Symptom-related screening programme for early detection of chronic thromboembolic pulmonary hypertension after acute pulmonary embolism: the SYSPPE study.

BACKGROUND: Chronic thromboembolic pulmonary hypertension (CTEPH) is the most severe long-term complication of acute pulmonary embolism (PE). We aimed to evaluate the impact of a symptom screening programme to detect CTEPH in PE survivors. METHODS: This was a multicentre cohort study of patients diagnosed with acute symptomatic PE between January 2017 and December 2018 in 16 centres in Spain. Patients were contacted by phone 2 years after the index PE diagnosis. Those with dyspnoea corresponding to a New York Heart Association (NYHA)/WHO scale≥II, visited the outpatient clinic for echocardiography and further diagnostic tests including right heart catheterisation (RHC). The primary outcome was the new diagnosis of CTEPH confirmed by RHC. RESULTS: Out of 1077 patients with acute PE, 646 were included in the symptom screening. At 2 years, 21.8% (n=141) reported dyspnoea NYHA/WHO scale≥II. Before symptom screening protocol, five patients were diagnosed with CTEPH following routine care. In patients with NYHA/WHO scale≥II, after symptom screening protocol, the echocardiographic probability of pulmonary hypertension (PH) was low, intermediate and high in 76.6% (n=95), 21.8% (n=27) and 1.6% (n=2), respectively. After performing additional diagnostic test in the latter 2 groups, 12 additional CTEPH cases were confirmed. CONCLUSIONS: The implementation of this simple strategy based on symptom evaluation by phone diagnosed more than doubled the number of CTEPH cases. Dedicated follow-up algorithms for PE survivors help diagnosing CTEPH earlier. TRIAL REGISTRATION NUMBER: NCT03953560.

Trombosis venosa yugular interna, una localización atípica de enfermedad tromboembólica venosa / Internal jugular vein thrombosis, an atypical location of venous thromboembolic disease

No disponible

Espondilitis tuberculosa (enfermedad de Pott) / Tuberculous spondylitis (Pott's disease)

No disponible

R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study.

BACKGROUND: Heterozygous Familial Hypercholesterolemia (FH) is a genetic disorder characterized by a high risk of cardiovascular disease. Certain polymorphisms of the factor VII gene have been associated with the development of coronary artery disease and there is a known association between factor VII levels and polymorphic variants in this gene. To date, no study has evaluated the association between factor VII and coronary artery disease in patients with FH. RESULTS: This case-control study comprised 720 patients (546 with FH and 174 controls). We determined the prevalence and allele frequencies of the R353Q polymorphism of factor VII, the plasma levels of factor VII antigen (FVII Ag) and whether they could be predictive factors for cardiovascular risk. 75% (410) of the patients with FH were RR, 23% (127) RQ and 1.6% (9) QQ; in the control group 75.3% (131) were RR, 21.3% (37) RQ and 3.4% (6) QQ (p = 0.32). No statistically significant associations were observed in the distribution of genotypes and allele frequencies between case (FH) and control groups. Nor did we find differences when we evaluated the relationship between the R353Q polymorphism and cardiovascular risk (including coronary disease, ischemic stroke and peripheral arterial disease), either in the univariate analysis or after adjustment for sex, age, arterial hypertension, body mass index, xanthomas, diabetes, smoking, HDLc and LDLc and lipid-lowering treatment. The FVII Ag concentrations behaved in a similar fashion, with no differences for the interaction between controls and those with FH (RR vs. RQ/QQ; p = 0.96). In the subgroup of patients with FH no association was found among cardiovascular disease, genotype and FVII Ag levels (RR vs. RQ/QQ; p = 0.97). CONCLUSIONS: Our study did not find a direct relationship between cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia, the R353Q polymorphism of factor VII and FVII Ag levels.

Effects of variations in the APOA1/C3/A4/A5 gene cluster on different parameters of postprandial lipid metabolism in healthy young men.

