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1.
J Evol Biol ; 36(7): 1040-1049, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37341128

RESUMEN

Deimatic displays, where sudden changes in prey appearance elicit aversive predator reactions, have been suggested to occur in many taxa. These (often only putative) displays frequently involve different components that may also serve antipredator functions via other mechanisms (e.g., mimicry, warning signalling, body inflation). The Colombian four-eyed frog, Pleurodema brachyops, has been suggested to gain protection against predation through putative deimatic displays where they inflate and elevate the posterior part of their body revealing eye-like colour markings. We exposed stationary artificial frogs to wild predators to test whether the two components (eyespot/colour markings, defensive posture) of their putative deimatic display, and their combination, provide protection from predation without the sudden change in appearance. We did not detect any obvious additive effect of defensive posture and eyespots/colour markings on predation risk, but found a marginally significant trend for model frogs in the resting posture to be less attacked when displaying eyespots/colour markings than when they were not, suggesting that the presence of colour markings/eyespots may provide some protection on its own. Additionally, we found that models in a resting posture were overall more frequently attacked on the head than models in a defensive posture, indicating that a defensive posture alone could help redirect predator attacks to non-vital parts of the body. The trends found in our study suggest that the different components of P. brachyops' coloration may serve different functions during a deimatic display, but further research is needed to elucidate the role of each component when accompanied by sudden prey movement.


Asunto(s)
Mariposas Diurnas , Postura , Animales , Colombia , Conducta Predatoria
2.
Sensors (Basel) ; 23(15)2023 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-37571532

RESUMEN

Infrared thermography (IRT) is a technique used to diagnose Photovoltaic (PV) installations to detect sub-optimal conditions. The increase of PV installations in smart cities has generated the search for technology that improves the use of IRT, which requires irradiance conditions to be greater than 700 W/m2, making it impossible to use at times when irradiance goes under that value. This project presents an IoT platform working on artificial intelligence (AI) which automatically detects hot spots in PV modules by analyzing the temperature differentials between modules exposed to irradiances greater than 300 W/m2. For this purpose, two AI (Deep learning and machine learning) were trained and tested in a real PV installation where hot spots were induced. The system was able to detect hot spots with a sensitivity of 0.995 and an accuracy of 0.923 under dirty, short-circuited, and partially shaded conditions. This project differs from others because it proposes an alternative to facilitate the implementation of diagnostics with IRT and evaluates the real temperatures of PV modules, which represents a potential economic saving for PV installation managers and inspectors.

3.
J Biol Chem ; 294(34): 12836-12845, 2019 08 23.
Artículo en Inglés | MEDLINE | ID: mdl-31292193

RESUMEN

Focal adhesion kinase (FAK) is a central regulator of integrin-dependent cell adhesion and migration and has recently been shown to co-localize with endosomal proteins. The early endocytic protein Rab5 controls integrin trafficking, focal adhesion disassembly, and cell migration and has been shown to be activated upon integrin engagement by mechanisms that remain unclear. Because FAK is a critical regulator of integrin-dependent signaling and Rab5 recapitulates FAK-mediated effects, we evaluated the possibility that FAK activates Rab5 and contributes to cell migration. Pulldown assays revealed that Rab5-GTP levels are decreased upon treatment with a pharmacological inhibitor of FAK, PF562,271, in resting A549 cells. These events were associated with decreased peripheral Rab5 puncta and a reduced number of early endosome antigen 1 (EEA1)-positive early endosomes. Accordingly, as indicated by FAK inhibition experiments and in FAK-null fibroblasts, adhesion-induced FAK activity increased Rab5-GTP levels. In fact, expression of WT FAK and FAK/Y180A/M183A (open conformation), but not FAK/Arg454 (kinase-dead), augmented Rab5-GTP levels in FAK-null fibroblasts and A549 cells. Moreover, expression of a GDP-bound Rab5 mutant (Rab5/S34N) or shRNA-mediated knockdown of endogenous Rab5 prevented FAK-induced A549 cell migration, whereas expression of WT or GTP-bound Rab5 (Rab5/Q79L), but not Rab5/S34N, promoted cell migration in FAK-null fibroblasts. Mechanistically, FAK co-immunoprecipitated with the GTPase-activating protein p85α in a phosphorylation (Tyr397)-dependent manner, preventing Rab5-GTP loading, as shown by knockdown and transfection recovery experiments. Taken together, these results reveal that FAK activates Rab5, leading to cell migration.


