[Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep]. / Reorganización funcional del lenguaje en un caso de trastorno del desarrollo cortical con punta onda continua durante el sueño.

INTRODUCTION: Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. CASE REPORT: 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. TREATMENT: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. CONCLUSIONS: This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age.

Reorganización funcional del lenguaje en un caso de trastorno del desarrollo cortical con punta onda continua durante el sueño / Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep

Introducción. La dominancia del hemisferio cerebral izquierdo para el lenguaje es un hecho bien conocido. Sin embargo, esta lateralización típica puede verse alterada cuando dicho hemisferio izquierdo sufre una lesión significativa a una edad temprana. En ese caso la plasticidad neuronal permite que el lenguaje pueda ser transferido, total o parcialmente, a otra área dentro del mismo hemisferio o al hemisferio contra lateral. Caso clínico. Mujer de 21 años. Hemiparesia derecha congénita. Epilepsia focal con evolución a punta onda continua durante el sueño NREM a los 4 años. Resonancia magnética: trastorno del desarrollo cortical extenso en hemisferio izquierdo. Desde los 7 años control de las crisis y desaparición de la punta onda continua durante el sueño. Sigue tratamiento con ácido valproico 500 mg/día. Un estudio neuropsicológico mostró una buena preservación de las funciones lingüísticas básicas y signos de afectación del hemisferio no dominante. Estos resultados paradójicos, junto con la zurdería de la paciente, plantearon la posibilidad de una reorganización funcional del lenguaje hacia el hemisferio cerebral derecho. Un estudio mediante resonancia magnética funcional del lenguaje mostró una activación preferentemente derecha en áreas de Broca y Wernicke. Conclusiones. Este caso ilustra la potencialidad de reorganización funcional del cerebro, especialmente si, como establece el principio de Kennard, la lesión se produce a una edad temprana

Introduction. Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. Case report. 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. Treatment: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. Conclusions. This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age

Molecular analysis of the high stearic acid content in sunflower mutant CAS-14.

Increasing the stearic acid content to improve sunflower (Helianthus annuus L.) oil quality is a desirable breeding objective for food-processing applications. CAS-14 is a sunflower mutant line with a high stearic acid content in its seed oil (>35% vs. <6% in currently grown sunflower hybrids), which is controlled by the Es3 gene. However, the expression of the high stearic acid character in CAS-14 is strongly influenced by temperature during seed maturation and it is not uniform along the seed. The objectives of this study were (1) to identify PCR-based molecular markers linked to the Es3 gene from CAS-14, (2) to map this gene on the sunflower genetic map, and (3) to characterize the interaction between CAS-14 and CAS-3, a sunflower high stearic acid (about 26%) mutant line with the Es1 and Es2 genes determining this trait. Two F2 mapping populations were developed from crosses between CAS-14 and P21, a nuclear male sterile line with the Ms11 gene controlling this character, and between CAS-14 and CAS-3. One hundred and thirty-three individuals from P21xCAS-14, and 164 individuals from CAS-3xCAS-14 were phenotyped in F2 and F3 seed generations for fatty acid composition using gas-liquid chromatography, and they were then genotyped with microsatellite [simple sequence repeat (SSR)] and insertion-deletion (INDEL) markers. Bulk segregant analysis in the P21xCAS-14 population identified two markers on LG 8 putatively linked to Es3. A large linkage group was identified using additional markers mapping to LG 8. Es3 mapped to the distal half of LG 8 and was flanked by the SSR markers ORS243 and ORS1161 at genetic distances of 0.5, and 3.9 cM, respectively. The Ms11 gene was also mapped to LG 8 and genetic distance between this gene and Es3 was found to be 7.4 cM. In the CAS-3xCAS-14 population, two QTLs were identified on LG 1 and LG 8, which underlie the Es1 gene from CAS-3 and the Es3 gene from CAS-14, respectively. A significant epistatic interaction between these two QTLs was found. Results from this study provided a basis for determining CAS-14 efficient breeding strategies.

Quantitative trait loci for broomrape (Orobanche cumana Wallr.) resistance in sunflower.

