BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry.

Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan-Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10-5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between genotypes. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population

The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics.

Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population

Prevención de enfermedades y de la muerte de terneros doble propósito del trópico bajo Colombiano

Las enfermedades y la muerte de terneros ocasionan grandes pérdidas económicas en la industria ganadera de todo el mundo. En los estados unidos en el año 1991 murieron 2.786.300 cabezas de terneros para carne, ocasionando pérdidas por 976 millones de dólares. Los estudios de seguimiento en las empresas de los ganaderos demuestran que la muerte de los terneros produjo pérdidas de $314 por cada vaca durante un año.Ganado de doble propósito-Ganaderia doble proposit

Anti tumor necrosis factor therapy in Juvenile idiopathic arthritis

A partir del beneficio observado en adultos con artritis reumatoide tratados con antagonistas del factor de necrosis tumoral, ha habido un interés creciente en expandir su utilización a los niños. Sin embargo, diversas condiciones propias de la reumatología pediátrica determinan que la evidencia disponible sea escasa o de un bajo nivel de calidad. Fruto de la revisión crítica de la literatura y de una reunión de consenso, se presenta una Guía de Práctica Clínica, cuyo propósito es ofrecer recomendaciones que orienten el uso racional de estos medicamentos.From benefits observed in adults suffering rheumatoid arthritis treated with antagonists of tumoral necrosis factor, there was a growing interest about its use in children. However several conditions pertaining to pediatric rheumatology determine that available evidence be poor or of low quality. As a result of a critical review of the literature and after a consensus meeting a Practical Clinical Guide is presented: its purpose consist in offering recommendations for the rational use of these medications

Anti tumor necrosis factor therapy in Juvenile idiopathic arthritis

A partir del beneficio observado en adultos con artritis reumatoide tratados con antagonistas del factor de necrosis tumoral, ha habido un interés creciente en expandir su utilización a los niños. Sin embargo, diversas condiciones propias de la reumatología pediátrica determinan que la evidencia disponible sea escasa o de un bajo nivel de calidad. Fruto de la revisión crítica de la literatura y de una reunión de consenso, se presenta una Guía de Práctica Clínica, cuyo propósito es ofrecer recomendaciones que orienten el uso racional de estos medicamentos.From benefits observed in adults suffering rheumatoid arthritis treated with antagonists of tumoral necrosis factor, there was a growing interest about its use in children. However several conditions pertaining to pediatric rheumatology determine that available evidence be poor or of low quality. As a result of a critical review of the literature and after a consensus meeting a Practical Clinical Guide is presented: its purpose consist in offering recommendations for the rational use of these medications

BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry.

Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan-Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10-5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between genotypes. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population

Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk.

Thyroid cancer (TC) is the second most common cancer among Hispanic women. Recent genome-wide association (GWA) and candidate studies identified 6 single nucleotide polymorphisms (SNPs; rs966423, rs2439302, rs965513, rs6983267, rs944289, and rs116909374), associated with increased TC risk in Europeans but their effects on disease risk have not been comprehensively tested in Hispanics. In this study, we aimed to describe the main clinicopathological manifestations and to evaluate the effects of known SNPs on TC risk and on clinicopathological manifestations in a Hispanic population.We analyzed 281 nonmedullary TC cases and 1146 cancer-free controls recruited in a multicenter population-based study in Colombia. SNPs were genotyped by Kompetitive allele specific polymerase chain reaction (KASP) technique. Association between genetic variants and TC risk was assessed by computing odds ratios (OR) and confidence intervals (CIs).Consistent with published data in U.S. Hispanics, our cases had a high prevalence of large tumors (>2 cm, 43%) and a high female/male ratio (5:1). We detected significant associations between TC risk and rs965513A (OR = 1.41), rs944289T (OR = 1.26), rs116909374A (OR = 1.96), rs2439302G (OR = 1.19), and rs6983267G (OR = 1.18). Cases carried more risk alleles than controls (5.16 vs. 4.78, P = 4.8 × 10). Individuals with ≥6 risk alleles had >6-fold increased TC risk (OR = 6.33, P = 4.0 × 10) compared to individuals with ≤2 risk alleles. rs944289T and rs116909374A were strongly associated with follicular histology (ORs = 1.61 and 3.33, respectively); rs2439302G with large tumors (OR = 1.50); and rs965513A with regional disease (OR = 1.92).To our knowledge, this is the first study of known TC risk variants in South American Hispanics and suggests that they increase TC susceptibility in this population and can identify patients at higher risk of severe disease

The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics.

Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population

Pregnancy-associated purpura fulminans (PF) Púrpura fulminans asociada al embarazo

<p>PF is a serious cutaneous purpuric disease, associated with an intravascular disseminated coagulation syndrome. Among its known causes, besides those of thrombophilia, are viral and bacterial infections, mostly Neisseria meningitidis. During pregnancy there are alterations in the hemostatic mechanism. However, by themselves, they have not been shown to lead to PF. The case of a 22-year-old woman who developed PF during pregnancy, presumably due to her Escherichia coli urinary tract infection, is presented including clinical, paraclinical, therapeutic and surgical aspects. She recovered but suffered amputation of the distant phalanges of three toes in the left foot </p> La púrpura fulminans (pf) es una enfermedad cutánea purpúrica aguda asociada a un síndrome de coagulación intravascular diseminada (CID). Sus causas conocidas incluyen infecciones virales y bacterianas así como trombofilias. Es sabido que durante el embarazo existen alteraciones en los mecanismos hemostáticos, sin embargo, no se ha demostrado que estos fenómenos por sí solos ayuden al desarrollo de la PF. Se describe el caso de una mujer de 22 años, quien tuvo PF en circunstancias inusuales tales como el desarrollo de su cuadro durante el embarazo y el origen probable en una infección por E. coli. Se presentan los hallazgos clínicos, las intervenciones médicas y quirúrgicas y el desenlace. La paciente sobrevivió, pero hubo necesidad de amputarle las falanges distales de tres artejos del pie izquierdo