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1.
Clin Genet ; 91(6): 824-831, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27740685

RESUMEN

Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine-adenine-guanine ( CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had not been previously tested for HD and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol. Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded CAG repeat length. In the CAG expanded group, those choosing to be tested were older and had more chorea and higher scores on the behavioral section of the unified Huntington's disease rating scale at baseline than those not choosing to be tested. Following genetic testing, 56% of subjects with CAG < 37 had less depression when compared to prior to testing, but depression generally stayed the same or increased for 64% of subjects in the expanded group. This finding suggests that approaches to testing must continue to be cautious, with appropriate medical, psychological and social support.


Asunto(s)
Predisposición Genética a la Enfermedad , Pruebas Genéticas , Proteína Huntingtina/genética , Enfermedad de Huntington/genética , Adulto , Femenino , Genotipo , Humanos , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/patología , Masculino , Persona de Mediana Edad , Factores de Riesgo , Expansión de Repetición de Trinucleótido/genética , Repeticiones de Trinucleótidos/genética
2.
Neurology ; 66(9): 1427-9, 2006 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-16682679

RESUMEN

The authors examined age effects on adverse events from two randomized, controlled trials of rasagiline, comparing younger (younger than 70 years) and older (70 years and older) subjects. Older patients were more prone to serious adverse effects than younger patients, but there was no statistical interaction between age and rasagiline exposure. This absence of an age-rasagiline interaction suggests that rasagiline does not require special safety precautions for elderly subjects with Parkinson disease.


Asunto(s)
Antiparkinsonianos/efectos adversos , Confusión/inducido químicamente , Trastornos de Somnolencia Excesiva/inducido químicamente , Hipotensión Ortostática/inducido químicamente , Indanos/efectos adversos , Inhibidores de la Monoaminooxidasa/efectos adversos , Enfermedad de Parkinson/tratamiento farmacológico , Factores de Edad , Anciano , Anciano de 80 o más Años , Antiparkinsonianos/administración & dosificación , Antiparkinsonianos/uso terapéutico , Confusión/epidemiología , Trastornos de Somnolencia Excesiva/epidemiología , Agonistas de Dopamina/administración & dosificación , Agonistas de Dopamina/efectos adversos , Agonistas de Dopamina/uso terapéutico , Método Doble Ciego , Femenino , Alucinaciones/inducido químicamente , Alucinaciones/epidemiología , Humanos , Hipotensión Ortostática/epidemiología , Incidencia , Indanos/administración & dosificación , Indanos/uso terapéutico , Levodopa/administración & dosificación , Levodopa/efectos adversos , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Inhibidores de la Monoaminooxidasa/uso terapéutico , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos
3.
Clin Pediatr (Phila) ; 40(6): 333-6, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11824176

RESUMEN

This study was undertaken to determine the upper limit of normal ear temperatures, defined as the 95th percentile for infants, children, and adolescents, using the arterial heat balance method for measuring ear temperatures. Ear temperatures were measured in 62 infants, 0-2 months of age; 346 children, 3-47 months; 226 children, 48-119 months; and 172 adolescents, 120-227 months using the LighTouch Pedi-Q (Exergen Corp, Watertown, MA) ear thermometer. The 95th percentiles for the four age groups were 100.1 degrees F (37.8 degrees C), 100.3 degrees F (37.9 degrees C), 99.8 degrees F (37.7 degrees C), and 99.8 degrees F (37.7 degrees C), respectively. Temperatures above 100.0 degrees F (37.8 degrees C) using the LighTouch Pedi-Q ear thermometer should be considered elevated.


Asunto(s)
Temperatura Corporal , Oído Medio , Termómetros , Adolescente , Niño , Preescolar , Femenino , Fiebre/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , Valores de Referencia , Sensibilidad y Especificidad , Termómetros/normas
4.
Clin Pediatr (Phila) ; 38(8): 463-6, 1999 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-10456241

