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1.
Int J Mol Sci ; 24(20)2023 Oct 19.
Artículo en Inglés | MEDLINE | ID: mdl-37895040

RESUMEN

Grapevine development and ripening are complex processes that involve several biochemical pathways, including fatty acid and lipid metabolism. Fatty acids are essential components of lipids, which play crucial roles in fruit maturation and flavor development. However, the dynamics of fatty acid metabolism in grape flowers and berries are poorly understood. In this study, we present those dynamics and investigate the mechanisms of fatty acid homeostasis on 'Thompson Seedless' berries using metabolomic and proteomic analyses. Low-polar metabolite profiling indicated a higher abundance of fatty acids at the pre-flowering and pre-veraison stages. Proteomic analyses revealed that grape flowers and berries display unique profiles of proteins involved in fatty acid biosynthesis, triacylglycerol assembly, fatty acid ß-oxidation, and lipid signaling. These findings show, for the first time, that fatty acid metabolism also plays an important role in the development of non-oil-rich tissues, opening new perspectives about lipid function and its relation to berry quality.


Asunto(s)
Vitis , Vitis/metabolismo , Frutas/metabolismo , Proteómica , Metabolismo de los Lípidos , Ácidos Grasos/metabolismo , Lípidos , Regulación de la Expresión Génica de las Plantas
2.
J Occup Environ Med ; 65(12): 1045-1050, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-37705398

RESUMEN

INTRODUCTION: Work-related traumatic brain injury is a frequent cause of chronic morbidity, mortality, and high treatment costs. Its causes are highly environmentally determined and were affected by COVID-19 pandemic lockdowns. OBJECTIVE: We aimed to describe traumatic brain injury (TBI) epidemiology in working population and evaluate its modifications during the COVID-19 pandemic. METHODS: We performed a 2-year retrospective epidemiological analysis of TBI patients hospitalized in a tertiary work-related hospital before and during the COVID-19 pandemic. RESULTS: In the prepandemic period, TBI patients were predominantly men, with a bimodal age distribution. Crash accidents were the leading work-related traumatic brain injury cause. During COVID-19 pandemic lockdowns, there was a positive correlation between street traffic and TBI rate, presenting increased motor crash accidents as a cause of TBI. CONCLUSIONS: These results are relevant for planning and focalization of resources for TBI prevention.


Asunto(s)
Lesiones Traumáticas del Encéfalo , COVID-19 , Masculino , Humanos , Femenino , Estudios Retrospectivos , Chile/epidemiología , Pandemias , Accidentes de Tránsito , COVID-19/epidemiología , COVID-19/complicaciones , Control de Enfermedades Transmisibles , Lesiones Traumáticas del Encéfalo/epidemiología , Lesiones Traumáticas del Encéfalo/etiología
3.
Rev. chil. obstet. ginecol. (En línea) ; Rev. chil. obstet. ginecol;88(4): 248-254, ago. 2023. ilus
Artículo en Español | LILACS | ID: biblio-1515216

RESUMEN

La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.


Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.


Asunto(s)
Humanos , Femenino , Embarazo , Adulto Joven , Pentalogía de Cantrell/diagnóstico por imagen , Primer Trimestre del Embarazo , Ultrasonografía Prenatal , Aborto Inducido , Ectopía Cordis/etiología , Pentalogía de Cantrell/cirugía , Pentalogía de Cantrell/complicaciones
4.
Food Chem ; 411: 135498, 2023 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-36696718

RESUMEN

Consumers around the world prefer high quality table grapes. To achieve higher quality traits at ripening, grapevine producers apply different plant growth regulators. The synthetic cytokinin forchlorfenuron N-(2-chloro-4-pyridinyl)-N'-phenylurea (CPPU) is widely used, its effect on grape quality is poorly understood. We hypothesized that the use of CPPU in pre-flowering can lead to changes in the metabolism that affects grape quality at harvest. Therefore, we investigated the role of CPPU applications on the quality of grapes by integrating proteomics and metabolomics. CPPU-treated grapevines showed a significant increase in berry size and firmness. Proteomic analyses indicated that CPPU-treated berries accumulated enzymes associated with carbohydrate metabolism, glycolysis, and tricarboxylic acid (TCA) cycle at harvest. Metabolomic analyses showed shifts in the abundance of compounds associated with carbohydrate metabolism and TCA cycle in CPPU-treated grapes. These findings suggest that CPPU applications modulate central carbon metabolism, improving grape berry quality.


