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1.
J Exp Bot ; 75(18): 5641-5654, 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-38829345

RESUMEN

Sodium (Na+) is a beneficial element for most plants and may replace potassium (K+) in osmoregulatory process to a certain extent, increasing plant water use efficiency. Thus, understanding coordinated mechanisms underlying the combined use of K+ and Na+ in tree drought tolerance is a key challenge for forestry in dealing with productivity and water limitations. A pot experiment with three ratios of K/Na (K-supplied, partial K replacement by Na, and K-deficient plants) and two water regimes, well-watered (W+) and water-stressed (W-), was conducted on saplings of two Eucalyptus species with contrasting drought sensitivities. We evaluated the point of stomatal closure (Pgs90), xylem water potential at 12, 50, and 88% embolized xylem area (P12, P50, P88), hydraulic safety margin, leaf gas exchange (A, E, gs, and dark respiration), pre-dawn and midday leaf water potential (ΨPD and ΨMD), long-term water use efficiency (WUEL) and total dry mass. Partial K replacement by Na increased leaf gas exchange, WUEL, and total dry mass, while Pgs90, P12, P50, P88, and ΨMD decreased (were more negative), compared with plants exclusively supplied with K and K-deficient plants of both species. Fertilized plants had narrower hydraulic safety margins than K-deficient plants, indicating that these Eucalyptus species adopt the functional adaptive strategy of operating close to their hydraulic limits to maximize carbon uptake while increasing the risk of hydraulic failure under drought stress.


Asunto(s)
Sequías , Eucalyptus , Potasio , Sodio , Xilema , Eucalyptus/fisiología , Potasio/metabolismo , Xilema/fisiología , Xilema/metabolismo , Sodio/metabolismo , Fertilizantes/análisis , Agua/metabolismo
2.
Eur Eat Disord Rev ; 28(6): 724-738, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32770610

RESUMEN

OBJECTIVES: The study aimed to examine whether dissociation and attitudes towards change were associated with the psychopathology in patients with eating disorders (EDs) at 1-year follow-up. METHOD: The study included 110 females with anorexia nervosa and bulimia nervosa (48 and 62 respectively). At the beginning of the study and 1 year later, they were assessed by means of the following questionnaires: Dissociative Experiences Scale, Attitudes Towards Change (ACTA), State-Trait Anxiety Inventory, Rosenberg Self-Esteem Scale, Beck Depression Inventory, Eating Attitude Test, Bulimic Investigatory Test Edinburgh and Body Shape Questionnaire (BSQ). RESULTS: No statistically significant differences were found between both diagnostic groups regarding dissociation scores. The ACTA at baseline, specifically for patients in the contemplation stage, mediate the effect of dissociation on the psychopathological outcome. DISCUSSION: These findings suggest that dissociation might be a transdiagnostic feature related to the EDs outcome. The psychotherapeutic framework must take it into account, particularly in patients in the contemplation stage.


Asunto(s)
Anorexia Nerviosa/complicaciones , Anorexia Nerviosa/terapia , Bulimia Nerviosa/complicaciones , Bulimia Nerviosa/terapia , Trastornos Disociativos/etiología , Trastornos de Alimentación y de la Ingestión de Alimentos/complicaciones , Trastornos de Alimentación y de la Ingestión de Alimentos/terapia , Psicopatología/métodos , Adulto , Anorexia Nerviosa/psicología , Actitud , Bulimia Nerviosa/psicología , Trastornos Disociativos/psicología , Trastornos de Alimentación y de la Ingestión de Alimentos/psicología , Femenino , Humanos , Masculino , Resultado del Tratamiento , Adulto Joven
3.
Sensors (Basel) ; 19(18)2019 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-31533318

RESUMEN

Advanced driving-assistance systems (ADAS) are intended to automatize driver tasks, as well as improve driving and vehicle safety. This work proposes an intelligent neuro-fuzzy sensor for driving style (DS) recognition, suitable for ADAS enhancement. The development of the driving style intelligent sensor uses naturalistic driving data from the SHRP2 study, which includes data from a CAN bus, inertial measurement unit, and front radar. The system has been successfully implemented using a field-programmable gate array (FPGA) device of the Xilinx Zynq programmable system-on-chip (PSoC). It can mimic the typical timing parameters of a group of drivers as well as tune these typical parameters to model individual DSs. The neuro-fuzzy intelligent sensor provides high-speed real-time active ADAS implementation and is able to personalize its behavior into safe margins without driver intervention. In particular, the personalization procedure of the time headway (THW) parameter for an ACC in steady car following was developed, achieving a performance of 0.53 microseconds. This performance fulfilled the requirements of cutting-edge active ADAS specifications.

