INTRODUCTION: Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percent...INTRODUCTION: Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades. OBJECTIVE: To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency. MATERIALS AND METHODS: The clinical phenotype was extracted from the clinical records. NKG2D expression in natural killer cells was evaluated by flow cytometry. The whole exome sequencing was performed in the patient and his parents. Sanger sequencing confirmed the pathogenic variant. RESULTS: The patient suffered from upper respiratory and urinary tract infections, autoimmune hemolytic anemia, and hepatopathy. NKG2D was decreased in the different blood subpopulations of natural killer cells. Serologic and viral load studies for Epstein-Barr virus were positive, but no B-cell malignancies have been documented. The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C>T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). The mother also carried the pathogenic variant in a heterozygous state. CONCLUSIONS: We report the clinical case of the first Colombian male patient with a pathogenic variant in MAGT1 associated with XMEN disease. Genetic counseling and followup are recommended for families with similar cases to allow prompt detection of new cases.
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...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: 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 transm...INTRODUCTION: 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. OBJECTIVE: To determine knowledge, attitudes, and practice profiles regarding rabies, or hydrophobia, in a municipality of Colombia, using a multiple correspondence analysis. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
INTRODUCTION: Congenital toxoplasmosis is a highly prevalent parasitic disease worldwide, with a high burden of disease and neurodevelopmental involvement in pediatric patients. OBJECTIVE: To describe the clinical sequel...INTRODUCTION: Congenital toxoplasmosis is a highly prevalent parasitic disease worldwide, with a high burden of disease and neurodevelopmental involvement in pediatric patients. OBJECTIVE: To describe the clinical sequelae and neurodevelopmental state of pediatric patients with congenital toxoplasmosis at the Hospital Militar Central during 2013 to 2020. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
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...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...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.
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 i...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 horm...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: 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. OBJECTIVE: To d...INTRODUCTION: 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. OBJECTIVE: To determine the concordance between clinical diagnoses and anatomopathological findings from autopsies conducted at a tertiary-level hospital institution. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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 str...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.
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 per...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. Despite 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. Here, 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.
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, dis...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. 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 resistan...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: Reports regarding the correlation and effect size of change of the full spectrum of quality of life and disease severity measures applied in-person to patients with atopic dermatitis are scarce. OBJECTIVES:...INTRODUCTION: Reports regarding the correlation and effect size of change of the full spectrum of quality of life and disease severity measures applied in-person to patients with atopic dermatitis are scarce. OBJECTIVES: To assess quality-of-life with 3 different instruments and to evaluate disease severity indices and to determine their correlation and effect size of change between two measurements. MATERIALS AND METHODS: Patient-level data were obtained through two in-person visits. Sociodemographic information and data related to disease distribution, severity (through the BSA, EASI, SCORAD, POEM, and itching scales), and the impact of atopic dermatitis on quality of life using the DLQI and Skindex-29, and EQ-5D, were assessed. The correlation between change in quality-of-life scores and disease severity scores in addition to the standardized effect size were also evaluated. RESULTS: Only 139 out of 212 patients completed the follow-up visit. BSA highly correlated with SCORAD and EASI, and the lowest correlation was found with POEM. The best correlation of pruritus VAS was found with sleep disturbance. The SCORAD score highly correlated with EASI, and the lowest correlation was found with POEM. The magnitude of the effect at initiation of the study vs follow-up was in average moderate to important. CONCLUSIONS: Patients with atopic dermatitis experience a substantial burden on quality of life. Disease activity correlates better with quality-of-life measurements when the disease is less severe after starting therapy. POEM and Skindex-29 seem to be optimal to determine disease severity and quality of life in adults with atopic dermatitis.
INTRODUCTION: Video games have a strong influence on children and adolescents. Video game addiction has negative effects on children's health. OBJECTIVE: To determine the relationship between video game addiction and bla...INTRODUCTION: Video games have a strong influence on children and adolescents. Video game addiction has negative effects on children's health. OBJECTIVE: To determine the relationship between video game addiction and bladder/bowel dysfunction in children. MATERIALS AND METHODS: Three hundred sixty-three children and their mothers who met the inclusion criteria constituted the sample of this correlational study. The data were collected using a descriptive information form, the Video Game Addiction Scale for Children, and the Childhood Bladder and Bowel Dysfunction Questionnaire. RESULTS: We found that 72.5% of the children were nine years old and 27.5% were ten years old; 50.4% were males and 49.6% were female. While 4.7% of the children who participated in the study were underweight, 19.6% were overweight, and 17.9% were obese. The mean Video Game Addiction Scale for Children score was 50.77 ± 16.17, whereas the mean Childhood Bladder and Bowel Dysfunction Questionnaire score was 29.98 ± 8.90. The ratio of children with a mean Video Game Addiction Scale for Children scores equal to or greater than 90 was 0.8% (n = 3). We found that 3.6% (n = 13) of the children had urinary/fecal incontinence while playing video games. There was a weak positive relationship between the dimensions of the Video Game Addiction Scale for Children scores, the Childhood Bladder and Bowel Dysfunction Questionnaire scores, and children's bladder and bowel function (r = 0.220; p ˂ 0.05). CONCLUSIONS: There is a correlation between children's video game addiction level and their bladder and bowel dysfunction grade. Higher video game addiction levels correspond to higher bladder and bowel dysfunction.
Routine screening of organ donors to detect human immunodeficiency virus (HIV) infection has detected the rare transmission of the virus through organ transplantation. However, despite routine screening, HIV transmission...Routine screening of organ donors to detect human immunodeficiency virus (HIV) infection has detected the rare transmission of the virus through organ transplantation. However, despite routine screening, HIV transmission remains a risk in organ transplantation since, unlike tissues, solid organs cannot be processed, disinfected, or modified to inactivate infectious pathogens. A case of possible transmission of HIV by organ transplant is described below, from a previously seronegative donor to two recipients.