Study of nsLTPs in Lotus japonicus genome reveal a specific epidermal cell member (LjLTP10) regulated by drought stress in aerial organs with a putative role in cutin formation.

The cuticle is the first defense against pathogens and the second way water is lost in plants. Hydrophobic layers covering aerial plant organs from primary stages of development form cuticle, including major classes of aliphatic wax components and cutin. Extensive research has been conducted to understand cuticle formation mechanisms in plants. However, many questions remain unresolved in the transport of lipid components to form cuticle. Database studies of the Lotus japonicus genome have revealed the presence of 24 sequences classified as putative non-specific lipid transfer proteins (nsLTPs), which were classified in seven groups; four groups were selected because of their expression in aerial organs. LjLTP8 forms a cluster with DIR1 in Arabidopsis thaliana while LjLTP6, LjLTP9, and LjLTP10 were grouped as type I LTPs. In silico studies showed a high level of structural conservation, and substrate affinity studies revealed palmitoyl-CoA as the most likely ligand for these LTPs, although the Lyso-Myristoyl Phosphatidyl Choline, Lyso-myristoyl phosphatidyl glycerol, and Lyso-stearyl phosphatidyl choline ligands also showed a high affinity with the proteins. The LjLTP6 and LjLTP10 genes were expressed in both the stems and the leaves under normal conditions and were highly induced during drought stress. LjLTP10 was the most induced gene in shoots during drought. The gene was only expressed in the epidermal cells of stems, primordial leaves, and young leaflets. LjLTP10 was positively regulated by MeJA but repressed by abscisic acid (ABA), ethylene, and H2O2, while LjLTP6 was weakly induced by MeJA, repressed by H2O2, and not affected by ABA and ethylene. We suggest that LjLTP10 is involved in plant development of stem and leaf cuticle, but also in acclimation to tolerate drought stress in L. japonicus.

Development of a citrus genome-wide EST collection and cDNA microarray as resources for genomic studies.

A functional genomics project has been initiated to approach the molecular characterization of the main biological and agronomical traits of citrus. As a key part of this project, a citrus EST collection has been generated from 25 cDNA libraries covering different tissues, developmental stages and stress conditions. The collection includes a total of 22,635 high-quality ESTs, grouped in 11,836 putative unigenes, which represent at least one third of the estimated number of genes in the citrus genome. Functional annotation of unigenes which have Arabidopsis orthologues (68% of all unigenes) revealed gene representation in every major functional category, suggesting that a genome-wide EST collection was obtained. A Citrus clementina Hort. ex Tan. cv. Clemenules genomic library, that will contribute to further characterization of relevant genes, has also been constructed. To initiate the analysis of citrus transcriptome, we have developed a cDNA microarray containing 12,672 probes corresponding to 6875 putative unigenes of the collection. Technical characterization of the microarray showed high intra- and inter-array reproducibility, as well as a good range of sensitivity. We have also validated gene expression data achieved with this microarray through an independent technique such as RNA gel blot analysis.

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.

We studied two patients with ragged-red fibers and combined defects of the mitochondrial respiratory chain in their muscle biopsy. One had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, and harbored a T3258C transition in the tRNA(Leu(UUR)) gene. The other showed myopathy plus cardiomyopathy and had an A3280G mutation in the same gene. Both mutations were heteroplasmic, abundant in muscle of the patients, less abundant in blood, and still less abundant in blood from their maternal relatives. In both patients, single muscle fiber analysis revealed greater abundance of mutant genomes in ragged-red fibers than in normal fibers, supporting the pathogenicity of both mutations.

¿Es seguro el tratamiento con una dosis diaria de Depakine Crono? / Is treatment with a daily dose of Depakine Crono safe?

