Biomedica : revista del Instituto Nacional de Salud最新文献

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.

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.We 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.During 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.Although 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.

Introduction: 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.

Objective: To describe the sociodemographic, clinical, and functional characteristics of older adults with cardiovascular risk in Southwestern Colombia.

Materials and methods: 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.

Results: 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.

Conclusions: 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.

Introduction: Intestinal parasitic infections represent a public health problem, especially among vulnerable populations. There are few studies on the prevalence and determinants of intestinal parasites infections in street dwellers, who may experience significant health and socioeconomic implications. Understanding the prevalence and associated factors of intestinal parasites in this population is crucial for targeted interventions to mitigate the spread of these infections.

Objective: To determine the prevalence of intestinal parasites in street dwellers attending a shelter in Cali, Colombia.

Materials and methods: We selected 66 participants who met the inclusion criteria. We collected serial stool samples for laboratory evaluation and sociodemographic data, and information on their hygiene habits and addictions.

Results: Seventy-six percent of the participants had intestinal parasites or commensals, with 30% presenting monoparasitism, 46% polyparasitism, and 20% eosinophilia. Blastocystis spp. was the most common organism (68.18%), followed by Endolimax nana (34.85%) and Entamoeba coli (18.18%). The most common pathogens were the Entamoeba histolytica/E. dispar/E. moshkovskii complex (10.61%) and hookworms (9.09%). We evaluated prevalence-related determinants.

Conclusions: Intestinal parasitism is a health problem among street dwellers in Cali. A serial examination is recommended for diagnosing intestinal parasitic infection, especially in cases of low parasite loads. Campaigns should be established to reduce the prevalence of these parasites in populations at risk of complications.

Introduction. Aedes aegypti is an important vector of arboviral diseases like dengue among others. Traditional control strategies, such as the use of insecticides, have lost effectiveness due to the emergence of resistance in mosquito populations. Biological control and fungi applied for biocontrol are presented as viable and ecological alternatives.Objective. To evaluate in vitro pathogenicity of Trichoderma sp. isolates obtained from Urabá (Antioquia) on larvae of Ae. aegypti, and to determine the mean lethal concentration and mean lethal time of the most pathogenic isolate.Materials and methods. Using the sentinel larvae method of Ae. aegypti, fungi were isolated from water bodies in the Urabá region (Antioquia). The isolates were characterized morphologically and molecularly to determine their taxonomic identity. Pathogenicity tests were performed in vitro on Ae. aegypti larvae in the L2/L3 stages. Subsequently, a strain was selected to establish its mean lethal concentration and mean lethal time.Results. Trichoderma sp. strain AP-91 caused high mortality in larval populations of Ae. aegypti. We estimated a mean lethal concentration of 1.8 × 107 conidia/ml and a mean lethal time of 20.67 hours.Conclusion. The strain AP-91 showed potential for its use as biological control of Ae. aegypti, making it a suitable candidate for scale-up cultures applied to integrated vector management. This research suggests exploring compounds and enzymes produced by the AP-91 strain to understand better its pathogenicity.

Introduction: Pintomyia (Pifanomyia) longiflocosa is an endemic species from Colombia, found between the central and eastern Andes, and reported as one of the primary vectors of cutaneous leishmaniasis in coffee-growing zones of the country. This species is classified in the Townsendi series and can only be identified by the morphology of the male adults.

Objective: To determine the potential use of the fourth larval stage of the vector Pi. longiflocosa in morphological taxonomy based on the description of its chaetotaxy.

Materials and methods: Pintomyia longiflocosa adults were captured in Campoalegre, Huila, and reared in the Entomology Laboratory at the Colombian Instituto Nacional de Salud. To identify the setae found in each corporal segment, 15 fourth-instar larvae were mounted on microscope slides using Canadian balm after being cleared with 10 % potassium hydroxide and saturated phenol. Additionally, five specimens were prepared for their observation by scanning electron microscopy.

Results: Based on the description of Pi. longiflocosa, we established that all species of the subgenus Pifanomyia so far described have the same antennal morphology and clavate setae along their body. However, various setae present in Pi. longiflocosa are absent in Pi. youngi, suggesting differences among the larvae of the Townsendi series.

