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1.
Am J Med Genet A ; 191(3): 711-717, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36461157

RESUMEN

Natural history studies of pediatric rare neurometabolic diseases are important to understand disease pathophysiology and to inform clinical trial outcome measures. Some data collections require sedation given participants' age and neurocognitive impairment. To evaluate the safety of sedation for research procedures, we reviewed medical records between April 2017 and October 2019 from a natural history study for CLN3 (NCT03307304) and one for GM1 gangliosidosis (NCT00029965). Twenty-two CLN3 individuals underwent 28 anesthetic events (age median 11.0, IQR 8.4-15.3 years). Fifteen GM1 individuals had 19 anesthetic events (9.8, 7.1-14.7). All participants had the American Society of Anesthesiology classification of II (8/47) or III (39/47). Mean sedation durations were 186 (SD = 54; CLN3) and 291 (SD = 33; GM1) min. Individuals with GM1 (6/19, 31%) were more frequently prospectively intubated for sedation (CLN3 3/28, 11%). Minor adverse events associated with sedation occurred in 8/28 (28%, CLN3) and 6/19 (32%, GM1) individuals, frequencies within previously reported ranges. No major adverse clinical outcomes occurred in 47 anesthetic events in pediatric participants with either CLN3 or GM1 gangliosidosis undergoing research procedures. Sedation of pediatric individuals with rare neurometabolic diseases for research procedures is safe and allows for the collection of data integral to furthering their understanding and treatment.


Asunto(s)
Anestesia , Anestesiología , Gangliosidosis GM1 , Adolescente , Niño , Humanos , beta-Galactosidasa , Gangliósido G(M1) , Gangliosidosis GM1/genética , Lisosomas , Glicoproteínas de Membrana/genética , Chaperonas Moleculares/genética , Enfermedades Raras , Estudios Retrospectivos
2.
Ann Behav Med ; 57(10): 836-845, 2023 09 13.
Artículo en Inglés | MEDLINE | ID: mdl-37061829

RESUMEN

OBJECTIVE: Postpartum weight retention is associated with adverse health among both civilian and military women. PURPOSE: The current study evaluated a stepped-care weight management intervention, Moms Fit 2 Fight, adapted for use in a pregnant and postpartum military population. METHODS: Active duty women and other TRICARE beneficiaries (N = 430) were randomized to one of three conditions: gestational weight gain only (GWG-only) intervention (n =144), postpartum weight loss only (PPWL-only) intervention (n =142), or a combined GWG + PPWL intervention (n = 144). Those participants who received the PPWL intervention (i.e., the PPWL-only and GWG+PPWL conditions) were combined consistently with the pre-registered protocol and compared to those participants who did not receive the PPWL intervention in the primary analyses. Primary outcome data (i.e., postpartum weight retention) were obtained at 6-months postpartum by unblinded data collectors, and intent-to-treat analyses were conducted. RESULTS: Retention at 6-months postpartum was 88.4%. Participants who received the PPWL intervention retained marginally less weight (1.31 kg) compared to participants that received the GWG-only intervention (2.39 kg), with a difference of 1.08 kg (p = .07). None of the measured covariates, including breastfeeding status, were significantly associated with postpartum weight retention. Of the participants who received the PPWL intervention, 48.1% participants returned to their pre-pregnancy weight at 6-months postpartum, with no significant differences compared to those who received the GWG-only intervention. CONCLUSIONS: A behavioral intervention targeting diet and physical activity during the postpartum period had a trend for reduced postpartum weight retention. CLINICAL TRIAL INFORMATION: The trial is registered on clinicaltrials.gov (NCT03057808).


Since postpartum weight retention is associated with negative health outcomes among women in the military and women in the general population, the Moms Fit 2 Fight study evaluated a stepped-care weight management intervention among active duty women and other military health insurance beneficiaries. Participants (N = 430) were recruited in their first trimester of pregnancy and randomized to one of three conditions: pregnancy weight gain-only intervention, postpartum weight loss (PPWL)-only intervention, or a combined pregnancy weight gain and PPWL intervention. Participants who received the PPWL intervention (i.e., the participants who received the PPWL-only intervention or the combined intervention) were compared to the participants who did not receive the PPWL intervention, based on weight retention at 6-months postpartum. Participants who received the PPWL intervention retained marginally less weight compared to participants that did not receive the PPWL intervention. Thus, this behavioral intervention targeting diet and physical activity during the postpartum period had a trend for reducing postpartum weight retention, which may be beneficial for achieving military fitness standards and avoiding escalating obesity over multiple pregnancies.


