[Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia]. / Fenotipificación y genotipificación en pacientes con enfermedad inflamatoria intestinal en un centro de referencia de Colombia.

INTRODUCTION: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. OBJECTIVE: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. MATERIALS AND METHODS: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multi-gene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. RESULTS: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). CONCLUSION: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Body Awareness as a Protective Factor against Suicidal Orientations in College Students.

In this study, binary logistic regression and linear regression analyses were used to examine the relationship between interoceptive body awareness and suicidal orientation among Colombian university students. Additionally, the bootstrap technique was employed to resample and estimate the distribution of the data. The results support the idea that greater interoceptive awareness may protect against suicidal orientation by improving emotional regulation. An inverse relationship was found between interoceptive awareness and suicidal ideation. These findings align with previous literature emphasizing the importance of body awareness for emotional well-being. Further longitudinal research is needed to explore this relationship more deeply.

[HLA genotypes associated with gastrointestinal symptoms in patients with spondyloarthritis without inflammatory bowel disease]. / Genotipos HLA asociados a síntomas gastrointestinales en pacientes con espondiloartritis sin enfermedad inflamatoria intestinal.

OBJECTIVE: This study aimed to establish the association between HLA-A, B, DR genotypes and gastrointestinal variables in patients with SpA without inflammatory bowel disease (IBD). METHODS: Retrospective study of 91 patients with SpA and 401 healthy controls, with typing by Illumina Sequencing/PacBio and LIFECODES HLA-PCR/SSO multiplex sequencing technology. The presence of gastrointestinal symptoms was evaluated by administering a survey, and those who presented 2 or more symptoms were taken for clinical evaluation by rheumatology and gastroenterology, colonoscopy and histopathological study. (Ethics committee approval). RESULTS: The 59,3% of the patients were men, with a mean age of 43,9±11.4 years; 80,2% were classified as ankylosing spondylitis. 14, 28 and 19 genotypes for the HLA-A*, HLA-B* and HLA-DR* loci were identified in both groups, of which a relationship with gastrointestinal symptoms was identified: A*26, A*29 and B*27 were associated to abdominal pain, DRB1*11 and DRB1*16 with abdominal distention, A*30, B*38, DRB1*13 and DRB1*14 with weight loss, B*40 with diarrhea >4 weeks, and presence of mucus in the stools with A*02 and DRB1*11 (p<0.05). Furthermore, the presence of B*15 had a statistical relationship with intolerance to some food, highlighting the B*27 genotype in relation to grains and dairy products, A*23 with grains, vegetables and meats, and B*49 with vegetables and dairy (p<0.05). Regarding the endoscopic variables, macroscopic changes were found in the ileum mucosa related to A*02, B*48, DRB1*14 and the relationship between B*27 and ulcers at this level should be highlighted. Macroscopic changes in the sigmoid colon with B*48 and the rectum with A*30. In microscopic changes, inflammatory alterations of the ileum are mentioned with genotypes DRB1*07, DRB1*13 and DRB1*14, a genotype that is related to changes in the ileum both endoscopically and histologically (p<0.05). CONCLUSIONS: These findings indicate a potential genetic predisposition related to HLA genotypes that may increase the likelihood of food intolerance, gastrointestinal symptoms, and even visible and microscopic changes, specifically in the ileal tissue. The study highlights the presence of B*27 and other noteworthy HLA class I and class II genes (such as DRB1*14) in the diverse Colombian population.