4.
Eur Arch Otorhinolaryngol ; 274(9): 3449-3455, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28625009

RESUMEN

In the last decades, the treatment schemes for patients with locally advanced laryngeal cancer have changed significantly. These changes may have an impact in the survival of these patients. Our objective is to review the treatments administered to patients with locally advanced larynx tumors during a period of 30 years in our institution and to evaluate the prognostic impact of the changes in treatment protocols. Retrospective analysis of a cohort of 830 consecutive patients with T3 or T4 laryngeal carcinomas diagnosed and treated between 1985 and 2014 with a minimum follow-up of 1.5 years. During the study period, we witnessed a reduction in surgery as the initial treatment, as well as a substitution of induction chemotherapy by chemoradiotherapy as an organ preservation strategy. For patients with T3 tumors, there were no differences in cancer-specific survival by type of treatment, while patients with T4 tumors treated surgically showed significantly better survival than those treated with preservation strategies. Patients treated in the last decade (2005-2014) showed worse cancer-specific survival than those treated in the previous decade (1995-2004). The multivariate analysis showed significant differences in cancer-specific survival for larger tumors, positive nodal extension, and treatment with radiotherapy alone. The main changes in the management of advanced laryngeal carcinomas are the implementation of organ preservation strategies that reduce the use of surgery and the progressive of chemoradiotherapy as a standard treatment. These changes may have had a negative impact in survival of these patients.


Asunto(s)
Predicción , Neoplasias Laríngeas/terapia , Laringe/patología , Estadificación de Neoplasias , Antineoplásicos/uso terapéutico , Quimioradioterapia , Terapia Combinada/tendencias , Femenino , Estudios de Seguimiento , Humanos , Quimioterapia de Inducción , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/mortalidad , Laringectomía , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , España/epidemiología , Tasa de Supervivencia/tendencias , Resultado del Tratamiento
5.
Rev Enferm ; 40(3): 39-42, 2017 Mar.
Artículo en Español | MEDLINE | ID: mdl-30277372

RESUMEN

Introduction: The channeling of central venous catheters (CVC) is a technique used in intensive care units (ICUs) but it doesn't come without the risk of infection in the placement and subsequent handling. Objective: Evaluate the effectiveness of a prevention of infection following the introduction of new multifactorial strategies in the prevention program Central line-associated bloodstream infection (CLABSI) at ICU. Methodology: Comparative descriptive study in two periods, including all patients admitted in multipurpose ICUs of a tertiary hospital 2014. We analyzed 2014 data compared with 2013, to test the impact of new measures CRB prevention program. Variables: number of catheters, number of infections/1000 catheter days and path. Actions carried out were: prospective surveillance of the incidence rate, sequential program multifactorial prevention implementation of different measures, checklist for insertion of new catheters, introduction of weekly monitoring compliance, reporting episodes team are, continuing education for sanitary personal and implementation of the semipermeable transparent dressings with chlorhexidine gel. Results: The overall incidence density rate decreased from 3.1 episodes/1000 catheter days in 2013 to 2.3 episodes/1000 catheter days in 2014, improving in different units. The utilization ratio of the different accesses was: 35% humeral; 33% jugular; 25% subclavian; 10% femoral, and 13% hemodialysis catheter. Conclusions: The new measures applied to reduce the bacteremia have allowed a decrease in the rate of infection, what brings closer to the objective of the Bacteremia Zero program.


Asunto(s)
Infecciones Relacionadas con Catéteres/etiología , Infecciones Relacionadas con Catéteres/prevención & control , Catéteres Venosos Centrales/efectos adversos , Infección Hospitalaria/etiología , Infección Hospitalaria/prevención & control , Control de Infecciones/organización & administración , Unidades de Cuidados Intensivos , Humanos , Evaluación de Programas y Proyectos de Salud
7.
J Med Genet ; 51(2): 76-82, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24262145