Asunto(s)
Ganancia de Peso Gestacional , Personal Militar , Complicaciones del Embarazo , Embarazo , Femenino , Humanos , Obesidad/epidemiología , Estilo de Vida , Periodo Posparto , Pérdida de Peso , Sobrepeso , Índice de Masa Corporal
3.
Pacing Clin Electrophysiol ; 46(7): 598-606, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37310031

RESUMEN

BACKGROUND AND OBJECTIVES: The common practice after atrial fibrillation ablation is to admit patients for an overnight stay. The aim of this study was to compare a strategy of vascular suture mediated closure system utilization and early discharge (strategy A) compared to traditional closure and overnight hospitalization (strategy B) regarding feasibility, safety, quality of life and health care cost effectiveness. METHODS AND RESULTS: Hundred patients were randomized to compare both strategies. No clinical differences were reported except diabetes mellitus. Six patients (6%) had and emergency visit or were admitted in the first 30 days after procedure. Three occurred in strategy A versus three in strategy B (p = 1) (p < .005 for non-inferiority). Forty out of 50 patients (80%) were safely discharged in a time frame of 3 h and 42 patients (84%) were discharged in the same day of the procedure in strategy A. Time to discharge was shorter in strategy A compared to strategy B. (5.89 ± 7.47 h vs. 27.09 ± 2.29 p < .005). No differences were obtained in quality-of-life outcomes. Mean (95% CI) euros cost saving per patient in strategy A was 379.16 ± 93.55 p < .001. Ten acute complications (10% patients CI 95% 4.02%-15.98%) were reported during the trial. Seven (14% CI 95% 4.04%-23.96%) occurred in strategy A patients versus 3 (6% CI 95% 0.8%-12.8%) in strategy B. (p = .182) CONCLUSION: A strategy of vascular suture mediated closure system utilization and early discharge was feasible, reduced time to discharge, saved costs and was not associated with more complications or admissions/emergency visits in a 30-day time frame after procedure compared to a strategy of regular admission and discharge after overnight stay. There were no differences regarding quality-of-life parameters between both strategies.


Asunto(s)
Fibrilación Atrial , Ablación por Catéter , Humanos , Fibrilación Atrial/cirugía , Fibrilación Atrial/etiología , Alta del Paciente , Calidad de Vida , Hospitalización , Punciones , Resultado del Tratamiento
4.
BMC Vet Res ; 19(1): 113, 2023 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-37553700

RESUMEN

BACKGROUND: Feline species undergo reproductive seasonality; thus, sperm characteristics, such as DNA integrity, can be affected by the photoperiod. This study was conducted to determine the effect of seasonal changes on sperm quality and on the dynamics of sperm DNA fragmentation. Epididymal spermatozoa were collected from 36 tomcats subjected to bilateral orchiectomy during breeding (BS) and non-breeding (NBS) seasons. Sperm samples were obtained by cutting the cauda epididymis and assessed for sperm motility, concentration, acrosome integrity, plasma membrane integrity and sperm morphology. Sperm DNA fragmentation was evaluated by the sperm chromatin dispersion test after 0, 6, and 24 h of incubation at 37 °C. RESULTS: The total sperm motility and plasma membrane integrity values were greater during the BS, while the percentages of abnormal sperm and head defects were lesser (p < 0.05). No significant differences in DNA fragmentation were found between seasons after sperm collection. DNA damage was greater after 24 h of incubation at 37 °C in both seasons, although the percentage of spermatozoa with fragmented DNA was significantly lesser in the BS than in the NBS at 24 h (p < 0.05). CONCLUSIONS: The study suggests seasonal changes in some of the quality parameters of cat sperm. DNA fragmentation dynamics were affected by the time of incubation and reproductive season; therefore, this technique might be used as an additional tool to test the potential fertility of semen samples used in feline-assisted reproduction.


