Biomedica : revista del Instituto Nacional de Salud最新文献

Toxic epidermal necrolysis is a rare, life-threatening dermatological emergency characterized by extensive epidermal detachment and mucosal involvement,  associated with high morbidity and mortality. Early  diagnosis and prompt treatment are imperative to improving patient outcomes. This case report describes the clinical course, management, and outcomes of a 29-year-old female diagnosed with toxic epidermal necrolysis. She had a history of polypharmacy and medication allergies and presented with a sudden-onset fever, malaise, and a diffuse rash. Clinical examination revealed extensive epidermal detachment involving more than 80% of the body surface area, including mucous membranes. Carbamazepine, administered recently, was identified as the suspected causative agent. The patient was promptly admitted to the intensive care unit for specialized care, including supportive measures, wound care, and close monitoring of fluid and electrolyte balance. Intravenous immunoglobulin therapy was initiated, together with a multidisciplinary approach involving dermatology, ophthalmology, and nutritional support. The patient's condition gradually improved over the following weeks, with re-epithelialization of the affected areas and resolution of systemic symptoms. This case highlighted the importance of early diagnosis, prompt management, and a multidisciplinary approach in optimizing patient outcomes. As toxic epidermal necrolysis is a rare disease, prospective studies, immunogenetic biomarkers, and randomized controlled trials remain limited. Further research in these areas is needed to provide valuable insights into the management of this disease.

Prompt diagnosis and treatment of spinal tuberculosis are key in preventing its neurological and physical sequelae. This affection, also known as Pott's disease, should be considered a differential diagnosis in patients presenting with unexplained back pain that can lead to neurological symptoms and eventually paraplegia. Mycobacterium tuberculosis, the etiological agent of tuberculosis, spreads from the lungs to the spine via venous or arterial pathways, causing lesions apparent upon imaging. Radiological findings include osseous destruction, disk collapse, abscess formation, and spinal deformity. While magnetic resonance is considered the most sensitive and specific imaging modality to establish a diagnosis, plain radiographs and computed tomography can provide useful information. This manuscript discusses three Colombian cases of spinal tuberculosis with the goal of increasing familiarity regarding the pathophysiology, clinical and radiological manifestations, and differential diagnosis of this rare but potentially devastating disease.

Introduction: Vitiligo is an acquired depigmenting skin disorder characterized by achromic macules resulting from the selective destruction of melanocytes. Epidemiological information regarding this condition remains limited in Colombia and Latin America, with prevalence varying across geographical regions.

Objective: To estimate the incidence and prevalence of vitiligo in Colombia by age, gender, and region.

Materials and methods: A retrospective study was conducted utilizing real-world clinical practice data retrieved from the national registry SISPRO (Sistema de Información para la Protección Social) spanning the period from 2015 to 2022.

Results: Over the eight-year follow-up period (2015-2022) in Colombia, 131,494 patients were diagnosed with vitiligo. In 2016, the lowest incidence was observed, with 26 cases per 100,000 inhabitants, whereas in 2019, the highest incidence was recorded at 47 cases per 100,000 inhabitants, representing a difference of 11,175 cases between the two years. Incidence decreased in 2020 to 28.15 cases per 100,000 inhabitants. Prevalence exhibited a linear increase over the years, with the highest rates observed in 2018 and 2019.

Conclusions: This study represents the first comprehensive report on epidemiological data concerning individuals with vitiligo in Colombia, and the second in South America. It contributes to the understanding of this condition, revealing an upward trend in incidence and prevalence. These findings also provide insights into primary treatment modalities, which are probably associated with improved case registration by healthcare providers.

Introduction: Neonatal screening is an essential mechanism for the early detection of congenital anomalies within the first hours of birth.

Objective: To describe the technical capacity of the laboratories performing neonatal screening tests in Colombia, the timeliness of information reporting, and national coverage based on data from the neonatal screening repository collected during January to September of 2024.

Materials and methods: We analyzed 243,536 records nationwide uploaded by health service providers that perform neonatal screening tests on dried blood spot simples nationwide. The records corresponded to births that occurred between January 1st and September 30th, 2024. We evaluated indicators of test coverage and capacity of the national diagnostic network.

Results: The screening coverage –calculated from the total number of laboratories that reported information– was 72.2% nationwide. The average time from birth to result reléase is 4.8 days, and only 62.1% of the results were classified as issued “very timely” (≤ 3 days).

Conclusions: We suggest that strengthening the quality and timeliness of information reporting will provide real-time data for timely public health decision-making, which will positively impact the quality of life of children born in Colombia.

