Care of pharmaco-resistant absence seizures in childhood.

In childhood absence epilepsy, pharmaco-resistance occurs in 20-30% of patients. In that situation, glucose transporter type 1 deficiency has to be ruled out, especially if absences started before the age of four years and if neurological signs are present. If ethosuximide, valproate and lamotrigine have failed in monotherapy or in association, there are currently no valuable therapeutic options. The same rules apply for epilepsy with myoclonic absences. Importantly, arguments supporting that making the patient seizure-free will improve eventual associated cognitive deficits such as attention deficit are very weak. Therefore, limiting the cognitive side effects of the anti-epileptic drugs has always to be a priority when faced with typical refractory absences in childhood. In epilepsy with eyelid myoclonia, the majority of patients are pharmaco-resistant. However, absence seizures, if present, tend to be very brief, and seizures are limited in many patients to eyelid myoclonia that eventually do not affect their quality of life and are well attenuated by wearing blue lenses. Atypical absences occurring in the course a developmental and/or epileptic encephalopathy are often pharmaco-resistant. In that situation, characterizing the type of epilepsy syndrome and searching for a specific genetic or structural etiology are needed to offer the best therapeutic options to the patient.

Long-term outcome of developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies are conditions where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Usually they have multiple etiologies. Therefore, long-term outcome is related to both etiology-related factors and epilepsy-related factors-age at onset of epilepsy, type(s) of seizure(s), type of electroencephalographic abnormalities, duration of the epileptic disorder. This paper focuses on long-term outcome of six developmental and epileptic encephalopathies with onset from the neonatal period to childhood: early epileptic encephalopathy with suppression bursts, West syndrome, Dravet syndrome, Lennox-Gastaut syndrome, epilepsy with myoclonic atonic seizures and epileptic encephalopathy with continuous spike and waves during slow-wave sleep including Landau-Kleffner syndrome. For each syndrome, definition, main etiologies if multiple, and long-term outcome are discussed.

Systematic review of international clinical guidelines for the promotion of physical activity for the primary prevention of cardiovascular diseases.

BACKGROUND: Cardiovascular diseases are the world's leading cause of morbidity and mortality. An active lifestyle is one of the cornerstones in the primary prevention of cardiovascular disease. An initial step in guiding primary prevention programs is to refer to clinical guidelines. We aimed to systematically review clinical practice guidelines on primary prevention of cardiovascular disease and their recommendations regarding physical activity. METHODS: We systematically searched Trip Medical Database, PubMed and Guidelines International Network from January 2012 up to December 2020 using the following search strings: 'cardiovascular disease', 'prevention', combined with specific cardiovascular disease risk factors. The identified records were screened for relevance and content. We methodologically assessed the selected guidelines using the AGREE II tool. Recommendations were summarized using a consensus-developed extraction form. RESULTS: After screening, 27 clinical practice guidelines were included, all of which were developed in Western countries and showed consistent rigor of development. Guidelines were consistent about the benefit of regular, moderate-intensity, aerobic physical activity. However, recommendations on strategies to achieve and sustain behavior change varied. Multicomponent interventions, comprising education, counseling and self-management support, are recommended to be delivered by various providers in primary health care or community settings. Guidelines advise to embed patient-centered care and behavioral change techniques in prevention programs. CONCLUSIONS: Current clinical practice guidelines recommend similar PA lifestyle advice and propose various delivery models to be considered in the design of such interventions. Guidelines identify a gap in evidence on the implementation of these recommendations into practice.

[Secondary surgical and medical treatment of scars]. / Traitement Secondaire chirurgical et médical des cicatrices.

The authors, through their experience, take stock of current secondary management of scars whether they are pathological (hypertrophic, cheloid) or dystrophic (enlarged, hypo- or hyper-pigmented, adherent) by presenting surgical or medical solutions.

[Clinical analysis before surgery in facial and neck rejuvenation]. / Analyse clinique avant chirurgie de rajeunissement cervico-facial.

