Antiphospholipid Antibody Syndrome In The Thrombophilia Pilot Project

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106074/1/jth01382.pd

Thrombosis And Hemostasis Centers Pilot Sites Registry: Thrombophilia Screening In Children

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106147/1/jth03026.pd

Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant.

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/135563/1/jum198765249.pd

Renal structure and hypertension in autosomal dominant polycystic kidney disease

Renal structure and hypertension in autosomal dominant polycystic kidney disease. Hypertension has been reported to occur in 50 to 75 percent of subjects with autosomal dominant polycystic kidney disease (ADPKD) prior to the onset of marked renal insufficiency but concurrent with cystic deformation of the renal parenchyma. The present study was undertaken to examine whether the renal structural abnormalities are greater in hypertensive (HBP) versus normotensive (NBP) male and female patients with ADPKD who were matched within gender groups for age, body surface area, serum creatinine concentration (males HBP 1.2 ± 0.02 vs. NBP 1.1 ± 0.03 mg/dl, NS; females HBP 0.9 ± 0.03 vs. NBP 0.9 ± 0.02 mg/dl, NS) and creatinine clearance (males HBP 100 ± 3 vs. NBP 108 ± 3 ml/min/1.73 m2, NS; females HBP 97 ± 3 vs. NBP 96 ± 2 ml/min/1.73 m2, NS). Renal volume was significantly greater in the HBP compared to the NBP group (males HBP 624 ± 47 vs. NBP 390 ± 43 cm3, P < 0.0005; females HBP 466 ± 32 vs. NBP 338 ± 24 cm3, P < 0.002). Since increased renal volume is due to increased cysts, the results indicate that the early high incidence of hypertension in ADPKD correlates with the renal structural abnormalities in this disorder

Elevated maternal lipoprotein (a) and neonatal renal vein thrombosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>Renal vein thrombosis, although rare in adults, is well recognized in neonates and is one of the most common manifestations of neonatal thromboembolic events. The etiology of renal vein thrombosis remains unidentified in the majority of cases. We report a case of renal vein thrombosis in a neonate associated with elevated maternal lipoprotein (a).</p> <p>Case presentation</p> <p>A full-term female infant, appropriate for gestational age, was born via spontaneous vaginal delivery to an 18-year-old primigravida. The infant's birth weight was 3680 g and the Apgar scores were eight and nine at 1 and 5 minutes respectively. Evaluation of the infant in the newborn nursery revealed a palpable mass in the right lumbar area. Tests revealed hematuria and a high serum creatinine level of 1.5 mg/dl. An abdominal ultrasound Doppler flow study demonstrated an enlarged right kidney, right renal vein thrombosis, and progression of the thrombosis to the inferior vena cava. There was no evidence of saggital sinus thrombosis. An extensive work-up of parents for hypercoagulable conditions was remarkable for a higher plasma lipoprotein (a) level of 73 mg/dl and an elevated fibrinogen level of 512 mg/dl in the mother. All paternal levels were normal. The plasma lipoprotein (a) level in the neonate was also normal. The neonate was treated with low molecular weight heparin (enoxaparin) at 1.5 mg/kg/day every 12 hours for 2 months, at which time a follow-up ultrasound Doppler flow study showed resolution of the thrombosis in both the renal vein and the inferior vena cava.</p> <p>Conclusion</p> <p>There have been no studies to date that have explored the effect of abnormal maternal risk factors on fetal hemostasis. A case-control study is required to investigate whether elevated levels of maternal lipoprotein (a) may be a risk factor for neonatal thrombotic processes. Although infants with this presentation are typically treated with anticoagulation, there is a lack of evidence-based guidelines. Treatment modalities vary between study and treatment centers which warrants the establishment of a national registry.</p

Proceedings of the International Haemophilia Prophylaxis Study Group Meeting, November 2003, Montreal, PQ, Canada

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/72691/1/j.1365-2516.2005.01053.x.pd

The relationship between target joints and direct resource use in severe haemophilia

Objectives Target joints are a common complication of severe haemophilia. While factor replacement therapy constitutes the majority of costs in haemophilia, the relationship between target joints and non drug-related direct costs (NDDCs) has not been studied. Methods Data on haemophilia patients without inhibitors was drawn from the ‘Cost of Haemophilia across Europe – a Socioeconomic Survey’ (CHESS) study, a cost assessment in severe haemophilia A and B across five European countries (France, Germany, Italy, Spain, and the United Kingdom) in which 139 haemophilia specialists provided demographic and clinical information for 1285 adult patients. NDDCs were calculated using publicly available cost data, including 12-month ambulatory and secondary care activity: haematologist and other specialist consultant consultations, medical tests and examinations, bleed-related hospital admissions, and payments to professional care providers. A generalized linear model was developed to investigate the relationship between NDDCs and target joints (areas of chronic synovitis), adjusted for patient covariates. Results Five hundred and thirteen patients (42% of the sample) had no diagnosed target joints; a total of 1376 target joints (range 1–10) were recorded in the remaining 714 patients. Mean adjusted NDDCs for persons with no target joints were EUR 3134 (standard error (SE) EUR 158); for persons with one or more target joints, mean adjusted NDDCs were EUR 3913 (SE EUR 157; average mean effect EUR 779; p < 0.001). Conclusions Our analysis suggests that the presence of one or more target joints has a significant impact on NDDCs for patients with severe haemophilia, ceteris paribus. Prevention and management of target joints should be an important consideration of managing haemophilia patients

