Runel-Belliard, Camille; Lesprit, Emmanuelle; Quinet, Béatrice; Grimprel, Emmanuel
Pediatricians taking care of sickle cell children in France are concerned about giving travel advice. Very few articles are published and no study has been done about it. A lot of pediatricians are using their own experience to decide if sickle cell children can travel abroad. Studying the consequences of such travel for sickle cell children is important to discuss common recommendations. We conducted a prospective study from June 2006 to December 2007 on desires to travel expressed during our consultations with sickle cell children. We studied notable events that occurred during travel and at least 2 months after return. Of 52 desires to travel, 10 were cancelled. All of the 42 trips were to Africa. Median duration of travel was 1.29 months (0.5-3). Median age at travel was 7.6 years (0.2-17.7). Events during travel were two hospitalizations (4.8%), a transfusion (2.4%), and four paramedical or medical examinations (9.6%). After return, four events occurred: two SS children had Plasmodium falciparum malaria (4.8%) and two had digestive bacteremia (4.8%) in SC and Sbeta+ children. No event occurred during plane travel. None of our patients died. The primary risk for sickle cell children traveling to Africa is infection: malaria first and digestive septicemia second. These risks are increased by long travel and poor sanitary conditions. Each travel should be prepared a long time before departure, and each pediatrician should insist on malaria prophylaxis and sanitary conditions, especially for young children. Trips should be shorter than 1 month when possible. A longer prospective study will be done to confirm these results.
Mayo-Gamble, Tilicia L; Barnes, Priscilla A; Cunningham Erves, Jennifer; Middlestadt, Susan E; Lin, Hsien-Chang
This study examined the meaning of sickle cell trait and sickle cell trait screening from the lay perspective of African Americans. African Americans (N = 300), ages 18-35 and unaware of their sickle cell trait status, completed two open-ended questions from a larger survey. One question asked for their understanding of sickle cell trait; the other asked for their understanding of sickle cell trait screening. Content analysis occurred in two phases: (1) In vivo and holistic coding; and (2) focused coding. Four categories emerged illustrating lay conceptions of sickle cell trait; (1) Perceived as an illness; (2) Perceived recognition of the inheritance pattern of sickle cell trait; (3) Perceived lack of knowledge of sickle cell trait; and (4) Perceived importance of sickle cell trait. Five categories emerged illustrating lay conceptions for sickle cell trait screening: (1) Perceived recognition that screening means getting tested for sickle cell trait; (2) Perceived lack of knowledge of sickle cell trait screening; (3) Perceived health benefit of sickle cell trait screening; (4) Perceived importance of sickle cell trait screening; and (5) Perceived barriers to sickle cell trait screening. Sickle cell trait and sickle cell trait screening are concepts that are both regarded as important among this high-risk population. However, there is still misunderstanding concerning the hereditary nature and reproductive implications of sickle cell trait. Interventions seeking to improve communication on the need for sickle cell trait screening should begin by identifying what the population at large understands, knows and/or believes to improve their ability to make informed health decisions.
Victoria L. Thornton
Full Text Available Introduction: Patients with sickle cell disease (SCD often seek care in emergency departments (EDs for severe pain. However, there is evidence that they experience inaccurate assessment, suboptimal care, and inadequate follow-up referrals. The aim of this project was to 1 explore the feasibility of applying a failure modes, effects and criticality analysis (FMECA in two EDs examining four processes of care (triage, analgesic management, high risk/high users, and referrals made for patients with SCD, and 2 report the failures of these care processes in each ED. Methods: A FMECA was conducted of ED SCD patient care at two hospitals. A multidisciplinary group examined each step of four processes. Providers identified failures in each step, and then characterized the frequency, impact, and safeguards, resulting in risk categorization. Results: Many “high risk” failures existed in both institutions, including a lack of recognition of high-risk or high-user patients and a lack of emphasis on psychosocial referrals. Specific to SCD analgesic management, one setting inconsistently used existing analgesic policies, while the other setting did not have such policies. Conclusion: FMECA facilitated the identification of failures of ED SCD care and has guided quality improvement activities. Interventions can focus on improvements in these specific areas targeting improvements in the delivery and organization of ED SCD care. Improvements should correspond with the forthcoming National Heart, Lung and Blood-sponsored guidelines for treatment of patients with sickle cell disease. [West J Emerg Med. 2014;15(4:446–458.
