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1.
Int J Mol Sci ; 24(22)2023 Nov 17.
Article in English | MEDLINE | ID: mdl-38003659

ABSTRACT

Polyamines (Pas) are short molecules that exhibit two or three amine groups that are positively charged at a physiological pH. These small molecules are present in high concentrations in a wide variety of organisms and tissues, suggesting that they play an important role in cellular physiology. Polyamines include spermine, spermidine, and putrescine, which play important roles in age-related diseases that have not been completely elucidated. Aging is a natural process, defined as the time-related deterioration of the physiological functions; it is considered a risk factor for degenerative diseases such as cardiovascular, neurodegenerative, and musculoskeletal diseases; arthritis; and even cancer. In this review, we provide a new perspective on the participation of Pas in the cellular and molecular processes related to age-related diseases, focusing our attention on important degenerative diseases such as Alzheimerߣs disease, Parkinsonߣs disease, osteoarthritis, sarcopenia, and osteoporosis. This new perspective leads us to propose that Pas function as novel biomarkers for age-related diseases, with the main purpose of achieving new molecular alternatives for healthier aging.


Subject(s)
Polyamines , Spermidine , Spermine/physiology , Putrescine
2.
Int J Mol Sci ; 23(19)2022 Oct 06.
Article in English | MEDLINE | ID: mdl-36233175

ABSTRACT

Dystrophin Dp71 is the most abundant product of the Duchenne muscular dystrophy gene in the nervous system, and mutations impairing its function have been associated with the neurodevelopmental symptoms present in a third of DMD patients. Dp71 is required for the clustering of neurotransmitter receptors and the neuronal differentiation of cultured cells; nonetheless, its precise role in neuronal cells remains to be poorly understood. In this study, we analyzed the effect of two pathogenic DMD gene point mutations on the Dp71 function in neurons. We engineered C272Y and E299del mutations to express GFP-tagged Dp71 protein variants in N1E-115 and SH-SY5Y neuronal cells. Unexpectedly, the ectopic expression of Dp71 mutants resulted in protein aggregation, which may be mechanistically caused by the effect of the mutations on Dp71 structure, as predicted by protein modeling and molecular dynamics simulations. Interestingly, Dp71 mutant variants acquired a dominant negative function that, in turn, dramatically impaired the distribution of different Dp71 protein partners, including ß-dystroglycan, nuclear lamins A/C and B1, the high-mobility group (HMG)-containing protein (BRAF35) and the BRAF35-family-member inhibitor of BRAF35 (iBRAF). Further analysis of Dp71 mutants provided evidence showing a role for Dp71 in modulating both heterochromatin marker H3K9me2 organization and the neuronal genes' expression, via its interaction with iBRAF and BRAF5.


Subject(s)
Dystrophin , Neuroblastoma , Dystroglycans/genetics , Dystrophin/genetics , Heterochromatin , High Mobility Group Proteins/genetics , High Mobility Group Proteins/metabolism , Humans , Lamins/genetics , Neurons/metabolism , Nuclear Lamina/metabolism , Point Mutation , Protein Aggregates , Receptors, Neurotransmitter/genetics
3.
Muscle Nerve ; 60(1): 90-95, 2019 07.
Article in English | MEDLINE | ID: mdl-30994189

ABSTRACT

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages. METHODS: Dysphagia was investigated in 11 presymptomatic DM1 carriers, 14 patients with DM1 and 12 age-matched healthy controls, by using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores. RESULTS: Scores for the FEES variables, delayed pharyngeal reflex, posterior pooling, and postswallow residue were significantly greater in patients with DM1 and in presymptomatic DM1 carriers than in healthy controls (P < 0.05); oropharyngeal dysfunction was more severe in patients than in presymptomatic carriers. Penetration/aspiration was found altered exclusively in patients with DM1 (P < 0.05). DISCUSSION: Swallowing dysfunction occurs in presymptomatic DM1 carriers. Timely diagnosis of dysphagia in preclinical stages of the disease will aid in the timely management of presymptomatic carriers, potentially preventing medical complications. Muscle Nerve, 2019.


