RESUMO
PURPOSE: The present study evaluates the massive study of gene expression in metastatic breast carcinoma (MBC) patients using microarray gene expression profiling (MAGE) complemented with conventional sequencing, immunohistochemistry (IHC) and fluorescent "in situ" hybridization (FISH), seeking to optimize the treatment in a subset of heavily pretreated patients and with limited life expectancy. PATIENTS, MATERIAL AND METHODS: MBC patients in hormone therapy progression with survival expectancy of at least 3 months (m) have been included. The MAGE contains gene probes representing genes known to potentially interact with available drugs as cited in the literature. RESULTS: Thirty-nine procedures were performed from October 2010 to April 2016. Within the 30 evaluable procedures, considering all hormonal manipulations as a single line, the patients had received a median of 4 treatment lines prior to MAGE (range 1-7). Progression was observed in 6 cases, stable disease (SD) in 7 cases and partial response (PR) in 16 cases, which implies a clinical benefit rate (SD + PR) of 76%. Actuarial median progression-free survival (PFS) was 6 m (95% CI 2.5-9.5) in patients with clinical benefit. The median overall survival (OS) for the entire series was 11 m (95% CI 2.2-19.8). CONCLUSION: Data presented here indicate that the use of MAGE provides relevant information to establish personalized treatment in frail patients with limited life expectancy in which therapeutic futility is a particularly difficult burden to assume.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Tumorais/genética , Neoplasias da Mama/genética , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Medicina de Precisão , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/secundário , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Metástase Neoplásica , Projetos Piloto , Prognóstico , Taxa de SobrevidaRESUMO
Phonoarticulation is characterized by changes in resonance, diadochokinesis, prosody, sound frequency, vocal quality, and intraoral pressure. The main aim of this study was to characterize the phonoarticulation in spinocerebellar ataxia type 3 (SCA3) and correlate it with clinical and genetic factors. Thirty-one patients with SCA3 who were subjected to spontaneous speech recordings and phonoarticulatory diadochokinesis (DDK) participated in the study. Speech analyses were performed starting after 10 s of spontaneous speech, by three experienced speech therapists, using a protocol for dysarthria adapted from the Mayo Clinic. The intra-evaluator reliability was analyzed. The lower the patient's age at disease onset was, the more frequent the occurrences of monofrequency and altered speech rhythm were. Articulation, DDK, resonance, and prosody showed a moderate correlation with the number of "CAG" triplet repeats. We conclude that the phonoarticulation of patients with Machado-Joseph disease (MJD) is characterized by mixed dysarthrophonia with cerebellar and hypokinetic components, and that there is a tendency toward higher frequency of dysarthrophonia symptoms with lower age of disease onset, longer time since onset and higher number of "CAG" triplet repeats.
Assuntos
Disartria/etiologia , Doença de Machado-Joseph/complicações , Transtorno Fonológico/etiologia , Adolescente , Adulto , Idade de Início , Idoso , Disartria/diagnóstico , Disartria/genética , Feminino , Humanos , Doença de Machado-Joseph/genética , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Testes de Articulação da Fala , Transtorno Fonológico/diagnóstico , Transtorno Fonológico/genética , Repetições de Trinucleotídeos , Adulto JovemRESUMO
The objectives of the study were to evaluate the performance of sentinel lymph node biopsy (SLNB) in detecting occult metastases in papillary thyroid carcinoma (PTC) and to correlate their presence to tumor and patient characteristics. Twenty-three clinically node-negative PTC patients (21 females, mean age 48.4 years) were prospectively enrolled. Patients were submitted to sentinel lymph node (SLN) lymphoscintigraphy prior to total thyroidectomy. Ultrasound-guided peritumoral injections of (99m)Tc-phytate (7.4 MBq) were performed. Cervical single-photon emission computed tomography and computed tomography (SPECT/CT) images were acquired 15 min after radiotracer injection and 2 h prior to surgery. Intra-operatively, SLNs were located with a gamma probe and removed along with non-SLNs located in the same neck compartment. Papillary thyroid carcinoma, SLNs and non-SLNs were submitted to histopathology analysis. Sentinel lymph nodes were located in levels: II in 34.7 % of patients; III in 26 %; IV in 30.4 %; V in 4.3 %; VI in 82.6 % and VII in 4.3 %. Metastases in the SLN were noted in seven patients (30.4 %), in non-SLN in three patients (13.1 %), and in the lateral compartments in 20 % of patients. There were significant associations between lymph node (LN) metastases and the presence of angio-lymphatic invasion (p = 0.04), extra-thyroid extension (p = 0.03) and tumor size (p = 0.003). No correlations were noted among LN metastases and patient age, gender, stimulated thyroglobulin levels, positive surgical margins, aggressive histology and multifocal lesions. Sentinel lymph node biopsy can detect occult metastases in PTC. The risk of a metastatic SLN was associated with extra-thyroid extension, larger tumors and angio-lymphatic invasion. This may help guide future neck dissection, patient surveillance and radioiodine therapy doses.