OBJETIVO: Establecer la asociación entre genotipos HLA-A, B, DR y variables gastrointestinales en pacientes con EspA, sin enfermedad inflamatoria intestinal (EII). MÉTODOS: Estudio retrospectivo de 91 pacientes con EspA y 401 controles sanos, con tipificación por tecnología de secuenciación Illumina Sequencing/PacBio, y LIFECODES HLA-PCR/SSO multiplex. Se evaluó la presencia de síntomas gastrointestinales por aplicación de una encuesta, y, aquellos que presentaran dos o más síntomas, fueron llevados a valoración clínica por reumatología y gastroenterología, colonoscopia y estudio histopatológico. (Aprobación del Comité de Ética, HMC, 2022 - 2020). RESULTADOS: El 59,3% de los pacientes fueron hombres, con edad media de 43,9 ± 11,4 años. El 80,2% se clasificó como espondilitis anquilosante. Se identificaron en ambos grupos 14, 28 y 19 genotipos para los loci HLA-A*, HLA-B* y HLA-DR*, de los cuales se identificó relación con síntomas gastrointestinales: A*26, A*29 y B*27, con dolor abdominal; DRB1*11 y DRB1*16, con distensión abdominal; A*30, B*38, DRB1*13 y DRB1*14, con pérdida de peso; B*40, con diarrea >4 semanas y presencia de moco en las deposiciones con A*2 y DRB1*11 (p<0,05). Además, la presencia de B*15, tuvo relación estadística con intolerancia a algún tipo de alimento, a resaltar el genotipo B*27, en relación con granos y lácteos; A*23 con granos, verduras y carnes; y el B*49, con verduras y lácteos (p<0,05). Frente a las variables endoscópicas, se encontraron cambios macroscópicos en la mucosa de íleon relacionados con A*02, B*48, DRB1*14 y, a destacar, la relación B*27 con úlceras a este nivel. Cambios macroscópicos en colon sigmoides con B*48 y en recto con A*30. En cambios microscópicos, se mencionan alteraciones inflamatorias de íleon con genotipos DRB1*07, DRB1*13 y DRB1*14, genotipos que se relaciona a cambios en íleon tanto endoscópica e histológicamente (p<0,05). CONCLUSIONES: Estos resultados sugieren una posible susceptibilidad genética asociada al HLA, con genotipos que pueden predisponer a intolerancia alimentaria, síntomas gastrointestinales, e incluso, a cambios macroscópicos e histológicos, particularmente en tejido de íleon, entre los cuales está presente el B*27, pero resaltan otros interesantes en HLA clase I, como clase II (DRB1*14), en una población de alto mestizaje como la colombiana.

[HLA alleles heterogeneity in a sample of colombian patients with a diagnosis of psoriatic arthritis]. / Heterogeneidad de alelos HLA, en una muestra de pacientes con diagnóstico de artritis psoriásica en Colombia.

OBJECTIVE: The objective is to describe the HLA allelic frequency in PsA and correlate it with demographic and clinical variables. METHODS: Retrospective study of adult patients with a diagnosis of PsA (n=23) and healthy controls (n=46), all with a request for HLA-A, B, C, DR. Typing was performed using HLA-PCR/SSO LifeCodes and analyzed on the LUMINEX IS100/200 xMAP® system. (Ethics/Code HMC2022-014). RESULTS: One hundred thirty-eight alleles were included from 69 individuals, 43,5% women, aged 44,5±16,5 years in patients with PsA, with a mean age of disease onset of 33.4±14 years. Only 9.5% had a high Body Mass Index and dyslipidemia was the most frequent comorbidity (34.8%), followed by high blood pressure (26,1%). 82% debuted with skin manifestation and once the joint disease was established, the predominance was peripheral (74%) due to arthritis/arthralgia in 74%, enthesitis in 30% and dactylitis in 13%. The allele frequencies were for HLA*A 2402 (13%), 3201 (13%) and 2427 (8,7%), for HLA*B 1402 (17,4%), 4002 (17,4%), 3801 (13%) and HLA*DR 0404 (17,4%), 0407 (13%). No HLA*B27 was identified and HLA*C0602 was only 2,2%. HLA A*0201 and DR*1301 were less frequent in controls versus PsA (p=0.024 and 0,029, respectively), while HLA*B1302 was frequent in PsA (p=0,035). CONCLUSIONS: Curiously, there were no positive results for HLAB*27, which may be related to the population mix. HLA Cw6 is traditionally associated with psoriasis. However, its absence has been linked to nail disorders and PsA; consequently, in our study, it had a low frequency (2,2%). On the other hand, HLA*B1302 has been related to the disease and its early onset; in the healthy Colombian population, it has been described in 0,92%; in our group, it is found to be significant in patients without establishing a clinical association. Few previous studies report HLA results in PsA in Colombia.

