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1.
Am J Med Genet A ; 185(8): 2361-2373, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33960638

RESUMEN

To use national mortality and state death certificate records to estimate disease specific mortality rates among pediatric and adult populations for 23 leukodystrophies (LDs) with pediatric forms. Additionally, to calculate yearly prevalence and caseload of the most severe LD cases that will eventually result in pediatric death (i.e., pediatric fatality cases). Death certificate records describing cause of death were collected from states based on 10 ICD-10 codes associated with the 23 LDs. Deaths in the U.S. with these codes were distributed into categories based on proportions identified in state death certificate data. Mortality rates, prevalence, and caseload were calculated from resulting expected numbers, population sizes, and average lifetimes. An estimated 1.513 per 1,000,000 0-17 year old's died of these LDs at average age 5.2 years and 0.194 for those ≥18 at an average age of 42.3 years. Prevalence of pediatric fatality cases of these LDs declined from 1999 through 2007 and then remained constant at 6.2 per million children per year through 2012. Epidemiological information, currently lacking for rare diseases, is useful to newborn screening programs, research funding agencies, and care centers for LD patients. Methods used here are generally useful for studying rare diseases.


Asunto(s)
Leucodistrofia Metacromática/mortalidad , Factores de Edad , Algoritmos , Causas de Muerte , Análisis de Datos , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Leucodistrofia Metacromática/epidemiología , Leucodistrofia Metacromática/etiología , Leucodistrofia Metacromática/historia , Mortalidad , Vigilancia de la Población , Prevalencia , Estados Unidos/epidemiología
2.
Genet Med ; 21(7): 1644-1651, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30546085

RESUMEN

PURPOSE: Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool based on two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC). METHODS: We developed the tool using measures from dried blood spots of 166 normal newborns and tested it on dried blood spot measures from 15 newborns who later developed KD, 8 newborns identified as "high risk" by the New York screening protocol but were disease-free at follow-up, and 3 symptomatic children with onset before 4 years of age. The tool was developed from the (1-10-6)100% prediction region of the natural logarithms of psychosine and GalC measures, assuming bivariate normality, and their univariate normal limits. RESULTS: Krabbe disease was predicted correctly for every patient who developed symptoms in infancy or early childhood. None of the high-risk patients were incorrectly identified as having early KD. CONCLUSION: Bivariate analysis of psychosine and GalC in newborn blood spots can accurately predict early Krabbe symptoms, control false positive rates, and permit presymptomatic treatment.


Asunto(s)
Pruebas con Sangre Seca , Galactosilceramidasa/sangre , Leucodistrofia de Células Globoides/diagnóstico , Psicosina/sangre , Adulto , Biomarcadores/sangre , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Leucodistrofia de Células Globoides/sangre
3.
J Neurosci Res ; 94(11): 1084-93, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27638594

RESUMEN

Krabbe's disease (KD) is a fatal neurodegenerative disorder, with the early-infantile form (EIKD) defined by onset of symptoms before age 6 months. Early and highly accurate identification of EIKD is required to maximize benefits of hematopoietic stem cell transplantation treatment. This study investigates the potential for accurate prediction of EIKD based on a novel newborn screening (NBS) tool developed from two biomarkers, galactocerebrosidase (GALC) enzyme activity and galactosylsphingosine concentration (psychosine [PSY]). Normative information about PSY and GALC, derived from distinct samples of normal newborns, was used to develop the novel diagnostic tool. Bivariate normal limits (BVNL) were constructed, assuming a multivariate normal distribution of natural logarithms of GALC and PSY of normal newborns. The (lnGALC, lnPSY) points for newborns in various "abnormal groups," including one group of infants who subsequently suffered EIKD, were plotted on a graph of BVNL. The points for all EIKD patients fell outside of BVNL (100% sensitivity). In a simulation study to compare the false-positive rate of existing univariate methods of diagnosis with our new BVNL-based method, we generated 100 million normal newborn data points. All fell within BVNL (i.e., zero false positives), whereas 5,682 false positives were observed when applying a two-tiered univariate method of the type suggested in the literature. These results suggest that (lnGALC, lnPSY) BVNLs will allow highly accurate prediction of EIKD, whereas two-tiered univariate approaches will not. Redevelopment of the BVNL based on GALCs and PSYs measured on a common large sample of normal newborns is required for NBS use. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Galactosilceramidasa/metabolismo , Leucodistrofia de Células Globoides/diagnóstico , Leucodistrofia de Células Globoides/metabolismo , Tamizaje Neonatal/métodos , Psicosina/metabolismo , Femenino , Humanos , Recién Nacido , Masculino , Valor Predictivo de las Pruebas
4.
J Neurosci Res ; 94(11): 1189-94, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27638603

