RESUMO
OBJECTIVE: To verify the rate and predictors of 'quantity not sufficient' (QNS) among Brazilian infants younger than 3 months with positive newborn screening (NBS) for cystic fibrosis (CF). DESIGN: Prospective, population-based study. SETTING: Public Statewide Newborn Screening Programme where the incidence rate of CF is ≈1:11 000. PATIENTS: Subjects with positive two-tiered immunoreactive trypsinogen. INTERVENTIONS: Sweat induction and collection were performed in the same facility; one sweat sample was obtained per individual. MAIN OUTCOME MEASURES: The QNS rate and its predictors; analysis corresponded to the day of sweat collection. RESULTS: Among the 975 participants, QNS rates for 10 and 15 µL were 3.6% (95% CI 2.5% to 4.9%) and 8.3% (95% CI 6.6% to 10.2%). Infants weighing >3056 and >3845 g and with gestational age higher than 37 weeks had a greater likelihood (5.5 and 6.7, and 2.7 and 5.8 times more, respectively) of avoiding QNS than their peers. CONCLUSION: QNS rates fulfilled the requirements, but predictors differed from those recommended by the Cystic Fibrosis Foundations guidelines.
Assuntos
Fibrose Cística , Pilocarpina , Recém-Nascido , Lactente , Humanos , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Iontoforese , Suor/química , Estudos Prospectivos , Triagem Neonatal , Tripsinogênio , Regulador de Condutância Transmembrana em Fibrose Cística , Cloretos/análiseRESUMO
Perchlorate and chlorate are endocrine disruptors considered emerging contaminants (ECs). Both oxyanions are commonly associated with anthropogenic contamination from fertilizers, pesticides, explosives, and disinfection byproducts. However, the soils of the Atacama Desert are the most extensive natural reservoirs of perchlorate in the world, compromising drinking water sources in northern Chile. Field campaigns were carried (2014-2018) to assess the presence of these ECs in the water supply networks of twelve Chilean cities. Additionally, the occurrence of perchlorate, chlorate and other anions typically observed in drinking water matrices of the Atacama Desert (i.e., nitrate, chloride, sulfate) was evaluated using a Spearman correlation analysis to determine predictors for perchlorate and chlorate. High concentrations of perchlorate (up to 114.48 µg L-1) and chlorate (up to 9650 µg L-1) were found in three northern cities. Spatial heterogeneities were observed in the physicochemical properties and anion concentrations of the water supply network. Spearman correlation analysis indicated that nitrate, chloride, and sulfate were not useful predictors for the presence of perchlorate and chlorate in drinking water in Chile. Hence, this study highlights the need to establish systematic monitoring, regulation, and treatment for these EC of drinking water sources in northern Chilean cities for public health protection.
Assuntos
Água Potável , Poluentes Químicos da Água , Água Potável/química , Cloratos/análise , Chile , Nitratos/análise , Percloratos , Cidades , Cloretos/análise , Poluentes Químicos da Água/análiseRESUMO
Selenium is an important element in nutrition, showing great potential in the udder health of dairy goats and in the control of subclinical mastitis. However, there are few studies that evaluated the influence of selenium supplementation on subclinical mastitis in goats. The aim of this study was to evaluate the incidence of subclinical mastitis in dairy goats supplemented with organic selenium (Se yeast) in a semi-arid region. Sixteen Saanen × Toggenburg crossbred lactating goats were allocated randomly into two treatments: with and without addition of organic selenium (Se) to the concentrate. Milk samples were collected every 20 days from each udder half to determine the somatic cell count (SSC), chloride content, pH, electrical conductivity, microbiological isolation, composition, and selenium contents. The highest serum selenium concentrations in the blood of these goats occurred at 42 days of supplementation (P < 0.001). Goats which received organic selenium supplementation had higher serum selenium concentrations (P < 0.05). The milk composition variables did not differ (P > 0.05) between the tested treatments, teats, and collections. After 60 days of supplementation, a difference was observed (P < 0.05) between treatments for SSC, chloride content, and pH. Addition of organic selenium to the diet of dairy goats after 60 days of supplementation was promising in reducing the somatic cell count, consequently improving milk quality.
