RESUMO
BACKGROUND: Identifying children and adolescents with cardiometabolic risk at an early stage is crucial for effective treatment and prevention. From a practical perspective, this could be accomplished by assessing the presence of abdominal obesity, which serves as a surrogate indicator of increased cardiometabolic risk and is easy to measure. However, the assessment of abdominal obesity via waist circumference has not yet become a standard procedure in pediatric healthcare. The present study aimed to analyze the secular trends in increased cardiometabolic risk, as indicated by waist circumference among Spanish children and adolescents. METHODS: This study included 4861 children and adolescents aged 8 to 16 years from two nationwide representative cross-sectional surveys, the EnKid study and the PASOS study, conducted in 1998-2000 and 2019-2020, respectively. Anthropometric variables were measured in both surveys by trained personnel. Three different waist-to-height (WHtR) cutoffs were used to define abdominal obesity as criteria for cardiometabolic risk. BMI categories were defined according to the IOTF and WHO growth charts. RESULTS: Abdominal obesity [waist to height ratio (cm/cm) > 0.49] significantly increased from 40.7 to 56.1% and 93.8 to 97.2% in participants with overweight and obesity, respectively, between 1998-2000 and 2019-2020 (p < 0.05). Logistic regression analysis, adjusted for sex and age, revealed that the odds of being at increased cardiometabolic risk in 2019-2020 was 1.99 (95% CI 1.48-2.67) in participants with overweight in comparison with 1998-2000. The effect size was comparable among the three WHtR criteria for abdominal obesity or the BMI categories according to IOTF and WHO boundaries. CONCLUSIONS: The prevalence of Spanish children with increased cardiometabolic risk, identified by abdominal obesity, significantly increased among those with overweight during the last two decades. This finding underlines the need of including the measurement of waist circumference as a standard procedure in pediatric practice.
Assuntos
Índice de Massa Corporal , Obesidade Abdominal , Humanos , Adolescente , Espanha/epidemiologia , Criança , Obesidade Abdominal/epidemiologia , Obesidade Abdominal/diagnóstico , Masculino , Feminino , Estudos Transversais , Prevalência , Circunferência da Cintura/fisiologia , Fatores de Risco Cardiometabólico , Doenças Cardiovasculares/epidemiologia , Obesidade Infantil/epidemiologia , Obesidade Infantil/diagnósticoRESUMO
BACKGROUND: Youth is a vulnerable period. To classify lifestyle behaviors and its relationship with health-related outcomes of Spanish children and adolescents. METHODS: Cross-sectional study including 3261 children aged 7.5-17.5 y (52.8% females). Physical activity (PA), screen-time, sleep time, adherence to Mediterranean diet (MD), weight status (WS) by validated methods. Cluster analysis was run considering chronological age. RESULTS: Six clusters were identified: C1: high screen time, low adherence to MD and sleep time (n = 431,13.20%); C2: high WS, medium adherence to MD,high sleep time, and low screen time (n = 466,14.30%); C3: young group with low screen time and high PA, adherence to MD and sleep (n = 537,16.40%); C4: worst profile regarding adherence to MD, PA, WS and sleep time (n = 609,18.70%); C5: low screen time and PA, high sleep time (n = 804,24.70%); C6: high PA and screen time, low WS (n = 414,12.70%). Mean absolute values were statistically different among PA levels, screen and sleep time, adherence to MD, age, and WS (all p < 0.001). CONCLUSIONS: The most prevalent pattern was low levels of PA, MD, and screen time, and high sleep time. The second most prevalent was characterized by very low levels of PA, sleep time, and adherence to MD, and high screen time, and WS in adolescents. IMPACT STATEMENT: The main identified lifestyle behavior was poor physical activity, low adherence to Mediterranean Diet and high screen and sleep time. Children should increase physical activity levels, adherence to Mediterranean diet, decrease screen and sleep the appropriate hours per day. Families, schools, and medical communities must work together to gloss over present and future diseases. Sleep time had not been previously included in cluster analysis with physical activity, sedentary behaviors, obesity, and nutritional status, thus the present data open a new perspective in Spanish population. Health policies should focus on promoting physical activity, Mediterranean diet, adequate sleep and reducing screen time.
