Effects of media violence on children. A review of the literature

The effects of media violence on the behavior of children are controversial. We examined and reviewed studies addressing this issue and identified many mediating variables. A small but genuine association appears to exist between media violence and aggression. However, many unanswered questions persist, and no interventions are clearly indicated.     

Retroviral vectors for gene therapy of Duchenne muscular dystrophy

The aim of this review is to summarize the state of art of retroviral vectors for gene therapy of Duchenne muscular dystrophy (DMD). Acutal knowledge on this matter indicates that retroviral vectors are able to transduce muscle satellite cells in vivo and that these cells can participate in muscle repair processes, even if the efficiency of transduction of satellite cells remains the limiting factor. Such a process is reminiscent of the normalization process of DMD carriers and offers hope for the development of long-term gene therapy of this disease.     

Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis

MicroRNA (miRNA)-mediate RNA interference has been identified as a novel mechanism that regulates protein expression. It is recognised that miRNAs play essential roles in the immune system and for correct function in the brain. Moreover, it is now clear that abnormal miRNA expression is a common feature of several diseases involving the immune system including multiple sclerosis (MS). Expression analysis for miR-21, miR-146a and -b, miR-150, miR-155 was carried out in peripheral mononuclear cells (PBMC) from a cohort of 29 MS patients and 19 controls. Subsequently, a case control study for miR-146 rs2910164 variant was performed in an overall population of 346 MS cases and 339 controls. A statistically significant increased expression of miR-21, miR-146a and -b was observed in relapsing remitting (RR)MS patients as compared with controls (1.44 ± 0.13 vs 0.79 ± 0.06, P = 0.036; 1.50 ± 0.12 vs 0.84 ± 0.08, P = 0.039; 1.54 ± 0.15 vs 0.72 ± 0.08, P = 0.001 respectively). On the contrary, no differences were found in the expression levels of both miR-150 and miR-155 in patients as compared with controls (P > 0.05). The genetic association study failed to find any differences in the frequencies of rs2910164 between patients and controls. miRNA dysregulation may contribute to the pathogenesis of MS and highlights the possibility to define different disease entities with specific miRNAs profile.     

Prognosis for children with acute kidney injury in the intensive care unit

To define factors of prognostic importance for critically ill infants and children with acute kidney injury (AKI), we have studied 110 children, ages from 1 month to 180 months, admitted between March 1, 2002 and September 30, 2004 to the intensive care unit of Joana de Gusmão Children’s Hospital. These patients represent 8% of all intensive care unit admissions during the entire study period. The diagnosis at admission was primary renal parenchyma disease (eight patients, 7.2%) and secondary renal disease (102 patients, 92.8%). Thirty-seven patients (33.6%) died, all of whom had secondary renal insufficiency; six patients (5.4%) died as a result of septic shock, and 31 (28.2%) patients died from multiple organ failure (MOF). The variables were analyzed using Fisher’s exact test for qualitative variables and Student’s t-test for quantitative variables. Stratified analysis was performed to assess the relative importance of variables using the Mantel–Haenszel technique. Among the variables analyzed, the following were found to be significantly related to mortality: anuria, oliguria, arterial hypotension, need for pressor drugs, need for mechanical ventilation, need for dialysis, the association with MOF, and high values of lactic acid.     

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease

We tested the hypothesis that parkin polymorphisms (SNPs) and environmental exposure (EE) interact to reduce the age of onset of idiopathic Parkinson disease (PD). We prospectively and consecutively enrolled a total of 81 Italian PD patients. The diagnosis of PD was based on the UK Parkinson's Disease Society's brain bank criteria. Twenty-one patients with a positive family history for PD or tremor were excluded from the study. We collected information about medical history and EE. PARK1, PARK2 genes and PARK8 (exon 41) were screened. We detected one parkin mutation in a single patient and three parkin polymorphisms in a total of 25 patients; no alpha synuclein mutations, no common mutations of LRKK2 gene were found. The mutation-positive patient has been excluded from the study. The cohort of the remaining 59 patients has been divided into four subgroups, according to the presence/absence of parkin polymorphisms and the presence/absence of environmental factors-exposure. The age of onset of PD was significantly lower in patients with both SNPs and EE as compared to patients without (62.18+/-9.5 years versus 71.62+/-8 years, p=0.024; -13%). Patients with either SNPs or EE had an intermediate age of onset. The association of parkin polymorphisms and environmental exposure has a strong effect in lowering the age of onset of PD; the effect of environmental exposure or parkin polymorphisms alone seems to influence modestly the age of onset of PD. Individuals with environmental/occupational exposure should be screened for the presence of parkin SNPs.     

Magnetic resonance spectroscopy in Parkinson's disease and parkinsonian syndromes

This paper looks at the use of magnetic resonance spectroscopy (MRS) for diagnostic and research purposes in Parkinson's disease and parkinsonian syndromes. The review considers both proton MRS (1H MRS) and phosphorus MRS (31 P MRS) studies. MRS is useful for diagnostic purposes, helping to differentiate Parkinson's disease from other parkinsonian syndromes. Even more usefully, MRS can be used for non invasive in vivo human research.     

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

Dysferlin, the protein product of the dysferlin gene (DYSF), has been shown to have a role in calcium-induced membrane fusion and repair.

Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy.

To date, less than 45 mutations have been described in DYSF and a wide inter- and intra-familial variation in clinical phenotype has been associated with the same mutation. This observation underlines the relevance of any new report describing genotype/phenotype correlations in dysferlinopathic patient and families.

Here we present the results of clinical, biochemical and genetic analysis performed on one MM and three LGMD Italian families. By screening the entire coding region of DYSF, we identified three novel mutations (two missense substitutions and one frame shift microdeletion). The possible existence of a founder effect for the Arg959Trp mutation in the Italian population is discussed.