Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 161
Filtrar
1.
EMBO Rep ; 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38943004

RESUMO

Centrosomes are the canonical microtubule organizing centers (MTOCs) of most mammalian cells, including spermatocytes. Centrosomes comprise a centriole pair within a structurally ordered and dynamic pericentriolar matrix (PCM). Unlike in mitosis, where centrioles duplicate once per cycle, centrioles undergo two rounds of duplication during spermatogenesis. The first duplication is during early meiotic prophase I, and the second is during interkinesis. Using mouse mutants and chemical inhibition, we have blocked centriole duplication during spermatogenesis and determined that non-centrosomal MTOCs (ncMTOCs) can mediate chromosome segregation. This mechanism is different from the acentriolar MTOCs that form bipolar spindles in oocytes, which require PCM components, including gamma-tubulin and CEP192. From an in-depth analysis, we identified six microtubule-associated proteins, TPX2, KIF11, NuMA, and CAMSAP1-3, that localized to the non-centrosomal MTOC. These factors contribute to a mechanism that ensures bipolar MTOC formation and chromosome segregation during spermatogenesis when centriole duplication fails. However, despite the successful completion of meiosis and round spermatid formation, centriole inheritance and PLK4 function are required for normal spermiogenesis and flagella assembly, which are critical to ensure fertility.

2.
J Cell Sci ; 135(13)2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35694956

RESUMO

Chromosome segregation requires that centromeres properly attach to spindle microtubules. This essential step regulates the accuracy of cell division and must therefore be precisely regulated. One of the main centromeric regulatory signaling pathways is the haspin-H3T3ph-chromosomal passenger complex (CPC) cascade, which is responsible for the recruitment of the CPC to the centromeres. During mitosis, the haspin kinase phosphorylates histone H3 at threonine 3 (H3T3ph), an essential epigenetic mark that recruits the CPC, in which the catalytic component is Aurora B kinase (AURKB). However, the centromeric haspin-H3T3ph-CPC pathway remains largely uncharacterized in mammalian male meiosis. We have analyzed haspin functions by either its chemical inhibition with LDN-192960 in cultured spermatocytes, or the ablation of the Haspin gene in Haspin-/- mice. Our studies suggest that haspin kinase activity is required for proper chromosome congression both during meiotic divisions and for the recruitment of Aurora B and kinesin MCAK (also known as KIF2C) to meiotic centromeres. However, the absence of H3T3ph histone mark does not alter borealin (or CDCA8) and SGO2 centromeric localization. These results add new and relevant information regarding the regulation of the haspin-H3T3ph-CPC pathway and centromere function during meiosis.


Assuntos
Aurora Quinase B , Segregação de Cromossomos , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas Serina-Treonina Quinases , Animais , Aurora Quinase B/genética , Aurora Quinase B/metabolismo , Proteínas de Ciclo Celular/metabolismo , Centrômero/metabolismo , Histonas/metabolismo , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Cinesinas/genética , Masculino , Mamíferos/metabolismo , Meiose/genética , Camundongos , Mitose , Fosforilação , Proteínas Serina-Treonina Quinases/genética , Treonina/metabolismo
3.
Vox Sang ; 119(6): 590-597, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38523363

RESUMO

BACKGROUND AND OBJECTIVES: Changes in RHD generate variations in protein structure that lead to antigenic variants. The classical model divides them into quantitative (weak and Del) and qualitative (partial D). There are two types of protein antigens: linear and conformational. Computational biology analyses the theoretical assembly of tertiary protein structures and allows us to identify the 'topological' differences between isoforms. Our aim was to determine the theoretical antigenic differences between weak RhD variants compared with normal RhD based on structural analysis using bioinformatic techniques. MATERIALS AND METHODS: We analysed the variations in secondary structures and hydrophobicity of RHD*01, RHD*01W.1, W2, W3, RHD*09.03.01, RHD*09.04, RHD*11, RHD*15 and RHD*21. We then modelled the tertiary structure and calculated their probable antigenic regions, intra-protein interactions, displacement and membrane width and compared them with Rhce. RESULTS: The 10 proteins are similar in their secondary structure and hydrophobicity, with the main differences observed in the exofacial coils. We identified six potential antigenic regions: one that is unique to RhD (R3), one that is common to all D (R6), three that are highly variable among RhD isoforms (R1, R2 and R4), one that they share with Rhce (R5) and two that are unique to Rhce (Ra and Rbc). CONCLUSION: The alloimmunization capacity of these subjects could be explained by the variability of the antigen pattern, which is not necessarily recognized or recognized with lower intensity by the commercially available antibodies, and not because they have a lower protein concentration in the membrane.