RESUMEN

BACKGROUND: We recently observed mutations in ADAR1 to cause a phenotype of bilateral striatal necrosis (BSN) in a child with the type I interferonopathy Aicardi-Goutières syndrome (AGS). We therefore decided to screen patients with apparently non-syndromic BSN for ADAR1 mutations, and for an upregulation of interferon-stimulated genes (ISGs). METHODS: We performed Sanger sequencing of ADAR1 in a series of patients with BSN presenting to us during our routine clinical practice. We then undertook detailed clinical and neuroradiological phenotyping in nine mutation-positive children. We also measured the expression of ISGs in peripheral blood from these patients, and in children with BSN who did not have ADAR1 mutations. RESULTS: Nine ADAR1 mutation-positive patients from seven families demonstrated an acute (five cases) or subacute (four cases) onset of refractory, four-limb dystonia starting between 8 months and 5 years of age. Eight patients were developmentally normal at initial presentation. In seven cases, the disease was inherited as an autosomal recessive trait, while two related patients were found to have a heterozygous (dominant) ADAR1 mutation. All seven mutation-positive patients assayed showed an upregulation of ISGs (median: 12.50, IQR: 6.43-36.36) compared to controls (median: 0.93, IQR: 0.57-1.30), a so-called interferon signature, present many years after disease onset. No interferon signature was present in four children with BSN negative for mutations in ADAR1 (median: 0.63, IQR: 0.47-1.10). CONCLUSIONS: ADAR1-related disease should be considered in the differential diagnosis of apparently non-syndromic BSN with severe dystonia of varying evolution. The finding of an interferon signature provides a useful screening test for the presence of ADAR1 mutations in this context, and may suggest novel treatment approaches.


Asunto(s)
Adenosina Desaminasa/genética , Interferón Tipo I/fisiología , Degeneración Estriatonigral/congénito , Estudios de Casos y Controles , Preescolar , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Lactante , Masculino , Técnicas de Diagnóstico Molecular , Mutación Missense , Proteínas de Unión al ARN , Degeneración Estriatonigral/enzimología , Degeneración Estriatonigral/genética
8.
Psychopathology ; 47(5): 303-11, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24819241

RESUMEN

BACKGROUND: The clinical presentation of children and adolescents referred to mental health services is frequently complicated by comorbid and severe affective and behavioral dysregulation. This dysregulation phenotype seems to be an indicator of overall psychopathology, symptom severity and functional impairment. Currently, this phenotype is assessed by the Child Behavior Checklist. However, the widely used Strengths and Difficulties Questionnaire (SDQ) has been recently validated to screen the Dysregulation Profile (SDQ-DP) in clinical settings. The objective of this study was to determine the prevalence and demographic, psychosocial and clinical correlates of the SDQ-DP phenotype in a Spanish clinical sample. SAMPLING AND METHODS: In a clinical sample of 623 consecutively referred children and adolescents (4-17 years old), we compared clinical and sociodemographic correlates between subjects who met the SDQ-DP criteria (DP) and those who did not (NO_DP). Sociodemographic data, parent-rated SDQ, Children's Global Assessment Scale, Clinical Global Impression, family Apgar scale and clinical diagnoses were collected by experienced child and adolescent psychiatrists. RESULTS: Overall in our sample, 175 subjects (28.1%) met the SDQ-DP criteria (DP group). Compared with the NO_DP group, the DP subjects had significantly higher scores on internalizing and externalizing psychopathology, problems with peers and overall problems as well as significantly lower scores on prosocial behavior. Clinical diagnoses assigned revealed that DP subjects showed significantly greater psychiatric comorbidity. DP subjects also showed significantly worse family functioning and increased symptom severity and significantly lower scores on psychosocial functioning. CONCLUSIONS: A high prevalence of children and adolescents with the dysregulated profile, assessed by the SDQ-DP, was found in our clinical setting. The SDQ-DP may serve as an index of overall psychological severity and functional impairment. In addition, it may indicate family dysfunction. Further research is needed to validate the clinical value of SDQ-DP by examining longitudinal stability, heritability, adult outcome, risk factors and diagnostic correlates.


