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1.
J Sci Food Agric ; 99(11): 4985-4992, 2019 Aug 30.
Article in English | MEDLINE | ID: mdl-30977139

ABSTRACT

BACKGROUND: 'Calçot' is the Catalan name for the immature floral stems of second-year onion resprouts of the Blanca Tardana de Lleida (BTL) landrace. Highly appreciated for their sensory attributes, these resprouts are typically consumed after roasting on an open fire. Now new preparations are appearing, helping to expand the market for 'calçots'. This study aimed (i) to compare the nutritional and sensory characteristics of BTL 'calçots' versus other onion varieties; (ii) to analyze the effects of cooking and / or in vitro gastrointestinal digestion on the nutritional properties of 'calçots'; and (iii) to determine the influence of the environment on the antioxidant properties of 'calçots'. RESULTS: The nutritional and sensory characteristics of both raw and cooked 'calçots' differed between varieties, with the exception of some minerals. Flavonoid content decreased by 85% during cooking, and total phenolic content decreased by 30%. By contrast, antioxidant activity increased after cooking. Most traits had a nonlinear response to heating, and differences between varieties generally decreased after cooking. Location also had a strong effect on antioxidant activity. In vitro digestion of cooked 'calçots' sharply decreased antioxidant activity after the intestinal phase. The only significant genotypic correlation between sensory and nutritional quality was the correlation between sweetness and ash content (R = -0.97). CONCLUSION: Cooked BTL 'calçots' are within the limits of the onion domain for nutritional properties, and the variability reported for onion bulbs is also present in resprouts. The effects of the environment, cooking, and in vitro digestion clearly overlap the genetic effects. © 2019 Society of Chemical Industry.


Subject(s)
Cooking/methods , Onions/chemistry , Plant Roots/chemistry , Agriculture/methods , Antioxidants/analysis , Digestion , Flavonoids/analysis , Genotype , Hydrogen-Ion Concentration , Micronutrients/analysis , Nutritive Value , Onions/genetics , Phenols/analysis , Sensation , Spain , Species Specificity
2.
Front Plant Sci ; 9: 1642, 2018.
Article in English | MEDLINE | ID: mdl-30483294

ABSTRACT

The Iberian Peninsula is considered as a secondary center of diversity for the common bean, and the Spanish National Plant Genetic Resources Centre's germplasm bank holds more than 3,000 Spanish accessions of Phaseolus vulgaris L. from which a core collection of 202 landraces has been selected. In order to encourage the use of this abundant resource, this study aimed to characterize genetic diversity, by measuring chemical composition in these core collections (in both the seed coat and cotyledon) using previously developed near infrared spectroscopy models. Crucially, these landraces in question all originated under similar agroclimatic conditions, allowing these field trials to be conducted in a single location without significantly altering the agronomic behavior of individual accessions. Using previously reported data, we also explored the correlations between chemical composition and culinary/sensory traits, as well as possible associations between chemical composition and seed coat color or gene pool (Middle American or Andean). The general Mahalanobis distance was >3 in only 11 of 1,950 estimations, confirming the robustness of the regression models previously developed. Variability was greater in seed coat than in cotyledon compounds and ranges for all compounds were wide: ash 34-94 g/kg, Ca 5-31 g/kg, dietary fiber 554-911 g/kg, Mg 2-4.4 g/kg, uronic acid 95-155 g/kg, protein 192-304 g/kg, starch 339-446 g/kg, amylose 208-291 g/kg, amylopectin 333-482 g/kg, and apparent amylose 241-332 g/kg. Accessions with white seed coats tended to be richer in ash, dietary fiber, uronic acid, and Ca, and accessions of the Middle American gene pool had on average 65% more Ca than the Andean gene pool. Strong genetic correlations were not identified between chemical and culinary/sensory traits. This is particularly positive with regards to plant breeding, as it means that synchronic improvement of nutritional composition and sensory traits is possible. The genetic diversity of chemical composition described in the Spanish core collection of beans therefore represents a promising opportunity to develop cultivars with superior nutritional profiles.