Asunto(s)
Preservación de Semen , Semen , Masculino , Gatos , Animales , Estaciones del Año , Motilidad Espermática , Fragmentación del ADN , Análisis de Semen/veterinaria , Espermatozoides , ADN , Preservación de Semen/veterinaria
5.
Cell Mol Life Sci ; 79(8): 459, 2022 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-35913515

RESUMEN

Differentiation of smooth muscle cells (SMCs) depends on serum response factor (SRF) and its co-activator myocardin (MYOCD). The role of MYOCD for the SMC program of gene transcription is well established. In contrast, the role of MYOCD in control of SMC-specific alternative exon usage, including exon splicing, has not been explored. In the current work we identified four splicing factors (MBNL1, RBPMS, RBPMS2, and RBFOX2) that correlate with MYOCD across human SMC tissues. Forced expression of MYOCD family members in human coronary artery SMCs in vitro upregulated expression of these splicing factors. For global profiling of transcript diversity, we performed RNA-sequencing after MYOCD transduction. We analyzed alternative transcripts with three different methods. Exon-based analysis identified 1637 features with differential exon usage. For example, usage of 3´ exons in MYLK that encode telokin increased relative to 5´ exons, as did the 17 kDa telokin to 130 kDa MYLK protein ratio. Dedicated event-based analysis identified 239 MYOCD-driven splicing events. Events involving MBNL1, MCAM, and ACTN1 were among the most prominent, and this was confirmed using variant-specific PCR analyses. In support of a role for RBPMS and RBFOX2 in MYOCD-driven splicing we found enrichment of their binding motifs around differentially spliced exons. Moreover, knockdown of either RBPMS or RBFOX2 antagonized splicing events stimulated by MYOCD, including those involving ACTN1, VCL, and MBNL1. Supporting an in vivo role of MYOCD-SRF-driven splicing, we demonstrate altered Rbpms expression and splicing in inducible and SMC-specific Srf knockout mice. We conclude that MYOCD-SRF, in part via RBPMS and RBFOX2, induce a program of differential exon usage and alternative splicing as part of the broader program of SMC differentiation.


Asunto(s)
Empalme Alternativo , Miocitos del Músculo Liso , Empalme Alternativo/genética , Animales , Diferenciación Celular/genética , Exones/genética , Humanos , Ratones , Miocitos del Músculo Liso/metabolismo , Proteínas Nucleares , Factores de Empalme de ARN/genética , Factores de Empalme de ARN/metabolismo , Proteínas Represoras/metabolismo , Transactivadores
6.
Environ Monit Assess ; 195(8): 1004, 2023 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-37500928

RESUMEN

The formation of natural lakes is a process that takes place over thousands of years, although the volumetric formation depends on hydrological and climatological phenomena, reaching a stationary hydraulic regime, the evolution of hydrochemistry is more complex and obeys not only phenomena of stoichiometry and chemical kinetics but also diffusion processes. Depending on the depth of the lakes, the anoxization process originating from the bottom is the first phase of the lake's methanogenesis. For this, the course of many thousands of years is necessary, so the studies carried out in the lakes are limited to the current knowledge of the state in which they are, without being able to have real information in this process of methanogenesis. There are no data available on the generation process of a natural lake in its primary stages. In this case, taking advantage of the rehabilitation of the old open-pit mining of Meirama (Northwest Spain), consisting of the controlled flooding of the hole by groundwater, by stopping the perimeter pumping, and the derivation of the nearby streams, whose contribution was the majority with respect to the subterranean contribution, there has been the opportunity to physically and chemically monitor the complete filling of the said hole. The present study focuses on the analysis of the evolution of the different processes initiated in the methanogenesis of the lake bottom identified in the well-known Redox ladder: obtaining oxygen from the reduction of nitrogenous compounds and metallic oxides, from the reduction of the sulfate and the generation of methane from carbon compounds, the latter phase without reaching. Although the methanization process is very slow, it has had the opportunity to know the formation of a lake at its origin, from the hydrochemical point of view. It has been possible to verify that the methanization processes at the bottom, given the anoxia conditions, are in a very primitive phase with the reduction of nitrate and nitrite to ammonium and beginning a reduction of metal oxides and sulfate.


Asunto(s)
Monitoreo del Ambiente , Lagos , Lagos/química , Ríos , Óxidos , Sulfatos/química
7.
Immunogenetics ; 74(6): 559-581, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35761101

