Introduction. The EDAR (ectodysplasin A receptor) gene is associated with the development of ectodermal structures. The rs3827760 variant is highly frequent in East Asian and Native American populations, and this study a...Introduction. The EDAR (ectodysplasin A receptor) gene is associated with the development of ectodermal structures. The rs3827760 variant is highly frequent in East Asian and Native American populations, and this study analyzes its relationship with genetic ancestry proportions in a Latin American population sample. Objective. To analyze how genetic ancestry proportions influence the distribution of single nucleotide polymorphism (SNP) rs3827760 genotypes of the EDAR gene in Latin American populations. Materials and methods. Genetic ancestry proportions were estimated using a panel of 446 ancestry-informative SNPs, applying the STRUCTURE program and univariate and multivariate logistic regression models. Results. Native American ancestry proportions showed a significant positive association with the prevalence of rs3827760 GG genotypes, while European ancestry showed a negative association. Conclusion. Native American and European genetic ancestry proportions influence the distribution of SNP rs3827760 genotypes of the EDAR gene in Latin American populations.
Introduction. The factors affecting genetic diversity and antiretroviral therapy resistance mutations in human immunodeficiency virus (HIV) type 1 in military personnel are unknown. Objective. To describe the factors aff...Introduction. The factors affecting genetic diversity and antiretroviral therapy resistance mutations in human immunodeficiency virus (HIV) type 1 in military personnel are unknown. Objective. To describe the factors affecting genetic variability and resistance to HIV antiretrovirals in the military population during one year of follow-up. Materials and methods. Fifty-two Peruvian military personnel living with HIV and receiving antiretroviral therapy were recruited. Genetic diversity, genetic subtypes, recombination events, and resistance profile occurring in protease and reverse transcriptase genes were compared at 12 and 18 month follow-up, taking into account the socio-epidemiological characteristics of the participants. Results. Intermittent condom use (37%), contact with sex workers (17%) and a history of sexually transmitted infections (56%) were observed. The genetic diversity index (π) increased from 0.30 to 0.45, while genetic subtypes and recombinant forms did not change significantly. Of eleven samples with significant nucleotide changes, five showed resistance mutations. Finally, bivariate analysis showed that increasing subject age was significantly associated with a difference in resistance profile after an interval of 12 months or more. Conclusions. We show that, after at 12 and 18 month of follow-up, HIV-infecting a population of Peruvian military subjects underwent changes in its genetic diversity and resistance profile, which were associated with the chronological age of the participants.
INTRODUCTION: Congenital syphilis is a preventable disease with high morbidity and mortality, whose persistence reflects failures within the healthcare system. OBJECTIVE: To characterize reports of congenital syphilis in...INTRODUCTION: Congenital syphilis is a preventable disease with high morbidity and mortality, whose persistence reflects failures within the healthcare system. OBJECTIVE: To characterize reports of congenital syphilis in Antioquia in the years 2021 and 2022 and to analyze their relationship with gestational age at the time of birth and diagnosis. MATERIALS AND METHODS: A descriptive, retrospective, cross-sectional study was conducted. All reported cases of congenital syphilis in Antioquia during 2021 and 2022 were analyzed using data from the Instituto Nacional de Salud. Sociodemographic, clinical, and healthcare-related variables from the epidemiological surveillance form were described. Frequencies, summary measures and statistical tests were applied to explore associations. RESULTS: A total of 375 cases of congenital syphilis were reported, with incidences of 2.9 and 2.3 per 1000 live births in 2021 and 2022, respectively. A total of 54.4% (204/375) of the mothers were of low socioeconomic status, and 86.7% (325/375) of diagnoses occurred in the third trimester. Additionally, 46.4% (174/375) of mothers did not receive prenatal care, and 17.6% (66/375) did not receive penicillin before delivery. Gestational age at delivery was significantly associated with the neonate’s final condition (p < 0.001), prenatal care (p < 0.001), treatment (p < 0.05), and maternal-infant serological outcomes (p < 0.05). CONCLUSIONS: Congenital syphilis remains a public health concern in Antioquia, reflecting deficiencies in timely diagnosis and comprehensive treatment, as well as the influence of social determinants such as low socioeconomic status. Consequently, it is essential to strengthen primary healthcare services, ensure early and continuous prenatal screening, and implement territory-specific strategies aimed at reducing vertical transmission and advancing toward the elimination of the disease.
