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Pagano G.,Instituto Nazionale Tumori Fondazione G Pascale Irccs | Aiello Talamanca A.,Instituto Nazionale Tumori Fondazione G Pascale Irccs | Castello G.,Instituto Nazionale Tumori Fondazione G Pascale Irccs | Cordero M.D.,University of Seville | And 6 more authors.
Oxidative Medicine and Cellular Longevity | Year: 2014

Beyond the disorders recognized as mitochondrial diseases, abnormalities in function and/or ultrastructure of mitochondria have been reported in several unrelated pathologies. These encompass ageing, malformations, and a number of genetic or acquired diseases, as diabetes and cardiologic, haematologic, organ-specific (e.g., eye or liver), neurologic and psychiatric, autoimmune, and dermatologic disorders. The mechanistic grounds for mitochondrial dysfunction (MDF) along with the occurrence of oxidative stress (OS) have been investigated within the pathogenesis of individual disorders or in groups of interrelated disorders. We attempt to review broad-ranging pathologies that involve mitochondrial-specific deficiencies or rely on cytosol-derived prooxidant states or on autoimmune-induced mitochondrial damage. The established knowledge in these subjects warrants studies aimed at elucidating several open questions that are highlighted in the present review. The relevance of OS and MDF in different pathologies may establish the grounds for chemoprevention trials aimed at compensating OS/MDF by means of antioxidants and mitochondrial nutrients. © 2014 Giovanni Pagano et al.


PubMed | ASL Naples 1, The Second University of Naples and ASL Naples
Type: | Journal: BMJ case reports | Year: 2014

The presence of a left bundle-branch block (LBBB) among firefighters raises questions about stratifying risk of subsequent cardiovascular events as this conduction disorder may mask underlying coronary artery disease. This report describes the case of a firefighter with a history LBBB with exertional dyspnoea of recent onset after work activity.A 39-year-old male firefighter with LBBB developed exertional dyspnoea after a prolonged session of work. ECG and treadmill test only showed a permanent LBBB; echocardiography and myocardial scintigraphy did not add to this. However, multislice CT (MSCT) showed a significant stenosis in the mid-left anterior descending artery (LAD). Coronary angiography confirmed the stenosis with subsequent placement of a coronary stent.An occupational physician should take into account that factors such as age and low cardiovascular risk do not always exclude heart disease, especially when there are conduction system abnormalities that can mask possible coronary artery disease.


Altieri V.,ASL Naples | Capozzi O.,University of Bari | Marzano M.C.,Diagnostic Service Srl | Catapano O.,MeriGen Research Srl. | And 3 more authors.
Molecular Cytogenetics | Year: 2014

Background: Small supernumerary marker chromosomes (sSMC) occur in 0.072% of unselected cases of prenatal diagnoses, and their molecular cytogenetic characterization is required to establish a reliable karyotype-phenotype correlation. A small group of sSMC are C-band-negative and devoid of alpha-satellite DNA. We report the molecular cytogenetic characterization of a de novo analphoid sSMC derived from 18q22.1→qter in cultured amniocytes. Results: We identified an analphoid sSMC in cultured amniocytes during a prenatal diagnosis performed because of advanced maternal age. GTG-banding revealed an sSMC in all metaphases. FISH experiments with a probe specific for the chromosome 18 centromere, and C-banding revealed neither alphoid sequences nor C-banding-positive satellite DNA thereby suggesting the presence of a neocentromere. To characterize the marker in greater detail, we carried out additional FISH experiments with a set of appropriate BAC clones. The pattern of the FISH signals indicated a symmetrical organization of the marker, the breakpoint likely representing the centromere of an inverted duplicated chromosome that results in tetrasomy of 18q22.1→qter. The karyotype after molecular cytogenetic investigations was interpreted as follows: 47,XY,+inv dup(18)(qter→q22.1::q22.1→neo→qter) Conclusion: Our case is the first report, in the prenatal diagnosis setting, of a de novo analphoid marker chromosome originating from the long arm of chromosome 18, and the second report of a neocentromere formation at 18q22.1. © 2014 Altieri et al.


Menna L.F.,University of Naples Federico II | Santaniello A.,University of Naples Federico II | Gerardi F.,University of Naples Federico II | Di Maggio A.,ASL Naples | Milan G.,Geriatrician Center Frullone Naples
Psychogeriatrics | Year: 2016

