Survival of Mexican children with acute myeloid leukaemia who received early intensification chemotherapy and an autologous transplant.

BACKGROUND: In Mexico and other developing countries, few reports of the survival of children with acute leukaemia exist. Objective. We aimed at comparing the disease-free survival of children with acute myeloid leukaemia who, in addition to being treated with the Latin American protocol of chemotherapy and an autologous transplant, either underwent early intensified chemotherapy or did not undergo such treatment. PROCEDURE: This was a cohort study with a historical control group, forty patients, less than 16 years old. Group A (20 patients), diagnosed in the period 2005-2007, was treated with the Latin American protocol of chemotherapy with an autologous transplant plus early intensified chemotherapy: high doses of cytarabine and mitoxantrone. Group B (20 patients), diagnosed in the period 1999-2004, was treated as Group A, but without the early intensified chemotherapy. RESULTS: Relapse-free survival for Group A was 90% whereas that for Group B it was 60% (P = 0.041). Overall survival for Group A (18, 90%) was higher than that for Group B (60%). Complete remission continued for two years of follow-up. CONCLUSIONS: Relapse-free survival for paediatric patients treated with the Latin American protocol of chemotherapy with an autologous transplant plus early intensified chemotherapy was higher than that for those who did not receive early intensified chemotherapy.

[Diagnosis and treatment guideline for primary hypothyroidism in adulthood]. / Guía de práctica clínica. Diagnóstico y tratamiento del hipotiroidismo primario en adultos.

Our objective was to develop clinical guidelines based on the best clinical evidence to help the staff of medical setting of all levels (first, second and third medical attention levels) to provide evidence based care and diagnosis of hypothyroidism in adults nationwide. The guidelines were built using structured and relevant clinical questions. A strategy was developed to identify the main clinical guidelines for hypothyroidism in adult patient. The working group selected six documents. For aspects not considered in those documents, structured searches using Pubmed, Medical Disability Advisor, and Cochrane Library Plus were done. The results were qualified according its level of evidence and grade of recommendation. The diagnosis of hypothyroidism should be done precisely and without delay. Specialized care should be used rationally, using primary care units as the main resource for the treatment of hypothyroidism. This is the reason why the first primary care physicians should understand and apply a guideline for the diagnosis and treatment of hypothyroidism in adulthood.

[Unsual clinical signs of primary hyperparathroidism]. / Manifestaciones clínicas inusuales del hiperparatiroidismo primario.

BACKGROUND: A growing number of patients with primary hyperparathyroidism (PHPT) are diagnosed in the absence of symptoms following routine biochemical screening. However, in some countries, overt manifestations and osteitis fibrosa cystica (OFC) still dominate the clinical profile of PHPT patients. METHODS: We retrospectively studied clinical and biochemical manifestations of 47 consecutive patients with primary hyperparathyroidism who were treated with parathyroidectomy from October 1993 to June 2005. RESULTS: Mean age was of 51.3 years. Our sample included 40 women (85%) and 7 men (15%). Seventy eight percent of cases had radiological features of OFC, namely subperiosteal bone resorption, cortical cysts and osteopenia. Pathological fracture occurred in nine patients (19.1%). Fifteen (32%) patients had clinically evident bony deformities or brown tumors mostly located in the mandible and maxilla. CONCLUSIONS: Our results indicate that symptomatic osteitis fibrosa cystica and severe decrease of bone mineral density were the primary manifestations of primary hyperparathyroidism. Most patients were referred to an oncology hospital for treatment due to a suspected malignant neoplasm. A comprehensive clinical evaluation with biochemical markers, imaging studies and histological results is needed to establish a possible diagnosis of primary hyperparathyroidism.

Manifestaciones clínicas inusuales del hiperparatiroidismo primario / Unsual clinical signs of primary hyperparathroidism

Introducción: Un creciente número de pacientes con hiperparatiroidismo primario son diagnosticados en la ausencia de síntomas, gracias a la determinación rutinaria de calcio sérico. Sin embargo, en algunos países las manifestaciones típicas continúan dominando la presentación del hiperparatiroidismo primario. Métodos: Estudiamos retrospectivamente las manifestaciones clínicas y bioquímicas de 47 pacientes consecutivos con hiperparatiroidismo primario, tratados con paratiroidectomía entre octubre de 1993 y junio de 2005. Resultados: La edad media fue de 51.3 años. Se incluyeron 40 mujeres (85%) y siete varones (15%). El 63% de los pacientes fue referido por la sospecha de neoplasia maligna. En 78% de los casos se identificaron lesiones radiológicas compatibles con osteítis fibrosa quística, resorción subperóstica, lesiones líticas múltiples, osteopenia y osteoporosis. La presencia de fractura en terreno patológico se observó en 19.1%. Quince pacientes (32%) tenían tumores pardos, con localización más frecuentemente en la mandíbula y la maxila. Conclusiones: En esta serie, la osteítis fibrosa quística sintomática y la severa disminución de la densidad mineral ósea fueron las manifestaciones dominantes del hiperparatiroidismo primario. En su mayoría, los pacientes fueron referidos a una unidad oncológica para su tratamiento debido a la sospecha de alguna neoplasia maligna. Una adecuada evaluación clínica, bioquímica, radiológica e histológica es necesaria para establecer el posible diagnóstico de hiperparatiroidismo.

