scholarly journals Triagem neonatal para fenilcetonúria e hiperfenilalaninemia permanente: a base de dados do IJC de 2010 a 2015 / Neonatal screening for phenylketonuria and permanent hyperphenylalaninemia: the database of IJC from 2010 to 2015

Author(s):  
Alline Coiado ◽  
Marina Sampaio ◽  
Thais Tellini ◽  
Sônia Marchezi Hadachi ◽  
Lene Garcia Barbosa

  Objetivo: A fenilcetonúria é uma das principais causas de deficiência intelectual, e possui tratamento eficaz, se realizado o diagnóstico e tratamento de forma precoce e um acompanhamento por toda vida. O objetivo deste trabalho é levantar a prevalência de recém-nascidos portadores de fenilcetonúria identificados pela triagem neonatal. Métodos: Estudo transversal no qual foi feito um levantamento de dados sobre triagem neonatal para doença fenilcetonúria realizada num Serviço de Referência de Triagem Neonatal, no período de 1 de janeiro de 2010 a 31 de dezembro de 2015. Resultados: Foi encontrado no período de 5 anos, uma prevalência aproximada de fenilcetonúria de 1: 14.700 e de hiperfenilalaninemia permanente é de 1: 54.500 nascidos vivos. Por meio dos resultados obtidos é possível demonstrar a relevância das recoletas e do seguimento no primeiro ano de vida e de amostras alteradas, assim como a gravidade da população feminina portadora de fenilcetonúria e hiperfenilalaninemia benigna, enfatizando o aumento de possíveis danos cerebrais na fase gestacional. Conclusão: A prevalência de fenilcetonúria e  hiperfenilalaninemia permanente é alta. As recoletas e o seguimento no primeiro ano de vida das amostras alteradas é de extrema importância, principalmente para a população feminina portadora de fenilcetonúria e hiperfenilalaninemia permanente, enfatizando o aumento de possíveis danos cerebrais na fase gestacional. Palavras chave: Fenilcetonúrias, Fenilalanina, Triagem neonatal ABSTRACT: Abstract Phenylketonuria is one of the main causes of intellectual disability, and it has effective treatment, if the diagnosis and treatment is performed early and a lifelong follow-up. The objective of this study is to determine the prevalence of newborns with phenylketonuria identified by newborn screening.  Methods: A cross-sectional study was carried out in which a data collection on newborn screening for phenylketonuria disease was carried out at the Newborn Screening Reference Service from January 1, 2010 to December 31, 2015.  Results: It was found in a 5-year period, an approximate prevalence of phenylketonuria of 1: 14,700 and permanent hyperphenylalaninemia is 1: 54,500 newborns. By means of the obtained results, it is possible to demonstrate the relevance of the recollects and the follow-up in the first year of life and of altered samples, as well as the severity of the female population with phenylketonuria and permanent hyperphenylalaninemia, emphasizing the increase of possible brain damages in the gestational phase. Conclusion: The prevalence of phenylketonuria and permanent hyperphenylalaninemia is high. Recollect and follow-up in the first year of life of the altered samples is extremely important, especially for the female population with phenylketonuria and permanent hyperphenylalaninemia, emphasizing the increase of possible brain damage in the gestational phase.  Keywords: Phenylketonurias. Phenylalanine, Newborn screening    

2018 ◽  
Vol 35 (2) ◽  
pp. 125-131
Author(s):  
Alessandro Leite Cavalcanti ◽  
Thaisy Sarmento Batista de Oliveira ◽  
Thaisy Sarmento Batista de Oliveira ◽  
Kívia Gabriella Gomes Muniz ◽  
Christiane Leite Cavalcanti ◽  
...  

Abstract Drowning is one of the accidents with the greatest impact on health. The objective of this paper was to analyze drowning deaths involving children up to four years of age in Campina Grande, Brazil. A cross-sectional study was developed using secondary data, carried out at the Forensic Medicine Unit. All autopsy reports of children 0-4 years of age, victims of drowning in the period from 2008 to 2011 were evaluated. Data referring to the year of occurrence, victims’ gender and age, time of day, day of week and place of occurrence were collected. Data analysis involved descriptive statistics (frequency distribution). Ninety-three cases of fatal drowning were identified, of which 20 (21.5%) involved children under four years of age. Most victims were male (80%), aged one year (35%). The accidents occurred predominantly during the day (85%), mostly at home (75%). The drowning victims were mostly boys in the first year of life and most cases of drowning occurred at their homes.


