

The feeding of newborns with low birth weight with milk formula "Nenatal" and "Nutrilon-premium"

The aim of the study is to make retrospective analysis of 9 years experience in the feeding of praematuries and high risk newborn in that ward in First City Hospital-Sofia with formula milks "Nenatal" and "Nutrilon-premium". 721--42.4% from all babies in this period were feed with those formulas. With Nenatal only--11.8%, with Nutrilon-premium 88.2%. This the fact is due that all babies under 2000 gr. were fed with Nenatal, and after reaching 2000 gr.--with Nutrilon-premium. The results confirm that Nenatal is right formula for feeding of low and very low birth weight infant, due to its special content and qualities. The results from Nutrilon-premium illustrated that mean gain weight is the biggest in I grade of prematurity--33 grams, followed by matures--30 gr, after them II grade--29 gr., III grade--27 gr., IV grade--26 gr. As a conclusion we may say that mean gain weight for all groups is 29 grams. Consuming all gain weight of the babies feeding with Nutrilon-premium data appear that the biggest is in III of prematurity--1499 grams, followed by IV grade--1418 gr., I grade--1341 spama, II grade--1219 gr., and last matures--745 gr.     

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

Purpose:   The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome.
Methods:   Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroencephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplotype analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affymetrix SNP 5.0 array data.
Results:   We observed an early-onset partial epilepsy syndrome with seizure semiology strongly suggestive of temporal lobe epilepsy (TLE), with mild intellectual deficit co-occurring in a large proportion of the patients. Psychiatric morbidity was common in the extended pedigree but did not cosegregate with epilepsy. Linkage analysis definitively excluded previously reported loci, and identified a novel locus on 5q31.3-q32 with an logarithm of the odds (LOD) score of 3 corresponding to the expected maximum in this family.
Discussion:   The syndrome can be classified as familial temporal lobe epilepsy (FTLE) or possibly a new syndrome with mild intellectual deficit. The linked 5q region does not contain any ion channel–encoding genes and is thus likely to contribute new knowledge about epilepsy pathogenesis. Identification of the mutation in this family and in additional patients will define the full phenotypic spectrum.