ABSTRACT
Giardia lamblia (G. lamblia) is the main causative agent of diarrhea worldwide, affecting children and adults alike; in the former, it can be lethal, and in the latter a strong cause of morbidity. Despite being considered a predominant disease in low-income and developing countries, current migratory flows have caused an increase in giardiasis cases in high-income countries. Currently, there is a wide variety of chemotherapeutic treatments to combat this parasitosis, most of which have potentially serious side effects, such as genotoxic, carcinogenic, and teratogenic. The necessity to create novel treatments and discover new therapeutic targets to fight against this illness is evident. The current review centers around the controversial nucleolus of G. lamblia, providing a historical perspective that traces its apparent absence to the present evidence supporting its existence as a subnuclear compartment in this organism. Additionally, possible examples of ncRNAs and proteins ubiquitous to the nucleolus that can be used as targets of different therapeutic strategies are discussed. Finally, some examples of drugs under research that could be effective against G. lamblia are described.
ABSTRACT
Alopecia Areata (AA) is a multifactorial, dermatological disease characterized by non-scarring hair loss. Alterations in candidate genes, such as HR (Hairless), could represent a risk factor for its development. The aim of this study was to search for and analyze variants in exons 3, 15 and 17 of the HR gene in Mexican patients with AA. A total of 30 samples from both AA patients and healthy donors were analyzed in this study. Exons were amplified and sequenced using the Sanger method. Descriptive statistics and χ2 tests were used in the analysis of clinical-demographic characteristics and the comparison of allelic/genotypical frequencies between groups, respectively. The effect on protein function for the non-synonymous variants was determined with three bioinformatics servers. Three gene variants were identified in the HR gene of the evaluated patients. The benign polymorphism c.1010G > A p.(Gly337Asp) (rs12675375) had been previously reported, whereas the variants c.750G > A p.(Gln250Gln) and c.3215T > A (Val1072AGlu) have not been described in other world populations. Both non-synonymous variants proved to be significant (p ≤ 0.05). The variant c.3215T > A p.(Val1072Glu) is of particular interest due to its deleterious effect on the structure and function of the protein; therefore, it could be considered a risk factor for the development of AA.
ABSTRACT
HOX genes have been associated with carcinogenesis. However, the molecular mechanism by which tumors are generated remains unclear. The HOXC13 and HOXD13 genes are of interest for their involvement in the development of genitourinary structures. The aim of this first study in the Mexican population was to search for and analyze variants in the coding region of the HOXC13 and HOXD13 genes in women with cervical cancer. Samples from Mexican women with cervical cancer and healthy women were sequenced (50/50). Allelic and genotypic frequencies were compared between groups. The functional impact of the proteins was determined with two bioinformatics servers (SIFT and PolyPhen-2), and the oncogenic potential of the identified nonsynonymous variants was determined using the CGI server. We identified five unreported gene variants: c.895C>A p.(Leu299Ile) and c.777C>T p.(Arg259Arg) in the HOXC13 gene and c.128T>A p.(Phe43Tyr), c.204G>A p.(Ala68Ala), and c.267G>A p.(Ser89Ser) in the HOXD13 gene. In this study, we suggest that the non-synonymous variants c.895C>A p.(Leu299Ile) and c.128T>A p.(Phe43Tyr) could represent a risk factor for the development of the disease, although additional studies in larger patient populations and in different ethnic groups are needed in order to support the results observed.
