JULIANA CAIRES DE OLIVEIRA ACHILI FERREIRA
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina
14 resultados
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Agora exibindo 1 - 10 de 14
- Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts(2023) VAISBICH, Maria Helena; MESSA, Ana Carola Hebbia Lobo; RANGEL-SANTOS, Andreia Cristiane; FERREIRA, Juliana Caires de Oliveira Achili; NUNES, Fernanda Andrade Macaferri da Fonseca; WATANABE, AndreiaBackground: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry. Methods: We evaluated the clinical and mutational profile of this cohort and performed a systematic review of BS mutations from worldwide cohorts. Results: Twenty-two patients were included; Gitelman syndrome was diagnosed in 2 siblings with antenatal BS and congenital chloride diarrhea in 1 girl. BS was confirmed in 19 patients: BS type 1 in 1 boy (antenatal BS); BS type 4a in 1 girl and BS type 4b in 1 girl, both of them with antenatal BS and neurosensorial deafness; BS type 3 (CLCNKB mutations): 16 cases. The deletion of the entire CLCNKB (1-20 del) was the most frequent variant. Patients carrying the 1-20 del presented earlier manifestations than those with other CLCNKB-mutations and the presence of homozygous 1-20 del was correlated with progressive chronic kidney disease. The prevalence of the 1-20 del in this BS Brazilian cohort was similar to that of Chinese cohorts and individuals of African and Middle Eastern descent from other cohorts. Conclusion: This study expands the genetic spectrum of BS patients with different ethnics, reveals some genotype/phenotype correlations, compares the findings with other cohorts, and provides a systematic review of the literature on the distribution of BS-related variants worldwide.
- Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease(2018) VAISBICH, Maria Helena; SATIRO, Carla Aline Fernandes; ROZ, Deborah; NUNES, Debora de Almeida Domingues; MESSA, Ana Carola H Lobo; LANETZKI, Camila; FERREIRA, Juliana Caires de Oliveira AchiliAbstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.
- Echocardiographic study of juvenile dermatomyositis patients: new insights from speckle-tracking-derived strain(2021) DINIZ, Maria de Fatima Rodrigues; KOZU, Katia Tomie; ELIAS, Adriana Maluf; LIANZA, Alessandro Cavalcanti; SAWAMURA, Karen Saori Shiraishi; MENEZES, Carolina Rocha Brito; FERREIRA, Juliana Caires de Oliveira Achili; SILVA, Clovis Artur; LEAL, Gabriela NunesObjectives This study aimed to investigate subclinical left ventricle (LV) systolic dysfunction in juvenile dermatomyositis (JDM) using two-dimensional speckle-tracking echocardiography (2DST). Possible associations between LV deformation impairment and disease activity/cumulative damage were also evaluated. Methods Thirty-fiveconsecutive JDM patients without cardiac symptoms and 35 healthy volunteers were enrolled. Clinical data were collected from medical records, and echocardiograms were performed by a pediatric cardiologist, unaware of patients' conditions. Results Patients and controls had similar age (12.6 +/- 0.7 vs.12.5 +/- 0.6;p= 0.97) and gender (11F:24M vs.11F:24M;p= 1.0). Median of JDM duration was 4.6 (0.04-17.6) years, and only 6/35 (17%) had active disease (disease activity score (DAS > 3)). Conventional echocardiogram revealed preserved LV ejection fraction (EF) (>= 55%) in all individuals. In JDM, 2DST identified reduction of LV longitudinal [-22(-17.2 to -27.9) % vs. -23(-20.8 to -27.4) %;p= 0.028)] and circumferential -23.9 +/- 2.8% vs. -26.7 +/- 2.9%;p= 0.0002) strain. Lower longitudinal strain was associated with DAS >3 -19.9(-17.2 to -26.5)% vs. -22.1-18.9 to -27.9)%;p= 0.046], MDI extent > 0 [-19(-17.2 to -22.5)% vs. -22.1-19.2 to -27.9)%;p= 0.0008], MDI severity > 0 [-19(-17.2 to -22.1)% vs. -22.3(-20.3 to -27.9)%;p= 0.0001] and calcinosis[-20.6(-17.2 to -23)% vs. -22.3(-20.3 to -27.9)%;p= 0.03]. Lower circumferential strain was associated with MDI extent > 0 (-22.1 +/- 3.87% vs. -24.4 +/- 2.3%;p= 0.039), MDI severity > 0 (-21.7 +/- 3% vs. 24.7 +/- 2.3%;p= 0.004) and calcinosis (-22.5 +/- 3.3% vs. -24.8 +/- 2.1%;p= 0.02). There was a negative correlation between longitudinal strain and cumulative dose of prednisone (r= -0.44;p= 0.009) and methotrexate (r= -0.33;p= 0.0008). Conclusions LV 2DST detected early systolic myocardial compromise in asymptomatic pediatric JDM patients, with preserved EF. Longitudinal strain impairment was associated with disease activity and cumulative damage, whereas circumferential strain impairment was associated exclusively with cumulative damage.