Measles epidemics emerged in Colombia with the arrival of Europeans during the Conquest and Colonial periods, causing the death of thousands of indigenous people. Little is known about subsequent epidemics.Here, we summarize the history of 36 measles epidemics in Colombia, focusing on the first epidemic among the Hitnü indigenous people (1964) to improve the understanding of some historical facts. Despite underreporting, major epidemics were identified in indigenous territories (16th to 18th centuries) in Salamina (1885) and Bogotá (1905-1906). It was evidente that the lack of immunity had a greater impact during the Conquest and Colonial periods.Sociocultural determinants have always influenced the occurrence of epidemics, but their effects are greater after vaccines become available. Direct and structural violence have been the most important determinants of measles epidemics in the country. Currently, a global reemergence threatens Colombia.

Introduction: Syphilis detection has traditionally relied on non-treponemal tests for screening followed by confirmation with a treponemal test, an algorithm implemented worldwide.

Objective: To evaluate the performance of treponemal and non-treponemal tests in the effective detection of syphilis among blood donors.

Materials and methods: A cross-sectional study was conducted with 384 samples, initially reactive for syphilis by non-treponemal tests (VDRL). All samples were retested by VDRL, ELISA, CLIA, and FTA-ABS, the latter as a confirmatory test. We calculated kappa coefficients to establish agreement between tests and determine performance indices for each assay.

Results: We identified agreement between non-treponemal and treponemal tests. Concordance between VDRL and ELISA was 78.8% and between CLIA and VDRL was of 76% (p < 0.005). The concordance between ELISA and CLIA was 83%. When comparing the results of treponemal and non-treponemal tests with FTA-ABS, concordance rates ranged from 44.2% to 61.9%. Performance indices showed that non-treponemal and treponemal tests exhibit sensitivity values between 89.70% and 99.39%. The positive predictive value was higher for the CLIA test (95.27%), whereas the highest false-positive rate was observed for the VDRL test (94.52%).

Conclusions: The samples analyzed were reactive from the outset, which could interfere with the measurement parameters. However, they provided valuable information to evaluate the implemented algorithms.

Introduction: Forced spirometry evaluates respiratory mechanics according to the 2019 American Thoracic Society and European Respiratory Society criteria. The quality of the test depends on the evaluation of the curves obtained according to acceptability and repeatability, in addition to environmental factors such as altitude above sea level.

Objective: To determine the quality of forced spirometry tests in a healthy adult population at 2,700 meters above sea level.

Materials and methods: We conducted a prospective quantitative cohort study on reference values for forced spirometry in a healthy population at 2,700 meters above sea level. Test quality was evaluated using acceptability and repeatability criteria. Based on a prospective quantitative cohort study of forced spirometry reference values in a healthy respiratory population at 2,700 meters above sea level, the quality of the tests was evaluated considering the acceptability and repeatability criteria.

Results: We performed 417 forced spirometry tests in a healthy adult population at 2,700 meters above sea level, 81% of which fulfilled the quality criteria. A greater proportion of tests did not meet the acceptability criteria, specifically, “the good start” item due to a time higher than 150 ms to achieve the peak expiratory flow; followed by artifacts such as glottic closure, the most frequent; and “the good end” criterion due to an early termination ofexhalation.

Conclusions: As the sessions progressed, the quality of the forced spirometry tests was optimized, a condition favored by the improvement of the technique and continuous training of the professionals.

Introducción.

Materiales y métodos.

Usher syndrome is characterized by congenital sensorineural hearing loss, retinitis pigmentosa, and vestibular dysfunction. It is the most common cause of deafblindness worldwide. It is classified into three clinical types and twelve genetic subtypes.We report a case of a family affected by Usher syndrome due to a variant in the USH1G gene, coding for the SANS protein. The ocular and auditory tests were performed for clinical confirmation of the diagnosis. The molecular study consisted of a next-generation sequencing panel containing 14 genes associated with Usher syndrome: MYO7A, USHC1, CDH23, PCDH15, USHG1, CIB2, USH2A, ADGRV1, WHRN, CLRN1, HARS, PDZD7, CEP250, C2orf71.We present the case of a 13-year-old girl from a consanguineous Colombian family diagnosed with Usher syndrome type 1G. Clinical evaluations confirmed auditory, vestibular, and ocular alterations. Molecular analysis identified the homozygous p.Glu171Ter variant in the USH1G gene.We highlight the importance of an early diagnosis of Usher syndrome. Although the variant frequency in the USH1G gene is low, it should not be underestimated; the exact etiology must be identified in these families. We recommend establishing a panel with Colombianspecific variants to perform more accurate Usher syndrome diagnoses, and in the future, to guide the development of gene therapies.