OBJETIVO: Describir la frecuencia alélica de HLA en APs y asociarlo con variables demográficas y clínicas. MÉTODOS: Estudio retrospectivo de pacientes adultos con diagnóstico de APs (n=23), y controles sanos (n=46), todos con solicitud de HLA-A, B, C y DR. La tipificación se realizó por medio de HLA-PCR/SSO LifeCodes, y se analizó en el sistema LUMINEX IS 100/200 xMAP®. (Ética/Código HMC2022-014). RESULTADOS: Se incluyeron 138 alelos de 69 individuos, 43,5% mujeres, con edad 44,5±16,5 años, en pacientes con APs, con edad media de inicio de la enfermedad de 33,4±14 años. Solo el 9,5% tuvo Índice de Masa Corporal alto y la dislipidemia fue la comorbilidad más frecuente (34,8%), seguida de hipertensión arterial (26,1%). El 82% debutó con manifestación en piel y una vez establecida la enfermedad articular, el predominio fue periférico (74%), por artritis/artralgias en un 74%, entesitis en 30%, y dactilitis 13%. Las frecuencias alélicas fueron para HLA*A 2402 (13%), 3201 (13%) y 2427 (8,7%), para HLA*B 1402 (17,4%), 4002 (17,4%), 3801 (13%) y HLA*DR 0404 (17,4%), 0407 (13%). No se identificó HLA*B27 y HLA*C0602 fue solo del 2,2 %. HLA A*0201 y DR*1301 fueron menos frecuentes en controles versus APs (p=0,024 y 0,029, respectivamente), mientras que HLA*B1302 frecuente en APs (p=0,035). CONCLUSIÓN: Curiosamente no hubo resultados positivos para HLAB*27 y esto puede relacionarse con el mestizaje de la población. HLA Cw6 es tradicionalmente asociado a psoriasis, sin embargo, su ausencia se ha relacionado con mayor reporte de alteraciones ungueales y Aps; como consecuencia, en nuestro estudio tuvo una baja frecuencia (2,2%). Por otro lado, el HLA*B1302 ha tenido relación con la enfermedad y su inicio temprano, en población sana colombiana se ha descrito en 0,92%, en nuestro grupo se encuentra de manera significativa en los pacientes sin establecerse asociación clínica. Pocos estudios previos refieren resultados de HLA en APs en Colombia.

[Faecal microbiota study reveals specific dysbiosis in spondyloarthritis according to subtype, disease activity and treatment]. / Estudio de microbiota fecal revela disbiosis específica en espondiloartritis, según subtipo, actividad de la enfermedad y tratamiento.

OBJECTIVE: To compare the diversity and composition of the gastrointestinal microbiome of patients with SpA. METHODS: MiSeq sequencing of the V3-V4 region of the 16S ribosomal RNA gene was performed on DNA isolated from stool. Patients with concurrent SpA and IBD were excluded. Differences were assessed for richness and diversity indices by QIIME 2™. Differences between means >0,2% with a p-value<0,05 were assumed significant. Institutional Ethics Committee endorsement. RESULTS: 69 individuals included, 49 with SpA (ankylosing spondylitis-AS 72,9%, psoriatic arthritis-PsA 18,8%, reactive arthritis-ReA 8,3%) 5 positive controls-dysbiosis and 15 controls-eubiosis. Conventional treatment in 42,9%, anti-IL-17 16,3% and anti-TNF 40,8%. By subtype, statistically significant differences in favour of AS were found for the diversity indices. AS vs PsA there was a difference in favour of AS for Clostridium clostridioforme (p=0,002), Gemmiger formicilis (p=0,009), Roseburia inulivorans (p=0,008) and Lachnospira pectinoschiza. AS vs ReA there was a difference in favour of AS for L. pectinoschiza (p=0,009), Ruminococcus callidus (p=0.006), Clostridium ruminantium (p=0.031); G. formicilis (p=0,034). Diversity and richness showed differences in patients with high activity for Simpson's and Pielou's indices. In high activity, lower enrichment of Bacteroides eggerthii (p= 0,0003), C. ruminantium (p= 0,026) and Alistipes putredinis (p=0,035) was found. The number of ASV was higher in the anti-IL-17 vs conventional group (p=0.025) and a trend between anti-IL-17 vs anti-TNF (p=0.09). In anti-TNF there was a lower proportion for C. clostridioforme (p=0.023), G. formicilis (p=0.030) and R. callidus (p= 0.003). In anti IL-17, Alistipes indistinctus (p= 0.012) was decreased. CONCLUSIONS: There are differences in microbial diversity for SpA subtypes. The level of disease activity is plausible to influence the composition of the faecal microbiota. Anti-TNFα treatment may influence the microbiome environment favouring restoration of the gut microbiota, while anti-IL-17 may maintain an inflammatory environment.