3.
An. pediatr. (2003. Ed. impr.) ; 89(1): 65.e1-66.e1, jul. 2018.
Article in Spanish | IBECS | ID: ibc-176987

ABSTRACT

La mejor alimentación para un recién nacido es la leche de su propia madre. En aquellos casos en los que esta no está disponible, especialmente en los recién nacidos muy prematuros o de muy bajo peso al nacer, así como en otros recién nacidos enfermos, el alimento de elección es la leche materna de donantes seleccionadas, antes que la fórmula artificial. Esta indicación está respaldada por los máximos organismos internacionales dedicados a la salud de la población infantil, como la Organización Mundial de la Salud, así como las principales sociedades científicas nacionales e internacionales en el ámbito de la Pediatría. Los bancos de leche surgen como instituciones sanitarias responsables de la gestión de las donaciones, del procesamiento y de la distribución de leche materna donada. Actualmente existen 14 bancos de leche materna en España, agrupados en la Asociación Española de Bancos de Leche Humana, creada en septiembre de 2008. Con el fin de homogeneizar los criterios y unificar los métodos de trabajo, la Asociación Española de Bancos de Leche Humana ha elaborado unos estándares para armonizar los protocolos de los diferentes bancos y para que sirvan de guía para la puesta en marcha de nuevos bancos de leche en el territorio español. Dichos estándares, presentados en este artículo, abarcan desde el proceso de selección y evaluación de la donante hasta la recogida, el procesamiento, el almacenamiento y la distribución de leche materna de donante


It is widely agreed that the best source of nutrition for the newborn is the milk of their own mothers. In those cases where it is not available, especially in very premature and/or very low birth weight infants, as well as other sick newborns, the preferred choice before formula is the human milk provided by selected donors. This indication is supported by the highest international bodies dedicated to the health of the child population, including the World Health Organisation as well as the main national and international scientific societies in the field of Paediatrics. Milk banks are health institutions responsible for the collection, processing and distribution of donated human milk. Currently, there are 14 human milk banks operating in Spain, grouped in the Spanish Association of Human Milk Banks, created in September 2008. In order to homogenise the criteria and to unify the working methods of the different milk banks, the Spanish Association of Human Milk Banks has developed standards to harmonise the protocols, and to serve as a guide for the start-up of new milk banks in the Spanish territory. These standards, set out in the present article, range from the donor selection and the evaluation process to the collection, processing, storage, and distribution of donor human milk


Subject(s)
Humans , Milk Banks/organization & administration , Enterocolitis, Necrotizing , Infant, Extremely Low Birth Weight , Infant, Premature
4.
An Pediatr (Engl Ed) ; 89(1): 65.e1-65.e6, 2018 Jul.
Article in Spanish | MEDLINE | ID: mdl-29496426

ABSTRACT

It is widely agreed that the best source of nutrition for the newborn is the milk of their own mothers. In those cases where it is not available, especially in very premature and/or very low birth weight infants, as well as other sick newborns, the preferred choice before formula is the human milk provided by selected donors. This indication is supported by the highest international bodies dedicated to the health of the child population, including the World Health Organisation as well as the main national and international scientific societies in the field of Paediatrics. Milk banks are health institutions responsible for the collection, processing and distribution of donated human milk. Currently, there are 14 human milk banks operating in Spain, grouped in the Spanish Association of Human Milk Banks, created in September 2008. In order to homogenise the criteria and to unify the working methods of the different milk banks, the Spanish Association of Human Milk Banks has developed standards to harmonise the protocols, and to serve as a guide for the start-up of new milk banks in the Spanish territory. These standards, set out in the present article, range from the donor selection and the evaluation process to the collection, processing, storage, and distribution of donor human milk.


