FERNANDA ANDRADE MACAFERRI DA FONSECA NUNES
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
5 resultados
Resultados de Busca
Agora exibindo 1 - 5 de 5
conferenceObject A BIOREPOSITORY AND A CLINICAL-LABORATORIAL DATABASE OF JUVENILE AUTOIMMUNE DISEASES: A RESOURCE FOR THE FUTURE(2013) LIPHAUS, B. L.; PATRAO, D. F. C.; REIS, J. M. A.; FONSECA, F. A. M.; NETO, F. C.; CARNEIRO-SAMPAIO, M. M. S.- 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.
- N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis(2014) GUIMARAES, Luciana Pache de Faria; SEGURO, Antonio Carlos; SHIMIZU, Maria Heloisa Mazzola; NERI, Leticia Aparecida Lopes; SUMITA, Nairo Massakasu; BRAGANCA, Ana Carolina de; VOLPINI, Rildo Aparecido; SANCHES, Talita Rojas Cunha; FONSECA, Fernanda Andrade Macaferri da; MOREIRA FILHO, Carlos Alberto; VAISBICH, Maria HelenaNephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage. Cysteamine is an essential component of treatment. There is solid evidence that cystine accumulation itself is not responsible for all abnormalities in cystinosis; there is also a deficiency of glutathione in the cytosol. Patients with cystinosis can be more susceptible to oxidative stress. The patient cohort comprised 23 cystinosis patients (16 males) aged < 18 years (mean age 8.0 +/- 3.6 years) with chronic kidney disease class I-IV with good adherence to treatment, including cysteamine. Oxidative stress was evaluated based on the levels of serum thiobarbituric acid-reactive substances (TBARS), and renal function was evaluated based on serum creatinine and cystatin C levels and creatinine clearance (Schwartz formula). N-Acetylcysteine (NAC), an antioxidant drug was given to all patients for 3 months (T1) at 25 mg/kg/day divided in three doses per day. The measured values at just before the initiation of NAC treatment (T0) served as the control for each patient. Median serum TBARS levels at T0 and T1 were 6.92 (range 3.3-29.0) and 1.7 (0.6-7.2) nmol/mL, respectively (p < 0.0001). In terms of renal function at T0 and T1, serum creatinine levels (1.1 +/- 0.5 vs. 0.9 +/- 0.5 mg/dL, respectively; p < 0.0001), creatinine clearance (69.7 +/- 32.2 vs. T1 = 78.5 +/- 33.9 mL/min/1.73 m(2), respectively; p = 0.006), and cystatin c level (1.33 +/- 0.53 vs. 1.15 +/- 0.54 mg/l, respectively; p = 0.0057) were all significantly different at these two time points. Serum creatinine measurements at 6 (T -6) and 3 months (T -3) before NAC initiation and at 3 (T +3) and 6 months (T +6) after NAC had been withdrawn were also evaluated. During the 3-month period that our 23 cystinosis patients were treated with NAC, oxidative stress was reduced and renal function significantly improved. No side-effects were detected. Larger and controlled studies are needed to confirm these findings.
- Monocyte-to-HDL ratio and non-HDL cholesterol were predictors of septic shock in newborns(2022) FONSECA, Fernanda Andrade Macaferri da da; ESPOSITO, Aline Paulino; SILVA, Maria Helena Baptista Nunes da; NUNES, Valeria Sutti; CAZITA, Patricia Miralda; FERREIRA, Guilherme Silva; CECCON, Maria Esther Jurfest Rivero; CARVALHO, Werther Brunow de; CARNEIRO-SAMPAIO, Magda; PALMEIRA, PatriciaBackground: The association between lipoprotein levels and late-onset neonatal sepsis has shown controversial results. The aims are to assess lipid profile, cytokines, and Monocyte-to-HDL (M/H) ratio as diagnostic and prog-nostic markers for late-onset neonatal sepsis.Methods: This prospective study included 49 septic neonates and 17 controls. Cholesterol (CT), Triglyceride (TG), Very-Low-Density (VLDLc), Low-Density (LDLc), and High-Density Lipoproteins (HDLc) were measured at admis-sion (D0) and on days 3, 7 and 10 to evaluate septic shock outcomes. Cytokines and monocytes were evaluated by flow cytometry.Results: Septic newborns showed higher IL-6 and IL-8 at D0 and CT levels on D7 and on D10, which also presented higher TG, VLDLc and non-HDL cholesterol concentrations than controls. The septic shock group (n = 22) revealed a higher number of male subjects, CRP, IL-6, IL-8 and IL-10 levels, while lower TG, HDLc, monocyte numbers and M/H ratio at admission compared to the non-shock group (n = 27). M/H ratio and non-HDL choles-terol on D0 were risk factors for septic shock (OR = 0.70, 0.49-0.99; OR = 0.96, 0.92-0.99, respectively). Decreasing levels from D0 to D3 of CT (OR = 0.96, 0.93-0.99), VLDLc (OR = 0.91, 0.85-0.98), and non-HDL cholesterol (OR = 0.92, 0.87-0.98) were also predictors of septic shock.Conclusions: Lower M/H ratios and non-HDL cholesterol at admission and decreasing levels of cholesterol, VLDLc and non-HDL cholesterol during a hospital stay are associated with the development of septic shock in newborns with late-onset neonatal sepsis.
- Macrophage profile and homing into breast milk in response to ongoing respiratory infections in the nursing infant(2020) ZHENG, Yingying; CORREA-SILVA, Simone; SOUZA, Eloisa Correa de; RODRIGUES, Regina Maria; FONSECA, Fernanda A. Macaferri da; GILIO, Alfredo Elias; CARNEIRO-SAMPAIO, Magda; PALMEIRA, PatriciaStudies have shown that immune components of human milk can be changed during an infection in the nursing infant. Macrophages are abundant in human milk and they are classified into inflammatory (CD16(-)) and noninflammatory (CD16(+)) subsets. This study investigated CD16(+) and CD16(-) macrophage homing into breast milk in response to ongoing infections in nursing infants. Peripheral blood and mature milk were collected from 33 healthy mothers of nursing infants with respiratory infections (Group I) and from 26 healthy mothers of healthy nursing infants (Group H). Blood and milk total, CD16(-) and CD16(+) monocyte (Mo)/macrophage (M phi) subsets, respectively, and CCR2 and CX3CR1 expression and cytokine levels were analyzed by flow cytometry. CCL2 and CX3CL1 were quantified by ELISA and cytokines by flow cytometry in serum and milk. There was an increase of total and CD16(+) M phi, and, also a decrease of CD16- M phi frequencies in maternal milk from Group I compared to Group H, but absolute numbers analyses showed higher numbers of all subpopulations of milk M phi in Group I compared to Group H. Higher numbers of CX3CR1(+)CD16(+) and double-staining of CCR2 and CX3CR1 in both CD16(+) and CD16(-) cells were observed in milk during infant infection, which weren't observed in the blood. CCR2 expression was hardly found in milk CD16(-) M phi in both groups. CCL2 and CX3CL1 were both higher in milk than in blood from both groups, but Group I showed higher levels of these chemokines in milk than Group H. Breast milk showed higher IL-6 and IL-8 concentrations than serum, and infant infection caused an increase in these cytokines only in milk. Our findings suggest that milk M phi profiles are different from blood Mo, and the ongoing infection in the nursing infant could change milk M phi to a more anti-inflammatory profile compared to that in the healthy group, possibly as an additional strategy of infant protection.