Introduction. The municipality of Ovejas, located in the Los Montes de María region, is an endemic focus of leishmaniasis and reports sporadic cases of Chagas disease. Although Didelphis marsupialis (the common opossum)...Introduction. The municipality of Ovejas, located in the Los Montes de María region, is an endemic focus of leishmaniasis and reports sporadic cases of Chagas disease. Although Didelphis marsupialis (the common opossum) is recognized as a rural reservoir of trypanosomatids in Colombia, its role in this area remains unknown. Objective. To evaluate the natural infection frequency of Leishmania spp. and T. cruzi in D. marsupialis with Leishmania spp. and T. cruzi from peridomestic environments in Ovejas. Materials and methods. Between August and October 2015, opossums were captured in urban areas using Tomahawk live traps. After morphometric evaluation, sex determination, and dental count, blood samples were obtained via cardiac puncture. These simples were used to detect IgG antibodies against Leishmania spp. and T. cruzi, amplify parasit especific genetic targets, and perform in vitro isolation. Results. A total of 26 individuals were captured (12 males and 14 females; 16 adults, 7 subadults, and 3 juveniles). Antibody prevalence was 23,08% for Leishmania and 53,85% for T. cruzi, with 11.54% co-infection. Molecular infection frequency was 61.54% for T. cruzi and 23,08% for Leishmania spp. One T. cruzi strain was successfully isolated and genotyped. Conclusion. The high frequencies of single infection and co-infection suggest that D. marsupialis may act as a synanthropic host for Leishmania spp. and T. cruzi in Ovejas, indicating its potential role in maintaining domestic cycles of urban transmission.
Introduction. Despite the obligation to provide priority and timely care to people with orphan diseases, they continue to find barriers to health services. Objective. To determine access to health services barriers for p...Introduction. Despite the obligation to provide priority and timely care to people with orphan diseases, they continue to find barriers to health services. Objective. To determine access to health services barriers for people diagnosed with orphan or rare diseases. Materials and methods. We carried out a cross-sectional analytical study based on secondary data of 134 people reported with orphan or rare diseases in the department of Huila. Sociodemographic and clinical characterization and identification of barriers to access to health services at the geographic, economic, social, knowledge, cultural and health care levels were carried out. Statistical analysis was performed in Stata 15™ using measures of central tendency and association. Results. The median age was 15 years, 51.5% were male, 61.9% lived in urban areas, low income predominated, the most prevalent diagnosis was Guillain-Barré síndrome and 32.8% required hospitalization for complications of the disease. Living in rural areas presents a greater probability of having limited access to the center of care (OR = 10.7; 95% CI: 4.3-27) and lack of money for transportation (OR = 2.84; 95% CI: 1.26-6.52). Statistical association between subsidized regime and non-delivery of medicines (OR = 4.59; 95% CI: 1.44-19.17) was found. Conclusion. Participants face significant barriers to accessing health services associated with living in rural areas and their affiliation status.
INTRODUCTION: Strongyloides stercoralis infection can develop into a severe and lifethreatening condition in high-risk groups, such as alcoholics. However, few studies assess the effect of these comorbidities on patients...INTRODUCTION: Strongyloides stercoralis infection can develop into a severe and lifethreatening condition in high-risk groups, such as alcoholics. However, few studies assess the effect of these comorbidities on patients’ health. OBJECTIVE: To evaluate hematological, biochemical and hepatic biomarkers and the production of total immunoglobulin E in alcoholic patients infected with S. stercoralis. MATERIALS AND METHODS: This was a case-control study involving 240 alcoholic patients, 60 infected and 180 non-infected with S. stercoralis. Evaluation of blood biomarkers was performed using automated methods, commercial kits, or nephelometry. RESULTS: A high frequency of low hemoglobin content was observed among alcoholics, but there was no significant difference between the infected and non-infected groups, 65.0% (39/60) and 62.8% (113/180), respectively. The frequency of eosinophilia, 58.3 % (35/60) and 26.1% (47/180) and the total immunoglobulin E concentration, 2882 and 1400 IU/ml, were significantly higher (p < 0.05) in S. stercoralis-infected than in non-infected individuals. ALT and AST levels were high in both groups compared to the reference values. However, the infected group presented lower AST levels, 61.5 ± 38.4 and 84.3 ± 84.6 U/L, and a lower frequency of individuals with high ALT levels, 26.7% (16/60) and 40.5% (73/180), respectively (p < 0.05). Moreover, AST levels were higher in individuals with a parasite load above 100 larvae/g of feces compared to those with less than 10 larvae/g of feces, 90.80 ± 39.9 and 56.42 ± 31.9 U/L (p < 0.05), respectively. A similar result was found for ALT. CONCLUSIONS: This study showed fewer alterations in liver enzyme levels in S. stercoralis infected alcoholic patients compared to non-infected alcoholic patients, an effect that may depend on the parasite load.
