177,042 research outputs found
Erratum to: Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement (Neuroradiology, (2017), 59, 3, (305-316), 10.1007/s00234-017-1795-1)
No full textIn the article “Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement”, the list of author names was incorrect. Author names were inverted with the surname preceding first name. Davide Brotto 1, Renzo Manara 2, Sara Ghiselli 1, Elisa Lovo 1, Rodica Mardari 3, Irene Toldo 4 , Alessandro Castiglione 1, Giovanni Schifano 1, Valentina Stritoni 1, Roberto Bovo 1, Patrizia Trevisi 1, Alessandro Martini 1
A case of neonatal onset leucoencefalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with rapid progression.
No full textObjective
To present a case of LBSL with neonatal onset and with rapid progression and to review the literature focused on LBSL with early onset (before one year of age).
Methods
We report a case of an infant admitted at our Child Neurology Unit in November 2014 with LBSL, investigated with blood and cerebrospinal spinal fluid (CSF) tests, brain and spinal magnetic resonance imaging (MRI).
Results
The patient was admitted at our hospital at 2 months of age because of severe hypotonia. She had regular antenatal and perinatal story. At birth physical and neurological examination were normal. At two weeks of age nystagmus was noticed and after few weeks, she started to be hyporeactive and hypotonic. At our examination she had severe and diffuse hypotonia, brisk reflex at legs and nystagmus. CSF examination showed an increased lactate (7.4 mmol/L, range 1.2–2.2 mmol/L). Cerebral (including spectroscopy) and spinal MRI showed changes in white matter consistent with LBSL. Two weeks later she developed respiratory arrest and needed mechanical ventilatory support. Steroid therapy was administered without results. Genetic test is in progress.
Conclusion
LBSL is a rare disease described for the first time in 2003 by Van der Knaap et al. as a mild disorder with childhood and adolescent onset and slow progression. In the Literature we found two cases with neonatal onset, rapid deterioration and death respectively at 2 and 3 year of age and 16 cases with onset before 12 months (mean 8 months) and early death in 6/16 cases. We add to the pertinent literature a new case of LBSL with neonatal onset having a rapid and deteriorating course. This condition should be suspected in neonates or infants with leukoencephalopathy on brain MRI and lactic acidosis in CSF. Spinal MRI and specific genetic tests are needed to confirm the diagnosis
Bilateral absence of cortical SEP and neuroimaging: Study of a cohort of 40 neonates suffering from hypoxic-ischemic encephalopathy treated with therapeutic hypothermia
No full textThe prognostic role of SEPs in neonatal hypoxic-ischemic encephalopathy (HIE) was documented before the advent of therapeutic hypothermia (HT). Brain MRI as an established role as outcome measure in neonatal HIE. The prognostic role of the SEP has not been studied. The aim of this study is to evaluate the prognostic role of SEP in neonatal HIE undergoing HT, using MRI as an outcome measure, since it has not been studied. We prospectively recruited 40 neonates with HIE treated with IT using TOBY’s criteria (2009–2011). The protocol includes SEP within the 1st week of life and brain MRI at the 2nd week of life. The recordings and the images were scored by Suppiej et al. (2010) and Glass et al. (2011), respectively. Bilateral absence of cortical SEP was associated to moderate and severe neuroimaging lesions with a PPV of 80% and NPV of 81% (sensitivity of 44% and specificity of 96%). Bilateral absence of cortical SEP is associated with MRI severe lesions, which are known to predict severe neuromotor disabilities. These data suggest that the prognostic role of SEPs is confirmed in neonatal HIE treated with IT
Spontaneous recurrent intracranial haemorrhage in a woman with type 2B von Willebrand disease: A clinical case and a brief literature review
No full textPOST-SURGICAL HYPERTROPHIC OLIVARY DEGENERATION (HOD): EXPERIENCE IN A PAEDIATRIC POPULATION
No full textAppropriate Similarity Measures for Author Cocitation Analysis
No full textWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
"Closing the R&D Gap, Evaluating the Sources of R&D Spending"
No full textBoth spending and tax policies have been implemented in the United States with the goal of stimulating private sector research and development (R&D). Karier questions whether current R&D policy, especially the research and experimentation tax credit, can contribute to closing the gap between nondefense expenditures on R&D in the United States and such expenditures in other countries, such as Japan and Germany. He also explores possible changes to our current R&D policy to make it more effective.
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
No full textMucopolysaccharidosis type II (MPS-II, Hunter disease) is a X-linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS-II brain magnetic resonance imaging (MRI) "gestalt" in males, but neuroradiological reports on females are still lacking. We present an 11-year-old girl affected by the severe form of MPS-II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS-II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified
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