RESUMEN

The genetics of allorecognition has been studied extensively in inbred lines of Hydractinia symbiolongicarpus, in which genetic control is attributed mainly to the highly polymorphic loci allorecognition 1 (Alr1) and allorecognition 2 (Alr2), located within the Allorecognition Complex (ARC). While allelic variation at Alr1 and Alr2 can predict the phenotypes in inbred lines, these two loci do not entirely predict the allorecognition phenotypes in wild-type colonies and their progeny, suggesting the presence of additional uncharacterized genes that are involved in the regulation of allorecognition in this species. Comparative genomics analyses were used to identify coding sequence differences from assembled chromosomal intervals of the ARC and from genomic scaffold sequences between two incompatible H. symbiolongicarpus siblings from a backcross population. New immunoglobulin superfamily (Igsf) genes are reported for the ARC, where five of these genes are closely related to the Alr1 and Alr2 genes, suggesting the presence of multiple Alr-like genes within this complex. Complementary DNA sequence evidence revealed that the allelic polymorphism of eight Igsf genes is associated with allorecognition phenotypes in a backcross population of H. symbiolongicarpus, yet that association was not found between parental colonies and their offspring. Alternative splicing was found as a mechanism that contributes to the variability of these genes by changing putative activating receptors to inhibitory receptors or generating secreted isoforms of allorecognition proteins. Our findings demonstrate that allorecognition in H. symbiolongicarpus is a multigenic phenomenon controlled by genetic variation in at least eight genes in the ARC complex.


Asunto(s)
Hidrozoos , Animales , Hidrozoos/genética , Alelos , Proteínas , Fenotipo , Polimorfismo Genético
8.
Rev Argent Microbiol ; 54(3): 203-208, 2022.
Artículo en Español | MEDLINE | ID: mdl-33838969

RESUMEN

Trichophyton benhamiae is a zoonotic dermatophyte that can cause tinea corporis, tinea faciei and tinea capitis, producing inflammatory lesions, especially in children. In this publication, we describe 7clinical cases of pediatric patients that occurred in our institution between July 2019 and January 2020. All patients underwent a conventional mycological study. The identification of fungi isolates was confirmed by MALDI-TOF MS and sequencing of the ribosomal DNA. T. benhamiae was identified as the etiological agent, whose epidemiological link in all cases was the contact with Guinea pigs. This is the first description of infections caused by T. benhamiae in Argentina. This dermatophyte can be misidentified as other more frequent dermatophytes when performing conventional studies. Molecular technology should be used to reach a definitive diagnosis. It is important to have epidemiological data from patients such as contact with non-traditional pets, especially Guinea pigs, for an adequate presumptive diagnosis of this dermatophytosis.


Asunto(s)
Arthrodermataceae , Tiña , Animales , Argentina/epidemiología , Arthrodermataceae/genética , ADN Ribosómico , Cobayas , Tiña/diagnóstico , Tiña/epidemiología , Tiña/veterinaria , Trichophyton/genética
9.
Pediatr Dermatol ; 37(1): 159-161, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31630427

RESUMEN

Congenital candidiasis infection often presents as a skin rash with variable involvement of nails and mucous membranes. Isolated nail involvement is rare, may present late, and can often be managed with topical antifungal medication. We report a case of congenital candidiasis limited to the fingernails that resolved completely within 3 months with topical treatment.


Asunto(s)
Candidiasis Cutánea/congénito , Dermatosis de la Mano/microbiología , Uñas Malformadas/congénito , Onicomicosis/microbiología , Administración Tópica , Antifúngicos/administración & dosificación , Candidiasis Cutánea/tratamiento farmacológico , Candidiasis Cutánea/microbiología , Clotrimazol/administración & dosificación , Femenino , Dermatosis de la Mano/congénito , Dermatosis de la Mano/tratamiento farmacológico , Humanos , Recién Nacido , Enfermedades del Recién Nacido/tratamiento farmacológico , Uñas Malformadas/tratamiento farmacológico , Onicomicosis/congénito , Onicomicosis/tratamiento farmacológico
10.
BMC Genomics ; 19(Suppl 8): 859, 2018 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-30537922

