102 research outputs found
Alcohol Use and Earnings: Findings from a Community Based Study
In this paper, we examine whether moderate alcohol consumption is associated with higher wages. A population-based sample of Mexican American workers, in the U.S. Southwest is employed. Estimation results indicate a positive association for the entire sample. The findings for the U.S. born Mexican Americans are similar to those of the other U.S. natives. However, we find mixed results for the Mexican born participants, perhaps due to their more recent arrival to the United States These results are consistent with the view that U.S. born Mexican Americans gradually resemble other U.S. born populations in reported trends of alcohol consumption and its association to wages.
The Elderly of Hispanic Origin: Population Characteristics for 1980
This paper, therefore, focuses on salient demographic trends regarding each subgroup within the Hispanic. cluster (i.e., Mexican, Puerto Rican and Cuban) and examines dissimilarities in life expectancy, educational achievement, economic status and regional distribution which are attributable to within cluster structural deprivation and not to cultural disparities. An underlying assumption of this paper is that inequalities in American society have generated many of the observed sociodemographic variations among subgroups of older Hispanics. Furthermore, the demographic characteristics exhibited by either the cluster, the subgroup, or both primarily reflect the minority status of this population within the larger structure of American society and as such are independent of cultural influences. Lastly, it is the author's view that the "double jeopardy" hypothesis, about which much has been written in the last decade, directly impinges on the observed demographic dissimilarities that have been noted between minority and majority elderly and therefore for the Hispanic elderly. However, it is suggested that caution must be exercised in extending the effect of the double jeopardy situation to primary group experiences (e.g., the family) and to intrapersonal subjective states (e.g., life satisfaction), for in these two situations cultural variables appear to impact upon the life experiences of older Hispanics and may lessen the negative impact of the socioeconomic variables associated with minority status
Registros del delfín gris, Grampus griseus, en aguas costeras del sur de Argentina
We review the records of published and unpublished sightings and strandings for Risso’s dolphin (Grampus griseus) in subantarctic waters of the Southwestern South Atlantic Ocean. Based on 59 sighting (n = 521 individuals) and 33 stranding records (n = 88 individuals), we identified three main areas of Risso’s dolphin concentration in Patagonian waters, which have been observed mostly during the austral summer. We were unable to find published or unpublished reports of Risso’s dolphin in offshore or over deep-water areas in this region. Future studies covering other potential areas of the species’ distribution are important to improve the scarce information known for this dolphin in this area.Fil: Riccialdelli, Luciana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Austral de Investigaciones Científicas; Argentina. Museo Acatushún de Aves y Mamíferos Marinos Australes; ArgentinaFil: Torres, Monica Analia. Museo Acatushún de Aves y Mamíferos Marinos Australes; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Prosser Goodall, Rae Natalie. Museo Acatushún de Aves y Mamíferos Marinos Australes; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Austral de Investigaciones Científicas; ArgentinaFil: Dellabianca, Natalia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Austral de Investigaciones Científicas; Argentina. Museo Acatushún de Aves y Mamíferos Marinos Australes; ArgentinaFil: Pimper, Lida Elena. Museo Acatushún de Aves y Mamíferos Marinos Australes; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Ecología, Genética y Evolución; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Reyes, Laura M.. Universidad Nacional de la Patagonia; ArgentinaFil: Fernández Ajó, Alejandro . Universidad Nacional de la Patagonia; ArgentinaFil: Bastida, Ricardo Oscar. Universidad Nacional de Mar del Plata; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin
Role of oxidative stress and antioxidant enzymes in Crohn’s disease,”
Abstract There is increasing interest in oxidative stress being a potential aetiological factor and/or a triggering factor in Crohn's disease, rather than a concomitant occurrence during the pathogenesis of the disease. Recent research has shown that the immune mononuclear cells of Crohn's disease patients are induced to produce hydrogen peroxide (H 2 O 2 ). Similarly, the regulation of antioxidant enzymes during disease in these cells has been unravelled, showing that SOD (superoxide dismutase) activity and GPx (glutathione peroxidase) activity is increased during active disease and returns to normal in remission phases. However, catalase remains constantly inhibited which supports the idea that catalase is not a redox-sensitive enzyme, but a regulator of cellular processes. ROS (reactive oxygen species) can be produced under the stimulus of different cytokines such as TNFα (tumour necrosis factor α). It has been shown in different experimental models that they are also able to regulate apoptosis and other cellular processes. The status of oxidative stress elements in Crohn's disease and their possible implications in regulating cellular processes are reviewed in the present paper
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
[Background]: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants.