The APOA1/C3/A4/A5 gene cluster encodes important regulators of fasting lipids, but the majority of lipid metabolism takes place in the postprandial state and knowledge about gene regulation in this state is scarce. With the aim of characterizing possible regulators of lipid metabolism, we studied the effects of nine single nucleotide polymorphisms (SNPs) during postprandial lipid metabolism. Eighty-eight healthy young men were genotyped for APOA1 -2630 (rs613808), APOA1 -2803 (rs2727784), APOA1 -3012 (rs11216158), APOC3 -640 (rs2542052), APOC3 -2886 (rs2542051), APOC3 G34G (rs4520), APOA4 N147S (rs5104), APOA4 T29T (rs5092), and A4A5_inter (rs1263177) and were fed a saturated fatty acid-rich meal (1g fat/kg of weight with 60% fat, 15% protein and 25% carbohydrate). Serial blood samples were extracted for 11 h after the meal. Total cholesterol and fractions [HDL-cholesterol, LDL-cholesterol, trifacylglycerols (TGs) in plasma, TG-rich lipoproteins (TRLs) (large TRLs and small TRLs), apolipoprotein A-I and apolipoprotein B] were determined. APOA1 -2803 homozygotes for the minor allele and A4A5_inter carriers showed a limited degree of postprandial lipemia. Carriers of the rare alleles of APOA4 N147S and APOA4 T29T had lower APOA1 plasma concentration during this state. APOC3 -640 was associated with altered TG kinetics but not its magnitude. We have identified new associations between SNPs in the APOA1/C3/A4/A5 gene cluster and altered postprandial lipid metabolism.

Análisis de los pacientes ingresados por sospecha de trombosis venosa profunda posteriormente no confirmada. Diagnóstico diferencial de la trombosis venosa profunda / Analysis of patients hospitalised due to suspected deep vein thrombosis that was later not confirmed. Differential diagnosis of deep vein thrombosis

Introducción. La trombosis venosa profunda (TVP) es una enfermedad frecuente con manifestaciones clínicas poco sensibles y específicas. Su diagnóstico ha de basarse siempre en una prueba de imagen. Los procesos que pueden simular una TVP son muchos. Objetivo. Conocer el número de pacientes que ingresa en el hospital por sospecha clínica de TVP que posteriormente no se confirma, así como los diagnósticos finales de estos pacientes, y comparar las características con las de una población similar de pacientes con TVP confirmada por ecografía. Pacientes y métodos. Estudio prospectivo de los pacientes ingresados por sospecha de TVP durante dos años. En todos los casos se realizó una ecografía Doppler que excluyó el diagnóstico de TVP. Se recogieron los datos basales, los datos clínicos, los factores de riesgo para TVP, la comorbilidad y los datos analíticos. Paralelamente se obtuvieron datos similares de pacientes con TVP confirmada. Se calcularon las odds ratio y los intervalos de confianza al 95%. Resultados. Se recogieron un total de 43 pacientes con TVP no confirmada, cuyos diagnósticos finales fueron: celulitis, 9 (20,9%); insuficiencia venosa, 8 (18,6%); hematoma muscular, 7 (16,3%); sin diagnóstico, 4 (9,3%); quiste de Baker, 3 (6,9%); síndrome postrombótico, 3 (6,9%); tromboflebitis superficial, 3 (6,9%); y otros diagnósticos, 5 (11,6%). Conclusiones. La celulitis y la patología venosa crónica son los procesos que más frecuentemente simulan una TVP. Las características de los pacientes con falsa TVP son esencialmente las mismas que las de los pacientes con TVP confirmada

INTRODUCTION. Deep vein thrombosis (DVT) is a common disease with clinical manifestations that are not very sensitive or specific. Its diagnosis must always be based on imaging tests. There are many processes that can mimic DVT. AIMS. To determine the number of patients admitted to hospital due to clinical suspicion of DVT that was later unconfirmed, as well as the final diagnosis for these patients, and to compare the characteristics with those of a similar population of patients with DVT that had been confirmed by ultrasound studies. PATIENTS AND METHODS. We conducted a prospective study of the patients admitted to hospital owing to suspected DVT over a two-year period. In all cases a Doppler ultrasound study was carried out that excluded a diagnosis of DVT. Baseline data, clinical data, risk factors for DVT, comorbidity and analytical data were collected. Likewise, similar data were obtained for patients with confirmed diagnoses of DVT. The 95% confidence intervals and odds ratios were calculated. RESULTS. In all, 43 patients with non-confirmed DVT were found; their final diagnoses were as follows: cellulitis, 9 (20.9%); venous insufficiency, 8 (18.6%); muscular haematoma, 7 (16.3%); undiagnosed, 4 (9.3%); Baker’s cyst, 3 (6.9%); post-thrombotic syndrome, 3 (6.9%); superficial thrombophlebitis, 3 (6.9%); and other diagnoses, 5 (11.6%). CONCLUSIONS. Cellulitis and chronic venous disease are the processes that most frequently mimic DVT. The characteristics of patients with false DVT are essentially the same as those of patients with a confirmed diagnosis of DVT