Assuntos
Carcinoma/diagnóstico , Carcinoma/secundário , Linfonodos/patologia , Biópsia de Linfonodo Sentinela/métodos , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/secundário , Carcinoma/cirurgia , Carcinoma Papilar , Feminino , Humanos , Linfonodos/cirurgia , Metástase Linfática , Linfocintigrafia , Masculino , Pessoa de Meia-Idade , Esvaziamento Cervical , Estadiamento de Neoplasias , Estudos Prospectivos , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To evaluate the degree of dysphagia in patients before and after total laryngectomy using the Performance Status Scale for Head and Neck Cancer Patients (PSS) and to determine the effects of post-operative radiation therapy, neck dissection, and pharyngoesophageal spasm on PSS scores. METHODS: We performed a controlled, prospective study at a tertiary referral university hospital. Twenty consecutive patients undergoing laryngectomy were included. Patients were followed for at least two years post-operative, without evidence of local, regional, or distant disease. Only patients with squamous cell carcinoma limited to the endolarynx requiring total laryngectomy with or without elective neck dissection for surgical management of cancer and with no pre-operative treatment were included. Dysphagia was evaluated by PSS prior to surgery and again two years postoperatively with an emphasis on eating in public and normalcy of diet domains. Video fluoroscopic evaluation of swallowing was performed one year after treatment. RESULTS: The relative number of patients with low mean scores in PSS (i.e. usually swallow paste of fluid food in presence of some selected persons or alone; < or = 50) increased after total laryngectomy (p = 0.04). Patients with lower scores reported more frequent spasm of the pharyngoesophageal segment (p = 0.005). Mean scores of both domains decreased after surgery (p < 0.05). CONCLUSION: Eating in public and normalcy of diet scores decreased in 50% of patients after total laryngectomy.
Assuntos
Carcinoma de Células Escamosas/cirurgia , Transtornos de Deglutição/etiologia , Neoplasias Laríngeas/cirurgia , Laringectomia/efeitos adversos , Qualidade de Vida , Carcinoma de Células Escamosas/patologia , Deglutição , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Seguimentos , Humanos , Neoplasias Laríngeas/patologia , Estadiamento de Neoplasias , Complicações Pós-Operatórias , Estudos Prospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do TratamentoRESUMO
FcγRIIA binding to IgG subclasses with different levels of affinity is influenced by the polymorphism in the gene that encodes this receptor. The substitution of arginine (R) for histidine (H) in the 131 position defines three allelic patterns, H/H, R/R, and H/R, resulting in FcγRIIA-H/H131 affinity for IgG2 and higher affinity for IgG3 subclasses. Studies have shown the importance of genetic host factors in leishmaniasis and participation of FcγRs on the macrophage infection by amastigote forms and in the immune response to Leishmania sp. We analysed the influence of allelic diversity patterns of the receptor FcγRIIA on American tegumentary leishmaniasis (ATL). FcγRIIA-H/R131 polymorphism was determined by PCR followed by an allele-specific enzymatic digestion in 88 individuals with ATL and 98 healthy volunteer blood donors (control group). The genotypic and allelic distributions of FcγRIIA-H/R131 were similar among the studied groups as well in mild and severe clinical forms of ATL. Our results suggest no association between this allelic polymorphism and susceptibility or resistance to ATL, neither influencing the development of different clinical forms of this illness.
Assuntos
Leishmaniose Cutânea/genética , Polimorfismo Genético , Receptores de IgG/genética , Adolescente , Adulto , Idoso , Alelos , Estudos de Casos e Controles , Criança , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Seasonal population fluctuation of the coffee leafminer, Leucoptera coffeella (Guérin-Méneville & Perrottet) (Lepidoptera: Lyonetiidae), led to an investigation of its natural mortality factors during the rainy season when the population level is low and during the dry season when population peaks occur. Life-table data were collected from insecticide-free plots within a 3 ha coffee plantation on the upper, medium and lower canopy. Leafminer mortality was similar among the canopy parts but varied in the two seasons studied. During the rainy season, the generational mortality averaged 94.3%, with 50.2, 33.7 and 10.4% occurring during egg, larval and pupal stages, respectively. During the dry season, total mortality was 89%, with 13.2, 61.0 and 14.8% occurring during egg, larval and pupal stages, respectively. Marginal mortality rates during the rainy season were highest for physiological disturbances, rainfall and egg inviability; but, in the dry season, they were highest for predaceous wasps, physiological disturbances and parasitoids. Egg and larval stages accounted for most of the mortality variation in the rainy season, while the combination of larval and pupal mortality better described the generational mortality in the dry season. Variation in mortality during the rainy season was primarily associated with egg inviability, rainfall and parasitoids. In contrast, predatory wasps and physiological disturbances were the main factors associated with mortality variation during the dry season. These results suggest that weather conditions, natural enemies and plant quality attributes are the main determinants of the population dynamics of L. coffeella.
