Biomedica : revista del Instituto Nacional de Salud最新文献

{"title":"Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function","authors":"Valeria Valerio-Gómez, Uriel Pérez-Blanco, Guillermo Velázquez-Sámano, Andrea Aída Velasco-Medina, Antonio Albarrán, Itzel Yoselín Sánchez, Laura Berrón-Ruiz, Sara Espinosa-Padilla, Lizbeth Blancas-Galicia","doi":"10.7705/biomedica.7521","DOIUrl":"10.7705/biomedica.7521","url":null,"abstract":"<p><p>STAT1 is a cytoplasmic transcription factor associated with cell growth regulation, differentiation, proliferation, metabolism, and apoptosis. IFN-mediated JAK/STAT signaling pathway is involved in eliminating intracellular pathogens and viruses.\u0000However, pathogenic variants in STAT1 can result in impaired or increased function. Increased activity or function in STAT1 was described in 2011 and is characterized by excessive phosphorylation of the transcription factor. Carriers can develop autoimmune and inflammatory diseases and are susceptible to fungal, viral, and bacterial infections. The early and common manifestation is chronic mucocutaneous candidiasis.\u0000Here, we report a clinical case of a patient with increased STAT1 activity or gain of function, which started in the first year of his life. He is currently 27 years old and has presented bacillus Calmette-Guérin and Mycobacterium tuberculosis infection, chronic mucocutaneous candidiasis, tinea capitis, and facial and ocular rosacea. HIV infection was ruled out.\u0000Given the clinical manifestations, an inborn error of immunity was suspected, specifically STAT1 with gain of function. The diagnosis was corroborated by the sequencing of multiple genes associated with inborn errors of immunity. The pathogenic variant c.961A>G (p.Arg321Gly) in the STAT1 gene, previously reported as a gain of function mutation, was found in the patient.\u0000Finally, this case illustrates that mutations in immune-associated genes can contribute to producing severe and recurrent infections, even in adult patients. Chronic mucocutaneous candidiasis should raise suspicion of gain of function in STAT1.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"22-30"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019550","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":"Clinical outcomes of pediatric patients with congenital toxoplasmosis in a fourthlevel center Introduction. Congenital","authors":"Sebastián Posada-Bustos, Ana Cristina Mariño, Eugenia Espinosa-García","doi":"10.7705/biomedica.7206","DOIUrl":"10.7705/biomedica.7206","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital toxoplasmosis is a highly prevalent parasitic disease worldwide, with a high burden of disease and neurodevelopmental involvement in pediatric patients.</p><p><strong>Objective: </strong>To describe the clinical sequelae and neurodevelopmental state of pediatric patients with congenital toxoplasmosis at the Hospital Militar Central during 2013 to 2020.</p><p><strong>Materials and methods: </strong>We conducted an observational, descriptive, cross-sectional study with an analytical component, including pediatric patients diagnosed with congenital toxoplasmosis. Patients consulted the Hospital Militar Central from January 2013 to December 2020. The Ages and Stages Questionnaires 3 neurodevelopmental scale was applied to children under six years old.</p><p><strong>Results: </strong>Forty-five patients with confirmed congenital toxoplasmosis were included, with a mean age of 5.9 years; 60% were male; 11.2 % were symptomatic at birth, and 33% presented chorioretinitis. During the follow-up, 73% presented ophthalmologic sequelae, 64% cerebral calcifications, 4.4% hydrocephalus, 11.2% cerebral palsy, and 13.4% focal epilepsy. In children under six years old, 58% presented neurodevelopmental compromise, and in those over six years old, 62% had cognitive deficits. In this cohort, 68% of the patients received posnatal treatment, with a statistically significant association between not receiving treatment and ophthalmological sequelae (OR = 5.2; p < 0.001).</p><p><strong>Conclusions: </strong>Congenital toxoplasmosis is associated with important long-term sequelae similar to those described in several Latin American series. These findings highlight the importance of early diagnosis, evaluation, treatment, and timely interdisciplinary follow-up of patients in our country to improve their prognosis.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"496-509"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635512","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":"Concordance between clinical diagnoses and autopsies anatomopathological findings at a tertiary-level university hospital.","authors":"Julieth Alexandra Franco, Mario Miguel Barbosa, Cesar Redondo","doi":"10.7705/biomedica.7097","DOIUrl":"10.7705/biomedica.7097","url":null,"abstract":"<p><strong>Introduction: </strong>A clinical autopsy is a fundamental diagnostic tool for confirming the diagnosis of diseases of public health interest. However, the clinical-pathological concordance has not been evaluated.</p><p><strong>Objective: </strong>To determine the concordance between clinical diagnoses and anatomopathological findings from autopsies conducted at a tertiary-level hospital institution.</p><p><strong>Materials and methods: </strong>A descriptive, observational, cross-sectional, and retrospective study where we analyzed autopsy cases performed between 2015 and 2019. The variables studied were age, gender, origin, and clinical and anatomopathological diagnoses.