SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy.

A Novel Mutation in the Gene in a CGD Patient With Chronic Recurrent Pneumopathy.

Chronic granulomatous disease (CGD) is an inherited, genetically heterogeneous disease characterized by defective phagocytic cell microbicidal function, leading to increased susceptibility to bacterial and fungal infections. CGD is caused by mutations in components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, which is responsible for reactive oxygen species production during phagocytosis. Mutations in the neutrophil cytosolic factor 2 () gene account for <5% of all cases.

Seizure outcome after hippocampal deep brain stimulation in a prospective cohort of patients with refractory temporal lobe epilepsy.

Purpose: In this study, we present the results obtained from a series of patients with refractory temporal lobe epilepsy (r-TLE) who underwent hippocampal deep brain stimulation (Hip-DBS).

Methods: Nine consecutive adult patients were studied. Low-frequency and high-frequency stimulation was carried out immediately after the insertion of each electrode.

A prospective long-term study on the outcome after vagus nerve stimulation at maximally tolerated current intensity in a cohort of children with refractory secondary generalized epilepsy.

Introduction: We report the outcome after vagus nerve stimulation (VNS) in children with secondary generalized epilepsy.

Methods: Twenty-four consecutive children with Lennox-Gastaut or Lennox-like syndrome under the age of 12 years by the time of surgery, who were implanted with a vagus nerve stimulator and had at least two years of postimplantation follow-up, were prospectively included in the study. The generator was turned on using 0.

Long-term outcome after callosotomy or vagus nerve stimulation in consecutive prospective cohorts of children with Lennox-Gastaut or Lennox-like syndrome and non-specific MRI findings.

Purpose: There is currently no resective (potentially curative) surgical option that is useful in patients with Lennox-Gastaut syndrome. Palliative procedures such as callosotomy (Cx), vagus nerve stimulation (VNS) or deep brain stimulation have been offered. We compared the outcomes after Cx or VNS in two consecutive prospective cohorts of patients with generalised epilepsy.

Revisiting hydrocephalus as a model to study brain resilience.

Hydrocephalus is an entity which embraces a variety of diseases whose final result is the enlarged size of cerebral ventricular system, partially or completely. The physiopathology of hydrocephalus lies in the dynamics of circulation of cerebrospinal fluid (CSF). The consequent CSF stasis in hydrocephalus interferes with cerebral and ventricular system development.

Intraoperative neurophysiological responses in epileptic patients submitted to hippocampal and thalamic deep brain stimulation.

Purpose: Deep brain stimulation (DBS) has been used in an increasing frequency for treatment of refractory epilepsy. Acute deep brain macrostimulation intraoperative findings were sparsely published in the literature. We report on our intraoperative macrostimulation findings during thalamic and hippocampal DBS implantation.

Speech preservation using a non-linear paradigm for determination of the extent of neocortical resection in patients with mesial temporal sclerosis submitted to cortico-amygdalo-hippocampectomy (CAH).

Rationale: The rationale for using a non-linear (proportional) paradigm for determining the extent of the neocortex to be removed in temporal lobe resection was based on anatomical and intra-operative cortical mapping findings. We present our results regarding speech preservation in patients submitted to CAH using the central artery as an anatomical landmark for determining the posterior border of neocortical resection.

Methods: Two hundred and fifty consecutive right-handed patients with left unilateral mesial sclerosis were studied.