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Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition
Get PDFSeizure threshold 2 (SZT2) gene mutations have been associated with developmental and epileptic encephalopathies (DEEs). Following a literature review, we collected 22 patients and identified the main clinical features related to SZT2 variants that are epilepsy with onset within the first years of life, intellectual disability (ID), macrocephaly with dysmorphic facial features, corpus callosum (CC) shape abnormalities, and cortical migration disorders. Moreover, we identified the c.7825T>G homozygous missense variant in SZT2 in two female siblings presenting with focal seizures, mild-moderate ID, behavioral disturbances, and facial dysmorphisms. Interictal Electroencephalogram (EEG) and ictal EEG were both informative and revealed, respectively, temporal bilateral asynchronous slow and epileptiform abnormalities and a focal onset in both of them. Neuroimaging study revealed a thick and abnormally shaped CC. Seizure threshold 2 has been identified as a component of the KICSTOR complex, a newly recognized protein complex involved in the mammalian target of rapamycin (mTOR) pathway. mTOR signaling dysregulation represents common pathogenetic mechanisms that can explain the presence of both epileptogenesis and ID. Even if few cases had been reported, a new clinical phenotype is emerging, and recent hypothesis of hyperactivation of mTORC1 signaling might also open to targeted treatments, challenging an early diagnosis as of paramount importance.Fil: Trivisano, Marina. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Rivera, Manuel. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia. Fleni. Departamento de Neuropediatría; Argentina.Fil: Terracciano, Alessandra. Bambino Gesù Children's Hospital. Laboratory of Medical Genetics; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Ciolfi, Andrea. Bambino Gesù Children's Hospital. Genetics and Rare Diseases Research Division; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Napolitano, Antonio. Bambino Gesù Children's Hospital. Department of Imaging. Neuroradiology Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Pepi, Chiara. Tor Vergata University. Systems Medicine Department. Child Neurology and Psychiatry Unit; Italia.Fil: Calabrese, Costanza. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Digilio, Maria Cristina. Bambino Gesù Children's Hospital. Department of Pediatrics. Medical Genetics; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Tartaglia, Marco. Bambino Gesù Children's Hospital. Genetics and Rare Diseases Research Division; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Curatolo, Paolo. Tor Vergata University. Systems Medicine Department. Child Neurology and Psychiatry Unit; Italia.Fil: Vigevano, Federico. Bambino Gesù Children's Hospital. Department of Neuroscience; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Specchio, Nicola. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia
The clinical relevance of oliguria in the critically ill patient: analysis of a large observational database
No full textBackground: Urine output is widely used as one of the criteria for the diagnosis and staging of acute renal failure, but few studies have specifically assessed the role of oliguria as a marker of acute renal failure or outcomes in general intensive care unit (ICU) patients. Using a large multinational database, we therefore evaluated the occurrence of oliguria (defined as a urine output < 0.5 ml/kg/h) in acutely ill patients and its association with the need for renal replacement therapy (RRT) and outcome.
Methods: International observational study. All adult (> 16 years) patients in the ICON audit who had a urine output measurement on the day of admission were included. To investigate the association between oliguria and mortality, we used a multilevel analysis.
Results: Of the 8292 patients included, 2050 (24.7%) were oliguric during the first 24 h of admission. Patients with oliguria on admission who had at least one additional 24-h urine output recorded during their ICU stay (n = 1349) were divided into three groups: transient-oliguria resolved within 48 h after the admission day (n = 390 [28.9%]), prolonged-oliguria resolved > 48 h after the admission day (n = 141 [10.5%]), and permanent-oliguria persisting for the whole ICU stay or again present at the end of the ICU stay (n = 818 [60.6%]). ICU and hospital mortality rates were higher in patients with oliguria than in those without, except for patients with transient oliguria who had significantly lower mortality rates than non-oliguric patients. In multilevel analysis, the need for RRT was associated with a significantly higher risk of death (OR = 1.51 [95% CI 1.19-1.91], p = 0.001), but the presence of oliguria on admission was not (OR = 1.14 [95% CI 0.97-1.34], p = 0.103).
