Neurophysiological monitoring in neonatal abstinence syndrome from cocaine

Introduction. Neonatal abstinence syndrome (NAS) in a newborn is a result of the sudden discontinuation of exposure to psychotropic drugs abused by the mother during pregnancy. Since forty decades, the standardized Finnegan Neonatal Abstinence Scoring Tool (FNAST) documents the infant withdrawal, and initiate the appropriate treatment regimen, when elevated scored are reported. Whereas FNAST is successfully applied for opioids NAS, in case of other psychotropic drugs and especially cocaine, the tool is not always efficacious or predictive. Methods. Continuous v-Electroencephalography (vEEG) provides particularly useful information about brain cortical functioning and evaluation of background activity in normal newborns. vEEG allows to properly study and identify clinical manifestations as physiological motor paroxysms, that disappear from birth to infant age in correlation with the neurological development. Due to its feature to be a non-invasive tool continuous vEEG monitoring could be used to describe some clinical manifestations and assess if they can be correlated to possible injuries in critical neonates as those exposed in utero to psychoactive drugs presenting NAS. Results. An example for the potential use of such methodology is discussed in a case of NAS due to prenatal exposure to cocaine as a complementary tool for the evaluation of behavioural state and clinical and neurological signs in newborns in utero exposed to psychoactive drugs, excluding epileptic phenomena. Discussion. Video-EEG recording could be considered an important and objective tool that allows the evaluation of behavioural state and clinical and neurological signs in newborns in utero exposed to psychoactive drugs and the neurophysiological definition of signs and symptoms, which cannot be evaluated by FNAST such as startles and its variability during subsequent days after birth, subclinical seizures or brain injuries

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia-focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father. Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced

Hopkins’ syndrome

Hopkins’ syndrome is a rare disease that affects the anterior horn of the spinal cord after an acute episode of asthma in children with atopic disease. A viral infection or immunological suppression in atopic subjects might be the cause of occurrence of this syndrome, although the mechanism due to the etiopathogenesis of the disease still remains unknown.In general, this disease is manifested by a few days to a few weeks after an acute asthma attack, with flaccid paralysis of one or more limbs and in some cases residual muscle atrophy. The response to corticosteroid therapy is good and rare the possibility of recurrence

FATORES INTERVENIENTES NO ACOLHIMENTO À PESSOA COM SUSPEITA DE DOENÇA CEREBROVASCULAR

Objetivo: identificar fatores intervenientes no acolhimento à pessoa com suspeita de doença cerebrovascular. Método: pesquisa qualitativa com 16 enfermeiros atuantes no acolhimento de um hospital referência para doença cerebrovascular do estado da Bahia, Brasil. Para coleta de dados realizou-se Grupo Focal; para análise, o Planejamento Estratégico Situacional de Matus. Resultados: o acesso às tecnologias e a implantação do protocolo de classificação de risco foram fatores positivamente intervenientes no acolhimento. Contudo, déficits na infraestrutura hospitalar, inexistência de equipe de apoio na porta de entrada, ausência de capacitação profissional, desinformação dos acompanhantes e fragilidades na Rede de Atenção à Saúde comprometeram o acolhimento. Conclusão: os fatores intervenientes no acolhimento à pessoa com suspeita de doença cerebrovascular exigiam uma gestão estratégica com base no Planejamento Estratégico Situacional capaz de intervir na otimização da administração dos recursos disponíveis, tanto para investir e valorizar os pontos fortes quanto para priorizar a resolução dos pontos considerados comprometedores e agravantes.Descritores: Acidente Vascular Cerebral. Acolhimento. Planejamento Estratégico. Serviço Hospitalar de Enfermagem

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy

Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far. Methods: We report on a four-member family plus an additional unrelated boy affected by a BP3-BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4-BP5, BP3-BP5, and BP3-BP4) deletions is reported. Results: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13.1-q13.3 (29.213.402-32.510.863) x1. Conclusion: This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals

Zinc-bound metallothioneins and immune plasticity: lessons from very old mice and humans

