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OBJECTIVE: To investigate the association between allergic diseases and the tendency to self-harm in adolescents, considering the role of sedentary behavior. METHODS: This was a population-based cross-sectional study, carried out in 2022, with 727 adolescents aged 12 to 19 years, from a capital in the Northeast of Brazil. The authors evaluated the association between each allergic disease (asthma, rhinitis and eczema) and self-harm, sedentary behavior and other variables. The authors performed an adjusted analysis of the associations between each allergy disease and the tendency to self-harm and then adjusted to the presence of family members and sedentary behavior. RESULTS: The prevalence of asthma, rhinitis and eczema were 18.76%, 36.21% and 12.86%, respectively. Sedentary behavior and tendency to self-harm were more frequently reported in asthmatics (PR 2.16; 95% CI: 1.55 - 3.00 and PR 1.98; 95% CI: 1.47 - 2.68, for sedentary behavior and self-harm respectively), rhinitis (PR 1.53; 95% CI: 1.25 - 1.88 and PR 1.33; 95% CI: 1.09 - 1.62, respectively) and eczema (PR 2.35; 95% CI: 1.54 - 3.58 and PR 1.55; 95% CI: 1.05 - 2.28, respectively). There was a reduction in the strength of this association in the three conditions, which included a loss of association. CONCLUSION: High rates of sedentary behavior and self-harm in those with asthma, rhinitis and eczema. Physical activity attenuated the risk for self-harm. It warns about the urgency in detecting these factors, whether in the diagnosis or in the implementation of therapy, seeking to reduce their harmful consequences in the short and long term.
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INTRODUCTION: The use of cardiovascular magnetic resonance (CMR) for diagnosis and management of a broad range of cardiac and vascular conditions has quickly expanded worldwide. It is essential to understand how CMR is utilized in different regions around the world and the potential practice differences between high-volume and low-volume centers. METHODS: CMR practitioners and developers from around the world were electronically surveyed by the Society for Cardiovascular Magnetic Resonance (SCMR) twice, requesting data from 2017. Both surveys were carefully merged, and the data were curated professionally by a data expert using cross-references in key questions and the specific media access control IP address. According to the United Nations classification, responses were analyzed by region and country and interpreted in the context of practice volumes and demography. RESULTS: From 70 countries and regions, 1092 individual responses were included. CMR was performed more often in academic (695/1014, 69%) and hospital settings (522/606, 86%), with adult cardiologists being the primary referring providers (680/818, 83%). Evaluation of cardiomyopathy was the top indication in high-volume and low-volume centers (p = 0.06). High-volume centers were significantly more likely to list evaluation of ischemic heart disease (e.g., stress CMR) as a primary indicator compared to low-volume centers (p < 0.001), while viability assessment was more commonly listed as a primary referral reason in low-volume centers (p = 0.001). Both developed and developing countries noted cost and competing technologies as top barriers to CMR growth. Access to scanners was listed as the most common barrier in developed countries (30% of responders), while lack of training (22% of responders) was the most common barrier in developing countries. CONCLUSION: This is the most extensive global assessment of CMR practice to date and provides insights from different regions worldwide. We identified CMR as heavily hospital-based, with referral volumes driven primarily by adult cardiology. Indications for CMR utilization varied by center volume. Efforts to improve the adoption and utilization of CMR should include growth beyond the traditional academic, hospital-based location and an emphasis on cardiomyopathy and viability assessment in community centers.
