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1.
Int J Mol Sci ; 25(5)2024 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-38474159

RESUMO

PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype-phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families. A molecular diagnosis was performed using classical molecular approaches and next-generation sequencing. Common haplotypes were ascertained by analyzing single-nucleotide polymorphisms. We identified 56 variants, including 11 novel variants. Most of them were missense variants (64%) and were located in the D2-loop protein domain (77%). The most frequently occurring variants were p.Gly167Ser, p.Gly208Asp and p.Pro221_Cys222del. Haplotype analysis revealed a shared region in families carrying p.Leu41Pro or p.Pro221_Cys222del. Patients with retinitis pigmentosa presented an earlier disease onset. We describe the largest cohort of IRD families associated with PRPH2 from a single center. Most variants were located in the D2-loop domain, highlighting its importance in interacting with other proteins. Our work suggests a likely founder effect for the variants p.Leu41Pro and p.Pro221_Cys222del in our Spanish cohort. Phenotypes with a primary rod alteration presented more severe affectation. Finally, the high phenotypic variability in PRPH2 hinders the possibility of drawing genotype-phenotype correlations.


Assuntos
Distrofias Retinianas , Retinose Pigmentar , Humanos , Análise Mutacional de DNA , Mutação , Mutação de Sentido Incorreto , Fenótipo , Distrofias Retinianas/genética , Retinose Pigmentar/genética
2.
J Perinat Med ; 49(2): 229-236, 2021 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-32364515

RESUMO

BACKGROUND: Umbilical cord (UC) abnormalities are related to neurological outcome and death; specific molecular factors that might be involved are, as yet, unknown; however, protein-coding genes insulin-like growth factor 2 (IGF2) and cyclin-dependent kinase inhibitor 1C (CDKN1C) have been identified as potential candidates. METHODS: An analytical observational study was carried out. Newborn UCs were collected, along with their clinical and morphological features. Immunohistochemical analysis was made on paraffin-embedded sections and quantitative reverse transcription polymerase chain reaction (qRT-PCR) was performed in fresh UC tissue for the assessment of gene expression. RESULTS: A total of 100 newborns were included. A significant association was found between long UC and prematurity [odds ratio (OR) 9] and long UC and respiratory distress (OR 4.04). Gestational diabetes (OR 8.55) and hypertensive disorders of pregnancy (HDP) (OR 4.71) were found to be related to short UCs. The frequency for abnormal UC length was higher than expected. UC length was positively correlated with maternal, newborn and placental weight. No statistical association was found between IGF2 and CDKN1C (p57) expression and UC length; however, there was a tendency for higher CDKN1C expression in short UCs, while, on the contrary, higher IGF2 expression for long UCs. CONCLUSION: UC length was observed to be associated with maternal and newborn complications. Protein expression, messenger RNA (mRNA) activity and the activity of said genes seem to be related to UC length.


Assuntos
Inibidor de Quinase Dependente de Ciclina p57/metabolismo , Doenças do Recém-Nascido/patologia , Fator de Crescimento Insulin-Like II/metabolismo , Complicações na Gravidez/patologia , Cordão Umbilical/patologia , Adulto , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/metabolismo , Masculino , Gravidez , Complicações na Gravidez/metabolismo , Cordão Umbilical/metabolismo
3.
J Electrocardiol ; 56: 85-89, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31326859

RESUMO

Supraventricular tachycardias (SVT) are the most common arrhythmias in the perinatal period. Permanent junctional reciprocating tachycardia (PJRT) is a rare form of SVT, often incessant and refractory to pharmacological treatments. Our goal was to analyze the clinical features and treatment of PJRT in patients younger than 2 months and to describe their long-term outcomes. METHODS: Retrospective descriptive observational study of patients diagnosed between 2000 and 2015 in the NICU of a referral center for the treatment of pediatric arrhythmias. History of pregnancy, neonatal period, pharmacological treatment, electrophysiological study and long-term follow-up were reviewed. RESULTS: 129 of the 10.198 (1.26%) patients admitted to the NICU had SVT, sixteen of them (12.3%) being diagnosed as PJRT. Ten cases had a prenatal diagnosis. For those six patients postnatally diagnosed, the tachycardia was detected either during a routine check-up or because of acute hemodynamic instability. The majority of patients required combinations of drugs, despite that the tachycardia was poorly controlled. Fifteen patients underwent cardiac ablation, nine patients (60%) in the neonatal period and six during childhood. The procedure was completely effective in all cases. One patient had a transient complete AV block that resolved spontaneously 24 hours after the procedure. No other complications were seen. After a mean follow-up of 10.9 years, no patient has presented recurrence, cardiac dysfunction, signs of ischemia or EKG abnormalities, they all have a normal life. CONCLUSIONS: When PJRT is refractory to multiple drugs, cardiac ablation should be taken into account at early stages even in very young patients.


