scholarly journals Vascular at-risk genotypes and disease severity in Lebanese sickle cell disease patients

2010 ◽  
pp. NA-NA
Author(s):  
Chantal Farra ◽  
Laila Zahed ◽  
Paul J. Nietert ◽  
Hala Hourani ◽  
Oussama Jradi ◽  
...  
Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 2489-2489
Author(s):  
Jack M Leschke ◽  
Julie A. Panepinto ◽  
Raymond G Hoffmann ◽  
Ke Yan ◽  
David Brousseau

Abstract Abstract 2489 Poster Board II-466 Elevated hospitalization rates for patients with sickle cell disease are largely a result of frequent vaso-occlusive crises. Recent hospital utilization concerns have placed increasing emphasis on rehospitalization as a cost saving and quality of care measure. For sickle cell disease, 30 day rehospitalization has become a benchmark for care quality. Previous reports have shown 30 day rehospitalization rates as high as 30-47% and propose outpatient follow-up as a preventive measure. However, these studies have been limited to single centers and have focused only on specific age groups. Our study sought to examine the efficacy of outpatient follow-up on 30 day rehospitalization prevention across all ages in a statewide Medicaid program. We hypothesized that a post-discharge outpatient visit is associated with lower rehospitalization rates for patients with sickle cell disease. The study is a retrospective cohort using Wisconsin Medicaid claims data for hospitalized children and adults with sickle cell disease from January 1, 2003 to December 31, 2007. Patients at risk for rehospitalization were identified using sickle cell disease-related ICD-9 diagnosis codes (28241, 28242, 28260-28269) at inpatient discharge. The first hospitalization with a sickle cell diagnosis for each individual was extracted and then only those hospitalizations with a diagnosis of sickle cell crisis (28242, 28262, 28264, 28269) were included. Each patient participated in the study only once. The main outcome measure was a rehospitalization within 30 days of discharge from the previous hospitalization. Individuals were considered to have had an outpatient follow-up visit based on a claim for an outpatient visit within 30 days of discharge or prior to a rehospitalization if the rehospitalization occurred in fewer than 30 days. Outpatient visits that occurred on the same day as the rehospitalization were not included. Outpatient visits were calculated as rates to avoid the bias of those not being rehospitalized having more time for an outpatient visit. Multiple logistic regression was performed to evaluate the association between having an outpatient visit, disease severity, and asthma on the outcome of rehospitalization. Severe cases were defined as individuals with 3 or more hospitalizations within 1 year beginning 2 months after the index hospitalization. Patients were excluded from our study if the index hospitalization resulted in death, as they were not at risk for rehospitalization. Four hundred and eight patients with a hospitalization for sickle cell crisis were included in the analysis. Of these 408 patients, 70 (17%) were rehospitalized within 30 days following discharge from the index hospitalization. Of the 70 re-hospitalized patients, 35 (50%) were re-hospitalized within 11 days, and 54 (77%) were rehospitalized within 22 days from discharge. Multiple regression revealed that severe disease was associated with rehospitalization (4.693, 95% CI (2.674, 8.236)), but neither the outpatient visit rate (OR 0.970, 95% CI (0.367, 2.560)) nor a diagnosis of asthma (OR 0.862, 95% CI (0.467, 1.592)) were associated with rehospitalization. Of note, when the unadjusted analysis using the simple existence of an outpatient visit prior to rehospitalization was used, outpatient visits did show an association with decreased rehospitalizations; however this association was no longer significant when adjusted for the increased time for an outpatient visit in those not rehospitalized within 30 days. Contrary to our hypothesis, outpatient follow-up was not associated with fewer rehospitalizations in our study, when the outpatient follow-up rate was used to correct for the increased time for outpatient visits in those not rehospitalized. Disease severity was found to be the only statistically significant predictor of rehospitalization for patients with sickle cell disease. Disclosures: No relevant conflicts of interest to declare.


2016 ◽  
Vol 63 (6) ◽  
pp. 1060-1064 ◽  
Author(s):  
David J. Martyres ◽  
Abi Vijenthira ◽  
Nick Barrowman ◽  
Sydney Harris-Janz ◽  
Christine Chretien ◽  
...  

2015 ◽  
Vol 05 (01) ◽  
pp. 24-33
Author(s):  
E. Leila Jerome Clay ◽  
Alison Motsinger-Reif ◽  
Janelle Hoskins ◽  
Lindsay Veit ◽  
Ali Calikoglu ◽  
...  

PEDIATRICS ◽  
1973 ◽  
Vol 52 (3) ◽  
pp. 463-463
Author(s):  
John M. Carr

In Pediatrics, Volume 51, No. 4, April 1973, there is a commentary by Fost and Kaback entitled, "Why Do Sickle Cell Screening in Children?"1 On page 742 there appears this statement, "Genetic counseling might assist parents in family planning and the possibility of intrauterine diagnosis of sickle-cell disease would offer a more meaningful opportunity for parents at risk to bear healthy children." This statement seems vague and confusing in an otherwise reasonably straightforward article. If the authors are suggesting that such women either be aborted or counseled concerning the possibilities of this, why not come out and say so?


Author(s):  
John-John B. Schnog ◽  
Leroy R. Lard ◽  
Robert A. Rojer ◽  
Fey P. L. Van der Dijs ◽  
Frits A. J. Muskiet ◽  
...  

