Introduction: Cow’s milk protein allergy (CMPA) is the most frequent food allergy in the first year of life. There is no clear consensus regarding its prevention. A recommendation to avoid CMP in the ...first week of life as a preventive measure in all infants, regardless of their atopic risk, has recently been published. The purpose of this document is to issue a recommendation on the use of extensively hydrolyzed CMP formulas in the first week of life for the primary prevention of CMPA. Methods: A group of experts was formed with members proposed by the Spanish Association of Pediatrics (AEP), the Spanish Society of Clinical Immunology and Allergology and Pediatric Asthma (SEICAAP), the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP) and the Spanish Society of Neonatology (SENEO). The group conducted a critical review of the evidence on the subject published in the last 10 years. Results: The search yielded 72 studies, of which 66 were rejected for not meeting the inclusion criteria. The final review included 6 documents: 3 clinical trials and 3 systematic reviews, 2 of them with meta-analysis. There was no evidence of a statistically significant reduction in the incidence of CMPA in the infants who received hypoallergenic formulae or exclusive breastfeeding. Conclusion: Based on the current evidence, it is not possible to draw clear conclusions about the effect of avoiding CMP in the first week of life for prevention of CMPA. Although there are data that suggest a certain beneficial effect of avoiding CMPA in atopic risk infants, these results are not conclusive enough to extend the recommendation to the general population. Resumen: Introducción: La alergia a las proteínas de la leche de vaca (APLV) es la alergia alimentaria más frecuente en el primer año de vida. No existe un consenso claro respecto a su prevención. Recientemente se ha publicado la recomendación de evitar estas proteínas en la primera semana de vida como medida de prevención en todos los niños, con independencia de su riesgo atópico. El objetivo de este documento es emitir una recomendación sobre el uso de fórmulas extensamente hidrolizadas de PLV en la primera semana de vida para la prevención primaria de la APLV. Métodos: Se constituyó un grupo de expertos propuestos por la Asociación Española de Pediatría (AEP), la Sociedad Española de Inmunología Clínica y Alergología y Asma Pediátrica (SEICAAP), la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica (SEGHNP) y la Sociedad Española de Neonatología (SENEO). Se realizó una revisión crítica de la evidencia publicada en los últimos 10 años sobre el tema. Resultados: Se seleccionaron 72 estudios, de los cuales 66 fueron rechazados por no cumplir los criterios de inclusión. Se incluyeron en la revisión 6 documentos: 3 ensayos clínicos y 3 revisiones sistemáticas, 2 de ellas con metaanálisis. No se observó una reducción estadísticamente significativa en la incidencia de APLV en los grupos de lactantes que recibieron fórmulas hipoalergénicas ni lactancia materna exclusiva. Conclusión: Con base en las evidencias existentes en la actualidad, no se pueden establecer conclusiones claras acerca del efecto de evitar las PLV durante la primera semana de vida en la prevención de la APLV. A pesar de existir datos que pudieran orientar a un cierto efecto beneficioso de su evitación en niños con riesgo atópico, estos resultados no son concluyentes ni generalizables a lactantes sin dicho riesgo.
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise ...several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known to cause ADH by direct sequencing in 24 ADH families (215 members). Functional effect of some LDLR gene mutations was assessed by transfecting cultured cells with plasmids. Results Six families with mutations presented 7 mutation carriers who did not show ADH phenotype: 30% of ADH families presented normocholesterolemic individuals, and 7% of carriers of pathogenic mutations did not show ADH phenotype. We have analysed the effect of some of these mutations and they are responsible for impaired LDL receptor function. We have excluded mutations in APOB and PCSK9 genes that could reduce LDLc levels. Conclusions An important percentage of ADH families presented individuals who do not show an ADH phenotype, but who are able to transmit the pathogenic mutation to their offspring. Genetic study of all subjects in ADH families should be performed in order to identify normocholesterolemic carriers that allow the detection of mutations in their descendants and the prevention of the disease consequences.
Raltegravir (RAL), the first approved HIV-1 integrase-inhibitor, combines rapid and potent antiretroviral activity with a lack of interference with the hepatic cytochrome P450-3A4 1,2, an advantage ...that makes it useful in certain settings, such as liver transplantation 3,4. The low rate of hepatitis C virus (HCV) and/or hepatitis B virus-coinfected patients in pivotal trials of RAL 5,6 has precluded the availability of information on its potential use in patients with viral hepatitis-related liver damage, specially cirrhotic individuals. Moreover, to date, there are no data on the safety of RAL with pegylated-interferon (peg-IFN) and ribavirin (RBV). We report for the first time the safe co-administration of highly active antiretroviral therapy (HAART) including RAL with peg-IFN/RBV in five HIV individuals with HCV-related liver damage: low-grade fibrosis (n = 1), compensated cirrhosis (n = 1), decompensated cirrhosis (n = 2), and a severe form of HCV recurrence following liver transplantation (n = 1).
