Colombian Patients Research Articles

Impact of SGLT2 Inhibitors on Preventing Heart Failure Hospitalizations in Colombian Patients With Uncontrolled Type 2 Diabetes Mellitus

Impact of SGLT2 Inhibitors on Preventing Heart Failure Hospitalizations in Colombian Patients With Uncontrolled Type 2 Diabetes Mellitus

Prevalence of Microsatellite Instability in Gastric and Gastroesophageal Junction Cancer patients from a Latin American Country.

In Colombia, gastric cancer is fifth in incidence (12.8 cases per 100,000) and third in mortality (9.9 cases per 100,000). Microsatellite instability (MSI), a phenotype in gastric cancer treatment, lacks comprehensive exploration in Colombian and Hispanic/Latino populations. Data scarcity hinders immunotherapy approval in middle-income countries. Characterize the prevalence of MSI phenotype in Colombian patients with gastric and gastroesophageal junction cancer. We measured MLH-1, MSH-2, MSH-6, and PMS-2 expression in tumor pathology by immunohistochemistry markers. We conducted descriptive analysis and Fisher's test to identify associations for MSI expression. Final sample size was 106 patients, mean age of 62.5 years (25-93 ± 14.2). Prevalence of MSI was 12.26% (n = 13). We found an association between older age and positive MSI (p = 0.0042), as well as with non-diffuse histologic subtypes (p = 0.019). Prior studies report 22% MSI phenotype prevalence in gastric tumors, mostly in developed countries, excluding Hispanic/Latino populations. Identifying the prevalence of MSI in our population as 12.26% could pave the way for approving immune blockade drugs as a treatment option for these patients in Latin American countries. Our data could be utilized to conduct cost-utility studies in support of this.

Nutritional status in pediatric patients with predominant antibody deficiency

Predominant antibody deficiency is the most frequent group of innate immunity errors, but information about patients’ nutritional status is scarce. To characterize the nutritional status of Colombian patients with predominant antibody deficiencies. Material and methods. We analyzed medical charts of patients with predominant antibody deficiency in a pediatric hospital in Bogotá. We analyzed 55 medical charts. The most frequent diagnoses were specific deficiencies of polysaccharide antibodies and immunoglobulin A, common variable immunodeficiency, and agammaglobulinemia. More than 70% of the patients had sinopulmonary infections, with pneumonia being the most frequent, followed by otitis and sinusitis. In children under five years, 45% had adequate weight for their height, 18% had a risk of malnutrition, and 18% had moderate acute malnutrition. Four-point-five percent had obesity, 4.5% showed overweight, and 9% had a risk of being overweight. Of those older than five years, 54% had an adequate body mass index, 22.5% showed overweight, 9.6% were at risk of thinness, and 9.6% were thin. We found that the risk of short stature and short stature per se were more frequent than the expected height in these patients. The percentages of patients with short stature were higher than those reported nationally. Due to the epidemic of childhood obesity, it will be more frequent to find overweight or obesity in children above five years. Therefore, finding short stature could be a more sensitive alarm sign for predominant antibody deficiency.

Genotipificación del virus del papiloma humano en pacientes colombianos con carcinoma de células escamosas de esófago y carcinoma gástrico

Introduction: Human papillomavirus (HPV) is one of the most important oncogenic viru-ses detected in different types of cancer, which includes esophageal squamous cell carcino-ma (ESCC) and gastric cancer (GC). However, Colombia does not have data on the associa-tion of HPV with GC. Objetive: The aim of this study was to determine the presence HPV genotypes in patients with ESCC and GC, diagnosed between 2007 and 2014 at the Hospital Central de la Policía Nacional of Bogotá-Colombia (HOCEN).Methods: A total of 33 paraffin embedded tissue samples were examinate by polymerase chain reaction for the L1 gene of HPV. The extracted DNA was amplified using the universal primers MY09 and MY11. Then, the positive samples had high risk HPV genotyping perfor-med on them. The samples were analyzed by Roche Cobas 4800 system.Results: Five (15%) samples identified as positive to HPVDNA [four men (80%) and one woman (20%)], one (20%) was positive for HPV-16. The other four, whose genotypes had not detected by COBAS 4800, samples could correspond to low-risk HPV, or match to some of the high-risk genotypes that had not included in the detection panel of this test. Also, four (80%) HPVDNA positives had identified as adenocarcinoma intestinal type, and one (20%) as ESCC. Conclusion: Our study proves the existance of HPV and p16 in Colombian patients with ESCC and GC, that could be a risk factor for the development of these pathologies in this population.