OBJETIVO: Comparar la diversidad y composición del microbioma gastrointestinal de pacientes con EspA. MÉTODOS: La secuenciación MiSeq de la región V3-V4 del gen ARN ribosomal 16, se realizó en ADN aislado de heces. Se excluyeron pacientes con EspA y EII simultánea. Se evaluaron diferencias para los índices de riqueza y diversidad por medio de QIIME 2™. Las diferencias entre medias> 0,2%, con un valor de p< 0,05, se asumieron significativas. Aval del Comité de Ética Institucional. RESULTADOS: 69 individuos incluidos, 49 con EspA (espondilitis anquilosante-EA 72,9%, artritis psoriásica-APs 18,8%, artritis reactiva-ARe 8,3%), cinco controles positivos-disbiosis y 15 controles-eubiosis. El tratamiento convencional en 42,9%, anti-IL-17 16,3%, y anti-TNF 40,8%. Por subtipo-EasP, se encontraron diferencias estadísticamente significativas a favor de EA para los índices de diversidad. Entre EA vs APs, hubo diferencia a favor de EA para Clostridium clostridioforme (p=0,002), Gemmiger formicilis (p=0,009), Roseburia inulivorans (p=0,008) y Lachnospira pectinoschiza. Entre EA vs ARe hubo diferencia a favor de EA para L. pectinoschiza (p=0,009), Ruminococcus callidus (p = 0,006), Clostridium ruminantium (p=0,031); G. formicilis (p=0,034). La diversidad y riqueza mostraron diferencias en pacientes con alta actividad para los índices de Simpson y Pielou. En alta actividad, se encontró menor enriquecimiento de Bacteroides eggerthii (p=0,0003), C. ruminantium (p= 0,026) y Alistipes putredinis (p= 0,035). El número de ASV fue superior en el grupo de anti IL-17 vs convencional (p=0.025), y una tendencia entre anti IL-17 vs anti-TNF (p=0,09). En anti TNF hubo menor proporción para C. clostridioforme (p=0,023), G. formicilis (p=0,030) y R. callidus (p= 0,003). Y en anti IL-17, Alistipes indistinctus (p= 0,012), estuvo disminuida. CONCLUSIONES: Existen diferencias en la diversidad microbiana para los subtipos de EspA. El nivel de actividad de la enfermedad es plausible para influir en la composición de microbiota fecal. El tratamiento con anti-TNFα, puede influenciar el ambiente del microbioma favoreciendo la restauración de la microbiota intestinal, mientras los anti IL-17 podrían mantener un ambiente inflamatorio.

Forced Handling Decreases Emotionality but Does Not Improve Young Horses' Responses toward Humans and their Adaptability to Stress.

Horses are often still exposed to stressful or inadequate conditions and difficult relationships with humans, despite growing concerns about animal welfare. In the present study, we investigated the impact of different approaches of short-term handling sessions on young Lusitanian horses raised on a high-breed farm, specifically on their later adaptability to humans and stressful environments. Thirty-one foals (3 months old ± 15 days), from both sexes, were separated into three groups, one submitted to 3 consecutive days of handling sessions (Int-H), another to one handling session each month for 3 months (Month-H), and one left undisturbed (control). At 8 months old ± 15 days, all foals were evaluated during behavioral tests (restraint in a stock and forced-person test). Evaluations were based on behavioral observations and physiological assessments. The handled foals (Int-H and Month-H) reacted less to being isolated and restrained and better tolerated human contact and veterinary procedures than the control ones. The handled foals displayed less evasive and negative behaviors toward human approach, but also sought less human contact and did not interact, regardless of the handling timeframe. All animals displayed signs of stress when restrained in the stock, with increased neutrophil counts and CHCM levels in the blood, and no differences in metabolic (CK and LDH) and other hematological parameters. The neutrophil-lymphocyte ratio was significantly higher (p < 0.05) in handled foals than in control ones, suggesting low standards of welfare. Our data suggest that early forced handling decreases fearfulness in new environments; however, it does not improve the horses' relationship with humans, and it decreases welfare.

Low Frequency of Upper Gastrointestinal Bleeding Despite Non-Steroidal Anti-Inflammatory Drugs and Corticosteroids in Patients with Rheumatoid Arthritis.

BACKGROUND: Rheumatoid arthritis (RA) is a chronic inflammatory disease. It has been identified that non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids can be essential risk factors for developing complications such as upper gastrointestinal bleeding (UGIB). OBJECTIVE: This study aimed to describe the safety profile of drugs used to treat RA focused in UGIB. METHODS: A cross-sectional study of patients with RA between 2015 and 2021, a description of the population, and an evaluation of the relationship with UGIB through bivariate analysis and logistic regression. RESULTS: Of 405 individuals, 16 presented UGIB (93.8% women, mean age was 65±13.6 years). No statistically significant differences were found regarding UGIB and medication use, except for the mean dose of corticosteroids. In the multivariate analysis, it was found that the presence of anemia in the last three months had an adjusted OR (ORA) of 16.1 (95% CI 2.74- 24.23) and higher HAQ values during the previous three months had an ORA of 6.17 (95% CI 1.79- 21.24). CONCLUSION: This study found a low frequency of UGIB in patients with RA. More significant disability and anemia in the previous months were independently associated with UGIB. The low frequency of NSAID use in this population is noteworthy. In general, reasonable medication use related to this complication is recommended.

Gene variants for the WNT pathway are associated with severity in periodontal disease.

