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1.
Acta Paediatr ; 113(6): 1420-1425, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38363039

RESUMEN

AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.


Asunto(s)
Aniridia , Opacidad de la Córnea , Gemelos Monocigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Femenino , Gemelos Monocigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicaciones , Tumor de Wilms/genética , Tumor de Wilms/complicaciones , Lactante , Opacidad de la Córnea/genética , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Enfermedades en Gemelos/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/complicaciones
2.
Int Braz J Urol ; 49(1): 110-122, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36512459

RESUMEN

OBJECTIVE: This study aimed to translate, and perform a cross-cultural adaptation, and validation of the Vancouver Symptom Score (VSS) for bladder and bowel dysfunction (BBD) for Brazilian children and adolescents Materials and Methods: Six steps were performed for the translation and cross-cultural adaptation: (1) translation, (2) synthesis of translations, (3) back-translation, (4) pre-final version of the translated instrument, (5) pilot test and degree of comprehensibility and (6) elaboration of the Brazilian version of the VSS. For validation, the Brazilian Dysfunctional Voiding Score (DVSS) questionnaire was used. RESULTS: Validation was performed on a sample of 107 children and adolescents with a mean age of 9.2 ± 2.84 years, presenting BBD and 107 without BBD (control group-CG). There was a positive correlation (r = 0.91, 95% CI 0.88 to 0.93, p < 0.0001) between total VSS score and total DVSS score. VSS was higher in patients with BBD (p < 0.0001). The internal consistency estimated by Cronbach's alpha was 0.87 for patients with BBD. The VSS showed excellent diagnostic accuracy in detecting cases, with an area under the ROC curve of 98% (95% CI 0.96 to 0.99, p < 0.001). A cut-off value of >11 points produced a sensitivity of 100% (95% CI 96.4% to 100%) and a specificity of 91.8% (95% CI 85.1% to 95.6%). CONCLUSION: The translated, cross-culturally adapted, and validated VSS for the Brazilian population is a reliable and valid tool to identify symptoms of BBD in children and adolescents aged five to 16 years, whose first language is Brazilian Portuguese.


Asunto(s)
Comparación Transcultural , Vejiga Urinaria , Adolescente , Niño , Humanos , Brasil , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Traducciones
3.
Pediatr Nephrol ; 37(3): 613-623, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34453601

RESUMEN

BACKGROUND: The grading of urinary tract dilatation (UTD) on postnatal sonography is a fundamental step to establish rational management for infants with antenatal hydronephrosis (ANH). The aim of this study was to compare the prediction accuracy of UTD grading systems for relevant clinical outcomes. In addition, we propose a refinement of the UTD classification by adding quantitative measurements and evaluate its impact on accuracy. METHODS: Between 1989 and 2019, 447 infants diagnosed with isolated AHN were prospectively followed. The events of interest were surgical interventions and kidney injury. Comparison of performance of the grading systems and the impact on the accuracy of a modified UTD classification (including the size of the kidney parenchyma) was assessed by the area under the receiver-operating characteristic curve (AUC). RESULTS: Of 447 infants, 131 (29%) underwent surgical intervention and 26 (5.8%) had developed kidney injury. The median follow-up time was 9 years (IQ range, 7-12 years). The performance for detecting the need for surgical intervention was excellent for all grading systems (AUC > 0.90). However, for predicting kidney injury, the modified UTD classification exhibited significant improvement in accuracy (AUC = 0.913, 95%CI, 0.883-0.937) as compared with UTD classification (AUC = 0.887, 95%CI, 0.854-0.915) (P = 0.027). CONCLUSIONS: Our study confirms that the hydronephrosis grading systems provide excellent accuracy in discriminating patients who need surgical intervention among infants with AHN. Our findings suggest that the inclusion of kidney parenchymal thickness to UTD classification might increase the accuracy for predicting infants who may develop kidney injury. A higher resolution version of the Graphical abstract is available as Supplementary information.