Biochemical Control in a Colombian Cohort of Patients With Acromegaly: A 12-Month Follow-Up Study (2017-2023).

Acromegaly, although rare, is associated with multiple manifestations and complications; its high morbidity and mortality makes it a challenge. Treatment involves surgery and pharmacological therapies, focusing on biochemical normalization. This study analyzes the biochemical control in Colombian patients with acromegaly, seeking to improve the understanding of the effects of treatments in the management of the disease. A multicenter retrospective cohort study was conducted with data from a national acromegaly registry in Colombia (2017-2023), analyzing the biochemical control for 12 months according to the treatment modalities received. A total of 117 patients were analyzed, with 54 individuals from Valle del Cauca and 63 being women, representing different population groups in Colombia. The median age was 52 years, and the median disease duration was six years. Clinically, arterial hypertension and sleep apnea were observed in 53.8% (n = 63) and 45.3% (n = 53) of the cohort, respectively. Biomarker analysis revealed elevated levels of insulin-like growth factor-1 (IGF-1) and growth hormone (GH). The majority of tumors were macroadenomas, and among the 103 surgically removed tumors, all secreted GH. Of these, 58.3% (n = 60) had GH as the sole marker, while 12.6% (n = 13) co-expressed prolactin (PRL). At first, 92.3% (n = 108) of patients had no biochemical control. At six and 12 months, 34.1% (n = 40) and 21.2% (n = 25) achieved biochemical control, respectively. The reduction in tumor size was significant during follow-up, with a median size at the month of admission of 16 mm, with a reduction >20% at month 12 in 92.3% (n = 108) of patients. In Colombian patients with acromegaly, biochemical control at 12 months is lower than that reported in the literature, suggesting that pharmacological management could be associated with greater biochemical control.

EE821 Effect of Socioeconomic Status on the Direct Costs of Lupus Nephritis in Colombian Patients

EE821 Effect of Socioeconomic Status on the Direct Costs of Lupus Nephritis in Colombian Patients

Translation and Validation of the Spanish Version of the Banff Patellofemoral Instability Instrument 2.0.

The Banff Patellofemoral Instability Instrument (BPII) 2.0 is a patient-reported outcome measure (PROM) tailored specifically for patellofemoral instability. The BPII 2.0 was developed in English and has been validated for adolescents and translated into several languages, but not into Spanish. This investigation involved translating the BPII 2.0 into Spanish and evaluating and validating its psychometric properties. It was hypothesized that there would be a moderate correlation between the Spanish BPII 2.0 and the Spanish version of the Kujala score. Cohort study (diagnosis); Level of evidence, 3. The BPII 2.0 underwent forward and backward translations into Colombian Spanish according to the Consensus-Based Standards for the Selection of Health Measurement Instrument guidelines. Colombian patients aged 9 to 18 years who experienced knee symptoms after a primary or recurrent patellar dislocation were recruited from a hospital-based orthopaedic clinic. Participants completed the Spanish BPII 2.0 and the Kujala score during their initial visit (t0) and the Spanish BPII 2.0 again 1 week later (t1). Internal consistency and test-retest reliability were assessed using the intraclass correlation coefficient (ICC). Concurrent validity of the Spanish BPII 2.0 with the Kujala score was explored through Pearson correlation analysis. A total of 46 participants (31 [67%] female; mean age, 15.1 ± 2.0 years) were included. The mean time since first patellofemoral dislocation was 22 ± 28 months. Of the 4 participants who received operative treatment for patellar instability, the mean time since surgery was 12 months (range, 7-18 months). All patients completed the BPII 2.0 at t0 and at t1, a mean of 7 days later (range, 6-7 days), and 45 (98%) participants completed the Kujala score at t0. Five Spanish BPII 2.0 items exhibited floor or ceiling effects, however no subscales demonstrated these effects. Th Spanish BPII 2.0 demonstrated excellent internal consistency at both t0 (ICC, 0.94; 95% CI, 0.92-0.96) and t1 (ICC, 0.96; 95% CI, 0.93-0.97), along with excellent test-retest reliability (ICC, 0.98; 95% CI, 0.97-0.99). Concurrent validity of the Spanish BPII 2.0 with the Spanish Kujala score was good to strong (r = 0.74; 95% CI, 0.57-0.85). The Spanish BPII 2.0 had excellent internal consistency and test-retest reliability, suggesting this PROM is a reliable and valid questionnaire.

Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.