Asunto(s)
Conducta Infantil , Trastornos Mentales/diagnóstico , Trastornos Mentales/psicología , Adolescente , Adulto , Lista de Verificación , Niño , Preescolar , Comorbilidad , Femenino , Humanos , Masculino , Padres , Fenotipo , Prevalencia , Psicopatología , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios
9.
Nutrients ; 16(19)2024 Oct 06.
Artículo en Inglés | MEDLINE | ID: mdl-39408358

RESUMEN

Metabolic conditions, such as gout, can result from elevated uric acid (UA) levels. Consuming high-purine meals increases UA levels. Therefore, people with hyperuricemia typically must avoid ingesting such foods. Polyphenols have been shown to reduce uric acid levels and tart cherries (TCs) are a rich source of phenolic and anthocyanin compounds. This proof-of-concept study evaluated whether ingesting TCs with a purine-rich meal affects the uricemic response. Methods: A total of 25 adults (15 males and 10 females, 85.0 ± 17 kg, 40.6 ± 9 years, 29.1 ± 4.9 kg/m2) with elevated fasting UA levels (5.8 ± 1.3 mg/dL) donated a fasting blood sample. In a randomized, double-blind, crossover, placebo-controlled, counterbalanced manner, participants ingested capsules containing 960 mg of a placebo (PLA) or concentrated TC powder containing 20.7 mg of proanthocyanins with a serving of hot soup (10 g of carbohydrate, 2 g protein, and 1 g fat) containing 3 g of purines (1 g of adenosine 5'-monophosphate, 1 g of disodium 5'-guanylate, and 1 g of disodium 5'-inosinate). Blood samples were obtained at 0, 60, 120, 180, and 240 min after ingestion to assess changes in uric acid levels and pharmacokinetic profiles. Cell blood counts, a comprehensive metabolic panel, cytokines, inflammatory markers, and subjective side effects ratings were analyzed on baseline (0 min) and post-treatment (240 min) samples. Participants continued consuming two capsules/day of the assigned treatment for one week and then repeated the experiment. Participants observed a 14-day washout and then repeated the experiment while ingesting the alternate treatment. Data were analyzed using general linear model (GLM) statistics with repeated measures, pairwise comparisons, and percentage change from baseline with 95% confidence intervals (CIs). Results: No statistically significant interaction effects or differences between treatments were seen in uric acid levels or PK profiles. Analysis of percent changes from baseline revealed that TC ingestion reduced the blood glucose levels following the ingestion of the high-purine meal (-4.2% [-7.7, -0.7], p = 0017). Additionally, there was some evidence that TC ingestion attenuated the increase from baseline in IL-1ß and IL-10 and increased INF-γ. No significant differences were seen in the remaining health markers or subjective side effects ratings. Conclusions: Acute and one-week TC supplementation did not affect the uricemic response to ingesting a high-purine meal in individuals with mildly elevated UA levels. However, there was some evidence that TC supplementation may blunt the glycemic response to ingesting a meal and influence some inflammatory cytokines. Registered clinical trial NCT04837274.


Asunto(s)
Biomarcadores , Estudios Cruzados , Suplementos Dietéticos , Prunus avium , Ácido Úrico , Humanos , Femenino , Masculino , Adulto , Ácido Úrico/sangre , Biomarcadores/sangre , Método Doble Ciego , Persona de Mediana Edad , Prunus avium/química , Prueba de Estudio Conceptual , Hiperuricemia/tratamiento farmacológico , Hiperuricemia/sangre , Polvos , Polifenoles/administración & dosificación , Polifenoles/farmacología , Purinas
10.
Nat Commun ; 15(1): 4077, 2024 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-38744816

RESUMEN

Strongly-interacting nanomagnetic arrays are ideal systems for exploring reconfigurable magnonics. They provide huge microstate spaces and integrated solutions for storage and neuromorphic computing alongside GHz functionality. These systems may be broadly assessed by their range of reliably accessible states and the strength of magnon coupling phenomena and nonlinearities. Increasingly, nanomagnetic systems are expanding into three-dimensional architectures. This has enhanced the range of available magnetic microstates and functional behaviours, but engineering control over 3D states and dynamics remains challenging. Here, we introduce a 3D magnonic metamaterial composed from multilayered artificial spin ice nanoarrays. Comprising two magnetic layers separated by a non-magnetic spacer, each nanoisland may assume four macrospin or vortex states per magnetic layer. This creates a system with a rich 16N microstate space and intense static and dynamic dipolar magnetic coupling. The system exhibits a broad range of emergent phenomena driven by the strong inter-layer dipolar interaction, including ultrastrong magnon-magnon coupling with normalised coupling rates of Δ f ν = 0.57 , GHz mode shifts in zero applied field and chirality-control of magnetic vortex microstates with corresponding magnonic spectra.