RESUMEN

Krabbe's disease (KD) is a severe neurodegenerative disorder affecting white matter in the brain and peripheral nerves. Transplantation of hematopoietic stem cells (HSCT), although not curative, has been shown to extend survival and alleviate neurodevelopmental symptoms when treatment precedes the onset of symptoms. Existing evidence, although not tested statistically, seems clearly to show that postsymptomatic transplantation does not improve neurodevelopmental outcomes. The impact of postsymptomatic HSCT treatment on survival, however, is an open question. This study uses a KD registry to examine the effect of HSCT on survival of symptomatic KD patients. Sixteen transplanted patients were matched by age of onset to 68 nontransplanted patients. The potential confounding effect of age of onset was, therefore, avoided. To quantify the effect of HSCT over time, we used Cox regression analysis, and we observed a sustained and nearly 2.2-fold risk of death from KD in patients who were not transplanted relative to those who were transplanted (one-tailed P = 0.0365; 95% lower bound = 1.07). The improvement of survival resulting from HSCT did not appear to depend on the age of symptom onset. Thus, these results establish a long-term, quantitative benefit of HSCT even in patients who are already experiencing symptoms. They also provide a benchmark for improved survival that can be used for potential new treatments for KD. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas/métodos , Leucodistrofia de Células Globoides/mortalidad , Leucodistrofia de Células Globoides/cirugía , Resultado del Tratamiento , Edad de Inicio , Femenino , Humanos , Lactante , Masculino , Análisis de Supervivencia
5.
Gynecol Oncol ; 138(1): 101-8, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25937529

RESUMEN

PURPOSE: The aim of this study was to identify patient and physician factors related to enrollment onto Gynecologic Oncology Group (GOG) trials. METHODS: Prospective study of women with primary or recurrent cancer of the uterus or cervix treated at a GOG institution from July 2010 to January 2012. Logistic regression examined probability of availability, eligibility and enrollment in a GOG trial. Odds ratios (OR) and 95% confidence intervals (CI) for significant (p<0.05) results reported. RESULTS: Sixty institutions, 781 patients, and 150 physicians participated, 300/780 (38%) had a trial available, 290/300 had known participation status. Of these, 150 women enrolled (59.5%), 102 eligible did not enroll (35%), 38 (13%) were ineligible. Ethnicity and specialty of physician, practice type, data management availability, and patient age were significantly associated with trial availability. Patients with >4 comorbidities (OR 4.5; CI 1.7-11.8) had higher odds of trial ineligibility. Non-White patients (OR 7.9; CI 1.3-46.2) and patients of Black physicians had greater odds of enrolling (OR 56.5; CI 1.1-999.9) in a therapeutic trial. Significant patient therapeutic trial enrollment factors: belief trial may help (OR 76.9; CI 4.9->1000), concern about care if not on trial (OR12.1; CI 2.1-71.4), pressure to enroll (OR .27; CI 0.12-.64), caregiving without pay (OR 0.13; CI .02-.84). Significant physician beliefs were: patients would not do well on standard therapy (OR 3.6; CI 1.6-8.4), and trial would not be time consuming (OR 3.3; CI 1.3-8.1). CONCLUSIONS: Trial availability, patient and physician beliefs were factors identified that if modified could improve enrollment in cancer cooperative group clinical trials.