Autosomal recessive conditions are often associated with homozygous mutations showing common ancestral origins and are frequently linked to consanguinity. However, an increasing number of compound heterozygotes are found in diverse, admixed populations. Oculocutaneous albinism (OCA) is a recessive condition caused mainly by mutations in the TYR and OCA2 genes involved in skin pigmentation. We previously screened the TYR and OCA2 genes in Colombian OCA families, identifying both known and novel mutations. Affected family members were found to be either homozygous or compound heterozygous for these gene mutations. Compound heterozygosity, where two different recessive alleles inherited from each parent lead to the expression of an autosomal recessive trait, poses a challenge in genetic diagnosis. Estimating the ancestry of these disease-associated variants, in conjunction with understanding the colonization history of admixed populations, can enhance the precision of association mapping in genetic studies. The aim of this study was to determine the ancestral origins of TYR and OCA2 mutations for OCA patients from two populations located in the Andes region of Colombia-Altiplano Cundiboyacense and Marinilla-Santuario. Comparison of OCA patients, and their unaffected relatives, with global reference populations showed a pattern of European and Native American admixture, with little African ancestry, for these two populations. Mutation-bearing TYR and OCA2 haplotypes from Colombian OCA patients were compared against haplotypes from Spanish, Native American, and Sephardic Jewish reference populations to infer their ancestral origins. For 12 OCA1 patients from the Altiplano Cundiboyacense region, 21 out of 24 mutated TYR haplotypes show Spanish origins, two show Native American origins, and one shows a Sephardic Jewish origin. The two Native American TYR haplotypes, and the single Sephardic Jewish haplotype, are all found in compound heterozygote patients, paired with the predominant Spanish TYR haplotype G47D. OCA in these three patients is a result of genetic admixture that brought together disease-causing mutations with distinct ancestral origins. Both OCA2 patients from the Marinilla-Santuario region show homozygous OCA2 mutations with a Spanish origin. These findings underscore the complexity of the genetic architecture of Mendelian disease in admixed American populations, with both consanguinity and admixture contributing to the risk of autosomal recessive OCA in Colombia.

Prescription Patterns of Mycophenolate Mofetil in a Group of Patients from Colombia.

Mycophenolate mofetil is used for the prevention of solid organ transplant rejection and for other indications, such as systemic lupus erythematosus (SLE). To determine the prescription patterns of mycophenolate mofetil in a group of Colombian patients. This was a cross-sectional study of patients receiving mycophenolate mofetil between 2021 and 2022. The data were obtained from a drug dispensing database. Sociodemographic, clinical (diagnostic), and pharmacological variables were identified. A total of 979 patients who underwent treatment were identified; their mean age was 45.9 ± 17.1 years, and 87.4% were women. The main diagnosis associated with the use of mycophenolate mofetil was SLE (39.1%), followed by other rheumatic diseases (8.5%), nephrotic syndrome (7.5%), and solid organ transplantation (6.4%). The relationship between the mean dose and the defined daily dose was 0.75. Ten percent of patients received mycophenolate alone, whereas 32.9% received mycophenolate in combination therapy with conventional disease-modifying antirheumatic drugs and glucocorticoids. A total of 76.2% had polypharmacy (five or more drugs). Mycophenolate mofetil is used mainly in combination therapy for patients with SLE and other rheumatological diseases and for solid organ transplants at doses lower than those recommended.

Rasch Analysis Of The Dermatology Life Quality Index

Background and aims: Previous results of the Dermatology-Life-Quality-Index (DLQI) validation in Colombia based on the classical test theory (CTT) perspective have showed the need to delve into its measurement properties. Therefore, we aimed to assess the structural validity, internal consistency and item response analysis of the DLQI through the item response theory (IRT) or the Rasch model.Material and methods: We assessed the dimensionality of the DLQI, determined its difficulty, discrimination and differential functioning and went on to evaluate its internal consistency and discriminative validity among patients with inflammatory and non-inflammatory skin disease. We recruited Colombian patients with different skin diseases.Results: Data of 865 patients (mean age, 49.3 years; 61% females) were included. DLQI-scores ranged from 0 up to 30. Internal consistency for dichotomous item #7 showed a McDonald’s Omega coefficient of 0.85 (95%CI, 0.84-0.87) and a Cronbach's α coefficient of 0.86 (95%CI, 0.84-0.88). For ordinal item #7, the McDonald's Omega coefficient was 0.87 (95%IC:0.85-0.89) and Cronbach's α coefficient, 0.84 (95%CI, 0.82-0.87). Horn’s parallel analysis revealed the presence of DLQI unidimensionality with a 1-factor solution. Only item #1 fitted the PCM model. The remaining items, including item #9, did not show adequate fit due to overlapping responses and order changes.Conclusions: The validity of DLQI-COL based on Rasch analysis proved not to be a suitable instrument to evaluate QoL in our dermatologic population. A refined version of the scale with an adequate cross-cultural adaptation and validation process is needed to obtain an appropriate and reliable version of the instrument for QOL measuring in Colombian patients with skin diseases.