Introduction. Recombination is a mechanism that prevents the accumulation of noxious mutations. Recombination occurs between different sublineages of the same virus that are co-circulating and co-infecting the same host....Introduction. Recombination is a mechanism that prevents the accumulation of noxious mutations. Recombination occurs between different sublineages of the same virus that are co-circulating and co-infecting the same host. Next-generation sequencing technologies have allowed the identification of recombinant sublineages of omicron. Objective. To describe how viral recombination in new omicron lineages has conferred important characteristics to this variant and allowed its prevalence. Materials and methods. A total of 338 genomes of recombinant lineages from positive samples of SARS-CoV-2 analyzed by the Laboratorio Departamental de Salud Pública de Antioquia were characterized, between November 9, 2022, and November 5, 2023. The genomes were obtained using Oxford Nanopore™ sequencing technology. Phylogenetic analysis identified different recombinant sublineages of omicron and predictors allowed the identification of regions in the SARS-CoV-2 genome that were the product of recombination events. Results. Twenty-six recombinant lineages of omicron were identified, and important amino acid changes were found involved in evasion of the immune response, infectivity and increased viral replication, N501Y, D614G and P681H. The F456L variant was also identified and was present in 55% of the XBB.1.5.72 genomes and is a biomarker for recognition of this sublineage. The analysis with recombination predictors allowed the identification of the potential parents of some recombinant genomes such as XBB.1.5 and XBB.1.5.77. Conclusion. The circulation of omicron sublineage recombinants shows important changes that impact their biology and have altered infection and virulence factors.
This article offers a vision of the mental health situation in Colombia, highlighting its growing relevance in the public sphere and the specific challenges facing the country. It analyzes the impact of the armed conflic...This article offers a vision of the mental health situation in Colombia, highlighting its growing relevance in the public sphere and the specific challenges facing the country. It analyzes the impact of the armed conflict and the COVID-19 pandemic on the mental health of the Colombian population, focusing on how these situations have exacerbated pre-existing problems. Additionally, the existence of significant barriers to accessing specialized services is highlighted, such as stigma, lack of trained personnel, and high costs associated with the treatment of mental disorders. Therefore, the need to address inequalities in mental health care is raised, both nationally and internationally. Finally, recommendations are proposed to improve prevention, community care and access to mental health services in Colombia.
Is avoidable childhood mortality in Colombia a type of violence? Childhood analysis mortality requires a broader approach than a purely biological one, as this situation reflects the confluence of social, environmental,...Is avoidable childhood mortality in Colombia a type of violence? Childhood analysis mortality requires a broader approach than a purely biological one, as this situation reflects the confluence of social, environmental, economic, and political factors, among others, which portray the vulnerability of this population group. At the global level, efforts to control mortality have yielded significant achievements; however, low- and middle-income countries still show high and uneven figures across regions, related primarily to violence as a latent phenomenon. The objective of this essay was to reflect on childhood mortality as a form of indirect violence. In conclusion, avoidable childhood mortality needs to be analyzed from a political perspective that allows for the identification of the different forms of violence portrayed in this event. Consequently, it can be stated that avoidable childhood mortality as a form of violence requires analysis from an intersectoral and multidisciplinary approach that enables the prioritization of actions to control it.
Hereditary spastic paraplegias are genetic disorders characterized by spasticity in the lower limbs, weakness, and sensory disturbances. Global prevalence ranges from 1.27 to 9.6 per 100 000 individuals. Mutations in the...Hereditary spastic paraplegias are genetic disorders characterized by spasticity in the lower limbs, weakness, and sensory disturbances. Global prevalence ranges from 1.27 to 9.6 per 100 000 individuals. Mutations in the PLP1 gene cause various X-linked hereditary spastic paraplegias phenotypes, including Pelizaeus-Merzbacher disease and spastic paraplegia type 2. A 53-year-old male presented with chronic lower limb weakness since childhood, requiring a wheelchair at age 47 and exhibiting zero strength in the lower limbs. Magnetic resonance imaging revealed periventricular leukodystrophy; similar symptoms were found in maternal uncles and a nephew. The 32-year-old nephew had gait difficulties. A genetic sequencing panel identified a hemizygous variant of uncertain significance in the PLP1 gene [c.197A>T (p.His66Leu)] in both, not reported in population genetic databases. X-linked spastic paraplegia 2 is a disease primarily affecting gait and causing lower limb weakness. Reports indicate that it may also include cognitive impairment, nystagmus, and ataxia, although in the studied family, weakness predominated without cerebellar symptoms. Thirty-six families with this condition have been documented worldwide, with cases of asymptomatic carrier females. The c.197A>T (p.His66Leu) variant in the PLP1 gene, identified in this case, is novel and, despite being classified as "of uncertain significance", could be pathogenic according to bioinformatic predictors, explaining the spastic paraplegia 2 presentation in this family.
