RESUMEN
AIM: To investigate glucose and insulin metabolism in participants with ataxia telangiectasia in the absence of a diagnosis of diabetes. METHODS: A standard oral glucose tolerance test was performed in participants with ataxia telangiectasia (n = 10) and in a control cohort (n = 10). Serial glucose and insulin measurements were taken to permit cohort comparisons of glucose-insulin homeostasis and indices of insulin secretion and sensitivity. RESULTS: During the oral glucose tolerance test, the 2-h glucose (6.75 vs 4.93 mmol/l; P = 0.029), insulin concentrations (285.6 vs 148.5 pmol/l; P = 0.043), incremental area under the curve for glucose (314 vs 161 mmol/l/min; P = 0.036) and incremental area under the curve for insulin (37,720 vs 18,080 pmol/l/min; P = 0.03) were higher in participants with ataxia telangiectasia than in the controls. There were no significant differences between groups in fasting glucose, insulin concentrations or insulinogenic index measurement (0.94 vs 0.95; P = 0.95). The Matsuda index, reflecting whole-body insulin sensitivity, was lower in participants with ataxia telangiectasia (5.96 vs 11.03; P = 0.019) than in control subjects. CONCLUSIONS: Mutations in Ataxia Telangiectasia Mutated (ATM) that cause ataxia telangiectasia are associated with elevated glycaemia and low insulin sensitivity in participants without diabetes. This indicates a role of ATM in glucose and insulin metabolic pathways.
Asunto(s)
Proteínas de la Ataxia Telangiectasia Mutada/genética , Genes Recesivos , Trastornos del Metabolismo de la Glucosa/genética , Resistencia a la Insulina/genética , Metformina/uso terapéutico , Adulto , Biomarcadores Farmacológicos , Glucemia/genética , Estudios de Casos y Controles , Femenino , Genes Relacionados con las Neoplasias , Sitios Genéticos/efectos de los fármacos , Prueba de Tolerancia a la Glucosa , Humanos , Masculino , Redes y Vías Metabólicas/genética , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVE: To investigate the possibility that response to cholinesterase inhibitor therapy could be predicted by easily measurable variables that are known to change as a result of treatment (such as the Mini Mental State Examination), measures of function (such as the instrumental activities of daily living and the social behaviour subscales of the Nurse's Observation Scale for Geriatric Patients), and measures of attention (such as the Digit Symbol Substitution Test; DSST), or that might influence response through structural (for example, age, cerebrovascular disease, medial temporal lobe (MTL) atrophy, hypertension) or chemical (for example, smoking) mechanisms. METHOD: This was a cohort study of 160 consecutive outpatients with probable Alzheimer's disease who commenced cholinesterase inhibitor treatment over a 3 year period in a semi-rural area of Scotland. RESULTS: The overall response rate was 42.1%. Stratification of response between good and poor responders was possible using baseline DSST and a measure of MTL thickness using CT. Among the patients, 60.4% of those above the cut off point for both DSST and MTL thickness (29/48 subjects) were classified as good responders, compared with 6.3% of subjects below the cut off point for both (1/16 subjects). Subjects above the cut off point for both measures were more likely to be classified as good responders than subjects with only one or no values above the respective cut off points (chi(2) = 10.61, df = 1, p = 0.001) CONCLUSIONS: The DSST and a measure of MTL thickness derived from CT scanning may be useful in improving the prediction of response to cholinesterase inhibitors in subjects with AD. Subjects with low DSST scores and more severe MTL atrophy are unlikely to respond to treatment. These preliminary data justify a prospective trial of the usefulness of our suggested predictive measures.
Asunto(s)
Enfermedad de Alzheimer/tratamiento farmacológico , Inhibidores de la Colinesterasa/farmacología , Inhibidores de la Colinesterasa/uso terapéutico , Escala del Estado Mental , Actividades Cotidianas , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/psicología , Estudios de Cohortes , Femenino , Evaluación Geriátrica , Humanos , Masculino , Evaluación en Enfermería , Valor Predictivo de las Pruebas , Pronóstico , Factores de Riesgo , Resultado del TratamientoRESUMEN
Successful clinical governance can only occur if staff, managers and commissioners are prepared to accept that traditional solutions are not necessarily the most appropriate. Accurate assessment of clinical risk and the development of strong and effective clinical teams with clear leadership, multidisciplinary appraisal and clearly defined implementation plans will help to shape good practice.
