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1.
Endocrinol Diabetes Nutr (Engl Ed) ; 70(1): 29-38, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36764745

ABSTRACT

AIM: To assess the degree of compliance with the European ESC/EAS 2016 and 2019 dyslipidaemia guidelines in patients with type 2 diabetes mellitus (T2DM). METHODS: Multicentre retrospective cross-sectional study, conducted in 380 adults with T2DM and dyslipidaemia in 7 Spanish health areas. INCLUSION CRITERIA: minimum follow-up of one year in Endocrinology Units, at least one visit in 2020 and a lipid profile measurement in the last 3 months. EXCLUSION CRITERIA: familial hypercholesterolaemia, recent hospitalisation, active oncological pathology and dialysis. RESULTS: According to the 2016 and 2019 guidelines the majority of patients were classified as being at very high cardiovascular risk (86.8% vs. 72.1%, respectively). LDL-c compliance was adequate in 62.1% of patients according to the 2016 guidelines and 39.7% according to the 2019 guidelines (p<0.001). Clinical conditions such as history of cardiovascular disease and therapy-related aspects (use of statins, especially high-potency statins, combination therapies and good adherence) were significantly associated with greater achievement of lipid targets. CONCLUSION: There is a discrepancy between dyslipidaemia guideline recommendations and the reality of lipid control in patients with T2DM, despite most of these patients being at very high cardiovascular risk. Strategies to optimise lipid-lowering treatments need to be implemented.


Subject(s)
Diabetes Mellitus, Type 2 , Dyslipidemias , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Adult , Humans , Diabetes Mellitus, Type 2/drug therapy , Diabetes Mellitus, Type 2/complications , Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Spain , Cross-Sectional Studies , Retrospective Studies , Cholesterol, LDL , Dyslipidemias/complications
2.
Nutr. hosp ; 40(1): 186-199, ene.-feb. 2023. tab, ilus
Article in Spanish | IBECS | ID: ibc-215702

ABSTRACT

La inmunonutrición es una ciencia que engloba aspectos relacionados con la nutrición, la inmunidad, la infección, la inflamación y el daño tisular. Las fórmulas inmunomoduladoras han demostrado beneficios en una amplia variedad de situaciones clínicas. El objetivo de este trabajo es revisar la evidencia disponible en inmunonutrición (IN). Para ello, se ha realizado una búsqueda bibliográfica con las palabras clave: inmunonutrición, arginina, glutamina, nucleótidos, ácidos grasos omega-3, ERAS, fast-track. Se han incluido ensayos clínicos, revisiones y guías de práctica clínica. La IN ha demostrado reducir las fístulas en el postoperatorio en pacientes con cáncer de cabeza y cuello. En pacientes con cáncer gástrico y cáncer de esófago, la IN se asocia a una disminución de las complicaciones infecciosas y la estancia hospitalaria. Otras situaciones clínicas que se benefician del uso de la IN son la cirugía del cáncer de páncreas, la cirugía del cáncer colorrectal y los grandes quemados. Son necesarios más estudios controlados, prospectivos y aleatorizados para confirmar los potenciales beneficios de la IN en otras situaciones clínicas como la cirugía torácica no esofágica, el cáncer vesical, la cirugía ginecológica, la fractura de cadera, la patología hepática y la COVID-19, entre otros. (AU)


Immunonutrition is a science that encompasses aspects related to nutrition, immunity, infection, inflammation and tissue damage. Immunomodulatory formulas have shown benefits in a wide variety of clinical situations.The objective of this work was to review the available evidence in immunonutrition (IN). For this, a bibliographic search has been carried outwith the keywords: immunonutrition, arginine, glutamine, nucleotides, omega-3 fatty acids, ERAS, fast-track. Clinical trials, reviews and clinicalpractice guidelines have been included.IN has been shown to reduce postoperative fistulae in head and neck cancer patients and in gastric and esophageal cancer patients, infectiouscomplications and hospital stay. Other clinical situations that benefit from the use of IN are pancreatic cancer surgery, colorectal cancer surgeryand major burns. More controlled, prospective, and randomized studies are necessary to confirm the potential benefits of IN in other clinical situations such as non-esophageal thoracic surgery, bladder cancer, gynecological surgery, hip fracture, liver pathology and COVID-19, among others. (AU)