OBJECTIVE: Studies of Wnt variants-related to bone resorption in periodontitis are limited. The aim of this study was to establish the genotype and allele frequency of gene variants associated with the Wnt pathway in systemically healthy individuals with and without periodontitis (PD). MATERIALS AND METHODS: One hundred fifty-seven systemically healthy individuals were evaluated, 90 with PD and 67 without PD. Periodontal clinical indexes, serological and clinical indices of inflammation, and the following variants associated with the Wnt pathway: DKK, SOST, LRP5, and KREMEN were analyzed by high resolution melting and confirmed by Sanger sequencing. RESULTS: In the PD-free group, 67.2% of the individuals presented the variant for DKKrs1896367 (p = 0.008) and 82.6% had the variant for KREMEN rs132274 (p = 0.016). The heterozygous variant for the DKK rs1896367 polymorphism was associated with the absence of PD and lower severity OR: 0.33 (CI95% 0.15-0.70) and OR: 0.24 (CI95% 0.11-0.53), respectively. Similarly, KREMEN rs132274 was the homozygous variant associated with the absence of PD (OR: 0.33 (CI95% 0.13-0.88)). On the contrary, 85.6% of individuals with PD presented a variant for DKK rs1896368 (p = 0.042), all suffering severe forms of periodontitis. CONCLUSION: The presence of DKKrs1896367 and KREMENrs132274 variants in individuals without PD suggests that these single nucleotide polymorphisms could be protective factors for bone loss in PD. A very interesting finding is that the DKKrs1896368 variant was found in a high percentage of severe cases, suggesting that the presence of this variant may be related to the severe bone loss observed in PD.

Fenotipificación y genotipificación en pacientes con enfermedad inflamatoria intestinal en un centro de referencia de Colombia / Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia

RESUMEN Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología.

ABSTRACT Introduction: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. Objective: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. Materials and methods: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multigene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. Results: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). Conclusion: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Exploring the Link between Interoceptive Body Awareness and Suicidal Orientation in University Students: A Cross-Sectional Study.

INTRODUCTION: The transition to college life can impact the mental health of students. There are mental health care strategies that promote connection with the body's internal signals, which can help to improve mental well-being, manage emotions, and reduce the risk of suicide in university students. AIM: This study aimed to examine the association between interoceptive body awareness variables and suicidal orientation in a sample of 169 undergraduate students in Colombia. METHODS: An observational, cross-sectional study was conducted in 2023 with Colombian students as the participants. RESULTS: The findings revealed a significant and moderately negative correlation between the Multidimensional Assessment of Interoceptive Awareness (MAIA) total score and the Inventory of Suicide Orientation (ISO-30) total score (r = -0.54, p < 0.001). Confidence and self-regulation were identified as the most influential factors in the relationship between MAIA and ISO-30. Significant correlations were observed (p < 0.001), indicating moderate correlation values ranging from -0.43 to -0.57. DISCUSSION: Our findings support the existence of a negative correlation between interoceptive body awareness and suicidal orientation. Further research is needed to better understand this relationship and to develop specific interventions based on body awareness to prevent suicide orientation. CONCLUSION: There are practical implications associated with recognizing the importance of body awareness in relation to decreasing suicidal orientation, and multidisciplinary teams addressing mental health can incorporate this knowledge.

Analysis of the Attitudes towards Sexuality in People with Intellectual Disabilities: A Cross-Sectional Study.

The barriers faced by people with intellectual disabilities are many. One of the areas in which many problems have been identified is the sexual domain. This descriptive study aims to analyze the attitudes of the family environment, professional carers, and the general population toward their sexuality. A cross-sectional descriptive study was carried out between 2022 and 2023, using convenience sampling among family members and carers from different centers working with people with intellectual disabilities in Spain, and among the general population not related to people with intellectual disabilities. A total of 583 responses were received and significant differences were found for all variables, with the variables related to family or work proximity being those that provided the most significant and relevant results. It was observed that the male sex has a more paternalistic attitude and that in rural areas there is a more permissive attitude towards the sexuality of people with intellectual disabilities. People who work with people with disabilities have more positive attitudes towards this group, while direct relatives have more paternalistic attitudes. Nursing care in the community and specialized centers should be based on an adequate therapeutic relationship and personalized care.

Seroprevalence, infection, and personal protective equipment use among Colombian healthcare workers during the COVID-19 pandemic.

