Tumor infiltrating lymphocytes (TILs) are a prognosis biomarker in Colombian patients with triple negative breast cancer.

Triple negative breast cancer (TNBC) is highly immunogenic and high levels of tumor infiltrating lymphocytes (TILs) have been associated with a better prognosis and higher probability to achieve pathological complete response. Here, we explore the potential role of stromal TILs level and composition as a prognostic and predictive biomarker in TNBC. 195 Tumor biospecimens from patients diagnosed with TNBC were included. Stromal TILs (sTILs), positive CD4/CD8 cells were evaluated. Differences in clinic-pathological characteristics according to immune infiltration were assessed. The predictive and prognostic value of immune infiltration was analyzed by multivariate models. Higher immune infiltration was observed in patients with favorable clinical-pathological features. Survival analysis showed that longer overall survival times were observed in patients with a higher infiltration of sTILs (p = 0.00043), CD4 + (p = 0.0074) and CD8 + (p = 0.008). In the multivariate analysis, low levels of sTILs were found to be associated with a higher mortality hazard (HR: 1.59, 95% CI 1.01-2.48). CD4 and CD8 immune infiltration were associated with higher odds for pathological complete response (OR: 1.20, 95% CI 1.00-1.46, OR: 1.28, 1.02-1.65, respectively). Our results suggest that immune infiltration could be used as a prognostic marker for overall survival in TNBC patients.

Biochars from Olive Stones as Carbonaceous Support in Pt/TiO2-Carbon Photocatalysts and Application in Hydrogen Production from Aqueous Glycerol Photoreforming.

Several biochars were synthesized from olive stones and used as supports for TiO2, as an active semiconductor, and Pt as a co-catalyst (Pt/TiO2-PyCF and Pt/TiO2-AC). A third carbon-supported photocatalyst was prepared from commercial mesoporous carbon (Pt/TiO2-MCF). Moreover, a Pt/TiO2 solid based on Evonik P25 was used as a reference. The biochars used as supports transferred, to a large extent, their physical and chemical properties to the final photocatalysts. The synthesized catalysts were tested for hydrogen production from aqueous glycerol photoreforming. The results indicated that a mesoporous nature and small particle size of the photocatalyst lead to better H2 production. The analysis of the operational reaction conditions revealed that the H2 evolution rate was not proportional to the mass of the photocatalyst used, since, at high photocatalyst loading, the hydrogen production decreased because of the light scattering and reflection phenomena that caused a reduction in the light penetration depth. When expressed per gram of TiO2, the activity of Pt/TiO2-PyCF is almost 4-times higher than that of Pt/TiO2 (1079 and 273 mmol H2/gTiO2, respectively), which points to the positive effect of an adequate dispersion of a TiO2 phase on a carbonaceous support, forming a highly dispersed and homogeneously distributed titanium dioxide phase. Throughout a 12 h reaction period, the H2 production rate progressively decreases, while the CO2 production rate increases continuously. This behavior is compatible with an initial period when glycerol dehydrogenation to glyceraldehyde and/or dihydroxyacetone and hydrogen predominates, followed by a period in which comparatively slower C-C cleavage reactions begin to occur, thus generating both H2 and CO2.

Structure, Process, and Mortality Associated with Acute Coronary Syndrome Management in Guatemala's National Healthcare System: The ACS-GT Registry.

Background: Acute coronary syndromes (ACS) include ST-segment elevation myocardial infarction (STEMI), non-ST-segment elevation myocardial infarction (NSTEMI), and unstable angina (UA). The leading cause of mortality in Guatemala is acute myocardial infarction (AMI) and there is no established national policy nor current standard of care. Objective: Describe the factors that influence ACS outcome, evaluating the national healthcare system's quality of care based on the Donabedian health model. Methods: The ACS-Gt study is an observational, multicentre, and prospective national registry. A total of 109 ACS adult patients admitted at six hospitals from Guatemala's National Healthcare System were included. These represent six out of the country's eight geographic regions. Data enrolment took place from February 2020 to January 2021. Data was assessed using chi-square test, Student's t-test, or Mann-Whitney U test, whichever applied. A p-value < 0.05 was considered statistically significant. Results: One hundred and nine patients met inclusion criteria (80.7% STEMI, 19.3% NSTEMI/UA). The population was predominantly male, (68%) hypertensive (49.5%), and diabetic (45.9%). Fifty-nine percent of STEMI patients received fibrinolysis (alteplase 65.4%) and none for primary Percutaneous Coronary Intervention (pPCI). Reperfusion success rate was 65%, and none were taken to PCI afterwards in the recommended time period (2-24 hours). Prognostic delays in STEMI were significantly prolonged in comparison with European guidelines goals. Optimal in-hospital medical therapy was 8.3%, and in-hospital mortality was 20.4%. Conclusions: There is poor access to ACS pharmacological treatment, low reperfusion rate, and no primary, urgent, or rescue PCI available. No patient fulfilled the recommended time period between successful fibrinolysis and PCI. Resources are limited and inefficiently used.

SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas.

Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerología, Colombia (INC-C), the largest reference cancer center in the country. Ten of 19 patients (52.63%) were identified as carriers of a pathogenic/likely pathogenic (P/LP) germline variant in a known susceptibility gene. The majority of the P/LP variants were in the SDHB gene (9/10): one corresponded to a nonsense variant c.268C>T (p.Arg90*) and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1, explaining 42% (8/19) of all the affected cases. Only one additional case was found to be a carrier of a missense mutation in the VHL gene: c.355T>C (p.Phe119Leu). Our study highlights the major role of SDHB in Colombian patients with a clinical diagnosis of PGL/PCC tumors and supports the recommendation of including the analysis of large deletions/duplications of the SDHB gene as part of the genetic counselling to improve the detection rate of hereditary cases and their clinical care.

hTERT Protein Expression in Cytoplasm and Nucleus and its Association With HPV Infection in Patients With Cervical Cancer.

BACKGROUND: Few studies have analyzed the association between human telomerase reverse transcriptase (hTERT) protein expression (nuclear and cytoplasmic localization), hTERT methylation status, and human papillomavirus (HPV) genotype infection in cervical cancer. PATIENTS AND METHODS: One hundred seventy-three patients with cervical cancer were analyzed. hTERT protein expression was detected by immunohistochemistry. hTERT DNA methylation analysis was performed using a PCR-RLB-hTERT assay, targeting two regions of the hTERT promoter. Type specific HPV infection was detected by using GP5+/GP6+PCR-RLB. RESULTS: hTERT protein expression was found in both cytoplasm and nucleus (78.0% of the samples showed a cytoplasmic localization and 79.8% had a nuclear localization). A statistically significant association was found between alpha 9 and 7 HPV species with a non-methylation pattern of the hTERT promoter and between these species and high expression of hTERT protein with nuclear localization. CONCLUSION: hTERT protein is found in both the nucleus and cytoplasm of patients with cervical cancer and confirm the relationship between the non-methylated status of hTERT promoter and some HPV species as well as the relationship between these species and hTERT protein expression.

Hipertrofia lipomatosa del septum interatrial: reporte de un caso / Lipomatous hypertrophy of the interatrial septum. A case report

Resumen La hipertrofia lipomatosa del septum interauricular (HLSI) es una entidad cardiaca rara y benigna, que se caracteriza por la acumulación de tejido adiposo dentro de algunos segmentos del septum interatrial. Generalmente, los pacientes son asintomáticos y estas lesiones se descubren de manera incidental mediante estudios de imagen realizados por otras razones, o en el contexto de una autopsia. Se han descrito casos de muerte súbita por alteración del ritmo cardiaco en estos pacientes. El diagnóstico diferencial de la HLSI incluye principalmente tumores cardiacos. Se expone el caso de un paciente de 61 años que, después de un estudio de resonancia magnética cardiaca, realizado por una alteración del ritmo cardiaco, presenta una masa en el septum auricular. El paciente es llevado a cirugía y el estudio histopatológico de la lesión confirma el diagnóstico. Se realiza una revisión de las características clínicas y patológicas de la HLSI.

Abstract Lipomatous Hypertrophy of the Interatrial Septum (LHIS) is a rare and benign cardiac entity that is characterized by the accumulation of adipose tissue within some segments of the interatrial septum. Patients are generally asymptomatic, and these lesions are discovered incidentally by imaging studies performed for other reasons, or in the context of an autopsy. In these patients, there have been described cases of sudden death due to disturbance of the heart rhythm. The differential diagnosis of LHIS mainly includes cardiac tumors. Here we present a case of a 61-year-old patient in whom, after a cardiac magnetic resonance study performed for an abnormal heart rhythm, it was documented a mass in the atrial septum. The patient was taken to surgery, and the histopathological study of the lesion confirmed the diagnosis. We conduct a review of the clinical and pathological characteristics of LHIS.