Subject(s)
Humans , Nutritional Sciences , 52503 , Immunity , Glutamine , Fatty Acids, Omega-3 , Nucleotides
3.
Nutr Hosp ; 40(1): 186-199, 2023 Feb 15.
Article in Spanish | MEDLINE | ID: mdl-36602129

ABSTRACT

Introduction: Immunonutrition is a science that encompasses aspects related to nutrition, immunity, infection, inflammation and tissue damage. Immunomodulatory formulas have shown benefits in a wide variety of clinical situations. The objective of this work was to review the available evidence in immunonutrition (IN). For this, a bibliographic search has been carried out with the keywords: immunonutrition, arginine, glutamine, nucleotides, omega-3 fatty acids, ERAS, fast-track. Clinical trials, reviews and clinical practice guidelines have been included. IN has been shown to reduce postoperative fistulae in head and neck cancer patients and in gastric and esophageal cancer patients, infectious complications and hospital stay. Other clinical situations that benefit from the use of IN are pancreatic cancer surgery, colorectal cancer surgery and major burns. More controlled, prospective, and randomized studies are necessary to confirm the potential benefits of IN in other clinical situations such as non-esophageal thoracic surgery, bladder cancer, gynecological surgery, hip fracture, liver pathology and COVID-19, among others.


Introducción: La inmunonutrición es una ciencia que engloba aspectos relacionados con la nutrición, la inmunidad, la infección, la inflamación y el daño tisular. Las fórmulas inmunomoduladoras han demostrado beneficios en una amplia variedad de situaciones clínicas. El objetivo de este trabajo es revisar la evidencia disponible en inmunonutrición (IN). Para ello, se ha realizado una búsqueda bibliográfica con las palabras clave: inmunonutrición, arginina, glutamina, nucleótidos, ácidos grasos omega-3, ERAS, fast-track. Se han incluido ensayos clínicos, revisiones y guías de práctica clínica. La IN ha demostrado reducir las fístulas en el postoperatorio en pacientes con cáncer de cabeza y cuello. En pacientes con cáncer gástrico y cáncer de esófago, la IN se asocia a una disminución de las complicaciones infecciosas y la estancia hospitalaria. Otras situaciones clínicas que se benefician del uso de la IN son la cirugía del cáncer de páncreas, la cirugía del cáncer colorrectal y los grandes quemados. Son necesarios más estudios controlados, prospectivos y aleatorizados para confirmar los potenciales beneficios de la IN en otras situaciones clínicas como la cirugía torácica no esofágica, el cáncer vesical, la cirugía ginecológica, la fractura de cadera, la patología hepática y la COVID-19, entre otros.


Subject(s)
COVID-19 , Esophageal Neoplasms , Fatty Acids, Omega-3 , Stomach Neoplasms , Humans , Arginine , Fatty Acids, Omega-3/therapeutic use , Immunonutrition Diet , Postoperative Complications/prevention & control , Prospective Studies
4.
Clin Ther ; 43(4): e111-e121, 2021 04.
Article in English | MEDLINE | ID: mdl-33712271