Asunto(s)
Ensayos Clínicos como Asunto/métodos , Ensayos Clínicos como Asunto/psicología , Selección de Paciente , Médicos/psicología , Neoplasias del Cuello Uterino/psicología , Neoplasias Uterinas/psicología , Adulto , Anciano , Anciano de 80 o más Años , Toma de Decisiones , Femenino , Humanos , Persona de Mediana Edad , Aceptación de la Atención de Salud , Estudios Prospectivos , Neoplasias del Cuello Uterino/terapia , Neoplasias Uterinas/terapia , Adulto Joven
6.
Biom J ; 57(5): 885-96, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26080753

RESUMEN

For confidentiality reasons, US federal death certificate data are incomplete with regards to the dates of birth and death for the decedents, making calculation of total lifetime of a decedent impossible and thus estimation of mortality incidence difficult. This paper proposes the use of natality data and an imputation-based method to estimate age-specific mortality incidence rates in the face of this missing information. By utilizing previously determined probabilities of birth, a birth date and death date are imputed for every decedent in the dataset. Thus, the birth cohort of each individual is imputed, and the total on-study time can be calculated. This idea is implemented in two approaches for estimation of mortality incidence rates. The first is an extension of a person-time approach, while the second is an extension of a life table approach. Monte Carlo simulations showed that both approaches perform well in comparison to the ideal complete data methods, but that the person-time method is preferred. An application to Tay-Sachs disease is demonstrated. It is concluded that the imputation methods proposed provide valid estimates of the incidence of death from death certificate data without the need for additional assumptions under which usual mortality rates provide valid estimates.


Asunto(s)
Biometría/métodos , Tasa de Natalidad , Certificado de Defunción , Enfermedad de Tay-Sachs/mortalidad , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Método de Montecarlo , Riesgo
7.
Stat Med ; 33(25): 4469-81, 2014 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-24962535

RESUMEN

Multiple indicators, multiple causes (MIMIC) models are often employed by researchers studying the effects of an unobservable latent variable on a set of outcomes, when causes of the latent variable are observed. There are times, however, when the causes of the latent variable are not observed because measurements of the causal variable are contaminated by measurement error. The objectives of this paper are as follows: (i) to develop a novel model by extending the classical linear MIMIC model to allow both Berkson and classical measurement errors, defining the MIMIC measurement error (MIMIC ME) model; (ii) to develop likelihood-based estimation methods for the MIMIC ME model; and (iii) to apply the newly defined MIMIC ME model to atomic bomb survivor data to study the impact of dyslipidemia and radiation dose on the physical manifestations of dyslipidemia. As a by-product of our work, we also obtain a data-driven estimate of the variance of the classical measurement error associated with an estimate of the amount of radiation dose received by atomic bomb survivors at the time of their exposure.


Asunto(s)
Dislipidemias/sangre , Funciones de Verosimilitud , Armas Nucleares , Dosis de Radiación , Sobrevivientes , Femenino , Humanos , Masculino
8.
BMC Nephrol ; 14: 154, 2013 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-23865435

RESUMEN

BACKGROUND: Chronic kidney disease is associated with disruption of the endocrine system that distorts the balance between calcitriol, calcium, phosphate and parathyroid hormone in the calcium regulation system. This can lead to calcification of the arterial tree and increased risk of cardiovascular disease and death. In this study we develop a health metric, based on biomarkers involved in the calcium regulation system, for use in identifying patients at high risk for future high-cost complications. METHODS: This study is a retrospective observational study involving a secondary analysis of data from the kidney disease registry of a regional managed care organization. Chronic kidney disease patients in the registry from November 2007 through November 2011 with a complete set of observations of estimated glomerular filtration rate, calcitriol, albumin, free calcium, phosphate, and parathyroid hormone were included in the study (n = 284). Weibull regression model was used to identify the most significant lab tests in predicting "waiting time to hospitalization". A multivariate linear path model was then constructed to investigate direct and indirect effects of the biomarkers on this outcome. RESULTS: The results showed negative significant direct effects of phosphate and parathyroid hormone on "waiting time to hospitalization". Base on this result, the risk of hospitalization increases 16.8% for each 0.55 mg/dl increase in phosphate level and 13.5% for each 0.467 increase in the natural logarithm of parathyroid hormone. Positive indirect effects of calcitriol surrogate (calcidiol), free calcium, albumin and estimated glomerular filtration rate were observed but were relatively small in magnitude. CONCLUSION: Variables involved in the calcium regulation system should be included in future efforts to develop a quality of care index for Chronic Kidney disease patients.