Asunto(s)
Movimiento Celular , Quinasa 1 de Adhesión Focal/metabolismo , Proteínas de Unión al GTP rab5/metabolismo , Células A549 , Humanos , Células Tumorales Cultivadas
4.
Genet Med ; 21(12): 2807-2814, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31164752

RESUMEN

PURPOSE: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. METHODS: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. RESULTS: The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20-89% and the top 10 accuracy rate by more than 5-99% for the disease-causing gene. CONCLUSION: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis.


Asunto(s)
Biología Computacional/métodos , Procesamiento de Imagen Asistido por Computador/métodos , Análisis de Secuencia de ADN/métodos , Algoritmos , Bases de Datos Genéticas , Aprendizaje Profundo , Exoma/genética , Femenino , Genómica , Humanos , Masculino , Fenotipo , Programas Informáticos
5.
Fetal Pediatr Pathol ; 37(1): 27-37, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29336649

RESUMEN

BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring. CONCLUSION: When a sharply demarcated linear disruptive craniofacial lesion is observed, DABS should be considered despite the absence of constrictive limb scarring.


Asunto(s)
Síndrome de Bandas Amnióticas/complicaciones , Síndrome de Bandas Amnióticas/patología , Anomalías Craneofaciales/etiología , Anomalías Craneofaciales/patología , Femenino , Humanos , Lactante , Recién Nacido , Masculino
6.
J Therm Biol ; 58: 91-8, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-27157338

RESUMEN

Harlequin frogs (Bufonidae: Atelopus) are among the most threatened frog genus in the world and reach very high elevations in the tropical Andes and the Sierra Nevada de Santa Marta (SNSM). Learning about their thermal ecology is essential to infer sensitivity to environmental changes, particularly climate warming. We report on the activity temperature and thermoregulatory behavior of three high-elevation species of harlequin frogs, Atelopus nahumae, Atelopus laetissimus and Atelopus carrikeri. The first two mentioned live in streams in Andean rain forests, whereas A. carrikeri inhabits paramo streams in the SNSM. We studied the thermal ecology of these species in tree localities differing in altitude, and focused on activity body, operative, substrate and air temperature. A main trend was lower body temperature as elevation increased, so that differences among species were largely explained by differences in substrate temperature. However, this temperature variation was much lower in forest species than paramo species. The Atelopus species included in this work proved to be thermoconformers, a trend that not extended to all congenerics at high elevation. This diversity in thermal ecology poses important questions when discussing the impact of climate warming for high-elevation harlequin frogs. For example, forest species show narrow thermal ranges and, if highly specialized, may be more susceptible to temperature change. Paramo species such as A. carrikeri, in contrast, may be more resilient to temperature change.


Asunto(s)
Bufonidae/fisiología , Altitud , Animales , Conducta Animal , Temperatura Corporal , Regulación de la Temperatura Corporal , Clima , Bosques , Temperatura
7.
bioRxiv ; 2024 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-38328158

RESUMEN

We herein report PageRankeR Gene Ontology (PRRGO), a downloadable web application that can integrate differentially expressed gene (DEG) data from the gene expression omnibus (GEO) GEO2R web tool with the gene ontology (GO) database [1]. Unlike existing tools, PRRGO computes the PageRank for the entire GO network and can generate both interactive GO networks on the web interface and comma-separated values (CSV) files containing the DEG statistics categorized by GO term. These hierarchical and tabular GO-DEG data are especially conducive to hypothesis generation and overlap studies with the use of PageRank data, which can provide a metric of GO term centrality. We verified the tool for accuracy and reliability across nine independent heat shock (HS) studies for which the RNA-seq data was publicly available on GEO and found that the tool produced increasing concordance between study DEGs, GO terms, and select HS-specific GO terms.