ABSTRACT

PURPOSE: To evaluate the effectiveness, adverse reactions, and adherence to treatment of hypolipidemic inhibitors of proprotein convertase subtilisin/kexin type 9 (PCSK9is) in a context of real clinical practice. METHODS: We present an observational, retrospective, descriptive, multicenter study of patients with hypercholesterolemia who began treatment with PCSK9is between January 2017 and December 2019, with a minimum treatment period of 3 months. The main variable we recorded was the frequency of cardiovascular events (cardiovascular death, myocardial infarction, stroke, coronary revascularization, and hospitalization for unstable angina) in patients treated with PCSK9is. We recorded patient demographic characteristics and cardiovascular risk factors at onset of treatment as well as LDL-C levels and their reductions at 3, 6, 12, and 24 months. We calculated adherence to treatment and recorded the adverse reactions during treatment. FINDINGS: A total of 154 patients were studied, 64 (41.6%) of whom were treated with alirocumab and 90 (58.4%) with evolocumab. The initial dose of alirocumab was 75 mg every 14 days in 48 patients (75%) and 150 mg eery 14 days in 16 (25%). All patients who in the evolocumab group received a dose of 140 mg every 14 days. The mean (SD) basal LDL-C level was 159.6 (50.1) mg/dL, the level at 3 months was 87.9 (49.9) mg/dL (mean [SD] decrease, 44.5% [28.2%]), the level at 6 months was 86.7 (49.2) mg/dL (mean [SD] decrease, 46.3% [25.6%]), and the level at 12 months was 80.5 (41.4) (mean [SD] decrease, 48.9% [23.0%]). These values were maintained at 24 months (mean [SD], 80.3 [41.8] mg/dL; mean [SD] decrease, 47.9% [27.8%]). The percentage decrease of LDL-C for both drugs was approximately 50%, which was maintained until 24 months after treatment. Six patients (3.9%) presented with some cardiovascular event: acute myocardial infarction (2 [1.3%]), stroke (1 [0.65%]), coronary revascularization (1 [0.65%]), and hospitalization for unstable angina (2 [1.3%]). We did not see any adverse reactions related to PCSK9i treatment in 76.5% of patients. In the first 6 months, adherence to treatment with PCSK9is, measured as the possession ratio, was a mean (SD) of 99.4% (3.9%). In the rest of the study period (6-24 months), the mean (SD) adherence to treatment was 99.2% (4.7%). IMPLICATIONS: The frequency of cardiovascular events in patients treated with PCSK9is was low and occurred despite adequate adherence to treatment (100% possession ratio) with PCSK9is and concomitant treatment with other hypolipidemics. The effectiveness of PCSK9is is similar to that referred to in other published studies with PCSK9is, and this was maintained in the long term (24 months) with few adverse events, all of which were mild.


Subject(s)
Anticholesteremic Agents , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Hypercholesterolemia , Proprotein Convertase 9 , Antibodies, Monoclonal/adverse effects , Anticholesteremic Agents/adverse effects , Cholesterol, LDL , Humans , Hypercholesterolemia/drug therapy , PCSK9 Inhibitors , Retrospective Studies , Subtilisins , Treatment Outcome
5.
Nutr Hosp ; 34(1): 216-223, 2017 02 01.
Article in Spanish | MEDLINE | ID: mdl-28244794

ABSTRACT

Introduction: Dietary fiber is an important component of human diet. Since each fiber type has specific metabolic and gastrointestinal function effects, in each specific pathology we will have to choose the optimum type of fiber, considering its chemical, physical and physiological properties. Objective:to put partially hydrolyzed guar gum in its place in the complex framework of dietary fiber, to review its physicochemical properties and possible mechanisms of action; as well as its potential usefulness in different clinical situations in adult patients. Methods: non-systematic review in Medline. Results: Partially hydrolyzed guar gum (PHGG) is obtained from a partial enzymatic hydrolysis of guar gum by the enzyme ß-endo-mannanase. It is a soluble, highly fermentable fiber with low viscosity. The fermentation of GGPH in colon produces short chain fatty acids, implicated in the main pathophysiological mechanisms responsible for their clinical effects. Its use in enteral nutrition associated diarrhea is supported by several studies and by the recommendations of scientific societies such as the European Society for Clinical Nutrition and Metabolism and the American Society for Parenteral and Enteral Nutrition. The usefulness of GGPH has been studied in many other clinical situations, such as diabetes, hypercholesterolemia, bacterial overgrowth, etc. with promising results. Conclusions: GGPH is useful in the management of enteral nutrition associated diarrhea. In other clinical situations, more quality studies would be necessary in order to make concrete recommendations.