Resumen: En los últimos tiempos el exceso de azúcares en la dieta está en el punto de mira de la comunidad científica. Aunque cada vez existe mayor evidencia del efecto negativo de las bebidas ...azucaradas sobre la salud, aún sigue siendo un motivo de controversia. Por otro lado, los beneficios del consumo de frutas y verduras en cuanto a prevención de varias enfermedades crónicas son conocidos y aceptados de forma generalizada. Los zumos de frutas pueden aportar algunos de estos beneficios, pero hay dudas sobre su idoneidad debido a su alto contenido en azúcares. ¿Cuál es su papel en la alimentación infantil? ¿Debemos considerarlos como una bebida azucarada más?
Differences in HCV-RNA clearance during therapy might explain the lower efficacy of peg-IFN/RBV in HIV/HCV-coinfection. There are limited data on HCV-RNA clearance and treatment outcomes in liver ...transplanted (LT) patients.
To assess the rates of SVR and baseline predictors of failure after 48 weeks of weight-adjusted peg-IFN-alpha-2b/RBV in 120 patients with HCV genotype 1: 61 HCV-monoinfected, 40 HIV-coinfected and 19 LT-patients. Viral clearance was evaluated in patients completing 24 weeks of therapy (n=112, 93%).
SVR was significantly lower in HIV-coinfection than in HCV-monoinfection or LT (18 vs. 39 vs. 42%, P<0.02). By multivariate analysis, HIV-coinfection (OR 3.048, 95% CI 1.133-8.196; P=0.027), baseline HCV-RNA over 800,000 IU/ml (OR 2.800; 95% CI 1.121-6.993, P=0.027) and higher AST values (OR 1.009; 95% CI 1.001-1.018; P=0.028) were significantly associated to failure. Despite similar baseline HCV load (5.67 vs. 5.75 vs. 5.90 log10 IU/ml), HIV-coinfection showed significantly lower HCV-RNA decreases than HCV-monoinfection at weeks 4 (P=0.015), 12 (P=0.015) and 24 (P=0.0003), and than LT at weeks 12 (P=0.003) and 24 (P=0.023). 36/60 subjects (60%) reaching EVR by week 12 obtained SVR vs. 3/60 (5%) who did not.
HIV-coinfection was independently associated to treatment failure, and led to a significantly slower HCV-RNA clearance.
Context: Autosomal dominant hypercholesterolemia (ADH) is a genetic disorder characterized by increased low-density lipoprotein (LDL)-cholesterol levels, leading to high risk of premature ...cardiovascular disease. More than 900 mutations in LDL receptor, six in APOB and 10 in PCSK9 have been identified as a cause of the disease in different populations. All known mutations in PCSK9 causing hypercholesterolemia produce an increase in the enzymatic activity of this protease. Up to now, there are data about the implication of PCSK9 in ADH in a low number of populations, not including a Spanish population.
Objective: The objective of the study was to study the prevalence of PCSK9 mutations in ADH Spanish population.
Participants: We screened PCSK9 gene in 42 independent ADH patients in whom mutations in LDL receptor and APOB genes had been excluded.
Results: None of the known mutations causing ADH was detected in our sample, but we found two variations in the promoter region that could cause ADH, c.-288G>A and c.-332C>A (each in one proband). The analysis of the effect of these two variations on the transcription activity of the PCSK9 promoter showed that c.-288G>A did not modify the transcription, whereas c.-332C>A variant caused a 2.5-fold increase when compared with the wild-type sequence, either with or without lovastatin.
Conclusions: PCSK9 is a rare cause of ADH in Spanish population and, up to what we know, none of the previously described mutations has been detected. We have identified a new mutation that could cause ADH by increasing the transcription of PCSK9.