The first step to determine a medical or surgical intervention is the clinical exam. The clinical exam is the paramount step to provide a treatment plan that can be modified and individualized accounting the patient preferences. During the consultation for facial rejuvenation, attention should be paid to understand the patient's motivation and expectations. A thorough understanding of the anatomy and the natural history of ageing will facilitate the analysis of the face. Not only the degree of ptosis but also the degree of volume loss will need to be assessed, as well as the influence of the facial muscles, the skin quality, and the different causes of rythids. The comprehensive age-related anatomical changes are often perceived and described as tiredness or sadness. Patients very commonly only point out a single anatomical region. During the consultation, the surgeon should provide the patient with the information of the comprehensive interplay of the different anatomical regions and their individual ageing process. Obtaining a harmonious, natural appearing outcome is the result of excellent surgical skills and applied knowledge. The clinical exam should also find out traps and technical difficulties. Although standardized photographs allow a static evaluation of one's result, video may deliver additional information about the postoperative result, and may contribute to the understanding of the technique used. Spending the additional time by performing a thorough facial analysis and preoperative planning is well-invested time. Having a good understanding of the possible surgical improvements and limitations will be beneficial for both, the patient and the surgeon. Managing the expectations of the patient and careful preoperative planning will increase patient's satisfaction. At the same time, the surgeon will able to critically assess his/her own result and taking pleasure improving their own technique.

[Should we drain after pre-pectoral breast implants? Analysis of a cohort of 400 patients operated for breast augmentation with pre-pectoral silicone implants]. / Faut-il drainer après la mise en place d'implants mammaires en position pré-pectorale? Analyse d'une cohorte de 400 patientes opérées pour augmentation mammaire par implant en gel de silicone en position pré-pectorale.

AIM OF THE STUDY: During breast augmentation, surgical drainage remains a source of debate. The objective of the study was to determine the interest of the drainage after pre-pectoral breast implants pre, analyzing the risk of hematoma and capsular contracture. PATIENTS AND METHODS: We retrospectively analyzed a cohort of 400 patients who underwent a first aesthetic breast augmentation by pre-pectoral silicone gel implants. Patients were followed with a maximum of nine years and a minimum of one year. RESULTS: The mean age of patients was 37 years (18-64). Ninety-two percent (368 cases) had no drainage (patients "low risk of bleeding") and 8% (32 cases) underwent a bilateral drainage (patients "high risk of bleeding"). We recorded 1.75% hematoma (7 cases) and 2% of capsular contracture (8 cases). CONCLUSION: We believe that the drainage should not be systematic for pre-pectoral breast implants. In patients at high risk of bleeding that we drained, it does not prevent the occurrence of a possible hematoma. In patients at low risk of bleeding that we have not drained, we do not observed more hematoma or capsular contracture than data published for drained patients.

[Systematic follow-up of infants born preterm]. / Le suivi systématique des grands prématurés.

Advances in pediatric medicine have enabled a decrease in perinatal mortality, especially among infants born preterm (< 32 weeks gestational age) or low birth weight (< 1.500 g). However, this population is exposed to a greater risk of neurological sequelae. This is why the creation of specific follow-up program are mandatory to screen at-risk children to offer them a support able to minimize the impact of prematurity on their future neurological development.

Work stress and burnout among emergency physicians: a systematic review of last 10 years of research.

AIM OF THE STUDY: First, to provide a synthesis and analysis of available scientific literature regarding the level of work stress and burnout among emergency physicians. Second, to identify the effect of the specific work situation-related factors. METHODS: A systematic search was performed in NCBI PubMed and Embase. Comparative primary studies, both systematic review and cross-sectional, quantifying burnout in emergency physicians were included. Only studies published between 2011 and 2022 were retained. Synonym sets were compiled for the search key for 'burnout & stress', 'emergency', 'physician' and 'burnout & posttraumatic stress disorder'. RESULTS: Thirty-five papers were retained for further research. Emergency physicians scored significantly higher for all dimensions of burnout compared to other healthcare professions. Significant correlations for burnout were found with work characteristic and organizational factors. Critical incidents and aggression were identified as the most important acute work characteristics and organizational factors impacting emergency physician's mental wellbeing including the development of posttraumatic stress disorder. Moreover, personal factors such as age, personality, and coping strategies also play an important role in the development of burnout as well as work-related trauma. CONCLUSION: Available studies show that emergency physicians report higher scores of emotional exhaustion and depersonalization when compared to other healthcare professionals. Work characteristics contribute to this, but work-related traumatic incidents and aggression are important determinants. Personal characteristics such as age, personality type D, previous experiences and coping strategies seem to be determining factors likewise. Emergency physicians showed a high risk for developing burnout and work stress-related problems.