Asunto(s)
Calcio/fisiología , Hospitalización/tendencias , Riñón/fisiología , Insuficiencia Renal Crónica/fisiopatología , Insuficiencia Renal Crónica/terapia , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sistema de Registros , Estudios Retrospectivos , Factores de Tiempo , Adulto Joven
9.
Cancer Causes Control ; 23(12): 2013-21, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23073789

RESUMEN

PURPOSE: In the absence of gold standard diagnoses, we estimate age-specific false-positive and false-negative prediction rates of HPV-, cytology-, and histology-based tests for significant cervical lesions (SCL) in US women with AGC-NOS Pap smear diagnoses. METHODS: Modified Latent Class Model (LCM) analyses, with prevalence of SCL modeled as a function of age, were applied to GOG-0171 study data (n = 122). The accuracies of several HPV-based tests, including Hybrid Capture II high-risk HPV (HC2 H-HPV); carbonic anhydrase IX (CA-IX); and invasive histological diagnosis, were compared. 1-PPV and 1-NPV were written as functions of sensitivity, specificity, and prevalence to obtain age-specific false-positive and false-negative rates. RESULTS: The histology-based test was nearly perfect (sensitivity = 1.00, CI = 0.98-1.00; specificity = 0.99, CI = 0.96-1.00). Otherwise, HC2 H-HPV performed best (sensitivity = 1.00, CI = 1.00-1.00; specificity = 0.87, CI = 0.79-0.94). The false-positive detection rates (1-PPV) for HC2 H-HPV were high (>17 %) at each age, while those of the histological diagnoses were low (<5 % at ages ≤60 and <17 % overall ages). False-negative prediction rates (1-NPV) for HC2 H-HPV were <0.11 % at each age and were uniformly lower than those of other tests, including the histology-based test (<0.25 %). CA-IX together with HC2 H-HPV did not improve performance. CONCLUSIONS: Women with negative HC2 H-HPV can safely forego invasive treatment (i.e., cone or LEEP biopsy, hysterectomy) in favor of observational follow-up. Additional biomarkers must be found for use in combination with HC2 H-HPV to reduce false-positive rates. This novel application of a modified LCM exemplifies methods for potential use in future cancer screening studies when gold standard diagnoses are not available.


Asunto(s)
Papillomaviridae/aislamiento & purificación , Infecciones por Papillomavirus/diagnóstico , Displasia del Cuello del Útero/diagnóstico , Displasia del Cuello del Útero/virología , Adulto , Anciano , Citodiagnóstico , Detección Precoz del Cáncer , Femenino , Humanos , Tamizaje Masivo/métodos , Persona de Mediana Edad , Prueba de Papanicolaou , Papillomaviridae/genética , Infecciones por Papillomavirus/patología , Infecciones por Papillomavirus/virología , Sensibilidad y Especificidad , Frotis Vaginal , Adulto Joven , Displasia del Cuello del Útero/patología
10.
Am J Med Genet A ; 158A(11): 2835-42, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22991292

RESUMEN

Leukodystrophies (LD) and lysosomal storage disorders (LSD) have generated increased interest recently as targets for newborn screening programs. Accurate epidemiological benchmarks are needed in the U.S. Age-specific mortality rates were estimated for Krabbe disease (KD) and nine related disorders. U.S. mortality records with E75.2 cause of death code during 1999-2004 were collected from 11 open record states. All E75.2 deaths in the United States were distributed into specific disease type based on proportions observed in these states. Yearly population sizes were obtained from the CDC and averaged. Mortality rates (per million individuals per year) by age group for the specific diseases were (for <5 or ≥5 years): Pelizaeus-Merzbacher (0.037/0.033); sudanophilic leukodystrophy (SLD) (0.037/0.004); Canavan (0.037/0.011), Alexander (0.147/0.022); Krabbe (0.994/0.007); metachromatic leukodystrophy (0.331/0.135); Fabry (0.000/0.124); Gaucher (0.221/0.073); Niemann-Pick (NP) (0.442/0.088); multiple sulfatase (0.000/0.004). This is the first report of mortality rates for the LD/LSD diseases in the U.S. Approximated birth prevalence rate for the early infantile Krabbe phenotype (onset 0-6 months) was based on the <5 year old mortality rate of one early infantile case per 244,000 births, which matches the 1 in 250,000 observed in the NYS newborn screening program as of 2011. It should be noted however that the NYS calculation refers only to the early infantile phenotype and does not include the majority of babies identified in the program with low GALC and two mutations who have remained clinically normal. It is presumed that most, if not all, will develop later onset forms of the disease, but this is by no means certain.


