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1.
Bol. pediatr ; 61(257): 174-179, 2021. tab
Artigo em Espanhol | IBECS | ID: ibc-220330

RESUMO

Fundamentos y objetivo. El tiempo de pantalla es una actividad muy frecuente entre las rutinas de los más jóvenes. Por ello han sido varias las instituciones que han propuesto pautas sobre un tiempo de pantalla saludable en la población pediátrica, aunque existen controversias entre ellas. El objetivo de este trabajo es revisar y comparar las principales recomendaciones de cinco instituciones sanitarias sobre el uso y tiempo de pantalla para la población infantil y adolescente. Métodos. Se revisaron y compararon las guías sobre el tiempo y uso de pantallas propuestas por cinco instituciones sanitarias: Ministerio de Sanidad, Servicios Sociales e Igualdad, Organización Mundial de la Salud, la Academia Americana de Pediatría, la Sociedad Canadiense de Pediatría Resultados. Las guías se basaban en la duración frente a las pantallas. Existía unanimidad respecto a los más pequeños (0-5 años), sin embargo, estas pautas no fueron tan claras para los niños de edad escolar y adolescentes. Conclusiones. Las guías deberían incluir otros aspectos importantes sobre el uso de pantallas, como recomendaciones diferenciando entre dispositivo, sobre el uso de pantallas para fines educativos o tener en cuenta el tiempo de pantalla no sedentario. Además, las futuras actualizaciones de las guías deberían incluir recomendaciones para todos los agentes involucrados en la salud y el desarrollo de los niños y adolescentes (AU)


Background and objective. Screen time is a common activity among the routines of the youngest. Thus, some institutions have proposed guidelines on healthy screen time in the paediatric population, although there are controversies between them. The aim of this work is to revise and to compare the main recommendations of five health institutions about screen time and usage of screens in children and adolescent population (up to 19 years old). Methods. We revised and compared guidelines about screen time and usage of screens purposed for five health institutions: Ministerio de Sanidad, Servicios Sociales e Igualdad, World Health Organization, American Academy of Pediatrics, Canadian Pediatric Society, and Government of Australia Results. Guidelines were based on the duration in front of screens. Guidelines unanimously agreed on the limitation of time and use among the youngest children (0-5 years), however, these recommendations were not as clear cut for those school-aged children and adolescents. Conclusions. Guidelines should include other important aspects on usage of screens as recommendations differentiating between devices, about educational screen time or taking (AU)


Assuntos
Humanos , Criança , Adolescente , Guias como Assunto , Comportamento Infantil , Comportamento do Adolescente , Tempo de Tela
4.
Andrology ; 4(1): 95-110, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26588606

RESUMO

Testicular germ cell tumors (TGCTs) are the most common type of cancer in young men and their incidence has been steadily increasing for the past decades. TGCTs and their precursor carcinoma in situ (CIS) are thought to arise from the deficient differentiation of gonocytes, precursors of spermatogonial stem cells. However, the mechanisms relating failed gonocyte differentiation to CIS formation remain unknown. The goal of this study was to uncover genes regulated during gonocyte development that would show abnormal patterns of expression in testicular tumors, as prospective links between failed gonocyte development and TGCT. To identify common gene and protein signatures between gonocytes and seminomas, we first performed gene expression analyses of transitional rat gonocytes, spermatogonia, human normal testicular, and TGCT specimens. Gene expression arrays, pathway analysis, and quantitative real-time PCR analysis identified cell adhesion molecules as a functional gene category including genes downregulated during gonocyte differentiation and highly expressed in seminomas. In particular, the mRNA and protein expressions of claudins 6 and 7 were found to decrease during gonocyte transition to spermatogonia, and to be abnormally elevated in seminomas. The dynamic changes in these genes suggest that they may play important physiological roles during gonocyte development. Moreover, our findings support the idea that TGCTs arise from a disruption of gonocyte differentiation, and position claudins as interesting genes to further study in relation to testicular cancer.