Conclusions: Oliguria is common in ICU patients and may have a relatively benign nature if only transient. The duration of oliguria and need for RRT are associated with worse outcome.Fil: Wainsztein, Néstor Adrián. Fleni. Departamento de Medicina Interna; Argentina.Fil: Vincent, Jean-Louis. Université Libre de Bruxelles. Erasme University Hospital. Department of Intensive Care; Bélgica.Fil: Ferguson, Andrew. Belfast City Hospital. Department of Intensive Care Medicine; Reino Unido.Fil: Pickkers, Peter. Radboud University Medical Center. Department of Intensive Care Medicine; Países Bajos.Fil: Jakob, Stephan M. University of Bern. University Hospital Bern. Department of Intensive Care Medicine; Suiza.Fil: Jaschinski, Ulrich. Universität Augsburg. Universitätsklinik Augsburg. Klinik für Anästhesiologie und Operative Intensivmedizin; Alemania.Fil: Almekhlafi, Ghaleb A. Prince Sultan Military Medical City. ICS Department; Arabia Saudita.Fil: Leone, Marc. Aix Marseille Université. Hôpital Nord. Service d'Anesthésie et de Réanimation; Francia.Fil: Mokhtari, Majid. SBMU. Department of Internal Medicine; Irán.Fil: Fontes, Luis E. Faculdade de Medicina de Petrópolis. Departamento de Medicina Baseada em Evidências, Medicina Intensiva, Urgência e Emergência; Brasil.Fil: Bauer, Philippe R. Mayo Clinic. Division of Pulmonary and Critical Care Medicine. Department of Internal Medicine; Estados Unidos.Fil: Sakr, Yasser. Uniklinikum Jena. Departament of Anaesthesiology and Intensive Care; Alemania
SARS-CoV-2 and the risk of Parkinson's disease: facts and fantasy
No full textFil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.Fil: Bhatia, Kailash P. University College London. UCL Queen Square Institute of Neurology. Department of Clinical and Movement Neurosciences; Inglaterra.Fil: Obeso, José A. Centro Integral de Neurociencias AC - HM CINAC; España
Bridging the gaps of headache care for underserved populations: A medication overuse headache survey among international headache society members from Latin America
No full textAbstract
Introduction: Headache epidemiological studies in Latin America are scarce, and available data suggest that medication
overuse headache is an existing health concern in the region.
Materials and Methods: A survey empirically constructed to assess the management of medication overuse headache
was sent to all the International Headache Society (IHS) members from Latin American countries.
Results: We found no IHS members in 13 countries of Latin America. In countries with active members, the median
number of IHS members per million inhabitants was significantly less when compared to Western Europe. Although the
International Classification of Headache Disorders-3-beta (ICHD-3-beta) criterion was the most frequently used tool for
medication overuse headache diagnosis, 41% of responders considered the diagnostic criterion ‘ambiguous’ and only 67%
found them ‘very useful’. With respect to preferred treatment patterns, an important lack of uniformity, and a very limited
usage of therapeutic approaches widely employed in other regions, characterized the responses.
Conclusion: There is an urgent need to reach a consensus and establish region-specific strategies for the management of
medication overuse headache as well as other headache disorders in this region. Development of headache specialized
educational programmes, and participation of Latin American health providers in the IHS, should be incentivized.Goicochea, María Teresa. Fleni. Departamento de Neurología; Argentina.Lisicki, Marco. Citadelle Hospital. University Department of Neurology CHR. Headache Research Unit; Bélgica. University of Liege; BélgicaCastro Flores, Juan Antonio. Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Instituto de Psiquiatria. Divisão de Neurocirurgia Funcional; Brasil.Bordini, Carlos Alberto. Clinica Neurológica Batatais; Brasil.Prieto Peres, Mario Fernando. Hospital Israelita Albert Einstein, São Paulo; Brasil. Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Instituto de Psiquiatria; Brasil
Importance of Understanding the Real Cause of Death in Status Epilepticus
No full textResumen no disponibleFil: Hawkes, Maximiliano Alberto. Fleni. Departamento de Medicina Interna; Argentina. Fleni. Departamento de Neurología; Argentina. Mayo Clinic. Department of Neurology; Estados Unidos.Fil: Hocker, Sara. Fleni. Departamento de Medicina Interna; Argentina. Fleni. Departamento de Neurología; Argentina. Mayo Clinic. Department of Neurology; Estados Unidos
Animals in the Brain
No full textBackground
Pareidolic associations are commonly used in medical education to enhance perception of radiological abnormalities. A number of animal‐inspired neuroradiological pareidolias have been defined which should alert clinicians to specific movement disorder diagnoses.
Methods
A review of the published literature detailing neuroradiological abnormalities in movement disorder syndromes was conducted, looking specifically for established animal‐inspired pareidolic associations.
Results
A number of animal‐inspired neuroradiological patterns with specific movement disorder associations have been defined. These include eye of the tiger sign, face of the panda sign, swallow tail sign, hummingbird sign, Mickey Mouse sign, ears of the lynx sign, dragonfly cerebellum, tadpole sign, tigroid/leopard skin sign, and bat wing sign.
