Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.

Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with low socioeconomic status, and other vulnerable populations. The Rio Grande Valley at the Texas-Mexico border is predominantly Hispanic with a high poverty rate and an increased prevalence of birth defects, with very limited access to genetics services. The cost of a diagnosis is often times out of reach for these underserved families. Funded by the National Center for Advancing Translational Sciences (NCATS), Project GIVE (Genetic Inclusion by Virtual Evaluation) was launched in 2022 to shorten the time to diagnosis and alleviate healthcare inequities in this region, with the goal of improving pediatric health outcomes. Methods: Utilizing Consultagene, an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform, we designed the study to recruit 100 children with rare diseases over a period of two years from this region, through peer-to-peer consultation and referral. Conclusions: Project GIVE study has allowed advanced genetic evaluation and delivery of genome sequencing through the virtual portal, effectively circumventing the recognized socioeconomic and other barriers within this population. This paper explores the successful community engagement process and implementation of an alternate genomics evaluation platform and testing approach, aiming to reduce the diagnostic journey for individuals with rare diseases residing in a medically underserved region.

Chitosan hydrogel synthesis to remove arsenic and fluoride ions from groundwater.

Groundwater samples from eight deep drinking water wells that cover three aquifers in Chihuahua City, northern Mexico, were fully characterized. Water is naturally contaminated with arsenic, fluoride, and uranium, according to the Environmental Protection Agency (EPA) and local standards. The results from the Geochemist's Workbench (GWB) program revealed that the minerals in equilibrium with the groundwater were calcite and dolomite, while others, such as fluoride, schoepite, rutherfordite and K(UO2)(AsO4), were also dissolved. The hydrogeochemical characterization of water samples indicates that they were sodium bicarbonate-type water samples at neutral to slightly alkaline pH (7.6-8.3). A batch equilibrium sorption procedure was implemented using natural groundwater, a synthesized chitosan network (net-CS) and a chitosan binary network grafted with N-vinylcaprolactam/N-N-dimethylacrylamide (net-CS)-g-NVCL/DMAAm hydrogels. Isotherms and kinetics sorption tests were evaluated. The adsorption capacity of net-CS hydrogels for As ions was 0.0022 mg/g and F ions 0.15 mg/g after 50 h. Scanning electron microscopy coupled with energy-dispersive spectroscopy (SEM-EDS) was used to investigate the hydrogel surface before and after the sorption process, and TGA was used to evaluate the stability of the adsorbents. Freundlich adsorption isotherm constants for As and F ions indicate heterogeneous sorption and the mechanism of retention by physisorption.

Exploratory study on the presence of bisphenol A and bis(2-ethylhexyl) phthalate in the Santa Catarina River in Monterrey, N.L., Mexico.

The current problem related to the supply of drinking water for the metropolitan area of Monterrey, which comprises of five million inhabitants, and the important role played by the El Cuchillo Dam, found downstream of the Santa Catarina River basin as a surface source of drinking water for the city, renders this river an interesting site for assessment. This work evaluates the degree to which the surface water and the subsoil of the river are affected by emerging organic pollutants due to their existence, even at low concentrations, representing a toxic risk enhanced by the absence of stricter standards for regulating these substances. Based on fieldwork, three discharge points that could affect the quality of the surface water were selected: two points on the river stream, and three groundwater wells. Gas chromatography results showed the presence of BisPhenol A (BPA) and bis(2-EthylHexyl) Phthalate (DEHP) in both the surface water and subsoil at different seasons of the year. The highest concentration levels in the samples taken from both types of water were 0.9 and 60 µg L-1 for BPA and DEHP, respectively. Results of this research did not reveal the level at which the aquifer is affected by these substances.

A comparison of two scar massage protocols in pediatric burn survivors.

The current evidence to support the use of massage for scar management is conflicting in the literature. The purpose of this study was to compare two scar massage protocols administered with pediatric burn survivors to determine if a more structured and standardized approach to scar massage could improve outcome. A retrospective review of the medical records of 100 children who received massage during the time period when two different protocols were implemented was conducted and data that was collected as part of the clinical exam regarding scar height, vascularity, pliability, itch and pain were extracted. Comparisons were made within subject for scar changes from baseline to follow up and between subjects receiving Protocol A and those receiving Protocol B for the same scar characteristics. Versions of the Vancouver Scar Scale were used to assess scars, while visual analogue scale, Itch Man Scale and Wong-Baker Faces Pain Scale were used to assess itch and pain. Results demonstrated improvements in itch and vascularity over time with both scar massage protocols. However, when comparing patients who received Protocol A to those who received Protocol B, there was no difference found in scar height, vascularity, pliability, itch or pain. Using commonly applied subjective scar assessment tools, we did not find clinically meaningful changes in scar characteristics with the implementation of a structured scar massage program compared to a general approach to massage. Further research is needed to better define the impact of massage on the recovery experience for burn survivors.

Relación entre neumotórax espontáneo y factores meteorológicos / Relationship between spontaneous pneumotorax and meteorological factors

En el presente trabajo se realiza una correlación estadística para demostrar la influencia de los factores meteorológicos en la presentación de neumotórax espontáneo. Se recoge la fecha de presentación de neumotórax espontáneo de 211 pacientes que ingresaron por esta afección y se realiza una regresión entre esta serie y las variables meteorológicas recogidas en la estación de Casablanca. Se utiliza un programa de regresión paso a paso y se concluye que la presión atmosférica tiene cierta relación con la presentación de neumotórax espontáneo (AU)