Hibridación in situ fluorescente (FISH) en el Instituto Nacional de Cancerología (INC) de Colombia. Experiencia de 5 años / Fluorescent in situ hybridization (FISH) in the National Institute of Cancerology (INC) of Colombia. 5 years experience

Resumen Introducción: La hibridación in situ fluorescente (FISH) es una herramienta fundamental en oncopatología para confirmar el diagnóstico de algunas patologías, al igual que determinar el pronóstico y el tratamiento. Objetivo: Describir la experiencia del Instituto Nacional de Cancerología de Colombia (INC) con la técnica de FISH en las diferentes neoplasias hematológicas y tumores sólidos para conocer el comportamiento molecular de nuestra población. Materiales y métodos: Se realizó un estudio descriptivo retrospectivo de todos los resultados de FISH que se han realizado en tumores hematológicos y tumores sólidos en el laboratorio de Genética y Oncología Molecular del INC, entre 2012 y 2016. Resultados: En total se realizaron 1.713 pruebas de FISH, 1.010 (59%) fueron desarrolladas en neoplasias de origen hematolinfoide y 703 (41%) en tumores sólidos, de estos 428 (61%) correspondieron para HER2 de cáncer de seno. En tumores de tejidos blandos fueron evaluadas las sondas MDM2/CDK4, EWSR1, SS18, FUS, CHOP observando positividad en el 10%, el 43%, el 44%, el 20% y el 63%, respectivamente. En cáncer de pulmón se observó positividad en el 12%. Además se realizó estudios para la detección de melanoma y para la detección la codeleción del 1p/19q en gliomas. Discusión: En el INC de Colombia se confirmó la utilidad de la técnica de FISH como complemento en el diagnóstico, el pronóstico y el factor predictivo en el manejo de pacientes con cáncer. Observamos que la prevalencia de algunas pruebas varían de la reportadas en la literatura médica (C-MYC para linfomas, ALK para cáncer de pulmón).

Abstract Introduction: Fluorescent in situ hybridization (FISH) is a fundamental tool in oncopathology to confirm the diagnosis of some pathologies, as well as to determine the prognosis and treatment. Keywords: FISH; Hybridization; Lymphomas; Leukemia; Sarcomas; HER2 Objective: To describe the experience of the FISH in the National Institute of Cancerology of Colombia (INC) in different hematological malignancies and solid tumors to know the molecular behavior of our population. Materials and methods: A retrospective descriptive study was conducted of all the FISH results that have been carried out in the Genetics and Molecular Oncology laboratory of the INC between 2012 and 2016 in hematological tumors and solid tumors. Results: A total of 1713 FISH tests were performed, 1010 (59%) were developed in neoplasms of hematolymphoid origin and 703 (41%) in solid tumors, of these 428 (61%) corresponded to breast cancer (HER2). In soft tissue tumors, MDM2 / CDK4, EWSR1, SS18, FUS, CHOP probes were evaluated, observing positivity in 10%, 43%, 44%, 20% and 63%, respectively. In lung cancer, it has observed positivity in 12%. In addition, studies have been carried out to detect melanoma and to detect the 1p / 19q deletions in gliomas. Discussion: The INC of Colombia confirms the usefulness of the FISH technique as a complement in the diagnosis, prognosis and predictive factor in the management of patients with cancer. We observed that the prevalence of some tests varies from that reported in the medical literature (C-MYC for lymphomas, ALK for lung cancer).

Ancestry as a potential modifier of gene expression in breast tumors from Colombian women.

BACKGROUND: Hispanic/Latino populations are a genetically admixed and heterogeneous group, with variable fractions of European, Indigenous American and African ancestries. The molecular profile of breast cancer has been widely described in non-Hispanic Whites but equivalent knowledge is lacking in Hispanic/Latinas. We have previously reported that the most prevalent breast cancer intrinsic subtype in Colombian women was Luminal B as defined by St. Gallen 2013 criteria. In this study we explored ancestry-associated differences in molecular profiles of Luminal B tumors among these highly admixed women. METHODS: We performed whole-transcriptome RNA-seq analysis in 42 Luminal tumors (21 Luminal A and 21 Luminal B) from Colombian women. Genetic ancestry was estimated from a panel of 80 ancestry-informative markers (AIM). We categorized patients according to Luminal subtype and to the proportion of European and Indigenous American ancestry and performed differential expression analysis comparing Luminal B against Luminal A tumors according to the assigned ancestry groups. RESULTS: We found 5 genes potentially modulated by genetic ancestry: ERBB2 (log2FC = 2.367, padj<0.01), GRB7 (log2FC = 2.327, padj<0.01), GSDMB (log2FC = 1.723, padj<0.01, MIEN1 (log2FC = 2.195, padj<0.01 and ONECUT2 (log2FC = 2.204, padj<0.01). In the replication set we found a statistical significant association between ERBB2 expression with Indigenous American ancestry (p = 0.02, B = 3.11). This association was not biased by the distribution of HER2+ tumors among the groups analyzed. CONCLUSIONS: Our results suggest that genetic ancestry in Hispanic/Latina women might modify ERBB2 gene expression in Luminal tumors. Further analyses are needed to confirm these findings and explore their prognostic value.