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Cardiología , Cardiomiopatías , Adulto , Humanos , Valor Predictivo de las Pruebas , Imagen por Resonancia Magnética , Cardiología/educación , Espectroscopía de Resonancia MagnéticaRESUMEN
BACKGROUND: Little is known about synergistic effects of several risk factors on asthma. We developed a risk score in Puerto Rican children, and then used this score to estimate the combined effects of multiple risk factors on asthma at school age in Puerto Rican and Swedish children. METHODS: Case-control study in 609 Puerto Rican children (aged 6-14 years) and longitudinal birth cohort study of 2290 Swedish children followed up to age 12 years (The Children, Allergy, Milieu, Stockholm, Epidemiological Survey [BAMSE] Study). In both cohorts, there was data on parental asthma, sex, obesity, allergic rhinitis, and early-life second-hand smoke (SHS); data on diet and (in children ≥9 years) lifetime exposure to gun violence were also available in the Puerto Rico study. Asthma was defined as physician-diagnosed asthma and ≥1 episode of wheeze in the previous year. RESULTS: In a multivariable analysis in Puerto Rican children, male sex, parental asthma, allergic rhinitis, early-life SHS, an unhealthy diet and (in children ≥9 years) gun violence were each significantly associated with asthma. We next created a risk score using these variables (range, 0 to 5-6 in Puerto Rico and 0 to 4 in BAMSE). Compared with Puerto Rican children without any risk factors (i.e. a score of 0), Puerto Rican children with 2, 3, and at least 4 risk factors had 3.6 times (95% CI = 1.4-9.2), 10.4 times (95% CI = 4.0-27.0), and 21.6 times (95% CI = 7.2-64.9) significantly higher odds of asthma, respectively. In BAMSE, the presence of 2, 3, and at least 4 risk factors was significantly associated with 4.1 times (95% CI = 2.3-7.4), 6.3 times (95% CI = 3.0-13.3), and 17.2 times (95% CI = 4.1-73.2) increased odds of asthma at age 12 years. CONCLUSIONS: Our findings emphasize the multifactorial etiology of asthma, and suggest that concurrent eradication or reduction of several modifiable risk factors may better prevent or reduce the burden of childhood asthma.
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Asma/etiología , Obesidad/prevención & control , Rinitis Alérgica/prevención & control , Instituciones Académicas/estadística & datos numéricos , Contaminación por Humo de Tabaco/prevención & control , Adolescente , Asma/epidemiología , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Obesidad/complicaciones , Obesidad/epidemiología , Padres , Puerto Rico/epidemiología , Rinitis Alérgica/complicaciones , Rinitis Alérgica/epidemiología , Factores de Riesgo , Suecia/epidemiología , Contaminación por Humo de Tabaco/efectos adversos , Violencia/etnología , Violencia/prevención & controlRESUMEN
In this study, a composite with magnetic properties has been successfully synthesized by a novel and environmentally friendly route and is applied to Cd(II) adsorption for water decontamination. The quantification of the phases obtained by Rietveld refinement has shown the presence of 84% of Mn3O4 and 16% of Fe3O4. Transmission electron microscopy image shows an aggregate of Mn3O4 nanoparticles without specific orientation and the predominance of octahedral morphology with nanoparticles size estimated around 25-30 nm. The Cd(II) adsorption isotherm is fitted using the Langmuir-Freundlich model. The estimated maximum adsorption capacities of Cd(II) at pH 6 and 7 are similar (0.28 ± 0.02 and 0.31 ± 0.02 mg/m2, respectively). The kinetic results show that the studied system follows the pseudo-second-order model. The Raman results indicate that Cd is being specifically adsorbed by the Mn3O4 in the composite. The hysteresis curve of the composite Mn3O4/Fe3O4 has changed when compared to the pure magnetite; however, the coercive field after the addition of manganese oxide remains unaltered and does not change with a value around 158 Oe. The turbidity tests showed that the magnetic sedimentation was efficient and promising for wastewater treatment in large scale. These materials can be conveniently recovered by magnetic separation, avoiding the filtration steps, which will make easier the solid-liquid separation operation that follows the adsorption process.