Asunto(s)
Citocininas , Vitis , Vitis/metabolismo , Frutas/metabolismo , Proteómica , Metabolómica
5.
Appl Radiat Isot ; 190: 110470, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36209646

RESUMEN

Uranium (U) and Thorium (Th) concentrations are normally low in the water (<30 and 5 ng mL-1, respectively). However, we performed a direct analysis of 232Th, 234U, 235U and 238U in cenote water from the Yucatán Peninsula using Inductively Coupled Plasma Mass Spectrometry (ICP-MS) as a rapid response technique to perform environmental radioactivity monitoring. Water samples were collected in 2021 from the cenotes and these were certificated by zones (PYNO, PYNE and PYSE) and monitoring depth [surface water (n = 52) and depth water (n = 48)]. Moreover, physicochemical parameters such as pH, electrical conductivity (EC), total dissolved solids (TDS), and temperature were measured in situ. Results obtained were total U and Th levels below permissible for human consumption. However, physicochemical parameters must be considered before use because it is outside the permissible limits in most cenotes. The median concentration value for 234U, 235U, 238U and 232Th in surface + depth water were 0.0001 ng mL-1, 0.0130 ng mL-1, 1.76 ng mL-1, and 0.062 ng mL-1, respectively. In addition, isotopic ratio of 235U/238U in surface + depth water was 0.00730. In addition, the PYNO zone showed a correlation between 232Th with EC and TDS. The PYSE zone showed a correlation between 232Th and temperature, and 235U/234U with pH, while PYEN did not show correlations. In conclusion, the first time evaluated U isotope concentrations and isotopic ratios of U and 232Th in cenote water from the Yucatán Peninsula, where U and Th concentrations were found below the permissible limits mentioned by guidelines for drinking-water quality. The average of 235U/238U is similar to isotopic ratios in "natural" water.


Asunto(s)
Torio , Uranio , Humanos , Isótopos/análisis , México , Torio/análisis , Uranio/análisis
6.
Rev Med Chil ; 150(1): 125-130, 2022 Jan.
Artículo en Español | MEDLINE | ID: mdl-35856975

RESUMEN

We report a 50-year-old woman with a history of celiac disease, who presented with lumbar pain and progressive flaccid tetraparesis 48 hours after the inoculation of the first dose of CoronaVac inactivated SARS-CoV-2 vaccine. CSF was normal and electrodiagnostic studies showed an axonal motor polyneuropathy. No other triggers were identified, and other etiologies were ruled out. The presentation was compatible with the AMAN (Acute Motor Axonal Neuropathy) subtype of GBS, and intravenous immunoglobulin halted the progression of symptoms. Intensive neurorehabilitation was performed. The patient was discharged five weeks after admission, walking with poles and climbing stairs with minimal assistance. To date no cases of inactivated SARSCoV-2 vaccine related GBS have been reported. Thus, description of its clinical presentation is relevant. We discuss the current evidence relating GBS with vaccines, highlighting that vaccine associated GBS is a controversial entity and causality must be interpreted cautiously given the actual COVID-19 pandemic context.


Asunto(s)
Vacunas contra la COVID-19 , COVID-19 , Síndrome de Guillain-Barré , COVID-19/prevención & control , Vacunas contra la COVID-19/efectos adversos , Femenino , Síndrome de Guillain-Barré/inducido químicamente , Síndrome de Guillain-Barré/epidemiología , Humanos , Persona de Mediana Edad , Pandemias , SARS-CoV-2 , Vacunas
7.
Sci Rep ; 12(1): 9998, 2022 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-35705722