Assuntos
Exercício Físico , Estilo de Vida , Feminino , Humanos , Adolescente , Criança , Masculino , Estudos Transversais , Obesidade , Comportamento SedentárioRESUMO
BACKGROUND: Validation of self-reported tools, such as physical activity (PA) questionnaires, is crucial. The aim of this study was to determine test-retest reliability, internal consistency, and the concurrent, construct, and predictive validity of the short semi-quantitative Physical Activity Unit 7 item Screener (PAU-7S), using accelerometry as the reference measurement. The effect of linear calibration on PAU-7S validity was tested. METHODS: A randomized sample of 321 healthy children aged 8-16 years (149 boys, 172 girls) from the nationwide representative PASOS study completed the PAU-7S before and after wearing an accelerometer for at least 7 consecutive days. Weight, height, and waist circumference were measured. Cronbach alpha was calculated for internal consistency. Test-retest reliability was determined by intra-class correlation (ICC). Concurrent validity was assessed by ICC and Spearman correlation coefficient between moderate to vigorous PA (MVPA) derived by the PAU-7S and by accelerometer. Concordance between both methods was analyzed by absolute agreement, weighted kappa, and Bland-Altman statistics. Multiple linear regression models were fitted for construct validity and predictive validity was determined by leave-one-out cross-validation. RESULTS: The PAU-7S overestimated MVPA by 18%, compared to accelerometers (106.5 ± 77.0 vs 95.2 ± 33.2 min/day, respectively). A Cronbach alpha of 0.76 showed an acceptable internal consistency of the PAU-7S. Test-retest reliability was good (ICC 0.71 p < 0.001). Spearman correlation and ICC coefficients of MVPA derived by the PAU-7S and accelerometers increased from 0.31 to 0.62 and 0.20 to 0.62, respectively, after calibration of the PAU-7S. Between-methods concordance improved from a weighted kappa of 0.24 to 0.50 after calibration. A slight reduction in ICC, from 0.62 to 0.60, yielded good predictive validity. Multiple linear regression models showed an inverse association of MVPA with standardized body mass index (ß - 0.162; p < 0.077) and waist to height ratio (ß - 0.010; p < 0.014). All validity dimensions were somewhat stronger in boys compared to girls. CONCLUSION: The PAU-7S shows a good test-retest reliability and acceptable internal consistency. All dimensions of validity increased from poor/fair to moderate/good after calibration. The PAU-7S is a valid instrument for measuring MVPA in children and adolescents. TRIAL REGISTRATION: Trial registration number ISRCTN34251612 .
Assuntos
Acelerometria , Exercício Físico , Inquéritos e Questionários/normas , Acelerometria/normas , Adolescente , Calibragem , Criança , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Comportamento SedentárioRESUMO
Foot ulcer is a major complication of diabetes mellitus and often precedes leg amputation. Among the different methods to achieve ulcer healing, the use of platelet-rich plasma, which is rich in multiple growth factors and cytokines and may have similarities to the natural wound healing process, is gaining in popularity. A systematic review with meta-analyses was performed to evaluate the safety and clinical effectiveness of platelet-rich plasma for the treatment of diabetic foot ulcers compared to standard treatment or any other alternative therapy. The electronic databases Medline, EMBASE, CINAHL, and Cochrane Central Register of Controlled Trials were consulted in March 2017 with no restrictions placed on the publication date. Predefined criteria were used to determine inclusion of studies and to assess their methodologic quality. Eight randomized clinical trials and two prospective longitudinal-observational studies with control group were included. Platelet-rich plasma treatment increased the likelihood of chronic wound healing (RR = 1.32; 95% CI: 1.11, 1.57, I2 = 15%) while the volume of the ulcer (MD = 0.12 cm2 ; 95% CI: 0.08, 0.16; p < 0.01; I2 = 0%) and time to complete wound healing (MD = -11.18 days; 95% CI: -20.69, -1.68; I2 = 53%) decreased. Regarding safety profile, platelet-rich plasma did not differ from standard treatment in terms of probability of occurrence of wound complications (RR = 0.57; 95% CI: 0.25, 1.28; I2 = 0%) or recurrences (RR = 2.76; 95% CI: 0.23, 33.36; p = 0.43; I2 = 82%) but it decreased the rate of adverse events (RR = 0.80; 95% CI: 0.66, 0.96; p = 0.02; I2 = 0%). Cumulative meta-analysis revealed that there is enough evidence to demonstrate a statistically significant benefit. However, studies included presented serious methodologic flaws. According to the results, platelet-rich plasma could be considered a candidate treatment for nonhealing of diabetic foot ulcers.