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Cadmio/aislamiento & purificación , Compuestos de Manganeso/química , Nanocompuestos/química , Óxidos/química , Contaminantes Químicos del Agua/aislamiento & purificación , Adsorción , Descontaminación , Cinética , Imanes , Microscopía Electrónica de Transmisión , Nanopartículas , Aguas ResidualesAsunto(s)
Accesibilidad a los Servicios de Salud/normas , Hospitales Públicos/normas , Servicio de Farmacia en Hospital/normas , Mejoramiento de la Calidad/normas , Estudios Transversales , Estudios de Seguimiento , Accesibilidad a los Servicios de Salud/economía , Honduras , Hospitales Públicos/economía , Humanos , Servicio de Farmacia en Hospital/economía , Mejoramiento de la Calidad/economíaRESUMEN
The aim of the study was (1) to translate the "Pediatric Quality of Life Inventory-Multidimensional Fatigue Scale" (PedsQL-Fatigue) into Brazilian Portuguese language and culture and evaluate its reliability and (2) to measure fatigue among patients with juvenile idiopathic arthritis (JIA): (1) Translation of the PedsQL-Fatigue by two bilingual researchers; (2) Backtranslation into English assessed by the authors of the original version; (3) Pilot study with five patients followed in the Pediatric Rheumatology Outpatient Clinic and their parents; and (4) Field study and assessment of measurement properties (internal consistency, reproducibility, and construct validity). In this stage, the scale was administered to 67 patients with JIA and 63 healthy individuals, aged from 2 to 18 years old, matched by age (from 2 to 4, 5 to 7, 8 to 12, and from 13 to 18 years old). Cronbach's alpha coefficient ranged from 0.6 to 0.8 for children and parents, indicating the instrument's good internal consistency. The scale's construct validity was confirmed by a satisfactory Spearman's coefficient between the PedsQL-Fatigue and the generic PedsQL 4.0 (0.840 for the children and 0.742 for the parents). Reproducibility was also adequate (0.764 for the children and 0.938 for the parents). No differences were found between the scores obtained by the JIA group and control group, though lower scores were observed among patients with clinically active JIA when compared to those without clinical activity. The PedsQL-Fatigue is a valid and reliable tool, and that can be used to measure fatigue among patients with JIA.
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Artritis Juvenil/complicaciones , Fatiga/diagnóstico , Calidad de Vida , Actividades Cotidianas , Adolescente , Brasil , Niño , Preescolar , Fatiga/complicaciones , Femenino , Estado de Salud , Humanos , Masculino , Proyectos Piloto , Psicometría , Reproducibilidad de los Resultados , Perfil de Impacto de Enfermedad , Encuestas y Cuestionarios , TraduccionesRESUMEN
Cryptic deletions in balanced de novo translocations represent a frequent cause of abnormal phenotypes, including Mendelian diseases. In this study, we describe a patient with multiple congenital abnormalities, such as late-onset congenital adrenal hyperplasia (CAH), primary ovarian failure and Ehlers-Danlos syndrome (EDS), who carries a de novo t(6;14)(p21;q32) translocation. Genomic array analysis identified a cryptic 1.1-Mb heterozygous deletion, adjacent to the breakpoint on chromosome 6, extending from 6p21.33 to 6p21.32 and affecting 85 genes, including CYP21A2,TNXB and MSH5. Multiplex ligation-dependent probe amplification analysis of the 6p21.3 region was performed in the patient and her family and revealed a 30-kb deletion in the patient's normal chromosome 6, inherited from her mother, resulting in homozygous loss of genes CYP21A1P and C4B. CYP21A2 sequencing showed that its promoter region was not affected by the 30-kb deletion, suggesting that the deletion of other regulatory sequences in the normal chromosome 6 caused a loss of function of the CYP21A2 gene. EDS and primary ovarian failure phenotypes could be explained by the loss of genes TNXB and MSH5, a finding that may contribute to the characterization of disease-causing genes. The detection of this de novo microdeletion drastically reduced the estimated recurrence risk for CAH in the family.
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Hiperplasia Suprarrenal Congénita/genética , Deleción Cromosómica , Cromosomas Humanos Par 6 , Síndrome de Ehlers-Danlos/genética , Insuficiencia Ovárica Primaria/genética , Niño , Síndrome de Ehlers-Danlos/complicaciones , Femenino , Humanos , Esteroide 21-Hidroxilasa/genéticaRESUMEN
BACKGROUND: Adenosine triphosphate (ATP) is secreted from hepatocytes under physiological conditions and plays an important role in liver biology through the activation of P2 receptors. Conversely, higher extracellular ATP concentrations, as observed during necrosis, trigger inflammatory responses that contribute to the progression of liver injury. Impaired calcium (Ca2+) homeostasis is a hallmark of acetaminophen (APAP)-induced hepatotoxicity, and since ATP induces mobilization of the intracellular Ca2+ stocks, we evaluated if the release of ATP during APAP-induced necrosis could directly contribute to hepatocyte death. RESULTS: APAP overdose resulted in liver necrosis, massive neutrophil infiltration and large non-perfused areas, as well as remote lung inflammation. In the liver, these effects were significantly abrogated after ATP metabolism by apyrase or P2X receptors blockage, but none of the treatments prevented remote lung inflammation, suggesting a confined local contribution of purinergic signaling into liver environment. In vitro, APAP administration to primary mouse hepatocytes and also HepG2 cells caused cell death in a dose-dependent manner. Interestingly, exposure of HepG2 cells to APAP elicited significant release of ATP to the supernatant in levels that were high enough to promote direct cytotoxicity to healthy primary hepatocytes or HepG2 cells. In agreement to our in vivo results, apyrase treatment or blockage of P2 receptors reduced APAP cytotoxicity. Likewise, ATP exposure caused significant higher intracellular Ca2+ signal in APAP-treated primary hepatocytes, which was reproduced in HepG2 cells. Quantitative real time PCR showed that APAP-challenged HepG2 cells expressed higher levels of several purinergic receptors, which may explain the hypersensitivity to extracellular ATP. This phenotype was confirmed in humans analyzing liver biopsies from patients diagnosed with acute hepatic failure. CONCLUSION: We suggest that under pathological conditions, ATP may act not only an immune system activator, but also as a paracrine direct cytotoxic DAMP through the dysregulation of Ca2+ homeostasis.