The capacity of the remodelling immune responses during stress (named immune plasticity) is fundamental to reach successful ageing. We herein report two pivotal experimental models in order to demonstrate the relevance of the immune plasticity in ageing and successful ageing. These two experimental models will be compared with the capacity in remodelling the immune response in human centenarians. With regard to experimental models, one model is represented by the circadian rhythms of immune responses, the other one is the immune responses during partial hepatectomy/liver regeneration (pHx). The latter is suggestive because it mimics the immunosenescence and chronic inflammation 48 h after partial hepatectomy in the young through the continuous production of IL-6, which is the main cause of immune plasticity lack in ageing. The constant production of IL-6 leads to abnormal increments of zinc-bound Metallothionein (MT), which is in turn unable in zinc release in ageing. As a consequence, low zinc ion bioavailability appears for thymic and extrathymic immune efficiency, in particular of liver NKT cells bearing TCR γδ. The remodelling during the circadian cycle and during pHx of zinc-bound MT confers the immune plasticity of liver NKT γδ cells and NK cells in young and very old mice, not in old mice. With regard to human centenarians and their capacity in remodelling the immune response with respect to elderly, these exceptional individuals display low zinc-bound MT associated with: a) satisfactory intracellular zinc ion availability, b) more capacity in zinc release by MT, c) less inflammation due to low gene expression of IL-6 receptor (gp130), d) increased levels of IFN-gamma and number of NKT cell bearing TCR γδ. Moreover, some polymorphisms for MT tested in PBMCs from human donors are related to successful ageing. In conclusion, zinc-bound MT homeostasis is fundamental to confer the immune plasticity that is a condition "sine qua non" to achieve healthy ageing and longevity

Hopkins’ syndrome

Hopkins’ syndrome is a rare disease that affects the anterior horn of the spinal cord after an acute episode of asthma in children with atopic disease. A viral infection or immunological suppression in atopic subjects might be the cause of occurrence of this syndrome, although the mechanism due to the etiopathogenesis of the disease still remains unknown.In general, this disease is manifested by a few days to a few weeks after an acute asthma attack, with flaccid paralysis of one or more limbs and in some cases residual muscle atrophy. The response to corticosteroid therapy is good and rare the possibility of recurrence

Biological Drugs in Guillain-Barré Syndrome: An Update

Background: Guillain-Barré Syndrome (GBS) is currently considered the most common global cause of acute flaccid paralysis. Currently, standard therapy for Guillain-Barré Syndrome includes intravenous immunoglobulin or plasma exchange. Despite medical advances regarding these treatments, many treated patients do not reach full recovery. Therefore several biological agents have attracted the attentions from researchers during the last decades, and various studies have investigated their role in Guillain-Barré Syndrome. Objective: The present study aims to address emerging biological approaches to GBS while considering their efficiency and safety in treating the disease. Materials and Methods: An extensive electronic literature search was conducted by two researchers from April 2016 to July 2016. Original articles, clinical trials, systematic reviews (with or without meta-analysis) and case reports were selected. Titles and abstracts of papers were screened by reviewers to determine whether they met the eligibility criteria, and full texts of the selected articles were retrieved. Results: Herein authors focused on the literature data concerning emerging biological therapeutic agents, namely anti-C5 monoclonal antibody (Eculizumab), anti-C1q monoclonal antibody, anti-T cell monoclonal antibody, anti-CD2 monoclonal antibody, anti L-selectin monoclonal antibody, anti-CD20 monoclonal antibody (Rituximab), anti-CD52 monoclonal antibody (Alemtuzumab) and cytokine targets. By far, none of these agents have been approved for the treatment of GBS by FDA. Conclusion: Literature findings represented in current review herald promising results for using these biological targets. Current review represents a summary of what is already in regards and what progress is required to improve the immunotherapeutic approach of treating GBS via future studies

Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study

reserved8noBackground: This study aimed to show the impairment of autonomic cardiac conduction causing bradycardia and/or electrocardiographic alterations in children affected by spinal muscular atrophy type 1 and 2 (SMA 1 and 2). Methods: We included 25 spinal muscular atrophy patients, admitted from November 2016 to May 2017. All patients underwent an electrocardiographic examination and we studied PR and QRS intervals, P-waves and QRS amplitudes, and heart rate in spinal muscular atrophy patients compared to a control group. Results: In all patients, we found longer PRi and QRSi (P <.05), lower P-wave and QRS complex amplitudes (P <.01), and a decreased heart rate (P <.01) with respect to controls. When we divided our patients into SMA1 and SMA2 subgroups, we found that statistical differences were maintained for P-wave and QRS complex amplitudes and heart rate, but not for PRi and QRSi with respect to controls. Conclusion: We suggest the hypothesis of SMN expression on cardiac tissue condition and/or autonomic cardiac conduction.mixedFalsaperla, Raffaele; Vitaliti, Giovanna*; Collotta, Ausilia Desiree; Fiorillo, Chiara; Pulvirenti, Alfredo; Alaimo, Salvatore; Romano, Catia; Ruggieri, MartinoFalsaperla, Raffaele; Vitaliti, Giovanna; Collotta, Ausilia Desiree; Fiorillo, Chiara; Pulvirenti, Alfredo; Alaimo, Salvatore; Romano, Catia; Ruggieri, Martin