Subject(s)
Asymptomatic Diseases , Deglutition Disorders/physiopathology , Myotonic Dystrophy/physiopathology , Adolescent , Adult , Aged , Case-Control Studies , Deglutition Disorders/etiology , Endoscopy, Digestive System , Female , Humans , Male , Middle Aged , Mutation , Myotonic Dystrophy/complications , Myotonic Dystrophy/genetics , Myotonin-Protein Kinase/genetics , Young Adult
4.
Ann Hum Genet ; 81(5): 197-204, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28597910

ABSTRACT

Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking an ATXN7-CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls. Subsequent validation of the findings was performed in 89 ATXN7-CAG mutation carriers and in 119 unrelated healthy controls of Mexican ancestry. The haplotype analyses showed a shared haplotype background and C allele of SNP rs6798742 (approximately 6 kb from the 3'-end of CAG repeats) is in complete association with expanded, premutation, intermediate, and the majority of large normal (≥12) CAG allele. The C allele (ancestral/chimp allele) association was validated in SCA7 subjects and healthy controls from Mexico, suggesting its substantial association with CAG expanded and expansion-prone chromosomes. Analysis of rs6798742 and other neighboring functional SNPs within 6 kb in experimental datasets (Encyclopedia of DNA Elements; ENCODE) shows functional marks that could affect transcription as well as histone methylation. An allelic association of the CAG region to an intronic SNP in two different ethnic and geographical populations suggests a -cis factor-dependent mechanism in ATXN7 CAG-region expansion.


Subject(s)
Ataxin-7/genetics , DNA Repeat Expansion , Polymorphism, Single Nucleotide , Spinocerebellar Ataxias/genetics , Genetic Association Studies , Haplotypes , Humans , India , Mexico
5.
Curr Opin Insect Sci ; 65: 101237, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39047975

ABSTRACT

The use of pheromones, while common, remains underexplored in mosquito research. Understanding Aedes aegypti's mating behaviour and pheromones is crucial for expanding knowledge and advancing vector control strategies. Unlike other species, Aedes mosquitoes have adaptable mating behaviour, complicating the study of their communication mechanisms. Current literature on Aedes communication is sparse, not due to lack of effort but because of its complexity. Ae. aegypti's mating behaviour is influenced by sensory cues and environmental factors. Swarming, which facilitates mating aggregation, is triggered by host odours, highlighting the role of semiochemicals alongside aggregation pheromones. Cuticular hydrocarbons may act as chemical signals in mating, though their roles are unclear. Acoustic signals significantly contribute to mate attraction and male fitness assessment, showcasing the multidimensional nature of Ae. aegypti sexual communication. Understanding these aspects can enhance targeted control strategies and reduce mosquito populations and disease transmission.


Subject(s)
Aedes , Pheromones , Sexual Behavior, Animal , Animals , Aedes/physiology , Sexual Behavior, Animal/physiology , Male , Animal Communication , Female , Mosquito Vectors/physiology
6.
Cells ; 13(19)2024 Sep 26.
Article in English | MEDLINE | ID: mdl-39404375

ABSTRACT

The constant increase in the elderly population presents significant challenges in addressing new social, economic, and health problems concerning this population. With respect to health, aging is a primary risk factor for age-related diseases, which are driven by interconnected molecular hallmarks that influence the development of these diseases. One of the main mechanisms that has attracted more attention to aging is autophagy, a catabolic process that removes and recycles damaged or dysfunctional cell components to preserve cell viability. The autophagy process can be induced or deregulated in response to a wide range of internal or external stimuli, such as starvation, oxidative stress, hypoxia, damaged organelles, infectious pathogens, and aging. Natural compounds that promote the stimulation of autophagy regulatory pathways, such as mTOR, FoxO1/3, AMPK, and Sirt1, lead to increased levels of essential proteins such as Beclin-1 and LC3, as well as a decrease in p62. These changes indicate the activation of autophagic flux, which is known to be decreased in cardiovascular diseases, neurodegeneration, and cataracts. The regulated administration of natural compounds offers an adjuvant therapeutic alternative in age-related diseases; however, more experimental evidence is needed to support and confirm these health benefits. Hence, this review aims to highlight the potential benefits of natural compounds in regulating autophagy pathways as an alternative approach to combating age-related diseases.