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The liver plays a vital role in the organism, and thousands of patients suffer and even die from hepatic complications every year. Viral hepatitis is one of the most important causes of liver-related pathological processes. However, sterile liver diseases, such as drug-induced liver injury, cirrhosis and fibrosis, are still a worldwide concern and contribute significantly to liver transplantation statistics. During hepatocyte death, several genuine intracellular contents are released to the interstitium, where they will trigger inflammatory responses that may boost organ injury. Intracellular purines are key molecules to several metabolic pathways and regulate cell bioenergetics. However, seminal studies in early 70s revealed that purines may also participate in cell-to-cell communication, and more recent data have unequivocally demonstrated that the purinergic signalling plays a key role in the recognition of cell functionality by neighbouring cells and also by the immune system. This new body of knowledge has pointed out that several promising therapeutic opportunities may rely on the modulation of purine release and sensing during diseases. Here, we review the most recent data on the physiological roles of purinergic signalling and how its imbalance may contribute to injury progression during sterile liver injury.
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Enfermedad Hepática Inducida por Sustancias y Drogas/metabolismo , Metabolismo Energético/fisiología , Cirrosis Hepática/metabolismo , Redes y Vías Metabólicas/fisiología , Purinas/metabolismo , Comunicación Celular/fisiología , Humanos , Estructura Molecular , Purinas/químicaRESUMEN
Heat shock proteins (Hsps) participate in the cellular response to stress and they are hiperexpressed in inflammatory conditions. They are also known to play a major role in immune modulation, controlling, for instance, autoimmune responses. In this study, we showed that oral administration of a recombinant Lactococcus lactis strain that produces and releases LPS-free Hsp65 prevented the development of experimental autoimmune encephalomyelitis (EAE) in C57BL/6 mice. This was confirmed by the reduced inflammatory cell infiltrate and absence of injury signs in the spinal cord. The effect was associated with reduced IL-17 and increased IL-10 production in mesenteric lymph node and spleen cell cultures. Hsp65-producing-L. lactis-fed mice had a remarkable increase in the number of natural and inducible CD4+Foxp3+ regulatory T (Treg) cells and CD4+LAP+ (Latency-associated peptide) Tregs - which express the membrane-bound TGF-ß - in spleen, inguinal and mesenteric lymph nodes as well as in spinal cord. Moreover, many Tregs co-expressed Foxp3 and LAP. In vivo depletion of LAP+ cells abrogated the effect of Hsp65-producing L. lactis in EAE prevention and worsened disease in medium-fed mice. Thus, Hsp65-L.lactis seems to boost this critical regulatory circuit involved in controlling EAE development in mice.