Assuntos
Pé Diabético/terapia , Plasma Rico em Plaquetas , Pé Diabético/fisiopatologia , Humanos , Estudos Observacionais como Assunto , Transfusão de Plaquetas/métodos , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Cicatrização/fisiologiaRESUMO
The pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced GATA2 and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells. Both patients (father and son, P1 and P2) died in 2011 of H1N1pdm IAV infection at the ages of 54 and 31 years, respectively. They had not suffered from severe or moderately severe infections in the last 17 (P1) and 15 years (P2). A daughter of P1 had died at 20 years from infectious complications. Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence GATA2. Patients were heterozygous for a novel, hypomorphic, R396L mutation leading to haplo-insufficiency. B- and T-cell rearrangement in peripheral blood from P1 during the influenza episode showed expansion of one major clone. No T-cell receptor excision circles were detected in P1 and P3 since they were 35 and 18 years, respectively. Both patients presented an exuberant, interferon (IFN)-γ-mediated hypercytokinemia during H1N1pdm infection. No data about patients with viremia was available. Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood. However, a role of other genetic variants involved in immune responses cannot be ruled out. Patients with GATA2 deficiency can reach young adulthood without severe infections, including influenza, despite long-lasting complete B-cell and natural killer (NK) cell deficiency, as well as profoundly diminished T-cell thymic output.
Assuntos
Deficiência de GATA2/complicações , Influenza Humana/diagnóstico , Influenza Humana/etiologia , Biomarcadores , Citocinas/sangue , Análise Mutacional de DNA , Evolução Fatal , Feminino , Deficiência de GATA2/diagnóstico , Deficiência de GATA2/genética , Fator de Transcrição GATA2/genética , Humanos , Imunofenotipagem , Vírus da Influenza A , Influenza Humana/virologia , Subpopulações de Linfócitos/imunologia , Subpopulações de Linfócitos/metabolismo , Masculino , Mutação , LinhagemRESUMO
BACKGROUND: Interleukin 12Rß1 (IL-12Rß1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon γ production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12Rß1 deficiency. RESULTS: Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. CONCLUSIONS: Patients who are deficient in IL-12Rß1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients.
Assuntos
Candidíase/imunologia , Candidíase/patologia , Subunidade beta 1 de Receptor de Interleucina-12/deficiência , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados da Assistência ao Paciente , RecidivaRESUMO
BACKGROUND: Besides serum levels of PSA, there is a lack of prostate cancer specific biomarkers. It is need to develop new biological markers associated with the tumor behavior which would be valuable to better individualize treatment. The aim of this study was to elucidate the relationship between single nucleotide polymorphisms (SNPs) in genes involved in DNA repair and prostate cancer progression. METHODS: A total of 494 prostate cancer patients from a Spanish multicenter study were genotyped for 10 SNPs in XRCC1, ERCC2, ERCC1, LIG4, ATM and TP53 genes. The SNP genotyping was made in a Biotrove OpenArray® NT Cycler. Clinical tumor stage, diagnostic PSA serum levels, and Gleason score at diagnosis were obtained for all participants. Genotypic and allelic frequencies were determined using the web-based environment SNPator. RESULTS: SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate cancer aggressiveness. Patients wild homozygous for these SNPs (AA and TT, respectively) were at higher risk for developing cT2b - cT4 (OR = 2.21 (confidence interval (CI) 95% 1.47 - 3.31), p < 0.001) and Gleason scores ≥ 7 (OR = 2.22 (CI 95% 1.38 - 3.57), p < 0.001), respectively. Moreover, those patients wild homozygous for both SNPs had the greatest risk of presenting D'Amico high-risk tumors (OR = 2.57 (CI 95% 1.28 - 5.16)). CONCLUSIONS: Genetic variants at DNA repair genes are associated with prostate cancer progression, and would be taken into account when assessing the malignancy of prostate cancer.
