258 research outputs found
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
An ultra-long new onset refractory status epilepticus: Winning the battle but losing the war?
New onset refractory status epilepticus (NORSE), is a rare and challenging condition occurring in previously healthy people. The etiology often remains undiscovered and is frequently associated with an unfavorable outcome. We report the electroclinical and neuroradiological evolution of an ultra-long case of NORSE of unknown etiology. A 38-year-old woman with a prodrome of fever, vomiting and diarrhea was admitted to our Intensive Care Unit for refractory convulsive status epilepticus (SE). Her past medical history was unremarkable. Extensive examinations were negative for potential viral, autoimmune and metabolic etiologies. Despite multiple therapeutical attempts with antiseizures medications, anesthetics and immunotherapy, seizures persisted. After nearly 6 months of enduring seizures, SE finally ceased and the patient gradually recovered to a minimum state of awareness. She was then able to communicate through one-word utterances and to understand simple tasks. At a three-years follow-up, she developed multifocal drug-resistant epilepsy, subcortical myoclonus and severe spastic quadraparesis, becoming completely dependent for activities of daily living. To our knowledge, this represents one of the longest cases of NORSE with final status resolution at this time. However, ultra-long SE in this case led to severe and disabling neurological sequelae. Future studies focused on disease modifying treatments for refractory SE are needed
The effect of quarantine due to Covid-19 pandemic on seizure frequency in 102 adult people with epilepsy from Apulia and Basilicata regions, Southern Italy
Objective: following the COVID-19 pandemic, a quarantine was imposed to all of regions Italy by 9th March until 3rd May 2020. We investigated the effect of COVID-19 infection and quarantine on seizure frequency in adult people with epilepsy (PwE) of Apulia and Basilicata regions, Southern Italy.
Methods: This is an observational, retrospective study based on prospective data collection of 102 successive PWE. The frequency of seizures was evaluated during pre-quarantine (January- February), quarantine (March-April), and post-quarantine period (May-June), while PwE were divided into A) cases responding to treatment with ≤ 1 seizure per year; B) cases responding to treatment with 2-5 seizure per year; C) cases with drug-resistant epilepsy with ≤ 4 seizures per month; D) cases with drug-resistant epilepsy with 5-10 seizures per month. PwE underwent several self-report questionnaires regarding therapeutic compliance, mood, stress and sleep during quarantine period.
Results: Approximately 50 % of PwE showed seizure frequency changes (22.55 % an increase and 27.45 % a reduction) during quarantine. Seizure frequency significantly (p < 0.05) increased in PwE responding to treatment with ≤ 1 seizure per year, while significantly (p < 0.05) reduced in PwE with drug-resistant epilepsy with 5-10 seizures per month. The data was not influenced by therapeutic adherence, sleep and depression. The analysis of anxiety showed a moderate level of anxiety in PwE responding to treatment with < 1 seizure per year, while moderate stress was perceived by all PwE. Seizure frequency changes were related to quarantine, but not to COVID-19 infection. In fact, unlike other regions of Italy, particularly Northern Italy, Apulia and Basilicata regions were less affected by COVID-19 infection, and almost all PwE recognized the quarantine as a stressful event. Emotional distress and anxiety due to social isolation, but also the relative reduction of triggers for epileptic seizures were the most important factors for changes in seizure frequency.
Conclusions: Our study adds to the growing concern that the indirect effects of COVID-19 pandemic will far outstrip the direct consequences of the infection
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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
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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 NFÎşB 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
VST: the telescope progress toward stars
The VST telescope is in an advanced stage of integration in Chile, after a period of work spent mainly on the active optics system, started in mid-2007. We present the results of the recent work on the primary and secondary mirror support systems and on the mirror cell auxiliary units
SARS-CoV-2 serological profile in healthcare professionals of a Southern Italy hospital
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the first coronavirus that has caused a pandemic. Assessing the prevalence of anti-SARS-CoV-2 in healthcare worker groups offers a unique opportunity to study the correlation between seroconversion and immunization because of their occupational exposure and a higher risk of contagion. The study enrolled 3242 asymptomatic employees of “Policlinico Riuniti”, Foggia. After the first screening, we collected sequential serum samples for up to 23 weeks from the same subjects. In order to perform a longitudinal follow-up study and get information about the titration of IgG levels, we analyzed data from subjects (33) with at least two consecutive serological IgG—positive tests; 62 (1.9%; 95% CI: 1.4–2.3) tested positive for at least one anti-SARS-CoV-2 antibody. The seroprevalence was lower in the high-risk group 1.4% (6/428; 95% CI: 0.5–2.6) vs. the intermediate-risk group 2.0% (55/2736; 95% CI: 1.5–2.5). Overall, within eight weeks, we detected a mean reduction of –17% in IgG levels. Our data suggest a reduction of about 9.27 AU/mL every week (R2 = 0.35, p = 0.0003). This study revealed the prevalence of SARS-CoV-2 antibodies among Foggia’s hospital healthcare staff (1.9%). Moreover, the IgG level reduction suggests that the serological response fades fast in asymptomatic infections
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
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