9.
J Am Chem Soc ; 134(43): 18132-8, 2012 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-23036087

RESUMEN

UDP-galactopyranose mutase (UGM) plays an essential role in galactofuranose biosynthesis in microorganisms by catalyzing the conversion of UDP-galactopyranose to UDP-galactofuranose. The enzyme has gained attention recently as a promising target for the design of new antifungal, antitrypanosomal, and antileishmanial agents. Here we report the first crystal structure of UGM complexed with its redox partner NAD(P)H. Kinetic protein crystallography was used to obtain structures of oxidized Aspergillus fumigatus UGM (AfUGM) complexed with NADPH and NADH, as well as reduced AfUGM after dissociation of NADP(+). NAD(P)H binds with the nicotinamide near the FAD isoalloxazine and the ADP moiety extending toward the mobile 200s active site flap. The nicotinamide riboside binding site overlaps that of the substrate galactopyranose moiety, and thus NADPH and substrate binding are mutually exclusive. On the other hand, the pockets for the adenine of NADPH and uracil of the substrate are distinct and separated by only 6 Å, which raises the possibility of designing novel inhibitors that bind both sites. All 12 residues that contact NADP(H) are conserved among eukaryotic UGMs. Residues that form the AMP pocket are absent in bacterial UGMs, which suggests that eukaryotic and bacterial UGMs have different NADP(H) binding sites. The structures address the longstanding question of how UGM binds NAD(P)H and provide new opportunities for drug discovery.


Asunto(s)
Aspergillus fumigatus/enzimología , Transferasas Intramoleculares/química , NADP/química , Sitios de Unión , Cristalografía por Rayos X , Activación Enzimática , Transferasas Intramoleculares/genética , Transferasas Intramoleculares/metabolismo , Cinética , Modelos Moleculares , Mutagénesis Sitio-Dirigida , NADP/metabolismo , Oxidación-Reducción
10.
Nanomaterials (Basel) ; 12(12)2022 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-35745287

RESUMEN

TiO2, ZnO, and their combination (TiO2−ZnO) at different molar ratios and pH values (Ti−Zn A and B 3:1, 1:1, and 1:3) via the sol−gel method were characterized by SEM, XRD, UV-Vis, and FT-IR. Moreover, antibacterial tests of the nanoparticles were conducted against Escherichia coli (E. coli), Salmonella paratyphi (S. paratyphi), Staphylococcus aureus (S. aureus), and Listeria monocytogenes (L. monocytogenes). The indirect bandgap of the Ti−Zn binary oxide synthesized in the basic process at molar ratios of 3:1, 1:1, and 1:3 exhibited a higher eV (3.31, 3.30, and 3.19 eV, respectively) compared to pure TiO2 (3.2 eV) and synthesized in the acid process (3.22, 3.29, and 3.19 eV at same molar ratio, respectively); in addition, the results of the indirect bandgap were interesting due to a difference found by other authors. Moreover, the sol−gel method promoted the formation of a spherical, semi-sphere, and semi-hexagonal shape (TiO2, Ti−Zn 1:1, and Ti−Zn 1:3) with a size ≤ 150 nm synthesized during the acid process, with a crystallite size of ~71, ~12, ~34, and ~21 nm, respectively, while ZnO NPs developed a hexagonal and large size (200−800 nm) under the same synthesis process (acid). Samples were classified as TiO2 anatase phase (basic synthesis); however, the presented changes developed in the rutile phase (24% rutile phase) at an acid pH during the synthesis process. Moreover, Ti−Zn maintained the anatase phase even with a molar ratio of 1:3. The most interesting assessment was the antibacterial test; the Ti−Zn A (1:3) demonstrated a bacteriostatic effect compared with all treatments except ZnO, which showed a similar effect in dark conditions, and only Gram-positive bacteria were susceptible (Listeria monocytogenes > Staphylococcus aureus). Therefore, the Ti−Zn characteristic suggests that the results have potential in treating wastewater as well as in pharmaceutical (as drug carriers) and medical applications.