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Demencia talámica por infarto talámico izquierdo y en rodilla de cápsula interna derecha / Thalamic dementia due to infarct of the left thalamus and genum of the right internal capsule

Introducción y objetivos. La demencia talámica es la consecuencia clínica de la afectación funcional de ambos tálamos. Generalmente es secundaria a infartos talámicos paramediales bilaterales por afectación de pequeño vaso o por cardioembolismo. Presentamos un caso de demencia de instauración aguda con afectación talámica izquierda y de la rodilla de la cápsula interna derecha. Caso clínico. Varón de 33 años VIH positivo, categoría B2, ingresado por meningitis tuberculosa, que presenta un cuadro brusco de somnolencia seguido de importante bradipsiquia, cambios en la personalidad y un trastorno importante en la memoria explícita ejecutiva, sin trastornos práxicos, gnósicos ni del lenguaje asociados. La motilidad ocular era normal. Presentó una parálisis facial central izquierda con disociación inversa emotivovoluntaria, resto de pares craneales, normales. Hemiparesia izquierda con RCP extensor. El resto sin alteraciones. La RM cerebral fue compatible con infartos paramedial en tálamo izquierdo y en rodilla de la cápsula interna derecha. Conclusiones. La demencia talámica aparece generalmente en la afectación talámica paramediana bilateral. Existen casos de trastornos en la memoria ejecutiva secundarios a infartos en la rodilla de la cápsula interna por interrupción de las vías talamotemporales. Nuestro caso es una demencia talámica como expresión de una desconexión talamocortical y lesión paramedial talámica contralateral (AU)

[Idiopathic spinal cord herniation. Presentation of a new case and review of the literature]. / Herniación medular idiopática. Presentación de un nuevo caso y revisión de la literatura.

INTRODUCTION: Idiopathic herniation of the spinal cord is a rarely diagnosed condition. It is important since this cause of paraparesis is potentially curable if diagnosis is made early. Our aim is to report a new case, review the relevant literature, describe the radiological findings and consider the etiopathogenic findings. CLINICAL CASE: We report the case of a 56 year old man with increasing difficulty in walking attributed to stenosis of the lumbar spinal canal, which did not improve after laminectomy. On examination he had sensory and motor deficits compatible with the Brown-Séquard syndrome. Dorsal MR showed ventral displacement of the thoracic spinal cord with disappearance of the anterior subarachnoid space together with a posterior arachnoid cyst at the same site. A further operation was done at the same place and the cyst removed. However, it was impossible to free the spinal cord since there was severe spinal arachnoiditis. The patient made little improvement. CONCLUSIONS: Herniation of the spinal cord is a rarely diagnosed condition. After careful study of the literature it seems that all patients present in a similar manner. Clinically there is a disorder of gait compatible with the Brown-Séquard syndrome. On MR there is sudden ventral displacement of the thoracic spinal cord, associated in some cases with an arachnoid cyst. When surgery is effective there is great improvement, so this diagnosis should be remembered in all cases of progressive paraparesis.

Analysis of PEAM4, the pea AP1 functional homologue, supports a model for AP1-like genes controlling both floral meristem and floral organ identity in different plant species.

APETALA1 (AP1) and its homologue SQUAMOSA (SQUA) are key regulatory genes specifying floral meristem identity in the model plants Arabidopsis and Antirrhinum. Despite many similarities in their sequence, expression and functions, only AP1 appears to have the additional role of specifying sepal and petal identity. No true AP1/SQUA-functional homologues from any other plant species have been functionally studied in detail, therefore the question of how the different functions of AP1-like genes are conserved between species has not been addressed. We have isolated and characterized PEAM4, the AP1/SQUA-functional homologue from pea, a plant with a different floral morphology and inflorescence architecture to that of Arabidopsis or Antirrhinum. PEAM4 encodes for a polypeptide 76% identical to AP1, but lacks the C-terminal prenylation motif, common to AP1 and SQUA, that has been suggested to control the activity of AP1. Nevertheless, constitutive expression of PEAM4 caused early flowering in tobacco and Arabidopsis. In Arabidopsis, PEAM4 also caused inflorescence-to-flower transformations similar to constitutive AP1 expression, and was able to rescue the floral organ defects of the strong ap1-1 mutant. Our results suggest that the control of both floral meristem and floral organ identity by AP1 is not restricted to Arabidopsis, but is extended to species with diverse floral morphologies, such as pea.