Subject(s)
Aging , Autophagy , Autophagy/drug effects , Humans , Aging/drug effects , Aging/metabolism , Animals , Biological Products/pharmacology , Biological Products/therapeutic use , Signal Transduction/drug effects
7.
Rev Esc Enferm USP ; 56: e20220229, 2022.
Article in English, Portuguese | MEDLINE | ID: mdl-36541418

ABSTRACT

OBJECTIVE: To validate clinically the risk factors of the nursing diagnosis "Risk for delayed child development". METHOD: Cross-sectional quantitative study carried out in a specialty outpatient clinic and in family health units with 124 children. The data was collected through interviews with the children's guardians to investigate the risk factors for delay in child development. RESULTS: The tested risk factors affected 108 of the evaluated children (87.1%). In the accuracy tests, most specificity values were above 80% and sensitivity values were lower than 30%. Most risk factors had odds ratio >1, three of which were noteworthy: genetic disorder (OR = 38, p < 0.05) and congenital disorder (OR = 4.4, p < 0.05), among child-related aspects, and impaired cognitive development in parents (OR = 27, p < 0.05), among caregiver-related aspects. CONCLUSION: The study contributed to a refined diagnostic accuracy, identifying potential associated factors of the evaluated diagnosis.


Subject(s)
Child Development , Nursing Diagnosis , Humans , Cross-Sectional Studies , Parents/psychology , Risk Factors
8.
Curr Biol ; 31(9): 1988-1994.e5, 2021 05 10.
Article in English | MEDLINE | ID: mdl-33667373

ABSTRACT

Catnip (Nepeta cataria) is a common garden herb well known for its euphoric and hallucinogenic effects on domestic cats,1-3 for its medicinal properties,4,5 as well as for its powerful repellent action on insects.6,7 Catnip extracts have been proposed as a natural alternative to synthetic insect repellents, such as N,N-diethyl-3-methylbenzamide (DEET),8,9 but how catnip triggers aversion in insects is not known. Here, we show that, both in Drosophila melanogaster flies and Aedes aegypti mosquitoes, the major mediator of catnip repellency is the widely conserved chemical irritant receptor TRPA1. In vitro, both catnip extract and its active ingredient nepetalactone can directly activate fly and mosquito TRPA1. In vivo, D. melanogaster and Ae. aegypti TRPA1 mutants are no longer repelled by catnip and nepetalactone. Interestingly, our data show that some, but not all, fly and mosquito TRPA1 variants are catnip targets. Moreover, unlike the broad TRPA1 agonist allyl isothiocyanate (AITC) (an active ingredient of tear gas and wasabi), catnip does not activate human TRPA1. Our results support the use of catnip and nepetalactone as insect-selective irritants and suggest that, despite TRPA1's broad conservation, insect TRPA1 can be targeted for the development of safe repellents.


Subject(s)
Aedes , Insect Repellents , Nepeta , Aedes/genetics , Animals , Cats , DEET/pharmacology , Drosophila melanogaster/genetics , Insect Repellents/pharmacology , Irritants
9.
Curr Biol ; 30(1): 127-134.e5, 2020 01 06.
Article in English | MEDLINE | ID: mdl-31839454