Introducción: la fibra dietética es un componente importante de la dieta humana. Cada tipo de fibra tiene efectos específicos a nivel metabólico y en el funcionamiento gastrointestinal, por lo que en cada patología concreta habremos de elegir la fibra óptima teniendo en cuenta sus propiedades químicas, físicas y fisiológicas. Objetivo: encuadrar la goma guar parcialmente hidrolizada en su lugar en el complejo marco de la fibra dietética, revisar sus propiedades físico-químicas y posibles mecanismos de acción; así como su potencial utilidad en distintas situaciones clínicas en pacientes adultos. Métodos: revisión no sistemática en Medline. Resultados: la goma guar parcialmente hidrolizada (GGPH) se obtiene a partir de una hidrólisis enzimática parcial de la goma guar mediantela enzima ß-endo-mananasa. Se trata de una fibra soluble, altamente fermentable y de baja viscosidad. La fermentación de la GGPH a nivel colónico produce ácidos grasos de cadena corta, implicados en los principales mecanismos fisiopatólogicos responsables de sus efectos a nivel clínico. Su uso en la diarrea asociada a la nutrición enteral está avalada por diversos estudios y por la recomendaciones de sociedades científicas como la European Society for Clinical Nutrition and Metabolism y la American Society for Parenteral and Enteral Nutrition. Se ha estudiado la utilidad de la GGPH en otras muchas situaciones clínicas, como diabetes, hipercolesterolemia, sobrecrecimiento bacteriano, etc. con resultados prometedores. Conclusiones: la GGPH es útil en el manejo de la diarrea asociada a nutrición enteral. Respecto a otras situaciones clínicas, serían necesarios más estudios de calidad para poder hacer recomendaciones concretas.


Subject(s)
Galactans/therapeutic use , Mannans/therapeutic use , Plant Gums/therapeutic use , Diarrhea/etiology , Diarrhea/prevention & control , Dietary Fiber/pharmacology , Enteral Nutrition/adverse effects , Galactans/pharmacology , Humans , Hydrolysis , Mannans/pharmacology , Plant Gums/pharmacology
6.
Nutr. hosp ; 34(1): 216-223, ene.-feb. 2017. tab, ilus
Article in Spanish | IBECS | ID: ibc-161163

ABSTRACT

Introducción: la fibra dietética es un componente importante de la dieta humana. Cada tipo de fibra tiene efectos específicos a nivel metabólico y en el funcionamiento gastrointestinal, por lo que en cada patología concreta habremos de elegir la fibra óptima teniendo en cuenta sus propiedades químicas, físicas y fisiológicas. Objetivo: encuadrar la goma guar parcialmente hidrolizada en su lugar en el complejo marco de la fibra dietética, revisar sus propiedades físico-químicas y posibles mecanismos de acción; así como su potencial utilidad en distintas situaciones clínicas en pacientes adultos. Métodos: revisión no sistemática en Medline. Resultados: la goma guar parcialmente hidrolizada (GGPH) se obtiene a partir de una hidrólisis enzimática parcial de la goma guar mediante la enzima β-endo-mananasa. Se trata de una fibra soluble, altamente fermentable y de baja viscosidad. La fermentación de la GGPH a nivel colónico produce ácidos grasos de cadena corta, implicados en los principales mecanismos fi siopatólogicos responsables de sus efectos a nivel clínico. Su uso en la diarrea asociada a la nutrición enteral está avalada por diversos estudios y por la recomendaciones de sociedades científicas como la European Society for Clinical Nutrition and Metabolism y la American Society for Parenteral and Enteral Nutrition. Se ha estudiado la utilidad de la GGPH en otras muchas situaciones clínicas, como diabetes, hipercolesterolemia, sobrecrecimiento bacteriano, etc. con resultados prometedores. Conclusiones: la GGPH es útil en el manejo de la diarrea asociada a nutrición enteral. Respecto a otras situaciones clínicas, serían necesarios más estudios de calidad para poder hacer recomendaciones concretas (AU)