RESUMEN

Bee pollen is recommended as dietary supplement due to immunostimulating functions including antioxidant, anti-inflammatory and anti-carcinogenic properties. Nevertheless, the effectiveness of such properties is still not well understood. As diet can be associated with animal performance, microbiota modulation and potentially factor for cancer, this study aimed to analyze if bee pollen could influence growth, gut microbial and skin cutaneous melanoma development in zebrafish. Control diets based on commercial flakes and Artemia were compared with the same diet supplemented with bee pollen. Fish weight gain, increased length, intestinal bacteria metagenomics analysis, serum amyloid A gene expression and cutaneous melanoma transplantation assays were performed. Bee pollen affected microbiota composition and melanoma development. Differential abundance revealed higher abundance in the control group for Aeromonadaceae family, Aeromonas and Pseudomonas genus, A. sobria, A. schubertii, A. jandaei and P. alcaligenes species compared with pollen diet group. Pollen group presented higher abundance for Chromobacterium genus and for Gemmobacter aquaticus, Flavobacterium succinicans and Bifidobacterium breve compared with control group. Unexpectedly, fish fed with bee pollen showed higher tumor growth rate and larger tumor size than control group. This is the first study to report intestinal microbial changes and no protective cancer properties after bee pollen administration.


Asunto(s)
Microbioma Gastrointestinal , Melanoma , Neoplasias Cutáneas , Animales , Abejas , Dieta , Melanoma/etiología , Polen , Neoplasias Cutáneas/etiología , Pez Cebra , Melanoma Cutáneo Maligno
8.
J Investig Med ; 70(5): 1258-1264, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35135872

RESUMEN

This is a multicenter cohort study including consecutive, hospitalized patients ≥18 years, with moderate to severe COVID-19, carried out to evaluate the relationship between the timing of convalescent plasma administration and 28-day mortality. Data were prospectively collected between May 14, 2020 and October 31, 2020. Patients were grouped according to the timing of administration of convalescent plasma as <3 days, between 3 and 7 days, and >7 days. The main outcome variable was 28-day mortality. Independent predictors of mortality were identified by logistic regression. Of 4719 patients receiving convalescent plasma, 3036 (64.3%) were in the general ward, 1171 (24.8%) in the intensive care unit (ICU), and 512 (10.8%) in the ICU on mechanical ventilation. Convalescent plasma was administered to 3113 (66%) patients within the first 3 days of hospital admission, to 1380 (29.2%) between 3 and 7 days, and to 226 after 7 days; 28-day mortality was, respectively, 18.1%, 30.4% and 38.9% (p<0.001). In the regression model, convalescent plasma administration within the first 3 days of admission was associated with reduced 28-day mortality, compared with the administration after 7 days (OR 0.40, 95% CI 0.30 to 0.53). Early convalescent plasma administration was associated to a significant decreased mortality in patients in the general ward (OR 0.45, 95% CI 0.29 to 0.69) and in the ICU (OR 0.35, 95% CI 0.19 to 0.64), but not in those requiring mechanical ventilation (OR 0.52, 95% CI 0.27 to 1.01). In conclusion, this study suggests that early administration of convalescent plasma to patients with COVID-19 pneumonia is critical to obtain therapeutic benefit.


Asunto(s)
COVID-19 , COVID-19/terapia , Estudios de Cohortes , Humanos , Inmunización Pasiva , SARS-CoV-2 , Sueroterapia para COVID-19
9.
Rev. méd. Chile ; 150(1): 125-130, ene. 2022. ilus, tab
Artículo en Español | LILACS | ID: biblio-1389613

RESUMEN

We report a 50-year-old woman with a history of celiac disease, who presented with lumbar pain and progressive flaccid tetraparesis 48 hours after the inoculation of the first dose of CoronaVac inactivated SARS-CoV-2 vaccine. CSF was normal and electrodiagnostic studies showed an axonal motor polyneuropathy. No other triggers were identified, and other etiologies were ruled out. The presentation was compatible with the AMAN (Acute Motor Axonal Neuropathy) subtype of GBS, and intravenous immunoglobulin halted the progression of symptoms. Intensive neurorehabilitation was performed. The patient was discharged five weeks after admission, walking with poles and climbing stairs with minimal assistance. To date no cases of inactivated SARSCoV-2 vaccine related GBS have been reported. Thus, description of its clinical presentation is relevant. We discuss the current evidence relating GBS with vaccines, highlighting that vaccine associated GBS is a controversial entity and causality must be interpreted cautiously given the actual COVID-19 pandemic context.