Asunto(s)
Hidronefrosis , Sistema Urinario , Dilatación , Femenino , Humanos , Hidronefrosis/diagnóstico por imagen , Hidronefrosis/etiología , Lactante , Riñón/diagnóstico por imagen , Masculino , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Sistema Urinario/diagnóstico por imagen
4.
An Acad Bras Cienc ; 94(suppl 3): e20201428, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36417599

RESUMEN

Based on an extensive analysis of public databases, we provide an overview of the global scientific output and describe the dynamics of the profound changes in the scientific enterprise during the last decades. The analysis included the scientific production of 53 countries over the 1996-2018 period. During this period, the production of articles per year has tripled. There was a strong correlation between the growth of the global gross domestic product and the increase in the number of articles (R2 = 0.973, P<0.001). Six countries showed a robust increment of their scientific production and are currently among the top 20 in the ranking of world scientific production (China, India, South Korea, Brazil, Turkey, and Iran). The mean annual growth rate was about 12.7% for these six countries. The share of the global scientific production of these countries increased from 7% in 1996 to 27.8% in 2018. Conversely, the participation of the 10 most traditional countries has dropped from 73% to 45% during the same period. In conclusion, we believe that our findings may contribute to further studies aiming to evaluate the impact and changes of the scientific endeavor over the next years in light of the forthcoming new world framework.


Asunto(s)
COVID-19 , Humanos , Brasil , China , Bases de Datos Factuales , India
5.
Int Braz J Urol ; 48(6): 944-951, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36173406

RESUMEN

OBJECTIVE: Primary monosymptomatic nocturnal enuresis (PMNE) is a prevalent condition in childhood, and the pathophysiology is multifactorial. This study investigated the relationship between the toilet training process (TT) and PMNE in children and adolescents. PATIENTS AND METHODS: A case-control study was carried out from 2015 to 2020. The presence of PMNE was identified according to International Children's Continence Society criteria. A semi-structured questionnaire was applied to assess TT. RESULTS: The study included 103 children and adolescents with PMNE and 269 participants with normal psychomotor development without PMNE (control group [CG]). Readiness signals were more remembered and less frequent in participants with PMNE (p=0.001) when compared to control group. No differences were found between the groups regarding the onset age of the daytime TT (p= 0.10), the nocturnal TT (p=0.08), the acquisition of daytime continence (p=0.06), and the type of equipment used for the TT (p=0.99). The use of Child-Oriented approach in group of children with enuresis was lower than in controls [87.4% (90/103) versus 94% (250/266)], respectively (OR= 0.44, 95% CI 0.21-0.94, p = 0.039). CONCLUSIONS: The age of onset of TT, acquisition of daytime continence, and the type of equipment were not associated with higher occurrence of PMNE. On the other hand, the Child-Oriented approach was a protective factor for the occurrence of PMNE.


Asunto(s)
Enuresis , Enuresis Nocturna , Adolescente , Estudios de Casos y Controles , Humanos , Enuresis Nocturna/epidemiología , Control de Esfínteres
6.
An Acad Bras Cienc ; 92(4): e20200700, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32844986

RESUMEN

The Brazilian scientific community and health care workers are working hard to provide support for the political health measures to deal with this unprecedented crisis of the COVID-19 pandemic. Paradoxically, while the society is looking forward for an immediate response of the scientific community, Brazilian scientists are facing a dramatic reduction in financial support for research and graduate programs.


Asunto(s)
Investigación Biomédica/economía , Infecciones por Coronavirus/epidemiología , Apoyo Financiero , Neumonía Viral/epidemiología , Betacoronavirus , Brasil , COVID-19 , Humanos , Pandemias , SARS-CoV-2
7.
Pediatr Nephrol ; 34(2): 283-294, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30196383