ABSTRACT

Geosmin is one of the most recognizable and common microbial smells on the planet. Some insects, like mosquitoes, require microbial-rich environments for their progeny, whereas for other insects such microbes may prove dangerous. In the vinegar fly Drosophila melanogaster, geosmin is decoded in a remarkably precise fashion and induces aversion, presumably signaling the presence of harmful microbes [1]. We have here investigated the effect of geosmin on the behavior of the yellow fever mosquito Aedes aegypti. In contrast to flies, geosmin is not aversive but mediates egg-laying site selection. Female mosquitoes likely associate geosmin with microbes, including cyanobacteria consumed by larvae [2], who also find geosmin-as well as geosmin-producing cyanobacteria-attractive. Using in vivo multiphoton calcium imaging from transgenic PUb-GCaMP6s mosquitoes, we show that Ae. aegypti code geosmin in a qualitatively similar fashion to flies, i.e., through a single olfactory channel with a high degree of sensitivity for this volatile. We further demonstrate that geosmin can be used as bait under field conditions, and finally, we show that geosmin, which is both expensive and difficult to obtain, can be substituted by beetroot peel extract, providing a cheap and viable potential mean for mosquito control and surveillance in developing countries.


Subject(s)
Aedes/drug effects , Chemotaxis , Naphthols/metabolism , Oviposition/drug effects , Aedes/growth & development , Aedes/physiology , Animals , Female , Larva/drug effects , Larva/growth & development , Larva/physiology
10.
Genes (Basel) ; 11(7)2020 07 07.
Article in English | MEDLINE | ID: mdl-32645888

ABSTRACT

The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the dystrophia myotonica-protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However, accurate determination of CTG expansion size is challenging due to its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three different primers sets-1, 2 and 3] and small pool [SP]-PCR) to estimate CTG expansion size in the progenitor allele as well as the most abundant CTG expansion size, in 15 patients with DM1. Our results indicated variability between the methods (although we found no overall differences between long PCR 1 and 2 and SP-PCR, respectively). While keeping in mind the limited sample size of our patient cohort, SP-PCR appeared as the most suitable technique, with an inverse significant correlation found between CTG expansion size of the progenitor allele, as determined by this method, and age of disease onset (r = -0.734, p = 0.016). Yet, in light of the variability of the results obtained with the different methods, we propose that an international agreement is needed to determine which is the most suitable method for assessing CTG expansion size in DM1.


Subject(s)
Genetic Testing/methods , Myotonic Dystrophy/genetics , Polymerase Chain Reaction/methods , Trinucleotide Repeat Expansion , 3' Untranslated Regions , Age of Onset , Genetic Testing/standards , Humans , Myotonic Dystrophy/diagnosis , Myotonin-Protein Kinase/genetics , Polymerase Chain Reaction/standards , Reference Standards
11.
Curr Biol ; 29(8): 1253-1262.e7, 2019 04 22.
Article in English | MEDLINE | ID: mdl-30930038

ABSTRACT

Mosquitoes use olfaction as a primary means of detecting their hosts. Previously, the functional ablation of a family of Aedes aegypti olfactory receptors, the odorant receptors (ORs), was not sufficient to reduce host seeking in the presence of carbon dioxide (CO2). This suggests the olfactory receptors that remain, such as the ionotropic receptors (IRs), could play a significant role in host detection. To test this, we disrupted the Ir8a co-receptor in Ae. aegypti using CRISPR/Cas9. We found that Ir8a mutant female mosquitoes are not attracted to lactic acid, a behaviorally active component of human sweat, and they lack odor-evoked responses to acidic volatiles. The loss of Ir8a reduces mosquito attraction to humans and their odor. We show that the CO2-detection pathway is necessary but not sufficient for IR8a to detect human odor. Our study reveals that the IR8a pathway is crucial for an anthropophilic vector mosquito to effectively seek hosts. VIDEO ABSTRACT.


Subject(s)
Aedes/physiology , Chemotaxis , Insect Proteins/genetics , Odorants , Receptors, Ionotropic Glutamate/genetics , Volatile Organic Compounds/metabolism , Animals , Female , Humans , Insect Proteins/metabolism , Male , Receptors, Ionotropic Glutamate/metabolism
12.
Rev. Esc. Enferm. USP ; Rev. Esc. Enferm. USP;56: e20220229, 2022. tab
Article in English, Portuguese | LILACS, BDENF - nursing (Brazil) | ID: biblio-1422744