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Proteínas Bacterianas/metabolismo , Chaperonina 60/metabolismo , Encefalomielitis Autoinmune Experimental , Lactococcus lactis/metabolismo , Mycobacterium leprae/genética , Linfocitos T Reguladores/metabolismo , Animales , Autoinmunidad , Proteínas Bacterianas/biosíntesis , Proteínas Bacterianas/genética , Antígenos CD4/metabolismo , Chaperonina 60/biosíntesis , Chaperonina 60/genética , Encefalomielitis Autoinmune Experimental/inmunología , Encefalomielitis Autoinmune Experimental/microbiología , Encefalomielitis Autoinmune Experimental/prevención & control , Femenino , Factores de Transcripción Forkhead/metabolismo , Lactococcus lactis/genética , Ganglios Linfáticos/inmunología , Ganglios Linfáticos/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Médula Espinal/inmunología , Médula Espinal/metabolismo , Bazo/inmunología , Bazo/metabolismo , Linfocitos T Reguladores/inmunología , Factor de Crecimiento Transformador beta/biosíntesisRESUMEN
Raman and IR spectra were recorded of the As-loaded Mn(3)O(4) magnetic composites obtained from the adsorption studies performed with As(III). XANES results for the composite after As(III) removal tests show that the As adsorbed is at the oxidized arsenic form, As(V). Monodentate and bidentate surface complexes are suggested for arsenic adsorption onto the composite (5-16 mg/g). Precipitation of manganese arsenate is observed for high As loading (35 mg/g).
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Arsénico/química , Fenómenos Magnéticos , Compuestos de Manganeso/química , Óxidos/química , Espectrometría Raman , Adsorción , Concentración de Iones de Hidrógeno , Espectrofotometría Infrarroja , Temperatura , Espectroscopía de Absorción de Rayos XRESUMEN
INTRODUCTION: Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported in the literature. There are only two previous reports of cases where patients with ring chromosome 15 have been followed-up. CASE PRESENTATION: We report here on the 20-year clinical and cytogenetic follow-up of a patient with a ring chromosome 15. Our patient, a Caucasoid Asian woman, presented with short stature, microcephaly, minor dysmorphic features, hyperextensible knees, generalized hirsutism, café-au-lait and small hypochromic spots spread over her face and the front of her chest and abdomen, dorsolumbar scoliosis and mild intellectual disability. She was followed-up from the age of eight to 28 years. When she was 27 years old, she was reported by her mother to present with compulsive overeating and an aggressive mood when challenged. Karyotyping revealed that the majority of her cells harbored one normal chromosome and one ring chromosome. Silver staining revealed the presence of the nucleolar organizer region in the ring chromosome. Ring loss and/or secondary aberrations exhibited a slight increase over time, from 4.67% in 1989 to 7.67% in 2009, with the presence of two monocentric rings, cells with interlocked rings, a dicentric ring, and broken or open rings. A genome-wide array technique detected a 5.5Mb deletion in 15q26.2. CONCLUSIONS: We observed that some phenotypic alterations in our patient can be associated with gene loss and haploinsufficiency. Other features may be related to different factors, including ring instability and epigenetic factors.
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Transferencia de Embrión/normas , Prueba de Histocompatibilidad/métodos , Diagnóstico Preimplantación/métodos , Hermanos , Talasemia beta/genética , Adulto , Brasil , Preescolar , Trasplante de Células Madre de Sangre del Cordón Umbilical/métodos , Femenino , Antígenos HLA/análisis , Humanos , Recién Nacido , Masculino , Embarazo , Inyecciones de Esperma Intracitoplasmáticas , Talasemia beta/diagnósticoRESUMEN
UNLABELLED: Acetaminophen (APAP) is a safe analgesic and antipyretic drug. However, APAP overdose leads to massive hepatocyte death. Cell death during APAP toxicity occurs by oncotic necrosis, in which the release of intracellular contents can elicit a reactive inflammatory response. We have previously demonstrated that an intravascular gradient of chemokines and mitochondria-derived formyl peptides collaborate to guide neutrophils to sites of liver necrosis by CXC chemokine receptor 2 (CXCR2) and formyl peptide receptor 1 (FPR1), respectively. Here, we investigated the role of CXCR2 chemokines and mitochondrial products during APAP-induced liver injury and in liver neutrophil influx and hepatotoxicity. During APAP overdose, neutrophils accumulated into the liver, and blockage of neutrophil infiltration by anti-granulocyte receptor 1 depletion or combined CXCR2-FPR1 antagonism significantly prevented hepatotoxicity. In agreement with our in vivo data, isolated human neutrophils were cytotoxic to HepG2 cells when cocultured, and the mechanism of neutrophil killing was dependent on direct contact with HepG2 cells and the CXCR2-FPR1-signaling pathway. Also, in mice and humans, serum levels of both mitochondrial DNA (mitDNA) and CXCR2 chemokines were higher during acute liver injury, suggesting that necrosis products may reach remote organs through the circulation, leading to a systemic inflammatory response. Accordingly, APAP-treated mice exhibited marked systemic inflammation and lung injury, which was prevented by CXCR2-FPR1 blockage and Toll-like receptor 9 (TLR9) absence (TLR9(-/-) mice). CONCLUSION: Chemokines and mitochondrial products (e.g., formyl peptides and mitDNA) collaborate in neutrophil-mediated injury and systemic inflammation during acute liver failure. Hepatocyte death is amplified by liver neutrophil infiltration, and the release of necrotic products into the circulation may trigger a systemic inflammatory response and remote lung injury.