RESUMEN

BACKGROUND: Posterior urethral valves (PUVs) are associated with severe consequences to the urinary tract and are a common cause of chronic kidney disease (CKD). The aim of this study was to develop clinical predictive model of CKD in a cohort of patients with PUVs. METHODS: In this retrospective cohort study, 173 patients with PUVs were systematically followed up at a single tertiary unit. The primary endpoint was CKD ≥ stage 3. Survival analyses were performed by Cox regression proportional hazard models with time-fixed and time-dependent covariables. RESULTS: Mean follow-up time was 83 months (SD, 70 months). Sixty-five children (37.6%) developed CKD stage ≥ 3. After adjustment by the time-dependent Cox model, baseline creatinine, nadir creatinine, hypertension, and proteinuria remained as predictors of the endpoint. After adjustment by time-fixed model, three variables were predictors of CKD ≥ stage 3: baseline creatinine, nadir creatinine, and proteinuria. The prognostic risk score was divided into three categories: low-risk (69 children, 39.9%), medium-risk (45, 26%), and high-risk (59, 34.1%). The probability of CKD ≥ stage 3 at 10 years age was estimated as 6%, 40%, and 70% for patients assigned to the low-risk, medium-risk, and high-risk groups, respectively (P < 0.001). The main limitation was the preclusion of some relevant variables, especially bladder dysfunction, that might contribute to a more accurate prediction of renal outcome. CONCLUSION: The model accurately predicts the risk of CKD in PUVs patients. This model could be clinically useful in applying timely intervention and in preventing the impairment of renal function.


Asunto(s)
Modelos Biológicos , Insuficiencia Renal Crónica/epidemiología , Uretra/anomalías , Obstrucción Uretral/complicaciones , Preescolar , Progresión de la Enfermedad , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Modelos de Riesgos Proporcionales , Insuficiencia Renal Crónica/etiología , Estudios Retrospectivos , Medición de Riesgo/métodos , Factores de Riesgo , Análisis de Supervivencia , Obstrucción Uretral/congénito , Obstrucción Uretral/mortalidad
8.
J Bras Nefrol ; 46(3): e20230029, 2024.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-38502952

RESUMEN

INTRODUCTION: Lung diseases are common in patients with end stage kidney disease (ESKD), making differential diagnosis with COVID-19 a challenge. This study describes pulmonary chest tomography (CT) findings in hospitalized ESKD patients on renal replacement therapy (RRT) with clinical suspicion of COVID-19. METHODS: ESKD individuals referred to emergency department older than 18 years with clinical suspicion of COVID-19 were recruited. Epidemiological baseline clinical information was extracted from electronic health records. Pulmonary CT was classified as typical, indeterminate, atypical or negative. We then compared the CT findings of positive and negative COVID-19 patients. RESULTS: We recruited 109 patients (62.3% COVID-19-positive) between March and December 2020, mean age 60 ± 12.5 years, 43% female. The most common etiology of ESKD was diabetes. Median time on dialysis was 36 months, interquartile range = 12-84. The most common pulmonary lesion on CT was ground glass opacities. Typical CT pattern was more common in COVID-19 patients (40 (61%) vs 0 (0%) in non-COVID-19 patients, p < 0.001). Sensitivity was 60.61% (40/66) and specificity was 100% (40/40). Positive predictive value and negative predictive value were 100% and 62.3%, respectively. Atypical CT pattern was more frequent in COVID-19-negative patients (9 (14%) vs 24 (56%) in COVID-19-positive, p < 0.001), while the indeterminate pattern was similar in both groups (13 (20%) vs 6 (14%), p = 0.606), and negative pattern was more common in COVID-19-negative patients (4 (6%) vs 12 (28%), p = 0.002). CONCLUSIONS: In hospitalized ESKD patients on RRT, atypical chest CT pattern cannot adequately rule out the diagnosis of COVID-19.