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.

Although deficiency of complex I of the mitochondrial respiratory chain is a frequent cause of encephalopathy in children, only a few mutations have been reported in each of its subunits. In the absence of families large enough for conclusive segregation analysis and of robust functional testing, it is difficult to unequivocally show the causality of the observed mutations and to delineate genotype-phenotype correlations, making additional observations necessary. We observed two consanguineous siblings with an early-onset encephalopathy, medulla, brainstem and mesencephalon lesions on brain magnetic resonance imaging and death before 8 months of age, caused by a complex I deficiency. We used a homozygosity mapping approach and identified a missense mutation in the NDUFV1 gene. The mutation, p.Arg386His, affects a highly conserved residue, contiguous to a cysteine residue known to coordinate an Fe ion. This observation adds to our understanding of complex I deficiency disease. It validates the important role of Arg386 and therefore supports the current molecular model of iron-sulfur clusters in NDUFV1.

A legal framework on advanced practice nursing in Belgium: what do we and don't we know?

OBJECTIVES: Presenting the Belgian new framework for Advanced Practice Nursing (APN) - 'Verpleegkundig Specialist [VS]'/"Infirmier de pratique avancée [IPA]" outlined in the Law of 22 April 2019, followed by a discussion of the lack of clarity, the current challenges and future opportunities. METHODS: The framework was analyzed by an expert in healthcare legislation and discussed by academics in Nursing Science and members of the board of directors of the Belgian Society of APN. RESULTS: Relevant paragraphs within this new law are"Article 46 §1. No one is allowed to carry the title of 'VS/IPA' who does not possess a bachelor in nursing mentioned in article 45 and who does not meet the requirements specified in this article. At the minimum, a master's degree in Nursing Sciences is also required. §2. Additional to the scope of practice of nursing as mentioned in article 46, the 'VS/IPA' perform, in the context of complex nursing care, medical interventions in order to maintain, improve or restore the health of the patient. Care is provided in the context of a specific target group of patients and in close concertation with the physician and potential other healthcare professionals. CONCLUSION: Although the legal recognition of the title of VS/IPA is a major breakthrough that will innovate healthcare, clarification is needed: How do VS/IPA distinguish themselves from other nursing functions, what is complex nursing care, which medical interventions can be performed, what is meant by specific target group of patients, what does 'in close concertation with the physician' entail, and will advisory power be possible?

Epileptic syndromes: differential treatment in infants, children, and adolescents.

This paper proposes therapeutic guidelines for the management of some epileptic syndromes in infants, children, and adolescents, based on available medical literature and clinical practice in the French Community of Belgium. The guidelines address both epileptic encephalopathies (West syndrome, Lennox-Gastaut syndrome, and Dravet syndrome) and idiopathic epilepsies (typical absence seizures, epilepsy with centro-temporal spikes and juvenile myoclonic epilepsy).

Towards a European health research and innovation cloud (HRIC).

The European Union (EU) initiative on the Digital Transformation of Health and Care (Digicare) aims to provide the conditions necessary for building a secure, flexible, and decentralized digital health infrastructure. Creating a European Health Research and Innovation Cloud (HRIC) within this environment should enable data sharing and analysis for health research across the EU, in compliance with data protection legislation while preserving the full trust of the participants. Such a HRIC should learn from and build on existing data infrastructures, integrate best practices, and focus on the concrete needs of the community in terms of technologies, governance, management, regulation, and ethics requirements. Here, we describe the vision and expected benefits of digital data sharing in health research activities and present a roadmap that fosters the opportunities while answering the challenges of implementing a HRIC. For this, we put forward five specific recommendations and action points to ensure that a European HRIC: i) is built on established standards and guidelines, providing cloud technologies through an open and decentralized infrastructure; ii) is developed and certified to the highest standards of interoperability and data security that can be trusted by all stakeholders; iii) is supported by a robust ethical and legal framework that is compliant with the EU General Data Protection Regulation (GDPR); iv) establishes a proper environment for the training of new generations of data and medical scientists; and v) stimulates research and innovation in transnational collaborations through public and private initiatives and partnerships funded by the EU through Horizon 2020 and Horizon Europe.