Introduction: Healthcare workers (HCWs) are at the forefront of the COVID-19 response and frequently come into close contact with patients and their virus-contaminated body fluids. Recent studies have identified differential risks of infection and the use of personal protective equipment (PPE) among HCWs. However, available data might be interpreted with caution because of differences in the national health systems, local implementation issues, and adherence limitations to guidelines. A comprehensive description of infection, exposure at work, and biosafety habits during the COVID-19 pandemic has not been conducted among the HCW groups in Latin American populations. Objective: To describe SARS-CoV-2 seroprevalence, infections, and extent of PPE use during the COVID-19 pandemic among HCWs at three different times, including dental practitioners (DP), nursing assistants (NA), physicians (P), and respiratory therapists (RT), from Bogotá, Colombia. Methods: After IRB approval, this cross-sectional study included 307 HCWs. Participants provided nasopharyngeal swabs and blood samples to detect viral RNA (RT-qPCR) and IgM/IgG anti-SARS-CoV-2 (ELFA-ELISA) at baseline (BL) and two follow-ups. Infection prevalence was defined as the number of positive-tested participants (RT-qPCR and/or IgM). Data on clinical status and biosafety habits were collected each time. Results: Differential infection prevalence was found among HCWs through the study timeline (BL: RT-qPCR = 2.6%, IgM = 1.6%; follow-up 1 (45 days after BL): RT-qPCR = 4.5%, IgM = 3.9%; follow-up 2 (60 days after BL): RT-qPCR = 3.58%, IgM = 1.3%. Dental practitioners showed a higher infection frequency in BL and follow-up 1. IgG-positive tested HCWs percentage progressively increased from BL to follow-ups among the whole sample while index values decreased. Limitations in N95 availability and a high perception of occupational risk were reported. Conclusion: A low prevalence of active SARS-CoV-2 infections among HCWs groups was found. Over time, there was an increase in participants showing IgG antibodies, although the levels of these antibodies in the blood decreased. Additionally, HCWs reported limitations in the availability of PPE as well as a variation in their safety practices.

Tofacitinib in the treatment of moderate to severe ulcerative colitis in Colombian pediatric patients: Real world experience. / Tofacitinib en el tratamiento de la colitis ulcerosa moderada a grave en pacientes pediátricos colombianos: experiencia en mundo real.

INTRODUCTION: There are no studies on efficacy of tofacitinib for moderate-severe ulcerative colitis (UC) in pediatric patients in Latin America. The aim of this study was to describe the efficacy and safety, in real world, treated with tofacitinib in our setting. MATERIALS AND METHODS: Case series of pediatric patients with UC who received treatment with tofacitinib in induction phase for 8 weeks and then maintenance therapy between November 2021 and February 2023. RESULTS: Four female patients, median age 14.5 (SD 2.1; RIQ 12.5-16.5) years, all with prior biologic exposure, all 4 with prior use of anti-TNF, and 2/4 with prior use of anti-integrin. Clinical, biochemical and endoscopic remission was obtained in 3/4 at induction. Information was obtained from 3 patients in 6-month maintenance, 2/3 remained in clinical, biochemical and endoscopic remission and 1/3 has not achieved biochemical or endoscopic remission. Information was obtained from 1 patient in 12-month maintenance, achieving clinical and biochemical remission, however, endoscopic remission has not been achieved. One patient was initiated for severe acute UC with risk of colectomy, with significant improvement after 7 days, reaching therapeutic objectives at induction. No serious adverse events were reported in any of the cases. CONCLUSIONS: Efficacy and safety are demonstrated with tofacitinib in pediatric patients. With high percentage of response in induction treatment, sustained over time, and safe. In the context of severe acute hospitalized UC, it has a role as a potential rescue therapy due to its rapid action.

Colombian experience with the use of tofacitinib in severe acute ulcerative colitis: A case series study. / Experiencia colombiana con el uso de tofacitinib en colitis ulcerosa aguda grave: estudio de serie de casos.

INTRODUCTION: Tofacitinib is indicated in patients with moderate to severe ulcerative colitis (UC); however, given its rapid onset of action, it may constitute an alternative in patients with hospitalized severe acute UC. There are few data on this indication in the literature. The aim of this study was to describe the efficacy and safety of tofacitinib in the management of patients with hospitalized UC, as well as its clinical characteristics and other treatment patterns. MATERIALS AND METHODS: Descriptive observational study of adults and children with CUAG treated with tofacitinib between June 2019 and December 2022 in Colombia. Sociodemographic and clinical variables were collected, therapeutic response was evaluated in different periods of time and descriptive analysis of quantitative and qualitative variables was performed. RESULTS: Six patients (five adults and one pediatric), mean age 33.2 (SD: 8.5) years, with CUAG. Symptom remission was obtained in 100% of patients at day 7 after tofacitinib initiation. In three patients information was obtained beyond 6 months, with 100% clinical, biochemical, and endoscopic remission and without requiring colectomy. In the case of the pediatric patient, symptom remission was achieved one week after starting tofacitinib, remaining in clinical, biochemical and endoscopic remission beyond 6 months. No serious adverse events were reported in any of the cases. CONCLUSIONS: Tofacitinib represents a rescue therapeutic alternative in CUAG, with rapid clinical response, adequate tolerance and less need for colectomy, being sustained for periods beyond 6 months.

