IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES

The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases

Increased survival among lower-birthweight children in Southern Brazil = Aumento en la sobrevida de ninos de grupos de peso bajo al nacer en Santa Catarina, Sur de Brasil

Article published in English and PortugueseOBJECTIVE: To analyze factors associated with survival in the first year of life. METHODS: A historical cohort study was carried out using data from live birth and mortality information systems, including 90,153 live birth records and 1,053 records of death before age one year in hospitals in the cities of Florianópolis and São José, Southern Brazil, between 1999 and 2006. Survival curves were estimated (Kaplan-Meier) for birthweight categories, date of birth (four-year periods), and type of maternity. Proportional hazard ratios for mortality were calculated using Cox regression. RESULTS: Survival (98.8%) did not change among all birthweight categories, but increased among babies born weighing under 2,000 g (77.7% to 81.2%, p=0.029), between 1999-2002 and 2003-2006. There was an increase in the proportion of babies under 2,000 g in the second period. Type of hospital was significantly associated with probability of survival. CONCLUSIONS: Probability of survival is higher among babies born in private hospitals and in the teaching hospital in all birthweight categories combined and for babies born weighing under 2,000 g. Survival among the latter increased in the most recent period. However, the infant mortality rate did not change between the two periods given the increase in the prevalence of children with ligther birth weight. = OBJETIVO: Analizar factores asociados con la sobrevida en el primer año de vida. MÉTODOS: Estudio de cohorte histórica realizado con datos de los sistemas de información de nacimiento y mortalidad sobre 90.153 registros de nacidos vivos y 1.053 registros de óbitos de menores de un año en hospitales de Florianópolis y Sao José, Sur de Brasil, entre 1999 y 2006. Fueron estimadas curvas de sobrevida (Kaplan-Meier) para grupos de peso al nacer, período (cuatrienios) y tipo de maternidad. Se calcularon tasas de riesgos proporcionales para óbitos utilizando regresión de Cox. RESULTADOS: La sobrevida (98,8%) no se modificó entre los grupos de peso, pero aumentó en los grupos de menos de 2.000g (77,7% para 81,2%, p=0,029) entre los cuatrienios de 1999 a 2002 y 2003 a 2006. Hubo aumento de menores de 2.000g en el segundo cuatrienio estudiado. El tipo de hospital fue asociado significativamente con la probabilidad de sobrevida. CONCLUSIONES: Hay mayor probabilidad de sobrevida entre nacidos en hospitales privados y en el hospital de enseñanza para todos los grupos de peso y para el grupo de menos de 2000 g. La sobrevida de los grupos de peso por debajo de 2000g aumentó en el cuadrienio más reciente. Mientras, el coeficiente de mortalidad infantil no disminuyó en ese período, ya que la prevalencia de los nacidos en grupos de menor peso también aumentó.Carlos Eduardo Andrade Pinheiro, Marco Aurélio Peres, Eleonora D' Ors

Obstetric care models in the Southern Region of Brazil and associated factors

The study sought to identify obstetric care models for low-risk pregnancies in the Southern Region of Brazil and to estimate factors associated with these models and maternal and neonatal outcomes. This is a cross-sectional, hospital-based study using data from the Birth in Brazil survey regarding puerperae and newborns. We identified 2,668 low-risk pregnant women. We carried out an exploratory analysis using the proportion of practices per hospital, among them inducing labor, presence of a companion, cesarean section and skin-to-skin contact, in order to obtain the care models we called Best Practice, Interventionist I and Interventionist II. We then carried out an inferential analysis of the associated characteristics. Results show that access to public or private funding, cultural factors and actions taken by health professional are associated with the care models. Public care had different contexts, one based on public policies and evidence-based practices; and another, that suggests the intentionality of vaginal delivery without considering humanization principles. Private care, on the other hand, is standardized and centered on the medical professional, with higher intervention levels. We conclude there is a predominance of interventionist obstetric care models in the Southern Region of Brazil, a type of care that goes against the best evidence, and that women who receive care in public hospitals have greater chances of benefiting from good practices

Prevalence of spontaneous, induced labour or planned caesarean section and factors associated with caesarean scetion and factors associated with caesarian section in low-risk women in southern Brazil

Objective This study aimed to examine the prevalence of spontaneous labour, induced labour and planned caesarean section in low-risk women; to identify the contribution of each group to the overall caesarean section rate; and to estimate factors associated with caesarean section in low-risk women according to spontaneous labour, induced labour and planned caesarean section. Design Cross-sectional hospital-based study of postpartum women and newborns, using data from the survey Birth in Brazil, Southern region. In the sample of 2,668 low-risk women, a descriptive analysis was undertaken and a Multinomial Logistic Regression model was applied to verify associations among caesarean section and spontaneous labour, induced labour and planned caesarean section in comparison with vaginal birth. Measurements and Findings The results showed the prevalence of spontaneous labour (48.0%), induced labour (14.0%) and planned caesarean sections (38.0%); these frequencies contributed to an overall caesarean section rate of 50.5%. Obstetric characteristics like previous vaginal birth or previous caesarean section were differentially associated with caesarean section, independently of the labour. Caesarean section without labour was significantly associated with age ≥ 35 years (ORadj 5.45 95%CI 3.16-9.39), economic class A and B (ORadj 3.10 95%CI 1.92-4.99), pregnancy between 37 and 38 weeks (ORadj 1.65 95%CI 1.22-2.24), same obstetrician in prenatal and childbirth (ORadj 13.83 95%CI 8.85-21.61) and private payment source at birth (ORadj 11.50 95%CI 6.64-19.93). Key conclusion For low-risk women in Southern Brazil, the results identify high planned caesarean section rates, not associated with socioeconomic, obstetric, institutional or prenatal factors that justify these rates

