Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?

In this paper, we describe the multimodal MRI findings in a patient with Wilson disease and a seizure disorder, characterized by an electroclinical picture resembling juvenile myoclonic epilepsy. The brain structural MRI showed a deposition of ferromagnetic materials in the basal ganglia, with marked hypointensities in T2-weighted images of globus pallidus internus bilaterally. A resting-state fMRI study revealed increased functional connectivity in the patient, compared to control subjects, in the following networks: (1) between the primary motor cortex and several cortical regions, including the secondary somatosensory cortex and (2) between the globus pallidus and the thalamo-frontal network. These findings suggest that globus pallidus alterations, due to metal accumulation, can lead to a reduction in the normal globus pallidus inhibitory tone on the thalamo-(motor)-cortical pathway. This, in turn, can result in hyperconnectivity in the motor cortex circuitry, leading to myoclonus and tonic-clonic seizures. We suppose that, in this patient, Wilson disease generated a ‘lesion model’ of myoclonic epilepsy

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations

Background: Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of communication of diagnosis is low. Poor communication may have short and long-term negative effects on health and psychological and social development of the child and his family. We draw up recommendations on this issue, shared by 6 Italian Scientific Societies and 4 Parents’ Associations, aimed at making the neonatologist’s task easier at the difficult time of communication to parents of a genetic disease/malformation syndrome diagnosis for their child. Methods: We used the method of the consensus paper. A multidisciplinary panel of experts was first established, based on the clinical and scientific sharing of the thematic area of present recommendations. They were suggested by the Boards of the six Scientific Societies that joined the initiative: Italian Societies of Pediatrics, Neonatology, Human Genetics, Perinatal Medicine, Obstetric and Gynecological Ultrasound and Biophysical Methodologies, and Pediatric Genetic Diseases and Congenital Disabilities. To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, representatives of four Parents’ Associations were also recruited: Italian Association of Down People, Cornelia de Lange National Volunteer Association, Italian Federation of Rare Diseases, and Williams Syndrome People Association. They worked from September 2019 to November 2020 to achieve a consensus on the recommendations for the communication of a new diagnosis of genetic disease. Results: The consensus of experts drafted a final document defining the recommendations, for the neonatologist and/or the pediatrician working in a fist level birthing center, on the first communication of genetic disease or malformation syndrome diagnosis. Although there is no universal communication technique to make the informative process effective, we tried to identify a few relevant strategic principles that the neonatologist/pediatrician may use in the relationship with the family. We also summarized basic principles and significant aspects relating to the modalities of interaction with families in a table, in order to create an easy tool for the neonatologist to be applied in the daily care practice. We finally obtained an intersociety document, now published on the websites of the Scientific Societies involved. Conclusions: The neonatologist/pediatrician is often the first to observe complex syndromic pictures, not always identified before birth, although today more frequently prenatally diagnosed. It is necessary for him to know the aspects of genetic diseases related to communication and bioethics, as well as the biological and clinical ones, which together outline the cornerstones of the multidisciplinary care of these patients. This consensus provide practical recommendations on how to make the first communication of a genetic disease /malformation syndrome diagnosis. The proposed goal is to make easier the informative process, and to implement the best practices in the relationship with the family. A better doctor-patient/family interaction may improve health outcomes of the child and his family, as well as reduce legal disputes with parents and the phenomenon of defensive medicine

Neurophysiological and neuroradiological test for early poor outcome (Cerebral Performance Categories 3\u20135) prediction after cardiac arrest: Prospective multicentre prognostication data

The data presented here are related to our research article entitled \u201cNeurophysiology and neuroimaging accurately predict poor neurological outcome within 24 hours after cardiac arrest: a prospective multicentre prognostication study (ProNeCA)\u201d [1]. We report a secondary analysis on the ability of somatosensory evoked potentials (SEPs), brain computed tomography (CT) and electroencephalography (EEG) to predict poor neurological outcome at 6 months in 346 patients who were comatose after cardiac arrest. Differently from the related research article, here we included cerebral performance category (CPC) 3 among poor outcomes, so that the outcomes are dichotomised as CPC 1\u20132 (absent to mild neurological disability: good outcome) vs. CPC 3\u20135 (severe neurological disability, persistent vegetative state, or death: poor outcome). The accuracy of the index tests was recalculated accordingly. A bilaterally absent/absent-pathological amplitude (AA/AP) N20 SEPs wave, a Grey Matter/White Matter (GM/WM) ratio <1.21 on brain CT and an isoelectric or burst suppression EEG predicted poor outcome with 49.6%, 42.2% and 29.8% sensitivity, respectively, and 100% specificity. The distribution of positive results of the three predictors did not overlap completely in the population of patients with poor outcome, so that when combining them the overall sensitivity raised to 61.2%

NK cells and cancer: you can teach innate cells new tricks

Natural killer (NK) cells are the prototype innate lymphoid cells endowed with potent cytolytic function that provide host defence against microbial infection and tumours. Here, we review evidence for the role of NK cells in immune surveillance against cancer and highlight new therapeutic approaches for targeting NK cells in the treatment of cancer

Variabilidad en "Eucaliptus rostrata"

Fil: Contardi, Héctor G.. Universidad Nacional de Cuyo. Facultad de Ciencias Agraria