Herniación medular idiopática. Presentación de un nuevo caso y revisión de la literatura / Idiopathic hernia of the spinal cord. A report of a new case and review of the literature

Introducción. La herniación medular idiopática es un proceso de diagnóstico infrecuente. Su importancia radica en que es una causa potencialmente reversible de paraparesia si el diagnóstico se obtiene de manera precoz. Nuestro objetivo es aportar un nuevo caso así como revisar la literatura previa, describir los hallazgos radiológicos y comentar las teorías etiopatogénicas. Caso clínico. Presentamos un varón de 56 años con una dificultad para la marcha progresiva atribuida a una estenosis de canal lumbar que no mejoró tras laminectomía. En la exploración se objetivó un déficit motor y sensitivo compatible con un síndrome de Brown-Séquard. Se realizó una RM dorsal que demostró un desplazamiento ventral de la médula torácica con desaparición del espacio subaracnoideo anterior así como un quiste aracnoideo posterior en esa misma localización. Se realizó una nueva intervención en la zona, escindiéndose el quiste pero fue imposible la liberación de la médula por una importante aracnoiditis espinal. La mejoría del enfermo fue escasa. Conclusiones. La herniación medular es una entidad de diagnóstico infrecuente. Tras una exhaustiva revisión de la literatura todos los casos tienen una presentación similar. Clínicamente consiste en un trastorno para la marcha progresivo compatible a la exploración con un síndrome de Brown-Séquard. En la RM se objetiva un brusco desplazamiento ventral de la médula a nivel torácico, en algunos casos con quiste aracnoideo posterior asociado. Cuando la cirugía es eficaz la mejoría clínica es muy importante, por lo que es un diagnóstico a tener en cuenta en toda paraparesia progresiva (AU)

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[Thalamic dementia due to infarct of the left thalamus and genum of the right internal capsule]. / Demencia talámica por infarto talámico izquierdo y en rodilla de cápsula interna derecha.

INTRODUCTION AND OBJECTIVES: Thalamic dementia is the clinical consequence of a disorder of both thalami. It is generally secondary to bilateral paramedial thalamic infarcts due to disorders of small blood vessels or cardioembolism. We report a case of dementia of acute onset involving the left thalamus and the genum of the right internal capsule. CLINICAL CASE: A 33 year old man, HIV positive, category B2, admitted to hospital for tuberculous meningitis presented with the acute onset of somnolence, followed by marked bradypsychism, personality changes, marked disorder of executive explicit memory without associated praxic, gnosic or language disorders. Ocular motility remained normal. There was left central facial paralysis with inverse emotive voluntary dissociation. The other cranial nerves were normal. There was left hemiparesia with extensor plantar reflex. No other alterations. Cerebral MR imaging was compatible with paramedial infarcts of the left thalamus and genum of the right internal capsule. CONCLUSIONS: Thalamic dementia generally occurs in bilateral paramedian thalamic disorders. There are cases of disorders of executive memory secondary to infarcts of the genum of the internal capsule due to interruption of the thalamotemporal pathways and a contralateral paramedial thalamic lesion.

[Lhermitte's sign in three oncological patients]. / Fenómeno de Lhermitte en tres pacientes oncológicos.

INTRODUCTION: Lhermitte's sign was first described by Pierre Marie and Chatelin in 1917. Lhermitte published his report in 1920 and reviewed this in 1924. This phenomenon is characterized by the occurrence of an electric shock-like sensation going along the spine in a cervico-caudal direction with flexion of the neck, and may also be felt in the upper and lower limbs. Clinical cases. Case 1. A 49 year-old woman diagnosed as having breast cancer and being treated with cisplatin presented with Lhermitte's sign. On physical examination the osteotendinous reflexes were absent but the abdominal cutaneous reflexes were present. There was reduced sensitivity to vibration. Case 2. An 80 year-old man, previously operated on for adenocarcinoma of the colon, without further treatment, presented with progressive weakness of all four limbs and Lhermitte's syndrome. On examination there was obvious weakness of all four limbs, with the sensory level at C3. A cervical MR scan showed a metastasis in the vertebral body of C3 with epidural involvement and compression of the spinal cord. Case 3. A 54 year-old man was being treated by radiotherapy for cancer of the larynx. He presented at the onset of Lhermitte's sign but MR and physical examination were normal. CONCLUSION: Lhermitte's sign is non-specific, although in oncological patients a detailed clinical history and examination should be done seeking data regarding chemotherapy, radiotherapy and spinal compression.