Assuntos
Diferenciação Celular/fisiologia , Claudinas/biossíntese , Neoplasias Embrionárias de Células Germinativas/metabolismo , Seminoma/metabolismo , Espermatogônias/citologia , Células-Tronco/citologia , Neoplasias Testiculares/metabolismo , Animais , Moléculas de Adesão Celular/metabolismo , Perfilação da Expressão Gênica , Humanos , Masculino , Ratos , Ratos Sprague-Dawley , Reação em Cadeia da Polimerase em Tempo Real
5.
Georgian Med News ; (230): 65-72, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24940860

RESUMO

The aim of this study is to describe the childhood vasculitis hospital burden in Spain (1997-2011), considering type of disease, hospitalization rates and time trends. Data were obtained from the National Discharges Basic Minimum Data Set (National Patient Data Base). Inpatient events of children younger than 15 years of age were analyzed. Principal diagnosis of vasculitis were selected according Ninth Revision of the International Classification of Diseases: Takayasu arteritis, Polyarteritis nodosa, Kawasaki disease, Wegener`s granulomatosis, Churg-Strauss syndrome, and Henoch-Schönlein purpura. A total of 14518 children hospitalizations related to vasculitis were identified in Spain from 1997 to 2011. The average hospitalization rate for children was 13.33±1.71 per 100,000. Henoch-Schönlein purpura and Kawasaki disease were the most common type of vasculitis, hospitalization rates were 11.00 and 3.97 per 100,000 children, respectively. Other vasculitis hospitalizations are much rare in childhood. Average length of stay was 6.04 days and estimated cost per inpatient hospital care was 2,847€. Hospital case fatality rate was 0.05% for overall vasculitis. In conclusion, epidemiological data of childhood vasculitis are useful both to health decision-making and to identify research priorities.


Assuntos
Vasculite por IgA/epidemiologia , Síndrome de Linfonodos Mucocutâneos/epidemiologia , Vasculite/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Vasculite por IgA/patologia , Masculino , Síndrome de Linfonodos Mucocutâneos/patologia , Espanha , Vasculite/classificação , Vasculite/patologia
6.
Bone ; 51(4): 748-55, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22796417

RESUMO

We aimed to investigate the epidemiological determinants, clinical features, and genetic pattern of FOP in our country by evaluating the entire population of patients identified according to a combination of methods. To achieve this, 24 individuals were confirmed as FOP cases, 17 of whom were alive at the end of 2011 (point prevalence=0.36 × 10(-6)). The gender distribution (male/female ratio=13/11) and the concurrent range of ages (from 4 to 53 years; mean ± SD: 30.2 ± 13.8) are in agreement with similar reports. Twenty-one (87.5%) had characteristic congenital malformations of the big toe, and short thumbs were found in 65.2% of cases. In addition, other skeletal malformations such us fusion of the posterior elements of the cervical spine (89.0%), knee osteochondromas (71%), scoliosis (54.5%), and short and broad femoral neck (52.6%) were observed. All had developed mature ossicles of heterotopic bone in typical anatomic and temporal patterns, ranging in number from 1 to 17 (9.5 ± 3.9). Age at appearance of first ossifying lesion varied from 3 months to 15 years. Mean age at diagnosis was 7.3 ± 5.1 years and the average delay in reaching the correct diagnosis after the onset of heterotopic ossification was 2.7 years (range=0-12 years). Biopsy of the pre-osseous lesions was performed in 11 of 20 (55.0%), providing no useful information for the diagnosis of FOP. Seven of 18 (38.9%) reported some hearing loss, and 5 (27.8%) experienced diffuse thinning of the hair or were bald. No patient had relatives with a typical FOP clinical picture. Fourteen of the 16 cases which were genetically investigated displayed the single heterozygous mutation c.617G>A in exon 4 of the ACVR1 gene. One of the two patients who did not present with the canonical ACVR1 mutation showed a heterozygous mutation c.774G>C in exon 5 leading to the substitution of Arginine 258 with a serine. The other patient had a heterozygous c.774G>T substitution in exon 5 leading to the same amino acid change (p.Arg258Ser). These two patients had only nonspecific abnormalities of the great toe, lacked the typical anatomic and developmental pattern of heterotopic ossification, and shared a trend toward uncommon clinical features. These results provide new insight on the epidemiological and clinical traits of FOP, reinforcing the notion of its worldwide homogeneity. The molecular characterization of ACVR1 sequence variation will contribute to the understanding of the genetic profile of this devastating disease in different geographical areas.


