RESUMEN
BACKGROUND: Pituitary adenomas (PA) associated with pheochromocytomas/paragangliomas (Pheo/PGL), also known as "the three P association" or "3PAs" could be the results of coincidence, but new evidence supports a common pathogenic mechanism in some patients. Our aim is to report the clinical data, surgical outcome, genetic findings of a large case series and review the current knowledge on this topic. METHODS AND RESULTS: In a retrospective multicentre study, we compiled 10 patients with PAs (6 new unreported cases). Six patients were female with mean age of 51.6⯱â¯18.0â¯years. PA were: 6 acromegaly, 3 prolactinoma and 1 non-functioning PA (NFPA). Among the Pheo/PGL, 7 patients had a single tumour (4 Pheo and 3 PGL) and 3 patients had multiple or bilateral disease (2 PGL and 1 Pheo). Patients with GH-secreting PA and NFPA underwent surgery, while patients with prolactinoma received medical treatment (one patient required surgery). Unilateral adrenalectomy was carried out in all single Pheo and a bilateral procedure was performed in the patient with bilateral tumour. A single tumour was resected in two patients with multiple PGL. We found 3 germline pathogenic mutations: 2 in SDHB (c.166-170delCCTCA and a gross deletion involving exon 1) and 1 SDHD (p.P81L exon 3). Two variants of uncertain significance: 1 in MEN1 (c.1618Câ¯>â¯T; p.Pro540Ser) and 1 in RET (c.2556Câ¯>â¯G, p.Ile852Met), and finally a RETM918T somatic mutation in a Pheo tissue. CONCLUSION: We actively suggest considering the possibility of hereditary disease in all cases with 3PA and performing a complete genetic study.
Asunto(s)
Adenoma/genética , Neoplasias de las Glándulas Suprarrenales/genética , Mutación , Neoplasias Primarias Múltiples/genética , Paraganglioma/genética , Feocromocitoma/genética , Neoplasias Hipofisarias/genética , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , SíndromeAsunto(s)
Adenoma/genética , Neoplasias de las Glándulas Suprarrenales/genética , Neoplasia Endocrina Múltiple/genética , Paraganglioma/genética , Feocromocitoma/genética , Neoplasias Hipofisarias/genética , Succinato Deshidrogenasa/genética , Adulto , Exones/genética , Humanos , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple/clasificación , Eliminación de SecuenciaRESUMEN
The purpose of this paper was to develop a statistical methodology to optimize tablet manufacturing considering drug chemical and physical properties applying a crossed experimental design. The assessed model drug was dried ferrous sulphate and the variables were the hardness and the relative proportions of three excipients, binder, filler and disintegrant. Granule properties were modeled as a function of excipient proportions and tablet parameters were defined by the excipient proportion and hardness. The desirability function was applied to achieve optimal values for excipient proportions and hardness. In conclusion, crossed experimental design using hardness as the only process variable is an efficient strategy to quickly determine the optimal design process for tablet manufacturing. This method can be applied for any tablet manufacturing method.
Asunto(s)
Excipientes/química , Compuestos Ferrosos/química , Modelos Estadísticos , Tecnología Farmacéutica/métodos , Celulosa/química , Química Farmacéutica , Dureza , Tamaño de la Partícula , Povidona/química , Polvos , Almidón/análogos & derivados , Almidón/química , Ácidos Esteáricos/química , Comprimidos , Factores de TiempoRESUMEN
Se estudiaron 48 niños, con crisis de asma leve o moderada, que fueron atendidos en el servicio de Emergencia del Hospital Pediatrico "Elias Toro". Los pacientes estudiados fueron tratados con nebulizaciones a base de fenoterol o bromuro de ipratropio; con cada medicamento fueron tratados 24 pacientes. Se evaluaron parámetros clínicos y flujo espiratorio pico, antes y 60 minutos después de la admistración de cada medicamento. Los cambios observados a raíz de las terapias aplicadas fueron favorables y estadísticamente significativos con relación a frecuencia respiratoria, flujo espiratorio pico y escala de valoración clínica, sobre todo en el grupo de pacientes que recibieron la nebulización con fenoterol. Se concluye que los farmacos agonistas beta2-adrenérgicos y los anticolinérgicos en forma de nebulizaciones constituyen una terapia eficaz e inocua en el tratamiento de las crisis agudas, leves y moderadas de asma