Assuntos
Biologia Computacional , Sistema do Grupo Sanguíneo Rh-Hr , Sistema do Grupo Sanguíneo Rh-Hr/genética , Sistema do Grupo Sanguíneo Rh-Hr/química , Sistema do Grupo Sanguíneo Rh-Hr/imunologia , Humanos , Biologia Computacional/métodos , Interações Hidrofóbicas e Hidrofílicas , Estrutura Secundária de Proteína , Variação Antigênica
4.
Vox Sang ; 118(10): 881-890, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37559188

RESUMO

BACKGROUND AND OBJECTIVES: Computational biology analyses the theoretical tertiary structure of proteins and identifies the 'topological' differences between RhD and RhCE. Our aim was to identify the theoretical structural differences between the four isoforms of RhCE and RhD using computational biological tools. MATERIALS AND METHODS: Physicochemical profile was determined by hydrophobicity and electrostatic potential analysis. Secondary and tertiary structures were generated using computational biology tools. The structures were evaluated and validated using Ramachandran algorithm, which calculates the single score, p-value and root mean square deviation (RMSD). Structures were overlaid on local refinement of 'RhAG-RhCE-ANK' (PBDID 7uzq) and RhAG to compare their spatial distribution within the membrane. RESULTS: All proteins differed in surface area and electrostatic distance due to variations in hydrophobicity and electrostatic potential. The RMSD between RhD and RhCE was 0.46 ± 0.04 Å, and the comparison within RhCE was 0.57 ± 0.08 Å. The percentage of amino acids in the hydrophobic thickness was 50.24% for RhD while for RhCE it ranged between 73.08% and 76.68%. The RHAG hydrophobic thickness was 34.2 Å, and RhCE's hydrophobic thickness was 33.83 Å. We suggest that the C/c antigens differ exofacially at loops L1 and L2. For the E/e antigens, the difference lies in L6. By contrast, L4 is the same for all proteins except Rhce. CONCLUSION: The physicochemical properties of Rh proteins made them different, although their genes are homologous. Using computational biology, we model structures with sufficient precision, similar to those obtained experimentally. An amino acid variation alters the folding of the tertiary structure and the interactions with other proteins, modifying the electrostatic environment, the spatial conformations and therefore the antigenic recognition.

5.
EMBO Rep ; 22(4): e51030, 2021 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-33615693

RESUMO

Cell division requires the regulation of karyokinesis and cytokinesis, which includes an essential role of the achromatic spindle. Although the functions of centrosomes are well characterised in somatic cells, their role during vertebrate spermatogenesis remains elusive. We have studied the dynamics of the meiotic centrosomes in male mouse during both meiotic divisions. Results show that meiotic centrosomes duplicate twice: first duplication occurs in the leptotene/zygotene transition, while the second occurs in interkinesis. The maturation of duplicated centrosomes during the early stages of prophase I and II are followed by their separation and migration to opposite poles to form bipolar spindles I and II. The study of the genetic mouse model Plk1(Δ/Δ) indicates a central role of Polo-like kinase 1 in pericentriolar matrix assembly, in centrosome maturation and migration, and in the formation of the bipolar spindles during spermatogenesis. In addition, in vitro inhibition of Polo-like kinase 1 and Aurora A in organotypic cultures of seminiferous tubules points out to a prominent role of both kinases in the regulation of the formation of meiotic bipolar spindles.