Background: The aim of this study was to evaluate the efficacy of animal-assisted therapy (AAT) in elderly patients affected by Alzheimer's disease based on the formal reality orientation therapy (ROT) protocol. Methods: Our study was carried out at an Alzheimer's centre for 6 months. A homogeneous sample (age, Mini-Mental State Examination (MMSE), 15-item Geriatric Depression Scale (GDS)) of 50 patients was selected at random and successively. Patients were divided into three groups: (i) 20 patients received a course of AAT (AAT group) based on the ROT protocol; (ii) 20 patients were engaged exclusively in activities based on the ROT group; and (iii) 10 patients (control group) participated in no stimulations. MMSE and GDS were administered at time 0 (T0) and time 1 (T1) to all three groups. Differences within groups between T0 and T1 for GDS and MMSE scores were analyzed by Student's t-test. Differences between group means were analyzed using an anova test with the Bonferroni-Dunn test for post-hoc comparisons. Results: Both the AAT group and ROT group had improved GDS scores and showed a slight improvement in terms of mood. On the GDS, the AAT group improved from 11.5 (T0) to 9.5 (T1), and the ROT group improved from 11.6 (T0) to 10.5 (T1). At the same time, a slight improvement in cognitive function, as measured by the MMSE, was observed. In the AAT group, mean MMSE was 20.2 at T0 and 21.5 at T1, and in the ROT group, it was 19.9 at T0 and 20.0 at T1. In the control group, the average values of both the GDS and MMSE remained unchanged. The Bonferroni-Dunn results showed statistically significant differences between groups, particularly between the AAT group and the other two (P < 0.001). Conclusions: Pet therapy interventions based on the formal ROT protocol were effective and, compared to the ROT, provided encouraging and statistically significant results. © 2015 The Authors and 2015 Japanese Psychogeriatric Society.


PubMed | Geriatrician Center Frullone Naples, University of Naples Federico II and ASL Naples
Type: Journal Article | Journal: Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society | Year: 2016

The aim of this study was to evaluate the efficacy of animal-assisted therapy (AAT) in elderly patients affected by Alzheimers disease based on the formal reality orientation therapy (ROT) protocol.Our study was carried out at an Alzheimers centre for 6 months. A homogeneous sample (age, Mini-Mental State Examination (MMSE), 15-item Geriatric Depression Scale (GDS)) of 50 patients was selected at random and successively. Patients were divided into three groups: (i) 20 patients received a course of AAT (AAT group) based on the ROT protocol; (ii) 20 patients were engaged exclusively in activities based on the ROT group; and (iii) 10 patients (control group) participated in no stimulations. MMSE and GDS were administered at time 0 (T0 ) and time 1 (T1 ) to all three groups. Differences within groups between T0 and T1 for GDS and MMSE scores were analyzed by Students t-test. Differences between group means were analyzed using an anova test with the Bonferroni-Dunn test for post-hoc comparisons.Both the AAT group and ROT group had improved GDS scores and showed a slight improvement in terms of mood. On the GDS, the AAT group improved from 11.5 (T0 ) to 9.5 (T1 ), and the ROT group improved from 11.6 (T0 ) to 10.5 (T1 ). At the same time, a slight improvement in cognitive function, as measured by the MMSE, was observed. In the AAT group, mean MMSE was 20.2 at T0 and 21.5 at T1 , and in the ROT group, it was 19.9 at T0 and 20.0 at T1 . In the control group, the average values of both the GDS and MMSE remained unchanged. The Bonferroni-Dunn results showed statistically significant differences between groups, particularly between the AAT group and the other two (P < 0.001).Pet therapy interventions based on the formal ROT protocol were effective and, compared to the ROT, provided encouraging and statistically significant results.


PubMed | Diagnostic Service Srl, MeriGen Research Srl., ASL Naples and University of Bari
Type: Journal Article | Journal: Molecular cytogenetics | Year: 2014

Small supernumerary marker chromosomes (sSMC) occur in 0.072% of unselected cases of prenatal diagnoses, and their molecular cytogenetic characterization is required to establish a reliable karyotype-phenotype correlation. A small group of sSMC are C-band-negative and devoid of alpha-satellite DNA. We report the molecular cytogenetic characterization of a de novo analphoid sSMC derived from 18q22.1qter in cultured amniocytes.We identified an analphoid sSMC in cultured amniocytes during a prenatal diagnosis performed because of advanced maternal age. GTG-banding revealed an sSMC in all metaphases. FISH experiments with a probe specific for the chromosome 18 centromere, and C-banding revealed neither alphoid sequences nor C-banding-positive satellite DNA thereby suggesting the presence of a neocentromere. To characterize the marker in greater detail, we carried out additional FISH experiments with a set of appropriate BAC clones. The pattern of the FISH signals indicated a symmetrical organization of the marker, the breakpoint likely representing the centromere of an inverted duplicated chromosome that results in tetrasomy of 18q22.1qter. The karyotype after molecular cytogenetic investigations was interpreted as follows: 47,XY,+inv dup(18)(qterq22.1::q22.1neoqter).Our case is the first report, in the prenatal diagnosis setting, of a de novo analphoid marker chromosome originating from the long arm of chromosome 18, and the second report of a neocentromere formation at 18q22.1.

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