Dengue is the most common arboviral infection worldwide, and up to 5% of patients may develop severe forms with multiorgan involvement and an increased risk of death. We present the case of a 39-year-old woman from an en...Dengue is the most common arboviral infection worldwide, and up to 5% of patients may develop severe forms with multiorgan involvement and an increased risk of death. We present the case of a 39-year-old woman from an endemic area, living in an urban setting, who presented with five days of fever associated with myalgias and vaginal bleeding. On admission, severe thrombocytopenia and acute hepatic and renal dysfunction were documented. Despite initial treatment with crystalloids, her condition progressively worsened, leading to acute liver failure and worsening acute kidney injury, requiring invasive mechanical ventilation, vasopressor support, and single-pass albumin dialysis plus continuous veno-venous hemodiafiltration. The patient showed clinical improvement with progressive recovery of liver and kidney function and was transferred to general hospitalization after 12 days in intensive care. This case highlights the potential usefulness of this therapy in patients with acute liver failure in settings without access to advanced liver support systems or when liver transplantation is contraindicated.
The neuroblastoma-like schwannoma is considered a very rare variant of schwannoma, and represents a diagnostic challenge given its low incidence and few reports. We present the case of a 40-year-old woman with a painful...The neuroblastoma-like schwannoma is considered a very rare variant of schwannoma, and represents a diagnostic challenge given its low incidence and few reports. We present the case of a 40-year-old woman with a painful nodule with progressive growth in the anterior thoracic wall. After histopathological and immunophenotypic analysis, and a literature case review, with emphasis in the differential diagnosis and immunohistochemical analysis, the diagnosis of neuroblastoma-like schwannoma was made.
HIV infection is a risk factor for the development of cardiovascular diseases including ischemic strokes, for which there are different multiple etiologies in these patients. We present the case of a 27-year-old man with...HIV infection is a risk factor for the development of cardiovascular diseases including ischemic strokes, for which there are different multiple etiologies in these patients. We present the case of a 27-year-old man with AIDS, with an ischemic stroke in the left middle cerebral artery territory. Laboratory studies confirmed the diagnosis of neurosyphilis but also the existence of antiphospholipid antibodies. Seven months after the treatment of neurosyphilis, anticoagulation and antiretroviral therapy, the persistence of antiphospholipid antibodies was confirmed. The diagnostic approach to a vascular stroke in people with HIV is a challenge since there may be multiple etiologies. The relevance of antiphospholipid antibodies in these patients is a matter of debate and should be considered depending on the clinical scenario.
Multiple sclerosis is the most prevalent demyelinating disease affecting the central nervous system. In the past two decades, significant milestones have been achieved in this domain, including the identification of crit...Multiple sclerosis is the most prevalent demyelinating disease affecting the central nervous system. In the past two decades, significant milestones have been achieved in this domain, including the identification of critical immunological pathways, novel biomarkers, and effective immunotherapies. Nonetheless, several areas of uncertainty and challenges persist. Globally, there has been a notable increase in multiple sclerosis cases. In Colombia, recent studies indicate a rise in prevalence from fewer than 5 cases per 100 000 inhabitants to 7.5 cases per 100 000. It is imperative for neurologists to stay informed about current treatments to offer appropriate guidance to these patients. This review analyzes eight pertinent controversies surrounding multiple sclerosis, and other demyelinating diseases, based on the most current scientific evidence. Topics explored include: 1) prevention of postpartum relapses, 2) neuromyelitis optica spectrum disorder, 3) the role of genetic testing in diagnosis, 4) risks of malignancy associated with immunotherapy, 5) discontinuation of treatment in older adults, 6) management strategies for lymphopenia, 7) what is the indication for stem cell therapy in multiple sclerosis? and 8) approaches to mitigate rebound effects after discontinuing disease-modifying therapy. Each controversy is supported by a thorough analysis and practical recommendations aimed at informing decision-making in daily clinical practice and adapting to the realities of countries like ours, where advancements in neurological training and access to treatments are crucial.
