Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021
Endrigo Antônio de CarvalhoRoberto Del Claro HopkerGustavo Henrique PedrosoLeonardo Silva de AlmeidaJosé Alfredo Trevisan PacherAnna Liza AntonioJosiane SouzaMichelle Silva ZenyMara Lúcia Schmitz Ferreira SantosDaniel Almeida do ValleFabiana Antunes Andrade
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Abstract Objective: To analyze the first referral service for rare diseases accredited by the Brazilian Ministry of Health, focusing on referral from the primary healthcare network through to diagnosis. Methods: This is a descriptive study with patients treated between 2016 and 2021 at a referral hospital service located in Curitiba, Paraná, Brazil. Clinical and epidemiological data were obtained from medical records, as were the results of genetic tests at the hospital’s clinical analysis laboratory. Qualitative data were expressed as absolute and relative frequencies, while quantitative data were expressed as medians and interquartile ranges and compared using the Kruskal-Wallis test. Results: The study included 1,751 cases, 34.1% were diagnosed with rare diseases, with average time until diagnosis being 3.0 years, whereby mucopolysaccharidosis type II (4.0%) and tuberous sclerosis (3.9%) were the most common. Greater length of time for obtaining diagnosis (p-value 0.004) and receiving specialized care (p-value<0.001) was found in patients from the interior region of Paraná state, compared to those residing in Curitiba city and its metropolitan region. Conclusion: Diagnosis of rare diseases occurred in approximately one third of cases. The average time until diagnosis suggests a possible positive impact of implementing the referral service. The longer time until diagnosis and specialized care found among patients from the interior region of Paraná represent challenges regarding adequate referral to specialized services.Keywords:
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ANGEL CLAIRE IN CURITIBA BRUNILDA REICHMANN LEMOS BRUNILDA REICHMANN LEMOS Curitiba, Brasil Search for other works by this author on: Oxford Academic Google Scholar Notes and Queries, Volume 29, Issue 4, August 1982, Pages 326-b–327, https://doi.org/10.1093/nq/29-4-326b Published: 01 August 1982
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· AIM: To determine the effect of topical 0.05% cyclosporine A (CsA) on corneal endothelium in patients with dry eye disease. · METHODS: Observational, prospective, case series study. Fifty-five eyes of 29 consecutive patients (9 males and 20 females; median age: 66.8 years, interquartile range: 61 -73.2 years) with moderate -severe dry eye disease were evaluated. All patients were treated with topical 0.05% CsA ophthalmic emulsion twice a day in addition to lubricant eyedrops 5 times a day. The follow- up period was 12 months. Before treatment and at 3 and 12 months post -treatment central corneal specular microscopy was performed. The endothelial cell density (ECD), coefficient of variation of cell size (CoV), and percentage of hexagonal cells (Hex %) were analyzed. ·RESULTS: The median ECDs pre-treatment and at 3 and 12 months post-treatment were 2 352.5/mm 2 (inter- quartile range, 2 178 -2548.5), 2 364/mm 2 (interquartile range, 2 174.25 -2 657.5), and 2 366 cells/mm 2 (inter - quartile range, 2 174.75-2 539.75), respectively (P=0.927, one way ANOVA). The median CoVs pre-treatment and at 3 and 12 months post -treatment were 34.5 (interquartile range, 30 -37), 35 (interquartile range, 30 -38), and 34 (interquartile range, 30.75-38.25), respectively (P=0.7193, one way ANOVA). The median Hex % values pre - treatment and at 3 and 12 months post -treatment were 53 (interquartile range, 47 -58), 54 (interquartile range, 45.75 -59), and 50.5 (interquartile range, 45.75 -58), respectively (P=0.824, one way ANOVA). · CONCLUSION: Treatment of patients with dry eye disease for 12 months with topical 0.05% CsA does not seem to cause substantial changes on corneal endothelium.
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To determine the effect of topical 0.05% cyclosporine A (CsA) on corneal endothelium in patients with dry eye disease.Observational, prospective, case series study. Fifty-five eyes of 29 consecutive patients (9 males and 20 females; median age: 66.8 years, interquartile range: 61-73.2 years) with moderate-severe dry eye disease were evaluated. All patients were treated with topical 0.05% CsA ophthalmic emulsion twice a day in addition to lubricant eyedrops 5 times a day. The follow-up period was 12 months. Before treatment and at 3 and 12 months post-treatment central corneal specular microscopy was performed. The endothelial cell density (ECD), coefficient of variation of cell size (CoV), and percentage of hexagonal cells (Hex %) were analyzed.The median ECDs pre-treatment and at 3 and 12 months post-treatment were 2 352.5/mm(2) (interquartile range, 2 178-2 548.5), 2364/mm(2) (interquartile range, 2 174.25-2 657.5), and 2366 cells/mm(2) (interquartile range, 2 174.75-2 539.75), respectively (P=0.927, one way ANOVA). The median CoVs pre-treatment and at 3 and 12 months post-treatment were 34.5 (interquartile range, 30-37), 35 (interquartile range, 30-38), and 34 (interquartile range, 30.75-38.25), respectively (P=0.7193, one way ANOVA). The median Hex % values pre-treatment and at 3 and 12 months post-treatment were 53 (interquartile range, 47-58), 54 (interquartile range, 45.75-59), and 50.5 (interquartile range, 45.75-58), respectively (P=0.824, one way ANOVA).Treatment of patients with dry eye disease for 12 months with topical 0.05% CsA does not seem to cause substantial changes on corneal endothelium.