Asunto(s)
Humanos , Femenino , Síndrome de Guillain-Barré/inducido químicamente , Síndrome de Guillain-Barré/epidemiología , Vacunas contra la COVID-19/efectos adversos , COVID-19/prevención & control , Vacunas , Pandemias , SARS-CoV-2
10.
Rev. chil. obstet. ginecol. (En línea) ; Rev. chil. obstet. ginecol;86(3): 258-264, jun. 2021. ilus, tab
Artículo en Español | LILACS | ID: biblio-1388659

RESUMEN

INTRODUCCIÓN: La aneuploidía más común entre los recién nacidos vivos es el síndrome de Down (SD). En estos niños el crecimiento está disminuido, con una frecuencia del 25% de restricción del crecimiento intrauterino, pero no se ha establecido el papel de la insuficiencia placentaria. El objetivo es estudiar la resistencia placentaria a través del Doppler de arteria umbilical con índice de pulsatilidad (IP) y el tiempo medio de desaceleración (t/2), y el posible efecto de la insuficiencia placentaria en fetos con SD. MÉTODO: Se realizó Doppler en la arteria umbilical en 78 fetos con SD, se midieron el IP y el t/2, y se compararon los resultados con los pesos de nacimiento. RESULTADOS: Se estudiaron 78 fetos con SD con 214 mediciones Doppler. El t/2 y el IP estaban alterados en el 71,5% y el 65% de las mediciones, respectivamente. La incidencia de t/2 alterado aumenta con la edad gestacional desde un 28,6% a las 15-20 semanas hasta un 89,3% sobre las 36 semanas (p < 0,01); cifras similares se observan para el IP. La clasificación de los pesos fue: 64% adecuados, 12% grandes y 24% pequeños para la edad gestacional. La última medición de t/2 antes del parto era normal en el 17% y estaba alterada en el 83%. En el caso del IP, los valores fueron normales en el 27% y anormales en el 73%. El peso de nacimiento, la edad gestacional y el porcentaje de niños adecuados para la edad gestacional eran significativamente mayores en el grupo con Doppler normal que en el grupo con Doppler alterado. El z-score del t/2 estaba marcadamente alterado (−2.23), pero el del peso de nacimiento solo estaba algo disminuido (−0,39). La mortalidad perinatal fue del 10%, significativamente mayor cuando el flujo diastólico era ausente o reverso. CONCLUSIONES: El estudio demuestra que los fetos con SD tienen una alta incidencia de alteración del Doppler umbilical para el IP y el t/2, lo cual sugiere una insuficiencia placentaria grave. Este deterioro parece iniciarse hacia el final del segundo trimestre y aumenta con la edad gestacional. Sin embargo, en estos fetos, la insuficiencia placentaria produce una ligera caída en el crecimiento fetal. Como hipótesis general pensamos que en los fetos con SD hay datos claros de insuficiencia placentaria, pero habría algún factor que les protegería de una restricción grave del crecimiento.


INTRODUCTION: The most common aneuploidy in live newborns is Down syndrome (DS), in these children growth is decreased, with a frequency of 25-36% of fetal growth restriction (FGR); however, it is not established the role of placental insufficiency. The objective is to study the Doppler of the umbilical artery with pulsatility index (PI) and half peak systolic velocity (hPSV) deceleration time and the possible role of placental insufficiency in fetuses with DS. METHOD: Doppler was performed in fetuses with DS, the umbilical artery and IP and hPSV were measured, and the results were compared with birth weights. RESULTS: 78 fetuses with DS were studied with 214 Doppler measurements. hPSV and the IP were altered in 71.5% and 65% of the measurements; the incidence of abnormal hPSV increases with gestational age from 28.6% between 15 to 20 weeks, to 89.3% over 36 weeks (p < 0.01), similar figures are observed with respect to the PI. The weight classification was: 24% of FGR, 12% of great for age and 64% of adequate for gestational age (AGA). The last measurement of hPSV before delivery was normal in 17% of the fetuses and was abnormal in 83%, in the case of PI the normal and abnormal values were 27 and 73%, respectively. Birth weight, gestational age, and the percentage of AGA children were significantly higher in the normal Doppler group than in the abnormal Doppler group. The hPSV z-score was markedly altered (−2.23), but the birth weight z-score is slightly decreased (−0.39). Perinatal mortality is 10% and is significantly higher when diastolic flow is absent or reverse. CONCLUSIONS: The study shows that DS fetuses have a high incidence of abnormal umbilical Doppler measured with IP and hPSV, which suggests severe placental insufficiency, this deterioration seems to start towards the end of the second trimester and increases with gestational age. However, in these fetuses, placental insufficiency causes a discrete drop in fetal growth. As a general hypothesis, we think that there is clear evidence of placental insufficiency in fetuses with DS, but there would be some factor that would protect these fetuses from severe growth restriction.


