Biomedica : revista del Instituto Nacional de Salud最新文献

{"title":"New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia","authors":"Nicolás Laverde-Sudupe, Ángela Lizeth Giraldo-Serna, Diana Ramírez-Montaño, Julián Ramírez-Cheyne, Wilmar Saldarriaga-Gil","doi":"10.7705/biomedica.7733","DOIUrl":"10.7705/biomedica.7733","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"203-210"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strongyloides stercoralis infection alters liver enzyme levels in alcoholic patients","authors":"Joelma Nascimento de Souza, Weslei Almeida Costa Araújo, Alex Bruno De Souza, Márcia Cristina Aquino Teixeira, Neci Matos Soares","doi":"10.7705/biomedica.7735","DOIUrl":"10.7705/biomedica.7735","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Objective: </strong>To evaluate hematological, biochemical and hepatic biomarkers and the production of total immunoglobulin E in alcoholic patients infected with S. stercoralis.</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"246-253"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ischemic cerebrovascular accident in an HIV patient: Neurosyphilis and antiphospholipid syndrome","authors":"Sebastián Ayala, María Del Mar Ortiz, María Carolina Vásquez","doi":"10.7705/biomedica.7830","DOIUrl":"10.7705/biomedica.7830","url":null,"abstract":"<p><p>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.\u0000We 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.\u0000The 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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"179-186"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13521504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroblastoma-like schwannoma: Case report with histopathologic correlation","authors":"Diana Caicedo, Natalia Rodríguez, Rafael Vélez, Reinhard Rodríguez, Rodrigo Restrepo","doi":"10.7705/biomedica.7416","DOIUrl":"10.7705/biomedica.7416","url":null,"abstract":"<p><p>The neuroblastoma-like schwannoma is considered a very rare variant of schwannoma, and represents a diagnostic challenge given its low incidence and few reports.\u0000We 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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"187-194"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13541277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Avoidable mortality in childhood in Colombia: A type of violence","authors":"Ángela María Hoyos-Quintero, Alejandra María Díaz-Tamayo, Herney Andrés García-Perdomo","doi":"10.7705/biomedica.7910","DOIUrl":"10.7705/biomedica.7910","url":null,"abstract":"<p><p>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.\u0000The 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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"211-218"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13557799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-infection by Leishmania spp. and Trypanosoma cruzi in Didelphis marsupialis (Mammalia: Didelphimorphia) from urban areas of Ovejas, Colombia","authors":"Jorge Luis Rodríguez, Alveiro Pérez, Matilde Rivero, Carolina Ayala, Luis Gregorio Estrada, Samanta Cristina Das Chagas, Eduar Elías Bejarano","doi":"10.7705/biomedica.7827","DOIUrl":"10.7705/biomedica.7827","url":null,"abstract":"<p><p>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.\u0000Objective. 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.\u0000Materials 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.\u0000Results. 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.\u0000Conclusion. 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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"270-289"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of recombinant genomes of the omicron variant of SARS-CoV-2 between 2022 and 2023 in the department of Antioquia, Colombia","authors":"Cristian Arbey Velarde, Leila Cristina Vega, Idabely Betancur","doi":"10.7705/biomedica.7698","DOIUrl":"10.7705/biomedica.7698","url":null,"abstract":"<p><p>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.\u0000Objective. To describe how viral recombination in new omicron lineages has conferred important characteristics to this variant and allowed its prevalence.\u0000Materials 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.\u0000Results. 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.\u0000Conclusion. The circulation of omicron sublineage recombinants shows important changes that impact their biology and have altered infection and virulence factors.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"228-245"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is mental health in Colombia a right or a privilege?","authors":"Martha Escobar, Álvaro Arenas, Camilo Perdomo-Luna, Darío Londoño, Juan Carlos Molano, María Nieto, Elizabeth Borrero, Esteban Vanegas","doi":"10.7705/biomedica.7429","DOIUrl":"10.7705/biomedica.7429","url":null,"abstract":"<p><p>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.\u0000Therefore, 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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"219-227"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13585439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare diseases in Colombia: Current situation and ideas for a better future","authors":"Luis Alejandro Barrera","doi":"10.7705/biomedica.8507","DOIUrl":"10.7705/biomedica.8507","url":null,"abstract":"","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"175-178"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic diversity and antiretroviral resistance of human immunodeficiency virus type 1 in Peruvian military personnel during one year of follow-up","authors":"Jonathan Guerrero, Dilan Suárez, Carlos Augusto Yabar","doi":"10.7705/biomedica.7970","DOIUrl":"10.7705/biomedica.7970","url":null,"abstract":"<p><p>Introduction. The factors affecting genetic diversity and antiretroviral therapy resistance mutations in human immunodeficiency virus (HIV) type 1 in military personnel are unknown.\u0000Objective. To describe the factors affecting genetic variability and resistance to HIV antiretrovirals in the military population during one year of follow-up.\u0000Materials 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.\u0000Results. 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.\u0000Conclusions. 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.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"46 2","pages":"303-323"},"PeriodicalIF":0.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}