Asunto(s)
Atención a la Salud/normas , Servicios de Salud Mental , Calidad de la Atención de Salud/normas , Guías como Asunto , Humanos , Auditoría Médica , Medición de Riesgo , Gestión de Riesgos , Medicina Estatal , Reino UnidoRESUMEN
An 81-year-old G2 P2 white female in good health with the exception of well-controlled hypertension presented to her family physician with a newly discovered lesion in the skin of the abdominal left lower quadrant. Initially, this nodule was viewed as innocuous and was followed with the expectation that it would soon resolve. Three months later, the lesion was biopsied, revealing a pattern consistent with papillary serous carcinoma from a presumed ovarian primary. CT scan revealed a pelvic mass. Subsequent laparotomy revealed a benign tubal cystadenofibroma, but otherwise normal pelvic viscera. Additional findings, however, included multiple small parietal peritoneal nodules histopathologically diagnosed as extraovarian peritoneal serous papillary carcinoma similar to the skin lesion. All gross disease was extirpated. The patient received chemotherapy as for advanced ovarian cancer.
Asunto(s)
Cistadenocarcinoma Papilar/diagnóstico , Cistadenocarcinoma Papilar/secundario , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/patología , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/secundario , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Estadificación de NeoplasiasRESUMEN
BACKGROUND: Stereotaxic core breast biopsy (SCBB) has been proposed as a cost-effective and reliable method of evaluating mammographic lesions. This study evaluates an initial experience with SCBB and assesses the adequacy of the biopsy specimens obtained. METHODS: Two hundred forty-one SCBB were performed on 221 patients during 13 months by four radiologists. Mammograms were assigned a suspicion index on a scale of 1 to 5. One pathologist performed a blinded retrospective review of all SCBB specimens and assigned an adequacy score based on the quality and amount of the tissue present. RESULTS: The majority of SCBB were ordered by general surgeons (67%). A suspicion index score of 3 was assigned to 74% of lesion specimens. Twelve percent of specimens were malignant. Overall SCBB adequacy (score > or = 2) was 77%. Adequacy was present in 74% of benign biopsy specimens as compared with 100% of malignant specimens (p < 0.005). Only 62% of specimens reported as benign without specific features were adequate. There were no differences in adequacy between individual radiologists or during the study period. CONCLUSIONS: SCBB is largely used by surgeons to assess indeterminate mammographic lesions. One of four benign specimens was inadequate. Benign SCBB specimens must be interpreted with caution.
Asunto(s)
Mama/patología , Técnicas Estereotáxicas , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Neoplasias de la Mama/diagnóstico , Femenino , Humanos , Mamografía , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Traumatic eyelid avulsion is reported infrequently. We cared for an 18-year-old man who lost > 75% of his right upper eyelid. The tissue was recovered 10 h following the initial trauma. Successful surgical reimplantation resulted in a functional upper eyelid with extensive madarosis. An experimental study was undertaken to attempt to determine the optimal method for preservation of avulsed eyelid tissue. Experimental surgery was performed to simulate repair of eyelid avulsion. The postoperative changes in experimentally reimplanted eyelids parallel those noted in the clinical example of eyelid avulsion. This clinical example and experimental study suggested the following management principles for handling avulsed eyelid tissue: eyelid tissues should not be immersed in saline; avulsed eyelid tissues should be stored at 4 degrees C; if reimplantation time is < 6 h, storage in a cold moist environment is adequate.
Asunto(s)
Lesiones Oculares/cirugía , Párpados/lesiones , Párpados/cirugía , Reimplantación , Adolescente , Animales , Criopreservación , Lesiones Oculares/patología , Párpados/patología , Humanos , Masculino , Conejos , Conservación de Tejido/métodosRESUMEN
Psammoma bodies are concentric, laminated structures produced by cross-sectioning the tips of calcified papillary formations and are usually associated with papillary carcinoma of the thyroid gland, meningiomas and serous papillary tumors of the ovary. These structures have occasionally been seen in cytologic smears obtained from women with endometrial or ovarian carcinoma. A woman had Papanicolaou smears that continued to show psammoma bodies for over two years, eventually leading to a hysterectomy. Even though the presence of psammoma bodies on a Papanicolaou smear should always alert the physician to the possibility of ovarian carcinoma, leading to a thorough search for this malignancy, a variety of benign conditions, such as endosalpingiosis, may also be associated with this finding.