11.
Genet Test Mol Biomarkers ; 26(5): 270-276, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35638908

RESUMEN

Introduction: Hereditary spherocytosis (HS) is a common hereditary hemolytic anemia characterized by chronic hemolysis, increased indirect serum bilirubin, the presence of reticulocytes and spherocytes in blood smears, and great heterogeneity at the clinical, biochemical, and molecular levels. The molecular pathology of HS includes genetic variants at five genes: ANK1, EPB42, SLC4A1, SPTA1, and SPTB. Alpha spectrin (SPTA1) deficiency is the second leading cause of HS in Mexican patients. Aim: To assess the effects of five SPTA1 variants on the hematological phenotype of Mexican patients with HS. Materials and Methods: This study included a retrospective cohort of 227 biologically unrelated patients with HS. Variants c.4339-99C>T and c.6531-12C>T in SPTA1 were identified by the amplification-refractory mutation system polymerase chain reaction (ARMS-PCR), and variants c.5572C>T, c.5992C>G, and c.6794T>C were identified by quantitive Real Time-Polymerase Chain Reaction (qRT-PCR) allelic discrimination. Risk tests were performed for each variant with respect to HS clinical severity. Results: The SPTA1 c.5992C>G variant showed association with moderately severe HS (p = 0.006, odds ratio = 5.67, confidence interval95% = 1.6-19.9); the risk increased when the variant was in compound heterozygosity with αLELY and c.6794T>C. Lower hematological levels were observed in simple αLely (c.5572C>T and c.6531-12C>T), and c.5992C>G heterozygotes (red blood cell [RBC] p = 0.028 and 0.010; hemoglobin [Hb] p = 0.030 and 0.002; packed cell volume [PCV] p = 0.034 and 0.002 respectively), and in c.5992C>G+c.6794T>C compound heterozygotes (RBC p = 0.043; Hb p = 0.033; PCV p = 0.043). Additional genetic traits were observed: 15% had HS+Gilbert syndrome and 13% HS+thalassemia. Conclusion: Although most of the studied variants are considered benign, we observed significant associations with phenotypic severity. Therefore, we recommend the inclusion of these variants in molecular screening for HS.


Asunto(s)
Espectrina , Esferocitosis Hereditaria , Humanos , Proteínas del Citoesqueleto/genética , Heterocigoto , México , Fenotipo , Estudios Retrospectivos , Espectrina/genética , Esferocitosis Hereditaria/diagnóstico , Esferocitosis Hereditaria/genética
12.
Pediatr Neonatol ; 62(4): 354-360, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34112604

RESUMEN

Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently, new clinical characteristics, causes and pathophysiological mechanisms related to microcephaly continue to be identified. Its etiology is varied and heterogeneous, with genetic and non-genetic factors that produce alterations in differentiation, proliferation, migration, repair of damage to deoxyribonucleic acid and neuronal apoptosis. It requires a multidisciplinary diagnostic approach that includes a medical history, detailed prenatal and postnatal clinical evaluation, cerebral magnetic resonance imaging, neuropsychological evaluation, and in some cases complementary tests such as metabolic screening, tests to rule out infectious processes and genetic testing. There is no specific treatment or intervention to increase cerebral growth; however, timely intervention strategies and programs can be established to improve motor and neurocognitive development, as well as to provide genetic counseling. The objective of this work is to review the available information and reinforce the proposal to carry out an etiopathogenic approach for microcephaly diagnosis and management.