Assuntos
Reparo do DNA , Progressão da Doença , Polimorfismo de Nucleotídeo Único , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/genética , Proteínas Mutadas de Ataxia Telangiectasia/genética , Biomarcadores/sangue , Estudos de Coortes , Dano ao DNA/genética , DNA Ligase Dependente de ATP , DNA Ligases/genética , Proteínas de Ligação a DNA/genética , Endonucleases/genética , Frequência do Gene , Genótipo , Humanos , Modelos Logísticos , Masculino , Gradação de Tumores , Prognóstico , Antígeno Prostático Específico/sangue , Fatores de Risco , Espanha , Proteína Supressora de Tumor p53/genética , População Branca/genética , Proteína 1 Complementadora Cruzada de Reparo de Raio-X , Proteína Grupo D do Xeroderma Pigmentoso/genéticaRESUMO
INTRODUCTION: Inherited variability in host immune responses influences susceptibility and outcome of Influenza A virus (IAV) infection, but these factors remain largely unknown. Components of the innate immune response may be crucial in the first days of the infection. The collectins surfactant protein (SP)-A1, -A2, and -D and mannose-binding lectin (MBL) neutralize IAV infectivity, although only SP-A2 can establish an efficient neutralization of poorly glycosylated pandemic IAV strains. METHODS: We studied the role of polymorphic variants at the genes of MBL (MBL2), SP-A1 (SFTPA1), SP-A2 (SFTPA2), and SP-D (SFTPD) in 93 patients with H1N1 pandemic 2009 (H1N1pdm) infection. RESULTS: Multivariate analysis showed that two frequent SFTPA2 missense alleles (rs1965708-C and rs1059046-A) and the SFTPA2 haplotype 1A(0) were associated with a need for mechanical ventilation, acute respiratory failure, and acute respiratory distress syndrome. The SFTPA2 haplotype 1A(1) was a protective variant. Kaplan-Meier analysis and Cox regression also showed that diplotypes not containing the 1A(1) haplotype were associated with a significantly shorter time to ICU admission in hospitalized patients. In addition, rs1965708-C (P = 0.0007), rs1059046-A (P = 0.0007), and haplotype 1A(0) (P = 0.0004) were associated, in a dose-dependent fashion, with lower PaO2/FiO2 ratio, whereas haplotype 1A(1) was associated with a higher PaO2/FiO2 ratio (P = 0.001). CONCLUSIONS: Our data suggest an effect of genetic variants of SFTPA2 on the severity of H1N1pdm infection and could pave the way for a potential treatment with haplotype-specific (1A(1)) SP-A2 for future IAV pandemics.
Assuntos
Vírus da Influenza A Subtipo H1N1 , Influenza Humana/genética , Proteína A Associada a Surfactante Pulmonar/genética , Adulto , Pressão Sanguínea , Feminino , Haplótipos , Hospitalização , Humanos , Influenza Humana/fisiopatologia , Masculino , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
BACKGROUND: NKX2-1, a crucial transcription factor in thyroid, lung, and brain development, is associated with rare disorders featuring thyroid dysfunction, neurological abnormalities, and respiratory symptoms. The primary challenge in managing NKX2-1-related disorders (NKX2-1-RD) is early diagnosis of the genetic defect and treating specific endocrine disorders. Levothyroxine (LT4) serves as the standard hypothyroidism treatment, with required dosages influenced by the severity of the individual's disorder, which varies widely among affected individuals. OBJECTIVES: This systematic review aims to assess the effectiveness of LT4 treatment in NKX2-1-RD and explore optimal dosing strategies. The primary focus is on the challenges associated with the prompt diagnosis of genetic defects, rather than the established treatment protocols for individual endocrine failures. METHODS: Adhering to PRISMA guidelines, the review includes 42 studies involving 110 genetically confirmed NKX2-1-RD patients with hypothyroidism. The study investigates congenital hypothyroidism as the most prevalent endocrine alteration, along with gestational and overt hypothyroidism. The administration of LT4 treatment, dosages, and patient responses are analyzed. RESULTS: Among the findings, congenital hypothyroidism emerges as the predominant endocrine alteration in 41% of patients. Notably, LT4 treatment is administered in only 10% of cases, with a mean dose of 52 µg/day. The variability in initiation and dosage is likely influenced by the age at diagnosis. Positive responses, characterized by TSH adjustments within normal ranges, are observed in 11 monitored patients. CONCLUSIONS: Early detection of congenital hypothyroidism is emphasized for timely LT4 initiation. Challenges in standardization are highlighted due to the variability in clinical manifestations and diagnostic procedures across NKX2-1-RD cases. While this review provides valuable insights into thyroid and pituitary disease treatment, limited details on LT4 treatment represent a significant study limitation. Key reporting points for future case studies are proposed to enhance the understanding and management of NKX2-1-RD hypothyroidism.
