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Dive into the research topics where J. M. Soucie is active.

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Featured researches published by J. M. Soucie.


Haemophilia | 2011

Range of motion measurements: reference values and a database for comparison studies

J. M. Soucie; C. Wang; A. Forsyth; Sharon Funk; M. Denny; K. E. Roach; D. Boone

Summary.  Many diseases and injuries can impair joint mobility. Normal reference values are needed to determine extent of impairment to assess and monitor joint motion. There is very little published data describing normal joint range of motion (ROM) for healthy men and women across a wide span of ages. We enrolled male and female subjects aged between 2 and 69 years who were free from conditions that could potentially limit joint mobility for the study. Nine licensed physical therapists used universal goniometers to determine passive joint motion bilaterally of elbow flexion, extension, supination and pronation, shoulder flexion, hip flexion and extension, knee flexion and extension, and ankle dorsiflexion and plantarflexion. Descriptive statistics were calculated for male and female subjects in four age groups: 2–8, 9–19, 20–44 and 45–69 years. Joint ROM measurements were obtained on a total of 674 (53.6% female) healthy, normal subjects aged 2–69 years. Female subjects had greater joint mobility in all age groups in nearly all joints and the gender difference was most obvious in measures of ankle plantarflexion, elbow pronation and supination. Range of motion average values for all joints decreased with advancing age for both men and women and, in most cases, were significantly different than most commonly used normative values. Our study of ROM measurements taken by trained physical therapists on a large sample of healthy individuals revealed significant gender‐ and age‐related variation that may be an important consideration in patient assessment.


Haemophilia | 2012

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.

Connie H. Miller; Jane M. Benson; Dorothy Ellingsen; Jennifer Driggers; Amanda B. Payne; Fiona M. Kelly; J. M. Soucie; W. Craig Hooper

Summary.  Both genetic and treatment‐related risk factors contribute to the development of inhibitors in haemophilia. An inhibitor surveillance system piloted at 12 US sites has the goal of assessing risk factors through prospective data collection. This report examines the relationship of genotype and race/ethnicity to history of inhibitor in a large cohort of US haemophilia patients. Mutation analysis was performed on 676 haemophilia A (HA) and 153 haemophilia B (HB) patients by sequencing, Multiplex Ligation‐dependent Probe Amplification, and PCR for inversions in F8 introns 22 (inv22) and 1 (inv1). Two HB patients with deletions had history of inhibitor. In severe HA, frequency of history of inhibitor was: large deletion 57.1%, splice site 35.7%, inv22 26.8%, nonsense 24.5%, frameshift 12.9%, inv1 11.1% and missense 9.5%. In HA, 19.6% of 321 White non‐Hispanics (Whites), 37.1% of 35 Black non‐Hispanics (Blacks) and 46.9% of 32 Hispanics had history of inhibitor (P = 0.0003). Mutation types and novel mutation rates were similar across ethnicities. When F8 haplotypes were constructed, Whites and Hispanics showed only H1 and H2. Within H1, history of inhibitor was 12.4% in Whites, 40.0% in Blacks (P = 0.009) and 32.4% in Hispanics (P = 0.002). Inhibitor frequency is confirmed to vary by mutation type and race in a large US population. White patients with history of inhibitor did not exhibit rare F8 haplotypes. F8 gene analysis did not reveal a cause for the higher inhibitor frequencies in Black and Hispanic patients.


Haemophilia | 2009

Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention’s (CDC) Universal Data Collection (UDC) project

Roshni Kulkarni; J. M. Soucie; Jeanne M. Lusher; Rodney Presley; A. Shapiro; Joan Cox Gill; M. Manco-Johnson; M. Koerper; Prasad Mathew; Thomas C. Abshire; Donna DiMichele; Keith Hoots; Robert L. Janco; Diane J. Nugent; S. Geraghty; Bruce L. Evatt

Summary.  Lack of detailed natural history and outcomes data for neonates and toddlers with haemophilia hampers the provision of optimal management of the disorder. We report an analysis of prospective data collected from 580 neonates and toddlers aged 0–2 years with haemophilia enrolled in the Universal Data Collection (UDC) surveillance project of the Centers for Disease Control and Prevention (CDC). This study focuses on a cohort of babies with haemophilia whose diagnosis was established before the age of two. The mode of delivery, type and severity of haemophilia, onset and timing of haemorrhages, site(s) of bleeding, provision of prophylaxis with coagulation factor replacement therapy, and the role played by the federally funded Haemophilia Treatment Centers (HTC) in the management of these infants with haemophilia were evaluated. Seventy‐five per cent of haemophilic infants were diagnosed early, in the first month of life, especially those with a family history or whose mothers were known carriers; infants of maternal carriers were more likely to be delivered by C‐section. Involvement of an HTC prior to delivery resulted in avoidance of the use of assisted deliveries with vacuum and forceps. Bleeding from the circumcision site was the most common haemorrhagic complication, followed by intra‐ and extra‐cranial haemorrhages and bleeding from heel stick blood sampling. Eight per cent of the infants were administered factor concentrate within 24 h of birth; more than half were treated to prevent bleeding. This study highlights the significant rate and the sites of initial bleeding unique to very young children with haemophilia and underscores the need for research to identify optimal evidence‐based recommendations for their management.