Asunto(s)
Microcefalia , Cefalometría , Femenino , Pruebas Genéticas , Humanos , Imagen por Resonancia Magnética , Microcefalia/etiología , Microcefalia/genética , Embarazo
13.
J Tissue Eng Regen Med ; 15(4): 336-346, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33480156

RESUMEN

Histatin-1 is a salivary antimicrobial peptide involved in the maintenance of enamel and oral mucosal homeostasis. Moreover, Histatin-1 has been shown to promote re-epithelialization in soft tissues, by stimulating cell adhesion and migration in oral and dermal keratinocytes, gingival and skin fibroblasts, endothelial cells and corneal epithelial cells. The broad-spectrum activity of Histatin-1 suggests that it behaves as a universal wound healing promoter, although this is far from being clear yet. Here, we report that Histatin-1 is a novel osteogenic factor that promotes bone cell adhesion, migration, and differentiation. Specifically, Histatin-1 promoted cell adhesion, spreading, and migration of SAOS-2 cells and MC3T3-E1 preosteoblasts in vitro, when placed on a fibronectin matrix. Besides, Histatin-1 induced the expression of osteogenic genes, including osteocalcin, osteopontin, and Runx2, and increased both activity and protein levels of alkaline phosphatase. Furthermore, Histatin-1 promoted mineralization in vitro, as it augmented the formation of calcium deposits in both SAOS-2 and MC3T3-E1 cells. Mechanistically, although Histatin-1 failed to activate ERK1/2, FAK, and Akt, which are signaling proteins associated with osteogenic differentiation or cell migration, it triggered nuclear relocalization of ß-catenin. Strikingly, the effects of Histatin-1 were recapitulated in cells that are nonosteogenically committed, since it promoted surface adhesion, migration, and the acquisition of osteogenic markers in primary mesenchymal cells derived from the apical papilla and dental pulp. Collectively, these observations indicate that Histatin-1 is a novel osteogenic factor that promotes bone cell differentiation, surface adhesion and migration, as crucial events required for bone tissue regeneration.


Asunto(s)
Diferenciación Celular , Movimiento Celular , Histatinas/farmacología , Osteogénesis , Animales , Calcificación Fisiológica/efectos de los fármacos , Adhesión Celular/efectos de los fármacos , Diferenciación Celular/efectos de los fármacos , Línea Celular Tumoral , Movimiento Celular/efectos de los fármacos , Células Cultivadas , Humanos , Células Madre Mesenquimatosas/citología , Células Madre Mesenquimatosas/efectos de los fármacos , Células Madre Mesenquimatosas/metabolismo , Ratones , Osteoblastos/citología , Osteoblastos/efectos de los fármacos , Osteoblastos/metabolismo , Osteogénesis/efectos de los fármacos , Transducción de Señal/efectos de los fármacos
14.
Mol Syndromol ; 12(4): 250-257, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34421504

RESUMEN

Sialidosis is a rare autosomal recessive disease that presents with progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by homozygous or compound heterozygous sequence variants in the neuraminidase 1 (NEU1) gene. These sequence variants can lead to sialidosis type I and II; the latter is the most severe and presents prenatally or at early age. However, sialidosis diagnosis is challenging, especially in those health systems with limited resources of developing countries. Consequently, it is necessary to dip into high-throughput molecular diagnostic tools to allow for an accurate diagnosis with better cost-effectiveness and turnaround time. We report a 4-member pedigree segregating an ultrarare missense variant, c.1109A>G; p.Tyr370Cys, in NEU1 as detected by whole-exome sequencing. Two short-lived siblings, who presented with previously unreported clinical features from such a homozygous sequence variant, were diagnosed with sialidosis type II. Additionally, we present a novel molecular model exhibiting the consequences of the variant in the sialidase-1 tridimensional structure. This study allowed us to provide a definitive diagnosis for our patients, increase our understanding of this pathogenic variant, and improve genetic counseling.