Introduction: Dietary fiber is an important component of human diet. Since each fiber type has specific metabolic and gastrointestinal function effects, in each specific pathology we will have to choose the optimum type of fiber, considering its chemical, physical and physiological properties. Objective: to put partially hydrolyzed guar gum in its place in the complex framework of dietary fiber, to review its physicochemical properties and possible mechanisms of action; as well as its potential usefulness in different clinical situations in adult patients. Methods: non-systematic review in Medline. Results: Partially hydrolyzed guar gum (PHGG) is obtained from a partial enzymatic hydrolysis of guar gum by the enzyme β-endo-mannanase. It is a soluble, highly fermentable fiber with low viscosity. The fermentation of GGPH in colon produces short chain fatty acids, implicated in the main pathophysiological mechanisms responsible for their clinical effects. Its use in enteral nutrition associated diarrhea is supported by several studies and by the recommendations of scientific societies such as the European Society for Clinical Nutrition and Metabolism and the American Society for Parenteral and Enteral Nutrition. The usefulness of GGPH has been studied in many other clinical situations, such as diabetes, hypercholesterolemia, bacterial overgrowth, etc. with promising results. Conclusions: GGPH is useful in the management of enteral nutrition associated diarrhea. In other clinical situations, more quality studies would be necessary in order to make concrete recommendations (AU)


Subject(s)
Humans , Cyamopsis , Food, Fortified , Enteral Nutrition/methods , Inflammatory Bowel Diseases/diet therapy , Dietary Fiber , Diarrhea/diet therapy , Diarrhea/etiology
7.
Endocrinol. nutr. (Ed. impr.) ; 60(3): 115-118, mar. 2013. tab
Article in Spanish | IBECS | ID: ibc-110911

ABSTRACT

Introducción y objetivo La enfermedad nodular tiroidea es un proceso frecuente en nuestra práctica clínica y la punción-aspiración con aguja fina (PAAF) es la técnica diagnóstica de elección. Su mayor limitación es la prevalencia de muestras no diagnósticas. Desde la implantación en 2007 de los criterios de Bethesda (documento de consenso sobre los criterios morfológicos y la terminología diagnóstica en la interpretación de las extensiones citológicas de tiroides) se demostró en nuestro servicio una mayor prevalencia de PAAF no diagnósticas. Decidimos añadir a la técnica habitual la recogida y el centrifugado del material remanente en las agujas de punción mediante lavado en una solución ThinPrep® y evaluar el aumento de la rentabilidad diagnóstica de la PAAF tras este cambio. Pacientes y métodos Muestreo sistemático de 168 pacientes a los que se realizó una PAAF en el Servicio de Endocrinología y Nutrición del Hospital Xeral-Cíes de Vigo desde enero de 2010 hasta noviembre (..) (AU)


Background and objective Nodular thyroid disease is a common condition in our clinical practice, and fine needle aspiration biopsy (FNAB) is the diagnostic procedure of choice. Its main limitation is the number of non-diagnostic samples. Since the Bethesda criteria were implemented in 2007 (a consensus document on the morphologic criteria and diagnostic terminology for interpretation of thyroid cytological samples), a higher prevalence of non-diagnostic FNAB was shown. In addition to the standard technique, we decided to collect and centrifuge the material remaining in puncture needles by washing them in a ThinPrep® solution, and to assess the increase in the diagnostic yield of FNAB after this change. Patients and methods Systematic sampling of 168 patients who underwent FNAB at the Nutrition and Endocrinology Department of the Xeral-Cies Hospital (Vigo, Spain) from January 2010 to November 2011. Patients were classified into 2 groups: 75 patients in whom the residual material in the needle was not collected (non-washing group) and 93 patients in whom the material was collected (washing-group). All FNABs were performed by the same endocrinologist. Data are shown as percentage (± standard error) for ordinal variables or as mean (± standard deviation) for quantitative variables. A Chi-square test was used for statistical analysis (..) (AU)


