Circular DNA intermediates in the generation of large human segmental duplications.

BACKGROUND: Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments. RESULTS: Here we provide evidence of the participation of circular DNA intermediates in the single generation of some large human segmental duplications. A specific reversion of sequence order from A-B/C-D to B-A/D-C between duplicated segments and the presence of only microhomologies and short indels at the evolutionary breakpoints suggest a circularization of the donor ancestral locus and an accidental replicative interaction with the acceptor locus. CONCLUSIONS: This novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution.

Guillain-Barré syndrome following the 2009 pandemic monovalent and seasonal trivalent influenza vaccination campaigns in Spain from 2009 to 2011: outcomes from active surveillance by a neurologist network, and records from a country-wide hospital discharge database.

BACKGROUND: Studies have shown a slight excess risk in Guillain-Barré syndrome (GBS) incidence associated with A(H1N1)pdm09 vaccination campaign and seasonal trivalent influenza vaccine immunisations in 2009-2010. We aimed to assess the incidence of GBS as a potential adverse effect of A(H1N1)pdm09 vaccination. METHODS: A neurologist-led network, active at the neurology departments of ten general hospitals serving an adult population of 4.68 million, conducted GBS surveillance in Spain in 2009-2011. The network, established in 1996, carried out a retrospective and a prospective study to estimate monthly alarm thresholds in GBS incidence and tested them in 1998-1999 in a pilot study. Such incidence thresholds additionally to observation of GBS cases with immunisation antecedent in the 42 days prior to clinical onset were taken as alarm signals for 2009-2011, since November 2009 onwards. For purpose of surveillance, in 2009 we updated both the available centres and the populations served by the network. We also did a retrospective countrywide review of hospital-discharged patients having ICD-9-CM code 357.0 (acute infective polyneuritis) as their principal diagnosis from January 2009 to December 2011. RESULTS: Among 141 confirmed of 148 notified cases of GBS or Miller-Fisher syndrome, Brighton 1-2 criteria in 96 %, not a single patient was identified with clinical onset during the 42-day time interval following A(H1N1)pdm09 vaccination. In contrast, seven cases were seen during a similar period after seasonal campaigns. Monthly incidence figures did not, however, exceed the upper 95 % CI limit of expected incidence. A retrospective countrywide review of the registry of hospital-discharged patients having ICD-9-CM code 357.0 (acute infective polyneuritis) as their principal diagnosis did not suggest higher admission rates in critical months across the period December 2009-February 2010. CONCLUSIONS: Despite limited power and underlying reporting bias in 2010-2011, an increase in GBS incidence over background GBS, associated with A(H1N1)pdm09 monovalent or trivalent influenza immunisations, appears unlikely.

[Clinical characteristics of the neurological forms of Gaucher's disease]. / Características clínicas de las formas neurológicas de la enfermedad de Gaucher.

Gaucher's disease is the most prevalent disease of accumulation of glycosphingolipids. Neurological involvement is used to classify the different types of the disease. Type 1 affects approximately 90% of patients, and visceral manifestations and bone marrow, without affecting the nervous system. Type 2 is considered a severe form of disease with severe nervous system and death within two years. Type 3 is late, slowly progressive neurological symptoms and survival until the third decade. Besides these classical syndromes, the best knowledge of the disease related to the existence of national registries, the increased survival of patients resulting from replacement therapy, and demonstration of the behavior of glucocerebrosidase mutations as a risk factor of neurodegenerative diseases, has expanded the clinical phenotype and altered the traditional classification of the disease.

Dorsal intramedullary spinal epidermoid cysts: Report of two cases and review of literature.

Intramedullary epidermoid cysts of the spinal cord are rare tumors, especially those not associated with spinal dysraphism. About 50 cases have been reported in the literature. Of these, only seven cases have had magnetic resonance imaging (MRI) studies. We report two cases of spinal intramedullary epidermoid cysts with MR imaging. Both were not associated with spina bifida. In one patient, the tumor was located at D4 vertebral level; while in the other, within the conus medullaris. The clinical features, MRI characteristics and surgical treatment of intramedullary epidermoid cyst are presented with relevant review of the literature.

Respuesta: Supervivencia de la parada cardiorrespiratoria hospitalaria / Author’s reply: Survival from in-hospital cardiac arrest

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Características clínicas de las formas neurológicas de la enfermedad de Gaucher / Clinical characteristics of the neurological forms of Gaucher's disease

La enfermedad de Gaucher es la más frecuente de las enfermedades de acúmulo de glucoesfingolípidos. La afectación neurológica se utiliza para clasificar los distintos tipos de la enfermedad. El tipo 1 afecta aproximadamente al 90% de los pacientes, y presenta manifestaciones viscerales y de la médula ósea, sin afectar al sistema nervioso. El tipo 2 se considera una forma aguda de enfermedad con afectación grave del sistema nervioso y fallecimiento antes de los 2 años de edad. El tipo 3 es más tardío, con síntomas neurológicos lentamente progresivos y supervivencia hasta la tercera década. Junto a estos síndromes clásicos, el mejor conocimiento de la enfermedad relacionada con la existencia de registros nacionales, la mayor supervivencia de los pacientes derivada del tratamiento sustitutivo y la demostración del comportamiento de las mutaciones de glucocerebrosidasa como un factor de riesgo para enfermedades neurodegenerativas, ha ampliado el fenotipo clínico y alterado la clasificación clásica de la enfermedad (AU)

Gaucher’s disease is the most prevalent disease of accumulation of glycosphingolipids. Neurological involvement is used to classify the different types of the disease. Type 1 affects approximately 90% of patients, and visceral manifestations and bone marrow, without affecting the nervous system. Type 2 is considered a severe form of disease with severe nervous system and death within two years. Type 3 is late, slowly progressive neurological symptoms and survival until the third decade. Besides these classical syndromes, the best knowledge of the disease related to the existence of national registries, the increased survival of patients resulting from replacement therapy, and demonstration of the behavior of glucocerebrosidase mutations as a risk factor of neurodegenerative diseases, has expanded the clinical phenotype and altered the traditional classification of the disease (AU)

Características de la parada cardiorrespiratoria en el paciente con accidente cerebrovascular / No disponible

No disponible