RESUMEN
Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. Clinical history and ophthalmologic examination of the proband were consistent with Stargardt disease. Whispered voice testing disclosed moderate hearing loss. Next-generation sequencing and Sanger sequencing identified pathogenic variants in ABCA4 (c.4926C>G and c.5044_5058del) and USH2A (c.2276G>T). All variants were present homozygously in DNA from the proband and heterozygously in DNA from the father. No variants were found in maternal DNA. Further analysis of single nucleotide polymorphisms confirmed paternal UPD of chromosome 1. This is the first known patient with confirmed UPD for two recessively mutated IRD genes. Our study expands on the genetic heterogeneity of IRDs and highlights the importance of UPD as a mechanism of autosomal recessive disease in non-consanguineous parents. Moreover, a long-term follow-up is essential for the identification of retinal features that may develop as a result of USH2A-related conditions.
RESUMEN
In the present study, the hydrochemical dynamic and the water quality of La Purísima reservoir, Central Mexico, have been determined. The reservoir presents total dissolved solids (TDSs) between 146 and 328 mg L-1 and water quality neutral to slightly alkaline (pH 7.0 to 8.7) during the dry season, whereas it becomes clearly alkaline (pH 8.1-9.9) in the rainy-warm season. Through its main tributaries, La Purísima reservoir has been receiving water affected by anthropic activities, such as mining, urbanization, and agriculture. La Purísima reservoir indicates water quality suitable for irrigation and aquatic lives, but unsuitable for drinking purposes. A geochemical evolution from the riverine to the lacustrine zone is evidenced by the complexation of several free ions: the higher saturation indexes; the lower toxic metal concentrations; and the lower trophic status, which ameliorate the water quality in the lacustrine zone. Trace elements co-precipitate and are adsorbed onto bottom sediments. During summer, high evaporation rates and atmospheric precipitation are found to decline the water quality. Cluster analyses reflect the geo-setting and different pollution levels: urban impact from the north coast, and agricultural activities from the east coast. The sensitivity of the lake to geochemical behavior can be used to understand the complex dissolved geochemical dynamics in a lake and the potential effects from long-term anthropic impact variability. The information about water quality of La Purísima reservoir may be useful to preserve the ecosystem and its biodiversity.
Asunto(s)
Lagos , Contaminantes Químicos del Agua , Ecosistema , Monitoreo del Ambiente , México , Contaminantes Químicos del Agua/análisis , Calidad del AguaRESUMEN
OBJECTIVE: To analyze the impact of different classes of lupus nephritis as risk variables for maternal and fetal adverse outcomes in a cohort of pregnant lupus patients. METHODS: This is a cohort study with retrospective and prospective data collection, conducted at the University Hospital of State University of Rio de Janeiro, Brazil, from 2011 to 2016. A total of 147 pregnancies of 137 systemic lupus erythematosus patients of whom 66 had lupus nephritis were included. Demographic and clinical features, as well as maternal and fetal outcomes were observed for each nephritis histological class among systemic lupus erythematosus patients and compared with those without nephritis. Categorical variables were expressed as absolute and relative frequencies and numerical variables as means and standard deviation. The chi-square test with Fisher's correction and Student's t-test were used for statistical analysis. A pvalue < 0.05 was considered statistically significant. RESULTS: Systemic lupus erythematosus patients with proliferative nephritis (classes III/IV, n = 54) presented more frequent disease flares ( p = 0.02), continuous active disease during pregnancy and puerperium ( p = 0.006), hospitalization due to systemic lupus erythematosus ( p < 0.001), hospitalization not directly associated to systemic lupus erythematosus ( p = 0.04), higher frequency of cesarean delivery ( p = 0.03) and preeclampsia ( p = 0.01) than patients without nephritis. Permanent damage measured by Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index was more frequent in classes III/IV than among the other patients. The frequency of adverse fetal outcomes such as prematurity and admission to neonatal intensive care unit were not different among systemic lupus erythematosus patients with or without nephritis. However, perinatal deaths were more frequent in patients with all classes of nephritis ( p = 0.003). CONCLUSION: Systemic lupus erythematosus patients with proliferative nephritis (classes III/IV) have a higher frequency of adverse maternal outcomes. This is probably due to the major impact of proliferative forms of nephritis on women's global heath, which is corroborated by the higher Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index findings, although we cannot exclude the negative influence of disease activity for the maternal adverse events. The findings indicate a need for further lupus nephritis classification beyond the nonspecific term nephritis in the context of lupus pregnancy as the impact on maternal and fetal outcomes varies according to histological class.