[Objectives]: To characterize the clinical and laboratory phenotype, and identifying the underlying molecular alteration, in a pedigree with thrombocytopenia of uncertain etiology.
[Patients/Methods]: Index case was enrolled in our Spanish multicentric project of inherited platelet disorders due to lifelong thrombocytopenia and bleeding. Bleeding score was recorded by ISTH‐BAT. Laboratory phenotyping consisted of blood cells count, blood film, platelet aggregation and flow cytometric analysis. Genotyping was made by whole‐exome sequencing (WES). Cytoskeleton proteins were analyzed in resting/spreading platelets by immunofluorescence and immunoblotting.
[Results]: Five family members displayed lifelong mild thrombocytopenia with a high number of enlarged platelets in blood film, and mild bleeding tendency. Patient's platelets showed normal aggregation and granule secretion response to several agonists. WES revealed a novel nonsense variant (c.322C>T; p.Gln108*) in TPM4 (NM_003290.3), the gene encoding for tropomyosin‐4 (TPM4). This variant led to impairment of platelet spreading capacity after stimulation with TRAP‐6 and CRP, delocalization of TPM4 in activated platelets, and significantly reduced TPM4 levels in platelet lysates. Moreover, the index case displayed up‐regulation of TPM2 and TPM3 mRNA levels.
[Conclusions]: This study identifies a novel TPM4 nonsense variant segregating with macrothrombocytopenia and impaired platelet cytoskeletal remodeling and spreading. These findings support the relevant role of TPM4 in thrombopoiesis and further expand our knowledge of TPM4‐related thrombocytopenia.This work was partially supported by grants from Instituto de Salud Carlos III (ISCIII) and Feder (PI17/01966, PI20/00926), Gerencia Regional de Salud (GRS2061A/19, GRS2135/A/2020, GRS2314/A/2021), Fundación Mutua Madrileña (FMM, AP172142019) and Sociedad Española de Trombosis y Hemostasia (SETHFETH; Premio López Borrasca 2019 and Ayuda a Grupos de Trabajo en Patología Hemorrágica 2020 and 2021).Peer reviewe
Characterization of the platelet phenotype caused by a germline RUNX1 Variant in a CRISPR/Cas9-generated murine model
RUNX1-related disorder (RUNX1-RD) is caused by germline variants affecting the RUNX1 gene. This rare, heterogeneous disorder has no specific clinical or laboratory phenotype, making genetic diagnosis necessary. Although international recommendations have been established to classify the pathogenicity of variants, identifying the causative alteration remains a challenge in RUNX1-RD. Murine models may be useful not only for definitively settling the controversy about the pathogenicity of certain RUNX1 variants, but also for elucidating the mechanisms of molecular pathogenesis. Therefore, we developed a knock-in murine model, using the CRISPR/Cas9 system, carrying the RUNX1 p.Leu43Ser variant (mimicking human p.Leu56Ser) to study its pathogenic potential and mechanisms of platelet dysfunction. A total number of 75 mice were generated; 25 per genotype (RUNX1WT/WT, RUNX1WT/L43S, and RUNX1L43S/L43S). Platelet phenotype was assessed by flow cytometry and confocal microscopy. On average, RUNX1L43S/L43S and RUNX1WT/L43S mice had a significantly longer tail-bleeding time than RUNX1WT/WT mice, indicating the variant's involvement in hemostasis. However, only homozygous mice displayed mild thrombocytopenia. RUNX1L43S/L43S and RUNX1WT/L43S displayed impaired agonist-induced spreading and α-granule release, with no differences in δ-granule secretion. Levels of integrin αIIbβ3 activation, fibrinogen binding, and aggregation were significantly lower in platelets from RUNX1L43S/L43S and RUNX1WT/L43S using phorbol 12-myristate 13-acetate (PMA), adenosine diphosphate (ADP), and high thrombin doses. Lower levels of PKC phosphorylation in RUNX1L43S/L43S and RUNX1WT/L43S suggested that the PKC-signaling pathway was impaired. Overall, we demonstrated the deleterious effect of the RUNX1 p.Leu56Ser variant in mice via the impairment of integrin αIIbβ3 activation, aggregation, α-granule secretion, and platelet spreading, mimicking