Transpiración y formación de materia seca en vid

En cultivos de vid (Vitis Vinifera L.) pertenecientes a las variedades cultígenas “Marlbec" y “Semillón", en el departamento de Luján de la Provincia de Mendoza (República Argentina), se realizaron experiencias para determinar los “coeficientes transpiratorios" respectivos. Se determino la cantidad de materia seca que ambas variedades formaron durante la campaña agrícola 1949 – 1950 y se relacionan éstos datos con otras observaciones realizadas por los autores en trabajos anteriores referente a la cantidad de agua que transpira la vos en Mendoza, durante todo su ciclo biológico, desde la brotación en primavera hasta la caída de las hojas en otoño. Se establece que para elaborar 1 kilogramo de materia seca, la variedad “Malbec" debe transpirar 405 litros de agua, y la variedad “Semillón" 359 litros.Experiences on vine cultivations (Vitis Vinifera L.) belonging to the varieties “Malbec" and “Semillón" to determine its “tranpiratory coefficient" were carried out. The dry matter formed by both varieties during the agricultural campaing of 1949 – 1950 was determined and the data were related to other observations made by the authors in previous works in regard to the quantity of water that the vine in Mendoza transpires during its whole biological cycle, from the bursting of the bud in Spring to the folling of the leaves in Autumn. It is stablisher that the variety “Malbec" must transpire 405 liters of water and the variety “Semillón" must transpire 359 liters of water to elaborate each 1 kilo of dry matter.Fil: Contardi, Héctor G.. Universidad Nacional de Cuyo. Facultad de Ciencias AgrariasFil: Pimenides, Atanasio G.. Universidad Nacional de Cuyo. Facultad de Ciencias Agraria

Experiencias comparativas con los métodos gravimétrico y volumétrico en el proceso transpiratorio de la vid (vitis vinifera L.)

Se realizaron experiencias comparativas simultáneas de transpiración vegetal en vid (vitis vinifera L.) variedad cultígena Pedro Giménez, empleando los métodos gravimétrico y volumétrico. La finalidad del trabajo era poder determinar las diferencias que acusaban ambos métodos, para lo cual se registraron observaciones simultáneas. Se propone denominar R. T. a la relación de transpiración, o sea a le cantidad de agua en centímetros cúbicos que transpira un centímetro cuadrado de superficie foliar durante 24 horas. Aproximadamente, empleando el método gravimétrico, cada centímetro cuadrado de superficie foliar de la variedad estudiada transpira un centímetro cúbico de agua en 24 horas. Las observaciones registradas con ambos métodos presentan correlación positiva. Con el método gravimétrico la transpiración foliar fue aproximadamente 25 % más intensa que con el volumétrico.Fil: Contardi, Héctor G.. Universidad Nacional de Cuyo. Facultad de Ciencias AgrariasFil: Pimenides, Atanasio G.. Universidad Nacional de Cuyo. Facultad de Ciencias Agraria

Cantidad de agua que transpira la vid (Vitis vinifera L.) : variedad cultígena "semillón" : en Mendoza

Se realizaron numerosas observaciones de transpiración vegetal con vid (Vitis vinifera L.), variedad cultígena “Semillón", desde la brotación en primavera hasta la caída de las hojas en otoño. El fin principal del estudio fué poder determinar la cantidad de agua que una hectárea de cultivo de vid transpira en Mendoza (Argentina), durante su ciclo biológico completo, y que fue de 4.243,5 m³. Las experiencias se realizaron en los campos experimentales y _ laboratorios de la Facultad de Ciencias Agrarias de la Universidad Nacional de Cuyo. El viñedo estudiado era de tipo espaldera baja, con plantas de vid en hileras distanciadas 2 m y habiendo 1 m de distancia entre planta y planta, lo que suma 5.000 cepas por hectárea. Se consideró un período activo de transpiración de 207 días. La transpiración media diaria (24 horas) por planta fue de 4,1 litros de agua.The principal object of this study was to be able to determine the quantity of water that one hectare of vineyard transpires in Mendoza (Argentina), throughout the whole of its biological cycle, such quantyti being of 4.243,5 cubic metres. These experiments were made in the experimental station and laboratories of the "Facultad de Ciencias Agrarias" of the "Universidad Nacional de Cuyo". Many experiments of plants transpiration have been made on the vine (Vitis vinifera L) of the "semillón" variety, extending from the budding stage in spring up to the times the leaves full in autumn. The vineyard under observation consisted of vines trained on a low wire trellis, ane meter apart in rows, two meters apart, wich adds up to 5.000 plants per hectare. This physiological process was studied during a period of 207 days. The average daily tranpiration (24 hours) per plant was of 4,1 litres of water.Fil: Contardi, Héctor G.. Universidad Nacional de Cuyo. Facultad de Ciencias AgrariasFil: Pimenides, Atanasio G.. Universidad Nacional de Cuyo. Facultad de Ciencias Agraria

Impurezas tóxicas en fertilizantes comerciales

Fil: Contardi, Héctor G.. Universidad Nacional de Cuyo. Facultad de Ciencias AgrariasFil: Pimenides, Atanasio G.. Universidad Nacional de Cuyo. Facultad de Ciencias Agraria