Asunto(s)
Leucodistrofia de Células Globoides/mortalidad , Enfermedades por Almacenamiento Lisosomal/mortalidad , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Causas de Muerte , Niño , Preescolar , Humanos , Lactante , Leucodistrofia de Células Globoides/epidemiología , Enfermedades por Almacenamiento Lisosomal/epidemiología , Persona de Mediana Edad , Estados Unidos/epidemiología , Adulto Joven
11.
Int J Neonatal Screen ; 8(4)2022 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-36412587

RESUMEN

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) as an initial test, with psychosine (PSY) activity increasingly used as a confirmatory test for predicting onset of Krabbe disease, though with an excessive false positive rate. PD is marked by a deficiency in acid α-glucosidase (GAA), causing increased glycogen, creatine (CRE), and other biomarkers. Bivariate normal limit (BVNL) methods have been applied to GaLC and PSY activity to produce a NBS tool for KD, and more recently, to IDUA and GAG activity to develop a NBS tool for MPS I. A BVNL tool based on GAA and CRE is in development for infantile PD diagnosis. Early infantile KD, MPS I, and PD cases were pre-symptomatically identified by BVNL-based NBS tools. This article reviews these developments, discusses how they address screening deficiencies identified by the RUSP and may improve NBS more generally.

12.
BMC Nephrol ; 12: 65, 2011 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-22133421

RESUMEN

BACKGROUND: Controversy exists in predicting costly hospitalization in patients with chronic kidney disease and co-morbid conditions. We therefore tested associations between serum chemistry values and the occurrence of in-patient hospital costs over a thirteen month study period. Secondarily, we derived a linear combination of variables to estimate probability of such occurrences in any patient. METHOD: We calculated parsimonious values for select variables associated with in-patient hospitalization and compared sensitivity and specificity of these models to ordinal staging of renal disease.Data from 1104 de-identified patients which included 18 blood chemistry observations along with complete claims data for all medical expenses.We employed multivariable logistic regression for serum chemistry values significantly associated with in-patient hospital costs exceeding $3,000 in any single month and contrasted those results to other models by ROC area curves. RESULTS: The linear combination of weighted Z scores for parathyroid hormone, phosphorus, and albumin correlated with in-patient hospital care at p<0.005. ROC curves derived from weighted variables of age, eGFR, hemoglobin, albumin, creatinine, and alanine aminotransferase demonstrated significance over models based on non-weighted Z scores for those same variables or CKD stage alone. In contrast, the linear combination of weighted PTH, PO4 and albumin demonstrated better prediction, but not significance over non-weighted Z scores for PTH alone. CONCLUSION: Further study is justified to explore indices that predict costly hospitalization. Such metrics could assist Accountable Care Organizations in evaluating risk adjusted compensation for providers.


Asunto(s)
Costos de Hospital , Enfermedades Renales/economía , Factores de Edad , Algoritmos , Área Bajo la Curva , Bicarbonatos/sangre , Glucemia/análisis , Proteínas Sanguíneas/análisis , Enfermedad Crónica , Estudios de Cohortes , Comorbilidad , Electrólitos/sangre , Estudios de Seguimiento , Predicción , Tasa de Filtración Glomerular , Humanos , Enfermedades Renales/sangre , Modelos Logísticos , Hormona Paratiroidea/sangre , Curva ROC , Sistema de Registros , Estados Unidos
13.
JIMD Rep ; 52(1): 35-42, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32154058

RESUMEN

PURPOSE: Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based on known biomarkers, alpha-L-iduronidase enzyme activity (IDUA) and level of the glycosaminoglycan (GAG) heparan sulfate (HS). METHODS: We developed the NBS tool using measures from dried blood spots (DBS) of 5000 normal newborns from Gifu Prefecture, Japan. The tool's predictive accuracy was tested on the newborn DBS from these infants and from seven patients who were known to have early-onset MPSI (Hurler's syndrome). Bivariate analyses of the standardized natural logarithms of IDUA and HS levels were employed to develop the tool. RESULTS: Every case of early-onset MPSI was predicted correctly by the tool. No normal newborn was incorrectly identified as having early-onset MPSI, whereas 12 normal newborns were so incorrectly identified by the Gifu NBS protocol. The PPV was estimated to be 99.9%. CONCLUSIONS: Bivariate analysis of IDUA with HS in newborn DBS can accurately predict early MPSI symptoms, control false positive rates, and enhance presymptomatic treatment. This bivariate analysis-based approach, which was developed for Krabbe disease, can be extended to additional screened disorders.

