Using interoperable nursing care data to improve outcomes for multiple traumas patients with Impaired Physical Mobility.

AIM(S): To demonstrate how interoperable nursing care data can be used by nurses to create a more holistic understanding of the healthcare needs of multiple traumas patients with Impaired Physical Mobility. By proposing and validating linkages for the nursing diagnosis of Impaired Physical Mobility in multiple trauma patients by mapping to the Nursing Outcomes Classification (NOC) and Nursing Interventions Classification (NIC) equivalent terms using free-text nursing documentation. DESIGN: A descriptive cross-sectional design, combining quantitative analysis of interoperable data sets and the Kappa's coefficient score with qualitative insights from cross-mapping methodology and nursing professionals' consensus. METHODS: Cross-mapping methodology was conducted in a Brazilian Level 1 Trauma Center using de-identified records of adult patients with a confirmed medical diagnosis of multiple traumas and Impaired Physical Mobility (a nursing diagnosis). The hospital nursing free-text records were mapped to NANDA-I, NIC, NOC and NNN linkages were identified. The data records were retrieved for admissions from September to October 2020 and involved medical and nursing records. Three expert nurses evaluated the cross-mapping and linkage results using a 4-point Likert-type scale and Kappa's coefficient. RESULTS: The de-identified records of 44 patients were evaluated and then were mapped to three NOCs related to nurses care planning: (0001) Endurance; (0204) Immobility Consequences: Physiological, and (0208) Mobility and 13 interventions and 32 interrelated activities: (6486) Environmental Management: Safety; (0840) Positioning; (3200) Aspiration Precautions; (1400) Pain Management; (0940) Traction/Immobilization Care; (3540) Pressure Ulcer Prevention; (3584) Skincare: Topical Treatment; (1100) Nutrition Management; (3660) Wound Care; (1804) Self-Care Assistance: Toileting; (1801) Self-Care Assistance: Bathing/Hygiene; (4130) Fluid Monitoring; and (4200) Intravenous Therapy. The final version of the constructed NNN Linkages identified 37 NOCs and 41 NICs. CONCLUSION: These valid NNN linkages for patients with multiple traumas can serve as a valuable resource that enables nurses, who face multiple time constraints, to make informed decisions efficiently. This approach of using evidence-based linkages like the one developed in this research holds high potential for improving patient's safety and outcomes. NO PATIENT OR PUBLIC CONTRIBUTION: In this study, there was no direct involvement of patients, service users, caregivers or public members in the design, conduct, analysis and interpretation of data or preparation of the manuscript. The study focused solely on analysing existing de-identified medical and nursing records to propose and validate linkages for nursing diagnoses.

Dental findings in Brazilian patients with Fanconi syndrome.

BACKGROUND: Fanconi syndrome (FS) is a generalized dysfunction of renal proximal tubules resulting in impaired reabsorption of amino acids, phosphate, urate, bicarbonate, glucose, and electrolytes. FS can be a primary renal impairment due to genetic origin or secondary to inborn errors of metabolism or systemic diseases. Main clinical findings are polyuria, failure to thrive, rickets/osteomalacia, metabolic acidosis, bone deformities, and, occasionally, nephrocalcinosis. Although dental abnormalities have been reported in patients with tubulopathies, oral manifestations in FS were very rarely described. CASE REPORT: Two patients with FS exhibiting important dental alterations were reported. Oral examination of the first patient revealed teeth with rough surfaces and white opaque areas. Early loss of primary teeth and delayed eruption of permanent teeth were also observed. Oral examination of the second patient detected delayed eruption of permanent teeth and X-ray images revealed loss of contrast between enamel and dentin. In both patients with FS, loss of bone density in maxilla and mandible was observed in X-ray images. CONCLUSIONS: This study is the first report of dental abnormalities in Brazilian patients with FS. Furthermore, our findings support the general idea that renal tubular disorders might impact on mineralized tissues of the oral cavity.

