Modelo de estudio de dos informativas familias colombianas con síndrome de usher

Establecer y evaluar un modelo de abordaje para el estudio del Síndrome de Usher, que abarca el diagnóstico clínico de los pacientes, establecimiento y confirmación del subtipo mediante estudios moleculares y posterior correlación genotipo-fenotipo

Estudio epidemiológico del síndrome de waardenburg en colombia

Ampliar los conocimientos clínicos y genéticos sobre el Síndrome de Waardenburg (WS), definiendo la frecuencia de los tipos de síndrome y su distribución geográfica en la población sorda colombiana

The effect of temperature and enzyme concentration in the transesterification process of synthetic microalgae oil

Throughout the world, the fossil fuel has supplied around the 80% of the energetic requirements, in Colombia alone 95.1% of energetic demand is made by the transportation sector solely, supplied by oil, kerosene, gasoline and diesel, this sector has an extremely small participation with biofuel of 3%, which is represented only by biodiesel. Microalgae had been proposed as biofactories with a remarkable third generation biofuels production. The culture of the microorganism comprehends interesting characteristics as countless environments where its natural growth could be replicated in fresh, salty and even sewage waters, with a higher growth rate and a higher oil production. The implementation of enzymes in the transesterification process have generated a good curiosity in the field, due to its mild reactions conditions, lesser energetic requirements, a high standard in the selection of the enzymes with the objective of avoiding the formation of soaps, creating in this way cleaner products and sub-products, in which the separation of the phases biodiesel/glycerol, give the possibility to recuperate the bio catalyzer and high output of reactions. However, the high volume of medium required to obtain lipids is one of the major drawbacks to test the viability of these enzymes. The present study aims to design an enzymatic transesterification process for the production of biodiesel form synthetic Chlorella oil. The synthetic oil was designed according to the lipid profile of C 16:0, C16:1, C18:0, C18:1, C18:2 and C18:3 from Chlorella spp CHL2 cultured on Bold Basal media under limited concentrations of NaNO3. The enzymatic transesterification efficiency was evaluated by the implementation of a 22 experimental factorial design (temperature and lipase concentration) under a 3: 1 molar ratio of alcohol:oil and a fixed reaction time of 6 hours. The obtained results show that, in order to obtain superior yields of biodiesel (>91%) the transesterification process must be carried out under temperature conditions close to 38°C and lipase concentrations of 5%

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in individuals homozygous, or compound heterozygous for these deletions or one such deletion and a mutation in GJB2. Recently, we have demonstrated that the del(GJB6-D13S1830) deletion contributes to hearing loss due to an allele-specific lack of GJB2 mRNA expression and not as a result of digenic inheritance, as was postulated earlier. In the current study we investigated the smaller del(GJB6-D13S1854) deletion, which disrupts the expression of GJB2 at the transcriptional level in a manner similar to the more common del(GJB6-D13S1830) deletion. Interestingly, in the presence of this deletion, GJB2 expression remains minimally but reproducibly present. The relative allele-specific expression of GJB2 was assessed by reverse-transcriptase PCR and restriction digestions in three probands who were compound heterozygous for a GJB2 mutation and del(GJB6-D13S1854). Each individual carried a different sequence variant in GJB2. All three individuals expressed the mutated GJB2 allele in trans with del(GJB6-D13S1854), but expression of the GJB2 allele in cis with the deletion was almost absent. Our study clearly corroborates the hypothesis that the del(GJB6-D13S1854), similar to the larger and more common del(GJB6-D13S1830), removes (a) putative cis-regulatory element(s) upstream of GJB6 and narrows down the region of location

Study protocol for the multicentre cohorts of Zika virus infection in pregnant women, infants, and acute clinical cases in Latin America and the Caribbean: The ZIKAlliance consortium

Background: The European Commission (EC) Horizon 2020 (H2020)-funded ZIKAlliance Consortium designed a multicentre study including pregnant women (PW), children (CH) and natural history (NH) cohorts. Clinical sites were selected over a wide geographic range within Latin America and the Caribbean, taking into account the dynamic course of the ZIKV epidemic. Methods: Recruitment to the PW cohort will take place in antenatal care clinics. PW will be enrolled regardless of symptoms and followed over the course of pregnancy, approximately every 4 weeks. PW will be revisited at delivery (or after miscarriage/abortion) to assess birth outcomes, including microcephaly and other congenital abnormalities according to the evolving definition of congenital Zika syndrome (CZS). After birth, children will be followed for 2 years in the CH cohort. Follow-up visits are scheduled at ages 1-3, 4-6, 12, and 24 months to assess neurocognitive and developmental milestones. In addition, a NH cohort for the characterization of symptomatic rash/fever illness was designed, including follow-up to capture persisting health problems. Blood, urine, and other biological materials will be collected, and tested for ZIKV and other relevant arboviral diseases (dengue, chikungunya, yellow fever) using RT-PCR or serological methods. A virtual, decentralized biobank will be created. Reciprocal clinical monitoring has been established between partner sites. Substudies of ZIKV seroprevalence, transmissio

Modelo de estudio de dos informativas familias colombianas con Síndrome de Usher

Establecer y evaluar un modelo de abordaje para el estudio del Síndrome de Usher, que abarca el diagnóstico clínico de los pacientes, establecimiento y confirmación del subtipo mediante estudios moleculares y posterior correlación genotipo-fenotipo

Temperature Dependent Charge Carrier Dynamics in Formamidinium Lead Iodide Perovskite