14.
Gynecol Oncol ; 114(2): 346-52, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19411096

RESUMEN

OBJECTIVE: To describe trends in mortality rates, in New York State, due to cervical, endometrial and ovarian cancer and to assess how these rates varied with proximity to a comprehensive cancer treatment center or population density (rural/urban). METHODS: Data were obtained from the Centers for Disease Control and Prevention (CDC)'s Compressed Mortality Files, Census Bureau records, and online maps. Poisson regression models were fitted to estimate death rates (mean number of deaths per 100,000 women per year) due to gynecologic cancer type. Trends in death rates were compared with respect to driving time to the nearest comprehensive cancer treatment center and population density, controlling for race, county income level, and age at death. RESULTS: Cervical and endometrial but not ovarian death rates declined over time. For both cervical and endometrial cancers, death rates varied significantly with driving time and between rural and urban counties. In the case of cervical cancer, the decline over time was steeper in rural than in urban counties. For endometrial cancer, the decline steepened with increasing distance from a treatment center. CONCLUSION: Improvements in cervical and endometrial cancer mortality from 1979 to 2001 followed increases in gynecologic cancer treatment research efforts, number of specialists trained to treat such cases, and in the emphasis on gynecologic cancer in the training of physicians in general. Our results are consistent with an interpretation that the progressive actions by leaders in the gynecologic oncology profession during the late 1960's and early 1970's contributed to improvements in mortality rates in subsequent decades.


Asunto(s)
Neoplasias de los Genitales Femeninos/mortalidad , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Centers for Disease Control and Prevention, U.S. , Niño , Preescolar , Neoplasias Endometriales/mortalidad , Femenino , Humanos , Lactante , Persona de Mediana Edad , New York/epidemiología , Neoplasias Ováricas/mortalidad , Factores Socioeconómicos , Estados Unidos , Neoplasias del Cuello Uterino/mortalidad , Adulto Joven
15.
JIMD Rep ; 47(1): 47-54, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31240167

RESUMEN

OBJECTIVES: To develop a quality of life (QOL) survey for Krabbe disease (KD), and to thereby improve understanding of its phenotypic expression and response to treatment. METHODS: The survey, the Leukodystrophy Quality of Life Assessment (LQLA) and the Vineland Adaptive Behavior Scales were co-administered to 33 patients or their caretakers. These included the phenotypes of early infantile KD (EIKD; 0-6 months old at onset), late infantile cases (LIKD; 7-12 months old at onset), and cases that emerged after 12 months old, late onset (LOKD). The sample included cases with and without stem cell transplantation (SCT). Reliability and concurrent validity were assessed for overall and subscale scores. Analysis of variance tested differences in QOL between phenotypes and transplant groups (none, pre-, post-symptom). RESULTS: Good concurrent validity with the Vineland was shown for total, communication, daily activity, social, and motor scales and good reliability was observed. LOKD cases had better communication skills than either EIKD or LIKD and better overall QOL than EIKD. Analyses of individual items showed that communication items, mostly, contributed significantly to phenotype differences. Presymptomatic SCT significantly improved QOL compared to postsymptomatic SCT or no treatment. Presymptomatically treated patients had near-normal total scores. CONCLUSIONS: The LQLA is valid and reliable. Despite small sample size, phenotypic demarcation was determined to be due mainly to differences in communication skills. There was a relative enhancement of QOL in LOKD patients, and in those who had presymptomatic SCT. These results apply to the current controversy about recommendations for newborn screening for this condition.

