Objective: To identify prevalence and correlate diagnosis, results, and nursing interventions in patients with acute renal injury (ARI) who were hospitalized in an intensive care unit (ICU). Methods: This was a cross-sectional study including 98 patients older than 18 years old with ARI who were undergoing hemodialysis treatment in the ICU . The study was carried out in an ICU a large public hospital located in the city of São Paulo, Brazil. For statistics analysis we used the SPSS v21.0 to estimate prevalence, the 95% of confidence interval and sample error of 0.05. Data were collected from March to July 2016 using structured interviews, anamnesis and physical exam of patients using an instrument designed by this study researchers. The main instrument was completed by the principal researcher. Nursing consultation lasted for approximately 30 minutes. Of the total sample, 10% was selected and checked randomly in order to evaluate data quality and atypical values. Two patients previously did a pilot test to verify whether information in the instrument achieved the objective of the study. Results: The 98 participatns were aged ≥60 years (33%), men (60%), and classified as pre-renal injury (54%). Prevalent diagnosis was (100%) risk of infection, risk of inefficient gastrointestinal perfusion, risk of ineffective renal perfusion, risk of electrolyte imbalance, excessive fluid volume, and risk of imbalanced fluid volume. Results (100%) were: severity of infection, access for hemodialysis, tissue perfusionabdominal organs, hydric balance, mobility, removal of toxins and renal function. Prevalent nursing interventions (100%) were: promotion against infection, control of infection, maintenance of access for dialysis, hydroeletrolitic control, urinary elimination control, acid-base control, electrolytic control, hypervolemia control, hydric control, hydric monitoring, respiratory physiotherapy, respiratory and positioning monitoring. Correlations were significant (p< 0.001) between diagnosis and nursing interventions and between nursing interventions and results. Conclusion: Main diagnosis, results and nursing interventions related with loss of renal function originated from changes of renal perfusion, volemia, hydroelectrolytic dysfunctions, and risk of infection. The number of diagnosis showed to be correlated with number of nursing interventions and nursing interventions was correlated with results. ResumoObjetivo: Identificar prevalência de diagnósticos (DE), resultados (RE) e intervenções de enfermagem (IE) em pacientes com lesão renal aguda (LRA) internados em unidade de terapia intensiva (UTI). Correlacionar DE, RE e IE identificados. Métodos: Estudo transversal, conduzido em Unidades de Terapia Intensiva de um hospital público de grande porte da cidade de São Paulo. Foram incluídos, numa amostra intencional, 98 pacientes com LRA em tratamento hemodialítico internados em UTI, maiores de 18 anos. Foi utilizado software SPSS v21.0 para estimação da prevalência, fixando a estimativa no intervalo de confiança ...
BackgroundTo alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD).ObjectiveTo describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS.MethodsThe study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed.ResultsCHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients.ConclusionSuspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.
Introdução: A lesão renal aguda é definida pelo aumento da creatinina em 0,3 mg/dl ou aumento de 1,5 do valor basal de creatinina ou ainda, diminuição do volume urinário em 0,5 ml/Kg/h em seis horas. O enfermeiro com conhecimento específico sobre a prevenção da lesão renal aguda tem competência para reconhecê-la e habilidades para efetuar as ações de prevenção. A detecção precoce reduz a morbidade e mortalidade destes
Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. Objetivo A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. Métodos Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. Resultados A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. Conclusão Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.
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