Association Between Type-specific HPV Infections and hTERT DNA Methylation in Patients with Invasive Cervical Cancer.

BACKGROUND: There exists limited information on the role of hTERT methylation, and its association with type-specific HPV infections in cervical cancer. MATERIALS AND METHODS: Eighty-seven frozen samples were analyzed for type-specific HPV infection using a GP5+/GP6+ PCR-RLB assay (RLB). hTERT DNA methylation analysis was performed using a newly developed PCR-RLB-hTERT. RESULTS: Ninety-three percent of samples were HPV-positive and fifteen different types were detected. hTERT methylation analysis of region 1 revealed no methylation in 78.8% of the samples and partial methylation in 21.2%. In region two, 68.2% showed no methylation and 31.8% showed a pattern of partial methylation. An association between the alpha 9 and alpha 7 species with a pattern of no methylation of hTERT in the region 1 was established (p=0.02 and p=0.03, respectively). CONCLUSION: Differences in patterns of methylation of the hTERT core promoter [region 1 (nt -208 to -1) and region 2 (nt +1 to +104) relative to first ATG] are related to the HPV species present.

High prevalence of luminal B breast cancer intrinsic subtype in Colombian women.

Breast cancer is the most frequent malignancy in women worldwide. Distinct intrinsic subtypes of breast cancer have different prognoses, and their relative prevalence varies significantly among ethnic groups. Little is known about the prevalence of breast cancer intrinsic subtypes and their association with clinicopathological data and genetic ancestry in Latin Americans. Immunohistochemistry surrogates from the 2013 St. Gallen International Expert Consensus were used to classify breast cancers in 301 patients from Colombia into intrinsic subtypes. We analyzed the distribution of subtypes by clinicopathological variables. Genetic ancestry was estimated from a panel of 80 ancestry informative markers. Luminal B breast cancer subtype was the most prevalent in our population (37.2%) followed by luminal A (26.3%), non-basal triple negative (NBTN) (11.6%), basal like (9%), human epidermal growth factor receptor 2 (HER2) enriched (8.6%) and unknown (7.3%). We found statistical significant differences in distribution between Colombian region (P = 0.007), age at diagnosis (P = 0.0139), grade (P < 0.001) and recurrence (P < 0.001) according to intrinsic subtype. Patients diagnosed with HER2-enriched, basal-like and NBTN breast cancer had the highest African ancestry. Future studies analyzing the molecular profiles of breast cancer in Colombian women will help us understand the molecular basis of this subtype distribution and compare the molecular characteristics of the different intrinsic subtypes in Colombian patients.

Duplicación cráneo-facial (diprosopus) con trioftalmos diagnosticado mediante ecografía obstétrica 3D / Craniofacial duplication (diprosopus) with trioftalmos, diagnosed by 3D obstetric ultrasound

La duplicación cráneo-facial (diprosopus) es el resultado de la forma menos común de gemelos acoplados. La utilización de la ecografía 3D para el diagnóstico de esta patología ha sido reportada. Se presenta el segundo caso de esta patología en Colombia. Caso clínico de hijo de madre de 28 años a quien se le realizó diagnóstico prenatal con ecografía 3D, de duplicación craneofacial y de la columna vertebral. Cariotipo prenatal bandeo G: 46, XX. Al nacimiento se encontró feto de sexo femenino con duplicación craneofacial con la presencia de tres ojos, dos narices y dos bocas, con presencia de columna vertebral duplicada hasta la región cervical con espina bífida a nivel cervical. La utilización de ecografía 3D, permite realizar un diagnóstico oportuno de esta patología, lo que permite un abordaje multidisciplinario de las gestantes(AU)

Craniofacial duplication (diprosopus) is the result of the less common form of coupled twins. The use of 3D ultrasound for diagnosis of this disease has been reported.A second case of this disease occurs in Colombia. A clinical case of a son of 28-year-old mother, who underwent prenatal diagnosis with 3D ultrasound of craniofacial duplication and spine.Prenatal karyotype banding G: 46XX. At birth, a female fetus was found with craniofacial duplication, the presence of three eyes, two noses and two mouths, the presence of duplicate backbone up to the cervical region, and spina bifida at the cervical level. The use of 3D ultrasound allows early diagnosis of this disease, allowing a multidisciplinary approach of pregnant women(AU)

Procoagulant microparticles are increased in patients with Behçet's disease but do not define a specific subset of clinical manifestations.