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Brodsky, Max A; Rodeghier, Mark; Sanger, Maureen; Byrd, Jeannie; McClain, Brandi; Covert, Brittany; Roberts, Dionna O; Wilkerson, Karina; DeBaun, Michael R; Kassim, Adetola A
Readmission to the hospital within 30 days is a measure of quality care; however, only few modifiable risk factors for 30-day readmission in adults with sickle cell disease are known. We performed a retrospective review of the medical records of adults with sickle cell disease at a tertiary care center, to identify potentially modifiable risk factors for 30-day readmission due to vasoocclusive pain episodes. A total of 88 patients ≥18 years of age were followed for 3.5 years between 2010 and 2013, for 158 first admissions for vasoocclusive pain episodes. Of these, those subsequently readmitted (cases) or not readmitted (controls) within 30 days of their index admissions were identified. Seven risk factors were included in a multivariable model to predict readmission: age, sex, hemoglobin phenotype, median oxygen saturation level, listing of primary care provider, type of health insurance, and number of hospitalized vasoocclusive pain episodes in the prior year. Mean age at admission was 31.7 (18-59) years; median time to readmission was 11 days (interquartile range 20 days). Absence of a primary care provider listed in the electronic medical record (odds ratio 0.38; 95% confidence interval, 0.16-0.91; P = .030) and the number of vasoocclusive pain episodes requiring hospitalization in the prior year were significant risk factors for 30-day readmission (odds ratio 1.30; 95% confidence interval, 1.16-1.44; P readmission rate in adults with sickle cell disease. Copyright © 2017 Elsevier Inc. All rights reserved.
Machado, Roberto F; Hildesheim, Mariana; Mendelsohn, Laurel; Remaley, Alan T; Kato, Gregory J; Gladwin, Mark T
Epidemiological studies support a hypothesis that pulmonary hypertension (PH) is a common complication of sickle cell disease (SCD) that is associated with a high risk of death and evolves as a complication of haemolytic anaemia. This fundamental hypothesis has been recently challenged and remains controversial. In order to further test this hypothesis in a large and independent cohort of SCD patients we obtained plasma samples from the Cooperative Study of Sickle Cell Disease (CSSCD) for analysis of a biomarker, N-terminal-pro brain natriuretic peptide (NT-proBNP), which is elevated in the setting of pulmonary arterial and venous hypertension. A NT-pro-BNP value previously identified to predict PH in adults with SCD was used to determine the association between the risk of mortality in 758 CSSCD participants (428 children and 330 adults). An abnormally high NT-proBNP level ≥160ng/l was present in 27·6% of adult SCD patients. High levels were associated with markers of haemolytic anaemia, such as low haemoglobin level (P<0·001), high lactate dehydrogenase (P<0·001), and high total bilirubin levels (P<0·007). A NT-proBNP level ≥160ng/l was an independent predictor of mortality (RR 6·24, 95% CI 2·9-13·3, P<0·0001). These findings provide further support for an association between haemolytic anaemia and cardiovascular complications in this patient population. © 2011 Blackwell Publishing Ltd.
Jung, Josephine Misun; Peddinti, Radhika
Lead toxicity is the result of lead ingestion, one of the most common ingestions in the pediatric population. Nationwide and statewide efforts to recognize and curtail this epidemic have led to declining rates of toxicity. In patients with sickle cell disease (SCD), lead toxicity can be an elusive diagnosis due to overlapping symptom profiles, and inconsistent follow-up with a primary care physician can make the diagnosis even more difficult. In this article, two illustrative cases of lead toxicity in patients with SCD are described. The discussion reviews the current risk factors, screening, and inpatient management of lead toxicity, as well as describing the unique and sometimes confounding presentations of lead toxicity versus sickle cell crisis. [Pediatr Ann. 2018;47(1):e36-e40.]. Copyright 2018, SLACK Incorporated.
Berghs, Maria; Dyson, Simon M; Atkin, Karl
Connecting theoretical discussion with empirical qualitative work, this article examines how sickle cell became a site of public health intervention in terms of 'racialised' risks. Historically, sickle cell became socio-politically allied to ideas of repair, in terms of the state improving the health of a neglected ethnic minority population. Yet, we elucidate how partial improvements in care and education arose alongside preventative public health screening efforts. Using qualitative research based in the United Kingdom, we show how a focus on collective efforts of repair can lie in tension with how services and individuals understand and negotiate antenatal screening. We illustrate how screening for sickle cell disorder calls into question narrative identity, undoing paradigms in which ethnicity, disablement and genetic impairment become framed. Research participants noted that rather than 'choices', it is 'risks' and their negotiation that are a part of discourses of modernity and the new genetics. Furthermore, while biomedical paradigms are rationally and ethically (de)constructed by participants, this was never fully engaged with by professionals, contributing to overall perception of antenatal screening as disempowering and leading to disengagement.