Assuntos
Ablação por Cateter , Taquicardia Reciprocante , Taquicardia Supraventricular , Criança , Eletrocardiografia , Seguimentos , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Taquicardia Reciprocante/diagnóstico , Taquicardia Reciprocante/cirurgia , Taquicardia Supraventricular/diagnóstico , Taquicardia Supraventricular/cirurgia
5.
Skin Pharmacol Physiol ; 29(1): 31-40, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26606593

RESUMO

Skin is commonly stored frozen and then thawed prior to use for in vitro permeation experiments. Does frozen storage of skin alter its barrier property? Numerous studies have found contradictory answers to this question. In this study, the steady-state flux and lag time of diethyl phthalate (DEP) were measured for fresh human skin and skin frozen at -85°C for 1, 2, 3, 6, 9, 12, and 18 months with 10% glycerol as a cryoprotective agent. No significant differences in steady-state flux were found between fresh and previously frozen samples (p = 0.6). For lag time, a significant (p = 0.002) difference was found among all groups, but comparisons with fresh skin were not significant. Does glycerol have a cryoprotective effect? The steady-state flux and lag time of DEP and caffeine were measured through human skin stored at -85°C for up to 12 months with and without 10% glycerol. No significant differences in steady-state flux or lag time were found between samples stored with or without glycerol for either DEP or caffeine (p ≥ 0.17). These findings support the use of frozen skin to measure the passive permeation of chemicals in studies unconcerned with viability and metabolism.


Assuntos
Cafeína/farmacocinética , Criopreservação , Ácidos Ftálicos/farmacocinética , Pele/metabolismo , Adulto , Crioprotetores/farmacologia , Feminino , Congelamento , Glicerol/farmacologia , Humanos , Técnicas In Vitro , Pessoa de Meia-Idade , Absorção Cutânea
6.
Ann Occup Hyg ; 58(5): 566-78, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24671613

RESUMO

A novel high-performance liquid chromatographic/ultraviolet method was developed to detect lapachol (LP) and deoxylapachol (DLP) in wood dust as chemical markers of teak wood (a suspected human carcinogen). The specificity of this analysis was determined by noting the absence of LP and DLP in 12 other specimens of different woods belonging to the angiosperm family. The consistency was examined by analyzing teak from three different sources, where the percentages (wt/wt) of the chemicals ranged from 0.006 to 0.261 for LP and from 0.038 to 0.497 for DLP, respectively. Although the LP and DLP components of teak varied according to source, a very high correlation coefficient (r (2) > 0.98 always) was found between the content of the two markers in the bulk specimens and in bulk dust derived from them. The method was then applied to teak dust collected on polyvinylchloride filters from aerosol in an exposure chamber in the range of mass loadings between 0.03 and 3.65 mg, which corresponds to a dust exposure between 0.124 and 8.703 mg m(-3) for a sampling time of 2h. A field test was also carried out in a small factory where teak was used. A good correlation was confirmed between LP and DLP versus the dust collected on the filter in both cases. LP and DLP can be markers to estimate the true quantities of teak dust inhaled in a workplace with mixed wood dust, provided the results are matched to the content of LP and DLP in the bulk wood. LP and DLP have also been proposed as the agents responsible for allergic reaction to teak dust. Therefore, it would be useful to evaluate the exposure to these two substances even without a relationship to teak dust exposure.