RESUMEN

The purpose of this study was to compare arterial heat balance ear temperature measurements to rectal temperatures in infants and children and to determine the ability of the ear thermometer being tested to detect fever. From 12/95 to 2/96, 1,175 pairs of ear and rectal temperature measurements were prospectively obtained from 140 infants and toddlers. The mean rectal temperature was 37.58 degrees C (sd = 0.68) and the mean ear temperature was 37.60 degrees C (sd = 0.85). However, at the low end of the rectal temperature scale, ear temperatures tended to be higher, and at the high end of the rectal temperature scale, ear temperatures tended to be lower. There were 292 readings with a rectal temperature > or = 38.0 degrees C and in 204 (70%) the ear temperature was also > or = 38.0 degrees C. A retrospective analysis of 53 children who became febrile in hospital (ear or rectal temperature > or = 38.0 degrees C) showed that fever was detected first by rectal measurement in seven, by ear measurement in 31 (59%), and by both in 15 (28%). These data indicate that, on the average, rectal and ear temperature measurements are not different. Fever that developed in children after hospitalization was more likely to be first detected by ear than by rectal measurement.


Asunto(s)
Temperatura Corporal , Niño Hospitalizado , Fiebre/diagnóstico , Preescolar , Oído , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Recto
5.
Support Care Cancer ; 7(3): 140-8, 1999 May.
Artículo en Inglés | MEDLINE | ID: mdl-10335932

RESUMEN

Normative data and trends for a disease- and site-specific quality of life (QL) instrument for individuals with lung cancer, the Lung Cancer Symptom Scale (LCSS), are presented to facilitate the user's interpretation of test scores. Data for patients enrolled in two large, identical, randomized trials of a new combination chemotherapy regimen for patients with stages III and IV non-small-cell lung cancer (NSCLC) were combined into one dataset (n = 673). For these patients with a Karnofsky performance status (KPS) of 60-100%, QL had been prospectively measured at baseline, day 29 and every 6 weeks thereafter. Descriptive statistics for the LCSS are presented for three time points (baseline, day 29 and day 71) and for specific demographic and disease-related characteristics (age, gender, race, performance status and stage of disease) to provide expected values and their variability during chemotherapy. Data from a small dataset of 63 NSCLC inpatients with KPS scores of 20-50% are also presented for a comparison sample of supportive care for inpatients and hospice patients. For the 673 NSCLC patients at baseline there were no significant differences in QL by age, gender, or race. Major presenting lung cancer symptoms at baseline for this combined sample were dyspnea 87%, cough 86%, pain 81%, loss of appetite 75%, and hemoptysis 41%. Of these patients, 81% had three or more presenting symptoms at baseline (2% had no symptoms; 5%, one symptom; 12%, two symptoms; 18%, three symptoms; 27%, four symptoms; and 36%, five symptoms). The mean LCSS baseline score (best = 0; worst = 100) was 26.56 (SD 16.10). The mean scores for day 29 and day 71 were 25.46 (SD 16.52) and 25.30 (SD 16.93), respectively, but follow-up assessments on progressers were not obtained. Stage III patients had a mean LCSS score of 23.7 (SD 15.1), whereas stage IV patients reported a mean LCSS score of 27.3 (SD 16.3). The mean LCSS score for the group with KPS 60-70% was 34.8 (SD 15.5), and that for the group with KPS 80-100% was 23.3 (SD 15.1). The mean LCSS score for the lower performance group, with KPS scores of 20-50% at baseline, was 46.85 (SD 17.65).


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/psicología , Neoplasias Pulmonares/psicología , Calidad de Vida , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dolor , Pronóstico , Escalas de Valoración Psiquiátrica/normas , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Valores de Referencia , Sensibilidad y Especificidad
6.
Arch Fam Med ; 8(1): 13-7, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-9932066

RESUMEN

OBJECTIVE: To measure long-term provider (physicians and physician's assistants) health maintenance compliance 4 years after the completion of a grant-funded project to improve provider compliance by using a computer-based health maintenance tracking system. DESIGN: Cross-sectional comparison of provider health maintenance compliance for patients receiving computer-based health maintenance tracking in 1992 and 1996. SETTING: Rural, multiple-office, nonprofit, fee-for-service family practice. MAIN OUTCOME MEASURES: Overall provider compliance with the common elements of the health maintenance protocols in 1992 and 1996. Provider compliance with specific, individual preventive interventions was compared. RESULTS: Overall provider compliance was 83% in 1996, compared with 80% in 1992. This difference was statistically significant (P = .05) but not clinically significant. Provider compliance was significantly higher in 1996 for 3 procedures: blood pressure determination, tetanus-diphtheria immunization, and weight. It was unchanged for 5 procedures: clinical breast examination, mammography, Papanicolaou smears, cholesterol determination, and fecal occult blood testing for colon cancer. Provider compliance with obtaining a history of tobacco use declined. CONCLUSION: Improvements in provider health maintenance compliance associated with installation of a computer-based health maintenance tracking system were maintained 4 years after cessation of the formal research intervention.