bookPart Cistinose nefropática(2020) SANTOS, Luciano Alvarenga dos; SANTIAGO, Maria Emilia; FERREIRA, Juliana Caires de Oliveira Achili; TEODORO, Ricardo Gabriel; VAISBICH, Maria HelenabookPart Pesquisa em enfermagem e a prática baseada em evidências(2020) FERREIRA, Juliana Caires de Oliveira Achili; SANTOS, Maria Lúcia Barbosa Maia dos; TAMINATO, Monica- Letter to the Editor: ""Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors""(2020) VAISBICH, Maria Helena; FERREIRA, Juliana Caires de Oliveira Achili; BARRETO, Fellype de Carvalho
- Adolescent nursing consultation: an important excerpt from care provided by nurses in a Brazilian state(2022) ROBBA, Hingrid Cristiane Silva; COSTA, Andrea Aoki; MONTEIRO, Ana Cristina dos Santos; CARNEVAL, Debora Renata; ROSSATO, Lisabelle Mariano; FERREIRA, Juliana Caires de Oliveira AchiliObjective: the care of adolescents with or without a chronic disease must complete, standardized and focused on individual demands and the transition process to adult care and adherence to treatment. This study aimed to characterize the care provided by nurses from the state of São Paulo who work with adolescents. Method: this is a cross-sectional and descriptive study on the care provided to adolescents by nurses in São Paulo, based on the answers to a self-administered questionnaire, available in the REDCap tool between August 2018 and October 2019. Results: participants answered 1632 questionnaires. Only 38% of nurses work with adolescents, 11.2% exclusively. Professionals were divided according to the median length of professional experience in groups A and B (≤5 years and >5 years). Drug addiction (p=0.01) and working with a multidisciplinary team (p=0.04) were significantly more reported in group B. Routine follow-up (p=0.02) and questioning about sexual or physical violence (p=0.03) were significantly more performed by professionals from group A. Conclusion: this study identified the need for a care protocol that can be replicated on a large scale and that includes the treatment and the particularities of adolescents to improve adherence and the transition into adult care.
bookPart Cuidado ao paciente gravde(2020) TRAGANTE, Carla Regina; FERREIRA, Juliana Caires de Oliveira Achili; SANTOS, Maria Lúcia Barbosa Maia dos; KREBS, Vera Lúcia Jornada- Adapted Crusting Technique in Children with Peristomal Lesions: A Case Series(2020) MONTEIRO, Ana Cristina Santos; SANTOS, Maria Lucia Barbosa Maia dos; SOUZA, Marcia Aparecida; FERREIRA, Juliana Caires de Oliveira AchiliOBJECTIVE To describe the care of pediatric patients who had a gastrostomy and developed peristomal lesions and received a systematic single adapted crusting technique in a pediatric ICU in a tertiary Brazilian hospital. METHODS An analysis of six cases presenting traumatic, noninfectious peristomal lesions with ostium enlargement resulting in gastric residual leaks. All six patients received the same treatment over 7 to 15 days. RESULTS Lesion improvement was observed in all patients after 48 hours and considered attributable to the standard treatment recommended by ostomy professionals. CONCLUSIONS The adapted crusting technique was effective in the treatment of children with peristomal lesions. This technique may be beneficial to other patient and organizational outcomes such as improving safety of care, decreasing pain and discomfort, reducing nursing workload and hospital costs, and improving quality of life.
- Nursing consultation with adolescents: an important part of the care provided by nurses in a Brazilian state(2022) ROBBA, Hingrid Cristiane Silva; COSTA, Andrea Aoki; MONTEIRO, Ana Cristina dos Santos; CARNEVAL, Debora Renata; ROSSATO, Lisabelle Mariano; FERREIRA, Juliana Caires de Oliveira AchiliObjective: the care of adolescents with or without a chronic disease must complete, standardized and focused on individual demands and the transition process to adult care and adherence to treatment. This study aimed to characterize the care provided by nurses from the state of Sao Paulo who work with adolescents. Method: this is a cross-sectional and descriptive study on the care provided to adolescents by nurses in Sao Paulo, based on the answers to a self-administered questionnaire, available in the REDCap tool between August 2018 and October 2019. Results: participants answered 1632 questionnaires. Only 38% of nurses work with adolescents, 11.2% exclusively. Professionals were divided according to the median length of professional experience in groups A and B (=5 years and > 5 years). Drug addiction (p=0.01) and working with a multidisciplinary team (p=0.04) were significantly more reported in group B. Routine follow-up (p=0.02) and questioning about sexual or physical violence (p=0.03) were significantly more performed by professionals from group A. Conclusion: this study identified the need for a care protocol that can be replicated on a large scale and that includes the treatment and the particularities of adolescents to improve adherence and the transition into adult care.