Assuntos
Miosite Ossificante , Receptores de Ativinas Tipo I/genética , Adolescente , Adulto , Criança , Pré-Escolar , Éxons , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Miosite Ossificante/epidemiologia , Miosite Ossificante/genética , Miosite Ossificante/patologia , Espanha/epidemiologia , Adulto Jovem
7.
Anthropol Anz ; 69(4): 417-22, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23350154

RESUMO

The aim of this paper is to investigate heritable factors that might be related to the recognised genetic susceptibility for developing Paget's disease of bone (PD). This was a hospital-based, case-control study of a systematically selected group of PD patients and a group of controls drawn from the same health setting. In these populations we assessed surname pattern, parental consanguinity and constitutional physical traits. In a separate case-control analysis, genetically-based features and pathological traits of interest for genetic inference in 43 demonstrated familial cases were then compared to those in 24 sporadic cases. Results showed coincidence of three or four surnames (Odds Ratio [OR] = 5.6; 95% CI = 1.7-18.5), degree of parental consanguinity (OR = 4.1; 95% CI = 2.1-1.8), and green or blue eye colour (OR = 1.5; 95% CI = 1.1-2.1) were significantly associated with PD. Comparison of proven familial and sporadic PD cases showed that the former had a stronger association with Monckeberg-type vascular calcifications (32% vs. 4%; p = 0.02), percentage of skeleton affected (13.1 vs. 9.0), and green and blue eye colour (82% vs. 25%; p = 0.006), with Monckeberg-type vascular calcifications being the main variable of interest (OR = 30.9; 95% CI = 12.75-347.00) in the multivariate analysis. In conclusion, heritable factors are crucial in the pathogenesis of PD and, in line with other data sources, might account for the ethnic predisposition observed in different countries.


Assuntos
Osteíte Deformante/genética , Idoso , Estudos de Casos e Controles , Consanguinidade , Cor de Olho , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Nomes , Razão de Chances , Espanha
8.
Georgian Med News ; (193): 11-6, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21617266

RESUMO

Despite the low prevalence of Rare Diseases (RD), over 30 million EU citizens suffer from these conditions. This paper summarizes some aspects of these life-threatening chronic and debilitating diseases that usually require long term specialist care and costly formal and informal surveillance. Epidemiology does have an important role to play in the field of RD, since it provides appropriate methods and tools for assessing exposures and health outcomes. In this regard, the utility of registries, biobanks and population-based surveillance systems are discussed. The lack of effective diagnoses and treatments in RD patients often underlies their shortened life expectancy and quality of life. Due to the limited number of patients and the scarcity of relevant knowledge and expertise, coordination at European level is probably the best way of pooling the very limited resources available and provides a very high added-value. RD require the combined efforts of health and social care professionals, politicians, managers and researchers to increase the availability of effective disease management tools to improve care and to extend both life expectancy and Health Related Quality of Life.


Assuntos
Saúde Pública , Doenças Raras , Pesquisa Biomédica/organização & administração , Análise Custo-Benefício/estatística & dados numéricos , Europa (Continente)/epidemiologia , Humanos , Doenças Raras/diagnóstico , Doenças Raras/economia , Doenças Raras/epidemiologia , Doenças Raras/terapia , Sistema de Registros
9.
Pharmacoepidemiol Drug Saf ; 17(11): 1100-7, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18816486

RESUMO

PURPOSE: To estimate scleroderma prevalence in Spain. METHODS: As no data were available for Spain we used reported scleroderma incidence (Silman's study on UK and Alamanos' on Greece), scleroderma cause-specific mortality, obtained through the National Institute of Statistics (codes included in M34 of the International Classification of Diseases, 10th revision) in Spain and remission data. Estimates were applied to the Spanish population and to all-cause mortality for 2004, broken down by age group and gender. Estimators were assumed to follow a Poisson distribution. DisMod-II software was used for this purpose. RESULTS: Estimated prevalence was 0.23 and 0.71 cases per 10,000 people for men and women, respectively, based on UK incidence, and 0.28 and 2.58 cases per 10,000 people, respectively, based on Greek incidence. Estimated age at disease onset ranged from 50 to 58 years among men and from 52 to 55 among women, according to UK and Greek data, respectively. Mean duration of the disease was estimated to be in the range of 17-20 years for men and 19-20 for women. CONCLUSIONS: DisMod-II is useful for obtaining, modelling and confirming variability ranges of prevalence found in literature. It also provides information for orphan drug designation and for supporting public health decisions regarding rare diseases.


Assuntos
Modelos Teóricos , Escleroderma Sistêmico/epidemiologia , Adulto , Distribuição por Idade , Idoso , Feminino , Grécia/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Distribuição de Poisson , Prevalência , Escleroderma Sistêmico/mortalidade , Espanha/epidemiologia , Reino Unido/epidemiologia
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