Asunto(s)
Medicina Familiar y Comunitaria/estadística & datos numéricos , Sistemas de Información Administrativa , Servicios Preventivos de Salud/estadística & datos numéricos , Apoyo a la Investigación como Asunto , Estudios Transversales , Medicina Familiar y Comunitaria/economía , Planes de Aranceles por Servicios , Femenino , Conductas Relacionadas con la Salud , Humanos , Masculino , New York , Servicios Preventivos de Salud/economía , Población Rural
7.
J Am Board Fam Pract ; 11(5): 341-6, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9796763

RESUMEN

BACKGROUND: Patients with severe developmental disabilities often have concurrent decreased neuromuscular tone of the gastrointestinal tract, which can lead to a weak gag reflex, esophageal reflux, aspiration, and severe intractable constipation. High doses of multiple laxatives are frequently needed to maintain bowel motility in these patients. Colchicine, a natural alkaloid that is primarily used for the treatment of acute attacks of gout, causes an increase in gastrointestinal motility by neurogenic stimulation. The purpose of this study was to determine whether daily colchicine administration can improve bowel function and reduce laxative use in profoundly disabled patients with severe, intractable constipation who currently require large doses of multiple laxatives. METHODS: Twelve developmentally disabled patients who required three or more different laxatives to manage their chronic constipation were selected to participate in a double-blind, crossover study. Eleven patients who completed the study received placebo treatment for 8 weeks and colchicine treatment for 8 weeks. The total number of bowel movements and the total number of laxatives used during each of the two 8-week periods were compared. RESULTS: Eight of 11 patients experienced an improved bowel pattern while on colchicine compared with placebo, as defined by an increase in total number of bowel movements or a decrease in total number of rectal laxatives used. No clinically important complications were related to use of colchicine. CONCLUSIONS: Colchicine appears to be a valuable adjunct in the management of severe intractable constipation. Larger, long-term studies are needed to confirm these preliminary results.


Asunto(s)
Colchicina/uso terapéutico , Estreñimiento/tratamiento farmacológico , Discapacidades del Desarrollo/complicaciones , Personas con Discapacidad , Fármacos Gastrointestinales/uso terapéutico , Adulto , Enfermedad Crónica , Estreñimiento/complicaciones , Estudios Cruzados , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
8.
Lung Cancer ; 18(2): 119-36, 1997 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-9316004

RESUMEN

Despite the availability of several instruments to evaluate quality of life (QL) over time in patients with lung cancer, barriers in measurement remain. This methodological study used LCSS data (Lung Cancer Symptom Scale, a disease- and site-specific QL measure) to examine analysis methods to quantify QL where data needed for serial evaluation may be missing. Data from two large randomized trials, conducted at 30 centers, of a new combination chemotherapy regimen incorporating a new agent for patients (n = 673) with Stage III and IV non-small cell lung cancer were obtained for this study. QL had been prospectively measured at baseline, day 29, and every six weeks thereafter using the LCSS. For the slope analysis (SA) and area under the curve (AUC) analyses, an adjustment score of zero was used to indicate QL on the day of death (mortality adjustment) and each subsequent day until the end of the assessment period. Significant differences in QL, symptom scores and known prognostic factors at baseline were found in the attrition group. SA and AUC analysis allowed inclusion of 581 patients, giving an adequacy rate of 86%. By using a mortality adjustment, an additional 45 patients were included, increasing the inclusion rate to 93%. With the use of the mortality adjustment, QL was shown to decline over the interval, as opposed to rise if the adjustment had not been performed. The conclusions of the study were: (1) analysis for serial data using SA and AUC provides useful, but differing information; (2) when attrition (caused by death) is a factor, a mortality adjustment presented a more accurate assessment of QL as an endpoint; (3) more frequent evaluations of QL will capture rapid changes in patient status and reduce the attrition bias; (4) all patients should be followed until they die; and (5) QL should be given full consideration as a primary endpoint separate from survival.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/psicología , Neoplasias Pulmonares/psicología , Mortalidad , Calidad de Vida , Anciano , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Femenino , Humanos , Neoplasias Pulmonares/mortalidad , Masculino , Persona de Mediana Edad , Estudios Prospectivos
9.
Bone Marrow Transplant ; 15(4): 523-30, 1995 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-7655376