Subject(s)
Milk Banks/organization & administration , Humans , Spain
5.
BMC Public Health ; 8: 251, 2008 Jul 22.
Article in English | MEDLINE | ID: mdl-18647383

ABSTRACT

To estimate the prevalence of metabolic syndrome (MS) in a population receiving attention in primary care centers (PCC) we selected a random cohort of ostensibly normal subjects from the registers of 5 basic-health area (BHA) PCC. Diagnosis of MS was with the WHO, NCEP and IDF criteria. Variables recorded were: socio-demographic data, CVD risk factors including lipids, obesity, diabetes, blood pressure and smoking habit and a glucose tolerance test outcome. Of the 720 individuals selected (age 60.3 +/- 11.5 years), 431 were female, 352 hypertensive, 142 diabetic, 233 pre-diabetic, 285 obese, 209 dyslipemic and 106 smokers. CVD risk according to the Framingham and REGICOR calculation was 13.8 +/- 10% and 8.8 +/- 9.8%, respectively. Using the WHO, NCEP and IDF criteria, MS was diagnosed in 166, 210 and 252 subjects, respectively and the relative risk of CVD complications in MS subjects was 2.56. Logistic regression analysis indicated that the MS components (WHO set), the MS components (IDF set) and the female gender had an increased odds ratio for CVD of 3.48 (95CI%: 2.26-5.37), 2.28 (95%CI: 1.84-4.90) and 2.26 (95%CI: 1.48-3.47), respectively. We conclude that MS and concomitant CVD risk is high in ostensibly normal population attending primary care clinics, and this would necessarily impinge on resource allocation in primary care.


Subject(s)
Cardiovascular Diseases/epidemiology , Metabolic Syndrome/epidemiology , Aged , Blood Pressure , Body Mass Index , Cardiovascular Diseases/etiology , Cholesterol/blood , Cohort Studies , Female , Humans , Logistic Models , Male , Metabolic Syndrome/complications , Middle Aged , Prevalence , Primary Health Care , Risk Factors , Sampling Studies , Spain/epidemiology , Triglycerides/blood
6.
Mod Pathol ; 20(11): 1200-7, 2007 Nov.
Article in English | MEDLINE | ID: mdl-17885672

ABSTRACT

Basal breast carcinomas triple negative for estrogen receptors, progesterone receptors and Her2/neu breast carcinomas are more aggressive than conventional neoplasms. We studied 64 cases with immunohistochemistry, using 23 antibodies, to characterize diverse pathological pathways. A basal cytokeratin was identified in 81% of tumors and vimentin was identified in 55%. The mean Ki67 index was 46% (range, 10-90%). Coincident expression of p50 and p65, which suggests an active nuclear factor-kappaB factor, was present in 13% of neoplasms. Epithelial growth factor receptor (EGFR), insulin-like growth factor-I receptor (IGF-IR) or c-kit (CD117) was identified in 77% of tumors. Loss of protein tyrosine phosphatase was found in 14%, whereas Akt activation was present in 28%. Several differences were identified between two subtypes of basal breast carcinomas: the pure variant (negative S-100 and actin) was more frequently associated with 'in situ carcinoma' (P=0.019) and pBad overexpression (P=0.098), whereas the myoepithelial variant (positive S-100 or actin) showed more frequent tumor necrosis (P=0.048), vimentin expression (P=0.0001), CD117 expression (P=0.001) and activated caspase-3 (P=0.089). IGF-IR could be as important as EGFR for the growth of these neoplasms. Basal cell carcinoma has at least two subtypes with distinct microscopic and immunohistochemical features.