RESUMEN

BACKGROUND: Latin America harbors some of the most biodiverse countries in the world, including Colombia. Despite the increasing use of cutting-edge technologies in genomics and bioinformatics in several biological science fields around the world, the region has fallen behind in the inclusion of these approaches in biodiversity studies. In this study, we used data mining methods to search in four main public databases of genetic sequences such as: NCBI Nucleotide and BioProject, Pathosystems Resource Integration Center, and Barcode of Life Data Systems databases. We aimed to determine how much of the Colombian biodiversity is contained in genetic data stored in these public databases and how much of this information has been generated by national institutions. Additionally, we compared this data for Colombia with other countries of high biodiversity in Latin America, such as Brazil, Argentina, Costa Rica, Mexico, and Peru. RESULTS: In Nucleotide, we found that 66.84% of total records for Colombia have been published at the national level, and this data represents less than 5% of the total number of species reported for the country. In BioProject, 70.46% of records were generated by national institutions and the great majority of them is represented by microorganisms. In BOLD Systems, 26% of records have been submitted by national institutions, representing 258 species for Colombia. This number of species reported for Colombia span approximately 0.46% of the total biodiversity reported for the country (56,343 species). Finally, in PATRIC database, 13.25% of the reported sequences were contributed by national institutions. Colombia has a better biodiversity representation in public databases in comparison to other Latin American countries, like Costa Rica and Peru. Mexico and Argentina have the highest representation of species at the national level, despite Brazil and Colombia, which actually hold the first and second places in biodiversity worldwide. CONCLUSIONS: Our findings show gaps in the representation of the Colombian biodiversity at the molecular and genetic levels in widely consulted public databases. National funding for high-throughput molecular research, NGS technologies costs, and access to genetic resources are limiting factors. This fact should be taken as an opportunity to foster the development of collaborative projects between research groups in the Latin American region to study the vast biodiversity of these countries using 'omics' technologies.


Asunto(s)
Bacterias/genética , Macrodatos , Biodiversidad , Genómica , Plantas/genética , Animales , Secuencia de Bases , Colombia , Metagenoma
11.
Environ Monit Assess ; 190(9): 526, 2018 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-30116906

RESUMEN

The old lignite mines of As Pontes and Meirama are located in the northwest of Spain, an approximate distance of 80 km between them. Both ended their extractive activity at the end of 2007; the respective mining pits began to be filled at the beginning of 2008. The filling process, enabled by the deviation of nearby rivers, differed between the two cases, taking approximately 4 and a half years to completely fill the 547-hm3 hole at As Pontes and 8 years and 2 months to fill the 146-hm3 hole at Meirama. In both lakes, a steady-state hydrological regime has been established, in which the volume of water in the filled holes remains constant.Despite the difference in filling time, very similar hydrochemical behavior would be expected for both water masses, as the geological, climatological, and agroforestry environment is similar at both sites and the maximum depth reached by the water is also the same for both (205 m).Thus, once the filling of both holes was completed, a comparative hydrochemical study was carried out on the state of the waters of both lakes, analyzing the hydrochemical profiles of the most representative elements and compounds of the system, as well as the chemical stratification generated. In this study, the hydrochemical results are shown. The early completion of filling in As Pontes with respect to Meirama provides significant information to know the future behavior of Meirama due to the similarity that both mine open pit present.


Asunto(s)
Monitoreo del Ambiente/métodos , Minería , Contaminantes Químicos del Agua/análisis , Carbón Mineral/análisis , Hidrología , Lagos/química , Puente , Ríos/química , España
13.
Rev Med Chil ; 145(3): 299-308, 2017 Mar.
Artículo en Español | MEDLINE | ID: mdl-28548186

RESUMEN

BACKGROUND: College students are in a critical stage in their life style due to the transition between high school and university and they may be prone to develop cardiovascular diseases. AIM: To compare the prevalence of cardiovascular risk factors (CVRF) in students from first and third year at the University of La Frontera, Temuco-Chile, according to faculty, gender and socioeconomic status (SES). MATERIAL AND METHODS: Cross-sectional study. Anthropometry, blood pressure, lipid profile, blood glucose, insulin resistance (IR), sedentary lifestyle, tobacco and alcohol consumption were evaluated during 2014 in randomly selected 163 freshmen aged 19.2 ± 1.8 years and 163 third year students aged 21.7 ± 2.5 years (49% females), stratified by faculty, career and gender. RESULTS: 32.4% of students had prehypertension, 30.6% abdominal obesity, 26.3% insulin resistance, 25.7% dyslipidemia and 8.9% metabolic syndrome. Third grade students had higher prevalence of elevated total and LDL cholesterol and higher alcohol consumption, especially among students of middle and high socioeconomic level. Compared with students from the School of Medicine, students from the Education Faculty had 3.9, 3.3 and 2.7 times greater likelihood of being obese, having elevated LDLcholesterol and being smokers, respectively. Women had the highest prevalence of sedentary lifestyles and dyslipidemia. Men had the highest prevalence of prehypertension and smoking. CONCLUSIONS: Educational programs are required to promote healthy lifestyles among these students.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Estudiantes/estadística & datos numéricos , Chile/epidemiología , Estudios Transversales , Femenino , Humanos , Masculino , Prevalencia , Factores de Riesgo , Clase Social , Universidades , Adulto Joven
14.
Nat Genet ; 39(3): 329-37, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17277778