RESUMEN

To evaluate the safety and efficacy of marrow transplantation for older adults, the regimen-related mortality and event-free survival for patients > or = 40 years were compared with those for patients < 40 years. Of 148 consecutive patients receiving autotransplants for lymphoma or Hodgkin's disease, 70 were < 40 years and 78 were > or = 40 years at the time of transplant, including 40 who were > or = 50 years and 12 who were > or = 60 years. Eleven patients (16%) in the younger age group died from transplant-related complications compared with 4 (5%) in the older age group. The 4-year actuarial event-free survivals (EFS) for the younger and older age groups were 43% and 48%, respectively. After adjustment for covariates with prognostic significance, older age was marginally associated with improved event-free survival (P = 0.08). Of 92 consecutive patients undergoing allogeneic BMT during the same period, 62 patients were < 40 years and 30 patients were > or = 40 years, including 8 patients > or = 50 years, and 1 patient > 60 years. Non-relapse mortality (including deaths from GVHD) occurred in 28 of the younger patients (45%) and 9 of the older patients (30%). The 3-year actuarial EFS for the younger patients was 26% vs. 56% for the patients > or = 40 years (P = 0.057). However, this difference was mainly due to the higher proportion of patients with CML and early-stage leukemia in the older age group.(ABSTRACT TRUNCATED AT 250 WORDS)


Asunto(s)
Trasplante de Médula Ósea , Enfermedad de Hodgkin/terapia , Linfoma no Hodgkin/terapia , Adolescente , Adulto , Factores de Edad , Anciano , Niño , Supervivencia sin Enfermedad , Femenino , Enfermedad de Hodgkin/mortalidad , Humanos , Linfoma no Hodgkin/mortalidad , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tasa de Supervivencia , Trasplante Autólogo , Trasplante Homólogo
10.
Arch Fam Med ; 3(7): 581-8, 1994 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-7921293

RESUMEN

OBJECTIVE: To compare computer-based with manual health maintenance tracking systems to determine whether (1) a computer-based system will result in better provider compliance with the practice health maintenance protocol, (2) the incremental cost of operating a computer-based vs a manual health maintenance tracking system differs, and (3) inactive patients will respond to health maintenance reminders. DESIGN: Two-year prospective, randomized, controlled trial. SETTING: Rural, multiple-office, nonprofit, fee-for-service family practice. PATIENTS: Adult members of families in which at least one member had been seen by the practice within the past 2 years. INTERVENTION: A computer-based health maintenance tracking system that generated annual provider and patient reminders for all patients regardless of appointment status compared with a manual flowchart-based tracking system in which patient reminders were triggered by provider request. OUTCOME MEASURES: Provider compliance with the health maintenance protocol determined by preintervention and postintervention chart audits, costs of computer-based tracking, and response of inactive patients to health maintenance reminders. RESULTS: Overall provider compliance with the health maintenance protocol increased 15 percentage points in the computer-based tracking group and four percentage points in the manual group. The computer-based tracking group had significantly higher provider compliance than the manual group for eight of 11 procedures. The computer-based tracking system cost 78 cents per patient per year to operate. It was not associated with increased office visits or patient billings. CONCLUSIONS: Computer-based health maintenance tracking improved provider health maintenance compliance compared with a manual system. The finding that health maintenance compliance improved without a significant increase in patient visits or billings requires confirmation in other settings but suggests that considerable health maintenance can be incorporated into ongoing patient care.