Microparticles (MP) are considered a key component in the haemostatic response. Beyond their in vitro procoagulant properties, a number of pieces of evidence points to procoagulant MP as efficient effectors in the haemostatic response and as pathogenic markers of thrombotic disorders and vascular damage. The aim of the present study was to analyze the procoagulant activity of MP and its correlation with clinical manifestations focusing on vascular involvement in patients with Behçet's disease (BD). We analyzed 55 BD patients in inactive phase of the disease (26 men; mean age, 35 ± 15 years) of which 19 had previously suffered from thrombosis (deep venous thrombosis in 17 and ischemic stroke in 2), and 73 healthy controls matched for age and sex. Procoagulant MP were assessed by a functional assay. BD patients showed higher procoagulant MP values than controls (22.89 ± 15.74 nM versus 14.47 ± 7.34 nM; p < 0.0001). Conversely, we did not find differences in the levels of procoagulant MP according to the gender of patients (22.22 ± 16.23 nM for men versus 21.46 ± 16.47 for women; p = 0.846) or to previous and current treatments. Moreover, the plasmatic concentration of MP does not define any clinical phenotype and it was not related to the time of evolution of the disease. Although inactive BD patients had high values of procoagulant MP, they did not differentiate between BD patients with or without thrombosis.

Efecto del secado frente al lavado peritoneal sobre la mortalidad y las complicaciones en la peritonitis secundaria / Effect of peritoneal cleaning versus peritoneal lavage upon mortality and complications in secondary peritonitis

Introducción. El control adecuado del foco infeccioso en la peritonitis es la piedra angular del tratamiento. Objetivo. Evaluar los resultados de la limpieza peritoneal comparada con el lavado peritoneal rutinario, en términos de complicaciones abdominales tempranas y muerte, en pacientes con peritonitis secundaria focal o difusa. Materiales y métodos. Se hizo un análisis retrospectivo de los pacientes con peritonitis que consultaron al Hospital Universitario San Vicente Fundación, entre 2009 y 2015, que cumplieran los criterios de inclusión y que fueron sometidos a cirugía para un control infeccioso inicial, con limpieza de la cavidad o con lavado peritoneal rutinario. Resultados. Se incluyeron 406 pacientes, 169 con limpieza peritoneal y 237 con lavado peritoneal. Se encontró que tener peritonitis en más de un cuadrante (odds ratio, OR=3,2; IC95% 1,74-5,79), líquido purulento o fecaloide (OR=3,7; IC 95% 1.80-7.73) y origen no apendicular (OR=2,41; IC95% 1,32-4,38), se asociaba con la práctica del lavado. Los factores relacionados con el desarrollo general de complicaciones fueron: ostomía (OR=3,25; IC95% 1,22-8,66), abdomen abierto (OR=7,0; IC95% 3,0-16,4) e ingreso a la unidad de cuidados intensivos (OR=3,93; IC95% 1,90-8,13). El lavado se asoció con el desarrollo de peritonitis residual (OR=4,83; IC95% 2,02-11,5) al compararlo con la limpieza peritoneal. Conclusiones. El manejo conservador de la peritonitis, controlando el foco infeccioso solo con limpieza, parece tener menos complicaciones (peritonitis residual, abdomen abierto, bacteriemia, necesidad de cuidados intensivos) y menor mortalidad que el lavado rutinario. Se requieren más estudios para validar dichos hallazgos.

Introduction: Control of infection in peritonitis is the cornerstone of treatment. The objective of this study was to evaluate the results of peritoneal cleaning compared to routine peritoneal lavage in terms of early abdominal complications and mortality in patients with focal or diffuse secondary peritonitis. Methods: We conducted a retrospective analysis of patients with peritonitis admitted to the Hospital Universitario San Vicente Fundación (Medellín, Colombia) in the period 2009 to 2015, which met the inclusion criteria and that were taken to surgery for initial infection control by cleaning or routine peritoneal lavage. Results: 406 patients were included, 169 underwent peritoneal cleaning and 237 peritoneal lavage. The finding of peritonitis in more than one quadrant (OR 3.2; 95% CI 1.74-5.79), liquid fecaloid/purulent (OR 3.7; 95% CI 1.80-7.73), and not of appendicular origin (OR 2.41; 95% CI 1.32-4.38) was associated with the election of peritoneal lavage. Factors related to the development of complications were, ostomy (OR 3.25 95% CI 1.22-8.66), open abdomen (OR 7.0; 95% CI 3.0-16.4), and admission to intensive care unit (OR 3.93 95% CI 1.90-8.13). Lavage is associated with the development of residual peritonitis (OR 4.83, 95% CI 2.02-11.5) when compared with the group of peritoneal cleaning. Conclusions: Conservative management of peritonitis controlling the infectious focus with only cleaning seems to have less complications (residual peritonitis, open abdomen, bacteremia, admission to ICU), and lower mortality than routine lavage. Further studies are needed to validate these findings.