Conclusion
Pareidolias represent a quick and easy way of enhancing perception, thereby improving the efficiency and accuracy of image analysis. Movement disorder physicians should keep in mind these associations, given that they will likely facilitate scan analysis.Fil: Mulroy, Eoin. National Hospital for Neurology and Neurosurgery. Department of Clinical and Movement Neurosciences; Reino Unido.Fil: Balint, Bettina. National Hospital for Neurology and Neurosurgery. Department of Clinical and Movement Neurosciences; Reino Unido.Fil: Adams, Matthew E. National Hospital for Neurology and Neurosurgery. Department of Neuroradiology; Reino Unido.Fil: Campion, Tom. National Hospital for Neurology and Neurosurgery. Department of Neuroradiology; Reino Unido.Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.Fil: Bhatia, Kailash P. National Hospital for Neurology and Neurosurgery. Department of Clinical and Movement Neurosciences; Reino Unido
Funcionamiento del Insomnio: Un estudio a través del Rorschach
No full textResumen no disponiblehttp://www.enciclopediasaludmental.org.ar/trabajo.php?idt=93&idtt=74Fil: Levantini, Susana. Fleni. Departamento de Neurología. Servicio de Sueño y Vigilia. Laboratorio de Sueño; Argentina. Pontificia Universidad Católica; Argentina. Universidad del Salvador; Argentina
Silencing of the transcription factors Oct4, Sox2, Klf4, c-Myc or Nanoghas different effect on teratoma growth
No full textInduced pluripotent stem cells (iPSC) have a great potential, but their clinical application depends on finding strategies to abolish their tumorigenic potential. The use of Oct4, Sox2, Klf4, c-Myc and Nanog to generate iPSC demonstrated the already known importance of these genes to maintain stemness. Therefore, the presence of these genes is responsible for iPSC-derived teratomas. Similar to iPSC, P19 teratocarcinoma cell line also has characteristics of embryonic carcinoma cells and the ability to differentiate into many cell types. We separately silenced the transcription factors Oct4, Sox2, Klf4, c-Myc and Nanog in P19 cells and measured the impact of this silencing in vivo. All silenced cells generated tumors when injected in immunosuppressed mice, but silencing of Oct4, Sox2 and Klf4 generated mainly teratomas with mesoderm tissue. Our results suggest that downregulation of these transcription factors is not enough to avoid the formation of teratomas, but their silencing affect their differentiation potential.Fil: Schlee Villodre, Emilly. Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Biofísica. Labsinal; Brasil.Fil: Bettega Felipe, Karina. Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Biofísica. Labsinal; Brasil. Universidade Federal do Paraná. Departamento de Análises Clínicas; Brasil.Fil: Zanotta Oyama, Mayumi. Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Biofísica. Labsinal; Brasil.Fil: Hehn de Oliveira, Francine. Universidade Federal do Rio Grande do Sul. Escola de Medicina. Departamento de Patologia; Brasil.Fil: da Costa Lopez, Patrícia Luciana. Universidade Federal do Rio Grande do Sul. Escola de Medicina. Programa de Pós-Graduação em Gastroenetrologia e Hepatologia; Brasil.Fil: Solari, Claudia. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Instituto de Química Biológica; Argentina.Fil: Sevlever, Gustavo Emilio. Instituto de Neurociencias FLENI-CONICET; Argentina.Fil: Guberman, Alejandra S. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Instituto de Química Biológica; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Fisiología y Biología Molecular y Celular; Argentina.Fil: Lenz, Guido. Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Biofísica. Labsinal; Brasil. Universidade Federal do Rio Grande do Sul. Centro de Biotecnologia; Argentina
Corticosteroids affect the dynamics of multiple sclerosis lesions formation (P3.2-079)
No full textObjective: To obtain in-vivo evidence of early dynamics of multiple sclerosis (MS) lesions formation and changes that corticosteroids may induce.
Background: MRI showed that the development of MS lesions is dynamic and heterogeneous. Lesions grow outward from a central vein comprising disruption of the blood-brain-barrier (BBB) illustrated in the centrifugal enhancement proved by dynamic contrast–enhanced (DCE) MRI; in some of them, a substantial immune reaction at the edge of the lesion, opens the BBB in the capillaries mirrored as the centripetal enhancement by DCE. The latter, previously called ring-like, are associated with more severe tissue damage and may show a paramagnetic-rim, which persistency may represent failure of lesion repair and in later stages, smoldering lesions.