Assuntos
Hipotireoidismo Congênito , Glândula Tireoide , Fator Nuclear 1 de Tireoide , Tiroxina , Humanos , Fator Nuclear 1 de Tireoide/genética , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/genética , Hipotireoidismo Congênito/diagnóstico , Tiroxina/uso terapêutico , Tiroxina/administração & dosagem , Glândula Tireoide/fisiopatologia , Glândula Tireoide/metabolismo , Hipotireoidismo/tratamento farmacológico , Feminino , SeguimentosRESUMO
BACKGROUND: NKX2-1-related disorders (NKX2-1-RD) are rare conditions affecting lung, thyroid, and brain development, primarily caused by pathogenic variants or deletions in the NKX2-1 gene. Congenital hypothyroidism (CH) is a common endocrine manifestation, leading to irreversible intellectual disability if left untreated. OBJECTIVES: The aim was to evaluate the current evidence for the use of screening and diagnostic techniques for endocrine alterations in patients with NKX2-1-RD. METHODS: This systematic review was reported following the PRISMA guidelines. Two separate research questions in PICO format were addressed to cover initial screening and diagnosis procedures for endocrine diseases in patients with NKX2-1-RD. Eligibility criteria focused on patients with genetic confirmation of the disease and hypothyroidism. Various databases were searched, and data were extracted and assessed independently by two reviewers. RESULTS: Out of 1012 potentially relevant studies, 46 were included, for a total of 113 patients. CH was the most frequent endocrine alteration (45% of patients). Neonatal screening was reported in only 21% of patients based on blood TSH measurements. TSH thresholds varied widely across studies, making hypothyroidism detection ranges difficult to establish. Diagnostic tests using serum TSH were used to diagnose hypothyroidism or confirm its presence. 35% of patients were diagnosed at neonatal age, and 42% at adult age. Other hormonal dysfunctions identified due to clinical signs, such as anterior pituitary deficiencies, were detected later in life. Thyroid scintigraphy and ultrasonography allowed for the description of the thyroid gland in 30% of cases of hypothyroidism. Phenotypic variability was observed in individuals with the same variants, making genotype-phenotype correlations challenging. CONCLUSION: This review highlights the need for standardized protocols in endocrine screening for NKX2-1-RD, emphasizing the importance of consistent methodology and hormone threshold levels. Variability in NKX2-1 gene variants further complicates diagnostic efforts. Future research should concentrate on optimizing early screening protocols and diagnostic strategies.
Assuntos
Hipotireoidismo Congênito , Fator Nuclear 1 de Tireoide , Humanos , Recém-Nascido , Hipotireoidismo Congênito/genética , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/sangue , Triagem Neonatal/métodos , Testes de Função Tireóidea , Glândula Tireoide/metabolismo , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologia , Fator Nuclear 1 de Tireoide/genética , Fator Nuclear 1 de Tireoide/metabolismo , Tireotropina/sangueRESUMO
Beverages are an important part of the diet, but their environmental impact has been scarcely assessed. The aim of this study was to assess how changes in beverage consumption over a one-year period can impact the environmental sustainability of the diet. This is a one-year longitudinal study of 55-75-year-old participants with metabolic syndrome (n = 1122) within the frame of the PREDIMED-Plus study. Food and beverage intake were assessed using a validated food frequency questionnaire and a validated beverage-specific questionnaire. The Agribalyse® 3.0.1 database was used to calculate environmental impact parameters such as greenhouse gas emission, energy, water, and land use. A sustainability beverage score was created by considering the evaluated environmental markers. A higher beverage sustainability score was obtained when decreasing the consumption of bottled water, natural and packed fruit juice, milk, and drinkable dairy, soups and broths, sorbets and jellies, soft drinks, tea without sugar, beer (with and without alcohol), and wine, as well as when increasing the consumption of tap water and coffee with milk and without sugar. Beverage consumption should be considered when assessing the environmental impact of a diet. Trial registration: ISRCTN, ISRCTN89898870. Registered 5 September 2013.
Assuntos
Água Potável , Síndrome Metabólica , Adulto , Humanos , Pessoa de Meia-Idade , Idoso , Animais , Estudos Longitudinais , Ingestão de Energia , Bebidas , Leite , AçúcaresRESUMO
PURPOSE: Physical activity (PA) provides multiple health-related benefits in children and adolescents, however, at present, the majority of young people are insufficiently physically active. The aim of this study was to evaluate if neighborhood walkability and/or socio-economic status (SES) could affect the practice of walking, play outdoors and sports practice in a representative sample of Spanish children and adolescents. METHODS: A sample of 4092 youth (aged 8-16 years old) from 245 primary and secondary schools in 121 localities from each of the 17 Spanish autonomous communities participated in the study. Walk Score was used to evaluate walkability of the neighborhood and household income was used as an indicator of SES. A 7-item self-reported validated questionnaire, was used to assess PA levels, and in a subsample of 10% of the participants, randomly selected from the entire sample, PA was objectively measured by accelerometers. RESULTS: Youth from more walkable areas reported more minutes walking per day compared with those from less walkable neighborhoods (51.4 vs 48.8 minutes, respectively). The lowest average minutes spent in playing outdoors was found among participants from low-SES and low-walkable neighborhoods. Neighborhood SES influenced on the participation in team sports during the weekend, being this participation higher in high SES neighborhoods. CONCLUSION: Providing high walkable environments seems a good strategy to promote PA regardless SES levels. It seems that improving the walkability is a key component to partially overcome the SES inequalities, especially in urban areas with low SES. High-SES environments can offer better sports facilities and more organized physical activities than low-SES ones.