Patterns of Amphotericin B Use and Factors Related to Mortality in a Low-Middle Income Country: An Observational and Longitudinal Study.

Background/Objectives: Amphotericin B is indicated in deep systemic fungal infections. The aim was to determine the sociodemographic, clinical and pharmacological variables of a group of Colombian patients treated with amphotericin B and factors associated with mo rtality. Methods: A longitudinal observational retrospective study on the use of amphotericin B in Colombia was conducted between January 2015 and December 2022. The multivariate analysis sought to identify variables related to mortality. Results: A total of 310 patients were identified, with a median age of 44.0 years, and 71.0% were women. Conventional amphotericin B was the most used (74.8%). The main uses were cryptococcosis (38.7%), histoplasmosis (31.9%) and candidiasis (29.4%). More than a third of patients died during hospitalization (40.3%). An increase in the Charlson Comorbidity Index score (HR: 1.13; 95% CI: 1.05-1.22) and in the qSOFA score (HR: 1.34; 95% CI: 1.04-1.73), coinfection by Mycobacterium tuberculosis (HR: 2.09; 95% CI: 1.32-3.31) and the requirement of vasopressors (HR: 4.20; 95% CI: 2.16-8.15) or invasive mechanical ventilation (HR: 2.73; 95% CI: 1.40-5.33) increased the probability of in-hospital death. In contrast, those who received systemic corticosteroids (HR: 0.43; 95% CI: 0.26-0.70) had a lower risk. Conventional amphotericin B is the most used drug mainly treating Cryptococcus neoformans infections. Conclusions: The use of amphotericin B was consistent with clinical practice guideline recommendations. In-hospital mortality was common, and factors such as increased comorbidities, higher qSOFA scores, coinfection with Mycobacterium tuberculosis and invasive procedures like mechanical ventilation were linked to increased mortality.

SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients.

Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease primarily affecting paediatric patients, often leading to significant morbidity and mortality. Our principal objective is to describe the sociodemographic characteristics and evaluate the association between the number of SMN2 copies and SMA type in patients from the Colombian Foundation for Spinal Muscular Atrophy (FAMECOL) database. Methodology: An analytical cross-sectional study was conducted on 201 patients with a genetic diagnosis of SMA. Data were identified, extracted, and collected from patient records provided by FAMECOL as patients registered with the association, including 201 patients from April 2013 to April 2024, when the database was delivered. Qualitative variables were described using relative and absolute frequencies, while quantitative variables were described using central tendency and dispersion measures according to their distribution. The association between the SMA type and the SMN2 number of copies was assessed by Fisher's exact test (1 to 5 copies). Results: Of the 201 patients studied, 42% were female (n = 85), and 58% were male (n = 116). The median age was 9 years (IQR 4-16 years). The median age at diagnosis was 9 years (IQR 4-16), varying by subgroup: 2, 7, 14, and 41.5 years for each type, respectively. A total of 25% patients were from Antioquia (n = 51). Eighty-nine per cent had gastrostomy (n = 18). The association between the two variables was statistically significant (p < 0.05). Conclusion: This study highlights SMA clinical variability and its association with the number of SMN2 copies, underscoring the importance of a personalised approach to diagnosing and managing this disease. The findings may guide more effective therapeutic strategies to improve patients' quality of life.

EP.01D.06 Radon Exposure in Colombian Never-Smoker Non-Small Cell Lung Cancer Patients. A Pilot Study

EP.01D.06 Radon Exposure in Colombian Never-Smoker Non-Small Cell Lung Cancer Patients. A Pilot Study

Real-world experience of vedolizumab use in Colombian patients with inflammatory bowel disease—EXVEDOCOL