Subject(s)
Biomarkers, Tumor/analysis , Breast Neoplasms/metabolism , Carcinoma, Basal Cell/metabolism , Receptor, ErbB-2/biosynthesis , Receptors, Estrogen/biosynthesis , Receptors, Progesterone/biosynthesis , Adult , Aged , Aged, 80 and over , Breast Neoplasms/pathology , Carcinoma, Basal Cell/pathology , Female , Humans , Immunohistochemistry , Middle Aged
7.
Radiographics ; 27 Suppl 1: S101-24, 2007 Oct.
Article in English | MEDLINE | ID: mdl-18180221

ABSTRACT

During pregnancy and lactation, the breast can be affected by a variety of specific and unique disorders, including benign disorders closely related to physiologic changes, inflammatory and infectious diseases, juvenile papillomatosis, and benign and malignant tumors. Patients with pregnancy-associated breast carcinoma tend to have more advanced neoplasms at diagnosis and a poorer prognosis due to delayed diagnosis and a more aggressive biologic pattern. Pregnancy-related Burkitt lymphoma characteristically manifests with bilateral and diffuse involvement of the breasts. Fibroadenoma may manifest with growth, infarction, large cysts, prominent ducts, and secretory hyperplasia during pregnancy and lactation. Galactocele is the breast lesion most commonly found during lactation and manifests as either pseudolipoma, a cystic mass with a fat-fluid level, or pseudohamartoma. Tumors and diseases affecting the breasts during pregnancy and lactation are basically the same as those observed in nonpregnant women but may have a different appearance. The sensitivity of mammography in pregnant and lactating women is decreased due to increased parenchymal density. Instead, ultrasonography is the most appropriate radiologic method for evaluating breast masses in this setting and is particularly useful in the diagnosis and treatment of abscesses. Knowledge of the unique entities that are specifically related to pregnancy and lactation and of their radiologic-pathologic appearances can help the radiologist make the correct diagnosis.


Subject(s)
Breast Diseases/diagnostic imaging , Breast Diseases/etiology , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/etiology , Lactation , Pregnancy Complications, Neoplastic/diagnostic imaging , Pregnancy Complications, Neoplastic/etiology , Pregnancy Complications/diagnostic imaging , Pregnancy Complications/etiology , Female , Humans , Pregnancy , Radiography
8.
Eur Radiol ; 16(1): 53-6, 2006 Jan.
Article in English | MEDLINE | ID: mdl-15937681

ABSTRACT

Lupus panniculitis is an unusual immunological disease that characteristically affects the subcutaneous fat and occurs in 2% of patients with systemic lupus erythematosus. We report a case of lupus panniculitis involving the breast, which represents a very uncommon location. Mammographically, it presented as a suspicious irregular mass involving the subcutaneous fat pad with skin thickening. High echogenicity constituted the most relevant sonographic finding. To the best of our knowledge, the magnetic resonance (MR) features have not been previously described. High signal intensity was found on both T1- and T2-weighted precontrast MR images. A dynamic contrast-enhanced study revealed a suspicious focal mass with irregular margins and rim enhancement, with a type 3 time-signal intensity curve. Differential diagnosis with carcinoma and fat necrosis and the value of core biopsy are discussed.


Subject(s)
Breast Diseases/diagnosis , Breast/pathology , Panniculitis, Lupus Erythematosus/diagnosis , Adrenal Cortex Hormones/administration & dosage , Adult , Biopsy/methods , Breast Diseases/drug therapy , Contrast Media/administration & dosage , Diagnosis, Differential , Female , Gadolinium DTPA , Humans , Image Enhancement/methods , Imaging, Three-Dimensional/methods , Magnetic Resonance Imaging/methods , Panniculitis, Lupus Erythematosus/drug therapy , Rare Diseases
9.
Eur Radiol ; 16(3): 702-6, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16208511

ABSTRACT

We describe the clinical, radiological, and pathological findings of the diverse benign and malignant breast neoplasms found in association with Cowden syndrome. Patients with Cowden syndrome had a substantially increased risk of breast carcinoma. We find that 33% of the patients in our study population with Cowden disease have developed breast carcinoma to date. An association between Cowden disease and multiple tubular adenomas or breast hamartomas was found in two patients, suggesting a genetic origin. PTEN germ-line mutations were found in all four patients presenting with relevant benign or malignant breast pathology. We also assess the value of specific diagnostic tools used in the surveillance management. Screening mammography was useful in the diagnosis of small, high-grade carcinomas.