Assuntos
Doenças das Cabras , Mastite , Selênio , Animais , Feminino , Contagem de Células/veterinária , Cloretos/análise , Cloretos/farmacologia , Dieta/veterinária , Doenças das Cabras/microbiologia , Cabras , Lactação , Mastite/veterinária , Leite/química , Saccharomyces cerevisiae , Selênio/farmacologiaRESUMO
OBJECTIVE: To evaluate the effectiveness of treatment with elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) and to characterize its safety profile in cystic fibrosis (CF) patients in a real-world clinical setting. METHODS: This was a prospective observational study carried out in a CF referral center in Portugal involving adult CF patients who started treatment with ELX/TEZ/IVA. Clinical characteristics of the patients were collected, and effectiveness and safety data were evaluated. RESULTS: Of the 56 patients followed in the center at the time of the study, 28 were eligible for ELX/TEZ/IVA treatment in accordance with the Portuguese National Authority for Medicines and Health Products at the time of the study. Of these, 24 met the follow-up time requirement to be included in the clinical effectiveness analysis. The mean follow-up time was 167.3 ± 96.4 days. Adverse events were generally mild and self-limited. Significant improvements in lung function, BMI, sweat chloride concentration, and number of pulmonary exacerbations were observed. No significant differences in outcomes between F508del homozygous and heterozygous patients were found. The effectiveness of this new CFTR modulator combination also applied to patients with advanced lung disease. CONCLUSIONS: Treatment with ELX/TEZ/IVA showed effective improvement in real-world clinical practice, namely in lung function, BMI, sweat chloride concentration, and number of pulmonary exacerbations, with no safety concerns.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística , Adulto , Humanos , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Portugal , Cloretos/análise , Cloretos/uso terapêutico , Fibrose Cística/tratamento farmacológico , Resultado do Tratamento , MutaçãoRESUMO
Different environmental conditions can influence the effects of toxic agents on living beings. Recently, a series of experiments performed in Artemia salina submitted to different kinds of intoxication have shown that both, isotherapic and succussed watercan change Artemia salina Ìs bio resilience at different levels. Moreover, it seems to vary according to the circalunar cycle. Objective:To verify if circalunar phases and water agitation can modify the toxicity of lead chloride on Artemia salina in vitro. Methodology:Artemia salina cysts were exposed to seawater containing 0.04% of lead chloride (equal to EC10 or 10% effective concentration, previously determined in a pilot study) in 96-well culture plates. Thirty-six experimental repetitions were performed in four series to observe the possible effects of adding stirred water, the so-called succussed water, and the moon phases. The hatched cysts were recorded after 48 hours using a digital microscope (1000x magnification) to identify the hatching percentage and the viability and mobility of the born nauplii. Results:The exposition of cysts to PbCl2 led to an increase in the hatching rate, and it was more evident during the full moon (p = 0.00014) The addition of succussed water into the seawater medium reduced this effect to the baseline levels. An increase in mobility was seen in nauplii born from exposed cysts during the full moon (p = 0.00077), but this effect was not affected by the treatment with succussed water. Discussion:Although the effects of lead chloride EC10 on the increase of nauplii hatching were expected, two environmental variables changed the sensitivity of cysts to this harmful stimulus. The circalunar cycle varied the hatching rate according to the moon phase, even in laboratory conditions, and the addition of succussed water into the medium reduced the hatching rate, even with different intensities according to the moon phase. The organization of nano and microbubbles generated after the succussion of water could be related to this protective effect and can explain, at least partially the effects of high diluted preparations on this biological context. Conclusion:Environmental factors, such as the circalunar cycle and products of water agitation, can modulate the adaptative control of hatching in Artemia salina exposed to lead chloride at EC10.
Assuntos
Animais , Artemia , Cloretos/análise , EcotoxicologiaRESUMO
Agricultural and livestock activities strongly influence groundwater quality and conditioning its use as water supply in rural areas. The aim was to determine the quality and suitability of the groundwater supply used in dairy farms of an agricultural area of Pampa plain of Córdoba (Argentina). Piper's diagram showed that the groundwater types were sodium bicarbonate, sodium bicarbonate-chloride, sodium chloride-sulfate, and sodium sulfate. Physicochemical parameters revealed that cations and anions showed a high and significant correlation in water samples, indicating a strong water-rock interaction. Nitrate (NO3-) content was significantly correlated with pH, water well depth, and distance from contamination sources. A high positive correlation between arsenic (As) and bicarbonate, sulfate, sodium, and chloride (p < 0.05) indicates a similar origin. Among the pesticides monitored, 2,4-D was detected in 25% of groundwater samples (0.4 to 0.8 µg/L) coinciding with the ordinary application practices. In general, most of the groundwater samples did not comply with national and international regulations for drinking water and dairy hygiene, due to the high content of As, NO3-, bacteria, and the presence of 2,4-D herbicide. However, the quality of water was suitable for livestock drink. The data obtained in this study contribute to a better understanding of the contamination processes taking place and improve the agricultural and livestock management for an efficient use of this resource by dairy farmers.