The fundamental opto-electronic properties of organic-inorganic hybrid perovskites are strongly affected by their structural parameters. These parameters are particularly critical in formamidinium lead iodide (FAPbI3), in which its large structural disorder leads to a non-perovskite yellow phase that hinders its photovoltaic performance. A clear understanding of how the structural parameters affect the opto-electronic properties is currently lacking. We have studied the opto-electronic properties of FAPbI3 using microwave conductivity measurements. We find that the mobility of FAPbI3 increases at low temperature following a phonon scattering behavior. Unlike methylammonium lead iodide (MAPbI3), there are no abrupt changes after the low-temperature β/γ phase transition and the lifetime is remarkably long. This absence of abrupt changes can be understood in terms of the reduced rotational freedom and smaller dipole moment of the formamidinium, as compared to methylammonium.ChemE/Opto-electronic Material

Influencia de fuentes de fosfato inorgánico en la expresión de proteínas de una cepa bacteriana solubilizadora de fosfato nativa de La Comarca Lagunera

The aim of this work was to identify the proteins involved in solubilization of inorganic phosphates (Pi) of Klebsiella aerogenes and to evaluate the solubilization capacity of Pi under the influence of different carbon (C) and nitrogen (N) sources of bacteria isolated from La Comarca Lagunera. Method Eihgt strains, isolated from La Comarca Lagunera forage crops and conserved in glycerol at -20° C, were used. The Solubilization Index (SI) was determined in solid medium PVK and the solubilization of Pi was quantified in liquid medium with different C, N and Phosphorus (P) sources. Bacteria with highest capacity to solubilize phosphate was identified by molecular methods. For protein expression studies, bacterial cultures were done by duplicate in two Pi sources {(calcium phosphate (CP) and aluminum phosphate (AP)} using PVK liquid medium. Proteins were precipitated with trichloroacetic acid (TCA), quantified with BCATM Protein assay kit and run on 12 % polyacrylamide gel. A tryptic digestion was done and the peptides obtained were analyzed by HPLC-mass spectrometry. Proteins and their function were identified with bioinformatic tools. Results K. aerogenes showed the greatest capacity to solubilize CP (2.31 y 2.59) in solid medium PVK with Glucose (G)-Urea (U), G-Ammonium Nitrate (AN) respectively, CP (1.97 ppm) and AP (1.36 ppm) in PVK liquid medium with G-U. Two hundred sixteen proteins were identified in both bacterial cultures, among which were found ABC transporter, Pho kinase histidine and Phosphate-specific transport system accessory protein Pho U, involved with the use of P. Discussion or Conclusion The sources of C y N influence the solubilization capacity of Pi in native bacteria from La Comarca Lagunera. The best solubilization results were found when G and U were in the medium as source of C and N respectively. Under the conditions in this study, K. aerogenes did not express unique proteins to solubilize FC and FA. The expression levels of some proteins were different in some identified proteins.El presente trabajo tuvo como objetivo identificar las proteínas implicadas en la solubilizacion de fosfatos inorgánicos (Pi) en Klebsiella aerogenes y evaluar la capacidad de solubilizacion de Pi bajo la influencia de fuentes de carbono (C) y nitrógeno (N) en bacterias aisladas de la Comarca Lagunera. Método Se trabajó con ocho cepas bacterianas aisladas de cultivos forrajeros de La Comarca Lagunera y conservadas en glicerol a -20 °C. Se determinó el Índice de Solubilización (IS) en medio sólido Pikovskaya (PVK) y se cuantificó la solubilización de Pi en medio líquido con diferentes fuentes de C, N y fósforo (P). Se realizó una identificación molecular de la cepa que presentó la mayor capacidad para solubilizar el Pi. Para los estudios de expresión de proteínas, se realizaron cultivos bacterianos por duplicado con dos diferentes fuentes de Pi {(fosfato de calcio (FC) y fosfato de aluminio (FA)} en medio líquido PVK. Se llevó a cabo una precipitación de proteínas con ácido tricloroacético (TCA) y una cuantificación con BCATM Protein assay kit. Las proteínas se corrieron en gel de poliacrilamida al 12%, se realizó una digestión con la enzima tripsina y se analizaron los péptidos obtenidos por HPLC-espectrometría de masas. La identificación de la función de las proteínas se llevó a cabo mediante el uso de herramientas bioinformáticas. Resultados K. aerogenes fue la bacteria que presentó una mayor capacidad para solubilizar FC (2.31 y 2.59) en medio sólido PVK Glucosa (G)-Urea (U) y G- Nitrato de Amonio (NA) respectivamente, FC (1.97 ppm) y FA (1.36 ppm) en medio líquido PVK U-G. En los cultivos bacterianos se identificaron doscientas dieciséis proteínas entre las cuales se encontraron: ABC transportadoras, histidina quinasa Pho, proteína del sistema de transporte específico de fosfato Pho U, involucradas con el aprovechamiento del P. Discusión o Conclusión Las fuentes de C y N influyen en la capacidad de solubilización de Pi en bacterias nativas de La Comarca Lagunera. Los mejores resultados de solubilización se presentaron cuando la G se encontraba en el medio como fuente de C y la U como fuente de N. Bajo las condiciones de experimentación, no se observaron proteínas únicas de K. aerogenes para solubilizar el FC y FA. Se observó únicamente diferencias en el nivel de expresión de algunas proteínas identificadas

Estudios citogenéticos y moleculares en una población sorda institucionalizada con síndrome de waardenburg en colombia

El Síndrome de Waardenburg (WS) es un desorden autosómico dominante caracterizado por sordera neurosensorial y anormalidades pigmentarias en la piel y faneras. Es clínica y genéticamente heterogéneo y ha sido dividido en 4 subtipos. Según la presencia o ausencia de distopia cantorum (desplazamiento lateral del canto interno de los ojos), se subdividen en WS 1 (gen PAX 3) y WS 2 (gen MITF), respectivamente