Asunto(s)
COVID-19 , Fallo Renal Crónico , Humanos , Femenino , Persona de Mediana Edad , Anciano , Masculino , SARS-CoV-2 , Diálisis Renal , Tomografía Computarizada por Rayos X/métodos , Pulmón/diagnóstico por imagen , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/terapia , Estudios Retrospectivos
9.
J Bras Nefrol ; 45(4): 458-469, 2023.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-37948452

RESUMEN

INTRODUCTION: Chronic kidney disease (CKD) is defined as a progressive decline of kidney functions. In childhood, the main triggering factors are congenital anomalies of the kidneys and urinary tract (CAKUT) and glomerulopathies. Inflammatory responses present challenges for diagnosis and staging, which justifies studies on biomarkers/indexes. AIM: To define blood cell count indexes and verify their association with pediatric CKD etiology and staging. The included indexes were: Neutrophil-Lymphocyte Ratio (NLR), Derived Neutrophil-Lymphocyte Ratio (dNLR), Lymphocyte-Monocyte Ratio (LMR), Systemic Inflammation Response Index (SIRI), Aggregate Index of Systemic Inflammation (AISI), and Systemic Immune-Inflammation Index (SII). METHODS: We determined the indexes in 52 pediatric CKD patients and 33 healthy controls by mathematical calculation. CKD patients were separated in five groups based on the etiology and staging: Group IA: glomerulopathies at stage 1 or 2; IB: glomerulopathies at stage 3 or 4; IIA: CAKUT at stage 1 or 2; IIB: CAKUT at stage 3 or 4; and III: stages 3 or 4 of other etiologies. In addition, we combined all patients with CKD in one group (IV). Group V was a healthy control group. RESULTS: Lower values of LMR were observed for groups IB and IIB compared to group V (p = 0.047, p = 0.031, respectively). Increased values of SIRI were found for group III versus group V (p = 0.030). There was no difference for other indexes when the groups were compared two by two. CONCLUSION: The LMR and SIRI indexes showed promising results in the evaluation of inflammation, as they correlated with CKD etiologies and specially staging in these patients.


Asunto(s)
Inflamación , Insuficiencia Renal Crónica , Humanos , Niño , Estudios Retrospectivos , Recuento de Células Sanguíneas
10.
Curr Mol Pharmacol ; 16(4): 465-474, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35713131

RESUMEN

Idiopathic Nephrotic Syndrome (INS) is the most frequent etiology of glomerulopathy in pediatric patients and one of the most common causes of chronic kidney disease (CKD) and end-stage renal disease (ESRD) in this population. In this review, we aimed to summarize evidence on the pathophysiological role and therapeutic potential of the Renin-Angiotensin System (RAS) molecules for the control of proteinuria and for delaying the onset of CKD in patients with INS. This is a narrative review in which the databases PubMed, Web of Science, and Sci- ELO were searched for articles about INS and RAS. We selected articles that evaluated the pathophysiological role of RAS and the effects of the alternative RAS axis as a potential therapy for INS. Several studies using rodent models of nephropathies showed that the treatment with activators of the Angiotensin-Converting Enzyme 2 (ACE2) and with Mas receptor agonists reduces proteinuria and improves kidney tissue damage. Another recent paper showed that the reduction of urinary ACE2 levels in children with INS correlates with proteinuria and higher concentrations of inflammatory cytokines, although data with pediatric patients are still limited. The molecules of the alternative RAS axis comprise a wide spectrum, not yet fully explored, of potential pharmacological targets for kidney diseases. The effects of ACE2 activators and receptor Mas agonists show promising results that can be useful for nephropathies including INS.


Asunto(s)
Síndrome Nefrótico , Sistema Renina-Angiotensina , Humanos , Enzima Convertidora de Angiotensina 2 , Síndrome Nefrótico/tratamiento farmacológico , Proteinuria , Insuficiencia Renal Crónica/tratamiento farmacológico , Sistema Renina-Angiotensina/fisiología
11.
World J Pediatr ; 19(10): 949-960, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36914907