Endogenous thrombin potential in Behçet's disease: relationship with thrombosis and anticoagulant therapy.

OBJECTIVES: To analyse the relationship between an automated thrombin generation test, the endogenous thrombin potential (ETP), and other hypercoagulability markers, with vascular involvement in patients with Behçet's disease (BD). Patients and methods. We analysed 56 BD patients (30 men; mean age, 34.4 ± 14.3 years) without any known thrombophilic factor, of which 17 had previously suffered from thrombosis (deep venous thrombosis in 14 and ischaemic stroke in 3), and 56 controls matched for age and sex. Additionally, we also evaluated 20 plasma samples with an international normalised ratio (INR) between 1.5 and 5.0 obtained from patients with atrial fibrillation but without a history of embolic events that were under treatment with acenocumarol. Thrombin generation was measured as ETP with a chromogenic assay in an automated analyser. Factor VIII, von Willebrand factor antigen, prothrombin fragment 1.2, D-dimer and plasmin-antiplasmin complexes were also measured. RESULTS: BD patients showed higher ETP values than controls (471.3± 49.3 vs. 427.5± 31.3 mA; p<0.001). Additionally, BD patients with a history of thrombosis had higher ETP values than patients without thrombosis (496.6± 36.5 vs. 460.7± 50.5 mA; p<0.01). Factor VIII and von Willebrand factor antigen were also elevated in BD patients, but only von Willebrand factor antigen showed statistically significant differences between BD patients with and without thrombosis. Acenocumarol treatment reduced thrombin generation in BD patients in parallel to INR levels, reaching values similar to those of patients with atrial fibrillation and similar INR. CONCLUSIONS: BD is associated with thrombosis, and increased thrombin generation (measured as ETP) is a promising marker of hypercoagulability.

Diagnóstico prenatal de gastrosquisis recurrente en Cali, Colombia: reporte de un caso y revisión de la literatura / Diagnosis of recurrent gastroschisis in Cali, Colombia: a case report and review of the literature

Objetivo: hacer una revisión de la literatura acerca de la fisiopatología en gastrosquisis, en especial lo relativo a las teorías de etiología genética de esta patología.Materiales y métodos: se presenta el caso clínico de un feto y posterior neonato con diagnóstico de gastrosquisis en una madre con historia previa de otro hijo con la misma patología. Se desarrolló una búsqueda de la literatura en la base de datos Medline/PubMed publicada en español e inglés durante el periodo comprendido entre enero de 2000 a enero de 2013. Se utilizaron los términos: gastrosquisis, pared abdominal, anomalías, genética. Se incluyeron artículos de revisión, reporte de casos y estudios de corte transversal.Resultados: se revisaron 90 artículos relacionados sobre los factores de riesgo implicados en el desarrollo de la gastrosquisis, y 23 artículos relacionados con gastrosquisis y genética. La gastrosquisis que se produce en los hermanos es rara, hay solo 14 casos publicados de gastrosquisis familiar en la literatura. Varios estudios epidemiológicos han identificado complejas interacciones entre factores ambientales y múltiples genes.Conclusión: la gastrosquisis constituye un evento poco frecuente y es de etiología incierta. Esta condición permanece como un dilema epidemiológico y patogenético. Se requiere investigación adicional para aclarar la etiología multifactorial de la gastrosquisis.

Objective: To review the literature on the pathophysiology of gastroschisis, in particular as refers to the theories of the genetic aetiology of this condition.Materials and methods: Presentation of a clinical case of a foetus and subsequent neonate diagnosed with gastroschisis, born to a mother with a prior history of another child with gastroschisis. A search was conducted in the Medline/Pubmed database of the literature published in Spanish and English during the period between January 2000 and January 2013. The terms used were gastroschisis, abdominal wall abnormalities, and genetics. Review articles, case reports and cross-sectional studies were included.Results: Overall, 90 articles relating to the risk factors involved in the development of gastroschisis and 23 articles relating to gastroschisis and genetics were reviewed. Gastroschisis occurring in siblings is rare, and there are only 14 cases of familial gastroschisis published in the literature. Several epidemiological studies have identified complex interactions between environmental factors and multiple genes.Conclusion: Gastroschisis is an infrequent event of uncertain aetiology. This condition continues to be an epidemiological and pathogenic dilemma. Additional research is required to elucidate the multifactorial aetiology of gastroschisis.