Broomrape (Orobanche cumana Wallr.) is a root parasite of sunflower that is regarded as one of the most important constraints of sunflower production in the Mediterranean region. Breeding for resistance is the most effective method of control. P-96 is a sunflower line which shows dominant resistance to broomrape race E and recessive resistance to the very new race F. The objective of this study was to map and characterize quantitative trait loci (QTL) for resistance to race E and to race F of broomrape in P-96. A population from a cross between P-96 and the susceptible line P-21 was phenotyped for broomrape resistance in four experiments, two for race E and two for race F, by measuring different resistance parameters (resistance or susceptibility, number of broomrape per plant, and proportion of resistant plants per F(3) family). This population was also genotyped with microsatellite and RFLP markers. A linkage map comprising 103 marker loci distributed on 17 linkage groups was developed, and composite interval mapping analyses were performed. In total, five QTL ( or1.1, or3.1, or7.1 or13.1 and or13.2) for resistance to race E and six QTL ( or1.1, or4.1, or5.1, or13.1, or13.2 and or16.1) for resistance to race F of broomrape were detected on 7 of the 17 linkage groups. Phenotypic variance for race E resistance was mainly explained by the major QTL or3.1 associated to the resistance or susceptibility character ( R(2)=59%), while race F resistance was explained by QTL with a small to moderate effect ( R(2) from 15.0% to 38.7%), mainly associated with the number of broomrape per plant. Or3.1 was race E-specific, while or1.1, or13.1 and or13.2 of were non-race specific. Or13.1, and or13.2 were stable across the four experiments. Or3.1, and or7.1 were stable over the two race E experiments and or1.1 and or5.1 over the two race F experiments. The results from this study suggest that resistance to broomrape in sunflower is controlled by a combination of qualitative, race-specific resistance affecting the presence or absence of broomrape and a quantitative non-race specific resistance affecting their number.

Development of high-oleic, low-linolenic acid Ethiopian-mustard (Brassica carinata) germplasm.

Seed oil of current zero erucic-acid germplasm of Ethiopian mustard ( Brassica carinata A. Braun) is characterized by a low concentration of oleic acid and high concentrations of linoleic and linolenic acids. Sources of increased oleic-acid (HO) and reduced linolenic-acid (LL) concentration have been developed separately in high erucic-acid germplasm. The objectives of the present research were to study the inheritance of the HO and LL traits in crosses HO x LL, and to develop HOLL recombinants, both in high erucic-acid and zero erucic-acid backgrounds. The HO mutant N2-3591 (about 20% oleic acid compared to 9% in conventional high erucic-acid materials), was reciprocally crossed with the LL lines N2-4961 and HF-186 (both with about 5% linolenic acid compared to 12% in standard high erucic-acid materials). Increased oleic acid concentration of N2-3591 was found to be controlled by alleles at one locus (Ol), whereas three different loci for reduced linolenic-acid concentration (Ln, Ln1 and Ln2) were identified in N2-4961 and HF-186. Crosses between N2-3591 and N2-4961 generated HOLL recombinants where levels of increased oleic-acid and reduced linolenic-acid were similar to those of the parents. However, a transgressive segregation for oleic acid was observed in crosses between N2-3591 and HF-186, where F(2) seeds with up to 29.7% oleic acid were obtained, in comparison to an upper limit of 25.1% in the N2-3591 parent grown in the same environment. The transgressive increased oleic-acid was expressed in the F(3) generation and was attributed to the presence of a second locus, designated Ol2. The transgressive trait was transferred to the zero erucic-acid line 25X-1, resulting in a zero erucic-acid germplasm with very high oleic-acid concentration (83.9% compared to 32.9% in 25X-1) and low linolenic-acid concentration (5.0% compared to 16% in 25X-1). Additionally, two other lines exhibiting different stable levels of increased oleic-acid (70.7% and 79.5%, respectively) and reduced levels of linolenic-acid (7.5% and 8.7%, respectively) were isolated.

Transgressive segregation of erucic acid content in Brassica carinata A. Braun.