Assuntos
Desnutrição , Esportes , Criança , Humanos , Adolescente , Status Econômico , Planejamento Ambiental , Caminhada , Exercício Físico , Características de ResidênciaRESUMO
We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients with the I87T and V63G mutations probably lived 1600 (875-2950) and 500 (200-1275) years ago, respectively. The two alleles confer phenotypes that are similar but differ in terms of IFN-γR1 levels and residual response to IFN-γ. The patients suffered from bacillus Calmette-Guérin-osis (n= 6), environmental mycobacteriosis (n= 6) or tuberculosis (n= 1). One patient did not suffer from mycobacterial infections but had disseminated salmonellosis, which was also present in two other patients. Age at onset of the first environmental mycobacterial disease differed widely between patients, with a mean value of 11.25 ± 9.13 years. Thirteen patients survived until the age of 14.82 ± 11.2 years, and one patient died at the age of 7 years, 9 days after the diagnosis of long-term Mycobacterium avium infection and the initiation of antimycobacterial treatment. Up to 10 patients are currently free of infection with no prophylaxis. The clinical heterogeneity of the 14 patients was not clearly related to either IFNGR1 genotype or the resulting cellular phenotype. RP-IFN-γR1 deficiency is, thus, more common than initially thought and should be considered in both children and adults with mild or severe mycobacterial diseases.
Assuntos
Predisposição Genética para Doença , Infecções por Mycobacterium/genética , Receptores de Interferon/deficiência , Adolescente , Adulto , Sequência de Aminoácidos , Criança , Pré-Escolar , Feminino , Efeito Fundador , Genes Recessivos , Haplótipos , Humanos , Interferon gama/metabolismo , Masculino , Dados de Sequência Molecular , Monócitos/metabolismo , Mutação de Sentido Incorreto , Infecções por Mycobacterium/imunologia , Infecções por Mycobacterium/microbiologia , Mycobacterium avium , Mycobacterium bovis , Osteomielite/genética , Osteomielite/microbiologia , Linhagem , Fenótipo , Fosforilação , Pneumonia Bacteriana/genética , Transporte Proteico , Receptores de Interferon/genética , Receptores de Interferon/imunologia , Fator de Transcrição STAT1/metabolismo , Salmonella , Infecções por Salmonella/genética , Tuberculose/genética , Tuberculose/microbiologia , Tuberculose/mortalidade , Adulto Jovem , Receptor de Interferon gamaRESUMO
The role of mannose-binding lectin (MBL) deficiency (MBL2; XA/O and O/O genotypes) in host defences remains controversial. The surfactant proteins (SP)-A1, -A2 and -D, other collectins whose genes are located near MBL2, are part of the first-line lung defence against infection. We analysed the role of MBL on susceptibility to pneumococcal infection and the existence of linkage disequilibrium (LD) among the four genes. We studied 348 patients with pneumococcal community-acquired pneumonia (P-CAP) and 2,110 controls. A meta-analysis of MBL2 genotypes in susceptibility to P-CAP and to invasive pneumococcal disease (IPD) was also performed. The extent of LD of MBL2 with SFTPA1, SFTPA2 and SFTPD was analysed. MBL2 genotypes did not associate with either P-CAP or bacteraemic P-CAP in the case-control study. The MBL-deficient O/O genotype was significantly associated with higher risk of IPD in a meta-analysis, whereas the other MBL-deficient genotype (XA/O) showed a trend towards a protective role. We showed the existence of LD between MBL2 and SP genes. The data do not support a role of MBL deficiency on susceptibility to P-CAP or to IPD. LD among MBL2 and SP genes must be considered in studies on the role of MBL in infectious diseases.
Assuntos
Lectina de Ligação a Manose/genética , Pneumonia Pneumocócica/genética , Infecções Comunitárias Adquiridas/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
BACKGROUND AND AIM: Single nucleotide polymorphisms (SNPs) are substitutions of one base for another in the gene sequence and conforms the basis for pharmacogenetics and the development of personalized medicine. Many methods have been developed for SNP genotyping. The aim of the present study was to validate the use of a novel high-throughput genotyping system. METHODS: Five SNPs (rs25487, rs25489, rs1799782, rs13181, and rs11615) were genotyped in 118 cancer patients using the classical method PCR restriction fragment length polymorphism (RFLP) and the high-throughput, automated assay Biotrove OpenArray(®) NT Cycler, trying to explore the feasibility and reproducibility of the OpenArray system in the context of oncology. RESULTS: The call rates obtained ranged from 95.7 to 100% for both techniques. The percentage of overlapping ranged from 96.2 to 100% among both assays, showing a high reproducibility between the techniques. CONCLUSION: These findings, together with the low-cost and the simple and fast work flow, suggest that the OpenArray system is a robust and easy methodology for genotyping in the field of oncology.