RESUMEN

BACKGROUND: This study aimed to estimate vaccine effectiveness (VE) against omicron variant infection and severe corona virus disease 2019 (COVID-19) in children aged 5-11 years hospitalized with acute respiratory syndrome. METHODS: A test-negative, case-control analysis was conducted from February 2022 to June 2022. We enrolled 6950 eligible children, including 1102 cases and 5848 controls. VE was calculated after immunization with one and two doses of BNT162b2 or CoronaVac. The outcomes were hospitalization with acute respiratory symptoms and detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and severe COVID-19. The adjusted odds ratio for the association of prior vaccination and outcomes was used to estimate VE. RESULTS: For fully vaccinated children, the overall estimated VE against hospitalization with SARS-CoV-2 infection was 42% [95% confidence interval (CI) 26 to 54]. VE peaked at 29-42 days (67%, 95% CI 40% to 82%) and then declined to 19% (95% CI, - 20% to 45%) at 57-120 days after the second dose. The BNT162b2 vaccine had a similar VE against hospitalization with SARS-CoV-2 infection (45%, 95% CI, 20 to 61) compared to the CoronaVac vaccine (40%, 95% CI, 17% to 56%). Among cases, 56 (5%) children died; 53 (94.6%) were not fully vaccinated. For cases, the two-dose schedule effectiveness against ICU admission, need for invasive ventilation, severe illness, and death were 10% (95% CI, - 54%-45%), 22% (95% CI - 70%-68%), 12% (95% CI, - 62%-52%), and 16% (95% CI, - 77%-75%), respectively. CONCLUSIONS: For hospitalized children aged 5-11 years during the omicron-predominant period in Brazil, two doses of both vaccines had moderate effectiveness against hospitalization with acute respiratory symptoms and SARS-CoV-2 infection and offered limited protection against endpoints of COVID-19 severity.


Asunto(s)
COVID-19 , Vacunas , Humanos , Niño , SARS-CoV-2 , COVID-19/epidemiología , COVID-19/prevención & control , Vacuna BNT162
12.
J Bras Nefrol ; 44(2): 296-300, 2022.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-33605312

RESUMEN

OBJECTIVE: To report the case of a pediatric patient with bilateral hydronephrosis due to vesicoureteral junction obstruction (VUJO) that was treated non-surgically and to discuss the approach of this anomaly. CASE DESCRIPTION: A 25-month-old boy was referred without complaints for consultation due to prenatal ultrasound showing kidneys with cysts. He was under antibiotic prophylaxis. No family history of kidney disease and/or inherited disorders was reported. Renal ultrasound (RUS) at 2 days of life showed bilateral hydronephrosis, thus ruling out the possibility of kidney cystic disease. Dynamic renal scintigraphy (DTPA) showed marked retention of the marker in the pyelocaliceal system bilaterally, with little response to diuretic drug. He was maintained under antibiotic prophylaxis, when a new RUS showed bilateral ureteral dilatation, abrupt stenosis in the ureterovesical transition region (0.2 cm caliber), moderate bilateral hydronephrosis, and slight renal cortical thickness, confirming the diagnosis of VUJO. At 2 years and 10 months of age, DTPA showed hydronephrosis and ureteral stasis in both kidneys secondary to stenosis at the vesicoureteral junction (VUJ) level, with preservation of kidney function and slow degree of emptying. We opted for a non-surgical approach. RUS at 10 years of age showed significant improvement of all parameters, with ureteral transverse diameter of 9 mm, preserved VUJ, and age-appropriate bilateral kidney development. COMMENTS: VUJO is a major cause of prenatal hydronephrosis and can trigger a deterioration of kidney function. Its treatment is still controversial but should take into account the importance of clinical follow-up and serial imaging evaluation.


Asunto(s)
Hidronefrosis , Obstrucción Ureteral , Niño , Preescolar , Constricción Patológica/complicaciones , Humanos , Hidronefrosis/etiología , Hidronefrosis/terapia , Pelvis Renal , Masculino , Ácido Pentético , Estudios Retrospectivos , Obstrucción Ureteral/complicaciones , Obstrucción Ureteral/terapia
13.
J Bras Nefrol ; 44(1): 19-25, 2022.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-34251390