11.
Soc Psychiatry Psychiatr Epidemiol ; 48(8): 1327-33, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23407902

RESUMEN

PURPOSE: The aim of this study was to determine the role that birth order, sibship size and family structure have as risk factors in the development of common childhood mental disorders. METHOD: A case-control study design was conducted (N = 16,823). The group under study consisted of all those subjects who had consulted with a psychiatrist/psychologist and had received a clinical diagnosis at public mental health centres within the Region of Madrid (Spain), between 1980 and 2008. A multiple logistic regression was used to explore the independent association with each diagnosis: emotional disorders (ED) with onset specific to childhood, attention deficit hyperactivity disorder (ADHD), conduct disorder (CD), mental retardation (MR), and pervasive developmental disorder (PDD). RESULTS: Birth order and family structure significantly predicted the risk of being diagnosed with ED or ADHD. In addition, sibship size and sex predicted the risk of being diagnosed with a childhood mental disorder. CONCLUSIONS: We concluded that being the middle child and living with both biological parents appear to be protective factors against the development of ED or ADHD. Living in large families appears to increase the risk of receiving a CD, MR, or PDD diagnosis. Further research is warranted.


Asunto(s)
Orden de Nacimiento , Trastornos de la Conducta Infantil/diagnóstico , Trastornos Generalizados del Desarrollo Infantil/diagnóstico , Composición Familiar , Discapacidad Intelectual/diagnóstico , Hermanos , Estudios de Casos y Controles , Niño , Trastornos de la Conducta Infantil/epidemiología , Trastornos de la Conducta Infantil/psicología , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Trastornos Generalizados del Desarrollo Infantil/psicología , Femenino , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/psicología , Modelos Logísticos , Masculino , Edad Materna , Padres , Edad Paterna , Factores de Riesgo , Factores Socioeconómicos , España/epidemiología
12.
Ecol Evol ; 13(6): e10173, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37284665

RESUMEN

Mojave desert tortoises (Gopherus agassizii), a threatened species under the US Endangered Species Act, are long-lived reptiles that experience a chronic respiratory disease. The virulence of primary etiologic agent, Mycoplasma agassizii, remains poorly understood, but it exhibits temporal and geographic variability in causing disease outbreaks in host tortoises. Multiple attempts to culture and characterize the diversity of M. agassizii have had minimal success, even though this opportunistic pathogen chronically persists in nearly every population of Mojave desert tortoises. The current geographic range and the molecular mechanisms of virulence of the type-strain, PS6T, are unknown, and the bacterium is thought to have low-to-moderate virulence. We designed a quantitative polymerase chain reaction (qPCR) targeting three putative virulence genes annotated on the PS6T genome as exo-α-sialidases, enzymes which facilitate growth in many bacterial pathogens. We tested 140 M. agassizii-positive DNA samples collected from 2010 to 2012 across the range of Mojave desert tortoises. We found evidence of multiple-strain infections within hosts. We also found the prevalence of these sialidase-encoding genes to be highest in tortoise populations surrounding southern Nevada, the area from which PS6T was originally isolated. We found a general pattern of loss or reduced presence of sialidase among strains, even within a single host. However, in samples that were positive for any of the putative sialidase genes, one particular gene (528), was positively associated with bacterial loads of M. agassizii and may act as a growth factor for the bacterium. Our results suggest three evolutionary patterns: (1) high levels of variation, possibly due to neutral changes and chronic persistence, (2) a trade-off between moderate virulence and transmission, and (3) selection against virulence in environmental conditions known to be physiologically stressful to the host. Our approach of quantifying genetic variation via qPCR represents a useful model of studying host-pathogen dynamics.