Assuntos
Poluentes Ocupacionais do Ar/análise , Poeira/análise , Monitoramento Ambiental/métodos , Naftoquinonas/análise , Exposição Ocupacional/análise , Madeira/química , Cromatografia Líquida de Alta Pressão/métodos , Humanos
7.
Biofactors ; 50(1): 135-144, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37584623

RESUMO

Human milk adipokines in term babies seem partially determined by maternal factors and affect infant's development. We aimed to describe bioactive peptide concentration in very preterm human milk and associations to maternal characteristics and postnatal growth. Mothers delivering ≤32 weeks of gestation and their infant/s were recruited. At 4 weeks of lactation, an aliquot of 24-h-pooled milk was collected for exclusively breastfeeding dyads. Insulin, leptin, adiponectin, and milk fat globule epidermal growth factor-8 (MFG-E8) were measured by enzyme-linked immunoabsorbent assay in skimmed milk. One hundred mothers (28.8 ± 2.3 weeks at delivery) provided a milk sample. Milk insulin was related to gestational age, pre-pregnancy body mass index (BMI), and galactagogue treatment (final model: adjusted R2 : 0.330, p < 0.0001; adjusted ß coefficients: galactagogue treatment: 0.348, p 0.001; pre-pregnancy BMI: 0.274, p 0.009; gestational age: -0.290, p 0.007). Adiponectin was higher in mothers with gestational diabetes (30.7 ± 6.5 vs. 24.8 ± 8 ng/mL, p 0.044). Leptin was associated with pre-pregnancy BMI (Spearman's ρ: 0.648, p < 0.0001) and MFG-E8 to presence of labor and multiple pregnancy (final linear regression model, R2 : 0.073, p 0.028, adjusted ß coefficients: presence of labor -0.229, p 0.050; twins: -0.192, p 0.099). Milk adiponectin was associated with a greater decrease in length z-scores from birth to 28 days (Pearson's r: -0.225, p 0.032) and to discharge (Pearson's r: -0.290, p 0.003). Milk MFG-E8 was lower in milk of mothers whose babies experienced late-onset sepsis (13.3 ± 5.8 vs. 16.8 ± 6.3 µg/mL, p 0.023). Adipokines levels in preterm human milk are partially related to maternal metabolic status. Milk peptide concentration associates with early neonatal growth trajectories.


Assuntos
Galactagogos , Leite Humano , Recém-Nascido , Feminino , Gravidez , Humanos , Lactente , Leite Humano/metabolismo , Leptina , Adiponectina/metabolismo , Insulina/metabolismo , Adipocinas/metabolismo
8.
An Pediatr (Engl Ed) ; 100(5): 333-341, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38653671

RESUMO

INTRODUCTION: Our aim was to determine which foetal or neonatal growth curves discriminate the probability of dying of newborns with low birth weight for their gestational age (small for gestational age, SGA) and sex (weight < 10th percentile) and to establish the curves that are presumably most useful for monitoring growth through age 10 years. MATERIAL AND METHODS: The analysis included every neonate (15 122) managed in our hospital (2013-2022) and all neonates born preterm before 32 weeks (6913) registered in the SEN1500 database (2019-2022). We considered most useful those curves with the highest likelihood ratio (LR) for dying with or without a history of SGA in each subgroup of gestational ages. Theoretically, the optimal curves for monitoring growth would be those with a higher R2 in the quantile regression formulas for the 50th percentile. RESULTS: The growth curves exhibiting the strongest association between SGA and hospital mortality are the Intergrowth fetal curves and the Fenton neonatal curves in infants born preterm before 32 weeks. However, the optimal curves for premature babies and neonates overall were those of Olsen and Intergrowth. The most useful curves to monitor anthropometric values alone until age 10 years of age are the longitudinal Intergrowth curves followed by the WHO standards, but if a single reference is desired from birth through age 10 years, the best option is the Fenton curves followed by the WHO standards. CONCLUSIONS: The Intergrowth reference provides the most discriminating foetal growth curves. In neonatal clinical practice, the optimal references are the Fenton followed by the WHO charts.