Choosing outcome assessment tools in hämophilia care and research: a multidisciplinary perspective

Introduction: The implementation of early long-term, regular clotting factor concentrate (CFC) replacement therapy ('prophylaxis') has made it possible to offer boys with haemophilia a near normal life. Many different regimens have reported favourable results, but the optimum treatment regimens have not been established and the cost of prophylaxis is very high. Both for optimizing treatment and reimbursement issues, there is a need to provide objective evidence of both short-and long-term results and benefits of prophylactic regimens. Aims: This report presents a critical review of outcome measures for use in the assessment of musculoskeletal health in persons with haemophilia according to the International Classification of Functioning, Disability and Health (ICF). This framework considers structural and functional changes, activities and participation in a context of both personal and environmental factors. Methods: Results were generated by a combination of a critical review of available literature plus expert opinion derived from a two day consensus conference between 48 health care experts from different disciplines involved in haemophilia assessment and care. Outcome tools used in haemophilia were reviewed for reliability and validity in different patient groups and for resources required. Results and conclusion: Recommendations for choice of outcome tools were made according to the ICF domains, economic setting, and reason for use (clinical or research). The next step will be to identify a 'core' set of outcome measures for use in clinical care or studies evaluating treatment

Towards a consensus-based classification of childhood arterial ischemic stroke.

Background and purposeThe implementation of uniform nomenclature and classification in adult arterial ischemic stroke (AIS) has been critical for defining outcomes and recurrence risks according to etiology and in developing risk-stratified treatments. In contrast, current classification and nomenclature in childhood AIS are often overlapping or contradictory. Our purpose was to develop a comprehensive consensus-based classification system for childhood AIS.MethodsUsing a modified-Delphi method, members of the International Pediatric Stroke Study (IPSS) developed the Childhood AIS Standardized Classification And Diagnostic Evaluation (CASCADE) criteria. Two groups of pediatric stroke specialists from the IPSS classified 7 test cases using 2 methods each: (1) classification typical of the individual clinician's current clinical practice; and (2) classification based on the CASCADE criteria. Group 1 underwent in-person training in the utilization of the CASCADE criteria. Group 2 classified the same cases via an online survey, including definitions but without training. Inter-rater reliability (IRR) was assessed via multi-rater unweighted κ-statistic.ResultsIn Group 1 (with training), IRR was improved using CASCADE criteria (κ=0.78, 95% CI=[0.49, 0.94]), compared with typical clinical practice (κ=0.40, 95% CI=[0.11, 0.60]). In Group 2 (without training), IRR was lower than among trained raters (κ=0.61, 95% CI=[0.29, 0.77]), but higher than current practice (κ=0.23, 95% CI=[0.03, 0.36]).ConclusionsA new, consensus-based classification system for childhood AIS, the CASCADE criteria, can be used to classify cases with good IRR. These preliminary findings suggest that the CASCADE criteria may be particularity useful in the setting of prospective multicenter studies in childhood-onset AIS, where standardized training of investigators is feasible

Inter-Rater Reliability of the CASCADE Criteria: Challenges in Classifying Arteriopathies.

Background and purposeThere are limited data about the reliability of subtype classification in childhood arterial ischemic stroke, an issue that prompted the IPSS (International Pediatric Stroke Study) to develop the CASCADE criteria (Childhood AIS Standardized Classification and Diagnostic Evaluation). Our purpose was to determine the CASCADE criteria's reliability in a population of children with stroke.MethodsEight raters from the IPSS reviewed neuroimaging and clinical records of 64 cases (16 cases each) randomly selected from a prospectively collected cohort of 113 children with arterial ischemic stroke and classified them using the CASCADE criteria. Clinical data abstracted included history of present illness, risk factors, and acute imaging. Agreement among raters was measured by unweighted κ statistic.ResultsThe CASCADE criteria demonstrated a moderate inter-rater reliability, with an overall κ statistic of 0.53 (95% confidence interval [CI]=0.39-0.67). Cardioembolic and bilateral cerebral arteriopathy subtypes had much higher agreement (κ=0.84; 95% CI=0.70-0.99; and κ=0.90; 95% CI=0.71-1.00, respectively) than cases of aortic/cervical arteriopathy (κ=0.36; 95% CI=0.01-0.71), unilateral focal cerebral arteriopathy of childhood (FCA; κ=0.49; 95% CI=0.23-0.76), and small vessel arteriopathy of childhood (κ=-0.012; 95% CI=-0.04 to 0.01).ConclusionsThe CASCADE criteria have moderate reliability when used by trained and experienced raters, which suggests that it can be used for classification in multicenter pediatric stroke studies. However, the moderate reliability of the arteriopathic subtypes suggests that further refinement is needed for defining subtypes. Such revisions may reduce the variability in the literature describing risk factors, recurrence, and outcomes associated with childhood arteriopathy