RESUMEN

Autoimmune diseases are thought to result from imbalances in normal immune physiology and regulation. Here, we show that autoimmune disease susceptibility and resistance alleles on mouse chromosome 3 (Idd3) correlate with differential expression of the key immunoregulatory cytokine interleukin-2 (IL-2). In order to test directly that an approximately twofold reduction in IL-2 underpins the Idd3-linked destabilization of immune homeostasis, we show that engineered haplodeficiency of Il2 gene expression not only reduces T cell IL-2 production by twofold but also mimics the autoimmune dysregulatory effects of the naturally occurring susceptibility alleles of Il2. Reduced IL-2 production achieved by either genetic mechanism correlates with reduced function of CD4(+) CD25(+) regulatory T cells, which are critical for maintaining immune homeostasis.


Asunto(s)
Autoinmunidad/genética , Diabetes Mellitus Tipo 1/inmunología , Interleucina-2/genética , Linfocitos T Reguladores/inmunología , Alelos , Animales , Autoinmunidad/inmunología , Linfocitos T CD4-Positivos/inmunología , Linfocitos T CD4-Positivos/metabolismo , Linfocitos T CD8-positivos/inmunología , Linfocitos T CD8-positivos/metabolismo , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/metabolismo , Homeostasis/inmunología , Interleucina-2/biosíntesis , Interleucina-2/inmunología , Ratones , Ratones Congénicos , Ratones Endogámicos NOD , Linfocitos T Reguladores/metabolismo , Transcripción Genética
15.
Membranes (Basel) ; 14(6)2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38921493

RESUMEN

Membrane bioreactors (MBRs) have gained attraction in municipal wastewater treatment because of their capacity to meet strict water quality standards and support water reuse. Despite this, their operational sustainability is often compromised by high resource consumption, especially regarding the use of chemicals for membrane cleaning. This study explores innovative membrane-cleaning strategies to enhance the sustainability of MBR processes. Through long-term pilot trials at Stockholm's largest wastewater treatment plant, this study showed that alternative cleaning strategies can reduce chemical use by up to 75% without sacrificing treatment performance. The results further suggest that these alternative strategies could result in cost reductions of up to 70% and a reduction in environmental impacts by as much as 95% for certain indicators. Given that MBRs play a crucial role in addressing increasing treatment demands and advancing circular water management, the outcomes of this study are beneficial for the broader adoption of MBR processes. These results also have implications for existing installations, offering a pathway to more sustainable wastewater treatment. Moreover, the presented cleaning strategies provide significant opportunities for lowering operational costs and reducing the environmental footprint of new and existing MBR installations.

16.
Orphanet J Rare Dis ; 19(1): 231, 2024 Jun 11.
Artículo en Inglés | MEDLINE | ID: mdl-38863022

RESUMEN

BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, often with non-specific symptoms leading to delayed and misdiagnosis. Dysphagia, commonly recognized as a clinical morbidity in NPC1, raises concerns for swallowing safety and aspiration risk. This study aims to characterize swallowing function in AO NPC1, addressing the gap in understanding and clinical management. METHODS: Fourteen AO NPC1 individuals in a prospective natural history study (NCT00344331) underwent comprehensive assessments, including history and physical examinations utilizing the NPC1 severity rating scale, videofluoroscopic swallowing studies with summary interpretive analysis, and cerebrospinal fluid (CSF) collection for biomarker evaluation at baseline visit. Descriptive statistics and multivariate statistical modeling were employed to analyze NPC1 disease covariates, along with the American Speech-Language-Hearing Association National Outcome Measure (ASHA-NOMS) and the NIH Penetration Aspiration Scale (NIH-PAS). RESULTS: Our cohort, comprised of 14 predominately female (n = 11, 78.6%) individuals, had an average age of 43.1 ± 16.7 years at the initial visit. Overall, our AO patients were able to swallow independently with no/minimal cueing, with 6 (43%) avoiding specific food items or requiring more time. Upon risk analysis of aspiration, the cohort demonstrated no obvious aspiration risk or laryngeal aspiration in 8 (57%), minimal risk with intermittent laryngeal penetration and retrograde excursion in 5(36%), and moderate risk (7%) in only one. Dietary modifications were recommended in 7 (50%), particularly for liquid viscosities (n = 6, 43%) rather than solids (n = 3, 21%). No significant correlations were identified between swallowing outcomes and NPC1-related parameters or CSF biomarkers. CONCLUSION: Despite the heterogeneity in NPC1 presentation, the AO cohort displayed functional swallowing abilities with low aspiration risk with some participants still requiring some level of dietary modifications. This study emphasizes the importance of regular swallowing evaluations and management in AO NPC1 to address potential morbidities associated with dysphagia such as aspiration. These findings provide clinical recommendations for the assessment and management of the AO cohort, contributing to improved care for these individuals.