Assuntos
Desenvolvimento Fetal , Gráficos de Crescimento , Recém-Nascido Pequeno para a Idade Gestacional , Humanos , Recém-Nascido , Feminino , Masculino , Desenvolvimento Fetal/fisiologia , Idade Gestacional , Recém-Nascido Prematuro/crescimento & desenvolvimento , Lactente , Criança , Mortalidade Hospitalar , Recém-Nascido de Baixo Peso
9.
Res Social Adm Pharm ; 20(1): 19-27, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37704533

RESUMO

BACKGROUND: This study evaluated the cost-effectiveness of an intervention based on a training course for community pharmacists and a smoking cessation service (CESAR©), using limited societal and the health provider perspectives. METHODS: Non-randomized controlled trial of 12-months' follow-up. Spanish community pharmacists who were previously trained with CESAR© formed the intervention group (n = 102), and control group delivered usual care (n = 80). CESAR Patients were smokers identified by the community pharmacists when they attended the pharmacy. Data were self-reported. Outcomes were smoking cessation and quality-of-life (EQ-5D-3L) and were collected at baseline, 6, and 12 months. Costs data included direct health costs, work loss, and intervention costs. Smoking cessation was analyzed through logistic regression models. Generalized linear models were carried out for quality-adjusted life year (QALY) and costs. Incremental cost-effectiveness ratio (ICER) and cost-utility ratio (ICUR) were calculated. RESULTS: In total, 800 smoking patients were included in the intervention group and 278 in the control group. Of these, 487 and 151 patients completed the study, respectively. Costs were lower in the intervention group compared to the control group in both perspectives. At 12 months, 54.3% and 37.1% patients from the intervention and the control groups reported smoking cessation, respectively. The difference in probability of cessation in the intervention compared to the control group was 17.6% (CI:0.05; 0.25). The mean QALY was higher in the intervention group [0.03(CI: 0.01; 0.07)]. The ICER and the ICUR were dominant for the intervention group. CONCLUSION: This intervention for smoking cessation showed that the CESAR© intervention, that combined a training for community pharmacists with a smoking cessation service was efficient for smoking cessation and QALY at 12 months' follow-up. TRIAL REGISTRATION: NCT05461066, retrospectively registered (July 15, 2022).


Assuntos
Farmácias , Abandono do Hábito de Fumar , Humanos , Análise Custo-Benefício , Seguimentos , Farmacêuticos
10.
Front Pediatr ; 12: 1444906, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39258148

RESUMO

Introduction: Less-invasive surfactant administration (LISA) is associated with better respiratory outcomes in preterm infants with respiratory distress syndrome. However, mechanical ventilation (MV) shortly after the LISA procedure has been related to lower survival. This study aimed to analyze the trends and main predictors of continuous positive airway pressure (CPAP) failure after LISA. Material and methods: Preterm infants born between 230 and 336 weeks gestational age (GA) in two level III neonatal units who received surfactant were included (2017-2022). Demographic data, lung ultrasound (LUS) scores, the saturation/fraction of inspired oxygen (SF) ratio, technique, time to surfactant administration, and the main neonatal outcomes were collected. Results: Over the study period, 289 inborn preterm infants received surfactant, 174 with the LISA method (60.2%). Patients who received surfactant after intubation in the delivery room (n = 56) were more immature and exhibited worse outcomes. Patients who received surfactant via an endotracheal tube in the neonatal intensive care unit (n = 59) had higher LUS scores and a lower SF ratio than those treated with LISA. The LISA method was associated with less death or bronchopulmonary dysplasia (BPD), with an adjusted odds ratio (aOR) = 0.37 [95% confidence interval (CI), 0.18-0.74, p = 0.006]. CPAP failure after LISA (defined as the need for intubation and MV in the first 72 h of life) occurred in 38 patients (21.8%), inversely proportional to GA (38.7% at 23-26 weeks, 26.3% at 27-30 weeks, and 7.9% at 30-33 weeks (p < 0.001). CPAP failure after LISA was significantly related to death, with an aOR = 12.0 (95% CI, 3.0-47.8, p < 0.001), and moderate to severe BPD, with an aOR = 2.9 (95% CI, 1.1-8.0, p = 0.035), when adjusting for GA. The best predictors of CPAP failure after LISA were GA, intrauterine growth restriction, temperature at admission, the SF ratio, and the LUS score, with a Nagelkerke's R 2 = 0.458 (p < 0.001). The predictive model showed an area under the curve = 0.84 (95% CI, 0.75-0.93, p < 0.001). Conclusions: CPAP failure after LISA is still common in extremely preterm infants, leading to an increase in death or disability. Clinicians must acknowledge the main risk factors of CPAP failure to choose wisely the right patient and the best technique. LUS and the SF ratio at admission can be useful when making these decisions.