Breast cancer is the most common type of cancer among women, and clinicians have long recognized its heterogeneity. Its detection and treatment in early stages allow for reduction of mortality. ...Despite the advances and new strategies for combining surgical, radiotherapy, and chemotherapy options, however, the percentage of patients developing metastases and advanced stages remains high. Even though serum tumor markers have been used for the early diagnosis of metastases, their systematic determination has not had an effect on survival. Methods that are more reliable are needed to detect metastases earlier than with the common clinical methods and thus start treatment before overt relapse. Early indicators of response or resistance to treatment are also an issue in clinical practice. Imaging techniques are time consuming, and it is difficult to detect changes that indicate response limited to therapy, and approaches to defining changes in tumor mass are time and resource consuming.
In contrast, detection of circulating tumor cells (CTC) could be a useful tool in early detection of relapse and response to systemic chemotherapy. Extremely sensitive techniques are available that are easily applied to peripheral blood samples, which might provide enormous research possibilities in this area.
Differences in HCV-RNA clearance during therapy might explain the lower efficacy of peg-IFN/RBV in HIV/HCV-coinfection. There are limited data on HCV-RNA clearance and treatment outcomes in liver ...transplanted (LT) patients.
To assess the rates of SVR and baseline predictors of failure after 48 weeks of weight-adjusted peg-IFN-α-2b/RBV in 120 patients with HCV genotype 1: 61 HCV-monoinfected, 40 HIV-coinfected and 19 LT-patients. Viral clearance was evaluated in patients completing 24 weeks of therapy (
n=112, 93%).
SVR was significantly lower in HIV-coinfection than in HCV-monoinfection or LT (18 vs. 39 vs. 42%,
P<0.02). By multivariate analysis, HIV-coinfection (OR 3.048, 95% CI 1.133–8.196;
P=0.027), baseline HCV-RNA over 800,000
IU/ml (OR 2.800; 95% CI 1.121–6.993,
P=0.027) and higher AST values (OR 1.009; 95% CI 1.001–1.018;
P=0.028) were significantly associated to failure. Despite similar baseline HCV load (5.67 vs. 5.75 vs. 5.90
log
10
IU/ml), HIV-coinfection showed significantly lower HCV-RNA decreases than HCV-monoinfection at weeks 4 (
P=0.015), 12 (
P=0.015) and 24 (
P=0.0003), and than LT at weeks 12 (
P=0.003) and 24 (
P=0.023). 36/60 subjects (60%) reaching EVR by week 12 obtained SVR vs. 3/60 (5%) who did not.
HIV-coinfection was independently associated to treatment failure, and led to a significantly slower HCV-RNA clearance.
What is being researched in rectal cancer? Reina Duarte, Angel; Ferrer Márquez, Manuel; Rubio Gil, Francisco A ...
Cirugia española (English ed.),
2014-Nov-25, 20141125
Journal Article
Recenzirano
Clinical evidence has a more significant role in medical specialties than in surgery. Rectal cancer (CR) is no exception. This paper explores what CR-related subjects are being investigated at the ...present time in a quantitative and qualitative way and analyzes this information to know what possible answers clinical research could give us in the future.
The data collection was carried out in April 2014 and was based on 3 sources: 2 institutional clinical trials registries -American (clinicaltrials.gov) and European (EU Clinical Trials Register)- and a survey given to members of the Asociación Española de Coloproctología (AECP). The obtained studies were exported to a database designed especially for this review, which included a number of descriptive elements that would allow the cataloging of the different studies. The AECP survey results were analyzed separately.
There are currently 216 clinical trials ongoing related to CR. Two-thirds are primarily conducted by oncologists. Nearly a third are surgical. The research focuses on improving preoperative treatment: new drugs, new schemes of chemo-radiotherapy (usually induction or consolidation schemes) or optimization of radiotherapy and its effects. Surgical clinical trials are related to robotics, laparoscopy, stoma, low colorectal anastomosis, distal CR and local treatment.
Most of the current clinical trials ongoing on CR are analyzing aspects of chemo-radiotherapy and its effects. A third focus on purely surgical issues.
Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the ...gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies.
Point variations and large rearrangements were screened along all the LDLR gene (promoter, exons, and flanking intron sequences).
We screened a sample of 129 FH probands from the Valencian Community, Spain, and identified 54 different LDLR sequence variations. The most frequent (10% of cases) was 111insA, and 60% of the variants had a frequency as low as 1%. A previously described method for detection of known sequence variations in the Spanish population by DNA array analysis allowed the identification of only approximately 50% of patients with a variant LDLR gene and approximately 40% of the screened samples.
Our results indicate that the adequate procedure to identify LDLR sequence variations in outbreed populations should include screening of the entire gene.
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