ABSTRACT

ABSTRACT Objective: To validate clinically the risk factors of the nursing diagnosis "Risk for delayed child development". Method: Cross-sectional quantitative study carried out in a specialty outpatient clinic and in family health units with 124 children. The data was collected through interviews with the children's guardians to investigate the risk factors for delay in child development. Results: The tested risk factors affected 108 of the evaluated children (87.1%). In the accuracy tests, most specificity values were above 80% and sensitivity values were lower than 30%. Most risk factors had odds ratio >1, three of which were noteworthy: genetic disorder (OR = 38, p < 0.05) and congenital disorder (OR = 4.4, p < 0.05), among child-related aspects, and impaired cognitive development in parents (OR = 27, p < 0.05), among caregiver-related aspects. Conclusion: The study contributed to a refined diagnostic accuracy, identifying potential associated factors of the evaluated diagnosis.


RESUMEN Objetivo: Realizar la validación clínica de los factores de riesgo del diagnóstico de enfermería "Riesgo de retraso en el desarrollo infantil". Método: Estudio transversal, cuantitativo, realizado en un ambulatorio de especialidades y en unidades de salud de la familia, con 124 niños. Los datos se recogieron a través de entrevistas con los tutores de los niños y se investigaron los factores de riesgo para el retraso en el desarrollo infantil. Resultados: Los factores de riesgo sometidos a prueba estuvieron presentes en 108 de los niños evaluados (87,1%). En las pruebas de precisión, la mayoría de los valores de especificidad fueron superiores al 80% y los valores de sensibilidad fueron inferiores al 30%. La mayoría de los factores de riesgo tenían odds ratio >1, con énfasis en tres: el trastorno genético (OR = 38, p < 0,05) y el trastorno congénito (OR = 4,4, p < 0,05), entre los aspectos relacionados con el niño, y el desarrollo cognitivo deficiente de los padres (OR = 27, p < 0,05), entre los aspectos de los cuidadores. Conclusión: El estudio contribuyó para el refinamiento de la precisión diagnóstica, identificando factores potencialmente asociados con el diagnóstico evaluado.


RESUMO Objetivo: Realizar a validação clínica dos fatores de risco do diagnóstico de Enfermagem "Risco de atraso no desenvolvimento infantil". Método: Estudo transversal, de abordagem quantitativa, realizado em um ambulatório de especialidades e em unidades de saúde da família, com 124 crianças. A coleta de dados ocorreu por meio de entrevistas com os responsáveis pelas crianças e investigou os fatores de risco para atraso no desenvolvimento infantil. Resultados: Os fatores de risco sob teste estiveram presentes em 108 crianças avaliadas (87,1%). Nos testes de acurácia, a maioria dos valores de especificidade foi acima de 80%, e os de sensibilidade, inferiores a 30%. A maioria dos fatores de risco teve odds ratio >1, com destaque para três: distúrbio genético (OR = 38, p < 0,05) e distúrbio congênito (OR = 4,4, p < 0,05), entre os aspectos relativos à criança, e o desenvolvimento cognitivo dos pais prejudicado (OR = 27, p < 0,05), entre os aspectos dos cuidadores. Conclusão O estudo contribuiu para o refinamento da acurácia diagnóstica, identificando fatores potencialmente associados ao diagnóstico avaliado.


Subject(s)
Humans , Child , Pediatric Nursing , Nursing Diagnosis , Child Development , Terminology , Validation Study
13.
Rev. eletrônica enferm ; 21: 1-9, 2019.
Article in English, Portuguese | BDENF - nursing (Brazil), LILACS | ID: biblio-1119133

ABSTRACT

Objetivou-se levantar estudos de desenvolvimento de diagnósticos de enfermagem em pediatria e relacionar tais diagnósticos às necessidades essenciais das crianças. Estudo teórico, de revisão da literatura nas bases Cinahl, Embase, Bdenf, e no portal Pubmed, e análise comparativa das definições e componentes dos diagnósticos selecionados, com os conteúdos das necessidades essenciais das crianças. Foram identificados 10 diagnósticos, em 17 artigos de estudos de desenvolvimento de diagnósticos de enfermagem em pediatria. A maioria dos diagnósticos foi relativa a agravos respiratórios, além de dor e nutrição, os quais correspondem à necessidade essencial de proteção física e segurança. Os diagnósticos voltados ao desenvolvimento infantil tiveram correspondência ao maior número de necessidades essenciais das crianças. Concluiu-se que a necessidade de proteção física e segurança é a mais contemplada nos diagnósticos selecionados e os diagnósticos de desenvolvimento infantil tiveram maior abrangência de resposta a necessidades.