Asunto(s)
Humanos , Femenino , Embarazo , Arterias Umbilicales/diagnóstico por imagen , Síndrome de Down/diagnóstico por imagen , Insuficiencia Placentaria/etiología , Velocidad del Flujo Sanguíneo , Flujo Pulsátil , Ultrasonografía Prenatal , Edad Gestacional , Ultrasonografía Doppler , Desaceleración , Retardo del Crecimiento Fetal/etiología
11.
PLoS One ; 16(4): e0250386, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33914780

RESUMEN

BACKGROUND: Convalescent plasma, widely utilized in viral infections that induce neutralizing antibodies, has been proposed for COVID-19, and preliminary evidence shows that it might have beneficial effect. Our objective was to determine the risk factors for 28-days mortality in patients who received convalescent plasma for COVID-19 compared to those who did not, who were admitted to hospitals in Buenos Aires Province, Argentina, throughout the pandemic. METHODS: This is a multicenter, retrospective cohort study of 2-month duration beginning on June 1, 2020, including unselected, consecutive adult patients with diagnosed COVID-19, admitted to 215 hospitals with pneumonia. Epidemiological and clinical variables were registered in the Provincial Hospital Bed Management System. Convalescent plasma was supplied as part of a centralized, expanded access program. RESULTS: We analyzed 3,529 patients with pneumonia, predominantly male, aged 62±17, with arterial hypertension and diabetes as main comorbidities; 51.4% were admitted to the ward, 27.1% to the Intensive Care Unit (ICU), and 21.7% to the ICU with mechanical ventilation requirement (ICU-MV). 28-day mortality was 34.9%; and was 26.3%, 30.1% and 61.4% for ward, ICU and ICU-MV patients. Convalescent plasma was administered to 868 patients (24.6%); their 28-day mortality was significantly lower (25.5% vs. 38.0%, p<0.001). No major adverse effects occurred. Logistic regression analysis identified age, ICU admission with and without MV requirement, diabetes, and preexistent cardiovascular disease as independent predictors of 28-day mortality, whereas convalescent plasma administration acted as a protective factor. CONCLUSIONS: Our study suggests that the administration of convalescent plasma in COVID-19 pneumonia admitted to the hospital might be associated with improved outcomes.


Asunto(s)
COVID-19/terapia , Anciano , Anciano de 80 o más Años , COVID-19/mortalidad , Femenino , Humanos , Inmunización Pasiva/métodos , Unidades de Cuidados Intensivos , Masculino , Persona de Mediana Edad , Respiración Artificial , Estudios Retrospectivos , Factores de Riesgo , SARS-CoV-2/aislamiento & purificación , Resultado del Tratamiento , Sueroterapia para COVID-19
12.
Environ Sci Pollut Res Int ; 28(28): 37754-37767, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33721164

RESUMEN

The aim of this study was to assess the impact of urban and industrial areas on an urban river through a comprehensive analysis of water and sediments. Six different sites along the San Luis River, Argentina, were characterized by measuring 12 physical-chemical parameters and nine heavy metals according to standard protocols. Metal pollution in sediment samples was evaluated with several indices. Cluster analysis was applied to standardized experimental data in order to study spatial variability. As, Cu, Cr, Mn, Pb, and Zn were the main contributors to sediment pollution, and the industrial zone studied showed moderate enrichment of Co, Cu, and Zn, probably due to anthropogenic activities. Cluster analysis allowed the grouping of the sites: sediment samples were classified into two clusters according to the metal content; water samples were arranged into three groups according to organic matter content. The results were compared with sediment and water quality guidelines. They indicated progressive deterioration of water and sediment quality compared with the background area, mainly in the sites following the industrial park and domestic discharge areas. Moreover, the results showed that the analysis of both water and sediment should be considered to achieve a watershed contamination profile.


