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| 2. |
- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 3. |
- Onofri, E, et al.
(författare)
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Dysgraphia in Relation to Cognitive Performance in Patients with Alzheimer’s Disease
- 2013
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Ingår i: Journal of Intellectual Disability - Diagnosis and Treatment. - : Lifescience Global. - 2292-2598. ; 1:2, s. 113-124
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Tidskriftsartikel (refereegranskat)abstract
- Dysgraphia has been observed in patients presenting mild to moderate levels of Alzheimer’s disease (AD) in several studies. In the present study, 30 AD patients and 30 matched healthy controls, originating from the Lazio region, Rome, Italy, were examined on tests of letter-writing ability and cognitive performance over a series of 10 test days that extended over 19 days (Test days: 1, 3, 5, 7, 9 11, 13, 15, 17, and 19). Consistent deficits by the AD patients over the initial cognition test (PQ1), 2nd cognition test (PQ2) and the difference between them (D∆), expressing deterioration, and writing-time compared the group of healthy control subjects were obtained. Furthermore, the performances of the AD patients on the PQ1, D∆ and writing-time, but not the PQ2, tests deteriorated from the 1st five days of testing (Days 1-9) to the 2nd five days (11-19). Both AD patients’ and healthy controls’ MMSE scores were markedly and significantly correlated with performance of PQ1, writing-time and PQ2. The extent of dysgraphia and progressive deficits in the AD patients implicate multiple brain regions in the loss of functional integrity.
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| 6. |
- Ricci, S., et al.
(författare)
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Altered Cytokine and BDNF Levels in Autism Spectrum Disorder
- 2013
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Ingår i: Neurotoxicity research. - : Springer. - 1029-8428 .- 1476-3524. ; 24:4, s. 491-501
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Tidskriftsartikel (refereegranskat)abstract
- The contribution of neuroimmune functioning and brain-derived neurotrophic factor (BDNF) to functional dysregulation in autism spectrum disorder was assessed in 29 patients under treatment in two specialized centers of Basilicata (Chiaromonte and Matera), Southern Italy, through analysis of serum levels of cytokines and BDNF. Elevated levels of the pro-inflammatory cytokine, including interleukin-1, interleukin-6, interleukin-12, interleukin-23, tumor necrosis factor-alpha and BDNF were observed, regardless of age and gender. Comparisons were made with age-and gender-related healthy controls. The present findings reinforce current notions regarding immunoexcitotoxic mechanisms contributing to the pathophysiology of autistic disorder.
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| 7. |
- Massoni, F., et al.
(författare)
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Psychopathology and neoplastic disease: Medico-social and medico-legal considerations
- 2017
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Ingår i: Clinica Terapeutica. - 0009-9074. ; 168:1, s. 48-53
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Forskningsöversikt (refereegranskat)abstract
- The cognitive disability associated with stress in patients presenting cancer disease may exert a significant impact on the psychological health of the individual and even deteriorate the clinical diagnosis. The present study consists of a review of the available literature and an analysis of the association between psychopathologic disease and cancer by selecting useful contributions to the medicosocial discussion of the topic. Interesting considerations have emerged on the epidemiology and pathogenesis of the association between psychopathology and cancer that initiated possibilities towards a greater accuracy in the assessment of the patient that is not only limited to oncologic problems and outcomes. © Società Editrice Universo (SEU).
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| 8. |
- Onofri, E., et al.
(författare)
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Effect of cognitive fluctuation on handwriting in Alzheimer's patient: A case study
- 2015
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Ingår i: Acta Medica Mediterranea. - 0393-6384. ; 31:3, s. 751-755
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: The older population is rapidly growing in the European states and across the globe; and in aging we notice a cognitive declines, a decrease in memory and decision-making abilities. Characteristics of the cognitive fluctuations occur infrequently in the elderly, but they are present in patients with dementia. Fluctuating cognition and abilities have been described as periods of behavioral and thought confusion, inattention, and incoherent speech alternating with episodes of lucidity. It is common in Dementia with Lewy bodies (DLB), however, the role of fluctuations in Alzheimer 's disease (AD) has not been much considered. Case presentation: The present study examines the relationship between cognitive status and handwritten scripts, presented as 'letter-writing' in AD patient, as oscillations of the symptoms phase. Discussion: We present evidence that the deficits of attention and its fluctuations and the cognitive impairment are related with the handwritten expression.
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| 9. |
- Onofri, E., et al.
(författare)
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Legal medical consideration of Alzheimer's disease patients' dysgraphia and cognitive dysfunction: a 6 month follow up
- 2016
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Ingår i: Clinical Interventions in Aging. - : Informa UK Limited. - 1178-1998. ; 11, s. 279-284
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Tidskriftsartikel (refereegranskat)abstract
- Background: The purpose of this study was to investigate the ability of Alzheimer's disease (AD) patients to express intentions and desires, and their decision-making capacity. This study examines the findings from a 6-month follow-up of our previous results in which 30 patients participated. Materials and methods: The patient's cognition was examined by conducting the tests of 14 questions and letter-writing ability over a period of 19 days, and it was repeated after 6 months. The difference between these two cognitive measures (PQ1 before-PQ2 before), tested previously and later the writing test, was designated D Delta before. The test was repeated after 6 months, and PQ1 after-PQ2 after was designated D Delta after. Results: Several markedly strong relationships between dysgraphia and other measures of cognitive performance in AD patients were observed. The most aged patients (over 86 years), despite less frequency, maintain the cognitive capacity manifested in the graphic expressions. A document, written by an AD patient presents an honest expression of the patient's intention if that document is legible, clear, and comprehensive. Conclusion: The identification of impairment/ deficits in writing and cognition during different phases of AD may facilitate the understanding of disease progression and identify the occasions during which the patient may be considered sufficiently lucid to make decisions.
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