11.
J Pediatr Surg ; 58(11): 2098-2104, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37507336

RESUMO

BACKGROUND: Nutritional complications have an impact in both short- and long-term morbidity of patients with congenital diaphragmatic hernia (CDH). We aimed to compare time to full enteral tube feeding depending on route -gastric (GT) or transpyloric (TPT)- in newborns with left CDH (L-CDH). METHODS: Retrospective cohort study of L-CDH patients admitted to a referral tertiary care NICU between January 2007 and December 2014. Lethal chromosomal abnormalities and death before initiation of enteral nutrition were exclusion criteria. RESULTS: 37 patients were fed through GT, 46 by TPT. TPT children took 11.0 (6.8) days to reach full enteral tube feeding and spent 16.6 (8.1) days on parenteral nutrition vs 16.8 (14.7) days (p = 0.041) and 22.7 (13.5) days (p = 0.020) of GT patients. TPT children had 3.9 (2.4) days of fasting due to GI issues and 20% had episodes of decreased rates of enteral nutrition for extra-GI complications vs 11.4 (11.1) days (p = 0.028) and 49% (p = 0.006). According to the best fitting model (R2 0.383, p < 0.001), the TPT-group achieved full enteral feeding 8.4 days earlier than the GT-group (95% CI -14.76 to - 2.02 days), after adjustment by severity of illness during the first days, o/e LHR_liver and class of diaphragmatic defect. There were no differences in growth outcomes and length of stay between survivors of GT and TPT groups. CONCLUSION: TPT shortens time to full enteral nutrition, especially in the most severe L-CDH patients. We propose that placement of a TPT at the end of the surgical repair procedure should be considered, especially in higher-risk patients. LEVEL OF EVIDENCE: Treatment study, Level III. Retrospective comparative, case-control study.


Assuntos
Hérnias Diafragmáticas Congênitas , Criança , Humanos , Recém-Nascido , Hérnias Diafragmáticas Congênitas/cirurgia , Estudos Retrospectivos , Estudos de Casos e Controles , Nutrição Enteral/métodos , Nutrição Parenteral
12.
J Perinatol ; 43(1): 52-59, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35931800

RESUMO

OBJECTIVE: To identify changes in macronutrient content of very preterm human milk associated with perinatal factors. STUDY DESIGN: Milk macronutrients were measured on weeks 1, 2, 4 and 8 with mid-infrared transmission spectrometers. RESULT: We assessed 625 samples (from 117 mothers and 130 very preterm infants). Average concentrations were: protein 1.3 ± 0.3 g/dl, carbohydrates 7.3 ± 0.6 g/dl, fat 3.7 ± 1.0 g/dl and energy 296.0 ± 41.0 kJ/dl (70.7 kcal/dl). Gestational age negatively correlated with protein (rho: -0.307, p < 0.001) and energy (r: -0.193, p = 0.003). Advanced maternal age, gestational age and intrauterine growth restriction were independently associated with milk protein content over the first 4 weeks (adjusted R2: 0.113, p = 0.002). CONCLUSION: These findings may help neonatologists identify patients fed Mother´s Own Milk who are at increased risk of poor postnatal growth.