Asunto(s)
Metales Pesados , Contaminantes Químicos del Agua , Argentina , Monitoreo del Ambiente , Sedimentos Geológicos , Metales Pesados/análisis , Ríos , Agua , Contaminantes Químicos del Agua/análisis , Calidad del Agua
13.
Mol Genet Metab Rep ; 25: 100679, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33304816

RESUMEN

INTRODUCTION: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the accumulation of two glycosaminoglycans in cell lysosomes, namely, chondroitin and keratan sulfate. OBJECTIVE: To present two female patients with Morquio A syndrome in their late adult years (over 50 years of age) with a classical phenotype, treated with enzyme replacement therapy; and to present a summary of the natural history and the characteristics of the disease, and the benefit of comprehensive management. MATERIALS AND METHODS: Descriptive clinical study before and after the treatment with enzyme replacement therapy as part of the comprehensive management of MPS IVA. RESULTS: Enzyme replacement therapy with elosulfase alfa was effective, with an adequate safety profile in these two patients, showing evidence of sustained improvement in terms of endurance and gait patterns. CONCLUSION: We present two cases of MPS IVA, with longer survival than reported previously in classical phenotypes associated with this disease condition. There is a paucity of reports of similar cases in the literature. We believe that the clinical heterogeneity of the disease manifesting with the classical phenotype, together with comprehensive management, have played a role in the survival of these two patients. Therapy with elosulfase alfa as part of comprehensive management has been crucial; we suspect a clinical response and infer a better quality of life and reduced burden for the caregiver, supporting its use in older patients.

14.
Rev. med. Risaralda ; 26(2): 160-165, jul.-dic. 2020. tab, graf
Artículo en Español | LILACS, COLNAL | ID: biblio-1150025

RESUMEN

Resumen El síndrome de Ellis van Creveld es un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.


Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.


Asunto(s)
Humanos , Femenino , Niño , Anomalías Congénitas , Síndrome de Ellis-Van Creveld , Signos y Síntomas , Volición , Displasia Ectodérmica , Técnicas de Diagnóstico Molecular , Genes , Cardiopatías Congénitas , Mutación
15.
Rev. chil. obstet. ginecol ; 80(3): 269-274, jun. 2015. ilus, tab
Artículo en Español | LILACS | ID: lil-752880

RESUMEN

La teoría del Conflicto Genómico es parte de la biología evolutiva y actúa en los mamíferos a través del mecanismo de impronta genética, estos genes cumplen un rol central en el desarrollo fetal y del trofoblasto contribuyendo a un balance entre los requerimientos nutricionales fetales (genes con impronta paterna) y el aporte materno (genes con impronta materna). El desbalance de estos genes tiene implicancias en la etiopatogenia de diversas patologías en Gineco-Obstetricia: en Medicina Fetal (preeclampsia, diabetes gestacional, síndrome de Beckwith-Wiedemann), oncología (mola completa, mola incompleta, teratomas) y fertilidad. Se presenta un caso de displasia mesenquimática placentaria asociado a Beckwith-Wiedemann.


The theory of Genomic Conflict is part of evolutionary biology and acts in mammals through the mechanism of genetic imprinting, these genes play a central role in fetal and trophoblastic development producing a balance between fetal nutritional requirements (genes with paternal imprinting) and maternal supply (genes with maternal imprinting). The imbalance of these genes has implications in the pathogenesis of various diseases in Obstetrics and Gynecology: in Fetal Medicine (preeclampsia, gestational diabetes, Beckwith-Wiedemann syndrome), oncology (complete and partial hydatiform mole, teratomas) and fertility. A case of placental mesenchymal dysplasia associated with Beckwith-Wiedemann is presented.


Asunto(s)
Humanos , Femenino , Embarazo , Trofoblastos , Impresión Genómica , Ginecología , Obstetricia , Preeclampsia , Biología Evolutiva , Genoma , Desarrollo Fetal , Infertilidad
16.
Chiropt. Neotrop. (Impr.) ; 18(2): 1123-1127, 2012.
Artículo en Inglés | VETINDEX | ID: biblio-1471984

RESUMEN

Leucism is a partial hypopigmentary congenital disorder previously recorded in México in seven bat specimens of six species. In August 2009, in the state of Hidalgo, we caught one Sturnira ludovici and one Artibeus watershousii was caught in April 2010, in Guerrero. Leucism has not been frequently reported and it may be more common than suggested by pubblished results. In order to evalute this supposition, we cheked the mammal collection of the Escuela Nacional de Ciencias Biológicas (Instituto Politécnico Nacional) to look for other evidences of leucism in bats. We found siz more specimens, three Artibeus jamaicensis and three Tadarida brasiliensis with this condition. These specimens raise to 16 the records of bats of nine species with leucism in México.