Subject(s)
Humans , Thyroid Neoplasms/pathology , Biopsy, Fine-Needle/methods , Thyroid Nodule/pathology , Biopsy, Fine-Needle/instrumentation , Cytological Techniques/methods
8.
Endocrinol Nutr ; 60(3): 115-8, 2013 Mar.
Article in English, Spanish | MEDLINE | ID: mdl-23347650

ABSTRACT

BACKGROUND AND OBJECTIVE: Nodular thyroid disease is a common condition in our clinical practice, and fine needle aspiration biopsy (FNAB) is the diagnostic procedure of choice. Its main limitation is the number of non-diagnostic samples. Since the Bethesda criteria were implemented in 2007 (a consensus document on the morphologic criteria and diagnostic terminology for interpretation of thyroid cytological samples), a higher prevalence of non-diagnostic FNAB was shown. In addition to the standard technique, we decided to collect and centrifuge the material remaining in puncture needles by washing them in a ThinPrep(®) solution, and to assess the increase in the diagnostic yield of FNAB after this change. PATIENTS AND METHODS: Systematic sampling of 168 patients who underwent FNAB at the Nutrition and Endocrinology Department of the Xeral-Cies Hospital (Vigo, Spain) from January 2010 to November 2011. Patients were classified into 2 groups: 75 patients in whom the residual material in the needle was not collected (non-washing group) and 93 patients in whom the material was collected (washing-group). All FNABs were performed by the same endocrinologist. Data are shown as percentage (± standard error) for ordinal variables or as mean (± standard deviation) for quantitative variables. A Chi-square test was used for statistical analysis of comparisons between percentages, and a Student's t test for comparisons between quantitative variables. A value of p<0.05 was considered statistically significant. RESULTS: No significant differences were found between the groups in age, sex, plasma TSH levels or nodule size. The rate of non-diagnostic FNABs was 44% (± 0.06) in the non-washing group and 17.2% (± 0.04%) in the washing group, with a significant difference (p < 0.01). DISCUSSION: Collection and subsequent processing of the residual material in the needle after FNAB significantly decreased the prevalence of non-diagnostic punctures in our patients. Collection of the residual material in the needle in this way is strongly recommended.


Subject(s)
Biopsy, Fine-Needle/methods , Thyroid Gland/pathology , Thyroid Nodule/pathology , Female , Humans , Male , Middle Aged
9.
Endocrinol Nutr ; 58(5): 229-35, 2011 May.
Article in Spanish | MEDLINE | ID: mdl-21530422

ABSTRACT

BACKGROUND AND OBJECTIVES: Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of an early diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus a later diagnosis with serum calcitonin. PATIENTS AND METHOD: Retrospective descriptive study of 8 members of a MEN 2A family by C634Y mutation. We performed serum calcitonin screening until 1999 and subsequently RET genetic testing was obtained. Carriers underwent total thyroidectomy and periodic determination of calcitonin, urinary metanephrines, calcium, phosphorus and neck and abdominal imaging techniques. RESULTS: Five patients were diagnosed by calcitonin familial screening and all of them have high calcitonin by now. Three patients were diagnosed by genetic testing (an adult and two children) and they are free of disease. Calcitonin was closely monitored in children and they underwent surgery when it started to raise, at 6 and 10 years old respectively, finding nodular C-cell hyperplasia in both. Of 8 carriers 3 developed pheochromocytomas, bilateral and asynchronous, one-half had normal urinary metanephrines and two of them were simultaneous with MTC. No patient had biochemical data suggesting hyperparathyroidism although in one patient multiple parathyroid adenomas were found at thyroidectomy. CONCLUSIONS: RET genetic analysis has achieved an early diagnosis and treatment with no development of MTC in our patients, adjusting the time and type of surgery and allowing a genotype-phenotype correlation. It demonstrates how a genetic alteration is associated with a pathology that we can prevent and manage improving the prognosis of our patients.


Subject(s)
Mutation , Proto-Oncogene Proteins c-ret/genetics , Adult , Child , Humans , Multiple Endocrine Neoplasia Type 2a/genetics , Pedigree , Phenotype , Proto-Oncogene Mas , Retrospective Studies
10.
Endocrinol. nutr. (Ed. impr.) ; 58(5): 229-235, mayo 2011. ilus, tab
Article in Spanish | IBECS | ID: ibc-94213

ABSTRACT

Antecedentes y objetivos: El estudio genético del protooncogén RET permite un diagnóstico precoz del síndrome de neoplasia endocrina múltiple tipo 2 y establece una correlación entre el genotipo y las manifestaciones clínicas. El objetivo del presente trabajo es demostrar los beneficios del diagnóstico precoz por estudio genético seguido de tratamiento temprano en la curación del carcinoma medular de tiroides (CMT) frente al diagnóstico más tardío con la calcitonina sérica. Pacientes y método: Estudio descriptivo retrospectivo de 8 miembros de una familia con MEN2A por mutación C634Y. Se realizó despistaje con calcitonina sérica hasta 1999 y estudio genético de RET posteriormente. A los portadores se les realizó tiroidectomía total y determinaciones periódicas de calcitonina, metanefrinas urinarias, calcio, fósforo y pruebas de imagen a nivelcervical y abdominal. Resultados: Los 5 pacientes diagnosticados por despistaje familiar con calcitonina presentan en la actualidad cifras de calcitonina elevadas. Los 3 diagnosticados por estudio genético (un adulto y dos niños) se encuentran libres de enfermedad. En los niños se monitorizó la calcitonina y se les intervino cuando esta comenzó a elevarse, a los 6 y 10 años respectivamente, hallándose hiperplasia nodular de células C en ambos. De los 8 afectos 3 presentaron feocromocitomas, bilaterales y asincrónicos, la mitad con metanefrinas urinarias (..) (AU)


Background and objectives: Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of a nearly diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus alater diagnosis with serum calcitonin. Patients and method: Retrospective descriptive study of 8 members of a MEN 2A family byC634Y mutation. We performed serum calcitonin screening until 1999 and subsequently RET genetic testing was obtained. Carriers underwent total thyroidectomy and periodic determination of calcitonin, urinary metanephrines, calcium, phosphorus and neck and abdominal imagingte chniques. Results: Five patients were diagnosed by calcitonin familial screening and all of them have highcalcitonin by now. Three patients were diagnosed by genetic testing (an adult and two children)and they are free of disease. Calcitonin was closely monitored in children and they underwentsurgery when it started to raise, at 6 and 10 years old respectively, finding nodular C-cellhyperplasia in both. Of 8 carriers 3 developed pheochromocytomas, bilateral and asynchronous,one-half had normal urinary metanephrines and two of them were simultaneous with MTC. Nopatient had biochemical data suggesting hyperparathyroidism although in one patient multipleparathyroid adenomas were found at thyroidectomy. Conclusions: RET genetic analysis has achieved an early diagnosis and treatment with nodevelopment of MTC in our patients, adjusting the time and type of surgery and allowing agenotype-phenotype correlation. It demonstrates how a genetic alteration is associated with apathology that we can prevent and manage improving the prognosis of our patients (AU)


Subject(s)
Humans , Multiple Endocrine Neoplasia Type 2a/genetics , Thyroid Neoplasms/genetics , Carcinoma, Medullary/genetics , Genetic Markers , Proto-Oncogene Proteins c-ret/genetics , Mutation
11.
Endocrinol Nutr ; 56(9): 463-6, 2009 Nov.
Article in Spanish | MEDLINE | ID: mdl-20096211

ABSTRACT

We report a case of a patient with longstanding Behçet disease, with neurological symptoms predominantly, who became hospitalized for adrenal insufficiency, caused by isolated deficiency of corticotropin (DAACTH). DAACTH is a typical characteristic of hypophysitis, reported in association with many autoimmune diseases. Nevertheless, hypothalamic-pituitary injury in Behçet disease is exceptional. We review the literature and possible mechanisms of this association until now not reported.


Subject(s)
Adrenocorticotropic Hormone/deficiency , Behcet Syndrome/etiology , Aged , Humans , Male
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