Assuntos
Estágios do Ciclo de Vida , Mariposas/crescimento & desenvolvimento , Estações do Ano , Animais , Coffea/parasitologia , Tábuas de Vida , Dinâmica PopulacionalRESUMO
Laryngeal Electromyography (LEMG) is a diagnostic test commonly used in patients with vocal fold movement disorder. The aim of this study is to describe LEMG in patients with vocal fold immobility. A total of 55 dysphonic patients with vocal fold immobility diagnosed by laryngeal endoscopy were grouped according to probable clinical cause: 1) unknown; 2) traumatic; or 3) tumoral compression. They were submitted to LEMG by percutaneous insertion of concentric needle electrode. LEMG was conclusive in all patients and showed a majority with peripheral nerve injury. LEMG diagnosed peripheral nerve damage in 25 group 1, 12 group 2, and 11 group 3 patients. LEMG was normal in 4 patients, suggesting cricoarytenoid joint fixation. Central nervous system disorders was suggested in 2 and myopathic pattern in 1. As the major cause of vocal fold immobility is peripheral nerve damage, LEMG is an important test to confirm diagnosis.
Assuntos
Eletromiografia , Paralisia das Pregas Vocais/diagnóstico , Paralisia das Pregas Vocais/fisiopatologia , Adolescente , Adulto , Idoso , Endoscopia , Feminino , Humanos , Nervos Laríngeos/fisiopatologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Nervo Laríngeo Recorrente/fisiopatologiaRESUMO
Quantitative analysis of normal values of motor unit action potentials duration and amplitude of muscles tireoaritenoideus (TA), cricotireoideus (CT), cricoaritenoideus lateralis (CAL), and cricoaritenoideus posterioris (CAP) was performed in 14 adult normal Brazilian volunteers. The recordings were obtained by percutaneously inserted concentric needle electrode. Different motor unit action potentials were manually selected in each muscle for quantitative computerized analysis of duration and amplitude. The mean values for duration and amplitude were respectively 3.8 ms and 413 microV for TA, 4.9 ms and 585 microV for CT 4.1 ms and 388 microV for CAL and 4.5 ms and 475 microV in CAP. There were no similar reports of normal values of motor unit action potentials in Brazilian subjects.
Assuntos
Potenciais de Ação , Músculos Laríngeos/fisiologia , Adolescente , Adulto , Brasil , Vias Eferentes/fisiologia , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de ReferênciaRESUMO
Laryngeal Electromyography (LEMG) is an auxiliary diagnostic method used for the comprehension and diagnosis of different neurological diseases that compromise laryngeal function. The most common LEMG technique is the percutaneous insertion of needle electrodes guided by surface anatomical references. We describe techniques for inserting needle electrodes into the tireoaritenoideus (TA), cricotireoideus (CT), cricoaritenoideus lateralis (CAL) and cricoaritenoideus posterioris (CAP) muscles; these are used at UNICAMP laryngology ambulatory, we discuss difficulties found and their proposed solutions. All patients were submitted to otorhinolaryngological, phonoaudiological and laryngeal endoscopy before LEMG. The CAP approach, by digital rotation of the thyroid cartilage was found to be the most difficult, followed by the CAL approach. TA and CT approaches gave no major problems, except with some older and obese patients. A significant complication of the TA approach via thyroid cartilage was a hematoma in one patient which partially obstructed the laryngeal lumen.
Assuntos
Eletromiografia/métodos , Músculos Laríngeos/fisiopatologia , Adolescente , Adulto , Idoso , Eletrodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Agulhas , Distúrbios da Voz/fisiopatologiaRESUMO
The childhood is one of the most propitious period of the life to the occurrence of infection by yeasts of the genus Candida. In children with Down's syndrome, besides the predispose factors to bucal candidiasis; macroglossia, bucal muscular incompetence, frequent respiratory diseases, motor difficulty and immunologic deficit are mentioned as additional elements for this fungus disease. It was verified that the children attacked by this syndrome have much more strains of Candida than other children. The aim of this study was to detect the prevalence of phospholipase producer, Candida on the saliva of children with Down's syndrome. Candida albicans was the only identified specie of Candida. The phospholipase production was found in isolated strains from both of study and control. However, the isolated strains of the group of children with Down's syndrome have strongly present phospholipidolitic.