Assuntos
Lactente Extremamente Prematuro , Leite Humano , Lactente , Gravidez , Feminino , Recém-Nascido , Humanos , Nutrientes , Idade Gestacional , Mães , Retardo do Crescimento Fetal
13.
Farm Comunitarios ; 15(4): 26-36, 2023 Oct 16.
Artigo em Espanhol | MEDLINE | ID: mdl-39156980

RESUMO

Background: Dispensing and prescribing antibiotics is inappropriate in many of the countries in the European Union, including Spain, and a threat to the population's health. To tackle the growth of antimicrobial resistance, the Happy Patient project was set up under the sponsorship of the European Commission. Aim: O ascertain the characteristics of dispensing antibiotic therapy in Spanish community pharmacies.To compare the variability between different Spanish community pharmacies. Methods: The Audit Project Odense® methodology was used to find out how antibiotics were dispensed in community pharmacies. Pharmacists taking part were asked to record for five consecutive days between the months of February and April 2022 the actions performed during the dispensing of oral antibiotics for human use and for the treatment of acute infections. Results: A total population of 573 patients (59.9% female) of all age groups were interviewed. The patients were 83.6% aware of the purpose for which the antibiotic was prescribed and the most requested antibiotic was amoxicillin followed by amoxicillin with clavulanic acid.In 15% of dispensations, a triple safety check was completed: interactions, contraindications and allergies. The pharmacist rarely contacted the prescriber but when she did, the prescriber altered the prescription.In 62.3% of cases, information about the duration of treatment was provided and amoxicillin with and without clavulanic acid was the antibiotic dispensed for which most warnings about side effects were issued. In 24.6% of dispensations there was no advice given at all. In 81.7% the pharmacist agreed with the prescribed treatment. Conclusions: This audit can be a starting point to improve clinical practice and reduce antibiotic resistance. It highlights the need for safety checks in regard to the use of antimicrobials and suggests verifying dispensing to correct errors that may jeopardize the safety and effectiveness of antimicrobial therapy.

14.
Genes (Basel) ; 14(9)2023 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-37761804

RESUMO

Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. The severity of the neurological effects as well as the presence of other features is variable among subjects. SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. Here, we report 20 additional patients with clinical features compatible with SNIBCPS from 17 unrelated families with confirmed likely pathogenic/pathogenic variants in CHD3. Patients were analyzed by whole exome sequencing and segregation studies were performed by Sanger sequencing. Patients in this study showed different pathogenic variants affecting several functional domains of the protein. Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and speech disorder/delay (92%). Other frequent features (51-74%) include intellectual disability, hypotonia, hypertelorism, abnormality of vision, macrocephaly and prominent forehead, among others. This study expands the number of individuals with confirmed SNIBCPS due to pathogenic or likely pathogenic variants in CHD3. Furthermore, we add evidence of the importance of the application of massive parallel sequencing for NDD patients for whom the clinical diagnosis might be challenging and where deep phenotyping is extremely useful to accurately manage and follow up the patients.


Assuntos
Deficiências do Desenvolvimento , Hipertelorismo , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Megalencefalia , Humanos , DNA Helicases/genética , Histonas , Deficiência Intelectual/genética , Megalencefalia/genética , Complexo Mi-2 de Remodelação de Nucleossomo e Desacetilase/genética , Deficiências do Desenvolvimento/genética
15.
J Toxicol Environ Health A ; 75(1): 50-62, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22047163

RESUMO

Recent data, using a murine model, have indicated that dermal exposure to perfluorooctanoic acid (PFOA) induces immune modulation, suggesting that this may be an important route of PFOA exposure. To investigate the dermal penetration potential of PFOA, serum concentrations were analyzed in mice following topical application. Statistically significant and dose-responsive increases in serum PFOA concentrations were identified. In vitro dermal penetration studies also demonstrated that PFOA permeates both mouse and human skin. Investigation into the mechanisms mediating PFOA penetration demonstrated that dermal absorption was strongly dependent upon the ionization status of PFOA. In addition, PFOA solid, but not 1% PFOA/acetone solution, was identified as corrosive using a cultured epidermis in vitro model. Despite its corrosive potential, expression of inflammatory cytokines in the skin of topically exposed mice was not altered. These data suggest that PFOA is dermally absorbed and that under certain conditions the skin may be a significant route of exposure.


