Symptomatic seizures in preterm newborns: a review on clinical features and prognosis

Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements.Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial cranial ultrasound and brain magnetic resonance at term-equivalent age. Unfavourable outcomes following seizures in preterm infants include death, neurodevelopmental impairment, epilepsy, cerebral palsy, hearing and visual impairment. As experimental evidence suggests a detrimental role of seizures per se in determining subsequent outcome, they should be promptly treated with the aim to reduce seizure burden and long-term disabilities. However, neonatal seizures show low response to conventional anticonvulsant drugs, and this is even more evident in preterm newborns, due to intrinsic developmental factors. As a consequence, as literature does not provide any specific guidelines, due to the lack of robust evidence, off-label medications are often administered in clinical practice

Evaluation of the safety factors of shotcrete linings during the creep stage

Sprayed concrete linings (SCLs) used in tunnels generally develop secondary deformations over time, even in the presence of constant stress levels within the lining. These deformations influence the loading process on the lining and therefore also the stress levels within the support structure. The behaviour of a SCL in a tunnel was investigated under different operating conditions in order to evaluate the effect of secondary deformations on the evolution of stability conditions (safety margins with respect to the possible concrete failure) over time, after completion of the tunnel construction. A parametric analysis was performed to study eight different types of tunnels, with variable geometry and rock quality, and eight different types of sprayed concrete. The 64 cases of the parametric analysis covered the vast range of variability of influential parameters and yielded useful information concerning the effects of secondary deformations over time on the static behaviour of the lining and on the safety factor with reference to the possible failure of the sprayed concrete

Hereditary neuropathy with liability to pressure palsy (HNPP): Report of a family with a new point mutation in PMP22 gene

Background: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. Case presentation: We report on a familial case harbouring a new point mutation in the PMP22 gene. The proband is a 4-years-old girl with acute onset of focal numbness and weakness in her right hand. Electroneurography demonstrated transient sensory and motor radial nerves involvement. In her father, reporting chronic symptoms (cramps and exercise-induced myalgia), we uncovered mild atrophy and areflexia on clinical examination and a mixed (predominantly demyelinating) polyneuropathy with sensory-motor involvement on electrophysiological study. Both carried a nucleotidic substitution c.178 + 2 T > C on intron 3 of the PMP22 gene, involving the splicing donor site, not reported on databases but predicted to be likely pathogenic. Conclusions: We described a previously unreported point mutation in PMP22 gene, which led to the development of a HNPP phenotype in a child and her father. In children evaluated for a sensory and motor transient episode, HNPP disorder due to PMP22 mutations should be suspected. Clinical and electrophysiological studies should be extended to all family members even in the absence of previous episodes suggestive for HNPP

Workaholism, intensive smartphone use, and the sleep-wake cycle: A multiple mediation analysis

Recent contributions have reported sleep disorders as one of the health impairment outcomes of workaholism. A possible factor affecting the sleep-wake cycle might be the intensive use of smartphones. The current study aimed to explore the role of intensive smartphone use in the relationship between workaholism and the sleep-wake cycle. Two serial multiple mediation models were tested on a sample of 418 employees, who filled self-report questionnaires measuring workaholism, use of smartphones, sleep quality and daytime sleepiness, using conditional process analysis for testing direct and indirect effects. Results supported our hypotheses regarding two serial multiple mediation models-that intensive smartphone use and poor sleep quality mediated the relationship between workaholism and daytime sleepiness, and that smartphone use and daytime sleepiness mediated the relationship between workaholism and poor quality of sleep. Although the use of a cross-sectional design and the snowball technique for collecting data can be considered as possible limitations, the current study is one of the first to document the potential detrimental role of the intensive smartphone use on the workaholism-sleep disorders relationship

Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile niemann-pick type C

Background: Niemann-Pick disease type C (NPC) is a lysosomal storage disease caused by mutations in NPC1 or NPC2 genes. Case presentation: We present two brothers with the same compound heterozygous variants in exon 13 of the NPC1 gene (18q11.2), the first one (c.1955C> G, p. Ser652Trp), inherited from the mother, the second (c.2107T>A p.Phe703Ile) inherited from the father, associated to the classical biochemical phenotype of NPC. The two brothers presented unspecific neurologic symptoms with difference in age of onset: one presented and previously described dyspraxia and motor clumsiness at age 7 years, the other showed a systemic presentation with hepatosplenomegaly noted at the age of two months and neurological symptoms onset at age 4 with speech disturbance. Clinical evolution and neuroimaging data led to the final diagnosis. Systemic signs did not correlate with the onset of neurological symptoms. Miglustat therapy was started in both patients. Conclusions: We highlight the extreme phenotypic heterogeneity of NP-C in the presence of the same genetic variant and the unspecificity of neurologic signs at onset as previously reported. We report some positive effects of miglustat on disease progression assessed also with neuropsychological follow-up, with an age-dependent response

Synchronized onset of nuclear and cell surface modifications in U937 cells during apoptosis

In this study we investigated the relationship between nuclear and cell surface modifications (i.e. blebbing, phosphatidylserine [PS] and sugar residues exposure) in a monocytic cell line, U937, during apoptosis induced by oxidative stress (1mM H2O2) or inhibition of protein synthesis (10 mg/ml puromycin). Dying cells were simultaneously observed for nuclear modifications, presence of superficial blebs and plasma membrane alterations. Morphological analysis performed by conventional fluorescence microscopy, or by transmission and scanning electron microscopy showed that the courses of nuclear and membrane alterations occured concomitantly, but the phenotype was dependent on the stage of the apoptotic process and the type of apoptogenic inducer used. The progression of apoptosis in U937 cells beyond early stages resulted in the extensive formation of blebs which concomitantly lost some typical markers of apoptosis, such as PS and sugar residues. Therefore, the modality by which the nucleus condenses, or the amount and the pattern of distribution of PS on the cell surface were, for each cell line, strictly related to the apoptogenic inducer. The morphological data reported in the present paper should lead to a more precise quantification of apoptosis by improving the detection of apoptotic cells in vivo (i.e. in tissue, organs), which is a crucial point in the evaluation of efficiency of antiproliferative drugs, such as antiblastic or immunosuppressive compounds

Cancer-testis antigen expression in triple-negative breast cancer

Background: Cancer-testis (CT) antigens, frequently expressed in human germline cells but not in somatic tissues, may become aberrantly reexpressed in different cancer types. The aim of this study was to investigate the expression of CT antigens in breast cancer. Patients and methods: A total of 100 selected invasive breast cancers, including 50 estrogen receptor (ER) positive/HER2 negative and 50 triple negative (TN), were examined for NY-ESO-1 and MAGE-A expression by immunohistochemistry. Results: A significantly higher expression of MAGE-A and NY-ESO-1 was detected in TN breast cancers compared with ER-positive tumors (P = 0.04). MAGE-A expression was detected in 13 (26%) TN cancers compared with 5 (10%) ER-positive tumors (P = 0.07). NY-ESO-1 expression was confirmed in nine (18%) TN tumor samples compared with two (4%) ER-positive tumors. Conclusions: MAGE-A and NY-ESO-1 CT antigens are expressed in a substantial proportion of TN breast cancers. Because of the limited therapeutic options for this group of patients, CT antigen-based vaccines might prove to be useful for patients with this phenotype of breast cance

The scientist' experience in participated science communication

Since 2006 a small group of researchers from the Italian National Institute for Nuclear Physics started to realized one of the first European Researchers' Night in Europe: a one night-event, supported by the European Commission, that falls every last Friday of September to promote the researcher's figure and its work. Today, after thirteen editions, the project has evolved by involving more than 60 scientific partners and more than 400 events/year spread from the North to the South of Italy in 30 cities, captivating more than 50.000 attendees with a not negligible impact on the people and the press. During the years, the project has followed and sometimes anticipated the science communication trend, and BEES (BE a citizEn Scientist) is the last step of this long and thrilling evolution that brought to a huge public engagement in our territory. The experience, the methodology, and the major successful examples of the organized events are presented together with the results of the long term project impact