Assuntos
Arsênio , Água Potável , Água Subterrânea , Herbicidas , Praguicidas , Poluentes Químicos da Água , Ácido 2,4-Diclorofenoxiacético , Bicarbonatos , Cloretos/análise , Água Potável/química , Monitoramento Ambiental , Fazendas , Água Subterrânea/química , Nitratos/análise , Sódio , Bicarbonato de Sódio , Cloreto de Sódio , Sulfatos/análise , Poluentes Químicos da Água/análise , Qualidade da Água , Abastecimento de ÁguaRESUMO
OBJECTIVE: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). MATERIALS AND METHODS: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 - 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA. RESULTS: The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening. CONCLUSION: In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística , Criança , Cloretos/análise , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , DNA , Humanos , Recém-Nascido , Triagem Neonatal/métodosRESUMO
Intensive groundwater use has altered the local hydrological cycle within the Bajío Guanajuatense, Mexico. To improve the knowledge of this hydrogeological system and support water management in the area, groundwater end members were identified using multivariate statistical analysis. Pumped groundwater is composed of two well-mixed end members: (a) recent recharge, affected by a reuse cycle through irrigation where nitrate and chloride evolve and reach levels of 368 mg/L and greater than 100 mg/L, respectively, and (b) deep old groundwater. Mixing estimations show that most wells extract at least 70% of deep groundwater, and some of them extract more than 94%, posing a development and groundwater sustainability conundrum in the area.
Assuntos
Deutério/análise , Monitoramento Ambiental/métodos , Água Subterrânea/análise , Isótopos de Oxigênio/análise , Abastecimento de Água/métodos , Cloretos/análise , Água Subterrânea/química , México , Nitratos/análise , Análise Espaço-Temporal , Ciclo Hidrológico , Poços de ÁguaRESUMO
Abstract Objective: Cystic fibrosis diagnosis is dependent on the chloride ion concentration in the sweat test (≥ 60 mEq/mL - recognized as the gold standard indicator for cystic fibrosis diagnosis). Moreover, the salivary glands express the CFTR protein in the same manner as sweat glands. Given this context, the objective was to verify the correlation of saliva chloride concentration and sweat chloride concentration, and between saliva sodium concentration and sweat sodium concentration, in patients with cystic fibrosis and healthy control subjects, as a tool for cystic fibrosis diagnosis. Methods: There were 160 subjects enrolled: 57/160 (35.70%) patients with cystic fibrosis and two known CFTR mutations and 103/160 (64.40%) healthy controls subjects. Saliva ion concentration was analyzed by ABL 835 Radiometer® equipment and, sweat chloride concentration and sweat sodium concentration, respectively, by manual titration using the mercurimetric procedure of Schales & Schales and flame photometry. Statistical analysis was performed by the chi-squared test, the Mann -Whitney test, and Spearman's correlation. Alpha = 0.05. Results: Patients with cystic fibrosis showed higher values of sweat chloride concentration, sweat sodium concentration, saliva chloride concentration, and saliva sodium concentration than healthy controls subjects (p-value < 0.001). The correlation between saliva chloride concentration and sweat chloride concentration showed a positive Spearman's Rho (correlation coefficient) = 0.475 (95% CI = 0.346 to 0.587). Also, the correlation between saliva sodium concentration and sweat sodium concentration showed a positive Spearman's Rho = 0.306 (95% CI = 0.158 to 0.440). Conclusions: Saliva chloride concentration and saliva sodium concentration are candidates to be used in cystic fibrosis diagnosis, mainly in cases where it is difficult to achieve the correct sweat amount, and/or CFTR mutation screening is difficult, and/or reference methods for sweat test are unavailable to implement or are not easily accessible by the general population.