Conclusions: These results support the potential importance of morphological characters from the fourth larval instar, such as antennal morphology and chaetotaxy, specifically in closely related species that are cryptic in their adult stages.

Introduction. The relationship between obesity and alcohol consumption is a topic of significant interest to public health. Alcoholic beverages contribute additional calories to the diet, which could be a relevant factor to the overweight risk. However, its association with weight gain is controversial and influenced by multiple factors.Objective. To analyze the relationship between moderate alcohol intake and body mass index, considering the variables that may influence this relationship.Materials and methods. The sample consisted of 155 individuals from Puerto Madryn (Argentina). Each participant completed a questionnaire about health, lifestyle, demographic, and socioeconomic factors. Anthropometric measurements were taken, and polymorphisms of 18 genes related to alcohol metabolism were genotyped.Results. We found that moderate alcohol consumption is associated with a lower body mass index, particularly in females. An increase of 14 grams of alcohol was associated with a risk of 0.68 for obesity and 0.71 for overweight. The T variant of the marker rs4646543 (ALDH1A1), a gene involved in alcohol metabolism and adipogenesis, was associated with a higher frequency of alcohol consumption.Conclusion. The findings of this study suggest that moderate alcohol consumption does not significantly contribute to body weight in the sample studied. Furthermore, the association with genetic variants, such as those of the ALDH1A1 gene, may provide a biological explanation for the inverse relationship observed between weight and alcohol consumption.

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5,leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.The patient, a seven-years-old boy, started showing dystonic hand movements at 14 days of age; at six, he had neurodevelopmental delay, generalized hypotonia, frequent episodes of apnea, and swallowing difficulties.Although other conditions were initially considered, such as Duchenne muscular dystrophy and neuronal ceroid lipofuscinosis, a whole exome sequencing revealed the pathogenic variant c.692T>C (p.Phe231Ser) in the exon 1 of the PURA gene, not previously reported in other patients. With this finding, we adopted a comprehensive management approach addressing the patient’s characteristics and alterations.Since the PURA syndrome is not on the list of orphan/rare diseases recognized by the Colombian Ministerio de Salud y Protección Social, we hope our report will contribute to its official recognition.The case shows the importance of considering rare diagnoses in patients with uncommon neurological symptoms, underlining the usefulness of genomic sequencing in diagnosis and the need for collaboration to optimize healthcare for patients with PURA syndrome and similar diseases.

Introduction: Abdominal and neural angiostrongyliasis caused by Angiostrongylus costaricensis and A. cantonensis, respectively, are zoonotic diseases involving snails as intermediate hosts. Colombia has already reported human cases, and the increasing distribution of Lissachatina fulica and Cornu aspersum raises public health concerns due to the potential risk of disease transmission in areas where parasites and hosts coexist.

Objective: To identify the presence of Angiostrongylus spp. in snail species L. fulica and C. aspersum in Antioquia, Colombia.

Materials and methods: This prospective cross-sectional study had a population of 5,855 L. fulica and C. aspersum snails captured in the ten towns of the Valle de Aburrá (Antioquia, Colombia), 169 samples were collected in 28 sampling points. Lung tissues of the collected snails were dissected and analyzed to detect Angiostrongylus spp. through molecular techniques.

Results: Angiostrongylus spp. were identified in both L. fulica and C. aspersum. Angiostrongylus costaricensis was detected in 18 pooled prevalence of 30% (95% CI = 19.2-43.3), and Medellín was the municipality with the highest number of positive samples (33.3%). Seventy-two-point-two percent of the positive places reported the presence of rodents. None of the tests were positive for A. cantonensis.

Conclusion: Our findings provide important insights into the epidemiology and distribution of Angiostrongylus spp. in Antioquia, Colombia. The identification of these parasitic nematodes in L. fulica and C. aspersum highlights the potential role of these snails as intermediate hosts in the transmission of Angiostrongylus spp. infections in the Valle de Aburrá, with implications for human and veterinary health.