Assuntos
Caprilatos/toxicidade , Derme/efeitos dos fármacos , Fluorocarbonos/toxicidade , Absorção Cutânea/efeitos dos fármacos , Administração Tópica , Animais , Caprilatos/administração & dosagem , Caprilatos/metabolismo , Citocinas/metabolismo , Derme/metabolismo , Derme/patologia , Relação Dose-Resposta a Droga , Feminino , Fluorocarbonos/administração & dosagem , Fluorocarbonos/metabolismo , Humanos , Inflamação/induzido quimicamente , Inflamação/metabolismo , Inflamação/patologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C
16.
Rev Enferm ; 35(10): 16-22, 2012 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-23157066

RESUMO

OBJECTIVES: to estimate the prevalence of Burnout Syndrome and the sleep patterns alterations experienced by health workers who work in an Assisted Residence for the Elderly. MATERIAL AND METHODS: descriptive and cross-sectional research using the Maslach Burnout Inventory and the Sleepiness Epworth scales in a self questionnaire that was aimed to 150 employees at the institution. We used descriptive and inferential statistics with a 95% confidence interval. The relationship between categorical variables was carried out using the non-parametric Mann-Whitney test. RESULTS AND CONCLUSIONS: response rate of 92% (138) on the total respondents (150). The burnout prevalence rate is located at 21.7% with a high percentage of workers with low personal fulfillment (64.1%). There is also a slight tendency to suffer from daytime sleepiness in general. It is worth highlighting musculoskeletal problems as the main physiological conditions in relation to the type of work (70.3%), being coffee as the most consumed substance of those polled. High level prevalence of burnout syndrome in the population studied, especially among the nursing staff and the need to develop interventions to reduce them.


Assuntos
Moradias Assistidas , Esgotamento Profissional/epidemiologia , Dissonias/epidemiologia , Pessoal de Saúde , Instituição de Longa Permanência para Idosos , Doenças Profissionais/epidemiologia , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Síndrome , Adulto Jovem
17.
J Toxicol Environ Health A ; 74(19): 1249-60, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21830855

RESUMO

1-Bromopropane (1-BP; CAS number 106-94-5), also known as n-propyl bromide, is a halogenated short-chain alkane used as an organic solvent with numerous commercial and industrial applications, including garment dry cleaning and vapor degreasing of metals. The purpose of this study was to determine the dermal absorption characteristics and corrosivity of 1-BP. Heat-separated human epidermal membranes were mounted on static diffusion cells. Different exposure scenarios were studied (infinite dose, finite dose, and transient exposure) using neat 1-BP and saturated aqueous solution as donor. Steady-state fluxes for infinite-dose neat 1-BP exposure averaged 625 to 960 µg cm(-2) h(-1). The finite-dose (10 µl/cm(2) = 13.5 mg/cm(2)) unoccluded donor resulted in penetration of <0.2% of the applied dose (22 µg/cm(2)). A 10-min transient exposure to infinite dose resulted in total penetration of 179 µg/cm(2). Steady-state 1-BP fluxes from neat application of a commercial dry cleaning solvent were similar (441 to 722 µg cm(-2) h(-1)). The permeability coefficient of 1-BP in water vehicle was 0.257 ± 0.141 cm/h. The absorption potential of 1-BP following dermal exposure is dependent upon the type and duration of exposure. Donor losses due to evaporation were approximately 500-fold greater than dermal absorption flux; evaporation flux was 420 mg cm(-2) h(-1). 1-BP is cytotoxic but not corrosive, based on results from a cultured reconstructed human epidermal model (EpiDerm Skin Corrosivity Test).


Assuntos
Epiderme/metabolismo , Absorção Cutânea , Solventes/metabolismo , Sobrevivência Celular/efeitos dos fármacos , Epiderme/efeitos dos fármacos , Feminino , Temperatura Alta , Humanos , Hidrocarbonetos Bromados/análise , Hidrocarbonetos Bromados/química , Hidrocarbonetos Bromados/metabolismo , Hidrocarbonetos Bromados/toxicidade , Técnicas In Vitro , Resíduos Industriais , Cinética , Permeabilidade , Transição de Fase , Testes de Irritação da Pele , Solventes/análise , Solventes/química , Solventes/toxicidade , Termogravimetria , Bancos de Tecidos
18.
Rev Enferm ; 34(3): 8-12, 2011 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-21553510

RESUMO

We describe a new intravenous infusion (Intrafix SafeSet) with a number of improvements over conventional equipment designed to increase patient safety and simplify the work of nursing. Its design incorporates a special filter in the drip chamber that prevents air entry into the computer and into the bloodstream after exhaustion of fluid infusion. As a result, reduces the risk of air embolism, limiting the manipulations on the circuit and reduces the risk of contamination and infection. The presence of another filter at the distal part prevents fluid leakage during the priming process, enabling the automatic execution of it.