The objective of this research was to gather studies on the development of nursing diagnoses in pediatrics and to relate such diagnoses to the essential needs of children. A theoretical study was conducted based on a review of the literature found in the Cinahl, Embase and Bdenf databases and Pubmed webpage, along with a comparative analysis between the definitions and components of the selected diagnoses, and the contents of the essential needs of children. Ten diagnoses were identified in 17 articles on the development of pediatric nursing diagnoses. Most diagnoses were related to respiratory problems, in addition to pain and nutrition, which correspond to the essential need for safety and physical protection. The diagnoses focused on child development corresponded to the greatest number of essential needs of children. The conclusion is that safety and physical protection is the most frequently identified need in the selected diagnoses and the diagnoses of child development had a greater scope in responding to those needs.


Subject(s)
Humans , Pediatric Nursing , Nursing Diagnosis , Child Health Services
14.
Int J Clin Exp Med ; 7(12): 5896-903, 2014.
Article in English | MEDLINE | ID: mdl-25664129

ABSTRACT

Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. Although SCA7 is an uncommon autosomal dominant ataxia, we previously found increased prevalence of the disease in a Southeastern Mexican population. In this study, we described to our knowledge for the first time a marriage of consanguineous SCA7 mutation carriers and their offspring effect. We characterized a severely affected infantile-onset female patient whose parents and two siblings exhibited no symptoms of the disease at time of diagnosis. A comprehensive clinical analysis of the proband showed a progressive cerebellar syndrome, including gait ataxia, movement disorders, and saccadic movements, as well as hyperreflexia, visual deterioration, urinary and cardiovascular dysfunction, and impaired nerve conduction. The SCA7 mutation was detected in the proband patient. Subsequently, genetic examination using four ATXN7 gene-linked markers (three centromeric microsatellite markers [D3S1228, D3S1287, and D3S3635] and an intragenic Single Nucleotide Polymorphism [SNP-3145G/A]) revealed that the proband descends from a couple of consanguineous SCA7 mutation carriers. Genotyping analysis demonstrated that all offspring inherited only one mutant allele, and that the severe infantile-onset phenotype is caused by germinal expansion (from 37 to 72 CAG repeats) of the paternal mutant allele. Interestingly, the couple also referred a miscarriage. Finally, we found no CAA interruptions in the ATXN7 gene CAG repeats tract in this family, which might explain, at least in part, the triplet instability in the proband.