Sequenciamento total do exoma como ferramenta de diagnóstico de acidose tubular renal distal / Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis

Resumo Objetivo A acidose tubular renal distal (ATRd) é caracterizada por acidose metabólica devido à excreção renal de ácido prejudicada. O objetivo deste artigo é apresentar o diagnóstico genético de quatro crianças com ATRd com uso do sequenciamento total do exoma. Métodos Selecionamos duas famílias não relacionadas, quatro crianças com ATRd e seus pais, para fazer o sequenciamento total do exoma. A audição foi preservada em ambas as crianças da família um, porém em nenhuma criança da família dois, na qual um par de gêmeas teve perda auditiva severa. Fizemos o sequenciamento total do exoma em dois conjuntos de amostras e confirmamos os achados com o método de sequenciamento de Sanger. Resultados Duas mutações foram identificadas nos genes ATP6V0A4 e ATP6V1B1. Na família um, detectamos uma nova mutação no éxon 13 do gene ATP6V0A4 com uma alteração em um nucleotídeo único GAC → TAC (c.1232G>T) que causou substituição de ácido aspártico por tirosina na posição 411. Na família dois, detectamos uma mutação recorrente do homozigoto com inserção de um par de bases (c.1149_1155insC) no éxon 12 do gene ATP6V1B1. Conclusão Nossos resultados confirmam o valor do sequenciamento total do exoma para o estudo de nefropatias genéticas complexas e permitem a identificação de mutações novas e recorrentes. Adicionalmente, demonstramos claramente pela primeira vez a aplicação desse método molecular em doenças tubulares renais.

Abstract Objective Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole-exome sequencing. Methods Two unrelated families were selected; a total of four children with dRTA and their parents, in order to perform whole-exome sequencing. Hearing was preserved in both children from the first family, but not in the second, wherein a twin pair had severe deafness. Whole-exome sequencing was performed in two pooled samples and findings were confirmed with Sanger sequencing method. Results Two mutations were identified in the ATP6V0A4 and ATP6V1B1 genes. In the first family, a novel mutation in the exon 13 of the ATP6V0A4 gene with a single nucleotide change GAC → TAC (c.1232G>T) was found, which caused a substitution of aspartic acid to tyrosine in position 411. In the second family, a homozygous recurrent mutation with one base-pair insertion (c.1149_1155insC) in exon 12 of the ATP6V1B1 gene was detected. Conclusion These results confirm the value of whole-exome sequencing for the study of rare and complex genetic nephropathies, allowing the identification of novel and recurrent mutations. Furthermore, for the first time the application of this molecular method in renal tubular diseases has been clearly demonstrated.

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.

OBJECTIVE: Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole-exome sequencing. METHODS: Two unrelated families were selected; a total of four children with dRTA and their parents, in order to perform whole-exome sequencing. Hearing was preserved in both children from the first family, but not in the second, wherein a twin pair had severe deafness. Whole-exome sequencing was performed in two pooled samples and findings were confirmed with Sanger sequencing method. RESULTS: Two mutations were identified in the ATP6V0A4 and ATP6V1B1 genes. In the first family, a novel mutation in the exon 13 of the ATP6V0A4 gene with a single nucleotide change GAC → TAC (c.1232G>T) was found, which caused a substitution of aspartic acid to tyrosine in position 411. In the second family, a homozygous recurrent mutation with one base-pair insertion (c.1149_1155insC) in exon 12 of the ATP6V1B1 gene was detected. CONCLUSION: These results confirm the value of whole-exome sequencing for the study of rare and complex genetic nephropathies, allowing the identification of novel and recurrent mutations. Furthermore, for the first time the application of this molecular method in renal tubular diseases has been clearly demonstrated.

Application of molecular biology at the approach of Bartter's syndrome: case report.

This paper aims to show the utility of molecular biology for diagnose Bartter syndrome (BS) by the case report of two sisters and to propose a diagram for the molecular approach of this syndrome. The two reported cases presented prematurity, pregnancy complicated with polyhydramnio and low birth weight. During the first year of life, children exhibited polyuria, polydipsia and failure to thrive, leading to the investigation of renal tubular diseases and innate errors of metabolism. The laboratorial exams suggested BS, but the definitive diagnostic was only obtained by the detection of homozygous mutation on the exon 5 of the gene KCNJ1, resulting in a substitution of the aminoacid alanin for valin on codon 214 (A214V) in both DNA stripes in the two sisters and a heterozygous mutation in their parents. The definitive diagnostic of BS is frequently very difficult to be obtained. Consequently, considering the reported cases, we showed the utility of molecular techniques for the definitive diagnostic of BS and we proposed a diagram for the rational use of these techniques.