</p><p><strong>Results: </strong>The concordance degree was slight (κ = 0.30; 95% CI: 0.21-0.42), which coincides with internationally reported findings in healthcare institutions with a similar patient population and availability of diagnostic resources. The clinical-pathological discrepancy, as evidenced according to the Goldman et al. classification, then modified by Battle et al., was 57.3% (47/82), corresponding to major discrepancies, a value within the expected limits.</p><p><strong>Conclusions: </strong>The concordance between clinical diagnoses and anatomopathological findings in autopsies is slight, and the discrepancies are within the expected range. This study highlights the importance of improving clinical and syndromic diagnosis of public health interest.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"486-495"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635525","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":"Knowledge, attitudes, and practices towards rabies: A preliminary cross-sectional appraisal in Colombia.","authors":"Samir Meriño-Olivella, María Del Pilar Sánchez-Bonilla, Daniel Camilo Aguirre-Acevedo, Nathalia M Correa-Valencia","doi":"10.7705/biomedica.7161","DOIUrl":"10.7705/biomedica.7161","url":null,"abstract":"<p><strong>Introduction: </strong>Rabies virus infection can cause fatal brain disease in mammals. Any species is susceptible to infection. Any effort aimed at recognizing infected animals and performing first actions in the event of transmission is mandatory.</p><p><strong>Objective: </strong>To determine knowledge, attitudes, and practice profiles regarding rabies, or hydrophobia, in a municipality of Colombia, using a multiple correspondence analysis.</p><p><strong>Materials and methods: </strong>A descriptive observational study involving 71 pet owners was carried out in the municipality of Ibagué (Tolima). A questionnaire-based survey collected data on rabies knowledge, attitudes, practices, and demographic information. The survey was conducted between October and November 2021, and the data analysis involved descriptive statistics and multiple correspondence analysis.</p><p><strong>Results: </strong>The study revealed a commendable level of rabies awareness among the urban residents in the study municipality. However, there are causes of concern as they allow stray animals to enter their homes and are not aware of the importance of notifying dead animals. The respondents demonstrated a humane approach to bite management and emphasized the importance of wound cleaning. Additionally, they expressed a strong desire for more information to enhance their knowledge and awareness of the disease.</p><p><strong>Conclusion: </strong>The findings of this study provide valuable insights for improving rabies prevention efforts and promoting public health. Health education, evidence-based strategies, and community participation are essential for successful disease control and educational gaps addressing related to sociocultural factors.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"468-485"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635563","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":"Disseminated herpes simplex virus infection in pregnancy","authors":"Aida Oliveros, Paula Andrea Fonseca, Carlos Andrés Pérez, Javier Mauricio González","doi":"10.7705/biomedica.7362","DOIUrl":"10.7705/biomedica.7362","url":null,"abstract":"<p><p>Herpes simplex virus (HSV) types 1 and 2 produce the most common sexually transmitted infection in women, with a higher incidence reported in developing countries. When the first infection occurs during the perinatal period, it can spread, resulting in high morbidity and mortality of the mother and child, in addition to mainly neurological sequelae in the newborn.\u0000Despite having reliable laboratory tests, the diagnosis of herpes simplex virus infection in this population is complex since the clinical presentation ranges from asymptomatic or with non-specific symptoms without lesions on the skin or mucous membranes. For this reason, a high clinical suspicion is necessary.\u0000Here, we present the case of a mother with disseminated herpes simplex virus type 2 infection with viral hepatitis and fetal death, highlighting the importance of suspecting the diagnosis in febrile women with systemic compromise during the perinatal period, even in the absence of rash.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"460-467"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635538","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":"Factores asociados al tratamiento no exitoso para tuberculosis en pacientes previamente tratados en Cali, Colombia, en el periodo 2015 -2019. Biomédica, 2023;43360-73. https://doi.org/10.7705/biomedica.6961","authors":"Heidy Natalia Urrego, Robinson Pacheco, José F Fuertes-Bucheli, Liddy Varela, Jimena Ortiz","doi":"10.7705/biomedica.7747","DOIUrl":"10.7705/biomedica.7747","url":null,"abstract":"","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"575-578"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635548","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":"Determination of prion proteins in the diagnosis of Creutzfeldt-Jakob disease using RT-QuIC: A case report from northeastern Colombia","authors":"Jairo Lizarazo, Aixa Xiomara Vargas, Rafael Olarte, David Andrés Lizarazo","doi":"10.7705/biomedica.7352","DOIUrl":"10.7705/biomedica.7352","url":null,"abstract":"<p><p>Creutzfeldt-Jakob disease is a rare neurodegenerative disease caused by prions. We present the case of a woman in the seventh decade of life with rapidly progressive dementia and myoclonus. Her brain magnetic resonance imaging revealed lesions in the basal nuclei, and the electroencephalogram showed periodic bilateral epileptiform discharges. In the cerebrospinal fluid, the prion protein was detected using the real-time quaking-induced conversion test (RT-QuIC), and elevated levels of tau and 14-3-3 proteins. We emphasize the significance of determining the prion protein in the definitive diagnosis of this disease.