15.
São Paulo; s.n; 2018. 128 p
Thesis in Portuguese | LILACS, BDENF - nursing (Brazil) | ID: biblio-1395716

ABSTRACT

INTRODUÇÃO: O diagnóstico de enfermagem contribui para a implementação da sistematização da assistência na área, porém há poucos diagnósticos de enfermagem voltados à saúde da criança já validados. Pesquisas recentes abordaram o fenômeno desenvolvimento infantil (DI), propondo e realizando a validação de conteúdo de diagnósticos relativos a esse fenômeno para a taxonomia da NANDA-I. Este estudo teve como finalidade contribuir para a validação de um desses diagnósticos. OBJETIVO: realizar a validação clínica do diagnóstico de enfermagem Risco de atraso no desenvolvimento infantil proposto para a taxonomia NANDA-I. MÉTODO: Estudo metodológico, de abordagem quantitativa, com coleta de dados no ambulatório de especialidades do Hospital Infantil Darcy Vargas, São Paulo, SP, e em unidades de saúde da família do município de Catalão, GO, no período de junho a outubro de 2017. A amostra foi de 124 crianças de zero a três anos de idade, em situações clínicas estáveis e em atendimento nos serviços. O roteiro de coleta de dados foi aplicado em entrevistas aos responsáveis pelas crianças, investigando os fatores de risco para atraso no DI: doença crônica; doença aguda; distúrbios genéticos; distúrbios congênitos; distúrbios sensoriais; crescimento inadequado; prematuridade e/ou baixo peso ao nascer; uso de medicações na gestação; uso de tabaco na gestação; uso de álcool e drogas na gestação; exposição a poluentes ambientais; saúde mental materna alterada durante a gestação; doença materna; acompanhamento pré-natal; exposição à violência doméstica; desenvolvimento cognitivo dos pais prejudicado; institucionalização; estimulação inadequada da criança; condições sociais e condições econômicas inadequadas. A pesquisa foi conduzida conforme a Resolução 466/2012, mediante aprovação dos Comitês de Ética em Pesquisa das instituições de ensino envolvidas (nº2070709; n°1.939.608). As crianças foram classificadas conforme proposto no novo diagnóstico e conforme o instrumento de vigilância do desenvolvimento da criança, da caderneta de saúde, adotado como padrão-ouro. Realizaram-se testes de acurácia e de associação dos fatores de risco em relação às crianças que tiveram presença de todos os marcos do desenvolvimento para a idade e às que tiveram algum marco ausente. RESULTADOS: Os fatores de risco sob teste estiveram presentes em 108 (87,1%) crianças, sendo os mais frequentes: condições sociais e econômicas desfavoráveis (N=41 e N=34), doenças agudas e crônicas (N= 40), distúrbios congênitos (N=29), crescimento inadequado (N=28) e prematuridade ou baixo peso de nascimento (N=24). Nos testes de acurácia, a maioria dos valores de especificidade foi acima de 80%, e os de sensibilidade inferiores a 30%. A maioria dos fatores de risco teve odds ratio >1, destacando-se distúrbio genético (OR=38, p<0,001), distúrbio congênito (OR=4,4, p<0,05) e o desenvolvimento cognitivo dos pais prejudicado (OR=27, p<0,05). CONCLUSÃO: O desenho deste estudo forneceu uma direção para a eficiência diagnóstica dos fatores de risco para o diagnóstico proposto, contribuindo para o refinamento da acurácia diagnóstica, por meio da aplicação de testes. Assim, conclui-se que os distúrbios congênitos, os distúrbios genéticos e o desenvolvimento cognitivo dos pais prejudicados obtiveram maior associação com a ausência de marcos para o desenvolvimento.


INTRODUCTION: The existence of nursing diagnoses contributes to the implementation of the systematization of nursing care, however, there are few nursing diagnoses focused on the health of the child that has already been validated. Recent studies have approached the child development phenomenon (CD), proposing and performing the validation of the diagnoses related to this phenomenon for the NANDA-I taxonomy. This study aimed to contribute to the validation of one of these diagnoses. OBJECTIVE: Carrying out the clinical validation of the nursing diagnoses "Risk of delay in child development" proposed for the NANDA-I taxonomy. METHOD: Methodological study with a quantitative approach, the data was collected at the Hospital Infantil Darcy Vargas in São Paulo, SP, and also at the Health Strategy Unit in Catalão, GO, from June to October 2017.The sample was 124 children from zero to three years old, in stable clinical situations and in care in services. The instrument was applied during interviews with the caregiver for the children, investigating the risk of delay in CD: chronic disease; acute disease; genetic disorders; congenital disorders; sensory disorders; inadequate growth; prematurity and / or low birth weight; use of medications during pregnancy; use of tobacco during the pregnancy; use of alcohol and drugs during the pregnancy; exposure to environmental pollutants; maternal mental health altered during the pregnancy; maternal disease; prenatal care; exposure to domestic violence; cognitive development of impaired parents; institutionalization; inadequate stimulation of the child; social conditions and inadequate economic conditions. The research was conducted in accordance with the Resolution 466/2012, with the approval of the Research Ethics Committees of the institutions involved (nº2070709; no. 1,939,608). The children were classified according to the new diagnoses and also to the child development surveillance instrument, from the children health booklet, adopted as a gold standard. Tests of accuracy and association of risk factors have been made in relation to the children who had all developmental milestones present for age and who had some missing framework. RESULTS: The risk factors were present in 108 (87.1%) children, with the most frequent being: social conditions and economic conditions (N = 41 and N = 34), acute and chronic diseases (N = 40), congenital disorders (N = 29), inadequate growth (N = 28), and prematurity or low birth weight (N = 24). In the accuracy tests, most of the specificity values was above 80%, and sensitivity was less than 30%. The majority of the risk factors had an odds ratio of > 1, with a genetic disorder (OR = 38, p <0.05) and cognitive impairment of parents impaired (OR = 27, p <0.05). CONCLUSION: It was confirmed that the risk factors for the "Risk of Delayed CD" of the NANDA-I diagnoses increase the child's chance of having some developmental milestone delay. Although with low sensitivity, the screening tests for CD evaluation may not identify all children classified as risk or delay in CD, false positives, due to the studied phenomenon that considers expanded and continuous aspects of the child.