15.
Sci Rep ; 10(1): 22302, 2020 12 18.
Artículo en Inglés | MEDLINE | ID: mdl-33339852

RESUMEN

Tumor hypoxia and the hypoxia inducible factor-1, HIF-1, play critical roles in cancer progression and metastasis. We previously showed that hypoxia activates the endosomal GTPase Rab5, leading to tumor cell migration and invasion, and that these events do not involve changes in Rab protein expression, suggesting the participation of intermediate activators. Here, we identified ALS2, a guanine nucleotide exchange factor that is upregulated in cancer, as responsible for increased Rab5-GTP loading, cell migration and metastasis in hypoxia. Specifically, hypoxia augmented ALS2 mRNA and protein levels, and these events involved HIF-1α-dependent transcription, as shown by RNAi, pharmacological inhibition, chromatin immunoprecipitation and bioinformatics analyses, which identified a functional HIF-1α-binding site in the proximal promoter region of ALS2. Moreover, ALS2 and Rab5 activity were elevated both in a model of endogenous HIF-1α stabilization (renal cell carcinoma) and by following expression of stable non-hydroxylatable HIF-1α. Strikingly, ALS2 upregulation in hypoxia was required for Rab5 activation, tumor cell migration and invasion, as well as experimental metastasis in C57BL/6 mice. Finally, immunohistochemical analyses in patient biopsies with renal cell carcinoma showed that elevated HIF-1α correlates with increased ALS2 expression. Hence, this study identifies ALS2 as a novel hypoxia-inducible gene associated with tumor progression and metastasis.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Carcinoma de Células Renales/genética , Factores de Intercambio de Guanina Nucleótido/genética , Subunidad alfa del Factor 1 Inducible por Hipoxia/genética , Esclerosis Amiotrófica Lateral/patología , Animales , Carcinoma de Células Renales/patología , Línea Celular Tumoral , Movimiento Celular/genética , Proliferación Celular/genética , Regulación Neoplásica de la Expresión Génica/genética , Humanos , Ratones , Invasividad Neoplásica/genética , Invasividad Neoplásica/patología , Activación Transcripcional/genética , Hipoxia Tumoral , Proteínas de Unión al GTP rab5/genética
16.
Autoimmunity ; 53(6): 344-352, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32597225

RESUMEN

Blau syndrome (BS) is a rare, chronic autoinflammatory disease with onset before age 4 and mainly characterised by granulomatous arthritis, recurrent uveitis, and skin rash. Sporadic (also known as early-onset sarcoidosis) or familial BS is caused by gain-of-function mutations in the NOD2 gene, which encodes for a multi-task protein that plays a crucial role in the innate immune defense. We report on three Mexican patients clinically diagnosed with BS who exhibited a likely pathogenic variant in NOD2 as revealed by whole-exome sequencing (WES) and Sanger sequencing: two variants (c.1000 C > T/p.Arg334Trp and c.1538 T > C/p.Met513Thr) lie in the ATP/Mg2+ binding site, whereas the other (c.3019dupC/p.Leu1007ProfsTer2) introduces a premature stop codon disrupting the last LRR domain (LRR9) formation; all three variants are consistent with gain-of-function changes. Interestingly, all these patients presented concomitant likely pathogenic variants in other inflammatory disease-related genes, i.e. TLR10, PRR12, MEFV and/or SLC22A5. Although the clinical presentation in these patients included the BS diagnostic triad, overall it was rather heterogeneous. It is plausible that this clinical variability depends partly on the patients' genetic background as suggested by our WES results. After this molecular diagnosis and given the absence of NOD2 mutations (demonstrated in two trios) and related symptoms in the respective parents (confirmed in all trios), patients 1 and 2 were considered to have sporadic BS, while patient 3, a sporadic BS-recurrent polyserositis compound phenotype. Altogether, our observations and findings underscore the overlapping among inflammatory diseases and the importance of determining the underlying genetic cause by high-throughput methods. Likewise, this study further reinforces a pathogenic link between the here found NOD2 variants and BS and envisages potential additive effects from other loci in these, and probably other patients.