Assuntos
Infusões Intravenosas/instrumentação , Infusões Intravenosas/normas , Segurança , Desenho de Equipamento , Humanos
19.
J Hum Lact ; 37(1): 33-39, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33351690

RESUMO

BACKGROUND: Mother's own milk does not provide enough nutrients to feed a preterm baby born before 32 weeks' gestation; therefore, human milk fortifiers are needed. However, human milk fortifiers increase the osmolality, and enteral administration of high osmolality fluids has been associated with gastrointestinal symptoms. For this reason, it is necessary for laboratories to have a validated system in order to measure human milk osmolality. RESEARCH AIM: The aim of this study was to validate the OM-6050 Station System for measuring the osmolality of fortified mother's milk samples. METHODS: Osmolality was measured using the osmometer OM-6050 Station System. Milk samples from healthy mothers (N = 3) unfortified and with two fortifiers (Almirón Fortifier® or NAN FM85®), as well as a nutritional supplement (Duocal MCT®) were used in the validation study through precision and linearity analysis. RESULTS: In the precision study the mean intra-assay coefficient of variation was 1.2% and 1.7% for mother's milk and fortified mother's milk, respectively. The mean inter-assay coefficient of variation was ≤ 1% in both cases. In the linearity study the regression analysis had a linear response to fortified mother's milk osmolality between 294 mOsm/kg and 539 mOsm/kg. CONCLUSION: The osmometer OM-6050 Station was reliable for determining the osmolality of fortified and unfortified mother's milk. It may be useful in the clinical practices within Neonatal Intensive Care Units.


Assuntos
Leite Humano , Mães , Aleitamento Materno , Feminino , Alimentos Fortificados , Humanos , Recém-Nascido , Lactação , Concentração Osmolar , Reprodutibilidade dos Testes
20.
Pediatr Pulmonol ; 56(2): 433-441, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33369257

RESUMO

AIM: To develop and validate a feasible predictive model for early surfactant treatment in very preterm infants (VPI) admitted with respiratory distress syndrome (RDS). METHODS: Preterm infants less than 32 weeks of gestation with RDS and stabilized with noninvasive ventilation in delivery room were recruited (January 2018-April 2020). Clinical data, chest X-ray (CXR) score, respiratory support, oxygen saturation/fraction of inspired oxygen ratio (SF ratio), lung ultrasound (LUS) score, and diaphragmatic thickening fraction (DTF) were recorded at 60-120 min of life. Oxygen threshold for surfactant administration was fraction of inspired oxygen more than 30%; ultrasound findings were blinded. Logistic regression models using a stepwise selection of variables were developed in the derivation cohort. Coefficients from these models were applied to the validation cohort and a diagnostic performance was calculated. RESULTS: A total of 144 VPI with a mean gestational age of 28.7 ± 2.2 weeks were included (94 into the derivation cohort, 50 into the validation cohort); 37 required surfactant treatment (25.7%). Gestational age, SF ratio, LUS score, CXR score, and Silverman score were related to surfactant administration (R2 = .823). Predictors included in the final model for surfactant administration were SF ratio and LUS score (R2 = .783) with an area under the receiver operating characteristic (AUC) = 0.97 (95% confidence interval [CI]: 0.93-1.00) in the derivation cohort and an AUC = 0.95 (95% CI: 0.85-0.99) in the validation cohort. By applying our predictive model, 26 patients (70.2%) would have been treated with surfactant earlier than 2 h of life. CONCLUSION: The predictive model showed a high diagnostic performance and could be of value to optimize early respiratory management in VPI with RDS.


Assuntos
Surfactantes Pulmonares/uso terapêutico , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológico , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Modelos Logísticos , Pulmão/diagnóstico por imagem , Masculino , Reprodutibilidade dos Testes , Ultrassonografia
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