Two Ethiopian mustard ( Brassica carinata A. Braun) lines with low (about 10%) and zero erucic acid (C22:1) have been obtained. The low C22:1 mutant line L-2890 was isolated after a chemical-mutagen treatment of C-101 seeds (about 40% C22:1). The zero C22:1 line L-25X-1 was obtained by interspecific crossing. Our objective was to determine the genetic control of low and zero C22:1 contents in these lines and the relationship between the loci controlling these traits. Reciprocal crosses between L-2890, L-25X-1 and high C22:1 lines, and between L-2890 and L-25X-1, were made. The F(1), F(2) and BC(1) F(1) generations were obtained. No maternal or cytoplasmic effects for C22:1 content were observed in any of the crosses. The analysis of the fatty acid composition in the segregating populations from the crosses of L-2890 with the high C22:1 lines C-101 and L-1630 indicated that the segregation patterns fitted a model of two alleles at two loci, M1 and M2, with partial (near complete) dominance for high concentration. The segregation patterns in the cross of the zero C22:1 line L-25X-1 with the high C22:1 line L-1630, were explained on the basis of two genes, E1 and E2, with additive gene action. The F(1) and segregating generations of the crosses L-2890 x L-25X-1 showed a strong transgressive segregation with C22:1 values of up to 50.0%, four-fold higher than those of L-2890. The analyses of the F(2), BC(1)F(1) and F(3) generations indicated that the combination of alleles at four loci, M(1) and M(2) in L-2890 and E(1) and E(2) in L-25X-1, controlled the transgressive segregation for C22:1. The proposed genotypes (C22:1 content) for each parent were as follows: L-2890 (10% C22:1) = m(1) m(1) m(2) m(2) E(1) E(1) E(2) E(2); L-25X-1 (0% C22:1) = M(1) M(1) M(2) M(2) e(1) e(1) e(2) e(2); and C-101 (45% C22:1) = M(1) M(1) M(2) M(2) E(1) E(1) E(2) E(2).

Stearoyl-ACP and oleoyl-PC desaturase genes cosegregate with quantitative trait loci underlying high stearic and high oleic acid mutant phenotypes in sunflower.

The genetic control of the synthesis of stearic acid (C18:0) and oleic acid (C18:1) in the seed oil of sunflower was studied through candidate-gene and QTL analysis. Two F(2) mapping populations were developed using the high C18:0 mutant CAS-3 crossed to either HA-89 (standard, high linoleic fatty acid profile), or HAOL-9 (high C18:1 version of HA-89). A stearoyl-ACP desaturase locus (SAD17A), and an oleoyl-PC de-saturase locus (OLD7) were found to cosegregate with the previously described Es1 and Ol genes controlling the high C18:0 and the high C18:1 traits, respectively. Using linkage maps constructed from AFLP and RFLP markers, these loci mapped to LG1 (SAD17A) and to LG14 (OLD7) and were found to underlie the major QTLs affecting the concentrations of C18:0 and C18:1, explaining around 80% and 56% of the phenotypic variance of these fatty acids, respectively. These QTLs pleiotropically affected the levels of other primary fatty acids in the seed storage lipids. A minor QTL affecting both C18:0 and C18:1 levels was identified on LG8 in the HAOL-9xCAS-3 F(2). This QTL showed a significant epistatic interaction for C18:1 with the QTL at the OLD7 locus, and was hypothesized to be a modifier of Ol. Two additional minor C18:0 QTLs were also detected on LG7 and LG3 in the HA-89xCAS-3 and the HAOL-9xCAS-3 F(2) populations, respectively. No association between a mapped FatB thioesterase locus and fatty acid concentration was found. These results provide strong support about the role of fatty acid desaturase genes in determining fatty acid composition in the seed oil of sunflower.

Vertebral involvement in hyperphosphatemic tumoral calcinosis.

Hyperphosphatemic tumoral calcinosis (HTC) is an inherited metabolic disorder characterized by calcified soft tissue masses and hyperphosphatemia. Besides these typical features, a number of less common manifestations have been reported, all of them related to pathologic calcification of various tissues. We have investigated the case of a woman with hyperphosphatemia, recurrent episodes of lumbar pain, and a positive familial history of HTC. A bone scan showed markedly increased uptake in the lower lumbar spine. Magnetic resonance imaging showed pathological changes in L5 compatible with an inflammatory reaction and not suggestive of neoplastic process. There was no evidence of infection, trauma, malignancy, or other disease that could cause the lesion. We treated the patient with analgesics and NSAIDs and the pain remitted over a period of 1 week. In a follow-up magnetic resonance imaging 7 months later, the L5 lesion had disappeared completely. A computed tomography scan analysis with a bone window showed a sclerotic area at the L5 vertebral body. We believe that this patient was affected by the syndrome of HTC and that the inflammatory phenomena found in L5 are a manifestation of this disease.