Assuntos
Proteínas de Ciclo Celular , Centrossomo , Animais , Proteínas de Ciclo Celular/genética , Masculino , Meiose , Camundongos , Proteínas Serina-Treonina Quinases , Proteínas Proto-Oncogênicas/genética , Fuso Acromático , Quinase 1 Polo-Like
6.
Eur J Pediatr ; 182(2): 669-687, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36443504

RESUMO

We aimed to analyse the longitudinal association between physical fitness (PF) and body composition (BC) with a metabolic risk score (Met4) in children and adolescents and to elucidate whether the association between PF and Met4 differs when using relativized or absolute fitness variables. A total of 188 children (86 females) and 195 adolescents (97 females) were included. Cardiorespiratory fitness (CRF) was determined by the 20-m shuttle run test, and muscular fitness (MF) was determined by hand grip and standing long jump tests. Height and weight were measured, and the body mass index (Kg/m2) was calculated. Triceps and subscapular skinfolds were assessed to compute body fat percentage. Met4 was computed from systolic blood pressure, triglycerides, high-density lipoprotein cholesterol, and glucose levels. Relative CRF was longitudinally and negatively associated with Met4 in female children (ß = -0.031, p = 0.025), while absolute CRF was positively associated with Met4 in male children and adolescents (ß = 0.000, p < 0.05). Relative upper and lower-body MF were longitudinally and negatively associated with Met4 in female adolescents (ß = -1.347, ß = -0.005, p < 0.05), while absolute lower-body MF was positively associated with Met4 in male children (ß = 0.000, p = 0.019). BC was longitudinally and positively associated with Met4 in male children (ß-ranging from 0.011 to 0.055, all p < 0.05) and male adolescents (ß-ranging from 0.011 to 0.046, all p < 0.05).  Conclusion: BC is more strongly associated with Met4 than PF in children and adolescents. An optimal body weight status should be considered the main objective of health-promoting programs at childhood and adolescence. Furthermore, the way of expressing the fitness variables determines the direction of the association with Met4. What is Known: • Physical fitness is an important health indicator in children and adolescents, with great amount of previous evidence supporting the preventive role of maintaining optimal levels of both cardiorespiratory and muscular fitness for future cardiometabolic issues. What is New: • The way of reporting physical fitness variables can affect the associations between physical fitness features and cardiometabolic outcomes. Since body composition variables have a great impact on both physical fitness and cardiometabolic health, relativizing physical fitness performance by body composition could lead to erroneous conclusions.


Assuntos
Aptidão Cardiorrespiratória , Doenças Cardiovasculares , Humanos , Masculino , Adolescente , Feminino , Criança , Força Muscular/fisiologia , Força da Mão , Aptidão Física/fisiologia , Aptidão Cardiorrespiratória/fisiologia , Fatores de Risco , Índice de Massa Corporal , Composição Corporal , Doenças Cardiovasculares/prevenção & controle
7.
Proc Natl Acad Sci U S A ; 117(2): 1090-1096, 2020 01 14.
Artigo em Inglês | MEDLINE | ID: mdl-31896583

RESUMO

In the tetrapod limb, the digits (fingers or toes) are the elements most subject to morphological diversification in response to functional adaptations. However, despite their functional importance, the mechanisms controlling digit morphology remain poorly understood. Here we have focused on understanding the special morphology of the thumb (digit 1), the acquisition of which was an important adaptation of the human hand. To this end, we have studied the limbs of the Hoxa13 mouse mutant that specifically fail to form digit 1. We show that, consistent with the role of Hoxa13 in Hoxd transcriptional regulation, the expression of Hoxd13 in Hoxa13 mutant limbs does not extend into the presumptive digit 1 territory, which is therefore devoid of distal Hox transcripts, a circumstance that can explain its agenesis. The loss of Hoxd13 expression, exclusively in digit 1 territory, correlates with increased Gli3 repressor activity, a Hoxd negative regulator, resulting from increased Gli3 transcription that, in turn, is due to the release from the negative modulation exerted by Hox13 paralogs on Gli3 regulatory sequences. Our results indicate that Hoxa13 acts hierarchically to initiate the formation of digit 1 by reducing Gli3 transcription and by enabling expansion of the 5'Hoxd second expression phase, thereby establishing anterior-posterior asymmetry in the handplate. Our work uncovers a mutual antagonism between Gli3 and Hox13 paralogs that has important implications for Hox and Gli3 gene regulation in the context of development and evolution.