Subject(s)
Breast Neoplasms/genetics , Germ-Line Mutation , Hamartoma Syndrome, Multiple/genetics , PTEN Phosphohydrolase/genetics , Adolescent , Adult , Breast Neoplasms/diagnostic imaging , Female , Humans , Mammography , Ultrasonography, Mammary
10.
Radiographics ; 25(2): 411-24, 2005.
Article in English | MEDLINE | ID: mdl-15798059

ABSTRACT

The radiologic features of breast lesions caused by immunologic, reactive, and noncurrent infectious diseases often mimic those of malignancy, frequently constituting a diagnostic challenge even if the underlying disease is known. Churg-Strauss syndrome mimics carcinomatous mastitis. Amyloidosis usually manifests as a suspicious mass, often accompanied by microcalcifications. Wegener granulomatosis and sarcoidosis often manifest as irregular masses, although sarcoidosis can also manifest as round, well-defined masses reflecting intramammary node involvement. Diabetic mastopathy is a rare but well-known entity in patients with long-standing insulin-dependent diabetes. Breast involvement by necrobiotic xanthogranulomatosis is rare and manifests as multiple bilateral asymmetric lesions. Multiple clustered hypoechoic tubular structures in a large hypoechoic mass seen after pregnancy can be suggestive of granulomatous mastitis. Mammary tuberculosis can manifest with a nodular, diffuse, or sclerosing pattern. A granulomatous inflammatory reaction must be carefully evaluated because it constitutes the major feature of a diverse group of diseases that includes vasculitis, granulomatous mastitis, tuberculosis, and carcinoma-associated sarcoidlike reactions. Core biopsy can play a major role in developing a differential diagnosis for these rare immunologic, inflammatory, or infectious disorders affecting the breast, and knowledge of these entities can, in the appropriate clinical setting, help the radiologist narrow the differential diagnosis, although cancer must be excluded definitively.


Subject(s)
Breast Diseases/diagnosis , Adult , Aged , Breast Diseases/immunology , Female , Humans , Mastitis/diagnosis , Middle Aged
11.
Int J Cancer ; 112(4): 647-52, 2004 Nov 20.
Article in English | MEDLINE | ID: mdl-15382046

ABSTRACT

Women with a family history of breast cancer are at increased risk for developing this neoplasm. Starting surveillance more frequently at a younger age than the general population and the possibility of undergoing genetic testing are options for their medical management. We analyzed the benefits and costs of our clinical program in familial breast cancer (FBC) and carried out a cost-effectiveness analysis of such procedure. The benefits and costs of performing genetic counseling and a screening program in FBC based on 143 high-risk families registered in our database between June 1995 and December 2001 were analyzed. A decision tree was constructed to estimate the survival benefit and cost-effectiveness of the clinical genetic counseling program compared with the strategy of not performing any screening protocol. We estimated that the prevalence of a BRCA mutation in an unaffected relative of our high-risk cohort was 10% and that 53% of the mutations are found in the BRCA1 gene. We assigned a 58.5% lifetime risk of breast cancer for a 30-year-old mutation carrier according to the SEER data. The effectiveness of the screening was obtained from our experience and data for estimating survival were derived from other studies with longer follow-up. We used our local payment data to calculate the costs of the program. A mutation in the BRCA1 or BRCA2 genes was identified in 20% of the probands. Seventy primary breast cancer cases were recorded since the onset of the program. Thirty percent of the tumors were diagnosed through the screening program and 71% of them were lymph node-negative compared to 49% of the tumors diagnosed outside the program (p=0.1). The cost-effectiveness ratio of our FBC genetic counseling and screening program was 4,294 euros per life-year gained. The model was sensitive to the prevalence of mutation carriers, the lifetime risk of breast cancer and the effectiveness of the screening. In our setting and according to our model, this analysis suggests that a program of genetic testing and screening for breast cancer in a high-risk population may be cost-effective. These results need to be confirmed as more effective interventions for cancer prevention and screening are being implemented.