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Reacción de Fase Aguda/metabolismo , Quimiocinas/metabolismo , ADN Mitocondrial/sangre , Fallo Hepático Agudo/inmunología , Hígado/patología , Neutrófilos/inmunología , Receptores de Formil Péptido/metabolismo , Acetaminofén , Lesión Pulmonar Aguda/sangre , Lesión Pulmonar Aguda/inmunología , Reacción de Fase Aguda/inmunología , Adolescente , Adulto , Análisis de Varianza , Animales , Movimiento Celular , Quimiocinas/sangre , Quimiocinas/inmunología , Niño , Técnicas de Cocultivo , Femenino , Células Hep G2 , Humanos , Interleucina-8/sangre , Hígado/metabolismo , Fallo Hepático Agudo/inducido químicamente , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Persona de Mediana Edad , Proteínas Mitocondriales/inmunología , Proteínas Mitocondriales/metabolismo , Necrosis/inmunología , Receptores de Formil Péptido/inmunología , Receptores de Interleucina-8B/sangre , Receptores de Interleucina-8B/inmunología , Receptores de Interleucina-8B/metabolismo , Transducción de Señal , Síndrome de Respuesta Inflamatoria Sistémica/sangre , Síndrome de Respuesta Inflamatoria Sistémica/inmunología , Receptor Toll-Like 9/genética , Receptor Toll-Like 9/inmunología , Adulto JovenRESUMEN
BACKGROUND: The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature. RESULTS: We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15. DISCUSSION: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.
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Verificar se adolescentes de ambos os sexos referem o medo como uma emoção presente e quais são as causas mais comuns de medo. MÉTODOS: Estudo descritivo, prospectivo, de corte transversal, com determinação da amostra por conveniência, que envolveu a análise de questionários aplicados aos adolescentes atendidos entre 2004 e 2006 em um ambulatório de Medicina do Adolescente. Os adolescentes responderam na sala de espera o Youth Self Report (YSR) - instrumento de triagem para problemas de comportamento. Foram analisadas as respostas ao item 29 - "tenho medo de animais, situações ou lugares, sem incluir a escola. Quais?" O teste do qui-quadrado foi utilizado para verificar a associação entre as faixas etárias (10-12, 13-15 e 16-19 anos) e sexo com o item 29 do YSR. RESULTADOS: Avaliaram-se 323 protocolos, 184 (57 por cento) eram do sexo feminino. A emoção medo foi predominante no sexo feminino (p=0,009). Houve uma associação significante entre as respostas ao item 29 e a faixa etária, em que os mais velhos assinalaram mais a opção "frequentemente presente" do que os mais novos (p=0,048). Os motivos de medo foram diversos, mas os animais predominaram. CONCLUSÕES: A emoção medo esteve mais associada ao sexo feminino e a faixa etária dos adolescentes mais velhos. A educação, a cultura e a preservação da espécie podem estar influenciando a presença de medo nas mulheres. Diferentemente da literatura, os mais velhos relataram mais terem medo, talvez devido à maior consciência desta emoção ou pelas expectativas da faixa etária.