Assuntos
Extremidades/crescimento & desenvolvimento , Proteínas de Homeodomínio/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Fatores de Transcrição/metabolismo , Proteína Gli3 com Dedos de Zinco/metabolismo , Animais , Padronização Corporal , Regulação da Expressão Gênica no Desenvolvimento , Proteínas de Homeodomínio/genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Proteínas do Tecido Nervoso/genética , Fatores de Transcrição/genética , Transcriptoma , Proteína Gli3 com Dedos de Zinco/genética
8.
Proc Natl Acad Sci U S A ; 117(48): 30509-30519, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-33199643

RESUMO

Vertebrate Hox genes are critical for the establishment of structures during the development of the main body axis. Subsequently, they play important roles either in organizing secondary axial structures such as the appendages, or during homeostasis in postnatal stages and adulthood. Here, we set up to analyze their elusive function in the ectodermal compartment, using the mouse limb bud as a model. We report that the HoxC gene cluster was co-opted to be transcribed in the distal limb ectoderm, where it is activated following the rule of temporal colinearity. These ectodermal cells subsequently produce various keratinized organs such as nails or claws. Accordingly, deletion of the HoxC cluster led to mice lacking nails (anonychia), a condition stronger than the previously reported loss of function of Hoxc13, which is the causative gene of the ectodermal dysplasia 9 (ECTD9) in human patients. We further identified two mammalian-specific ectodermal enhancers located upstream of the HoxC gene cluster, which together regulate Hoxc gene expression in the hair and nail ectodermal organs. Deletion of these regulatory elements alone or in combination revealed a strong quantitative component in the regulation of Hoxc genes in the ectoderm, suggesting that these two enhancers may have evolved along with the mammalian taxon to provide the level of HOXC proteins necessary for the full development of hair and nail.


Assuntos
Ectoderma/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Genes Homeobox , Folículo Piloso/metabolismo , Unhas/metabolismo , Animais , Biomarcadores , Ectoderma/embriologia , Folículo Piloso/embriologia , Humanos , Camundongos , Camundongos Knockout , Unhas/embriologia
9.
Adapt Phys Activ Q ; 40(3): 551-559, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-36809772

RESUMO

This report aims to provide a better understanding of physical activity (PA) and related factors among Spanish children and adolescents living with disabilities. The 10 indicators used for the Global Matrix on Para Report Cards of children and adolescents living with disabilities were evaluated based on the best available data in Spain. An analysis of strengths, weaknesses, opportunities, and threats based on data provision was drafted by three experts and critically reviewed by the authorship team to provide a national perspective for each evaluated indicator. Government was the indicator with the highest grade (C+), followed by Sedentary Behaviors (C-), School (D), Overall PA (D-), and Community & Environment (F). The remaining indicators received an incomplete grade. There were low levels of PA in Spanish children and adolescents living with disabilities. Yet, opportunities to improve the current surveillance of PA among this population exist.


Assuntos
Pessoas com Deficiência , Esportes , Humanos , Criança , Adolescente , Espanha , Promoção da Saúde , Política de Saúde , Jogos e Brinquedos , Exercício Físico
10.
EMBO Rep ; 21(6): e49273, 2020 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-32285610

RESUMO

Cohesin cofactors regulate the loading, maintenance, and release of cohesin complexes from chromosomes during mitosis but little is known on their role during vertebrate meiosis. One such cofactor is PDS5, which exists as two paralogs in somatic and germline cells, PDS5A and PDS5B, with unclear functions. Here, we have analyzed their distribution and functions in mouse spermatocytes. We show that simultaneous excision of Pds5A and Pds5B results in severe defects during early prophase I while their individual depletion does not, suggesting their functional redundancy. Shortened axial/lateral elements and a reduction of early recombination nodules are observed after the strong depletion of PDS5A/B proteins. Moreover, telomere integrity and their association to the nuclear envelope are severely compromised. As these defects occur without detectable reduction in chromosome-bound cohesin, we propose that the dynamic behavior of the complex, mediated by PDS5 proteins, is key for successful completion of meiotic prophase I.