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"434-440"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635532","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":"Genomics in parasitology: Accomplishments and challenges","authors":"Concepción Puerta","doi":"10.7705/biomedica.7746","DOIUrl":"10.7705/biomedica.7746","url":null,"abstract":"","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"429-433"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11655123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635559","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":"Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition","authors":"Alexander Reyes, Julieth Galvis, Yilver Estupiñán","doi":"10.7705/biomedica.7370","DOIUrl":"10.7705/biomedica.7370","url":null,"abstract":"<p><p>Septo-optic dysplasia is a congenital neurological condition with multifactorial etiology, characterized by septum pellucidum agenesis and/or corpus callosum dysgenesis, hypoplasia of the chiasm or optic nerves, and hormonal dysfunction with pituitary or hypothalamic alterations. Diagnosis requires two of these criteria and magnetic resonance is the imaging test of choice. Most cases present with abnormalities of cortical development in the form known as septo-optic dysplasia plus. While seizures and neurodevelopmental disorders are the dominant neurological manifestations, this entity is highly heterogeneous and has multiple clinical and radiological findings to consider.\u0000We present the case of a 35-year-old man with a history of cranioencephalic trauma in childhood and remission for refractory focal epilepsy associated with cognitive deficit.\u0000During the initial examination, the simple cranial tomography showed septum pellucidum agenesis and corpus callosum dysgenesis. Brain magnetic resonance imaging revealed agenesis of the septum pellucidum, irregularity and anomalous thickening of the cerebral cortex in frontal lobes and perisylvian region, heterotopic gray matter in frontal lobes and left fronto-insular region, mild supratentorial ventriculomegaly, atypical appearance of the corpus callosum rostrum, and hypoplasia of the chiasm and optic nerves.\u0000Although agenesis of the septum pellucidum was the key finding in this case, it is not present in all patients. The relevance of magnetic resonance imaging for the detailed evaluation of other involved structures, highlighting optic nerve hypoplasia, is fundamental in the radiologist’s diagnostic workup and this entity recognition.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"451-459"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635570","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":"Association between functional capacity and family functionality with frailty in older adults with cardiovascular risk in southwestern Colombia","authors":"Clara Inés Paz, Betsy Mercedes Ledezma, Diana María Rivera, Mabel Lorena Salazar, María Verónica Torres, Franklin René Patiño, Andry Yasmid Mera-Mamián","doi":"10.7705/biomedica.7473","DOIUrl":"10.7705/biomedica.7473","url":null,"abstract":"<p><strong>Introduction: </strong>The changes associated with aging are multidimensional and multifactorial, with the geriatric syndrome of frailty being its most problematic and complex expression. This syndrome leads to vulnerability, disproportionate changes in health status, and functional decline, making its effective identification and comprehensive management necessary.</p><p><strong>Objective: </strong>To describe the sociodemographic, clinical, and functional characteristics of older adults with cardiovascular risk in Southwestern Colombia.</p><p><strong>Materials and methods: </strong>This study has an observational, cross-sectional, and analytical design. The selected population included older adults enrolled in a cardiovascular and metabolic risk program in Popayán (Cauca). A multivariate analysis explored the relationship between frailty and certain sociodemographic, clinical, and functional variables.</p><p><strong>Results: </strong>A total of 293 older adults participated, primarily women (69.6%), with an average age of 71.23 years. Among them, 77.1% were classified as independent in basic activities and 56.3% in instrumental activities of daily living, with autonomy being more prevalent among men. Additionally, 71.1% of women and 43.8% of men were classified as prefrail. The bivariate analysis identified a relationship between frailty and variables such as sex, age, marital status, educational level, occupation, calf circumference, functional capacity, instrumental capacity, and family functionality. The multivariate analysis showed a higher frailty/prefrailty prevalence (55%) in women.</p><p><strong>Conclusions: </strong>Most participants were classified as prefrail; dependency and frailty were more prevalent in women, suggesting the need for preventive strategies and interventions from a gender-differentiated approach.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 4","pages":"537-551"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781602/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635489","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}