Design/Methods: Six relapsing patients were scanned in a General Electric 3.0 tesla scanner. T2-weighted, susceptibility-weighted, T1-weighted (before/after gadolinium), and DCE scans were acquired at baseline, days 5, 10 and 30 post-exacerbation. Half of the patients were infused with methylprednisolone 1000mg/5days, immediately after baseline MRI. For each enhancing-lesion, dynamic of enhancement, size, and phase appearance, were assessed at each time-point.
Results: Fifty-seven lesions were analyzed; centrifugal lesions (n=45) were smaller (4.5mm) than 15 centripetal ones (10.5 mm); eight centripetal showed a paramagnetic-rim. Three patients not treated with corticosteroids developed 19 lesions, 8/9(88%) at baseline were centrifugal (1 centripetal); at day 30, 7/9(70%) lesions were centripetal (2 centrifugal). Three patients treated with methylprednisolone had 38 lesions, 28/31(90%) at baseline were centrifugal (3 centripetal), most of enhancement transiently or definitely disappeared at second time-point. At day 30, 3/11 were centripetal (27%) (8 centrifugal).
Conclusions: Corticosteroids seem to be effective for closing transiently/definitely the BBB of most active lesions and notably for preventing the shift to centripetal enhancement, probably eluding the stronger immune reaction at the edge of the developing lesion. This may portend less chronic tissue damage.Fil: Gaitán, María Inés. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; ArgentinaFil: De Pino, Gabriela. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Ysrraelit, Maria Célica. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Michelin, Gabriela. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Yañez, Paulina. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Correale, Jorge. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina
Use of the WHO Access, Watch, and Reserve classification to define patterns of hospital antibiotic use (AWaRe): an analysis of paediatric survey data from 56 countries
Get PDFBackground
Improving the quality of hospital antibiotic use is a major goal of WHO's global action plan to combat antimicrobial resistance. The WHO Essential Medicines List Access, Watch, and Reserve (AWaRe) classification could facilitate simple stewardship interventions that are widely applicable globally. We aimed to present data on patterns of paediatric AWaRe antibiotic use that could be used for local and national stewardship interventions.
Methods
1-day point prevalence survey antibiotic prescription data were combined from two independent global networks: the Global Antimicrobial Resistance, Prescribing, and Efficacy in Neonates and Children and the Global Point Prevalence Survey on Antimicrobial Consumption and Resistance networks. We included hospital inpatients aged younger than 19 years receiving at least one antibiotic on the day of the survey. The WHO AWaRe classification was used to describe overall antibiotic use as assessed by the variation between use of Access, Watch, and Reserve antibiotics, for neonates and children and for the commonest clinical indications.
Findings
Of the 23 572 patients included from 56 countries, 18 305 were children (77·7%) and 5267 were neonates (22·3%). Access antibiotic use in children ranged from 7·8% (China) to 61·2% (Slovenia) of all antibiotic prescriptions. The use of Watch antibiotics in children was highest in Iran (77·3%) and lowest in Finland (23·0%). In neonates, Access antibiotic use was highest in Singapore (100·0%) and lowest in China (24·2%). Reserve antibiotic use was low in all countries. Major differences in clinical syndrome-specific patterns of AWaRe antibiotic use in lower respiratory tract infection and neonatal sepsis were observed between WHO regions and countries.
Interpretation
There is substantial global variation in the proportion of AWaRe antibiotics used in hospitalised neonates and children. The AWaRe classification could potentially be used as a simple traffic light metric of appropriate antibiotic use. Future efforts should focus on developing and evaluating paediatric antibiotic stewardship programmes on the basis of the AWaRe index.Fil: Hsia, Yingfen. St George's University of London; Reino Unido.Fil: Lee, Brian L. Children's Mercy Kansas City; Estados Unidos.Fil: Versporten, Ann. University of Antwerp; Bélgica.Fil: Yang, Yonghong. Capital Medical University; China.Fil: Bielicki, Julia. St George's University of London; Reino Unido.Fil: Jackson, Charlotte. St George's University of London; Reino Unido.Fil: Newland, Jason. Washington University in St Louis Children's Hospital; Estados Unidos.Fil: Goossens, Herman. University of Antwerp; Bélgica.Fil: Magrini, Nicola. Department of Essential Medicines and Health Products; Suiza.Fil: Sharland, Mike. St George's University of London; Reino Unido.Fil: Cornistein, Wanda. Fleni. Servicio de Infectología; Argentina.Fil: Del Castillo, Marcelo Ernesto. Fleni. Servicio de Infectología; Argentina