Assuntos
Meiose , Telômero , Animais , Proteínas de Ciclo Celular/genética , Masculino , Meiose/genética , Camundongos , Mitose , Espermatócitos , Complexo Sinaptonêmico , Telômero/genética
11.
Medicina (Kaunas) ; 58(6)2022 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-35744015

RESUMO

Background and Objectives: Pregnancy and postpartum are periods that imply numerous physical and psychological changes that could lead to mental health consequences. The aim of the present study is to identify whether women who had body image dissatisfaction had a higher incidence of postpartum depression 6 months after birth than women who did not have body image dissatisfaction. Materials and Methods: A descriptive cross-sectional study was designed with a sample of 450 women from two hospitals in Andalusia. Quantitative variables were age and scores on the Edinburgh Postnatal Depression Scale (EPDS) and the Body Shape Questionnaire (BSQ) for body image dissatisfaction. The qualitative variables used were marital status, self-perceived health status, diet or physical exercise, type of delivery, and others. Results: Body dissatisfaction was positively correlated with the symptomatology of postpartum depression. Thus, for each point increased in body dissatisfaction, the occurrence of depression also increased. There was a relationship between the study variables, so women who were more dissatisfied with their body image were more frequently depressed. Conclusions: In conclusion, it can be established that postpartum depression seems to be related to the presence of poor body image.


Assuntos
Insatisfação Corporal , Depressão Pós-Parto , Estudos Transversais , Depressão Pós-Parto/epidemiologia , Feminino , Humanos , Período Pós-Parto , Gravidez , Fatores de Risco
12.
Genes Immun ; 22(1): 24-34, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33531683

RESUMO

Sepsis is a life-threatening organ dysfunction condition caused by a dysregulated response to an infection that is common among patients with moderate to severe burn injury. Previously, genomic variants in Toll-like receptor 4 (TLR4), a key innate immunity receptor, have been associated with sepsis and infection susceptibility. In this study, the association of six TLR4 SNPs with sepsis after burn injury was tested in the Mexican mestizo population. We found that the rs2737190 polymorphism is associated with sepsis after burn trauma. Interestingly, the G allele and GG genotype were associated with a lower risk of developing sepsis. Since the rs2737190 SNP is in the promoter region of the TLR4 gene, we analyzed the possibility that this polymorphism regulates the TLR4 pathway. We cultured peripheral blood mononuclear cells from different genotype carriers and found, after stimulation with LPS, that carriers of the GG genotype showed a higher expression of TLR4, IL6, and TNFα than AA genotype carriers. The results suggest that the GG genotype produces an increase in the TLR4 expression, and therefore an improvement in the immune response. We conclude that the rs2737190 polymorphism may become a useful marker for genetic studies of sepsis in patients after a burn injury.


Assuntos
Queimaduras , Sepse , Queimaduras/complicações , Queimaduras/genética , Predisposição Genética para Doença , Genótipo , Humanos , Leucócitos Mononucleares , Polimorfismo de Nucleotídeo Único , Sepse/genética , Receptor 4 Toll-Like/genética
13.
Eur J Neurosci ; 54(2): 4670-4681, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34076918

RESUMO

The study of cardiovascular function with galvanic vestibular stimulation has provided evidence on the neural structures that are involved in the vestibulo-autonomic reflex. This study determined if the effect on heart rate using galvanic vestibular stimulation persists after provoking a sympathetic response and if this response differs when using unilateral or transmastoid (bilateral) stimulation. We analysed heart rate and heart rate variability using unilateral and transmastoid galvanic vestibular stimulation combined with cardiovascular reflex evoked by postural change in 24 healthy human subjects. Three electrode configurations were selected for unilateral stimulation considering the anatomical location of each semicircular canal. We compared recordings performed in seated and standing positions, and with unilateral and transmastoid stimulation. With subjects seated, a significant transient decrease in heart rate was observed with unilateral stimulation. With transmastoid stimulation, heart rate decreased in both seated and standing positions. Average intervals between normal heartbeats recorded with stimulation resemble parasympathetic cardiac function induced by auricular vagal nerve stimulation. Our results indicate that unilateral stimulation does not eliminate the natural heart rate increase caused by orthostatic hypotension. In contrast, transmastoid stimulation provoked a transient reduction in heart rate, even when subjects were standing. These responses should be considered while performing experiments with galvanic vestibular stimulation and subsequent effects in cardiac regulation mechanisms.