Resumo Objetivo: O diagnóstico da fibrose cística depende do valor da concentração de íons de cloreto no teste do suor (≥ 60 mEq/mL - reconhecido como o indicador-padrão para o diagnóstico da doença). Além disso, as glândulas salivares expressam a proteína RTFC igualmente às glândulas sudoríparas. Nesse contexto, nosso objetivo foi verificar a correlação da concentração de cloreto na saliva e a concentração de cloreto no suor e entre a concentração de sódio na saliva e a concentração de sódio no suor em pacientes com fibrose cística e indivíduos controles saudáveis, como uma ferramenta para diagnóstico de fibrose cística. Métodos: Contamos com a participação de 160 indivíduos [57/160 (35,70%) com fibrose cística e duas mutações no gene RTFC conhecidas e 103/160 (64,40%) indivíduos controles saudáveis]. A concentração de íons na saliva foi analisada pelo equipamento ABL 835 da Radiometer® e a concentração de cloreto no suor e sódio no suor, respectivamente, por titulação manual utilizando o método mercurimétrico de Schales & Schales e fotometria de chama. A análise estatística foi realizada pelo teste qui-quadrado, pelo teste de Mann-Whitney e pela correlação de Spearman. Alpha = 0,05. Resultados: Os pacientes com fibrose cística apresentaram maiores valores na concentração de cloreto no suor, concentração de sódio no suor, concentração de cloreto na saliva e concentração de sódio na saliva do que os indivíduos-controle saudáveis (valor de p < 0,001). A correlação entre as concentrações de cloreto na saliva e cloreto no suor mostrou Rho de Spearman (coeficiente de correlação) positivo = 0,475 (IC de 95% = 0,346 a 0,587). Além disso, a correlação entre concentração de sódio na saliva e concentração de sódio no suor mostrou Rho de Spearman positivo = 0,306 (IC de 95% = 0,158 a 0,440). Conclusões: A concentração de cloreto na saliva e a concentração de sódio na saliva são candidatas a ser usadas como diagnóstico de fibrose cística, principalmente em casos em que é difícil atingir a quantidade correta de suor, e/ou o exame da mutação RTFC é difícil e/ou o método de referência para o teste do suor não se encontra disponível ou não é de fácil acesso ao público em geral.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Saliva/química , Sódio/química , Suor/química , Cloretos/análise , Regulador de Condutância Transmembrana em Fibrose Cística/análise , Fibrose Cística/diagnóstico , Sódio/metabolismo , Biomarcadores/análise , Estudos de Casos e Controles , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , GenótipoRESUMO
OBJECTIVE: Cystic fibrosis diagnosis is dependent on the chloride ion concentration in the sweat test (≥60mEq/mL - recognized as the gold standard indicator for cystic fibrosis diagnosis). Moreover, the salivary glands express the CFTR protein in the same manner as sweat glands. Given this context, the objective was to verify the correlation of saliva chloride concentration and sweat chloride concentration, and between saliva sodium concentration and sweat sodium concentration, in patients with cystic fibrosis and healthy control subjects, as a tool for cystic fibrosis diagnosis. METHODS: There were 160 subjects enrolled: 57/160 (35.70%) patients with cystic fibrosis and two known CFTR mutations and 103/160 (64.40%) healthy controls subjects. Saliva ion concentration was analyzed by ABL 835 Radiometer® equipment and, sweat chloride concentration and sweat sodium concentration, respectively, by manual titration using the mercurimetric procedure of Schales & Schales and flame photometry. Statistical analysis was performed by the chi-squared test, the Mann-Whitney test, and Spearman's correlation. Alpha=0.05. RESULTS: Patients with cystic fibrosis showed higher values of sweat chloride concentration, sweat sodium concentration, saliva chloride concentration, and saliva sodium concentration than healthy controls subjects (p-value<0.001). The correlation between saliva chloride concentration and sweat chloride concentration showed a positive Spearman's Rho (correlation coefficient)=0.475 (95% CI=0.346 to 0.587). Also, the correlation between saliva sodium concentration and sweat sodium concentration showed a positive Spearman's Rho=0.306 (95% CI=0.158 to 0.440). CONCLUSIONS: Saliva chloride concentration and saliva sodium concentration are candidates to be used in cystic fibrosis diagnosis, mainly in cases where it is difficult to achieve the correct sweat amount, and/or CFTR mutation screening is difficult, and/or reference methods for sweat test are unavailable to implement or are not easily accessible by the general population.