Asunto(s)
Cuello del Útero/patología , Endometriosis/complicaciones , Prueba de Papanicolaou , Enfermedades del Cuello del Útero/diagnóstico , Frotis Vaginal , Adulto , Antígenos de Carbohidratos Asociados a Tumores/sangre , Reacciones Falso Positivas , Femenino , Humanos , Enfermedades del Cuello del Útero/cirugíaRESUMEN
Venous disease of the orbit is a rare occurrence which can become manifest in a variety of ways including an arteriovenous aneurysm or fistula, a cavernous sinus or superior ophthalmic vein thrombosis, and an orbital varix, with and without thrombosis. Three patients had proptosis due to orbital varix thrombosis. The onset, degree of pain, and presence of diplopia were all variable. In two of three patients, computed tomographic (CT) scans showed lesions reminiscent of cavernous hemangiomas. The clinical, radiographic, surgical, and histopathologic features of this entity are described and discussed and a hypothesis is proposed to explain the pathophysiology of orbital varix thrombosis.
Asunto(s)
Órbita/irrigación sanguínea , Trombosis/diagnóstico , Várices/diagnóstico , Adulto , Anciano , Coagulación Sanguínea , Diplopía/etiología , Exoftalmia/etiología , Humanos , Masculino , Persona de Mediana Edad , Órbita/cirugía , Trombosis/etiología , Trombosis/cirugía , Tomografía Computarizada por Rayos X , Ultrasonografía , Várices/complicaciones , Várices/cirugíaRESUMEN
A 35-year-old man had a primary neuroblastoma of the left orbit. Histopathologically, the tumor was composed of uniform small round cells containing argyrophilic granules arranged in nests and cords with pseudorosettes, Homer-Wright rosettes, and a fine fibrillary background matrix. Immunohistochemical staining for chromogranin was positive. Electron microscopy showed small (108- to 173-nm) dense core granules. Eight years after surgery and radiation therapy the patient was free of local recurrence and metastases. To our knowledge, primary orbital neuroblastoma has been reported only once previously. Neuroblastoma, which occurs most frequently in children and has an incidence in the United States of 500 cases annually, is a distinctly unusual tumor in adults.
Asunto(s)
Neuroblastoma , Neoplasias Orbitales , Adulto , Gránulos Citoplasmáticos/ultraestructura , Humanos , Masculino , Neuroblastoma/patología , Neuroblastoma/ultraestructura , Neoplasias Orbitales/patología , Neoplasias Orbitales/ultraestructuraAsunto(s)
Accidentes de Tránsito , Homicidio , Síndrome de Munchausen/psicología , Adulto , Humanos , MasculinoRESUMEN
Three patients have been described with a thrombosed orbital varix. The clinical, imaging, surgical, and pathologic features of this disorder are described. A pathophysiologic mechanism has been proposed and this entity has been placed in the spectrum of orbital vascular lesions. Recommendations for the diagnostic evaluation and management of patients with thrombosed orbital varices have been offered.
Asunto(s)
Órbita/irrigación sanguínea , Trombosis/complicaciones , Venas , Adulto , Anciano , Coagulación Sanguínea , Diplopía/etiología , Exoftalmia/etiología , Humanos , Masculino , Persona de Mediana Edad , Trombosis/diagnóstico , Trombosis/patología , Trombosis/cirugía , Tomografía Computarizada por Rayos X , Ultrasonografía , Agudeza VisualRESUMEN
Necrobiotic xanthogranuloma with paraproteinemia is a clinical and histopathological entity characterized by xanthelasma-like lesions in the periorbital region and elsewhere, paraproteinemia, leukopenia, and an elevated erythrocyte sedimentation rate. Multiple myeloma has been reported as an accompanying feature in several cases. We examined a patient with necrobiotic xanthogranuloma and multiple myeloma in whom an IgG kappa monoclonal protein was identified in serum, urine, bone marrow, and bilateral periorbital lesions. We speculate that increased serum immunoglobulins complexed with lipid may be deposited in the skin, leading to a foreign body giant cell reaction and the subsequent characteristic histopathologic features of necrobiotic xanthogranuloma.