Asunto(s)
Trastornos de Deglución , Deglución , Enfermedad de Niemann-Pick Tipo C , Humanos , Enfermedad de Niemann-Pick Tipo C/diagnóstico , Enfermedad de Niemann-Pick Tipo C/fisiopatología , Femenino , Adulto , Masculino , Deglución/fisiología , Trastornos de Deglución/fisiopatología , Persona de Mediana Edad , Estudios Prospectivos , Adulto Joven
17.
JAMA Psychiatry ; 81(6): 545-554, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38381417

RESUMEN

Importance: Current interventions for posttraumatic stress disorder (PTSD) are efficacious, yet effectiveness may be limited by adverse effects and high withdrawal rates. Acupuncture is an emerging intervention with positive preliminary data for PTSD. Objective: To compare verum acupuncture with sham acupuncture (minimal needling) on clinical and physiological outcomes. Design, Setting, and Participants: This was a 2-arm, parallel-group, prospective blinded randomized clinical trial hypothesizing superiority of verum to sham acupuncture. The study was conducted at a single outpatient-based site, the Tibor Rubin VA Medical Center in Long Beach, California, with recruitment from April 2018 to May 2022, followed by a 15-week treatment period. Following exclusion for characteristics that are known PTSD treatment confounds, might affect biological assessment, indicate past nonadherence or treatment resistance, or indicate risk of harm, 93 treatment-seeking combat veterans with PTSD aged 18 to 55 years were allocated to group by adaptive randomization and 71 participants completed the intervention protocols. Interventions: Verum and sham were provided as 1-hour sessions, twice weekly, and participants were given 15 weeks to complete up to 24 sessions. Main Outcomes and Measures: The primary outcome was pretreatment to posttreatment change in PTSD symptom severity on the Clinician-Administered PTSD Scale-5 (CAPS-5). The secondary outcome was pretreatment to posttreatment change in fear-conditioned extinction, assessed by fear-potentiated startle response. Outcomes were assessed at pretreatment, midtreatment, and posttreatment. General linear models comparing within- and between-group were analyzed in both intention-to-treat (ITT) and treatment-completed models. Results: A total of 85 male and 8 female veterans (mean [SD] age, 39.2 [8.5] years) were randomized. There was a large treatment effect of verum (Cohen d, 1.17), a moderate effect of sham (d, 0.67), and a moderate between-group effect favoring verum (mean [SD] Δ, 7.1 [11.8]; t90 = 2.87, d, 0.63; P = .005) in the intention-to-treat analysis. The effect pattern was similar in the treatment-completed analysis: verum d, 1.53; sham d, 0.86; between-group mean (SD) Δ, 7.4 (11.7); t69 = 2.64; d, 0.63; P = .01). There was a significant pretreatment to posttreatment reduction of fear-potentiated startle during extinction (ie, better fear extinction) in the verum but not the sham group and a significant correlation (r = 0.31) between symptom reduction and fear extinction. Withdrawal rates were low. Conclusions and Relevance: The acupuncture intervention used in this study was clinically efficacious and favorably affected the psychobiology of PTSD in combat veterans. These data build on extant literature and suggest that clinical implementation of acupuncture for PTSD, along with further research about comparative efficacy, durability, and mechanisms of effects, is warranted. Trial Registration: ClinicalTrials.gov Identifier: NCT02869646.


Asunto(s)
Trastornos de Combate , Trastornos por Estrés Postraumático , Veteranos , Humanos , Adulto , Masculino , Trastornos por Estrés Postraumático/terapia , Femenino , Persona de Mediana Edad , Trastornos de Combate/terapia , Trastornos de Combate/psicología , Veteranos/psicología , Adulto Joven , Resultado del Tratamiento , Terapia por Acupuntura/métodos , Reflejo de Sobresalto/fisiología , Estudios Prospectivos , Acupuntura Auricular/métodos
18.
Mar Pollut Bull ; 203: 116442, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38718547