[Attention deficit disorder in childhood]. / Le déficit attentionnel chez l'enfant.

Attention deficit disorder, eventually associated with hyperactivity (ADD +/- H), is nowadays viewed as a syndrome often of unknown etiology but probably not unique, with important genetic influence and associated environmental factors. The cognitive model proposing ADHD as a result of impaired inhibitory control which makes the child less flexible to changing circumstances suffers from poor sensibility and specificity. As studies aimed to make genotype-phenotype correlations were disappointing, recent genetic researches tend to correlate the genotype to an endophenotype defined from neuro-imaging data with encouraging preliminary results. Treatment with methylphenidate has long been considered as a first choice for disabling forms of ADHD, but recent data do not show evidence for superiority of methylphenidate compared to non pharmacological approach at long-term. Evaluation and treatment of each suspected case of ADHD need to be tailored with special concern for associated conditions as psycho-affective troubles or learning difficulties.

Opsoclonus in a child with neuroborreliosis: Case report and review of the literature.

Opsoclonus consists of massive erratic rapid eye jerks. They may occur in isolation or in association with myoclonus and ataxia, i.e., opsoclonus-myoclonus syndrome (OMS). We report the case of a 9-year-old girl who suffered from headaches for several days and was shown to have opsoclonus and left peripheral facial palsy. Work-up excluded the diagnosis of neuroblastoma, but CSF analysis showed aseptic meningitis, and serology for Borrelia burgdorferi (Lyme) was positive. The outcome was favorable with complete regression of symptoms after treatment with ceftriaxone 2g/day for 3 weeks. Although rare, the diagnosis of Lyme neuroborreliosis must be raised in the presence of isolated opsoclonus, particularly if the clinical picture is incomplete and if other features, such as peripheral facial palsy and pleocytosis in the CSF, are present.

[Intraoperative MRI and epilepsy surgery]. / IRM opératoire et chirurgie de l'épilepsie.

Intraoperative imaging, in particular intraoperative MRI, is a developing area in neurosurgery and its role is currently being evaluated. Its role in epilepsy surgery has not been defined yet and its use has been limited. In our experience with a compact and mobile low-field intraoperative MRI system, a few epilepsy surgeries have been performed using this technique. As the integration of imaging and functional data plays an important role in the planning of epilepsy surgery, intraoperative verification of the surgical result may be highly valuable. Therefore, teams that have access to intraoperative MRI should be encouraged to use this technique prospectively to evaluate its current relevance in epilepsy surgery.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (PTPN11, HRAS, KRAS, BRAF, MEK1 and MEK2), involved in the mitogen-activated protein kinase (MAPK) pathway, have been identified in CFC-Costello-Noonan patients. Coenzyme Q10 (CoQ10), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation. We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ10 treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ10 biosynthesis. Another hypothesis is that K-Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ10 might contribute to the pathogenesis of CFC syndrome.

Inflammatory monocytes regulate Th1 oriented immunity to CpG adjuvanted protein vaccines through production of IL-12.

Due to their capacity to skew T cell responses towards Th1 oriented immunity, oligonucleotides containing unmethylated CpG motifs (CpG) have emerged as interesting adjuvants for vaccination. Whereas the signalling pathways in response to CpG mediated TLR9 activation have been extensively documented at the level of the individual cell, little is however known on the precise identity of the innate immune cells that govern T cell priming and polarisation to CpG adjuvanted protein antigens in vivo. In this study, we demonstrate that optimal induction of Th1 oriented immunity to CpG adjuvanted protein vaccines requires the coordinated actions of conventional DCs and of monocytes. Whilst conventional DCs were required for antigen presentation and initial T cell priming, monocytes constitute the main source of the Th1 polarising cytokine IL-12.

The epileptic syndromes with continuous spikes and waves during slow sleep: definition and management guidelines.

The authors propose to define the epileptic syndromes with continuous spikes and waves during slow sleep (CSWS) as a cognitive or behavioral impairment acquired during childhood, associated with a strong activation of the interictal epileptiform discharges during NREM sleep--whatever focal or generalized--and not related to another factor than the presence of CSWS. The type of syndrome will be defined according to the neurological and neuropsychological deficit. These syndromes have to be classified among the localization-related epileptic syndromes. Some cases are idiopathic and others are symptomatic. Guidelines for work-up and treatment are proposed.