RESUMEN

INTRODUCTION: Studies have shown that the renin angiotensin aldosterone system (RAAS) and inflammation are related to kidney injury progression. The aim of this study was to evaluate RAAS molecules and chemokine (C-C motif) ligand 2 (CCL2) in 82 patients with chronic kidney disease (CKD). METHODS: Patients were divided into two groups: patients diagnosed with CKD and patients without a CKD diagnosis. Glomerular filtration rate (GFR) and albumin/creatinine ratio (ACR) were determined, as well as plasma levels of angiotensin-(1-7) [Ang-(1-7)], angiotensin-converting enzyme (ACE)1, ACE2, and plasma and urinary levels of CCL2. RESULTS: CCL2 plasma levels were significantly higher in patients with CKD compared to the control group. Patients with lower GFR had higher plasma levels of ACE2 and CCL2 and lower ratio ACE1/ACE2. Patients with higher ACR values had higher ACE1 plasma levels. CONCLUSION: Patients with CKD showed greater activity of both RAAS axes, the classic and alternative, and higher plasma levels of CCL2. Therefore, plasma levels of RAAS molecules and CCL2 seem to be promising prognostic markers and even therapeutic targets for CKD.


Asunto(s)
Quimiocina CCL2 , Insuficiencia Renal Crónica , Sistema Renina-Angiotensina , Enzima Convertidora de Angiotensina 2 , Tasa de Filtración Glomerular , Humanos , Peptidil-Dipeptidasa A , Insuficiencia Renal Crónica/orina
14.
PLoS One ; 17(12): e0279298, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36538565

RESUMEN

Glucocorticoids (GC) replacement are the mainstay treatment for 21-hydroxylase deficiency (21-OHD), the most common cause of congenital adrenal hyperplasia (CAH), in its classical form. There are novel insights into the genetic basis of the GC action diversity that point to an important role for GC receptor (GR) gene polymorphisms, suggesting a possible modulation in occurrence of metabolic disorders, what may be relevant to clinical management of 21-OHD. The aim of this study was to investigate whether the five GR gene polymorphisms Tth111I, ER22, 23EK, BclI, 9ß (rs10052957, rs6189, rs6190, rs41423247, rs6198) and their combination into haplotypes are associated to different GC response in a cohort of classic 21-OHD subjects. GR genotype-phenotype associations were explored after a dexamethasone suppression test using very low-doses (VLD-DST), 20 and 40 µg/m². The final sample (n = 28) was selected based on the 102 individuals' previous genotypes classification, according to literature data of GC sensitivity or resistance. Thus, only patients with GC increased resistance (n = 18) or increased sensitivity (n = 10) profiles were selected. Out of 28 subjects aged 12 (2-34) years enrolled in this study, 75% were females, 75% presented the salt-wasting form (SW) and 25% the simple virilizing form (SV). Subjects who carried Tth111I and 9ß, associated or not to the ER22/23EK variants, showed an impaired DST response. Results did not differ significantly according to gender or body mass index. SV subjects with GC hypersensitivity-genotypes showed decreased average cortisol levels compared to those with GC resistance-genotypes (p = 0.0023). The Tth111I + 9ß/ Wild or Tth111I + ER22/23EK + 9ß/ Wild genotypes were associated to GC resistance in this population. This finding may be relevant given the challenges posed by therapeutic management with GC in CAH.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Glucocorticoides , Femenino , Masculino , Humanos , Glucocorticoides/uso terapéutico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/genética , Farmacogenética , Polimorfismo Genético , Receptores de Glucocorticoides/genética
15.
Sao Paulo Med J ; 140(4): 559-565, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35946679