Asunto(s)
Artritis/genética , Proteína Adaptadora de Señalización NOD2/genética , Sarcoidosis/genética , Sinovitis/genética , Uveítis/genética , Adolescente , Artritis/inmunología , Niño , Codón sin Sentido , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Dominios Proteicos/genética , Sarcoidosis/inmunología , Sinovitis/inmunología , Uveítis/inmunología , Secuenciación del Exoma
17.
Curr Pharm Teach Learn ; 11(11): 1184-1189, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31783967

RESUMEN

BACKGROUND AND PURPOSE: Transitions of Care (ToC) is an important clinical practice area requiring trained health care professionals, but there is limited literature describing ToC in the didactic curriculum. The purpose of this study was to describe and evaluate a ToC telemedicine simulation activity in a doctor of pharmacy curriculum. EDUCATIONAL ACTIVITY AND SETTING: A one-hour lecture and simulation activity was incorporated into a second-year course. Student teams participated in discharge and telemedicine encounters with standardized patients (SPs). Six medication-related problems (MRPs) were incorporated into the activity. Activity documents were collected to identify student competency. FINDINGS: Fifty-nine student pharmacists in 16 teams participated. All teams accurately identified five of the six MRPs. Fourteen teams (87.5%) accurately identified the sixth MRP after completion of the telemedicine encounter. Six teams (62.5%) completed the discharge medication list accurately and completely. All teams provided medication education, and 93.8% (n = 15) of teams identified follow-up was needed. Ten teams utilized effective interview sequence and structure during both encounters. Activity challenges included resources, financial support and SP training. SUMMARY: Case-based learning and the use of simulation has good evidence supporting its use in education. Utilizing these techniques to reinforce concepts may be a beneficial way for students to be trained effectively to deliver impactful ToC services.


Asunto(s)
Educación en Farmacia/métodos , Conciliación de Medicamentos/estadística & datos numéricos , Transferencia de Pacientes/métodos , Telemedicina/instrumentación , Competencia Clínica , Curriculum , Humanos , Alta del Paciente/normas , Simulación de Paciente , Pautas de la Práctica en Medicina , Estudiantes de Farmacia
18.
J Periodontol ; 90(7): 766-774, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30690743

RESUMEN

BACKGROUND: Zoledronic acid, the most frequent agent associated with bisphosphonate-related osteonecrosis of the jaw (BRONJ), has been reported as cytotoxic for bone and vascular cells. Hence, identification of novel approaches aiming to counteract its cytotoxic effects will be desirable to develop preventive therapies for BRONJ. The salivary peptide Histatin-1 was recently shown to promote oral wound healing, by acting in epithelial and endothelial cells; however, its effects on cells exposed to zoledronic acid have not been explored. This study aims to unveil the role of Histatin-1 in osteoblastic and vascular cell lineages challenged with zoledronic acid. METHODS: The effects of zoledronic acid (1-100 µM), Histatin-1 (10 µM), or their combination was evaluated in cytotoxicity (Trypan Blue exclusion) and cell migration (Boyden Chamber) assays. Caspase-3 cleavage was evaluated by Western blot. The angiogenic capacity of endothelial cells was assessed in a tubule formation assay in vitro. RESULTS: Zoledronic acid decreased cell viability and migration of osteosarcoma cells (SAOS-2) and preosteoblasts (MC3T3-E1), in a dose-response manner. Importantly, Histatin-1 restored both cell viability and migration in both cell lines upon challenge with zoledronic acid. These effects were recapitulated in endothelial cells (EA.hy926), as Histatin-1 counteracted cytotoxic and antimigratory effects of zoledronic acid, and restored the angiogenic capacity in vitro. CONCLUSION: We conclude that Histatin-1 counteracts the cytotoxic and antimigratory effects of zoledronic acid in osteoblast-like and endothelial cells. These observations highlight the potential use of Histatin-1, in the design of novel therapies aiming to prevent and treat BRONJ.