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To determine the prevailing hemoglobin levels in PICU patients, and any potential correlates.Post hoc analysis of prospective multicenter observational data.Fifty-nine PICUs in seven countries.PICU patients on four specific days in 2012.None.Patients' hemoglobin and other clinical and institutional data. Two thousand three hundred eighty-nine patients with median age of 1.9 years (interquartile range, 0.3-9.8 yr), weight 11.5 kg (interquartile range, 5.4-29.6 kg), and preceding PICU stay of 4.0 days (interquartile range, 1.0-13.0 d). Their median hemoglobin was 11.0 g/dL (interquartile range, 9.6-12.5 g/dL). The prevalence of transfusion in the 24 hours preceding data collection was 14.2%. Neonates had the highest hemoglobin at 13.1 g/dL (interquartile range, 11.2-15.0 g/dL) compared with other age groups (p < 0.001). The percentage of 31.3 of the patients had hemoglobin of greater than or equal to 12 g/dL, and 1.1% had hemoglobin of less than 7 g/dL. Blacks had lower median hemoglobin (10.5; interquartile range, 9.3-12.1 g/dL) compared with whites (median, 11.1; interquartile range, 9.0-12.6; p < 0.001). Patients in Spain and Portugal had the highest median hemoglobin (11.4; interquartile range, 10.0-12.6) compared with other regions outside of the United States (p < 0.001), and the highest proportion (31.3%) of transfused patients compared with all regions (p < 0.001). Patients in cardiac PICUs had higher median hemoglobin than those in mixed PICUs or noncardiac PICUs (12.3, 11.0, and 10.6 g/dL, respectively; p < 0.001). Cyanotic heart disease patients had the highest median hemoglobin (12.6 g/dL; interquartile range, 11.1-14.5). Multivariable regression analysis within diagnosis groups revealed that hemoglobin levels were significantly associated with the geographic location and history of complex cardiac disease in most of the models. In children with cancer, none of the variables tested correlated with patients' hemoglobin levels.Patients' hemoglobin levels correlated with demographics like age, race, geographic location, and cardiac disease, but none found in cancer patients. Future investigations should account for the effects of these variables.
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The aim of the study was to assess the role of mid-regional proadrenomedullin (MR-proADM) in comparison with routine laboratory tests in patients with COVID-19.140 hospitalized patients aged 18 and older with COVID-19 pneumonia were included in prospective single-center study. Routine analyses were performed, and MR-proADM level was measured within the first and the third hospital days using Human MR pro-ADM (Mid-regional pro-adrenomedullin) ELISA Kit with a sensitivity of 0.469 pmol/L (immunofluorescence assay). National Early Warning Score (NEWS) was used for primary assessment of the disease severity. According to disease outcome the patients were divided into two groups: discharged patients (n = 110, 78.6%) and deceased patients (n = 30, 21.4%). Results: The groups had no statistically significant difference in sex, comorbidity, body temperature, oxygen saturation level, heart rate, respiratory rate, and C-reactive protein (CRP) level and procalcitonin (PCT). The deceased patients had statistically significant difference in age (median, 76 years; interquartile range, 73.2-78.2 vs. median, 66 years; interquartile range, 62-67; p < 0.0001), NEWS value (median, 5; interquartile range, 3-8 vs. median, 2; interquartile range, 0-6; p <0.05), hospitalization period (median, 17; interquartile range, 7-35 vs. median, 6; interquartile range, 3-14), quantitative CT extent of lung damage > 50% [n = 26 (86.7%) vs. n = 9 (8.2%) p < 0.0001], level of leukocytes (median, 11.4 ×109/L; interquartile range, 6.2-15.5 vs. median, 5.3 ×109/L; interquartile range, 4.7-6.4; p = 0.003), level of neutrophils (median, 80.9%; interquartile range, 73.6-88.6 vs. median, 72.6%; interquartile range, 68.7-76.9; p = 0.027), level of MR-proADM at the first hospital day (median, 828.6 pmol/L; interquartile range, 586.4-1,184.6 vs. median, 492.6 pmol/L; interquartile range, 352.9-712.2; p = 0.02), and level of MR-proADM at the third hospital day (median, 1,855.2 pmol/L; interquartile range, 1,078.4-2,596.5 vs. median, 270.7 pmol/L; interquartile range, 155.06-427.1).Mid-regional proadrenomedullin has a higher prognostic value in patients with COVID-19 in comparison with routine inflammatory markers (leukocyte and neutrophils levels, CRP, and PCT) and NEWS.
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The spacial reestruturaction of industry in the 1990’s has taken, concurrently with the New Automotive Regime, to a implantation process of automotive plants on diferents regions in Brazil. Outcome, Curitiba outstands as an important place of manufacturing and exportation of vehicles. This article discuss the reasons to the implantation of those industries and the advantages of Curitiba face to Porto Alegre and Juiz de Fora, the most important investiments destination in this decade.
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ABSTRACT In the Curitiba Landfill the post-treatment of the leachate occurs in natural wetlands. In order to evaluate the role of macrophytes in this post-treatment, it was developed a pilot system. Thus, the objective of this study was to evaluate the effectiveness of the pilot system in the post-treatment of the leachate in this landfill. The system was built with two water tanks: the macrophyte Echinochloa polystachya was placed in the first one; and the Eichhornia crassipes was placed in the second one. The system operated in batch in a seven-day cycle. For monitoring the system, samples were collected, and analyses of the leachate, the substrate, and the macrophytes were performed. The efficiency of the system in the post-treatment of the leachate was 72% for biochemical oxygen demand, 30% for chemical oxygen demand, 76% for total phosphorus and inorganic phosphorus, 38% for nitrate, 33% for nitrite, 58% for ammoniacal nitrogen, 44% for organic nitrogen, and 13% for zinc.
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