Asunto(s)
Granuloma/complicaciones , Enfermedades Orbitales/complicaciones , Paraproteinemias/complicaciones , Xantomatosis/complicaciones , Femenino , Granuloma/etiología , Granuloma/patología , Humanos , Inmunoglobulina G/metabolismo , Cadenas kappa de Inmunoglobulina/metabolismo , Microscopía Electrónica , Persona de Mediana Edad , Mieloma Múltiple/complicaciones , Mieloma Múltiple/patología , Enfermedades Orbitales/etiología , Enfermedades Orbitales/patología , Neoplasias Orbitales/complicaciones , Neoplasias Orbitales/patología , Paraproteinemias/etiología , Xantomatosis/etiología , Xantomatosis/patologíaAsunto(s)
Granuloma/inmunología , Inmunoglobulina G/análisis , Cadenas kappa de Inmunoglobulina/análisis , Mieloma Múltiple/inmunología , Xantomatosis/inmunología , Enfermedades de los Párpados/inmunología , Femenino , Granuloma/complicaciones , Humanos , Persona de Mediana Edad , Mieloma Múltiple/complicaciones , Enfermedades Orbitales/inmunología , Xantomatosis/complicacionesRESUMEN
A review of the pathologic material from patients in our population based uterine cancer registry in Louisville, Kentucky identified three subtypes of endometrial carcinoma with a favorable prognosis: adenoacanthoma, adenocarcinoma with no specific features, and secretory carcinoma. Three subtypes with a much less favorable prognosis were papillary carcinoma, mixed adenosquamous carcinoma, and clear cell carcinoma. The other important determinants of treatment results were: stage of disease, age, race, nuclear grade, and depth of myometrial invasion. This study evaluated these prognostic determinants for the favorable subtypes with Stage 1 disease that were fully treated. There were 595 patient eligible for five-year and 380 for ten-year vital status evaluation. Only three patients were lost to follow-up at five years and four at ten years. The five-year survival was 88.1% and the ten-year 74.5%. At five years 4.4% were dead of disease and at ten years 6.3%. There were 115 women younger than age 50. Their five-year survival was 98.3% and at ten years 94.6%. None was dead of disease at five years and only one at ten years. Black women had a significantly lower survival than did white women, but no black woman younger than age 50 died of disease. Nuclear grade was the most important histologic determinant of survival, followed by depth of myometrial invasion. Recommendations for treatment planning were formulated based on these prognosticators.
Asunto(s)
Neoplasias Uterinas/patología , Adenocarcinoma/patología , Factores de Edad , Carcinoma Papilar/patología , Carcinoma de Células Escamosas/patología , Femenino , Humanos , Kentucky , Persona de Mediana Edad , Miometrio/patología , Estadificación de Neoplasias , Pronóstico , Grupos Raciales , Sistema de Registros , Neoplasias Uterinas/radioterapia , Neoplasias Uterinas/cirugíaRESUMEN
In a histologic review of 989 cases of invasive endometrial carcinomas there were 68 mixed adenosquamous carcinomas. Sixty were followed for at least five years, or until death. The other eight were diagnosed in 1976 and were ineligible for five-year status evaluation. Twenty-eight of the 60 patients or 46.7% were alive at five years. Twenty-five or 41.7% died of their cancer. Stage of disease, depth of myometrial invasion, vascular invasion, age, and method of treatment all had an impact on end results. By comparison, the absolute five-year survival rate for 200 women with adenocanthoma was 87.0%. Thirty patients with atypia of the squamous portion of the adenoacanthoma had an identical survival rate as those without atypia. Combined irradiation and hysterectomy end results were superior to hysterectomy only, or to radiation therapy only. Although one examination of time trends revealed a significant increase in the percentage of all tumors that were diagnosed as adenoacanthoma, there was no increase in the relative frequency of mixed adenosquamous carcinoma.
Asunto(s)
Adenocarcinoma/patología , Carcinoma de Células Escamosas/patología , Neoplasias Uterinas/patología , Adenocarcinoma/diagnóstico , Adulto , Anciano , Carcinoma de Células Escamosas/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/mortalidadRESUMEN
Eight hundred sixty-five patients with confirmed adenocarcinoma of the endometrium were studied. Eight hundred eleven were followed up for at least 5 years or until death, and 537 were followed up for 10 years. The survival rate was 77.1% at 5 years and 61.0% at 10 years. Age at diagnosis was the single most important clinical determinant of survival. Tumor grade was an important predictor of the course of disease, and nuclear grade was a significantly more accurate indicator than was histologic grade. Stage and depth of invasion were also important predictors of survival. The 5-year survival rate for black women was only 41.9%. Stage for stage and grade for grade, women undergoing hysterectomy alone and with radiation had similar survival rates. Adenoacanthoma had a better prognosis that did adenocarcinoma without squamous metaplasia; there were no deaths at 5 to 10 years in women diagnosed before age 50. The subtype of carcinoma was found to be a highly significant predictor of prognosis.