16.
Pain ; 31(3): 333-344, 1987 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-2962055

RESUMEN

The purpose of the present study was to determine whether patients with recurrent low back pain display a different pattern of mood fluctuations across days than matched healthy controls and whether these mood states are related to pain occurrence and/or magnitude using a prospective design. The questions addressed are whether mood states prior to a pain episode are associated with the episode or whether mood relates to pain as a secondary reaction. Similarly, the relationship between mood state recorded prior to, during or following pain and magnitude of pain experienced was investigated. Thirty-three ambulatory chronic low back pain patients and an equivalent group of asymptomatic controls matched for age, sex, socioeconomic status, and reported activity level monitored mood state (anxiety, tension, depression, anger, vigor, fatigue, confusion) and pain before breakfast, at 4 p.m. and at bedtime for 14 consecutive days. Groups were successfully matched. Analyses revealed significantly higher levels of tension, anxiety and fatigue and lower levels of vigor in the pain cases. No mood state was predictive of pain onset but fatigue was associated with pain 24 h following pain, indicating fatigue as secondary to pain. While mood state recorded prior to or following pain was unable to predict magnitude of pain, fatigue was associated with the level of pain experienced during the pain episode itself. The findings reveal a pattern of anxiety, tension and fatigue where fatigue is associated with increased pain during the pain episode and is increased 24 h following pain. This fatigue-pain relationship is superimposed upon a continuous elevation of anxiety and tension. These findings suggest the importance of pain management efforts directed at decreasing patients' fatigue levels, and increasing functional endurance while simultaneously reducing anxiety. The results also question the role of negative mood states in the initiation or exacerbation of pain and highlights the influence of physical mood states such as fatigue on pain in low back pain.


Asunto(s)
Dolor de Espalda/psicología , Fatiga/complicaciones , Estrés Psicológico/complicaciones , Adulto , Ira , Ansiedad/complicaciones , Depresión/complicaciones , Humanos , Dimensión del Dolor , Recurrencia
17.
Child Abuse Negl ; 28(12): 1253-64, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15607768

RESUMEN

CONTEXT: Of the approximately 900,000 children who were determined to be victims of abuse or neglect by US child protective services in 2002, the birth-to-3 age group had the highest rate of victimization (1.6%) and children younger than 1 accounted for the largest percentage of victims (9.6%). OBJECTIVE: To identify perinatal and sociodemographic risk factors associated with maltreatment of infants up to 1 year of age. DESIGN AND SETTING: Observational cohort study. PARTICIPANTS: 189,055 children born in 1996 in Florida. MAIN OUTCOME MEASURE: Infant maltreatment, defined as a verified report of abuse, neglect, or threatened harm that occurred between day 3 of life and 1 year. RESULTS: 1,602 children (.85%) of the 1996 birth cohort had verified instances of maltreatment by age 1. Of 15 perinatal and sociodemographic variables studied, 11 were found to be significantly related to infant maltreatment. Five factors had adjusted relative risks (RR) of two or greater: Mother smoked during pregnancy (RR 2.8); more than two siblings (RR 2.7); Medicaid beneficiary (RR 2.1); unmarried marital status (RR 2.0); low birth weight infant (RR 2.0). Infants who had four of these five risk factors had a maltreatment rate seven times higher than the population average. CONCLUSIONS: Data on nearly all risk factors found to be significantly associated with infant maltreatment are available on the birth certificate. Such information can be incorporated into a population-based risk-assessment tool that could identify subpopulations at highest risk for infant maltreatment. Because resources are limited, these groups should be given priority for enrollment in child abuse prevention programs.


Asunto(s)
Maltrato a los Niños/estadística & datos numéricos , Vigilancia de la Población/métodos , Preescolar , Estudios de Cohortes , Víctimas de Crimen/estadística & datos numéricos , Demografía , Florida/epidemiología , Humanos , Lactante , Recién Nacido , Observación , Padres , Factores de Riesgo
18.
Rare Dis ; 1: e25212, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-25003000

RESUMEN

This review addresses difficulties arising in estimating epidemiological parameters of leukodystrophies and lysosomal storage disorders, with special focus on Krabbe disease. Although multiple epidemiological studies of Krabbe disease have been published, these studies are difficult to reconcile since they have used different study populations and varying methods of calculation. Confusion exists regarding which epidemiological parameters have been estimated; the current review shows that most previous estimates can be properly interpreted as lifetime risk at birth. One of the most common estimation methods is shown to be inaccurate, while two other methods are shown to be approximately accurate. Based on the results of the current paper, recommendations are made that are expected to improve the quality of future studies of Krabbe disease. It is anticipated that these recommendations will be applicable to epidemiological studies of other lysosomal storage disorders, as well as any other rare diseases diagnosed with enzymatic screening.