2019 ◽  
Vol 29 (4) ◽  
pp. 411-418
Author(s):  
N. V. Shakhova ◽  
E. M. Kamaltynova ◽  
Yu. F. Lobanov ◽  
T. S. Kashinskaya

The objective of the study was to investigate prevalence, clinical and allergological features, and risk factors of bronchial asthma in pre-school children living in urban areas of Altay Krai. Methods. This was a cross-sectional study involving 3,205 children (age, 3 to 6 years) attending pre-school facilities in 5 cities of the Altay Krai. Asthma symptoms were defined using the ISAAC questionnaire. Asthma was diagnosed by clinicians according to GINA. Results. Prevalence of asthma in urban children aged 3 to 6 years was 5.7%; 62.7% of them were previously diagnosed with asthma. Majority of children (59.4%) had mild asthma. Sensitization was detected in 70.3% of children with asthma, most of them were sensitized to dust mites Dermatophagoides pteronyssinus (63.3%), birch pollen (46.6%), and cat epithelium (31.1%). Risk factors of asthma were family history of allergy [odds ratio (OR) 3.2; 95% confidence interval (CI) 2.2–4.6], male gender (OR 2.2, 95% CI 1.5–2.3), preterm birth (OR 2.1, 95% CI 1.3–3.3), smoking parents (OR 1.6, 95% CI 1.2–2.9), (contact with pets during the first year of life (OR 1.4, 95% CI 1.0–2.0). Conclusion. The prevalence of asthma in urban children aged 3 to 6 years living in urban areas of Altay Krai was 5.7%. Most common sensitizers were house dust mites, birch pollen and cat epithelium. The risk factors of pre-school asthma are family history of allergy, male gender, preterm birth, passive smoking and contact with pets during the first year of life. 


2021 ◽  
pp. 140349482098313
Author(s):  
Bjørn E. Holstein ◽  
Sofie Weber Pant ◽  
Janni Ammitzbøll ◽  
Trine Pagh Pedersen

Background: Some studies suggest that favourable socioeconomic circumstances are associated with better parent–child relations but the documentation of such an association is limited and inconsistent. Few studies focused on infancy, few studies relied on objective measurement of parent–infant relations, and few studies included more than one measurement of parent–infant relations in the first year of life. Aims: To report the prevalence of objectively measured problems in parent–infant relations during the first year of life and to examine the association between socioeconomic circumstances and parent–infant relations in an unselected community sample of infants. Methods: Cross-sectional study of a community sample of children from birth to 10 months in 15 municipalities in Denmark, n = 11,765. The exposure variables were population register data about socioeconomic circumstances: (a) parents’ education, (b) family composition, (c) parents’ origin, and (d) parents’ occupational status. The outcome variable was the health visitor’s concerns about the parent–infant relation assessed at four home visits from birth to 10 months after delivery. Results: The proportion of children with concerns about the parent–infant relation was 10.5%, 7.8% at one home visit and 2.8% at two or more home visits. Logistic regression analyses showed that all four indicators of socioeconomic circumstances were associated with concerns about the parent–infant relation in the first year of life. Conclusions: The risk of problematic parent–infant relations were significantly elevated among, children of immigrant parents, and children of parents with shorter education and not in education or work.


2021 ◽  
Vol 49 (1) ◽  
Author(s):  
Desalew Tilahun ◽  
Abebe Abera ◽  
Gugsa Nemera

Abstract Background Health literacy plays a prominent role in empowering individuals for prevention as well as management of non-communicable diseases (NCDs). However, there is paucity of information on the health literacy of patients with non-communicable diseases in Ethiopia. Therefore, this study aimed to assess communicative health literacy and associated factors in patients with NCDs on follow-up at Jimma Medical Center (JMC), Ethiopia. Methods A cross-sectional study was conducted from 4 May 2020 to 4 July 2020 with 408 randomly selected adult patients, attending outpatient department of JMC in Ethiopia. The final sample size was obtained by using single population proportion formula. All patients with NCDs who were on follow-up at chronic illness clinic, JMC, were used as a source population. All eligible patients with NCDs who fulfilled the inclusion criteria were included in this study. A simple random sampling technique was used to recruit study participants. Data were collected through structured interviewer administered questionnaires on the six of nine health literacy domains using Health Literacy Questionnaire (HLQ) containing 30 items, socio-demographic and socio-economic characteristics, disease-related factors, and health information sources. Multivariable logistic regression was executed to determine the associations. Result Descriptive analysis shows more than half of the respondents in four of the six health literacy domains had high communicative health literacy level (CHLL). The proportion of people with high CHLL across each of the domains was as follows: health care provider support (56.1%), social support for health (53.7%), active engagement with a healthcare provider (56.1%), and navigating healthcare system (53.4%). We found educational status was significantly associated with five of six health literacy domains whereas number of sources was associated with four of six health literacy domains. Conclusion The overall findings of the current study indicate that health literacy levels vary according to socio-demographic and disease characteristics of patients. Thus, healthcare professionals should assess patients’ health literacy level and tailor information and support to the health literacy skills and personal context of their patients.


2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S120-S120
Author(s):  
G O Yeabyo

Abstract Introduction/Objective Cancer is one of a great public health problem in developing countries like Ethiopia and scarcity of histopathology laboratory is another burden for diagnosis and follow up of cancer diseases. The main purpose of this study is to evaluate the accessibility of histopathology services in Ethiopia. Methods Cross sectional study design were used to analyze the status of histopathology services in Ethiopia. Results There are 13 histopathology laboratories in the nation and a survey was conducted at these institutions. Out of these 13 Histopathology services seven are located in the capital, Addis Ababa and six found out of the capital located in four different regions. About 40,239,100 habitants have no histopathology service around their catchment area. Conclusion There are very limited histopathology laboratories, as a result diagnosis and prevention of cancer diseases are inadequate throughout the country.


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