13.
J Cardiothorac Surg ; 18(1): 32, 2023 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-36650554

RESUMEN

BACKGROUND: Less invasive monitoring, such as radial arterial pulse contour analysis (ProAQT® sensor), represents an alternative when hemodynamic monitoring is necessary to guide postoperative management and invasive monitoring is not technically feasible. The aim of the study is to evaluate the accuracy of the ProAQT® sensor cardiac output measurements in comparison with Pulmonary Artery Catheter (PAC) during the postoperative course of patients who underwent cardiac surgery with cardiopulmonary bypass. CASE PRESENTATION: Prospective observational study in a Surgical Intensive Care Unit of a tertiary university hospital. Ten patients with a mean age of 73.5 years were included. The main comorbidities were hypertension, diabetes, dyslipidemia and the preoperative left ejection fraction was 43.8 ± 14.5%. Regarding the type of surgery, six patients underwent valve surgery, two underwent coronary artery bypass grafting and two underwent aortic surgery. The cardiac index measured simultaneously by the ProAQT® sensor was compared with the PAC. The parameters were evaluated at predefined time points during the early postoperative courses (6 h, 12 h, 24 h, 48 h and 72 h). The degree of agreement with the cardiac index between the PAC and the ProAQT® sensor along the time points was measured using the concordance correlation coefficient, Bland-Altman analysis, and four-quadrant plot. Sixty-three pairs of measurements were analyzed. We showed that measurements of cardiac index were slightly higher with PAC (ß Ì‚ = - 0.146, p-value = 0.094). The concordance correlation coefficient for the additive model of cardiac index was 0.64 (95% Confidence Interval: 0.36, 0.82), indicating a high concordance between both sensors. Bland-Altmann analysis showed a mean bias of 0.45 L·min-1·m-2, limits of agreement from - 1.65 to 2.3 L·min-1·m-2, and percentage of error was 82.5%. Four-quadrant plot of changes in cardiac index showed a good concordance rate (75%), which increases after applying the exclusion zone (87%). CONCLUSIONS: In patients undergoing cardiac surgery, the ProAQT® sensor may be useful to monitor cardiac index during the postoperative period, especially when more invasive monitoring is not possible.


Asunto(s)
Presión Arterial , Procedimientos Quirúrgicos Cardíacos , Humanos , Anciano , Gasto Cardíaco , Monitoreo Intraoperatorio , Puente de Arteria Coronaria , Reproducibilidad de los Resultados
14.
Children (Basel) ; 10(2)2023 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-36832485

RESUMEN

Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth. Pathogenic variants in EDA1 (Xq12-13.1; OMIM*300451), EDAR (2q11-q13; OMIM*604095), EDARADD (1q42-q43, OMIM*606603), and WNT10A (2q35; OMIM*606268) genes are responsible for most EDs. Bi-allelic pathogenic variants of WNT10A have been associated with autosomal recessive forms of ED, as well as non-syndromic tooth agenesis (NSTA). The potential phenotypic impact of associated modifier mutations in other ectodysplasin pathway genes has also been pointed out. We present on an 11-year-old Chinese boy with oligodontia, with conical-shaped teeth as the main phenotype, and other very mild ED signs. The genetic study identified the pathogenic variants WNT10A (NM_025216.3): c.310C > T; p. (Arg104Cys) and c.742C > T; p. (Arg248Ter) in compound heterozygosis, confirmed by parental segregation. In addition, the patient had the polymorphism EDAR (NM_022336.4): c.1109T > C, p. (Val370Ala) in homozygosis, named EDAR370. A prominent dental phenotype with minor ectodermal symptoms is very suggestive of WNT10A mutations. In this case, the EDAR370A allele might also attenuate the severity of other ED signs.

15.
J Neurol Sci ; 446: 120565, 2023 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-36753892

RESUMEN

INTRODUCTION: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system. METHODS: We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, sensory neuropathy/neuronopathy, vestibulopathy and chronic cough. Medical records were retrospectively reviewed for a detailed clinical description. More extensive phenotyping of the RFC1-positive patients and clinical comparison between RFC1 positive and negative patients were performed. RESULTS: Biallelic AAGGG repeat expansions were identified in 13 patients (65%). The most frequent symptoms were chronic cough and sensory disturbances in the lower extremities (12/13). Only 4 patients (31%) had complete CANVAS. The phenotypes were sensory ataxia and sensory symptoms in extremities in 4/13; sensory ataxia, sensory symptoms, and vestibulopathy in 3/13; sensory symptoms plus chronic cough in 2/13. Chronic cough and isolated sensory neuronopathy were significantly more prevalent in RFC1-positive patients. CONCLUSION: Pathogenic RFC1 expansions are a common cause of sensory neuropathy/neuronopathy and should be considered in the approach to these patients. Identification of key symptoms or detailed interpretation of nerve conduction studies may improve patient selection for genetic testing.