the phenotype associated with RUNX1 variants in the clinical setting.This work was partially supported by grants from Instituto de Salud Carlos III (ISCIII) and Feder (PI17/01311, PI17/01966, and CB15/00055), Fundación Séneca (19873/GERM/15), Gerencia Regional de Salud (GRS 2061A/19 and 1647/A/17), Fundación Mutua Madrileña (FMM, AP172142019), and Sociedad Española de Trombosis y Hemostasia (SETH-FETH; Premio López Borrasca 2019 and Ayuda a Grupos de Trabajo en Patología Hemorrágica 2019). The authors' research on IPDs is conducted in accordance with the aims of the Functional and Molecular Characterization of Patients with Inherited Platelet Disorders Project, which is supported by the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis. A.M.-Q., C.F.-I., and L.H.-C. were supported by predoctoral grants from the Junta de Castilla y León, Spain. E.V. was supported by the predoctoral grant from the University of Salamanca, Spain. IG-T and RB were supported by "Contratos postdoctorales Programa II) from the University of Salamanca, Spain
Effects of a primary care-based multifactorial intervention on physical and cognitive function in frail, elderly individuals : A randomized controlled trial
Background: Detecting and managing frailty at early stages can prevent disability and other adverse outcomes. The study aim was to evaluate whether a multifactorial intervention program could modify physical and cognitive frailty parameters in elderly individuals. Methods: We conducted a multicenter, randomized, single-blind, parallel-group trial in community-living prefrail/frail elderly individuals in Barcelona. A total of 352 patients, aged ≥65 years old with positive frailty screening, was randomized into two groups to receive a 12-week multidisciplinary intervention or usual care, with concealed allocation. The intervention consisted of: exercise training, intake of hyperproteic nutritional shakes, memory training, and medication review. Main outcome assessments with multivariate analysis were conducted at 3 and 18 months. Results: A total of 347 participants (98.6%) completed the study, mean age 77.3 years, 89 prefrail subjects (25.3%), and 75.3% female (n = 265). Eighteen-month assessments were performed in 76% of the sample. After 3 and 18 months, adjusted means difference between-groups showed significant improvements for the intervention group in all comparisons: Short Physical Performance Battery score improved 1.58 and 1.36 points (p <.001), handgrip strength 2.84 and 2.49 kg (p <.001), functional reach 4.3 and 4.52 cm (p <.001), and number of prescriptions decreased 1.39 and 1.09 (p <.001), respectively. Neurocognitive battery also showed significant improvements across all dimensions at 3 and 18 months. Conclusions: A physical, nutritional, neurocognitive, and pharmacological multifaceted intervention was effective in reversing frailty measures both at short-term and 18 months. Lasting benefits of a multi-intervention program among frail elderly individuals encourage its prioritization
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet formation. The enzyme uridine diphosphate (UDP)-galactose-4-epimerase, encoded by GALE, is involved in galactose metabolism and protein glycosylation. Here, we studied 3 patients from 2 unrelated families who showed lifelong severe thrombocytopenia, bleeding diathesis, mental retardation, mitral valve prolapse, and jaundice. Whole-exome sequencing revealed 4 variants that affect GALE, 3 of those previously unreported (Pedigree A, p.Lys78ValfsX32 and p.Thr150Met; Pedigree B, p.Val128Met; and p.Leu223Pro). Platelet phenotype analysis showed giant and/or grey platelets, impaired platelet aggregation, and severely reduced alpha and dense granule secretion. Enzymatic activity of the UDP-galactose-4-epimerase enzyme was severely decreased in all patients. Immunoblotting of platelet lysates revealed reduced GALE protein levels, a significant decrease in N-acetyl-lactosamine (LacNAc), showing a hypoglycosylation pattern, reduced surface expression of gylcoprotein Ibα-IX-V (GPIbα-IX-V) complex