Embarazo gemelar monocoriónico monoamniótico: Presentación de tres casos y revisión de la literatura / Monochorionic monoamniotic twin pregnancy: Three cases presented and review of the literature

Objetivo: realizar el reporte de casos de embarazo gemelar monocoriónico monoamniótico con entrecruzamiento de cordones y hacer una revisión de la literatura respecto al pronóstico de este tipo de gestación, seguimiento prenatal e intervenciones de manejo hasta su finalización. Materiales y métodos: se presenta el reporte de tres casos que ocurrieron en el Hospital Universitario del Valle, Cali, Colombia, centro de referencia de nivel III del suroccidente colombiano, el cual atiende población embarazada de alto riesgo obstétrico. Se desarrolló una búsqueda de la literatura en la base de datos Medline/Pubmed publicada en español e inglés durante el periodo comprendido entre enero de 1990 a mayo 2013. Se utilizaron los términos: “gemelos”, “gemelos monocigóticos”, “embarazo múltiple”, “embarazo gemelar”. Se incluyeron artículos de revisión, reporte de casos y estudios de corte transversal. Resultados: se revisaron 23 artículos de los cuales 5 correspondieron a artículos de revisión, 7 reportes de casos y 11 estudios de corte trasversal. La información acerca de las tasas de mortalidad, evaluación prenatal, seguimiento, manejo de las complicaciones, momento y modo del nacimiento en gemelos monoamnióticos es controversial. Conclusión: la gestación gemelar monocorial monoamniótica constituye un evento poco frecuente. Esta condición está asociada con múltiples complicaciones obstétricas que incluyen la muerte fetal relacionada con accidentes de los cordones umbilicales (entrecruzamientos). El objetivo del cuidado prenatal constituye la prevención de la mortalidad fetal, por lo que se sugiere la realización continua de pruebas de bienestar fetal. Se ha propuesto la terminación del embarazo en la semana 34 de gestación por operación cesárea, previa administración de esteroides.

Objective: To report cases of monochorionic monoamniotic twin pregnancy with cord entanglement, and conduct a review of the literature regarding the prognosis of this type of gestation, prenatal follow-up and management interventions through to delivery. Materials and methods: We report 3 cases that presented to Hospital Universitario del Valle, Cali, Colombia, a level III referral center in Southwestern Colombia that provides healthcare services to pregnant women with a high obstetric risk. We conducted a search in the literature in the Medline/ Pubmed database published in Spanish and English between January 1990 and May 2013. The terms used were “twins”, “monozygotic twins”, “multiple pregnancy”, “twin pregnancy”. Review articles, case reports and cross-sectional studies were included. Results: Overall, 23 articles were reviewed, including 5 review articles, 7 case reports and 11 cross-sectional studies. Information on mortality rates, pre-natal assessment, follow-up, management of complications, time and mode of birth in monoamniotic twins is controversial. Conclusion: Monochorial monoamniotic twin pregnancy is an infrequent event. This condition is associated with multiple obstetric complications, including fetal demise associated with umbilical cord accidents (entanglement). The goal of prenatal care is to prevent fetal death, hence the suggestion of continuous testing for fetal wellbeing. Termination of pregnancy has been proposed at week 34 of gestation through cesarean section after steroid administration.

Pseudoquistes del cordón umbilical: reporte de un caso clínico y revisión de la literatura / Umbilical cord pseudo-cysts: clinical case report and review of the literature

Introducción: los quistes del cordón umbilical se clasifican en pseudoquistes y quistes verdaderos, la diferencia radica en la presencia de epitelio al interior del quiste en la revisión histológica. El objetivo de este documento es reportar un caso de pseudoquiste de cordón umbilical en Colombia y hacer una revisión de la literatura respecto a su origen, las diferencias diagnósticas y su posible asociación con alteraciones congénitas. Materiales y métodos: se presenta el caso de una paciente de veinte años remitida al Hospital Universitario del Valle, Cali, institución de tercer nivel de complejidad, a quien se le encuentran en ultrasonido en la parte proximal del cordón umbilical múltiples imágenes hipoecoicas, a la semana 16. A las 32 semanas se realiza cesárea por trabajo de parto pretérmino, podálico, con recién nacido de sexo femenino, sin defectos congénitos, cariotipo 46, XX. El cordón umbilical tenía apariencia hidrópica, en la observación microscópica se advirtieron los 3 vasos, edema de la gelatina de Wharton con cambios mixoides, sin epitelio, se concluye con diagnóstico de pseudoquistes del cordón umbilical. Se realizó una búsqueda bibliográfica en las bases de datos Medline, Ovid, ScienceDirect y Cochrane Reviews con los términos cordón umbilical, pseudoquiste y quiste del cordón umbilical. Conclusión: los pseudoquistes y quistes verdaderos del cordón umbilical son de buen pronóstico cuando son el único hallazgo anormal en el feto, pero los quistes tienen una importante asociación con otros defectos anatómicos y con alteraciones cromosómicas