Aplicação da biologia molecular na abordagem da síndrome de Bartter: relato de caso / Application of molecular biology at the approach of Bartter's syndrome: case report

O presente trabalho teve como objetivo mostrar a utilidade da biologia molecular para o diagnóstico da síndrome de Bartter (SB) por meio do relato de caso de duas irmãs e propor um algoritmo para abordagem molecular dessa síndrome. Os dois casos relatados apresentaram prematuridade, gestação complicada com poli-hidrâmnio e baixo peso ao nascer. Durante o primeiro ano de vida, as crianças apresentaram poliúria, polidipsia e atraso no crescimento, o que levou à investigação de doenças tubulares renais e erros inatos do metabolismo. Os exames laboratoriais sugeriram SB, mas a confirmação diagnóstica só foi obtida pela detecção de mutação em homozigose no exon 5 do gene KCNJ1, resultando em substituição do aminoácido alanina por valina no códon 214 (A214V) nas duas fitas de DNA nas duas irmãs e de mutação em heterozigose em seus pais. O diagnóstico de certeza da SB muitas vezes é difícil de ser obtido. Dessa forma, por meio dos casos relatados, mostrou-se a utilidade de métodos moleculares para o diagnóstico de certeza da SB, e foi proposto um algoritmo para a utilização racional dessas técnicas.

This paper aims to show the utility of molecular biology for diagnose Bartter syndrome (BS) by the case report of two sisters and to propose a diagram for the molecular approach of this syndrome. The two reported cases presented prematurity, pregnancy complicated with polyhydramnio and low birth weight. During the first year of life, children exhibited polyuria, polydipsia and failure to thrive, leading to the investigation of renal tubular diseases and innate errors of metabolism. The laboratorial exams suggested BS, but the definitive diagnostic was only obtained by the detection of homozygous mutation on the exon 5 of the gene KCNJ1, resulting in a substitution of the aminoacid alanin for valin on codon 214 (A214V) in both DNA stripes in the two sisters and a heterozygous mutation in their parents. The definitive diagnostic of BS is frequently very difficult to be obtained. Consequently, considering the reported cases, we showed the utility of molecular techniques for the definitive diagnostic of BS and we proposed a diagram for the rational use of these techniques.

Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome.

BACKGROUND/AIMS: Amelogenesis imperfecta (AI) is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is to describe typical features of AI in 2 patients with Bartter's syndrome (BS) for the first time. METHODS: -Eight patients with confirmed BS were systematically screened for dental abnormalities as part of protocol. Those with suggestive clinical features of AI were submitted to panoramic X-ray and decayed teeth were analyzed by scanning electron microscopy. RESULTS: Typical features of AI were detected in 2 girls with BS. These 2 patients showed nephrocalcinosis, and diagnosis and adequate clinical control were delayed. Genetic analysis detected the mutation responsible for BS in 1 of these patients. In this case, BS was due to a homozygous mutation of exon 5 of the KCNJ1 gene resulting in a substitution of valine for alanine at the codon 214 (A214V). CONCLUSIONS: The finding of typical features of AI in BS might constitute preliminary evidence that abnormalities of the biomineralization process found in patients with renal tubular disorders might also affect calcium deposition in dental tissues.

A respeito da presença da Leishmania Donovani em Belo Horizonte: problemas diagnósticos do Calazar em área de um novo foco: questões teraupêuticas associadas ao uso da anfotericina B / The presence of Leishmania Donovani in Belo Horizonte: diagnostic problems of Calazar in an area of new focus: theraupetical questions related to the use of anfotericin B

É relatado o caso clínico de paciente adulto com febre de origem inderteminada e perda de peso inexplicável, procedente de área urbana que recentemente se tornou foco da Leishmania Donovani. A urbanização da leishmaniose não é só um alerta quanto ao descuido sanitário, mas revela o poder de adaptação da vida e da necessidade de se buscar na epidemiologia o apoio ao diagnóstico clínico. Enfatiza-se 0 cuidado permanente com o uso de anfotericina B.

The clinical case of adult patient with fever of unknown origin and inexplicable weight loss is described. The patient lived in urban area that, recently, became a focus Leishmania Donovani. The urbanization of leishmaniasis is a sign of sanitary carelessness and shows the power of adaptation of a living organism. There is a need of the support of an epidemiologist for the clinical diagnosis. The permanent care with the use of anfotericin B should be emphasized.

Associação de leucemia mieloblástica aguda com diabetes insipidus / Acute mieloblastic leukemia associated with diabetes insipidus

A leucemia mieloblástica aguda é doença grave, de prognóstico reservado e pequena sobrevida. Reporta-se neste trabalho a associação em uma pessoa entre leucemia mieloblástica aguda e diabetes insipidus, por infiltração leucêmica no sistema nervoso central.

The acute myeloblastic leukemia is a severe disease, marked by an unfavorable prognosis and low survival rates. We report one case of association between acute myeloblastic leukemia and diabetes insipidus caused by infiltration of the central nervous system.