To determine whether male and female adolescents report currently experiencing fear and to identify their most common causes of fear. METHODS: This was a descriptive, prospective, cross-sectional study of a convenience sample, involving analysis of questionnaires administered to adolescents seen at a public university adolescent clinic between 2004 and 2006. The adolescents self-administered the Youth Self Report (YSR - a screening tool for behavioral problems) while in the waiting room. The responses to item 29, "I am afraid of certain animals, situations or places other than school. (Describe)" were analyzed. The chi-square test was used to determine whether age group (10-12, 13-15 or 16-19 years) and gender were associated with responses to item 29 of the YSR. RESULTS: 323 adolescents' questionnaires were analyzed, 184 (57 percent) of whom were female. Fear was more common among the females (p=0.009). There was a significant association between the responses to item 29 and age group. Older adolescents were more likely to check the option "often true" than younger adolescents (p=0.048). There were a variety of different causes of fear, but animals predominated. CONCLUSIONS: Among these adolescents, fear tended to be associated with the female gender and older age groups. Education, culture and preservation of the species may affect the degree of fear in females. In contrast with reports in the literature, in this study older students reported more fear, perhaps due to greater awareness of the emotion or due to the expectations of the age group analyzed.
Verificar si adolescentes de ambos sexos refieren el miedo como una emoción presente y cuáles son las causas más comunes de miedo. MÉTODOS: Estudio descriptivo, prospectivo, de corte transversal, con determinación de la muestra por conveniencia, que implicó el análisis de cuestionarios aplicados a los adolescentes atendidos entre 2004 y 2006, en un ambulatorio de Medicina del Adolescente. Los adolescentes contestaron en la sala de espera el Youth Self Report (YSR) - instrumento de selección para problemas de comportamiento. Se analizaron las respuestas en el ítem 29 - ®tengo miedo a animales, situaciones o lugares, no incluyendo la escuela. ¿Cuáles?¼ Se utilizó el test de chi-cuadrado para verificar la asociación entre las franjas de edad (10-12 años, 13-15 años y 16-19 años) y sexo con el ítem 29 del YSR. RESULTADOS: Se evaluaron 323 protocolos, 184 (57,0 por ciento) eran del sexo femenino. La emoción miedo fue predominante en el sexo femenino (p=0,009). Hubo una asociación significante entre las respuestas al ítem 29 y la franja de edad, en la que los mayores señalaron más la opción ®frecuentemente presente¼ que los menores (p=0,048). Los motivos de miedo fueron diversos, pero los animales predominaron. CONCLUSIONES: La emoción miedo estuvo más asociada al sexo femenino y a la franja de edad de los individuos mayores. La educación, la cultura y la preservación de la especie pueden estar influenciando la presencia del miedo en las mujeres. Diferentemente de la literatura, los mayores relataron más tener miedo, quizá debido a la mayor consciencia de esta emoción o por las expectativas de la franja de edad.
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Humanos , Masculino , Femenino , Adolescente , Conducta del Adolescente , Miedo/psicología , Salud del AdolescenteRESUMEN
BACKGROUND: The breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients. METHODS: Several techniques were performed such as genome-wide array, MLPA (Multiplex Ligation-Dependent Probe Amplification) and FISH (Fluorescent in situ Hybridization). RESULTS: The ring chromosomes of patients I to XIV were determined to be, respectively: r(3)(p26.1q29), r(4)(p16.3q35.2), r(10)(p15.3q26.2), r(10)(p15.3q26.13), r(13)(p13q31.1), r(13)(p13q34), r(14)(p13q32.33), r(15)(p13q26.2), r(18)(p11.32q22.2), r(18)(p11.32q21.33), r(18)(p11.21q23), r(22)(p13q13.33), r(22)(p13q13.2), and r(22)(p13q13.2). These rings were found to have been formed by different mechanisms, such as: breaks in both chromosome arms followed by end-to-end reunion (patients IV, VIII, IX, XI, XIII and XIV); a break in one chromosome arm followed by fusion with the subtelomeric region of the other (patients I and II); a break in one chromosome arm followed by fusion with the opposite telomeric region (patients III and X); fusion of two subtelomeric regions (patient VII); and telomere-telomere fusion (patient XII). Thus, the r(14) and one r(22) can be considered complete rings, since there was no loss of relevant genetic material. Two patients (V and VI) with r(13) showed duplication along with terminal deletion of 13q, one of them proved to be inverted, a mechanism known as inv-dup-del. Ring instability was detected by ring loss and secondary aberrations in all but three patients, who presented stable ring chromosomes (II, XIII and XIV). CONCLUSIONS: We concluded that the clinical phenotype of patients with ring chromosomes may be related with different factors, including gene haploinsufficiency, gene duplications and ring instability. Epigenetic factors due to the circular architecture of ring chromosomes must also be considered, since even complete ring chromosomes can result in phenotypic alterations, as observed in our patients with complete r(14) and r(22).