Introduction: Umbilical cord cysts are classified as pseudo-cysts and true cysts, the difference being the presence of epithelium inside the cyst on hystology. The objective of this paper is to report a case of umbilical cord pseudocyst in Colombia, and a review of the literature regarding its origin, diagnostic difference, and potential association with congenital abnormalities. Materials and methods: 20 year-old female patient referred to the Valle University Hospital in Cali, a tertiary level institution. On ultrasound, multiple hypoechoic images were found in the proximal portion of the umbilical cord at 16 weeks. At 32 weeks, she was undergone to C-section due to pre-term labor and podalic presentation of a female newborn with no congenital abnormalities and 46, XX karyotype. The umbilical cord showed a hydropic appearance and, under the microscopic examination, 3 vessels were seen, accompanied by edema of Wharton’s jelly, mixoid changes and no epythelium. The final diagnosis was umbilical cord pseudocyst. A search of the literature was conducted in Medline, Ovid, ScienceDirect and Cochrane Reviews using the terms umbilical cord, pseudocyst, and umbilical cord cyst. Conclusion: Umbilical cord pseudocysts and true cysts are of good prognosis when they are the only abnormal finding in the fetus, but there is an important association between cysts and other anatomical defects and chromosomal abnormalities

Association of allelic variants of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase with thrombosis or ocular involvement in Behçet's disease: a systematic review and meta-analysis.

UNLABELLED: Thrombosis is frequent in patients with Behçet's disease (BD), although the exact cause remains uncertain. Some single nucleotide polymorphism (SNP) (G1691A in factor V gene, also called factor V Leiden [FVL], G20210A in prothrombin gene and C677T in methyltetrahydrofolate reductase [MTHFR] gene) have been associated with thrombosis and ocular involvement in BD with controversial results. AIM: To assess the effects of FVL, prothrombin and MTHFR SNP variants in patients with BD and thrombosis and ocular involvement by means of a systematic review and meta-analysis. METHODS: We retrieved studies analyzing the genotype of the above-mentioned polymorphism among patients with BD. A meta-analysis was conducted in a random effects model and calculations of odds ratio (OR) and confidence intervals (CI) were done. Sensitivity analysis and tests for heterogeneity of the results were performed. RESULTS: 27 previous studies analyzed the association of BD and thrombosis with the FVL, prothrombin and MTHFR polymorphisms. A significant association was found between the possession of the AA or GA genotypes of FVL polymorphism among patients with BD and the presence of any thrombosis (OR=2.51; 95% CI: 1.68, 3.74; P<0.00001). In addition, a significant association was found between the possession of the GA or AA genotypes and the presence of BD (OR=2.67; 95% CI: 1.93. 3.72; P<0.00001) when cases with BD and healthy controls were compared. This association was not found when studies from Turkey were excluded. No association was found between prothrombin and MTHFR SNPs and thrombosis in BD, and no association between any SNP and ocular involvement was shown either. CONCLUSIONS: Factor V Leiden could be responsible for some thrombotic events in at least Turkish patients. However, this relationship has to be demonstrated from a pathogenic point of view.

Neoplasias quísticas del páncreas / Cystic neoplasmas of the pancreas

Dados el incremento del uso de la imaginología en el proceso diagnóstico y los avances tecnológicos en su resolución y calidad, muchas enfermedades antes no esclarecidas, e incluso asintomáticas, están siendo descubiertas accidentalmente. Tal es el caso de las lesiones quísticas del páncreas, las cuales no eran diagnosticadas unos 30 años atrás, puesto que la mayoría cursan sin síntomas. Gran cantidad de las lesiones quísticas sintomáticas que afectan el parénquima pancreático, se deben a la presencia de seudoquistes no neoplásicos, cuyo manejo puede ser simplemente el drenaje o el seguimiento médico, mientras que las lesiones quísticas generalmente asintomáticas, son quistes neoplásicos.

Given the increasing use of imaging in the diagnosis process and the technological advances in resolution and quality of the images, many pathologic entities not yet clearly defined, even those asymptomatic, are now incidentally detected. Such is the case with the pancreatic cystic lesions, which could not de diagnosed some 30 years ago because most of them are asymptomatic. The majority of symptomatic cystic lesions that affect the pancreatic parenchyma are due to the presence of non-neoplastic pseudocysts whose management may be just drainage or clinical follow-up, while those asymptomatic cystic lesions are generally neoplastic.