BackgroundReal-world studies about the effectiveness and safety of vedolizumab (VDZ) in the treatment of inflammatory bowel disease (IBD) in Latin America are scarce. Our study describes the effectiveness and safety of VDZ in Colombian patients with IBD. MethodsEXVEDOCOL (EXperience of VEDOlizumab in COLombia) was a retrospective, multicenter, observational study. Adults with IBD receiving a first dose of VDZ between July 2016 and October 2018 were included. The co-primary outcomes clinical response, and remission, were determined at week 14 and last visit during the maintenance phase (LVMP). The secondary outcomes, deep remission and loss of response were recorded at LVMP. ResultsThirty-one patients (25 ulcerative colitis (UC), 6 Crohn's disease (CD)) were included. At week 14, clinical response was achieved by 87.1% (27/31) of the patients treated with VDZ, while loss of response was reported in 6.7% (2/30). The remission rate at week 14 was 65.5% (19/29) and 75.9% (22/29) at LVMP. Prior anti-TNF exposure was reported in 61.3% (19 patients) of whom 84.2% (16/19) achieved clinical response at week 14 and 89.5% (17/19) at LVMP. For anti-TNF naïve patients, clinical response was recorded in 91.7% (11/12) at week 14 and 100% (12/12) at LVMP. ConclusionsHigh clinical remission rates and safety profile highlight VDZ as a valuable treatment option for IBD patients. Anti-TNF naïve patients may derive greater benefit from therapy. Studies with larger cohorts could confirm these findings.

418P Ambulatory function in Colombian patients with Duchenne muscular dystrophy treated with Ataluren after a baseline 6-minute walk distance

418P Ambulatory function in Colombian patients with Duchenne muscular dystrophy treated with Ataluren after a baseline 6-minute walk distance <300m

354P 3-Year outcomes in Colombian patients under 7 years old with Duchenne muscular dystrophy early treated with ataluren

354P 3-Year outcomes in Colombian patients under 7 years old with Duchenne muscular dystrophy early treated with ataluren

430 (PB418): Identification of Molecular Profiles of Triple-Negative Breast Cancer in Colombian Patients and Their Association with Immune Infiltration and Disease Prognosis

430 (PB418): Identification of Molecular Profiles of Triple-Negative Breast Cancer in Colombian Patients and Their Association with Immune Infiltration and Disease Prognosis

Treatment adherence and quality of life in colombian patients with lupus nephritis.

As with many other chronic diseases, systemic lupus erythematosus (SLE) and lupus nephritis (LN) have significant impacts on the health-related quality of life (HRQoL). Medication non-adherence is a significant challenge in the management of SLE, with consistently up to 75% of patients being non-adherent with their SLE medications. There is a need to assess the patient's perspective using patient-reported outcomes (PROs) to better understand the current impact of LN on HRQoL and treatment adherence in our region. The aim of this study was to explore the relationship between HRQoL and treatment adherence in patients with LN from the Colombian Caribbean. A cross-sectional study was conducted from June to December 2022, including patients with biopsy-proven LN. HRQoL and treatment adherence were assessed using the Lupus Quality of Life (LupusQoL) and the Compliance Questionnaire in Rheumatology 19 (CQR19) instruments, respectively. Patients were categorized as adherent or non-adherent based on medication intake (defined as >80% correct dosage). Principal component analysis (PCA) was employed to identify principal components between adherent and non-adherent patients. A total of 42 patients with LN were included. Of these, 38 (90%) were female, and the mean age was 31 ± 10 years. Proliferative class IV was the predominant histopathological profile (90%). Twenty-five (60%) patients were categorized as non-adherent. Across all LupusQoL domains, a comprehensive range of responses was observed. Pain, planning, and intimate relationships domains remained unaffected, while burden to others domain had the lowest score. Poorer planning score correlated with older age (r = -0.72; p < .05) and longer disease duration (r = -0.74; p < .05). SLEDAI-2K correlated with the pain domain (r = -0.78; p < .05). Non-adherent patients exhibited significantly worse pain domain scores compared to adherent counterparts (p < .05). PCA showed strong interactions between planning and pain, as well as between physical health and body image domains. LupusQoL pain domain scores were significantly worse in non-adherent patients compared to adherent patients. Effective pain management could be a determinant in HRQoL and treatment adherence rates in our population.

414P Pulmonary function in Colombian non-ambulatory patients with Duchenne muscular dystrophy treated with Ataluren

414P Pulmonary function in Colombian non-ambulatory patients with Duchenne muscular dystrophy treated with Ataluren

417P Comparison of changes in 6-minute walk distance for Colombian patients with Duchenne muscular dystrophy treated with Ataluren with different rates of decline

417P Comparison of changes in 6-minute walk distance for Colombian patients with Duchenne muscular dystrophy treated with Ataluren with different rates of decline