Asunto(s)
Vestibulopatía Bilateral , Ataxia Cerebelosa , Enfermedades del Sistema Nervioso Periférico , Enfermedades Vestibulares , Humanos , Ataxia Cerebelosa/genética , Vestibulopatía Bilateral/complicaciones , Tos , Estudios Retrospectivos , Ataxia/complicaciones , Enfermedades del Sistema Nervioso Periférico/complicaciones , Enfermedades Vestibulares/complicaciones , Síndrome , Trastornos de la Sensación/etiología , Reflejo Anormal/fisiología
16.
Poult Sci ; 102(12): 103125, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37879168

RESUMEN

Salmonella spp. is a prevalent pathogen that causes great public health concern worldwide. Bacteriophage-based cocktails have arisen as an alternative to antibiotics to inhibit the growth of Salmonella. However, the bactericidal effect of bacteriophage cocktails in vivo largely differs from their observed effect in vitro. This is partly because in vitro developments of cocktails do not always consider the bacterial diversity nor the environmental conditions where bacteriophages will have to replicate. Here, we isolated and sequenced 47 bacteriophages that showed variable degrees of lytic activity against 258 Salmonella isolates from a commercial broiler company in Brazil. Three of these bacteriophages were characterized and selected to assemble a cocktail. In vitro quantitative assays determined the cocktail to be highly effective against multiple serovars of Salmonella, including Minnesota and Heidelberg. Remarkably, the in vitro lytic activity of the cocktail was retained or improved in conditions that more closely resembled the chicken gut, such as anaerobiosis, 42°C, and Salmonella mono-strain biofilms. Analysis of bacterial cross-resistance between the 3 bacteriophages composing the cocktail revealed limited or no generation of cross-resistance. Our results highlight the relevance of an optimized flux of work to develop bacteriophage cocktails against Salmonella with high lytic efficacy and strong potential to be applied in vivo in commercial broiler farms.


Asunto(s)
Bacteriófagos , Salmonella enterica , Animales , Pollos/microbiología , Antibacterianos , Brasil
17.
Br J Nutr ; 107 Suppl 2: S107-16, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22591885

RESUMEN

In animal studies, n-3 PUFA have been shown to influence body composition and to reduce the accumulation of body fat, thereby affecting body weight homeostasis. In addition, it has been suggested that an additional supply of n-3 PUFA during pregnancy or lactation, or both, would have a beneficial effect on birth weight and infant growth and development. The purpose of the present study was to systematically review interventional clinical trials on the effects of dietary n-3 PUFA supplementation on body weight in adult subjects and in infants whose mothers were supplemented with these fatty acids during pregnancy and/or lactation. A systematic search, focused on n-3 PUFA and body weight, and limited to controlled clinical trials, was performed in different databases. The quality of all included studies was assessed against set criteria, and results of eligible trials were compared. There were few studies targeting this topic. In adults, all of the five studies included, except for one, show no change in body weight by dietary supplementation with n-3 PUFA. Within those trials conducted in pregnant and/or lactating women in which a main outcome was birth weight or growth in infancy, two showed a modest increase in birth weight and the rest showed no effect. None of the trials showed an effect of maternal n-3 PUFA supplementation on infant's weight at the short term. However, it should be noted that a number of limitations, including a variety of experimental designs, type and doses of n-3 PUFA, and high attrition rates, among others, make impossible to draw robust conclusions from this review.


Asunto(s)
Peso al Nacer/efectos de los fármacos , Peso Corporal/efectos de los fármacos , Ácidos Grasos Omega-3/farmacología , Crecimiento/efectos de los fármacos , Fenómenos Fisiológicos Nutricionales del Lactante , Obesidad/fisiopatología , Fenómenos Fisiologicos de la Nutrición Prenatal , Dieta , Suplementos Dietéticos , Ácidos Grasos Omega-3/uso terapéutico , Femenino , Humanos , Lactante , Lactancia , Masculino , Obesidad/tratamiento farmacológico , Embarazo
18.
Nutrients ; 14(5)2022 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-35268010

RESUMEN

BACKGROUND: Dementia is a syndrome characterized by progressive cognitive impairment that interferes with independent function in daily activities. Symptoms of dementia depend on its cause and vary greatly between individuals. There is extensive evidence supporting a relationship between diet and cognitive functions. This systematic review studies the efficacy of using vitamin supplements in the diet as a solution to nutritional deficiencies and the prevention of dementia and mild cognitive impairment. METHODS: An intensive search of different databases (PubMed, Web of Science, and Cochrane CENTRAL) was performed. Articles that were published between 2011 and November 2021 were retrieved using the mentioned search strategy. This systematic review has been conducted according to the PRISMA statement. RESULTS: Folic acid supplementation proved to have better outcomes on cognitive tests than their respective control groups. The combined supplementation of folic acid and vitamin B12 showed some discrepancies between studies. Thiamine as supplementation did not only prove to have a positive impact on cognitive performance when given alone but also when given in combination with folic acid. Regarding vitamin D supplementation, the results observed were not so encouraging. A concomitant supplementation of low-dose vitamin E and vitamin C was also not associated with an improvement of cognitive function. CONCLUSIONS: The findings of this systematic review suggest that supplementation of B Complex vitamins, especially folic acid, may have a positive effect on delaying and preventing the risk of cognitive decline. Ascorbic acid and a high dose of vitamin E, when given separately, also showed positive effects on cognitive performance, but there is not sufficient evidence to support their use. The results of vitamin D supplementation trials are not conclusive in assessing the potential benefits that vitamin D might have on cognition.