Temperature Effects on the Disease Reactions of Sunflower to Infection by Orobanche cumana.

Three virulent populations (CU194, SE193, and SE194) of the parasitic plant Orobanche cu-mana were inoculated onto four lines (KA-41, J-8281, HA-89, and RHA-273) of sunflower (Helianthus annuus L.). Pots were transferred to growth chambers set at 15, 19, 23, and 27°C. Emergence of broomrape plants and infection incidence were determinants of disease reaction. All broomrape populations were pathogenic to the sunflower lines KA-41, HA-89, and RHA-273, although differences in virulence were found. At 15 to 23°C, the populations of broomrape infected these three sunflower lines, but a delay in emergence of broomrape was found at 15°C; whereas, at 27°C, the level of infection was restricted. Only population CU194 infected the resistant line J-8281, with infection occurring mainly at 23 and 27°C, but few broomrape plants emerged. Our results suggest that the effect of temperature on the host-parasite relationship is complex.

[Stereotactic target identification for neurosurgery of Parkinson disease]. / Identificación de las dianas estereotáxicas en la cirugía de la enfermedad de Parkinson.

INTRODUCTION: The use of applied neurophysiological methods to improve the stereotactic localization of devices in the deep human brain is a high and systematic technology in Parkinson's neurosurgery today. The available standard equipment for clinical neurophysiology practice may constitute the basic set for high tech functional neurosurgery. Free run and event related multiunit recording, naturalistic and electrical evoked potentials, and deep brain microstimulation responses are the basic methodological set to neurophysiological target localization. DEVELOPMENT AND CONCLUSIONS: This article is concerned with the topic: set out a high technology using low cost equipment. So our 41 cases experienced in pallidal and thalamic nucleolisis and thalamus and subthalamus DBS results suggest that the proposed equipment and methods are the required to assure accuracy and safety for target location.

Genetic control of high stearic acid content in the seed oil of the sunflower mutant CAS-3.

A sunflower mutant, CAS-3, with about 25% stearic acid (C18:0) in the seed oil was recently isolated after a chemical-mutagen treatment of RDF-1-532 seeds (8% C18:0). To study the inheritance of the high C18:0 content, CAS-3 was reciprocally crossed to RDF-1-532 and HA-89 (5% C18:0). Significant reciprocal-cross differences were found in one of the two crosses, indicating possible maternal effects. In the CAS-3 and RDF-1-532 crosses, the segregation patterns of the F(1), BC(1), and F(2) populations fitted a one-locus (designated Es1) model with two alleles (Es1, es1) and with partial dominance of low over high C18:0 content. Segregation patterns in the CAS-3 and HA-89 crosses indicated the presence of a second independent locus (designated Es2) with two alleles (Es2, es2), also with partial dominance of low over high C18:0 content. From these results, the proposed genotypes (C18:0 content) of each parent were as follows: CAS-3 (25.0% C18:0) =es1es1es2es2; RDF-1-532 (8.0% C18:0) =Es1Es1es2es2; and HA-89 (4.6% C18:0) =Es1Es1Es2Es2. The relationship between the proposed genotypes and their C18:0 content indicates that the Es1 locus has a greater effect on the C18:0 content than the Es2 locus. Apparently, the mutagenic treatment caused a mutation of Es1 to es1 in RDF-1-532.

[Fragile X syndrome and epilepsy]. / Síndrome X frágil y epilepsia.

Fragile X syndrome is the most frequent cause of genetically related mental retardation. Epilepsy, occurring in 20 to 40% of cases, is considered a minor sign. Age- and sex-dependent EEG patterns analogous to partial idiopathic epilepsy with rolandic paroxysms have been described. We analyze the clinical and electrical manifestations in a series of 10 patients between 4 and 60 years old; 3 suffered partial seizures developing into generalized seizures and 2 asymptomatic patients had EEG signs. In the remaining patients only slow background activity was observed. The EEG pattern and epileptic seizures were seen only in males. We believe that the association of sharp waves preceding rolandic paroxysm is a differential trait suggesting a structural alteration.