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Inestabilidad Cromosómica , Cromosomas Humanos/genética , Cromosomas en Anillo , Adolescente , Adulto , Niño , Preescolar , Cromosomas Humanos/química , Cromosomas Humanos/ultraestructura , Femenino , Duplicación de Gen , Genotipo , Haploinsuficiencia , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Análisis de Secuencia por Matrices de Oligonucleótidos , Fenotipo , Telómero/genética , Adulto JovenRESUMEN
A bottom-up label-free mass spectrometric proteomic strategy was used to analyse the protein profiles of the human embryonic secretome. Culture media samples used for embryonic culture of patients undergoing intracytoplasmic sperm injection cycles were selected as a test case for this exploratory proof-of-principle study. The media were stored after embryo transfer and then pooled into positive (n = 8) and negative (n = 8) implantation groups. The absolute quantitative bottom-up technique employed a multidimensional protein identification technology based on separation by nano-ultra-high pressure chromatography and identification via tandem nano-electrospray ionization mass spectrometry with data-independent scanning in a hydrid QqTOF mass spectrometer. By applying quantitative bottom-up proteomics, unique proteins were found exclusively in both the positive- and negative-implantation groups, which suggest that competent embryos express and secrete unique biomarker proteins into the surrounding culture medium. The selective monitoring of these possible secretome biomarkers could make viable procedures using single-embryo transfer.
Asunto(s)
Blastocisto , Proteínas/metabolismo , Proteómica , Blastocisto/metabolismo , Femenino , Humanos , Espectrometría de MasasRESUMEN
Estima-se que dois bilhões de indivíduos sejam anêmicos e que a deficiência de ferro ocorra em cerca de quatro bilhões de indivíduos, afetando a população de países desenvolvidos e, com mais intensidade, a dos países em desenvolvimento. No Brasil, estudos apontam elevada prevalência de anemia ferropriva em crianças dependendo da região e da faixa etária. A velocidade de crescimento aumentada, determinando maior necessidade de ferro, aliada a dieta inadequada em ferro e ao desmame precoce, contribuem para a elevada prevalência de anemia, principalmente nos dois primeiros anos de vida. Outros fatores de risco são apontados, como a prematuridade, o baixo peso ao nascer, a ligadura precoce do cordão umbilical e o abandono do aleitamento materno exclusivo. O impacto da deficiência de ferro no crescimento permanece controverso, uma vez que inúmeras outras variáveis poderiam contribuir para melhora ou piora do estado nutricional. Alterações no desenvolvimento psicomotor e neurocognitivo, nos lactentes deficientes com ferro, têm sido relatadas em diversos estudos, sendo controversa a recuperação após o tratamento. Há trabalhos que demonstram queda no rendimento intelectual e nas aquisições cognitivas também no período escolar e adolescência, com reversão após a terapia marcial. Entre as medidas preventivas, a educação nutricional é a forma ideal; entretanto, frente à elevada prevalência, outras formas de prevenção devem ser também utilizadas, como a suplementação com ferro e a fortificação de alimentos com ferro.
Iron deficiency anemia afflicts an estimated two billion people and iron deficiency approximately 4 billion people in developed countries and is even more common in developing countries. In Brazil, depending on the region and age, studies point to high prevalences of iron-deficiency anemia in children. The high growth speed, which requires a greater amount of iron, connected with an inadequate iron diet and early weaning contribute to the high prevalence, mainly within the first 2 years of life. Other risk factors, such as prematurity, low birth weight, early umbilical cord clamping and weaning from exclusive breastfeeding may contribute. The impact of iron deficiency on growth is controversial as several other variables contribute to improve or worsen the nutritional status. Alterations in the psychomotor and neural-cognitive development of infants with iron deficiency have been reported in various studies with the catch-up growth rate after treatment being controversial. Additionally, some studies have demonstrated a decrease in the intellectual development and cognitive acquisition in school age children and adolescents that is reverted after iron therapy. The best preventive measure is nutritional education, however due to the high prevalence of iron deficiency anemia, other measures should also be used as iron supplementation and food fortification with iron.