Abstract Objectives Despite the psychosocial and physical consequences associated with sickle cell disease (SCD), the daily lived experience of adolescents diagnosed with this disease is a phenomenon ...rarely described. The objective of this study was to explore the daily lived experience of adolescents with SCD living in Lebanon. Method Twelve adolescents with SCD between the ages of 12 and 17 years were interviewed with use of a semi-structured interview during a routine follow-up visit after they were assessed as being pain free. Interviews were transcribed verbatim, and thematic analysis was conducted. Results Adolescents with SCD experience a layered burden consisting of physical, emotional, and sympathetic pain that affects much of their daily personal and social lives. Nevertheless, they seem to claim normalcy and to downplay their pain and suffering in order to limit their caregivers' distress. Conclusion These findings can be used to assist health care providers in designing culturally sensitive interventions specifically designed for adolescents with SCD and their families to enable them to better cope with their illness.
Abstract Introduction Although sickle cell disease (SCD) is the most common single gene disorder worldwide, caregivers of children do not have adequate knowledge about the illness and its management. ...The purpose of this study was to assess the efficacy of education along with tailored written materials in changing the behaviors of caregivers to help them provide better care for children with SCD. Methods A preintervention and postintervention quasi-experimental design was used. A convenience sample of 43 caregivers of 57 children were asked to complete a questionnaire related to their knowledge of SCD before and after educational sessions. The educational sessions (the intervention) were provided to caregivers at the Children's Cancer Center in Lebanon by one registered nurse, one certified pediatric nurse practitioner, and one pediatric hematologist. Emergency department (ED) visits and hospitalizations were compared 2 months before and 2 months after the intervention. Results A statistically significant increase was found in the knowledge of caregivers about the cause, symptoms, and management of the disease. A statistically significant decrease occurred in the number of hospitalizations before and after the intervention but not in the number of visits to the ED. Multiple regression analysis found that none of the background variables were related to knowledge, ED visits, or hospitalizations. Clinical implications Education and written materials written in a simple language that is understood by 5th-graders were beneficial in improving the knowledge of caregivers and in decreasing the number of hospitalizations of children with SCD.
Abstract Pediatric ischemic stroke still represents a burden, and more than half of the survivors will experience cognitive or motor disabilities. The objective of this study was to investigate the ...role of thrombophilia in a cohort of children with arterial ischemic stroke. The records of infants and children with clinically and radiologically confirmed stroke were reviewed. Patients with venous or perinatal stroke were not included. Thirty-three patients were diagnosed with arterial ischemic stroke. The male/female ratio was 1.75:1. The median age was 4 years. The most frequent clinical manifestations were hemiparesis (54.5%) and seizures (33.3%). Genetic thrombophilia testing was available on 24 patients. Nine of the 24 patients (37.5%) were heterozygous for factor V Leiden. None of the patients carried the factor II G20210A variant. Ten patients (41.7%) were heterozygous and 3 (12.5%) were homozygous for methylenetetrahydrofolate reductase (MTHFR) C677T variant. Fifteen patients (62.5%) had one or more genetic polymorphism. Factor V Leiden was significantly associated with arterial ischemic stroke ( P < 0.001). Stroke recurred in 2 children with multiple risk factors and MTHFR C677T mutation. Factor V Leiden is one of the major genetic risk factors for pediatric arterial ischemic stroke in Lebanon. MTHFR C677T was prevalent among patients with recurrent stroke.
A 14-year-old girl was diagnosed with macrophage activation syndrome, based on clinical presentation, laboratory tests, and bone marrow aspirate findings. She developed severe central nervous system ...involvement in the form of seizure disorder and severe diffuse occlusive cerebral vasculopathy, with extensive collateral circulation consistent with moyamoya disease. To our knowledge, this description is the first of these findings in association with macrophage activation syndrome.
Sickle cell disease Ware, Russell E, Dr Prof; de Montalembert, Mariane, MD PhD; Tshilolo, Léon, Prof ...
The Lancet (British edition),
07/2017, Letnik:
390, Številka:
10091
Journal Article
Recenzirano
Summary Sickle cell disease is a common and life-threatening haematological disorder that affects millions of people worldwide. Abnormal sickle-shaped erythrocytes disrupt blood flow in small ...vessels, and this vaso-occlusion leads to distal tissue ischaemia and inflammation, with symptoms defining the acute painful sickle-cell crisis. Repeated sickling and ongoing haemolytic anaemia, even when subclinical, lead to parenchymal injury and chronic organ damage, causing substantial morbidity and early mortality. Currently available treatments are limited to transfusions and hydroxycarbamide, although stem cell transplantation might be a potentially curative therapy. Several new therapeutic options are in development, including gene therapy and gene editing. Recent advances include systematic universal screening for stroke risk, improved management of iron overload using oral chelators and non-invasive MRI measurements, and point-of-care diagnostic devices. Controversies include the role of haemolysis in sickle cell disease pathophysiology, optimal management of pregnancy, and strategies to prevent cerebrovascular disease.
Measurement of cerebral blood velocity (CBV) by transcranial Doppler has been used to identify patients with sickle cell disease (SCD) who are at high risk of ischemic stroke. This study examines ...outcomes of bone marrow transplantation (BMT) and periodic blood transfusion (PBT) as a basis for making treatment recommendations for patients who have elevated CBV and no other indications for BMT. Decision analysis was used to compare the number of quality-adjusted life years (QALYs) experienced by a population of patients with SCD at high risk for stroke who were treated with PBT or BMT. Markov models were constructed to represent the clinical course of patients with SCD who were treated with PBT or BMT. Medical literature and expert opinion provided risks of stroke and death for different disease states, estimates of transition probabilities from one clinical state to another, and quality of life. An intention-to-treat analysis and an analysis of treatment received were both performed on hypothetical cohorts of 100 000 patients. Patients with SCD who were managed with a strategy of intending to provide BMT could expect 16.0 QALYs, compared with 15.7 QALYs for a strategy of intending to provide PBT; however, the variation around these estimates was large. In the treatment received analysis, patients compliant with PBT therapy and iron chelation could expect the best outcomes (19.2 QALYs). From a policy perspective, neither BMT nor PBT can be considered the "best" treatment for children with SCD who have abnormal CBV. Abnormal CBV should not be the only criterion for selecting patients with sickle cell for BMT.
The aims of this study were to describe health care costs and charges for patients with sickle cell disease (SCD) and identify predictors of high use.
Patients with SCD were identified by ...International Classification of Diseases, 9th revision, Clinical Modification (ICD-9-CM) codes from a university hospital's administrative databases from January 1, 1996, to September 30, 1997. Clinical and administrative data were gathered on each patient for all hospital admissions and ambulatory clinic visits. Logistic regression models were used to determine predictors of high health care use.
A total of 947 patients with SCD were identified, 73% of whom resided within three South Carolina counties. On average, there were 0.9 admissions per patient per year and 8.0 outpatient visits per patient per year. Mean inpatient hospital charges, physician charges, and direct hospital costs per admission were $7290, $1589, and $5405, respectively, and the average length of stay was 4.5 days. Mean hospital charges, physician charges, and direct hospital costs per outpatient visit were $305, $169, and $688, respectively. Forty percent of the inpatient hospital charges were accounted for by only 4.2% of the patients. Residing in a distant county and being admitted with a diagnosis of painful respiration were found to be predictors of excessive charges and expenses beyond expected reimbursements.
Patients with SCD are frequent users of health care services. Charges and costs are distributed disproportionately across these patients. Predictors of excessive hospital charges include living geographically distant from the hospital and being admitted with a diagnosis of painful respiration.