Asunto(s)
Sistemas de Información en Atención Ambulatoria/normas , Servicios Preventivos de Salud/organización & administración , Sistemas Recordatorios/normas , Adulto , Anciano , Sistemas de Información en Atención Ambulatoria/economía , Distribución de Chi-Cuadrado , Sistemas de Computación , Demografía , Medicina Familiar y Comunitaria/organización & administración , Femenino , Humanos , Masculino , Persona de Mediana Edad , New York , Cooperación del Paciente , Servicios Preventivos de Salud/estadística & datos numéricos , Estudios Prospectivos , Sistemas Recordatorios/economía
11.
JAMA ; 266(1): 80-3, 1991 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-1904506

RESUMEN

OBJECTIVE: --To determine the necessary length of stay for patients admitted to the hospital with an exacerbation of chronic pulmonary disease and to compare this with the length of stay assigned by the diagnosis related group system. DESIGN: --A cohort of patients were followed up prospectively after hospital admission to determine when complications, critical incidents, and the need for monitoring occurred. The medically derived necessary lengths of stay were statistically compared with the lengths of stay assigned by the diagnosis related group. Clinical factors were used to predict long vs short necessary lengths of stay. SETTING: --Two acute care hospitals: one was the principal and the other a major community teaching hospital. PATIENTS: --A consecutive sample of 83 patients who were 45 years of age or older and who required admission for treatment of chronic pulmonary disease. MAIN OUTCOME MEASURES: --The occurrence and time of complications, critical interventions, and monitoring. RESULTS: --After 6 days in the hospital, 90% of patients were free of complications or the need for monitoring. However, 16 days elapsed before 90% of patients had been discharged from the hospital. The length of stay that was considered necessary for care averaged 6.9 days; the actual mean length of stay was 8.7 days. The correlation between each patient's ideal length of stay and the length of stay assigned by the diagnosis related group was low and was not statistically significant. Three clinical variables at the time of admission (high PCO2 levels, symptoms that were present for more than 1 day, and antibiotic treatment) were associated with the need for longer hospital stays. CONCLUSIONS: --The medically required length of stay for patients with an exacerbation of chronic pulmonary disease was between 6 and 7 days, on average. This length of stay, which was based on clinical events, differs from the length of stay that was calculated as a statistical norm by the diagnosis related group system. Clinical characteristics may help to identify patients who require a longer length of stay.


Asunto(s)
Espasmo Bronquial/terapia , Tiempo de Internación/estadística & datos numéricos , Enfermedades Pulmonares Obstructivas/terapia , Anciano , Enfermedad Crónica , Protocolos Clínicos , Estudios de Cohortes , Grupos Diagnósticos Relacionados , Femenino , Estudios de Seguimiento , Hospitales con más de 500 Camas , Humanos , Masculino , Persona de Mediana Edad , New York , Estudios Prospectivos
12.
J Thorac Cardiovasc Surg ; 96(1): 117-21, 1988 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-2455199

RESUMEN

Eighty-five patients received a classic Blalock-Taussig shunt between 1973 and 1986. Their age range was 1 day to 9.3 years and their median age was 4 months. Forty-one percent (35/85) were less than 1 month of age. The basic operative technique was unchanged throughout the time period. The subclavian artery opposite the side of the arch was used in 89% (79/88) of the patients. All anastomoses were done with monofilament suture and there was a tendency toward smaller suture material (7-0) in the latter years. All anastomoses except one were done with an interrupted suture technique. The operative mortality rate was 4.7% (4/85) and was not statistically related to age, diagnosis, or year of operation. Palliation was considered to be satisfactory until either a second shunt or a premature corrective operation were necessary. Seven patients required a second shunt and three, a premature corrective operation. The mean time between the initial shunt and the second procedure, either a second shunt or a corrective operation, was 2.9 years and 2.4 years, respectively. Twenty-five patients have had an elective corrective operation and the mean interval to that procedure was 3.9 years. Two years after the operation, 97% of patients older than 1 month of age at operation remain in well-palliated condition, as do 87% of those less than 1 month of age. At 4 years, 87% of those older than 1 month and 54% of those less than 1 month of age continue to be in well-palliated condition. The classic Blalock-Taussig shunt provides excellent palliation at a low operative mortality for virtually all patients for a minimum of 2 years. It will provide adequate pulmonary blood flow for most patients for an extended period of time beyond 2 years.


Asunto(s)
Cardiopatías Congénitas/cirugía , Cuidados Paliativos , Arteria Pulmonar/cirugía , Válvula Pulmonar/anomalías , Arteria Subclavia/cirugía , Tetralogía de Fallot/cirugía , Válvula Tricúspide/anomalías , Anastomosis Quirúrgica/métodos , Humanos , Lactante , Recién Nacido , Reoperación , Técnicas de Sutura , Suturas , Factores de Tiempo
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