and mature β1 integrin, and increased apoptosis. In vitro studies performed with patients-derived megakaryocytes showed normal ploidy and maturation but decreased proplatelet formation because of the impaired glycosylation of the GPIbα and β1 integrin, and reduced externalization to megakaryocyte and platelet membranes. Altered distribution of filamin A and actin and delocalization of the von Willebrand factor were also shown. Overall, this study expands our knowledge of GALE-related thrombocytopenia and emphasizes the critical role of GALE in the physiological glycosylation of key proteins involved in platelet production and function.This work was supported by grants from Instituto de Salud Carlos III (ISCIII) & Feder (PI17/01966, PI20/00926) and cofunded by European Union (ERDF/ESF, “Investing in your future”), Gerencia Regional de Salud (GRS2061/A/2019, GRS2135/A/2020, GRS2314/A/2021), Fundación Mutua Madrileña (FMM, AP172142019), Sociedad Española de Trombosis y Hemostasia (SETH-FETH; Premio López Borrasca 2019 and Ayuda a Grupos de Trabajo en Patología Hemorrágica 2020 and 2021), Fundación Castellano Leonesa de Hematología y Hemoterapia (FUCALHH 2020), Red Temática de Investigación Cooperativa en Cáncer (RTICC) (RD12/0036/0069), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC CB16/12/00233). Progetti di ricerca di rilevante interesse Nazionale (PRIN 2017Z5LR5Z), and the European Commission (H2020-FETOPEN-1-2016-2017-SilkFusion ID 767309). The author´s research on Inherited Platelet Disorders is conducted in accordance with the aims of the multicentric project “Functional and Molecular Characterization of Patients with Inherited Platelet Disorders” of Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC). A.M.-Q. is fully supported by an “Ayuda predoctoral de la Junta de Castilla y León” by the Fondo Social Europeo (JCYL- EDU/556/2019 PhD scholarship) and received an “Ayuda para breves estancias formativas” from the Sociedad Española de Hematología y Hemoterapia (SEHH-FEHH), and from the Sociedad Española de Trombosis y Hemostasia (SETH-FETH); E.V. is fully supported by an “Ayuda para contratos predoctorales de la Universidad de Salamanca cofinanciadas por el banco Santander,” programa propio III convocatoria 2018; I.S.-G. is supported by a contract from the University of Salamanca cofinanced by the Junta de Castilla y León (Council of Education) and FEDER-European Union [ref. SA0118P20 (2)]; S.S.-M. and C.M.-G. received funding from the European Research Council (ERC) under the ERA-Per-Med programme (ERAPERMED2018-275) SYNtherapy and ISCIII (AC18/00093) cofunded by ERDF/ESF, “Investing in your future”; I.G.-T. and R.B. are supported by a grant from the Universidad de Salamanca (“Contrato postdoctoral Universidad de Salamanca programa propio II, 2019”)Peer reviewe
Anélidos marinos de México y América tropical
Esta obra surge en medio de varias iniciativas compilatorias de las generalidades sobre los anélidos marinos, tales como la serie Handbook of Zoology, el número especial de la revista Diversity, así como la anunciada segunda edición de una obra que cumple 20 años de ser publicada (Polychaetes, ahora con el título Annelids). El presente esfuerzo se dirige a facilitar la identificación de las especies de anélidos en las regiones tropicales del continente americano, con algunas especies de la región templada del litoral occidental del estado mexicano de Baja California. Esta obra resultó del esfuerzo de 45 autores de Brasil, Chile, Colombia, Estados Unidos de América, México y Venezuela; posee un capítulo introductorio con generalidades y claves para las familias del mundo, seguidas de capítulos para 59 familias, además de incorporar contribuciones equivalentes para oligoquetos, hirudos (sanguijuelas) y simpunculos (gusanos cacahuate). En suma, la obra presenta claves para 782 géneros y 3,304 especies, en 1054 páginas. Los capítulos fueron revisados por uno de los editores y por lo menos un árbitro externo, y estos últimos fueron 44 de 12 países diferentes
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