Subject(s)
Pediatric Nursing , Validation Study , Child Development , Nursing
16.
Nursing (Ed. bras., Impr.) ; 13(146): 343-347, jul. 2010. ilus
Article in Portuguese | LILACS, BDENF - nursing (Brazil) | ID: lil-561015

ABSTRACT

Este estudo focaliza a humanização da assistência de enfermagem pediátrica. Descreve a concepção de seis enfermeiras sobre esta temática, as estratégias e recursos institucionais utilizados. A coleta de dados teve início após a aprovação do projeto pelo Comitê de Ética e Pesquisa da faculdade de medicina de Marília. Os dados foram obtidos por meio de questionário estruturado e analisados pela Técnica de Análise de Conteúdo de Bardin. Os resultados foram organizados em três categorias temáticas: concepção de humanização na visão das enfermeiras, estratégias de humanização utilizadas por elas na assistência à criança com câncer e os recursos institucionais utilizados em seus cotidianos de trabalho. Identificou-se que o processo de humanização da enfermagem envolve principios da PNH e está relacionada à assistência biopsicossocial, trabalho em equipe e respeito à individualidade.


This essay focuses humanizing nursing care in pediatrics oncology. It describes the conceptions of six nurses on the theme, as well as the strategies and institutional resources used. The data collection started after approval of the project by the Research Ethics Committee of the Faculty of Medicine of Marília. Data were collected by means of a structured questionnaire. The results were organized through Bardin’s Content Analysis Technique. They indicate three categories of themes: concept of humanizing from the nurses’ point of view, humanizing strategies used by the nurses in the care of children with cancer and institutional resources used by nurses in their daily work. The conclusion was that nurses’ humanizing process involves PHN principles and is related to bio-psycho social care, team work and respect to individuals.


Este estudio enfoca la humanización de la asistencia de enfermería en la oncología pediátrica. Describe la concepción de seis enfermeras acerca de esta temática, las estrategias y recursos institucionales utilizados. La recogida de datos se inició después de la aprobación del proyecto por el Comité de Ética de Investigación de la Facultad de Medicina de Marília. Los datos fueron obtenidos por medio de un cuestionario estructurado, y analizados por la técnica de Análisis de Contenido de Bardin. Los resultados fueron organizados por tres caracteres temáticos: la concepción de la humanización en la visión de las enfermeras, estrategias de humanización utilizadas por ellas en la asistencia al niño con cáncer y recursos institucionales utilizados en sus cotidianos de trabajo. Ha sido identificado que el proceso de humanización de las enfermeras engloba los principios de PNH y se relaciona a la asistencia biopsicosocial, trabajo en equipo y respecto a la individualidad.


Subject(s)
Humans , Oncology Nursing , Humanization of Assistance , Nurse-Patient Relations , Surveys and Questionnaires
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