RESUMEN

BACKGROUND: Acute kidney injury (AKI) is a frequent complication during the postoperative period following liver transplantation. Occurrence of AKI in intensive care unit (ICU) patients is associated with increased mortality and higher costs. OBJECTIVE: To evaluate occurrences of moderate or severe AKI among patients admitted to the ICU after liver transplantation and investigate characteristics associated with this complication. DESIGN AND SETTING: Single-center retrospective cohort study in a public hospital, Belo Horizonte, Brazil. METHODS: Forty-nine patients admitted to the ICU between January 2015 and April 2017 were included. AKI was defined from a modified Kidney Disease Improving Global Outcomes (KDIGO) score (i.e. based exclusively on serum creatinine levels). RESULTS: Eighteen patients (36.7%) developed AKI KDIGO 2 or 3; mostly KDIGO 3 (16 out of the 18 patients). Lactate level within the first six hours after ICU admission (odds ratio, OR: 1.3; 95% confidence interval, CI: 1.021-1.717; P = 0.034) and blood transfusion requirement within the first week following transplantation (OR: 8.4; 95% CI: 1.687-41.824; P = 0.009) were independently associated with development of AKI. Patients with AKI KDIGO 2 or 3 underwent more renal replacement therapy (72.2% versus 3.2%; P < 0.01), had longer hospital stay (20 days versus 15 days; P = 0.001), higher in-hospital mortality (44.4% versus 6.5%; P < 0.01) and higher mortality rate after one year (44.4% versus 9.7%; P = 0.01). CONCLUSION: Need for blood transfusion during ICU stay and hyperlactatemia within the first six postoperative hours after liver transplantation are independently associated with moderate or severe AKI. Developing AKI is apparently associated with poor outcomes.


Asunto(s)
Lesión Renal Aguda , Trasplante de Hígado , Lesión Renal Aguda/etiología , Creatinina , Mortalidad Hospitalaria , Humanos , Unidades de Cuidados Intensivos , Lactatos , Trasplante de Hígado/efectos adversos , Estudios Retrospectivos , Factores de Riesgo
16.
Pediatr Nephrol ; 26(5): 739-47, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21331646

RESUMEN

This study aimed to identify noninvasive biomarkers of clinically significant nephrouropathies in patients with antenatal renal and/or urinary tract alterations. Spot-urine levels of interleukin-6 (IL-6), transforming growth factor-ß1 (TGF-ß1) and tumor necrosis factor-α (TNF-α) were measured in 100 patients with antenatal detected nephrouropathies. Patients were divided in idiopathic hydronephrosis (n = 47), urinary tract malformations (n = 35), and dysplastic kidneys (n = 18). Urinary concentrations of TGF-ß1, IL-6, and TNF-α were compared between groups according to clinical and image findings. Receiver-operating characteristic (ROC) curves were analyzed for the overall diagnostic accuracy of TGF-ß1, IL-6, and TNF-α levels in discriminating infants with nephrouropathies. No significant differences in urinary TGF- ß1, IL-6, and TNF-α levels were found in the comparison between the groups. TGF-ß1 levels tended to be higher in patients with renal hypodysplasia compared to idiopathic hydronephrosis (p = 0.07). Twenty-nine patients had reduced DMSA uptake. In these cases, absolute urinary concentration of TGF-ß1 and levels standardized for creatinine were significantly higher than in patients with normal DMSA uptake, while IL6 and TNF-α did not differ between groups. Urinary cytokine measurements were not useful as a screening test for clinically significant nephrouropathies. Conversely, increased concentrations of TGF-ß1 pointed out to renal damage as indicated by reduced DMSA uptake.


Asunto(s)
Citocinas/orina , Factor de Crecimiento Transformador beta1/orina , Enfermedades Urológicas/congénito , Enfermedades Urológicas/orina , Adulto , Anciano , Anciano de 80 o más Años , Área Bajo la Curva , Biomarcadores/orina , Estudios Transversales , Femenino , Humanos , Riñón/anomalías , Masculino , Persona de Mediana Edad , Curva ROC , Sistema Urinario/anomalías , Adulto Joven
17.
J Bras Nefrol ; 43(3): 400-409, 2021.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-33704348