Asunto(s)
Adenocarcinoma/mortalidad , Neoplasias Uterinas/mortalidad , Adenocarcinoma/patología , Adenocarcinoma/terapia , Adulto , Factores de Edad , Anciano , Etnicidad , Femenino , Humanos , Kentucky , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Neoplasias Uterinas/patología , Neoplasias Uterinas/terapiaRESUMEN
Forty-six patients with papillary carcinoma of the endometrium were studied. Forty-five were followed for at least five years or until death, and 41 were followed for 10 years. The remaining patient was alive at four years. The survival rate was 51.1% at five years and 46.3% at 10 years. At five years one-third had died of their disease. The median age at time of diagnosis was 63 years, and the age at diagnosis was an important determinant of survival. None of the seven black women survived for five years. Tumor grade was an important predictor of the course of disease and nuclear grading was a significantly more accurate indicator than was the histologic grading of the World Health Organization. Papillary carcinoma should be distinguished from the papillary type of clear cell carcinoma of the endometrium. While it has a somewhat better prognosis than mixed adenosquamous carcinoma or clear cell carcinoma, it appears to be more aggressive with a lower survival rate and higher rate of death from disease than the usual type of endometrial adenocarcinoma or adenoacanthoma.
Asunto(s)
Adenocarcinoma Papilar/patología , Neoplasias Uterinas/patología , Adenocarcinoma Papilar/mortalidad , Adenocarcinoma Papilar/terapia , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Neoplasias Uterinas/mortalidad , Neoplasias Uterinas/terapiaRESUMEN
A variant of mixed adenosquamous carcinoma of the endometrium was encountered in 5 of 68 patients (7.4 per cent) with mixed adenosquamous carcinomas of the endometrium. A sixty patient had an isolated area of glassy cell carcinoma in an otherwise typical adenosquamous carcinoma. The ground-glass appearance of the cytoplasm, the distinctive nucleus with prominent nucleoli, the numerous mitoses, and the similarity of this tumor to previously described glassy cell cervix cancers all suggest that the tumor is glassy cell carcinoma. Four of the five tumors behaved in an aggressive manner.
Asunto(s)
Carcinoma/patología , Endometrio/patología , Neoplasias Uterinas/patología , Anciano , Carcinoma/radioterapia , Núcleo Celular/patología , Citoplasma/patología , Epitelio/patología , Femenino , Humanos , Persona de Mediana Edad , Mitosis , Estadificación de Neoplasias , Neoplasias Uterinas/radioterapiaRESUMEN
In a pathologic review of 1224 cases of endometrial carcinoma, 1023 were confirmed cases of endometrial carcinoma. Fifty-six (5.5%) were clear-cell adenocarcinoma (CCE). Fifteen cases of "secretory carcinoma" (SCE) were examined for comparison. Fifty-five patients with CCE and all with SCE were followed for at least five years or until death. There were only 19 survivors among those with CCE. No five-year survivor subsequently died of disease. Of the 15 patients with SCE, 13 survived for five years although two additional patients died of recurrent disease at 5.4 and seven years. All survivors of CCE were Stage I patients at the time of diagnosis. All were postmenopausal, and had a median age of 67 years compared with 58 years for patients with SCE. Unlike SCE, the morphology of CCE was preserved in the subsequent hysterectomy specimen, in the recurrent disease, and in the metastases. CCE was proportionately more common in black women and the five-year survival was 12.5% as compared with 39.1% for white women. In contrast to endometrial carcinoma in general, most women who failed treatment died of disease. There was no increase in the relative frequency over the 23-year time period of the study. Age at time of diagnosis seemed to be an important prognosticator. Prognosis also correlated well with stage of disease and depth of myometrial invasion. It correlated to a somewhat lesser extent with the method of treatment and had a poor correlation with the histologic pattern or degree of cellular differentiation: however, essentially all tumors were considered to be poorly differentiated. Finally, a histologic tissue marker in the form of hyalin-like, PAS-positive, diastase-resistant bodies was found in the 64% of the women with CCE.