2020 ◽  
pp. 112067212095761
Author(s):  
Oluwatoyin I. Oladimeji ◽  
Oluwagbemiga O. Adeodu ◽  
Oluwatoyin H. Onakpoya ◽  
Samuel A. Adegoke

Introduction: Sickle cell disease (SCD) ranks high among genetic disorders worldwide. It is characterised by repeated vaso-occlusion with resultant end-organ damage. This process can occur in all vascular beds in the body, including ocular blood vessels and may cause irreversible blindness in advanced stages. Little is known of the relationship between the prevalence of ocular abnormalities among children with SCD and their disease severity. Methods: A descriptive cross-sectional study was carried out at the Paediatric Haematology Clinics and the Eye Centre of the Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife. Children with SCD in steady state were recruited from the Haematology Clinics and examined for ocular abnormalities at the Eye Centre of the hospital. The subjects SCD severity grade was determined using a previously validated scoring system. Results: One hundred and twenty (120) children aged 5 to 15 years were examined. Of these, 72 had one or more ocular abnormalities giving the prevalence of ocular abnormalities among them to be 60.0%. Though a higher proportion of children with moderate disease, 23 (65.7%) of 35, compared to those with mild disease, 49 (57.6%) of 85 had ocular abnormalities, this difference was not statistically significant, p = 0.412. Conclusion: Ocular abnormalities among Nigerian children with SCD are common even in steady-state, but not significantly associated with disease severity. Periodic screening for ocular abnormalities should thus be done on them irrespective of disease severity.


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3791-3791
Author(s):  
Ageliki Gerovassili ◽  
Kypros H. Nicolaides ◽  
Swee Lay Thein ◽  
David Rees

Abstract Cell free (cf) DNA in maternal circulation is increasingly investigated in pregnancy. We aimed to determine if sickle cell trait women had quantitative differences of cfDNA with controls and if there was an ethnic difference between the cfDNA levels of Northern European and African/African-Caribbean populations. Non-invasive prenatal diagnosis through quantification of fetal and total cfDNA was tested in 33 pregnant women at risk of carrying a fetus affected with sickle cell disease and 124 control pregnancies. Fetal cfDNA assays were based on two Y chromosome specific markers (SRY and DYS14) and total cfDNA was based on the β-globin gene on chromosome 11. Maternal age (MA), gestation age (GA), fetal sex, storage time prior to extraction, maternal weight and body mass index (BMI) before pregnancy were compared to the fetal and total cfDNA levels. No significant difference in the fetal or total cfDNA levels was found between any of the control pregnancies and the sickle cell trait mothers carrying HbAA, HbAS and HbSS fetuses. However, higher levels of total cfDNA, but lower fetal cfDNA levels were observed in the African/African-Caribbean population compared with the Nothern Europeans. A significant variation in cfDNA was found between ethnic groups, which should be taken under consideration in future studies measuring cfDNA.


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 786-786
Author(s):  
Paola Sebastiani ◽  
Vikki G. Nolan ◽  
Clinton T. Baldwin ◽  
Maria M. Abad-Grau ◽  
Ling Wang ◽  
...  

Abstract A single point mutation in the β hemoglobin gene causes sickle cell disease (SCD), but patients have extremely variable phenotypes. Hemolysis-related complications include pulmonary hypertension (PHT), priapism, stroke and leg ulceration; blood viscosity and sickle vasoocclusion are associated with painful episodes, acute chest syndrome and osteonecrosis. Predicting who is at highest risk of death would be useful therapeutically and prognostically. Applying Bayesian network modeling that describes complex interactions among many variables by factorizing their joint probability distribution into modules, to data from 3380 SCD patients, we constructed a disease severity score (DSS: 0, least severe; 1, most severe), defining severity as risk of death within 5 years. A network of 24 variables described complex associations among clinical and laboratory complications of SCD. The analysis was validated in 140 patients whose SCD severity was assessed by expert clinicians and 210 adults where severity was also assessed by the echocardiographic diagnosis of PHT and death. Information about PHT allowed a comparison of the DSS with the tricuspid regurgitant jet velocity (TRJV), an objective marker of PHT and an independent risk factor for death. DSS and three indices of clinical severity (severity ranking of individuals by expert clinicians; objective measurement of the presence and severity of PHT; risk of prospective death) were correlated. Among living subjects, the median score was 0.57 in 135 patients without PHT, 0.64 in 40 patients with mild PHT and 0.86 in 15 patients with severe PHT. The difference in average score between living patients with and without PHT is significant. The same increasing trend was noticeable in the subjects who died during follow-up: 0.60 in subjects without PHT; 0.68 in subjects with mild PHT; 0.79 in subjects with severe PHT. The utility of the DSS is also supported by the ability to assign a score to subjects for whom the TRJV cannot be measured. Surprisingly, besides known risk factors like renal insufficiency and leukocytosis, we identified the intensity of hemolytic anemia and clinical events associated with hemolytic anemia as contributing to risk for death. Priapism, an excellent reflection of the hemolytic anemia-related complications of SCD, is associated with PHT and its association with death was unexpected. Laboratory variables predictive of disease severity included LDH and reticulocytes that reflect the intensity of hemolytic anemia. Elevated systolic blood pressure increased the odds of death by 3.4, consistent with hypertension as a marker of early death in SCD. Subjects with sickle cell anemia are at greatest risk compared with subjects with sickle cell anemia-α thalassemia and with subjects with HbSC disease. Our model suggests that the intensity of hemolytic anemia, estimated by LDH, reticulocyte count and AST, and shown previously to be associated with PHT, priapism, leg ulceration and possibly stroke, is an important contributor to death. This model can be used to compute a personalized measure of disease severity that might be useful for guiding therapeutic decisions and designing clinical trials.


Sign in / Sign up

Export Citation Format

Share Document