Journal of Thrombosis and Haemostasis | 2010

In non-severe hemophilia A the risk of inhibitor after intensive factor treatment is greater in older patients: A case-control study

Christine L. Kempton; J. M. Soucie; Connie H. Miller; Craig Hooper; Miguel A. Escobar; A. J. Cohen; Nigel S. Key; Arthur R. Thompson; Thomas C. Abshire

Summary.  Background: Twenty‐five percent of new anti‐factor VIII (FVIII) antibodies (inhibitors) that complicate hemophilia A occur in those with mild and moderate disease. Although intensive FVIII treatment has long been considered a risk factor for inhibitor development in those with non‐severe disease, its strength of association and the influence of other factors have remained undefined. Objective: To evaluate risk factors for inhibitor development in patients with non‐severe hemophilia A. Methods: Information on clinical and demographic variables and FVIII genotype was collected on 36 subjects with mild or moderate hemophilia A and an inhibitor and 62 controls also with mild or moderate hemophilia A but without an inhibitor. Results: Treatment with FVIII for six or more consecutive days during the prior year was more strongly associated with inhibitor development in those ≥ 30 years of age compared with those < 30 years of age [adjusted odds ratio (OR) 12.62; 95% confidence interval (CI), 2.76–57.81 vs. OR 2.54; 95% CI, 0.61–10.68]. Having previously received < 50 days of FVIII was also not statistically associated with inhibitor development on univariate or multivariate analysis. Conclusions: These findings suggest that inhibitor development in mild and moderate hemophilia A varies with age, but does not vary significantly with lifetime FVIII exposure days: two features distinct from severe hemophilia A.


Journal of Thrombosis and Haemostasis | 2006

Incidence of inhibitors in a cohort of 838 males with hemophilia A previously treated with factor VIII concentrates

Christine L. Kempton; J. M. Soucie; Thomas C. Abshire

Summary.  Background: Development of an inhibitory antibody to factor VIII is currently the most serious complication of hemophilia A treatment. The rate of inhibitor development in those that have been previously treated with factor concentrates is poorly defined. Understanding the baseline rate of inhibitor development in the population of previously treated patients (PTPs) is important when evaluating the effect of exposure to new factor replacement products on inhibitor formation. Objectives: To determine the rate of inhibitor development in PTPs with hemophilia A. Methods: A cohort of males with hemophilia A who had data collected on four or more occasions prior to 30 March 2003, as part of the Center for Disease Control and Preventions Universal Data Collection Project, were eligible for inclusion in the cohort. Patients were included in the cohort if they had at least two Bethesda assay measurements and did not have an inhibitor prior to or at the start of the study period. The overall incidence rate was estimated as the number of verified incident inhibitor cases divided by the total follow‐up time in years multiplied by 1000 (cases per 1000 person‐years). Results: A total of 838 patients were included in the study. The overall incidence rate was calculated to be 2.14 cases per 1000 person years. All incident cases had more than 50 exposure days prior to inhibitor development. Conclusions: Given the low rate of inhibitor development in PTPs with hemophilia A, small, non‐randomized studies are inadequate to determine the rate of inhibitor development after exposure to novel products. Ongoing, standardized, postmarketing surveillance is needed to determine if novel factor products pose an increased risk of inhibitor development.


Journal of Thrombosis and Haemostasis | 2012

Validation of Nijmegen-Bethesda assay modifications to allow inhibitor measurement during replacement therapy and facilitate inhibitor surveillance.

Connie H. Miller; S. J. Platt; Anne S. Rice; Fiona M. Kelly; J. M. Soucie

Summary.  Background: As part of a pilot U.S. inhibitor surveillance project initiated at the Centers for Disease Control and Prevention (CDC) in 2006, a centralized inhibitor measurement was instituted.


Haemophilia | 2012

Healthcare expenditures for males with haemophilia and employer-sponsored insurance in the United States, 2008

S. Guh; S. D. Grosse; S. McALISTER; Craig M. Kessler; J. M. Soucie

Summary.  Although hemophilia has a potentially high economic impact, published estimates of health care costs for Americans with hemophilia are sparse and non‐specific as to the non‐bleeding complications of the disease. The objective of this study is to estimate average annual health care expenditures for people with hemophilia covered by employer‐sponsored insurance, stratified according to the influence of age, type of hemophilia [A (factor VIII deficiency) versus B (factor IX)], presence of neutralizing alloantibody inhibitors and exposure to blood‐borne viral infections. Data from the MarketScan® Commercial and Medicare Research Databases were used for the period 2002–2008 to identify cases of hemophilia and to estimate mean and median medical expenditures during 2008. A total of 1,164 males with hemophilia were identified with continuous enrollment during 2008, 933 with hemophilia A and 231 with hemophilia B. Mean health care expenditures were


Haemophilia | 2012

Health care expenditures for Medicaid‐covered males with haemophilia in the United States, 2008

S. Guh; S. D. Grosse; S. McALISTER; Craig M. Kessler; J. M. Soucie

155,136 [median


Haemophilia | 2011

Prevalence and risk factors of cardiovascular disease (CVD) events among patients with haemophilia: experience of a single haemophilia treatment centre in the United States (US).

A. A. Sharathkumar; J. M. Soucie; B. Trawinski; Anne Greist; A. Shapiro

73,548]. Mean costs for 30 (3%) males with an inhibitor were 5 times higher than for males without an inhibitor, approximately


Haemophilia | 2011

The longitudinal effect of body adiposity on joint mobility in young males with Haemophilia A

J. M. Soucie; C. Wang; Azfar E Alam Siddiqi; Roshni Kulkarni; Michael Recht; Barbara A. Konkle

697,000 [median

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Connie H. Miller

Centers for Disease Control and Prevention

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Thomas C. Abshire

Medical College of Wisconsin

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Joan Cox Gill

Medical College of Wisconsin

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Roshni Kulkarni

Michigan State University

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S. D. Grosse

Centers for Disease Control and Prevention

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A. Shapiro

Medical College of Wisconsin

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