Assuntos
Predisposição Genética para Doença/genética , Técnicas de Genotipagem/métodos , Neoplasias/genética , Polimorfismo de Nucleotídeo Único , Estudos de Viabilidade , Frequência do Gene , Genótipo , Humanos , Análise em Microsséries , Neoplasias/diagnóstico , Neoplasias/terapia , Avaliação de Resultados em Cuidados de Saúde/métodos , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Reprodutibilidade dos TestesRESUMO
Childhood obesity is a public health problem worldwide. An important determinant of child and adolescent obesity is socioeconomic status (SES). However, the magnitude of the impact of different SES indicators on pediatric obesity on the Spanish population scale is unclear. The aim of this study was to assess the association between three SES indicators and obesity in a nationwide, representative sample of Spanish children and adolescents. A total of 2791 boys and girls aged 8 to 16 years old were included. Their weight, height, and waist circumference were measured. SES was assessed using two parent/legal guardian self-reported indicators (educational level -University/non-University- and labor market status -Employed/Unemployed-). As a third SES indicator, the annual mean income per person was obtained from the census section where the participating schools were located (≥12.731/<12.731). The prevalence of obesity, severe obesity, and abdominal obesity was 11.5%, 1.4%, and 22.3%, respectively. Logistic regression models showed an inverse association of both education and labor market status with obesity, severe obesity, and abdominal obesity (all p < 0.001). Income was also inversely associated with obesity (p < 0.01) and abdominal obesity (p < 0.001). Finally, the highest composite SES category (University/Employed/≥12.731 n = 517) showed a robust and inverse association with obesity (OR = 0.28; 95% CI: 0.16-0.48), severe obesity (OR = 0.20; 95% CI: 0.05-0.81), and abdominal obesity (OR = 0.36; 95% CI: 0.23-0.54) in comparison with the lowest composite SES category (Less than University/Unemployed/<12.731; n = 164). No significant interaction between composite SES categories and age and gender was found. SES is strongly associated with pediatric obesity in Spain.
Assuntos
Obesidade Mórbida , Obesidade Infantil , Masculino , Feminino , Humanos , Criança , Adolescente , Obesidade Infantil/epidemiologia , Obesidade Abdominal/epidemiologia , Espanha/epidemiologia , Fatores Socioeconômicos , Classe Social , PrevalênciaRESUMO
BACKGROUND: Non-communicable chronic diseases are associated with a low-quality diet, low physical activity, and sedentary behavior. OBJECTIVE: To assess how parents' diet and physical activity habits were associated with their offsprings' lifestyles. STUDY DESIGN: A cross-sectional analysis of 8-16-year-old children and adolescents (n = 2539; 51.9% girls) was carried out within the frame of the first edition of the Physical Activity, Sedentarism, Lifestyles, and Obesity in Spanish Youth study (PASOS-2019). Data on adherence to the Mediterranean Diet (MedDiet), daily moderate-vigorous physical activity (MVPA), and screen time per day (television, computer, video games, and mobile phone) were collected from children and adolescents, and data on parents' diet quality and physical activity were compiled. Logistic regression models were used to assess the association between parents' lifestyles and those of children and adolescents. RESULTS: High diet quality of parents was associated with higher adherence to the MedDiet of children and adolescents, as well as high consumption of fruit, vegetables, fish, nuts, and legumes. The high physical activity level of parents was associated with the low consumption of fast foods, sweets, and candies in children and adolescents. Children with high levels of physical activity were those whose parents showed better diet quality and physical activity levels. CONCLUSIONS: Parents' high diet quality and physical activity were associated with healthy lifestyles, higher adherence to the MedDiet, and physical activity of their offspring, mainly in adolescents.