Asunto(s)
Animales , Anomalías Congénitas , México , Quirópteros/clasificación , Pigmentos Retinianos/análisis
17.
Chiropt. neotrop. ; 18(2): 1123-1127, 2012.
Artículo en Inglés | VETINDEX | ID: vti-2836

RESUMEN

Leucism is a partial hypopigmentary congenital disorder previously recorded in México in seven bat specimens of six species. In August 2009, in the state of Hidalgo, we caught one Sturnira ludovici and one Artibeus watershousii was caught in April 2010, in Guerrero. Leucism has not been frequently reported and it may be more common than suggested by pubblished results. In order to evalute this supposition, we cheked the mammal collection of the Escuela Nacional de Ciencias Biológicas (Instituto Politécnico Nacional) to look for other evidences of leucism in bats. We found siz more specimens, three Artibeus jamaicensis and three Tadarida brasiliensis with this condition. These specimens raise to 16 the records of bats of nine species with leucism in México.(AU)


Asunto(s)
Animales , Quirópteros/clasificación , México , Anomalías Congénitas , Pigmentos Retinianos/análisis
20.
J Interv Card Electrophysiol ; 21(3): 195-201, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18324457

RESUMEN

INTRODUCTION: Long-term prognosis after pacemaker implant depends on numerous variables, particularly structural heart disease. There is evidence that apical stimulation could favor the development of heart failure and, therefore, influence mortality. Other right ventricular pacing sites have been studied, for example the outflow tract, but no reports regarding long-term clinical outcome are available. OBJECTIVE: Compare all-cause mortality between two different sites of stimulation in the right ventricle. METHODS: We retrospectively analyzed 150 consecutive patients who underwent pacemaker implantation because of complete AV block (spontaneous or after AV node ablation), symptomatic second-degree AV block, and symptomatic atrial fibrillation with slow ventricular response. All patients were implanted at the same institution with the standard technique. Apical stimulation was performed with a passive or active fixation lead and outflow tract pacing with an active fixation lead. Data collection period began in July 1999 and ended on December 2004. All patients included were greater than 70% ventricular paced during pacemaker follow-up. Patients older than 85 years were excluded from the analysis. Age, pacemaker mode, sex, ejection fraction, diabetes, and structural cardiac disease were analyzed. Mean age was 72+/-7 years (median 74 years, range 27-85 years), 101 (67%) were male, 56 had implanted a VVI PM, and 94 patients a DDD PM. Patients were divided into two groups: outflow tract (55 patients) and apical pacing (95 patients). Mean follow-up was 1,231+/-642 days (median 1,158 days, range 9 to 2,694 days), which ended on July 2007. Total mortality was examined with the Kaplan-Meier method to construct overall survival curves. Multivariate Cox proportional hazards regression models were performed. RESULTS: All patients or relatives were contacted personally or by phone. There were no major statistical differences in patient background between the two groups. During follow-up, 18 patients (32%) died in the outflow tract group and 49 (51%) in the apical group (log-rank p=0.02). Cox regression multivariate analysis showed that outflow tract pacing and a low left ventricular ejection fraction (<40%) were the only independent variables with significant correlation with survival (p=0.006 and 0.003, respectively). CONCLUSIONS: Outflow tract pacing appears to improve medium- and long-term survival. Prospective randomized trials with a greater amount of patients are necessary to confirm the findings of this study.


Asunto(s)
Bloqueo Atrioventricular/terapia , Estimulación Cardíaca Artificial/métodos , Marcapaso Artificial , Adulto , Anciano , Anciano de 80 o más Años , Bloqueo Atrioventricular/mortalidad , Bloqueo Atrioventricular/fisiopatología , Electrocardiografía , Femenino , Ventrículos Cardíacos/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Tasa de Supervivencia
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