Asunto(s)
Trastornos del Conocimiento , Demencia , Trastornos del Conocimiento/etiología , Demencia/etiología , Suplementos Dietéticos , Humanos , Vitamina B 12/uso terapéutico , Vitaminas/uso terapéutico
19.
Pharmaceuticals (Basel) ; 14(8)2021 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-34451833

RESUMEN

Due to the lack of an etiologic treatment for SARS-CoV-2 and the difficulties involved in developing new drugs, some drugs already approved for other diseases or with efficacy against SARS and MERS, have been used in patients with COVID-19. This systematic review aims to summarize evidence on the efficacy and safety of five antivirals applied to patients with COVID-19, that have proven to be effective either in vitro studies or in studies on SARS-CoV and MERS.; An intensive search of different databases (Pub Med, WoS, MEDLINE and Cochrane COVID-19 Study Register) has been carried out until the end of April 2021. This systematic review has been conducted according to the PRISMA statement. From each of the included studies, the characteristics of the intervention and comparison groups, demographic data and results were extracted independently; Remdesivir is well tolerated and helps to accelerate clinical improvement but is ineffective in reducing mortality. Favipiravir is safe and shows promising results regarding symptom resolution but does not improve viral clearance. The use of lopinavir/ritonavir has been associated with an increased risk of gastrointestinal adverse events and it has not proven to be effective. No significant differences were observed between patients treated with ribavirin or umifenovir and their respective control groups; Remdesivir and favipiravir are well tolerated and effective in accelerating clinical improvement. This systematic review does not support the use of lopinavir/ritonavir, ribavirin and umifenovir in hospitalized patients with COVID-19.

20.
Rev Alerg Mex ; 68(4): 251-263, 2021.
Artículo en Español | MEDLINE | ID: mdl-34904561

RESUMEN

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a potentially lethal clinical entity that belongs to the group of antibody-mediated encephalitis against synaptic proteins. It shows IgG antibodies against the NR1 subunit of the NMDA receptor (NMDA-R), which have been associated with psychiatric and neurological symptoms that develop in stages in the course of the disease. The predominance of neuropsychiatric symptoms in the early stages of the disease results in an increased number of patients that search for psychiatric evaluation as their first contact with the health system. For this reason, it is vital for physicians to recognize this entity as an important differential diagnosis in their clinical practice because, despite the severity of this condition, more than 75 % of patients achieve a substantial recovery with appropriate and timely treatment. We present a review of the literature on this disease, with special emphasis on the neuropsychiatric aspects.


La encefalitis por anticuerpos contra el receptor anti-N-metil-D-aspartato (NMDA) es una entidad clínica potencialmente letal perteneciente al grupo de las encefalitis mediadas por anticuerpos contra proteínas sinápticas. En esta se demuestran anticuerpos IgG contra el receptor de NMDA (NMDAr), asociados con síntomas psiquiátricos y neurológicos que se desarrollan por estadios en el curso de la enfermedad. El predominio de síntomas neuropsiquiátricos en las etapas tempranas provoca que un elevado porcentaje de pacientes busquen evaluación psiquiátrica como un primer contacto con el sistema de salud. Por esta razón, es vital que los médicos reconozcan esta entidad como un diagnóstico diferencial importante en la práctica clínica, puesto que, a pesar de la gravedad de esta condición, más de 75 % de los pacientes logra una recuperación sustancial con un tratamiento adecuado y oportuno. Presentamos una revisión de la literatura sobre esta enfermedad, con especial énfasis en los aspectos neuropsiquiátricos.


Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Encefalitis Antirreceptor N-Metil-D-Aspartato/psicología , Autoanticuerpos , Diagnóstico Diferencial , Humanos , Inmunoglobulinas , Receptores de N-Metil-D-Aspartato
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