RESUMEN

Plastic nurdles pose a significant environmental threat due to recurrent accidental spills into marine ecosystems. This report examines the nurdle pollution over the 1498 km of the Galician coastline (Spain) following the spill of 25 t of nurdles into the Northwest Atlantic after the loss of six containers from the Toconao vessel in December 2023. This accident highlights the urgent need for proactive, effective measures in maritime transport to prevent and mitigate such environmental catastrophes. The complexity of nurdle dispersion challenges the evaluation of their fate at sea, and the potential long-term consequences on the marine ecosystem and food web remain uncertain and yet to be investigated. This report also presents the VIEIRA collaborative and underscores the critical role of citizen-led initiatives in responding to such environmental disasters, and advocates for efficient policy reforms, involving cross-border collaboration. Furthermore, we call for greater international cooperation to underpin effective regulatory frameworks to address the growing hazard of plastic nurdle pollution worldwide.


Asunto(s)
Plásticos , Contaminantes Químicos del Agua , España , Plásticos/análisis , Contaminantes Químicos del Agua/análisis , Monitoreo del Ambiente , Navíos , Océano Atlántico
19.
J Clin Med ; 13(2)2024 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-38256674

RESUMEN

Fluid status (FS) is a diagnostic challenge in critically ill patients with COVID-19. Here, we compared parameters related to FS derived from cumulative fluid balance (CFB), bioelectrical impedance analysis (BIA) and venous congestion assessed by ultrasound (VExUS) to predict mortality. We retrospectively reviewed the medical records of individuals with severe pneumonia due to COVID-19 between July and November 2021 in a single center. Comorbidities, demographic, clinical and laboratory data as well as results from CFB, BIA and VExUS measurements were collected on admission and weekly afterwards for two consecutive evaluations. Seventy-nine patients were included, of which eighteen (14.2%) died. Abnormalities of FS were only identified by BIA. Extracellular water/total body water ratio (ECW/TBW) > 0.394 (overhydrated) by BIA was a good predictor of mortality (AUC = 0.78, 95% CI: 0.067-0.89). Mortality risk was higher in overhydrated patients (OR: 6.2, 95% CI: 1.2-32.6, p = 0.02) and in persistently overhydrated patients (OR: 9.57, 95% CI: 1.18-77.5, p = 0.03) even after adjustment to age, serum albumin and acute kidney injury (AKI) in stages 2-3. Time to death was shorter in overhydrated patients (HR: 2.82, 95% CI: 1.05-7.5, log-rank test p = 0.03). Abnormalities in FS associated with mortality were only identified by BIA in critically ill patients with COVID-19.

20.
J Antimicrob Chemother ; 68(9): 2164-9, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23645584

RESUMEN

OBJECTIVES: To evaluate cases of chronic Chagas' disease for the long-term effects of treatment with itraconazole on Trypanosoma cruzi infections and the regression or development of ECG abnormalities. METHODS: In March 1992, we treated 46 patients with chronic Chagas' disease with 6 mg/kg/day of itraconazole for 120 days in a blind evaluation. The patients came from an area of Chile where the disease was endemic and were checked for ECG abnormalities and with xenodiagnosis (XD) or real-time XD-quantitative PCR (XD-qPCR) for Trypanosoma cruzi infection before treatment and once a year for 20 years. RESULTS: Twenty-one patients proved to be uninfected after 20 years and 15 of the patients had a normal ECG. Of the latter cases, 32.6% could be considered cured, although all of them had positive serology. Itraconazole prevents the development of ECG abnormalities, because after 20 years of treatment only 10.86% of patients developed ECG abnormalities (Z = 1.70, P = 0.046). XD-qPCR performed on 16 patients demonstrated 10 cases with <1.42 parasites/mL: eight with <1 parasite/mL, one with 1.42 parasites/mL and one with 1.01 parasites/mL. Five patients had more than 11.75 parasites/mL, all of them with a positive XD; these cases correspond to therapy failure, since re-infection was ruled out. In one case, XD-qPCR did not present amplification. CONCLUSIONS: Itraconazole is useful in the treatment of chronic Chagas' disease as it prevented the development of ECG abnormalities and cured 32.6% of patients.


Asunto(s)
Antiprotozoarios/administración & dosificación , Enfermedad de Chagas/tratamiento farmacológico , Itraconazol/administración & dosificación , Enfermedad de Chagas/parasitología , Enfermedad de Chagas/patología , Chile , Electrocardiografía , Estudios de Seguimiento , Humanos , Parasitología , Factores de Tiempo , Resultado del Tratamiento , Trypanosoma cruzi/efectos de los fármacos , Trypanosoma cruzi/aislamiento & purificación
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