Polymerogenic neuroserpin causes mitochondrial alterations and activates NFκB but not the UPR in a neuronal model of neurodegeneration FENIB

The neurodegenerative condition FENIB (familiar encephalopathy with neuroserpin inclusion bodies) is caused by heterozygous expression of polymerogenic mutant neuroserpin (NS), with polymer deposition within the endoplasmic reticulum (ER) of neurons. We generated transgenic neural progenitor cells (NPCs) from mouse fetal cerebral cortex stably expressing either the control protein GFP or human wild type, polymerogenic G392E or truncated (delta) NS. This cellular model makes it possible to study the toxicity of polymerogenic NS in the appropriated cell type by in vitro differentiation to neurons. Our previous work showed that expression of G392E NS in differentiated NPCs induced an adaptive response through the upregulation of several genes involved in the defence against oxidative stress, and that pharmacological reduction of the antioxidant defences by drug treatments rendered G392E NS neurons more susceptible to apoptosis than control neurons. In this study, we assessed mitochondrial distribution and found a higher percentage of perinuclear localisation in G392E NS neurons, particularly in those containing polymers, a phenotype that was enhanced by glutathione chelation and rescued by antioxidant molecules. Mitochondrial membrane potential and contact sites between mitochondria and the ER were reduced in neurons expressing the G392E mutation. These alterations were associated with a pattern of ER stress that involved the ER overload response but not the unfolded protein response. Our results suggest that intracellular accumulation of NS polymers affects the interaction between the ER and mitochondria, causing mitochondrial alterations that contribute to the neuronal degeneration seen in FENIB patients

Practitioner compression force variation in mammography : a 6 year study

The application of breast compression in mammography may be more heavily influenced by the practitioner rather than the client. This could affect image quality and will affect client experience. This study builds on previous research to establish if mammography practitioners vary in the compression force they apply over a six year period. This longitudinal study assessed 3 consecutive analogue screens of 500 clients within one screening centre in the UK. Recorded data included: practitioner code, applied pressure (daN), breast thickness (mm), BI-RADS® density category and breast dose. Exclusion criteria included: previous breast surgery, previous/ongoing assessment, breast implants. 344 met inclusion criteria. Data analysis: assessed variation of compression force (daN) and breast thickness (mm) over 3 sequential screens to determine whether compression force and breast thickness were affected by practitioner variations. Compression force over the 3 screens varied significantly; variation was highly dependent upon the practitioner who performed the mammogram. Significant thickness and compression force differences over the 3 screens were noted for the same client (<0.0001). The amount of compression force applied was highly dependent upon the practitioner. Practitioners fell into one of three practitioner compression groups by their compression force mean values; high (mean 12.6daN), intermediate (mean 8.9daN) and low (mean 6.7daN). For the same client, when the same practitioner performed the 3 screens, maximum compression force variations were low and not significantly different (p>0.31). When practitioners from different compression force groups performed 3 screens, maximum compression force variations were higher and significantly different (p<0.0001). The amount of compression force used is highly dependent upon practitioner rather than client. This has implications for radiation dose, patient experience and image quality consistency

Asociación entre tiempo en actividad física, sedentarismo y síndrome metabólico en el adulto mayor

El síndrome metabólico es especialmente prevalente en adultos mayores de 60 años, lo que aumenta el riesgo de enfermedad cardiovascular y de mortalidad disminuyendo en 5 años la tasa de supervivencia. El objetivo de este estudio fue examinar, teóricamente, cómo la reasignación del tiempo entre la intensidad de diferentes categorías mutuamente excluyentes de actividad física y tiempo en comportamiento sedentario, se asocia con el síndrome metabólico en adultos mayores.N

Kidins220/ARMS interacts with Pdzrn3, a protein containing multiple binding domains.

We report the identification of a novel partner of Kidins220/ARMS (Kinase D-interacting substrate of 220 kDa/Ankyrin Repeat-rich Membrane Spanning) an adaptor of neurotrophin receptors playing crucial roles during neurogenesis. Screening a phage display library of brain cDNA products we found that D. rerio Pdzrn3, a protein containing RING-finger and PDZ-domains, interacts with Kidins220/ARMS through its first PDZ-domain. Both zebrafish proteins share high homology with the corresponding mammalian proteins and both genes are developmentally expressed in neural districts where early neurogenesis occurs. The interaction was also confirmed by biochemical assays and by co-localization at the tips of growing neurites of PC12 cells induced with nerve growth factor

SOXS: a wide band spectrograph to follow up transients

SOXS (Son Of X-Shooter) will be a spectrograph for the ESO NTT telescope capable to cover the optical and NIR bands, based on the heritage of the X-Shooter at the ESO-VLT. SOXS will be built and run by an international consortium, carrying out rapid and longer term Target of Opportunity requests on a variety of astronomical objects. SOXS will observe all kind of transient and variable sources from different surveys. These will be a mixture of fast alerts (e.g. gamma-ray bursts, gravitational waves, neutrino events), mid-term alerts (e.g. supernovae, X-ray transients), fixed time events (e.g. close-by passage of minor bodies). While the focus is on transients and variables, still there is a wide range of other astrophysical targets and science topics that will benefit from SOXS. The design foresees a spectrograph with a Resolution-Slit product ~ 4500, capable of simultaneously observing over the entire band the complete spectral range from the U- to the H-band. The limiting magnitude of R~20 (1 hr at S/N~10) is suited to study transients identified from on-going imaging surveys. Light imaging capabilities in the optical band (grizy) are also envisaged to allow for multi-band photometry of the faintest transients. This paper outlines the status of the project, now in Final Design Phase.Comment: 12 pages, 14 figures, to be published in SPIE Proceedings 1070