Asunto(s)
Nefritis Lúpica/clasificación , Nefritis Lúpica/epidemiología , Complicaciones del Embarazo/epidemiología , Resultado del Embarazo/epidemiología , Adulto , Brasil/epidemiología , Cesárea/estadística & datos numéricos , Estudios de Cohortes , Femenino , Hospitalización/estadística & datos numéricos , Hospitales Universitarios , Humanos , Recién Nacido , Recien Nacido Prematuro , Cuidado Intensivo Neonatal/estadística & datos numéricos , Muerte Perinatal , Preeclampsia/epidemiología , Embarazo , Adulto JovenRESUMEN
This study analyzed maternal and fetal outcomes of pregnancies of neuropsychiatric systemic lupus erythematosus patients followed in a reference unit. This retrospective cohort study included 26 pregnancies of patients seen between 2011 and 2015 included with history and/or active neuropsychiatric systemic lupus erythematosus among 135 pregnancies. Three patients had active neuropsychiatric systemic lupus erythematosus at conception, but only one remained with neurological activity during gestation, characteristically related to the inadvertent suspension of medications. Twenty six percent of the newborns were small for gestational age and 40% of live births were premature, with no neonatal death or early complications of prematurity. Preeclampsia was diagnosed in nine pregnancies, with two cases of early severe form that resulted in intrauterine fetal death. Patients with neuropsychiatric systemic lupus erythematosus had more prematurity and preeclampsia compared to patients without neuropsychiatric disease. However, when concomitant lupus nephritis was excluded, the gestational results of neuropsychiatric systemic lupus erythematosus patients were more favorable.
Asunto(s)
Nefritis Lúpica/epidemiología , Vasculitis por Lupus del Sistema Nervioso Central/complicaciones , Preeclampsia/epidemiología , Complicaciones del Embarazo/epidemiología , Adulto , Femenino , Humanos , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Embarazo , Complicaciones del Embarazo/clasificación , Nacimiento Prematuro/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Mortinato/epidemiología , Adulto JovenAsunto(s)
Cesárea , Política de Salud , Cobertura del Seguro , Seguro de Salud , Complicaciones del Embarazo/economía , Opinión Pública , Procedimientos Innecesarios/tendencias , Analgesia Obstétrica/estadística & datos numéricos , Brasil/epidemiología , Cesárea/economía , Cesárea/psicología , Cesárea/estadística & datos numéricos , Cesárea/tendencias , Femenino , Política de Salud/legislación & jurisprudencia , Política de Salud/tendencias , Hospitales Privados , Hospitales Públicos , Humanos , Parto , Aceptación de la Atención de Salud/psicología , Satisfacción del Paciente/estadística & datos numéricos , Transferencia de Pacientes/tendencias , Embarazo , Complicaciones del Embarazo/diagnóstico , Resultado del Embarazo , Factores Socioeconómicos , Esterilización Tubaria/estadística & datos numéricosRESUMEN
Pre-eclampsia (PE) is a major cause of maternal mortality and morbidity, perinatal deaths, preterm birth and intrauterine growth restriction. Differential diagnosis with antiphospholipid syndrome (APS) nephropathy and systemic lupus erythematosus (SLE) nephritis during pregnancy is difficult, if not sometimes impossible, as all three diseases may present hypertension and proteinuria. Improvement in diagnosis of PE has also offered new paths for differential diagnosis with other conditions and the analysis of angiogenic (vascular endothelial growth factor, placental growth factor) and antiangiogenic factors (serum soluble fms-like tyrosine kinase 1, soluble endoglin) is promising for differentiation between PE, APS nephropathy and SLE nephritis. This article reviews published studies about those factors in non-pregnant and pregnant patients with APS and SLE, comparing with patterns described in PE.
Asunto(s)
Síndrome Antifosfolípido/complicaciones , Enfermedades Renales/diagnóstico , Nefritis Lúpica/diagnóstico , Proteínas de la Membrana/sangre , Preeclampsia/diagnóstico , Factor A de Crecimiento Endotelial Vascular/sangre , Receptor 1 de Factores de Crecimiento Endotelial Vascular/sangre , Antígenos CD/sangre , Síndrome Antifosfolípido/sangre , Diagnóstico Diferencial , Endoglina , Femenino , Humanos , Enfermedades Renales/sangre , Nefritis Lúpica/sangre , Preeclampsia/sangre , Embarazo , Receptores de Superficie Celular/sangreRESUMEN
A discussion on contemporary feminism and feminist critical practice is proposed. The most significant aspects of debate on the constitution, reproduction, opposition and resistance in feminism are exposed. The most outstanding characteristics of anglo-american and french feminism are presented. Its implications for feminist practice are considered. No definitive conclusions arise. New theories and multiple explanations are suggested as constant methods to analyze an ever changing discussion.