Subject(s)
Genes, Homeobox , Uterine Cervical Neoplasms , Female , Humans , Base Sequence , Homeodomain Proteins/genetics , Transcription Factors/genetics , Uterine Cervical Neoplasms/geneticsABSTRACT
Resumen Coronavirus 19 (COVID-19), es una enfermedad viral prevalente y diseminada a nivel mundial, considerada una pandemia con alta tasa de mortalidad. A la fecha no existen estudios que describan la influencia de las variables asociadas a la enfermedad en el estado fronterizo de Tamaulipas, México. El objetivo del presente estudio fue evaluar y analizar las características, complicaciones, tasas de letalidad y factores de riesgo asociados a mortalidad en paciente positivos a COVID-19 en el estado de Tamaulipas, a un año de la emergencia local. Se utilizó la frecuencia de casos observados en relación a características, complicaciones y comorbilidades para estimar prevalencias y tasas de letalidad. Se ajustó un modelo de regresión logística multivariada para estimar los factores de riesgo significativos y se utilizaron curvas de supervivencia de Kaplan-Meier para describir las comorbilidades más importantes. Los análisis indicaron una mayor infección en pacientes en edad productiva, con una probabilidad significativa de muerte a partir de los 40 años, más evidente en pacientes masculinos. Los riesgos asociados a la hospitalización, como intubación endotraqueal y neumonía, son factores muy importantes. Las comorbilidades con alta prevalencia (diabetes, hipertensión y obesidad) y enfermedad renal crónica (ERC) están asociados significativamente (P < 0.01) a mayor mortalidad por COVID-19 en pacientes positivos. El presente estudio demostró algunos patrones generales de prevalencia y tasas de letalidad por COVID-19, por lo que se sugieren particularidades en los factores asociados a mortalidad en la población de Tamaulipas que requieren atención en sus grupos vulnerables, sobre todo en posibles casos de rebrotes de la enfermedad.
Abstract Coronavirus 19 (COVID-19) is a prevalent and globally disseminated viral disease that has become a pandemic associated with a high case fatality rate. To date, there are no published studies that describe the influence of the variables associated with the disease, specifically in the border state of Tamaulipas, Mexico. The objective of the present study was to assess the characteristics, complications, fatality rates and risk factors associated to mortality in patients positive to COVID-19 in Tamaulipas, one year after the local emergency. Descriptive frequency of characteristics, complications for prevalence and case fatality rates were used. A multivariate logistic regression model was adjusted to estimate the meaningful risk factors, and Kaplan-Meier survival curves were used to describe the most important comorbidities. The analysis indicated higher infection rates in patients of productive age, with a significant death probability in male patients from the age of 40. The risks associated with hospitalization, such as endotracheal intubation and the presence of pneumonia are important risk factors. Comorbidities with high prevalence; diabetes, hypertension, obesity, and chronic kidney disease (CKD) were significantly associated (P < 0.01) with higher COVID-19 mortality risk in the assessed population. The present study demonstrated some COVID-19 general patterns on frequency and mortality rates. It also suggested particularities in factors associated to mortality in the Tamaulipas population, which require proper attention in vulnerable groups, especially in future outbreaks of the disease.
ABSTRACT
BACKGROUND: human chitotriosidase is a secreted enzyme by activated macrophages, detectable in plasma. Levels of chitotriosidase indicate severity of Gaucher disease and monitoring the efficiency of the enzyme replacement therapy. The most frequent polymorphism in chitotriosidase-1 gene (CHIT1) corresponds to a 24-bp duplication (24-bp Dup) that in homozygotes individuals gives place to the enzyme inactivation. The objective was to identify in a sample of Mexican health population the 24-bp Dup in CHIT1 gene and determinate the allelic and genotypic frequencies. METHODS: 306 DNA samples of healthy individuals were analyzed in polyacrylamide gels and the allelic and genotypic frequencies was determined with SPSS v. 13.0. RESULTS: distribution of the 24-bp Dup was in accordance to Hardy-Weinberg equilibrium (p = 0.90), with an allelic frequency of 23.86 %. Genotypic frequencies for homozygous and hetero-zygotes were of 5.56 % and 36.60 % respectively. CONCLUSIONS: allelic and genotypic frequencies of the 24-bp Dup in CHIT1 gene in homozygotes and heterozygotes were in accordance to worldwide reports.
