Publications by authors named "Vago P"

Article Synopsis
  • The study investigated how exercise affects serum irisin levels in young (YA) and middle-aged (MA) male adults before and after an intense cycling workout.
  • Results showed that irisin levels significantly increased 15 minutes after exercise and peaked 24 hours later, with both age groups experiencing a similar increase.
  • However, young adults had higher baseline and post-exercise irisin levels compared to middle-aged adults, suggesting exercise may help mitigate age-related declines in muscle health.
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The purpose of this study was to evaluate the evolution of technical performance indicators over the course of football matches in the UEFA Champions League. Three elite football teams were the sample of the present study and were analyzed throughout four consecutive seasons within the previously mentioned competition. Data from 15 min periods were collected from Wyscout and elaborated.

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Irisin is an exercise-induced cytokine mainly secreted by myocytes. Circulating level of irisin can increase in response to acute exercise, promoting pleiotropic effects on health. Generally, irisin is evaluated in blood, however, its collection is invasive.

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Article Synopsis
  • - The study focuses on 46,XX SRY-positive males, who have a testicular disorder due to a translocation of the SRY gene, highlighting possible connections between short stature and complex chromosomal rearrangements.
  • - Research involved data from 12 laboratories, revealing that 89.5% of patients had SRY present and various X chromosome breakpoints, impacting gene structures, particularly with the ARSE gene in some cases.
  • - Despite observing differences in chromosome structure, the height comparison between patients with and without ARSE deletion showed no significant statistical difference, indicating other factors may influence stature in these individuals.
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During cancer treatments in childhood hematological malignancies, reduced exercise tolerance is one of the main hardships. Precision-based training programs help children, adolescents, and young adults and their families to resume regular physical activity, exercise, and sports once they return to their communities after the intensive phases spent in hospital. This study was aimed at verifying whether an intermittent recovery test, the Yo-Yo AD, could provide a simple and valid way to evaluate an individual’s capacity to perform repeated intense exercise and to follow up on the impact of tailored exercise in children, adolescents, and young adults with hematological malignancies.

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Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary at this stage of development. Previous studies have shown that telomere shortening is associated with growth retardation and congenital malformations.

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Article Synopsis
  • - The 10q26 subtelomeric microdeletion syndrome is a rare condition with diverse clinical symptoms, and the connections between specific genes and the resulting physical and cognitive traits remain ambiguous.
  • - This study describes two cases of a significant 860 kb deletion in the 10q26.2 region found in a fetus with growth issues and his mother, involving symptoms like distinctive facial features, club feet, and mild intellectual disabilities.
  • - It identifies the smallest deletion of this kind to date, suggesting that the genes DOCK1, INSYN2, and NPS may play crucial roles in the syndrome’s symptoms, with DOCK1 being the primary candidate for further investigation.
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Objective: Principal objective of this work was to analyse the cost effectiveness of different sequences of cytogenetic techniques from the hospital's point of view, after prenatal ultrasound has identified fetal malformations.

Methods: Cytogenetic tests were performed for each case in 3 strategies, and their results are reported and compared to one reference strategy. Two new simulated strategies were considered: chromosomal microarrays alone and a direct test + CMA.

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Children and adolescents with haematological malignancies (PedHM) are characterized by a severe loss of exercise ability during cancer treatment, lasting throughout their lives once healed and impacting their social inclusion prospects. The investigation of the effect of a precision-based exercise program on the connections between systems of the body in PedHM patients is the new frontier in clinical exercise physiology. This study is aimed at evaluating the effects of 11 weeks (3 times weekly) of combined training (cardiorespiratory, resistance, balance and flexibility) on the exercise intolerance in PedHM patients.

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Return to play (RTP) decisions in football are currently based on expert opinion. No consensus guideline has been published to demonstrate an evidence-based decision-making process in football (soccer). Our aim was to provide a framework for evidence-based decision-making in RTP following lower limb muscle injuries sustained in football.

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An innovative moderate-intensity resistive exercise-training (RT) program was tested in thirty-five sarcopenic elders (SAR). The subjects were randomized into two groups: SAR training (SAR-RT), n = 20, 73.0 ± 5.