RESUMEN

Advanced age is a risk factor for severe infection by acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Children, however, often present with milder manifestations of Coronavirus Disease 2019 (COVID-19). Associations have been found between COVID-19 and multisystem inflammatory syndrome in children (MIS-C). Patients with the latter condition present more severe involvement. Adults with comorbidities such as chronic kidney disease (CKD) are more severely affected. This narrative review aimed to look into whether CKD contributed to more severe involvement in pediatric patients with COVID-19. The studies included in this review did not report severe cases or deaths, and indicated that pediatric patients with CKD and previously healthy children recovered quickly from infection. However, some patients with MIS-C required hospitalization in intensive care units and a few died, although it was not possible to correlate MIS-C and CKD. Conversely, adults with CKD reportedly had increased risk of severe infection by SARS-CoV-2 and higher death rates. The discrepancies seen between age groups may be due to immune system and renin-angiotensin system differences, with more pronounced expression of ACE2 in children. Immunosuppressant therapy has not been related with positive or negative effects in individuals with COVID-19, although current recommendations establish decreases in the dosage of some medications. To sum up with, CKD was not associated with more severe involvement in children diagnosed with COVID-19. Studies enrolling larger populations are still required.


Asunto(s)
COVID-19 , Insuficiencia Renal Crónica , Adulto , Niño , Humanos , Pronóstico , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria Sistémica
18.
J Bras Nefrol ; 42(1): 67-76, 2020 03.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-31939995

RESUMEN

Despite the current availability of safe and efficient drugs for treating hypertension, a substantial number of patients are drug-resistant hypertensives. Aiming this condition, a relatively new approach named catheter-based renal denervation was developed. We have now a clinically relevant time window to review the efficacy of renal denervation for treating this form of hypertension. This short review addresses the physiological contribution of renal sympathetic nerves for blood pressure control and discusses the pros and cons of renal denervation procedure for the treatment of resistant hypertension.


Asunto(s)
Hipertensión Renal/cirugía , Riñón/inervación , Simpatectomía/efectos adversos , Simpatectomía/métodos , Sistema Nervioso Simpático/cirugía , Adulto , Presión Sanguínea , Humanos , Hipertensión Renal/fisiopatología , Riñón/fisiopatología , Riesgo , Sistema Nervioso Simpático/fisiopatología , Resultado del Tratamiento
19.
Curr Med Chem ; 27(32): 5374-5402, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31291871

RESUMEN

Traumatic Brain Injury (TBI) is a major public health problem. It is the leading cause of death and disability, especially among children and young adults. The neurobiology basis underlying TBI pathophysiology remains to be fully revealed. Over the past years, emerging evidence has supported the hypothesis that TBI is an inflammatory based condition, paving the way for the development of potential therapeutic targets. There is no treatment capable to prevent or minimize TBIassociated outcomes. Therefore, the search for effective therapies is a priority goal. In this context, animal models have become valuable tools to study molecular and cellular mechanisms involved in TBI pathogenesis as well as novel treatments. Herein, we discuss therapeutic strategies to treat TBI focused on immunomodulatory and/or anti-inflammatory approaches in the pre-clinical setting.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Animales , Antiinflamatorios , Lesiones Traumáticas del Encéfalo/terapia , Niño , Humanos , Investigación , Adulto Joven
20.
J Bras Nefrol ; 41(2): 252-265, 2019.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-30465590

RESUMEN

Involvement of the kidneys by lupus nephritis (LN) is one of the most severe clinical manifestations seen in individuals with systemic lupus erythematosus (SLE). LN is more frequent and severe in pediatric patients and has been associated with higher morbidity and mortality rates. This narrative review aimed to describe the general aspects of LN and its particularities when affecting children and adolescents, while focusing on the disease's etiopathogenesis, clinical manifestations, renal tissue alterations, and treatment options.


Asunto(s)
Nefritis Lúpica/epidemiología , Nefritis Lúpica/patología , Enfermedades Raras/epidemiología , Enfermedades Raras/patología , Adolescente , Biomarcadores/sangre , Biomarcadores/orina , Niño , Preescolar , Diagnóstico Precoz , Femenino , Humanos , Lactante , Recién Nacido , Nefritis Lúpica/diagnóstico , Nefritis Lúpica/tratamiento farmacológico , Masculino , Prevalencia , Enfermedades Raras/diagnóstico , Enfermedades Raras/tratamiento farmacológico
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