INTRODUCTION: Ivermectin has shown potent activity against various nematodes. OBJECTIVE: Evaluation of the efficacy of ivermectin against Toxocara canis larvae. MATERIALS AND METHODS: In vitro assessment was conducted us...INTRODUCTION: Ivermectin has shown potent activity against various nematodes. OBJECTIVE: Evaluation of the efficacy of ivermectin against Toxocara canis larvae. MATERIALS AND METHODS: In vitro assessment was conducted using larval migration inhibition test and scanning electron microscopy (SEM). In vivo, ivermectin was administered orally to mice at a single 0.2 mg/kg dose at 2 (group I), 7 (group II), or 15 days (group III) post-infection. Efficacy was evaluated through brain larval counts and histopathological examination of liver and brain. RESULTS: In vitro, ivermectin at concentrations of 10 μg/ml and 100 μg/ml inhibited larval migration by 8.5% and 87%, respectively. SEM showed cuticular damage after 24 and 48 hours with 100 μg/ml ivermectin. In vivo, brain larval counts significantly decreased in groups I and II (22.67 ± 5.41 and 37.17 ± 5.98), with no significant reduction in group III (130.5 ± 9.01). Histopathology of the liver at four weeks post-infection in groups I and II revealed numerous granulomas with degenerated larvae. The brain showed a marked reduction in larval presence and inflammation in groups I and II, while group III findings were similar to those of the control group. CONCLUSION: Ivermectin is effective against T. canis larvae during early migratory stages but shows limited efficacy against late-stage larvae.
INTRODUCTION: A second hematopoietic stem cell transplant is required when the first transplant fails, usually due to relapse or graft failure, and is associated with increased morbidity and mortality. Survival rates ran...INTRODUCTION: A second hematopoietic stem cell transplant is required when the first transplant fails, usually due to relapse or graft failure, and is associated with increased morbidity and mortality. Survival rates range from 74 to 82% in non-neoplastic diseases and from 39 to 58% in neoplastic conditions. Evidence on second hematopoietic stem cell transplant in children is limited, particularly in low- and middle-income countries. OBJECTIVE: To describe the clinical characteristics, complications, and outcomes of children who underwent a second transplant at a high-complexity center between 2012 and 2024. MATERIALS AND METHODS: Case series study with descriptive and survival analysis using the Kaplan-Meier method in Stata 14™. RESULTS: A total of 346 allogeneic transplants were performed, of which 20 patients underwent a second transplant. Of these, 17 received a haploidentical donor for their second transplant, and the primary indication was a neoplastic disease in 13 cases. The second transplant was performed due to graft failure in 11 of the 20 patients, and due to relapse in the remaining 9. The mean age was 10.7 ± 5 years, with a male predominance (14 out of 20). Haploidentical transplants accounted for 16 of the 20 cases, and 11 used the same donor. The most common complications were acute graft-versus-host disease in 7 cases, 2 of grade III, cytomegalovirus infection in 10 cases, and graft failure after the second transplant in 4 cases: 3 primary, 1 secondary. Transplant-related mortality was 31%. The 2-year overall survival was 54%, with a median follow-up of 11 months. CONCLUSIONS: Second hematopoietic stem cell transplant is a viable therapeutic option when no other alternatives are available, particularly in resource-limited settings.
INTRODUCTION: Mesenchymal stem cells have great therapeutic potential due to their antiinflammatory, anti-apoptotic and pro-angiogenic effects through their secretome. Wharton’s gelatin is one of the best sources of mese...INTRODUCTION: Mesenchymal stem cells have great therapeutic potential due to their antiinflammatory, anti-apoptotic and pro-angiogenic effects through their secretome. Wharton’s gelatin is one of the best sources of mesenchymal stromal stem cells; their secretome is rich in bioactive molecules with the ability to maintain cellular and tissue homeostasis for the treatment of pathologies such as inflammation, skin wounds, neurodegenerative disorders, and diabetes. OBJECTIVE: To describe a protocol for obtaining conditioned media from mesenchymal stromal stem cells isolated from Wharton’s jelly through dynamic cell cultures, considering that 3D systems offers advantages over 2D by better replicating the conditions of the cellular microenvironment in vivo. MATERIALS AND METHODS: The mesenchymal stromal stem cells obtained were characterized in vitro: their immunophenotype by flow cytometry and their multipotency by induction of differentiation to mesenchymal lineages. The stem cells were grown in 2D monolayer cultures and 3D cultures, in a 3L Applikon Biotechnology bioreactor using plastic microbeads as microcarriers. Obtention of the conditioned media was standardized and 43 angiogenic factors were detected, using an antibody microarray system for human angiogenesis. RESULTS: Isolated cells showed typical characteristics of mesenchymal stromal stem cells. 3D cultures facilitated scalability and improved secretion of angiogenic factors compared to 2D cultures. CONCLUSIONS: The secretome was obtained with 2D and 3D cultures. Significantly larger volumes of conditioned medium with a potentially increased angiogenic capacity were obtained with 3D cultures.