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Article Synopsis
  • The text refers to a correction made to a previously published article with the DOI 10.1038/s41525-017-0035-2.
  • The correction likely addresses errors or omissions in the original publication.
  • This ensures that readers have access to accurate and updated information related to the research discussed in the article.
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Article Synopsis
  • Uniparental disomy (UPD) testing is advised during pregnancy for fetuses with balanced Robertsonian translocations involving chromosomes 14 or 15, which have a low estimated risk of ~0.6-0.8% for UPD.
  • A multicenter study involving 1,747 UPD tests revealed only one case of UPD(14) linked to a maternally inherited translocation, indicating a much lower risk than previously thought.
  • The updated estimated risk of UPD in these cases is about 0.06%, and since the risk of miscarriage from invasive testing is higher, prenatal UPD testing is not recommended, and parents can be reassured.
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Article Synopsis
  • * Analysis of data from over 16,000 patients reveals key clinical features, such as speech delays, learning disabilities, and a noted increase in cardiovascular disease risk, with most duplications inherited from parents.
  • * The research suggests that 16p13.11 microduplications are likely harmful in the context of neurocognitive disorders, indicating that further cardiac evaluations are necessary and highlighting the significance of specific genetic factors like miR-484.
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In high-risk neuroblastoma (HR-NB), the clinical significance of long-term minimal residual disease (MRD) monitoring using quantitative reverse transcription-polymerase chain reaction (qRT-PCR) for neuroblastoma mRNAs has not been investigated. We report long-term MRD follow-ups of four patients with HR-NB throughout the disease (diagnosis, remission, and relapse) and treatment course (chemotherapy, autologous and allogeneic stem cell transplantation, and donor lymphocyte and natural killer cell infusions). The results showed the stability of mRNA marker expression after different treatments and demonstrated their validity to predict relapse and assess therapeutic response.

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Research Question: Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion (IRI) carriers? How do these imbalances lead to recurrent miscarriages?

Design: This study reports a clinical and molecular study of a rare familial balanced IRI resulting in recurrent spontaneous miscarriage. Sperm FISH was performed to estimate the number of unbalanced gametes.

Results: A 31-year-old healthy male (proband) and his 28-year-old female partner were referred to the Genetics Department for three spontaneous miscarriages occurring during the first trimester of pregnancy.

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Article Synopsis
  • Phelan-McDermid syndrome (PMS) is a genetic condition linked to deletions on chromosome 22q13, leading to symptoms like intellectual disability, speech delays, and autism spectrum disorders, with severity varying across individuals.
  • The study involved analyzing 85 patients and found that 28% had abnormalities in the corpus callosum, a brain structure important for communication between hemispheres, and identified genomic regions that may contribute to specific symptoms like lack of speech.
  • Additionally, researchers found significant genetic variations that might influence the severity of PMS and noted that some family members with the deletion could remain unaffected, indicating potential compensatory mechanisms for managing the disorder.
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In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes.

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Upregulation of the telomerase reverse transcriptase () gene in human cancers leads to telomerase activation, which contributes to the growth advantage and survival of tumor cells. Molecular mechanisms of upregulation are complex, tumor-specific and can be clinically relevant. To investigate these mechanisms in breast cancer, we sequenced the promoter, evaluated copy number changes and assessed the expression of the oncogene, a known transcriptional regulator, in two breast cancer cohorts comprising a total of 122 patients.

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Dysfunctional telomeres and DNA damage repair (DDR) play important roles in cancer progression. Studies have reported correlations between these factors and tumour aggressiveness and clinical outcome in breast cancer. We studied the characteristics of telomeres and expression of ERCC1, a protein involved in a number of DNA repair pathways and in telomere homeostasis, to assess their prognostic value, alone or in combination, in 90 residual breast tumours after treatment with neoadjuvant chemotherapy (NCT).

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In chronic lymphocytic leukemia (CLL), telomere dysfunction is associated with poor outcomes. TP53 is involved in cellular responses to dysfunctional telomeres, and its inactivation is the strongest adverse prognostic factor for CLL. Given the biological relationship between TP53 and telomeres, and their prognostic value, it is important to improve our understanding of the impact of TP53 alterations on telomeres.

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[THE RIGHT TO A CHROMOSOMICALLY PERFECT CHILD].

J Int Bioethique Ethique Sci

July 2015

After defining the terms "perfect," "chromosomically" and "right" we discuss on the scope and terms of the right to a chromosomically perfect child. This right is it addressed to a target population or to the general population? What are the exams available and the means of diagnosis or screening to be implemented? The practice of genetic testing being highly controlled, some rules are then discussed. All over the paper, a reflection is proposed on what is allowed versus what is possible with reference to ethics.

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