BACKGROUND: The genetic diversity of Mycobacterium tuberculosis in Quito, Ecuador is not well known. OBJECTIVE: To investigate mutations related to drug resistance and bacterial genotypes in M. tuberculosis strains in Ecuador. DESIGN: This was a retrospective study of M. tuberculosis isolates from 104 patients. Isolates were phenotypically resistant to rifampicin (RMP) and/or isoniazid (INH). The genotype was determined using 24-locus mycobacterial interspersed repetitive units-variable-number tandem repeats (MIRU-VNTR). RESULTS: Isolates showed mutations in the rpoB and katG genes, and the inhA promoter. In rpoB, we found 13 genetic alterations at codons 511, 513, 514, 515, 516, 526 and 531. Forty-six (44.2%) RMP-resistant isolates belonged to codon 531. In katG, there were nine genetic alterations at codons 296, 312, 314, 315, 322, 324 and 351. Fifty-three (51%) INH-resistant isolates belonged to codon 315. Five mutations not previously described were identified in katG: Thr324Ser, Thr314Ala, Ala312Pro, Trp351Stop and deleted G at 296 codon. The Latin American Mediterranean (LAM) (33.7%) and Ghana (30.8%) lineages presented most of the main mutations observed. CONCLUSION: This is the first report from Ecuador; it describes five new mutations in katG and indicates that LAM is the most prevalent lineage.

Background: Hemoglobinopathies are among the most studied and frequent pathologies. These genetic disorders are considered a very important health care threat in many tropical countries. Ecuador is a tropical Latin-American country with an important presence of afro-descendants (7.2%). Afro-descendants are among the ethnic groups with higher frequency of hemoglobinopathies reported. Ambuqui is a region within the Imbabura province with an important presence of afro-descendants (>50%). The present study analyzed the frequency of the most common hemoglobin variants in an asymptomatic afro-descendent population using capillary electrophoresis. Findings: From 114 individuals, 25 (22%) reported a hemoglobin variant. All individuals that presented hemoglobin variants were heterozygotes (asymptomatic). Hemoglobin S (sickle cell trait) was the most frequent variant found (14%), followed by hemoglobin E (4.4%), Fetal (2.6%) and C (1%). Conclusion: Prevalence of hemoglobin S was consistent with populations from other countries, but it was lower than other Ecuadorian afro-descendent populations. Frequency of hemoglobin C was lower than other afro-descendent populations. This data suggests the possibility of gene flow from Native American individuals to the Ambuqui population there by lowering the frequency of their hemoglobin variants compared with other afro-descendant populations. Evaluating the frequency of hemoglobinopathies in Ecuadorian populations is essential. Despite the high frequency of these disorders, very few health care facilities implement hemoglobinopathies tests as a routine practice.

Indigenous peoples of America represent the last principal expansion of humans across the globe¹, yet their genetic history remains one of the least explored². Although these populations have inhabited the continent for thousands of years³, their evolutionary history remains largely unresolved^4,5, owing to the limited availability of genomic data. Here we present data on 128 high-coverage Indigenous American genomes and show they harbour extensive and previously uncharacterized genetic diversity, reflecting at least three dispersals into South America, followed by regional differentiation and long-term continuity. We identified widespread natural selection signals in genes associated with immunity, metabolism, reproduction and development, which were shaped by adaptation to diverse environmental conditions. Notably, several genomic regions exhibit a remarkable allele sharing with Australasian populations, probably originating from an ancient admixture event and partly maintained by selection for more than 10,000 years. We also detected distinct contributions from archaic humans with adaptive introgression affecting key biological functions. The limited overlap between the regions of Australasian affinity and archaic ancestry indicates independent evolutionary origins of these signals. These findings challenge simplified models of continental settlements and show a more dynamic and complex evolutionary history for the Indigenous peoples in America.

Aims We describe the presence of Helicobacter pylori (HP) and estimated the prevalence of primary and secondary resistance using molecular detection in gastric biopsies of Ecuadorian patients. Methods and Results A 66.7% (238/357) of the patients demonstrated the presence of HP using CerTest qPCR. Of these 69.79% (104/149) without previous HP eradication treatment and 64.42% (134/208) with prior HP eradication treatment. The mutation-associated resistance rate for clarithromycin was 33.64% (Primary resistance) and 32.82% (Secondary resistance). While that in levofloxacin the primary and secondary resistance was 37.38% and 42%, respectively. For tetracycline and rifabutin, primary and secondary resistance was 0%. Primary and secondary resistance for metronidazole and amoxicillin could not be evaluated by genotypic methods (PCR and sequencing). Conclusions The analysis of mutations in gyrA, 23S rRNA, and 16S rRNA is useful is useful to detect bacterial resistance as a guide for eradication therapy following failure of the first-line regimen. Significance and Impact of Study This study carried out in an Ecuadorian population indicates that the resistance of HP to first-line antibiotics is high, which may contribute to the high rates of treatment failure, and other treatment alternatives should be considered.

Several public health measures have been implemented to contain the SARS-CoV-2 outbreak. The adherence to control measures is known to be influenced by people’s knowledge, attitudes and practices with regard to the disease. This study aimed at assessing COVID-19 knowledge in individuals who were tested for the virus. An online cross-sectional survey of 32 items, adapted to the national context, was conducted among 1656 Ecuadorians. The mean knowledge score was 22.5 ± 3 out of 28, with significant differences being observed with regard to educational attainment. People with postgraduate training scored higher than those with college, secondary and elementary instruction. Indeed, multiple linear regression revealed that lower scores were associated significantly with the latter three levels of education. Interviewees were knowledgeable about the symptoms, detection, transmission and prevention of the disease. However, they were less assertive regarding the characteristics of the virus as well as the usefulness of traditional and unproven treatments. These outcomes indicated a lack of knowledge in fundamental aspects of virus biology, which may limit the effectiveness of further prevention campaigns. Conclusively, educational and communicational programs must place emphasis on explaining the basic molecular characteristics of SARS-CoV-2; such information will certainly contribute to improve the public’s adherence to control measures.

Objectives: to identify differences in mean vitamin D concentrations in samples obtained from a private laboratory in the city of Quito, and to explore their relationship with the pre-pandemic and pandemic periods spanning from 2018 to 2022. Design: A combination of an interrupted time series design and a retrospective cross-sectional approach Setting and participants: The study involved 9,285 participants who had their 25-hydroxyvitamin D (25(OH)D) levels tested at a well-known private laboratory in Quito, Ecuador, from 2018 to 2022. Primary and secondary outcome measures: The 25(OH)D levels were analyzed and assessed for correlations with both age and the year in which the measurements were taken. Results: The mean 25-hydroxyvitamin D (25(OH)D) level was 27.53 ng/mL (± 14.11). Approximately 64.58% of participants had insufficient levels, below 20 ng/mL, and 0.62% showed potential harm from excess 25(OH)D, with levels over 100 ng/mL. The analysis indicated a significant monthly increase of 0.133 units in 25(OH)D levels (p=0.006). However, the period after March 2020, compared to before, saw a non-significant decrease of 1.605 units in mean 25(OH)D levels (p=0.477). Conclusions: The study’s findings indicate a significant prevalence of 25-hydroxyvitamin D (25(OH)D) deficiency, underscoring the necessity for preventative measures. Nevertheless, the rise in cases of vitamin D toxicity is concerning, emphasizing the importance of prudent vitamin D supplement prescriptions and public education against self-medication. For efficient resource allocation and targeting those with higher risks, it may be advantageous to concentrate vitamin D testing on specific population groups.