Subject(s)
Breast Neoplasms/genetics , Genetic Counseling/economics , Genetic Predisposition to Disease , Genetic Testing/economics , Aged , Breast Neoplasms/pathology , Cost-Benefit Analysis , DNA Mutational Analysis , Databases, Factual , Female , Humans , Middle Aged , Pedigree , Risk Factors , Survival Analysis
12.
Med Clin (Barc) ; 119(13): 497-9, 2002 Oct 19.
Article in Spanish | MEDLINE | ID: mdl-12406399

ABSTRACT

BACKGROUND: Li-Fraumeni syndrome is a dominantly inherited disorder characterized by early-onset breast cancer, soft-tissue sarcomas and osteosarcomas, acute leukemia, adrenocortical neoplasms and central nervous system tumors. Germline mutations in gene TP53 are identified in a percentage of affected families. PATIENTS AND METHOD: Eight families with aggregation of childhood sarcomas, brain tumors, breast cancers in pre-menopausal women, and renal tumors were screened for TP53 germ-line mutations. SSCP and posterior direct sequencing were performed for genetic analysis. We also report a previously undescribed family with the Li-Fraumeni syndrome carrying a germline mutation. RESULTS: Seven families fulfilled so-called Li-Fraumeni like criteria and one fulfilled classical criteria. A new germ-line mutation in codon 238 at exon 7 of the gene TP53 was identified in the family fulfilling classical criteria. This mutation has not been previously reported. CONCLUSIONS: The clinical heterogeneity as well as the molecular complexity and consequences of mutation analysis and genetic counseling make it necessary to develop protocols in this area. A multidisciplinary approach is needed; this approach should be coordinated by a Familial Cancer Genetic Counseling Unit.


Subject(s)
Genes, p53/genetics , Germ-Line Mutation , Li-Fraumeni Syndrome/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Heterozygote , Humans , Male , Middle Aged , Pedigree
13.
Med. clín (Ed. impr.) ; 119(13): 497-499, oct. 2002.
Article in Es | IBECS | ID: ibc-15924

ABSTRACT

FUNDAMENTO: El síndrome de Li-Fraumeni (SLF) es un trastorno familiar autosómico dominante con predisposición a la aparición de sarcomas de partes blandas, osteosarcomas, cáncer de mama en mujeres premenopáusicas, leucemia aguda, tumores adrenocorticales y del sistema nervioso central. En más de la mitad de las familias afectadas se identifican mutaciones en línea germinal en el gen TP53.PACIENTES Y MÉTODO: Se realizó el análisis de mutaciones del gen TP53 en línea germinal en 8 familias con agregación de sarcomas infantiles, tumores cerebrales, neoplasia de mama en mujeres premenopáusicas y tumores renales. El estudio genético se realizó mediante la técnica SSCP y secuenciación posterior. RESULTADOS: Siete familias reunían los criterios del síndrome de Li-Fraumeni like y una los criterios clínicos clásicos. Se identificó la mutación C238S en el exón 7 del gen TP53 en línea germinal en la familia con criterios clásicos. Dicha mutación no ha sido descrita previamente. CONCLUSIONES: La heterogeneidad clínica, la complejidad molecular y las implicaciones del asesoramiento genético de las familias con este síndrome hacen necesaria la elaboración de protocolos y su posterior evaluación. Debería plantearse un enfoque multidisciplinario coordinado desde unidades de consejo genético en cáncer familiar (AU)


Subject(s)
Middle Aged , Child, Preschool , Child , Adolescent , Adult , Male , Female , Humans , Germ-Line Mutation , Genes, p53 , Li-Fraumeni Syndrome , Pedigree , Heterozygote
15.
Eur Radiol ; 12(3): 646-9, 2002 Mar.
Article in English | MEDLINE | ID: mdl-11870481

ABSTRACT

Churg-Strauss syndrome is a rare immunoallergic disorder that usually affects lungs, skin and nervous system. The clinical and radiological findings of Churg-Strauss disease involving the breast are reported and attention is drawn to the fact that, although uncommonly, the breast can be involved by immunological diseases.