Assuntos
Reflexo , Vestíbulo do Labirinto , Estimulação Elétrica , Frequência Cardíaca , Humanos , Canais Semicirculares
14.
Hemoglobin ; 45(2): 87-93, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34060411

RESUMO

We present a study performed on 54 unrelated subjects, with and without thalassemic features. Two primer pairs were proposed to perform Sanger sequencing of the complete HBB gene. The bioinformatic analysis was performed taking advantage of the availability of free online tools. In the sample, we found 11 variants, 10 reported, and one novel. Among the variants found, six are clinically important: three encode a premature stop codon [codon 39 (C>T) (HBB: c.118C>T); IVS-II-1 (G>A) (HBB: c.315+1G>A), and one not reported], a double substitution within the same allele [Hb Borås (HBB: c.266T>G) and Hb Santa Giusta Sardegna (HBB: c.282T>C)], and one whose pathogenicity is not yet defined [Hb Fannin-Lubbock I (HBB: c.359G>A)]. Even though the variants Hb Borås and Hb Santa Giusta Sardegna have been described, there is no report of their combined occurrence on the same allele, which could cause hemolytic anemia. Although the p.Leu88Arg and p.Cys93Trp variants do not alter the final length of the protein, the bioinformatic results suggest that there are differences in the tertiary structure of ß-globin genes, mainly affecting helices E and F, being the motifs of interaction with the heme group. The novel variant is a 4 bp insertion that modifies the open reading frame, changing the last amino acid residue and causing a premature stop codon (HBB: c.291-294insGCAC). The variant was associated with ß-thalassemia (ß-thal). Bioinformatic analysis made it possible to predict the consequences that the new variant of the HBB gene caused on the ß-globin tertiary structure.


Assuntos
Talassemia beta , Alelos , Códon sem Sentido , Biologia Computacional , Humanos , Mutação , Globinas beta/genética , Talassemia beta/genética
15.
J Appl Res Intellect Disabil ; 34(1): 90-98, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32786159

RESUMO

BACKGROUND: The aim of this study was to examine the bidirectional longitudinal associations of several markers of fatness and physical fitness in adolescents with Down syndrome. METHODS: This study comprised a total of 111 adolescents (41 females), aged from 11 to 20 years with complete data at the baseline. We had a drop-out of <10% from the baseline to the 2-year follow-up. The ALPHA health-related fitness test battery for youth was used. RESULTS: Our results show that all fatness variables at the baseline were associated with a 2-year change in cardiorespiratory fitness (ß ranging from -0.32 to -0.38; all p < .05), but not with muscular and motor fitness (p > .05). However, no associations were found between physical fitness components as predictors and fatness indicators (p > .05). CONCLUSIONS: Results suggest that reducing fatness during adolescence might represent a modifiable factor to improve cardiorespiratory fitness at the 2-year follow-up, but not vice versa since associations were not bidirectional.


Assuntos
Aptidão Cardiorrespiratória , Síndrome de Down , Deficiência Intelectual , Adolescente , Estudos Transversais , Feminino , Humanos , Estudos Longitudinais , Aptidão Física
16.
Mol Carcinog ; 59(6): 629-639, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32219892