Are cerebrospinal fluid biochemical parameters valid to predict positive results in microbiological molecular diagnostic platforms? A 4-year experience with the FilmArray® Panel Meningitis/Encephalitis for detection of community-acquired bacterial meningitis.

OBJECTIVE: To demonstrate whether the use of the FilmArray® Meningitis/Encephalitis panel (M/E) in the diagnosis of bacterial meningitis can be optimized based on the screening of cerebrospinal fluid biochemical parameters and whether there is a correlation between biochemical data and positive results of the technique. MATERIAL AND METHODS: We used data from La Paz University Hospital between September 5, 2017 and December 1, 2021, from patients who had had the FilmArray® panel M/E performed on cerebrospinal fluid samples. RESULTS: Bacterial meningitis was suspected in 63.9% of the patients; 38.15% had a positive result on the FilmArray® panel M/E, of which 68.97% were isolated in culture. Of the biochemical parameters studied in cerebrospinal fluid, white blood cell count, lactate, and protein were increased in PCR-positive patients, but glucose was decreased. DISCUSSION: Only lactate showed a significant contribution to the model, with a cut-off point of 4.65 mmol/L with a sensitivity of 81.5% and a specificity of 96.4%.

Differential gut microbiome in spondyloarthritis patients associated to Blastocystis colonization.

The role of Blastocystis in intestinal health is an open controversy, and little is known about the potential effect of this microorganism in autoinflammatory diseases such as spondyloarthritis (SpA). Here, we analyzed the gut microbiome of 36 SpA patients and 13 control individuals and demonstrated that the richness, diversity, and taxonomic composition between these two groups are different. We also showed that colonization by Blastocystis in control individuals increases the richness and diversity of the intestinal microbiome, whereas in SpA patients, it does not seem to have any impact. This may reflect a potential role of Blastocystis in sculpting the gut microbiome architecture in control individuals, whereas in subjects with SpA, the modulation of the microbiome may be governed by disease-dependent factors that cannot be overcome by Blastocystis. Regarding taxonomic characterization, SpA patients colonized by Blastocystis showed significant increases in the phylum Pseudomonadota, class Gammaproteobacteria, family Succinivibrionaceae, and genus Succinivibrio. Simultaneously, there were significant increases in the class Bacilli, order Lactobacillales, families Lactobacillaceae and Clostridiaceae, and genera Lactobacillus and Clostridium in non-colonized SpA patients. On the other hand, PICRUSt analysis in Blastocystis-positive SpA patients showed elevations in pathways that may enhance antioxidant capacities and alleviate intestinal inflammation, while Blastocystis-negative SpA patients showed significant changes in pathways that promote cell division/proliferation and can lead to larger changes in the gut microbiome. Our analyses lead us to believe that these changes in the gut microbiome of SpA patients may trigger protective mechanisms as an initial response to inflammation in an attempt to restore balance in the intestinal environment.

Posttranslational modifications in psoriatic arthritis: A systematic literature review.

BACKGROUND AND AIMS: Psoriatic arthritis (PsA) is an inflammatory complex condition. Posttranslational modifications influence almost all aspects of normal cell biology and pathogenesis. The aim of this systematic review was to collect all published evidence regarding posttranslational modifications in PsA, and the main outcome was to evaluate an association between disease outcomes and specific posttranslational modifications in PsA. METHODS: A systematic electronic search was performed in Medline, PubMed, Cochrane, Virtual Health Library, and Embase databases. A total of 587 articles were identified; 59 were evaluated after removing duplicates and scanning, of which 47 were included. A descriptive analysis was conducted, with results grouped according to the type of posttranslational modification evaluated. The protocol was registered at the PROSPERO database. RESULTS: Seven posttranslational modifications were identified: citrullination, carbamylation, phosphorylation, glycosylation, acetylation, methylation, and oxidative stress. Anti-citrullinated peptide and anti-carbamylated protein have been evaluated in rheumatoid arthritis. There is now information suggesting that these antibodies may be helpful in improving the diagnosis of PsA and that they may demonstrate a correlation with worse disease progression (erosions, polyarticular involvement, and poor treatment response). Glycosylation was associated with increased inflammation and phosphorylation products related to the expression of SIRT2 and pSTAT3 or the presence of Th17 and cytokine interleukin-22, suggesting a possible therapeutic target. CONCLUSIONS: Posttranslational modifications often play a key role in modulating protein function in PsA and correlate with disease outcomes. Citrullination, carbamylation, phosphorylation, glycosylation, acetylation, methylation, and oxidative stress were identified as associated with diagnosis and prognosis.

Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population

ABSTRACT Introduction: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. Objectives: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. Methods: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. Results: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. Conclusions: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

Chronic inflammatory demyelinating polyradiculoneuropathy in a patient with systemic lupus erythematosus without systemic activity.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an uncommon subtype of peripheral neuropathy, especially in systemic lupus erythematosus (SLE). We report a case of SLE presenting with CIDP successfully treated. The patient presented with bilateral, progressive, ascending, sensory, and motor neuropathy. Electrodiagnostic tests reported active motor and sensitive demyelinating polyneuropathy, and the diagnosis of CIDP was confirmed according to the European Federation of Neurological Societies/Peripheral Nerve Society criteria. Initial management with intravenous immunoglobulin and high-dose steroids was administered, then 6-month intravenous cyclophosphamide was initiated with improvement according to clinical scales. In conclusion, CIDP in SLE is rare, reported in just 0.2%. Immunosuppressive therapy should be considered whether initial improvement is not evidenced, as seen in our case requiring cyclophosphamide; interestingly, systemic activity was in remission as the peripheral nervous system is not part of neurological compromise, and we suggest evaluating this unusual presentation into rheumatological practice.

Metastatic Crohn's disease: a difficult diagnosis from different perspectives

Metastatic Crohn's disease (MCD) is a rare cutaneous manifestation of Crohn's disease (CD). The simultaneous involvement of the vulva and oral region is uncommon in clinical presentations of MCD. We present the case of a middle-aged woman with a family history of autoimmunity who initially presented with oral and vulvoperineal involvement. Initially, Behçet's disease was ruled out, but histopathological studies of the vulva revealed findings compatible with MCD. The patient had no gastrointestinal symptoms, and fecal calprotectin levels were normal. Upper and lower endoscopic examinations and capsule endoscopy of the small intestine (SI) did not reveal any significant findings. Treatment with anti-tumor necrosis factor (anti-TNF) agents was initiated but resulted in paradoxical psoriasis with adalimumab and infliximab. Cyclosporine was also used, but the patient experienced intolerable tachycardia. After 18 months, the patient developed episcleritis and experienced diarrhea accompanied by cramp-like abdominal pain. Repeat upper and lower endoscopic examinations showed normal results, while capsule endoscopy of the SI revealed CD enteritis. The patient was diagnosed with CD of the small intestine, along with extraintestinal manifestations of vulvoperineal MCD, oral involvement, and episcleritis. Management with azathioprine and ustekinumab was initiated, resulting in significant clinical improvement. MCD poses a diagnostic challenge due to its unusual manifestations. It may present without gastrointestinal tract involvement, mimicking other conditions. Therefore, timely diagnosis and the selection of the most appropriate therapeutic strategy are crucial.

La enfermedad de Crohn metastásica (ECM) es una entidad rara, es una manifestación cutánea en enfermedad Crohn (EC), y en su presentación clínica es inusual el compromiso vulvar y oral de modo concomitante. Se describe el caso de una mujer de edad media que tiene historia familiar de autoinmunidad, presenta inicialmente compromiso oral y vulvoperineal. En su abordaje inicial se descartó enfermedad de Behçet, pero los estudios histopatológicos a nivel vulvar tuvieron hallazgos compatibles para ECM. Hubo ausencia de síntomas gastrointestinales y sus niveles de calprotectina fecal eran normales. Los estudios endoscópicos altos y bajos, y la cápsula endoscópica del intestino delgado (ID) no tuvieron hallazgos relevantes. Se inició el tratamiento con antifactor de necrosis tumoral (anti-TNF) y presentó una psoriasis paradójica con adalimumab e infliximab. También se utilizó ciclosporina y presentó una taquicardia intolerable. 18 meses después de estos síntomas tuvo epiescleritis e inició con diarrea asociada a dolor abdominal tipo cólico, por lo que se repitieron los estudios endoscópicos altos y bajos, que resultaron normales, y cápsula endoscópica de ID mostró una enteritis por EC. Se consideró EC de ID con manifestaciones extraintestinales y con ECM vulvoperineal, compromiso oral y epiescleritis. Se requirió manejo con azatioprina y ustekinumab, con una mejoría clínica significativa. La ECM es un reto diagnóstico, pues es una manifestación inusual; en su debut puede haber ausencia de compromiso en el tracto gastrointestinal y también simular otras entidades. Debe buscarse lograr el diagnóstico oportuno y la estrategia terapéutica más segura.