Subject(s)
Breast/pathology , Churg-Strauss Syndrome/complications , Eosinophilia/etiology , Mastitis/etiology , Adolescent , Blood Sedimentation , Churg-Strauss Syndrome/diagnostic imaging , Eosinophilia/diagnosis , Female , Humans , Mammography , Mastitis/diagnosis
17.
J Colloid Interface Sci ; 246(1): 157-63, 2002 Feb 01.
Article in English | MEDLINE | ID: mdl-16290396

ABSTRACT

Micellar-enhanced ultrafiltration (MEUF) of phenol and a cationic surfactant, cetylpyridinium chloride (CPC), is studied using two polysulfone membranes of 5- and 50-kDa molecular weight cutoff (MWCO) and two ceramic membranes of 15- and 50-kDa MWCO. Filtrations are run under laminar cross-flow and steady-state conditions. The effect of operation variables (pressure and retentate flux) and membrane properties (nature and MWCO) on permeate flux, surfactant, and phenol rejections is analyzed. The permeate flux depends, among other variables, on the fouling favored by membrane-micelle interactions, which are strongest in the 50-kDa MWCO ceramic membrane. On the other hand, surfactant rejection is mainly determined by the pore size and influenced by the pressure for both 50-kDa MWCO membranes. An equilibrium distribution constant, K(s), of phenol between surfactant micelles and water is calculated. Its value is not significantly affected by operation conditions and membrane type. K(s) is also approximately 20% lower than the value determined in a previous work with batch dead-end ultrafiltration.

18.
Med. clín (Ed. impr.) ; 117(5): 161-166, jul. 2001.
Article in Es | IBECS | ID: ibc-3082

ABSTRACT

INTRODUCCIÓN: Las diferencias en el comportamiento clínico del cáncer de mama esporádico y el hereditario son poco conocidas. PACIENTES Y MÉTODO: Se analizaron las características clinicopatológicas y la evolución clínica de 30 pacientes con cáncer de mama (la mediana de seguimiento fue de 131 y 54 meses, respectivamente), mutación en los genes BRCA1 o BRCA2 (detectadas mediante SSCP y PTT) y antecedentes familiares de cáncer de mama o cáncer de ovario. RESULTADOS: No se observaron diferencias en la edad de aparición, tamaño o diseminación ganglionar del tumor. La presentación mamográfica en BRCA2 fue más heterogénea que en BRCA1. Los tumores con BRCA1 mutado fueron carcinomas ductales infiltrantes (el 20 por ciento medulares), y evidenciaban características histológicas de mayor agresividad. El 14 por ciento presentó recidiva local en BRCA1 y el 20 por ciento en BRCA2. Los cánceres de mama contralaterales y los cánceres de ovario fueron del 27 y el 20 por ciento para BRCA1 y del 6 por ciento en ambos para BRCA2. CONCLUSIONES: No se apreciaron diferencias entre BRCA1 y BRCA2 en la edad de aparición y el estadio del cáncer de mama. El patrón mamográfico del cáncer de mama asociado a BRCA2 fue más heterogéneo. Las mutaciones en BRCA1 se asociaron a cáncer de mama con características patológicas de agresividad y mayor frecuencia de segundas neoplasias de mama y de ovario (AU)


Subject(s)
Middle Aged , Child , Adult , Adolescent , Aged , Male , Female , Humans , Genes, BRCA1 , Pneumonia , Genes, BRCA2 , Spain , Community-Acquired Infections , Carcinoma, Ductal, Breast , Mutation , Prospective Studies , Anti-Bacterial Agents , Breast Neoplasms
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