RESUMO

Prostate cancer (PC) is a polygenic disease with broad differences across ethnicities. BRCA1/2 and VDR have exhibited a featured genetic contribution to PC development in European populations. Nonetheless, its contribution in Latino populations specifically among Mexican men, where 70% of PC cases are detected in advanced stages, is still unknown. The contribution of seven polymorphisms in BRCA1/2 and VDR genes to PC susceptibility was evaluated in 370 incident PC cases and 759 age-matched (±5 years) controls belonging to the Mexican population. Based on Gleason score at diagnosis, PC cases were classified as well-differentiated PC (Gleason <7) and moderate or poorly differentiated PC (Gleason ≥7). Age at diagnosis was used to divided PC cases in earlier (<60 years) and late-onset PC (≥60 years). Prostate and breast cancer family histories were obtained through interview. Our results provided evidences about the contribution of BRCA1-rs1799966 (ORCC genotype = 2.30; 95% confidence interval [CI] = 1.36-3.91) to the moderate or poorly differentiated PC risk, independently of the family history of prostate, breast or ovary cancer. Further, VDR-rs2238135-G allele was associated with early-onset PC (ORG allele = 2.05; 95% CI = 1.06-3.95), and marginally with moderate or poorly differentiated PC risk. The present study revealed the crucial role of BRCA1 in PC aggressiveness risk, outstanding the gender imbalance regarding the breast cancer risk in women.


Assuntos
Proteína BRCA1/genética , Biomarcadores Tumorais/genética , Predisposição Genética para Doença , Polimorfismo Genético , Neoplasias da Próstata/genética , Neoplasias da Próstata/patologia , Receptores de Calcitriol/genética , Idoso , Estudos de Casos e Controles , Seguimentos , Genótipo , Humanos , Masculino , Prognóstico , Fatores de Risco
17.
J Sports Sci ; 38(7): 780-786, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32131698

RESUMO

The aims of this study were (i) to examine the sedentary time (ST) during different time periods [i.e., weekend, out-of-school weekdays hours, school hours, recess, physical education classes (PEC)] in children and adolescents; (ii) to identify 2-year longitudinal changes in the ST for these periods; and (iii) to examine if ST at baseline is associated with ST 2 years later. This was a 2-year follow-up study with 826 (51.9% boys) children and 678 (50.7% boys) adolescents. Accelerometers were used to assess ST. Students spent more than 60% of their weekend, out-of-school hours and school hours in ST. During these periods, girls and adolescents were more sedentary than boys and children, respectively (p < 0.05). Over 2-year follow-up, ST increased during the weekend, out-of-school hours, school hours and recess in all subgroups studied (p < 0.001). ST during PEC declined 2% per year in children (p < 0.001) but it increased in adolescents (p < 0.05). ST during the periods analysed at baseline was lowly associated with ST during these periods 2 years later (intraclass correlations from <0.001 to 0.364). Interventions in these settings may be adequate if the intention is to avoid ST increase in students.


Assuntos
Comportamento do Adolescente , Comportamento Infantil , Instituições Acadêmicas , Comportamento Sedentário , Acelerometria , Adolescente , Comportamento do Adolescente/fisiologia , Índice de Massa Corporal , Criança , Comportamento Infantil/fisiologia , Escolaridade , Feminino , Monitores de Aptidão Física , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Mães , Educação Física e Treinamento
18.
Aten Primaria ; 52(4): 250-257, 2020 04.
Artigo em Espanhol | MEDLINE | ID: mdl-30898477

RESUMO

OBJECTIVE: The aim of this study is to compare the levels of physical activity and sedentary behaviours in children with obesity and normal weight through accelerometer measures, and analyze the family environment related to physical activity. DESIGN: Case-control study. LOCATION: A health center and colleges of the Community of Madrid. PARTICIPANTS: A total of 50 obese children between 8 and 12 years of age (P > 97) and their mothers were matched by age, sex and socioeconomic status of their parents (1: 1) with 50 children with normopeso (GN; P < 85). MAIN MEASUREMENTS: Physical activity levels were measured by accelerometer (ActiGraph GT3X), levels of physical activity of the primary caregiver were measured through physical activity questionnaire (IPAQ) and the environment in relation to the physical activity was measured by the Home Environment Scale (HES-S). RESULTS: The group GO showed less vigorous physical activity than their peers in the GN group. Vigorous physical activity in the GO group was associated with modeling and parental policies regarding physical activity. A multiple regression analysis revealed that 21% of the variance of weight status of children was explained by sex, vigorous physical activity and maternal body mass index. CONCLUSIONS: The levels of vigorous physical activity and the family environment differ between children with obesity and normal weight. Therefore, it is important to continue working on the awareness of illness and the promotion of healthy habits from Primary Care and the school and institutional context.