BACKGROUND: A growing number of patients with primary hyperparathyroidism (PHPT) are diagnosed in the absence of symptoms following routine biochemical screening. However, in some countries, overt manifestations and osteitis fibrosa cystica (OFC) still dominate the clinical profile of PHPT patients. METHODS: We retrospectively studied clinical and biochemical manifestations of 47 consecutive patients with primary hyperparathyroidism who were treated with parathyroidectomy from October 1993 to June 2005. RESULTS: Mean age was of 51.3 years. Our sample included 40 women (85%) and 7 men (15%). Seventy eight percent of cases had radiological features of OFC, namely subperiosteal bone resorption, cortical cysts and osteopenia. Pathological fracture occurred in nine patients (19.1%). Fifteen (32%) patients had clinically evident bony deformities or brown tumors mostly located in the mandible and maxilla. CONCLUSIONS: Our results indicate that symptomatic osteitis fibrosa cystica and severe decrease of bone mineral density were the primary manifestations of primary hyperparathyroidism. Most patients were referred to an oncology hospital for treatment due to a suspected malignant neoplasm. A comprehensive clinical evaluation with biochemical markers, imaging studies and histological results is needed to establish a possible diagnosis of primary hyperparathyroidism.

[Uncontrolled chronic glycaemia in diabetic patients with neoplasm increases the risk of early surgical complications]. / Descontrol glucémico crónico y riesgo de complicaciones posoperatorias tempranas en el diabético con cáncer.

BACKGROUND: The effect of uncontrolled chronic glycemia (UCG) in the diabetic patient with a neoplasm (DPN) has not been evaluated during the early postoperative period. Our objective was to determine the frequency of early surgical complications in the DPN with UCG. METHODS: A cohort of 184 consecutive diabetic patients who had a histological malignant diagnosis were studied; they were matched with 184 non-diabetic controls by age, gender, neoplasm type and surgery, those who received chemotherapy or irradiation 30 days before surgery were excluded. Fasting blood glucose, HbA1c, presence of diabetic complications and co-morbidity before surgery; type of surgery and postoperative early morbidity and mortality were measured. RESULTS: The DPN with UCG had a higher frequency of surgical postoperative complications than their controls. The presence of comorbidity (p < 0.011) and HbA1c > 6.5 % (p < 0.011) were independent and ominous significant predictors. CONCLUSIONS: Preoperative UCG increases the risk of early surgical complications in DPN.

Diagnóstico molecular de la neoplasia endocrina múltiple tipo 2B en un caso de novo con la mutación 918 en el oncogen ret / Molecular diagnosis of de novo 918 mutation of ret oncogne in a case of multiple endocrine neoplasia type 2B

Introducción. La neoplasia endocrina múltiple tipo 2B (NEM2B) es un síndrome con carácter dominante hereditario que se caracteriza por el desarrollo de diversas neoplasias de origen neuroendocrino en distintos órganos, tales como carcinoma medular de tiroides (CMT), feocromocitomas, neuromas mucosales, ganglioneuromas del aparato gastrointestinal, también se observan anormalidades esqueléticas y oftálmicas. En más de 95 por ciento de los casos, este padecimiento se asocia con una mutación puntual específica en el dominio tirosina cinasa del proto-oncogen ret, en el codón 918 (METÕTHR), la cual surge de novo en 50 por ciento de los pacientes. Material y métodos. El probando fue un paciente masculino de 19 años de edad sin antecedentes de importancia para la enfermedad y que inició su padecimiento a los 5 años con neuromas submucosos en lengua y labios, así como habitus marfanoide que se acentuó a los 19 años. Determinándose la presencia de la mutación mencionada anteriormente en el DNA de leucocitos de sangre periférica y de carcinoma medular de tiroides de este paciente afectado por NEM2B y se realizó la búsqueda de la misma en leucocitos de sus familiares. Resultados. Los elevados niveles séricos de calcitonina basal (600 pg/mL) sugirieron, además del aspecto clínico y evolución, que el paciente era portador de NEM2B. El estudio histopatológico de tiroides reveló la presencia de CTM clásico. Al estudio del DNA de células de sangre periférica se observó una banda extra sugiriendo que contenía una mutación. Se confirmó la presencia de la mutación ATGÕACG en el codón 918. Conclusión. Al no encontrarse la mutación en los familiares del paciente sugiere que ésta surgió de novo en etapas tempranas del desarrollo embrionario.