Assuntos
Dieta Mediterrânea , Verduras , Animais , Estudos Transversais , Frutas , Exercício FísicoRESUMO
Unhealthy dietary habits determined during childhood may represent a risk factor to many of the chronic non-communicable diseases (NCDs) in adulthood. Mediterranean Diet (MD) adherence in children and adolescents (8-16 years) living in Spain was investigated using the KIDMED questionnaire in a comparative analysis of two cross-sectional nationwide representative studies: enKid (1998-2000, n = 1001) and PASOS (2019-2020, n = 3540). Taking into account the educational level of pupils, as well as the characteristics of the place of living, a significant association was found between a KIDMED score ≥ 8 (optimal MD adherence) and primary education as well as residency in an area of <50,000 inhabitants, while living in the southern regions was associated with non-optimal MD adherence (p < 0.001). Participants of the 2019-2020 study showed an increase in the consumption of dairy products (31.1% increase), pasta/rice (15.4% increase), olive oil (16.9% increase), and nuts (9.7% increase), as well as a decreased sweets and candies intake (12.6% reduction). In contrast, a significantly lower MD adherence was found when comparing the 2019-2020 (mean ± SE: 6.9 ± 0.04) and the 1998-2000 study (7.37 ± 0.08); p < 0.001), due to less consumption of fish (20.3% reduction), pulse (19.4% reduction), and fruits (14.9% reduction), and an increased intake of commercial goods/pastries or fast-food intake (both 19.4% increase). The lowest adherence was recorded for adolescents also in the most recent study, where 10.9% of them presented a KIDMED score ≤ 3. This study shows that eating habits are deteriorating among Spanish children and adolescents. Such findings point out the urgency of undertaking strong measures to promote the consumption of healthy, sustainable, and non-ultra-processed food, such as those available in an MD, not only at a scientific and academic level, but also at a governmental one.
Assuntos
Dieta Mediterrânea , Estudos Transversais , Comportamento Alimentar , Inquéritos e Questionários , EscolaridadeRESUMO
BACKGROUND: Maintaining a healthy lifestyle is crucial for safeguarding the well-being and quality of life perception, appropriate growth, and development of children and adolescents, while also mitigating the risk of future adult-onset diseases. OBJECTIVE: To assess associations between perceived quality of life and healthy lifestyle and related outcomes in Spanish children and adolescents. METHODS: Cross-sectional analysis of 8-16-year-old children and adolescents (n = 3534) were included in the nationwide study of Physical Activity, Sedentarism, and Obesity in Spanish Youth (PASOS). Data were collected through (1) questionnaires on health-related quality of life (HRQoL), healthy lifestyle outcomes (dietary intake, physical fitness, sleep, and screen time), and (2) anthropometric measurements for weight status assessment. Data were analysed by logistic regression, using the health-related quality of life (HRQoL) as the grouping variable. RESULTS: Participants with a lower HRQoL were those with a lower adherence to the MedDiet and lower achievement of the recommended daily intake of fruit and vegetables. They were also less likely to follow the recommendations for screen time and sleep (with the exception of the weekend) compared to participants with a higher HRQoL. Participants with a lower HRQoL showed a lower healthy weight status and poorer physical fitness than those with a higher HRQoL. CONCLUSIONS: Healthy eating habits, healthy weight status (normal weight), appropriate sleep time, physical fitness, and limited screen time play a crucial role in the perceived quality of life in children and adolescents.
Assuntos
Obesidade , Qualidade de Vida , Criança , Humanos , Adolescente , Estudos Transversais , Exercício Físico , Estilo de Vida , Estilo de Vida SaudávelRESUMO
BACKGROUND AND AIMS: The World Health Organization recommended simultaneous measurement of body mass index (BMI) and waist circumference (WC) and suggested joint use to predict disease risks. The aim of this study was to assess the prevalence of BMI and waist-to-height ratio (WHtR) categories among Spanish children and adolescents, as well as their associations with several lifestyle factors. METHODS: Cross-sectional analysis of 8-16-year-old children and adolescents (n = 3772) were included in the PASOS nationwide representative study. Children/adolescents and their mothers/female caregivers answered a questionnaire on lifestyle and health factors. Child/adolescent anthropometrics were measured. Four combined BMI-WHtR disease risk categories were built. RESULTS: A third of participants showed combined BMI-WHtR categories with high disease risk (12.3% 'increased risk', 9.7% 'high risk', 14.3% 'very high risk'). Participants in the 'very high risk' group were less likely to be females (odds ratio 0.63; 95% CI: 0.52-0.76) and adolescents (0.60; 95% CI: 0.49-0.72), to practice ≥60 min/day of moderate-vigorous physical activity (MVPA) (0.73; 95% CI: 0.57-0.93), and to watch <120 min/day of total screen time on weekdays (0.61; 95% CI: 0.49-0.76). Mothers of participants in the 'very high risk' group were less likely to have a high educational level, be in the overweight or normal range, have never smoked or were former smokers, and watch <120 min/day of total screen time on weekends. Participants in the 'increased' and 'high risk' categories had mothers with normal weight and ≥60 min/day of MVPA. Participants in the 'high risk' group did not achieve ≥60 min/day of MVPA and showed lower adherence to the Mediterranean diet. CONCLUSIONS: Adherence to a healthy lifestyle in children and adolescents, but also in their mothers/female caregivers during offspring's childhood and adolescence, is associated with low BMI-WHtR disease risk.