19.
Int J Nephrol Renovasc Dis ; 4: 121-30, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22114513

RESUMEN

BACKGROUND: Despite significant investments of federal and state dollars to transition patient medical records to an all-electronic system, a chasm still exists between health care quality and payment for it. A major reason for this gap is the difficulty in evaluating health care outcomes based on claims data. Since both payers and patients may not appreciate how illness complexity impacts treatment outcomes, it is difficult to determine fair provider compensation. OBJECTIVES: Chronic kidney disease (CKD) typifies these problems and is often associated with comorbidities that impact cost, health, and work productivity. Thus, the objective of this study was to evaluate an illness complexity score (ICS) based on a linear regression of select blood values that might assist in predicting average monthly reimbursements in CKD patients. A second objective was to compare the results of this ICS prediction to results obtained by prediction of average monthly reimbursement using CKD stage. A third objective was to analyze the relationship between the change in ICS, estimated glomerular filtration rate (eGFR), and CKD stage over time to average monthly reimbursement. METHODS: We calculated parsimonious values for select variables associated with CKD patients and compared the ICS to ordinal staging of renal disease. Data from 177 de-identified patients over 13 months was collected, which included 15 blood chemistry observations along with complete claims data for all medical expenses. To test for the relationship between average blood chemistry values, stages of CKD, age, and average monthly reimbursement, we modeled an association through a linear regression function of age, eGFR, and the Z-scores calculated from average monthly values of phosphorus, parathyroid hormone, glucose, hemoglobin, bicarbonate, albumin, creatinine, blood urea nitrogen, potassium, calcium, sodium, alkaline phosphatase, alanine aminotransferase, and white blood cells. RESULTS: The results of our study demonstrated that the association between average ICS values throughout the entire study period predicted average monthly reimbursements with an R(2) value of 0.41. Comparing that value to the association between the average CKD stage and average monthly reimbursement demonstrated an R(2) value of 0.08. Thus, ICS offers five times greater sensitivity over CKD staging as a measure of illness complexity. CONCLUSION: Sorting the patient population by changes in CKD stage or ICS over the entire study period revealed significant differences between the two scoring methods. Groups scored by ICS demonstrated greater sensitivity by capturing dysfunction in other organ systems and had a better association with reimbursement than groups scored by CKD staging.

20.
Pediatr Neurol ; 45(3): 141-8, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21824559

RESUMEN

New York State began screening for Krabbe disease in 2006 to identify infants with Krabbe disease before symptom onset. Because neither galactocerebrosidase activity nor most genotypes reliably predict phenotype, the World Wide Registry was developed to determine whether other clinical/neurodiagnostic data could predict early infantile Krabbe disease in the newborn screening population. Data on disease course, galactocerebrosidase activity, DNA mutations, and initial neurodiagnostic studies in 67 symptomatic children with early infantile Krabbe disease were obtained from parent questionnaires and medical records. Initial signs included crying/irritability, cortical fisting, and poor head control. Galactocerebrosidase activity was uniformly low. Eight of 17 manifested novel mutations. Ninety-two percent (n = 25) exhibited elevated cerebrospinal fluid protein; 76% (n = 42) demonstrated abnormal magnetic resonance images; 67% (n = 15) exhibited abnormal computed tomography findings; 43% (n = 28) produced abnormal electroencephalogram findings; 100% (n = 5) demonstrated abnormal nerve conduction velocities; 83% (n = 6) produced abnormal brainstem evoked responses; and 50% (n = 6) exhibited abnormal visual evoked responses. One, 2, and 3 year survivals were 60%, 26%, and 14%, respectively. Although most symptomatic patients with the early infantile phenotype manifested abnormal cerebrospinal fluid protein, magnetic resonance imaging, brainstem evoked responses, and nerve conduction velocities, studies of affected children may be normal. Other biomarkers are needed to predict phenotype in the newborn screening population.


Asunto(s)
Leucodistrofia de Células Globoides/epidemiología , Sistema de Registros , Edad de Inicio , Alelos , Proteínas del Líquido Cefalorraquídeo/metabolismo , ADN/genética , Análisis Mutacional de ADN , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Potenciales Evocados Visuales/fisiología , Femenino , Galactosilceramidasa/metabolismo , Crecimiento/fisiología , Humanos , Lactante , Recién Nacido , Estimación de Kaplan-Meier , Leucodistrofia de Células Globoides/líquido cefalorraquídeo , Leucodistrofia de Células Globoides/diagnóstico , Imagen por Resonancia Magnética , Masculino , Conducción Nerviosa/fisiología , Examen Neurológico , Padres , Encuestas y Cuestionarios , Análisis de Supervivencia
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