Serum levels of coenzyme Q10 in patients with Parkinson's disease.

We compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio in 33 patients with Parkinson's disease (PD) and 31 matched controls. The mean serum coenzyme Q10 levels did not differ significantly between the 2 study groups. Coenzyme Q10 levels were not correlated with age, age at onset, duration of the disease, scores of the Unified Parkinson Disease Rating Scale (UPDRS) or the Hoehn and Yahr staging in the PD group. The coenzyme Q10/cholesterol ratio had a significant correlation (although low) with duration of the disease (r = -0.46), total UPDRS score (r = -0.39), motor examination of the UPDRS (r = 0.45). These values were not influenced significantly by therapy with levodopa or dopamine agonists. The normality of serum coenzyme Q10 and coenzyme Q10/cholesterol ratio suggest that these values are not related with the risk for PD.

Serum levels of coenzyme Q10 in patients with Alzheimer's disease.

We compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio in 44 patients with Alzheimer's disease (AD), 17 patients with vascular dementia (VD), and 21 matched controls. The mean serum coenzyme Q10 and cholesterol levels and the coenzyme Q10/cholesterol ratio of patients with AD or VD did not differ significantly from those of controls. Coenzyme Q10 levels and coenzyme Q10/cholesterol ratio of AD or VD patients were not correlated with age, age at onset, duration of the disease or scores of the MiniMental State Examination. These results suggest that these values are not related with the risk for AD or VD.

Fenómeno de lhermitte en tres pacientes oncológicos / Lhermitte's sign in three oncological patients

Introducción. El fenómeno de Lhermitte fue descrito por primera vez por Pierre Marie y Chatelin en 1917. Lhermitte realiza su comunicación en 1920 y la reanaliza en 1924. Este fenómeno se caracteriza por la aparición de una sensación de corriente eléctrica que recorre en sentido cervicocaudal la columna vertebral con la flexión del cuello, y puede proyectarse también por las extremidades superiores e inferiores. Casos clínicos. Caso 1. Mujer de 49 años diagnosticada de cáncer de mama en tratamiento con cisplatino que presenta un fenómeno de Lhermitte. En la exploración se halló ausencia de reflejos osteotendinosos con cutáneo-abdominales presentes. La sensibilidad vibratoria estaba disminuida. Caso 2. Varón de 80 años intervenido de adenocarcinoma de colon sin otro tratamiento posterior, que presenta cuadro progresivo de pérdida de fuerza en las cuatro extremidades y fenómeno de Lhermitte. En la exploración se observa pérdida de fuerza en las cuatro extremidades, con nivel sensitivo C3.Una RM cervical confirmó metástasis en el cuerpo vertebral de C3 con afectación epidural y compresión medular. Caso 3. Varón de 54 años que recibió radioterapia por un carcinoma de laringe. Comienza con fenómeno de Lhermitte, y la RM y la exploración fueron normales. Conclusiones. El fenómeno de Lhermitte es inespecífico, aunque en los pacientes oncológicos debemos realizar una exploración e historia clínica detallada en busca de quimioterápicos, radioterapia y datos de compresión medular (AU)

Serum levels of coenzyme Q10 in patients with multiple sclerosis.

To elucidate whether serum coenzyme Q10 levels are related with the risk for multiple sclerosis (MS) or are a marker for the activity of the disease, we compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio, in 31 patients with MS (during exacerbations) and 19 matched controls using a high performance liquid chromatography technique. The mean serum coenzyme Q10 levels and the coenzyme Q10/cholesterol ratio did not differ significantly between the 2 study groups. The values did not correlate with age, age at onset, and duration of the disease. These results suggest that serum coenzyme Q10 concentrations are unrelated with the risk for MS and are not a useful marker of activity of the disease.