Assuntos
Exercício Físico , Características da Família , Obesidade Infantil/epidemiologia , Comportamento Sedentário , Actigrafia/estatística & dados numéricos , Índice de Massa Corporal , Peso Corporal , Cuidadores , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Mães , Poder Familiar , Análise de Regressão , Fatores Sexuais , Classe Social , Espanha/epidemiologia
19.
Int J Clin Pract ; 73(6): e13317, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30694579

RESUMO

AIMS: There is currently no consensus on the effect of treatment with angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs), on the prognosis of patients with heart failure and preserved ejection fraction (HFpEF). Therefore, we have analysed the relationship of commencing treatment with ACEIs or ARBs and the prognosis of patients with incident HFpEF. METHODS: Retrospective study over 15 years on 3864 patients with HFpEF (GAMIC cohort). Main outcomes were mortality (all-cause and cardiovascular) and hospitalisations for HF. The independent relationship between CT-RASIs and the prognosis, stratifying patients for cardiovascular comorbidity after propensity score-matching was analysed. RESULTS: During a median follow-up of 7.94 years, 2960 died (76.6%) and 3138 were hospitalised (81.2%). Therapy with RASIs was associated with a lower mortality, all-cause (RR [95% CI] for ACEIs: 0.76 [0.66-0.86], and RR for ARBs: 0.88 [0.80-0.96]; P < 0.001 in both cases), and cardiovascular (RR for ACEIs: 0.72 [0.66-0.78], and RR for ARBs: 0.87 [0.80-0.94]; P < 0.001), a lower hospitalisation rate (RR for ACEIs: 0.82 [0.74-0.90], and RR for ARBs: 0.90 [0.82-0.98]; P < 0.001), and a lower 30-day readmission rate (RR for ACEIs: 0.66 [0.60-0.73], and RR for ARBs: 0.86 [0.75-0.97]; P < 0.001), after adjustment for the propensity to take RASIs or other medications, comorbidities and other potential confounders. Results on the effect of ARBs are compromised by the small number of patients. Analyses of recurrent hospitalisations gave larger treatment benefits than time-to-first-event analyses. CONCLUSION: In this propensity-matched study, commencing treatment with ACEIs is associated with an improved prognosis of patients newly diagnosed with incident HFpEF.


Assuntos
Antagonistas de Receptores de Angiotensina/uso terapêutico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Insuficiência Cardíaca/tratamento farmacológico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/fisiopatologia , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Pontuação de Propensão , Estudos Retrospectivos , Volume Sistólico , Resultado do Tratamento , Adulto Jovem
20.
Cultur Divers Ethnic Minor Psychol ; 25(4): 590-597, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30816750

RESUMO

OBJECTIVES: Previous research has postulated immigrant status as a relevant factor influencing eating disorder (ED) risk in adolescents. The present study assesses differences by sex in ED risk between Spanish native and immigrant adolescent populations residing in Spain and analyzes longitudinal differences in ED risk between immigrant and native adolescents over 2-year follow-up. METHOD: The study sample was 981 adolescents aged 11-19 years at baseline. ED risk was evaluated using the Spanish version of the SCOFF Questionnaire. Logistic regression was used to value associations between country of origin and ED risk prevalence by sex, as well as changes in ED risk at 2-year follow-up. RESULTS: Immigrant adolescent girls and boys presented greater ED risk than their Spanish counterparts. Prospective analyses showed that immigrant boys presented greater likelihood of acquiring ED risk over 2 years compared to Spanish adolescent boys. CONCLUSION: Immigrant adolescent populations, particularly boys, seem to be vulnerable to ED. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Comportamento do Adolescente/psicologia , Emigrantes e Imigrantes/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Adolescente , Feminino , Humanos , Modelos Logísticos , Masculino , Grupos Populacionais , Prevalência , Estudos Prospectivos , Espanha , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA