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1.
Expert Rev Mol Diagn ; 21(1): 3-15, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33305634

RESUMO

Introduction: Precision medicine is already a reality in oncology, since biomarker-driven therapies have clearly improved patient survival. Furthermore, a new, minimally invasive strategy termed 'liquid biopsy' (LB) has revolutionized the field by allowing comprehensive cancer genomic profiling through the analysis of circulating tumor DNA (ctDNA). However, its detection requires extremely sensitive and efficient technologies. A powerful molecular tool based on the principle of 'divide and conquer' has emerged to solve this problem. Thus, digital PCR (dPCR) allows absolute and accurate quantification of target molecules.Areas covered: In this review we will discuss the fundamentals of dPCR and the most common approaches used for partition of samples and quantification. The advantages and limitations of dPCR will be mentioned in the context of LB in oncology.Expert opinion: In our opinion, dPCR has proven to be one of the most sensitive methods available for LB analysis, albeit some aspects such as its capacity of multiplexing and protocol standardization still require further improvements. Furthermore, the increasing sensitivities and lower costs of next generation sequencing (NGS) methods position dPCR as a confirmatory and complementary technique for NGS results which will likely prove to be very useful for treatment monitoring and assessing minimal residual disease.


Assuntos
Biópsia Líquida/métodos , Reação em Cadeia da Polimerase , Humanos , Neoplasia Residual/diagnóstico
2.
Medisur ; 12(1): 118-124, feb. 2014.
Artigo em Espanhol | LILACS | ID: lil-760248

RESUMO

Los adenomas de hipófisis son tumores benignos originados en uno de los cinco tipos celulares de la hipófisis anterior. La insuficiencia suprarrenal secundaria ocurre cuando las glándulas adrenales no producen hormonas por la falta de hormona adenocorticotrópica hipofisaria o del factor liberador de corticotropina hipotalámico. Se presenta el caso de una paciente de 37 años de edad, que un año atrás comenzó con fasciculaciones musculares de piernas y brazos, debilidad muscular, cansancio fácil, dolores musculares, cefalea hemicránea derecha, intensa y pulsátil, entre otros síntomas. Se le realizaron varios estudios (dosificación de cortisol en sangre, hormona adenocorticotrópica, calcio y fósforo en sangre y orina, resonancia magnética de cráneo) que permitieron el diagnóstico de adenoma de hipófisis con déficit aislado de hormona adenocorticotrópica e insuficiencia suprarrenal secundaria. El tratamiento con esteroides y suplementos de calcio garantizaron la evolución favorable.


Pituitary adenomas are benign tumors arising from one of the five cell types in the anterior pituitary. Secondary adrenal insufficiency occurs when the adrenal glands do not produce hormones due to the lack of pituary adrenocorticotropic hormone or hypothalamic corticotropin-releasing factor. The case of a 37-year-old female patient who started developing muscle twitching in legs and arms, muscular weakness, fatigue, muscle aches, severe and throbbing hemicrania on the right side, among other symptoms, a year ago is presented. Several tests were performed (cortisol level, adrenocorticotropic hormone, calcium and phosphorus in blood and urine, magnetic resonance imaging of the skull), leading to the diagnosis of pituitary adenoma with isolated adrenocorticotropic hormone deficiency and secondary adrenal insufficiency. Treatment with steroids and calcium supplements ensured a satisfactory recovery.

3.
Clin Transl Oncol ; 13(4): 249-53, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21493185

RESUMO

In May 2007, the Consorcio Hospital General Universitario de Valencia created the position of "Liaison Oncologist". The holder of this position is responsible for coordinating specialised and primary hospital care in the geographic area of Valencia known as Health Care Department 9 to reduce the waiting time between cancer diagnosis and treatment. In this article we describe the implementation of the innovative proposal of the Liaison Oncologist's Consultation Clinic, which, apart from speeding up and directing diagnostic processes, facilitates access to treatment, prevents duplication of consultations and exploratory procedures by establishing therapeutic plans (preferential channels), gives continuity to diagnostic and therapeutic mechanisms, and permits active follow-up of patients who have finished treatment. An analysis of the results obtained shows that the clinic has allowed us to integrate the various aspects of medical oncology into one system and make it available to patients and primary and specialised care professionals. This system provides the patient with the highest quality of integrated health care, ensures the availability of continued health care to long-term survivors and establishes preferential channels between primary care and specialised cancer care to achieve a quick diagnosis.


Assuntos
Instituições de Assistência Ambulatorial/organização & administração , Assistência Ambulatorial/organização & administração , Prestação Integrada de Cuidados de Saúde/organização & administração , Oncologia/organização & administração , Sobreviventes , Humanos
4.
Med. oral patol. oral cir. bucal (Internet) ; 10(3): 210-214, mayo-jul. 2005. ilus
Artigo em Es | IBECS | ID: ibc-038646

RESUMO

La enfermedad de Jacob se describe como una entidad infrecuente en la cual se establece una formación articular sinovial entre una apófisis coronoide mandibular elongada y el hueso malar homolateral. El Síndrome de disfunción de la articulación temporomandibular(ATM) ha sido postulado como posible factor etiológico del alargamiento este proceso coronoideo. Presentamos el caso de una mujer de 23 años con un desplazamiento discal de ATM de larga evolución y limitación de la apertura oral, que desarrolló una asimetría malar progresiva. La paciente fue sometida a tratamiento quirúrgico mediante una coronoidectomía intraoral y una artroscopia de la ATM homolateral en el mismo acto operatorio. El diagnóstico histológico de la apófisis coronoide examinada fue de exóstosis óseo-cartilaginosa con presencia de fibrocartílago articular en dicha formación. A pesar de la baja prevalencia de esta patología, debe ser considerada como un posible diagnóstico en aquellos pacientes con limitación progresiva de la apertura oral de larga evolución, si bien en ocasiones puede acompañarse de una disfunción articular crónica concomitante como posible causa de la misma


Jacob´s disease is regarded a rare condition in which a joint formation is established between an enlarged mandibular coronoid process and the inner aspect of the zygomatic body. Chronic temporomandibular joint (TMJ) disk displacement has been proposed as etiological factor of coronoid process enlargement. We present a 23-year-old woman with long-standing TMJ dysfunction and restricted interincisal opening, who developed a progressive zygomatic assymetry. The patient underwent treatment by intraoral coronoidectomy and homolateral TMJ arthroscopy in the same surgery. The histopathological diagnosis of the coronoid sample was cartilage-capped exostoses with presence of articular fibrous cartilage. Although the low prevalenceof this entity, it should be considered as a possible diagnosis inpatients with progressive limitation of mouth opening, althougha TMJ syndrome may be present as a cause of this entity


Assuntos
Feminino , Adulto , Humanos , Síndrome da Disfunção da Articulação Temporomandibular/complicações , Síndrome da Disfunção da Articulação Temporomandibular/epidemiologia , Síndrome da Disfunção da Articulação Temporomandibular/fisiopatologia , Hiperplasia/cirurgia , Músculo Temporal/fisiopatologia , Manipulações Musculoesqueléticas , Período Pós-Operatório , Osteocondroma/patologia , Anestesia Geral , Diagnóstico por Imagem , Tomografia Computadorizada por Raios X , Radiografia Panorâmica
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