Asunto(s)
Conservadores de la Densidad Ósea , Ácido Zoledrónico , Difosfonatos , Células Endoteliales , Histatinas , Imidazoles , Osteoblastos
19.
Rev. argent. cir ; 116(2): 146-151, jun. 2024.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1565219

RESUMEN

RESUMEN Los cambios en la educación desafían a los profesores sobre cómo enseñar de la mejor manera y mejorar el desempeño de sus estudiantes. En el caso de la cirugía es necesario adquirir habilidades manuales que reflejen el pensamiento crítico y la capacidad de tomar decisiones en situaciones complejas, de manera rápida y eficaz. Así, la inteligencia artificial (IA) es una nueva herramienta que puede mejorar el desempeño de los estudiantes de grado y posgrado, así como repercutir en mejores desenlaces clínicos. El papel que debe desempeñar la enseñanza tradicional y el futuro de la enseñanza quirúrgica son cuestiones para resolver.


ABSTRACT Educational changes present a challenge for teachers in terms of how to effectively teach and enhance student performance. Surgery demands manual dexterity that reflects critical thinking and the ability to make efficient decisions quickly in complex situations. Artificial Intelligence (AI) is a tool that can enhance the performance of both undergraduate and graduate students and improve clinical outcomes. The role of traditional teaching and the future of surgical education need to be addressed.

20.
PLoS One ; 14(5): e0215349, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31067224

RESUMEN

Ikakogi is a behaviorally and morphologically intriguing genus of glassfrog. Using tadpole morphology, vocalizations, and DNA, a new species is described from the Sierra Nevada de Santa Marta (SNSM), an isolated mountain range in northern Colombia. The new taxon is the second known species of the genus Ikakogi and is morphologically identical to I. tayrona (except for some larval characters) but differs by its genetic distance (14.8% in mitochondrial encoded cytochrome b MT-CYB; ca. 371 bp) and by the dominant frequency of its advertisement call (2928-3273 Hz in contrast to 2650-2870 Hz in I. tayrona). They also differ in the number of lateral buccal floor papillae, and the position of the buccal roof arena papillae. Additionally, the new species is differentiated from all other species of Centrolenidae by the following traits: tympanum visible, vomerine teeth absent, humeral spines present in adult males, bones in life white with pale green in epiphyses, minute punctuations present on green skin dorsum, and flanks with lateral row of small, enameled dots that extend from below eye to just posterior to arm insertion. We describe the external and internal larval morphology of the new species and we redescribe the larval morphology of Ikakogi tayrona on the basis of field collected specimens representing several stages of development from early to late metamorphosis. We discuss the relevance of larval morphology for the taxonomy and systematics of Ikakogi and other centrolenid genera. Finally, we document intraspecific larval variation in meristic characters and ontogenetic changes in eye size, coloration, and labial tooth-rows formulas, and compare tadpoles of related species. Ikakogi tayrona has been proposed as the sister taxon of all other Centrolenidae; our observations and new species description offers insights about the ancestral character-states of adults, egg clutches, and larval features in this lineage of frogs.


Asunto(s)
Anuros/anatomía & histología , Animales , Anuros/genética , Anuros/crecimiento & desarrollo , Tamaño Corporal , Colombia , Citocromos b/genética , ADN/genética , ADN/metabolismo , Femenino , Larva/anatomía & histología , Larva/fisiología , Masculino , Óvulo/fisiología , Pigmentación de la Piel
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