Hussein, Norita; Weng, Stephen F; Kai, Joe; Kleijnen, Jos; Qureshi, Nadeem
Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review. To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 20 June 2017.Date of latest search of all other sources: 16 November 2017. Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle
Al-Rimawi, Hala; Jallad, Samer
Adolescents with blood diseases should be encouraged to participate in exercise. Physical activity helps to build stronger muscles, to give better support to the joints, and to improve the patient's overall health and fitness. It also improves emotional well being by improving self-esteem and providing social interaction. Sports and exercise in sickle cell anemia and sickle cell trait need special consideration. Young athletes with sickle cell disease are at high risk of dehydration, heat-related injury, exhaustion, painful episodes, and hip joint problems. Gradual acclimatization to heat, humidity and high altitude, slow conditioning over weeks and avoidance of dehydration are recommended for all adolescents with sickle cell disease to make their sport activity safe. Effort should be made to educate those with sickle cell disease that their condition is not a handicap and that they are fit to lead a normal life.
Lobo, Clarisse Lopes de Castro; do Nascimento, Emilia Matos; Abelha, Renato; Queiroz, Ana Maria Mach; Connes, Philippe; Cardoso, Gilberto Perez; Ballas, Samir K
This study was a prospective cross-sectional cohort study of 125 patients with sickle cell anemia (SS) between the ages of 16 to 60 years. Enrolled patients were followed-up prospectively for 15 months. Demographic, clinical, hematological and routine biochemical data were obtained on all patients. Six-minute walk test and Doppler Echocardiography were performed on all patients. A tricuspid regurgitant jet velocity (TRJV) 3.0 m/sec, severe. Patients with abnormal TRJV were significantly older and more anemic, had significantly higher lactate dehydrogenase (LDH) levels, reticulocyte count and incidence of death. The logistic multimodal model implemented for the 125 patients indicated that age was the covariate that influenced the outcome of normal or abnormal TRJV with a cutoff age of thirty-two years. The survival rate for the group of patients with creatinine (Cr) > 1.0 mg/dL was lower than the group with Cr ≤ 1 and normal TRJV. A coefficient matrix showed that the LDH values were weakly correlated with the reticulocyte count but strongly correlated with hemoglobin suggesting that the TRJV values were not correlated with the hemolytic rate but with anemia. Ten patients died during the follow-up of whom 7 had TRJV > 2.5 m/sec. Acute chest syndrome was the most common cause of death followed by sepsis. In conclusion, this study shows that patients with SS older than thirty-two years with high LDH, elevated TRJV, severe anemia and Cr > 1 have poor prognosis and may be at risk of having pulmonary hypertension and should undergo RHC.
Clarisse Lopes de Castro Lobo
Full Text Available This study was a prospective cross-sectional cohort study of 125 patients with sickle cell anemia (SS between the ages of 16 to 60 years. Enrolled patients were followed-up prospectively for 15 months. Demographic, clinical, hematological and routine biochemical data were obtained on all patients. Six-minute walk test and Doppler Echocardiography were performed on all patients. A tricuspid regurgitant jet velocity (TRJV 3.0 m/sec, severe. Patients with abnormal TRJV were significantly older and more anemic, had significantly higher lactate dehydrogenase (LDH levels, reticulocyte count and incidence of death. The logistic multimodal model implemented for the 125 patients indicated that age was the covariate that influenced the outcome of normal or abnormal TRJV with a cutoff age of thirty-two years. The survival rate for the group of patients with creatinine (Cr > 1.0 mg/dL was lower than the group with Cr ≤ 1 and normal TRJV. A coefficient matrix showed that the LDH values were weakly correlated with the reticulocyte count but strongly correlated with hemoglobin suggesting that the TRJV values were not correlated with the hemolytic rate but with anemia. Ten patients died during the follow-up of whom 7 had TRJV > 2.5 m/sec. Acute chest syndrome was the most common cause of death followed by sepsis. In conclusion, this study shows that patients with SS older than thirty-two years with high LDH, elevated TRJV, severe anemia and Cr > 1 have poor prognosis and may be at risk of having pulmonary hypertension and should undergo RHC.
de Montalembert, Mariane; Ferster, Alina; Colombatti, Raffaella; Rees, David C; Gulbis, Beatrice
Universal neonatal screening is performed in the United States, England, the Netherlands, and several cities in Belgium, with selective screening targeted on "high-risk" population in France (globally, one quarter of all the babies born in France are screened). Newborns diagnosed with a major sickle cell syndrome (SCD) should be referred to a designated pediatric sickle cell centre, and the parents are informed that their child has SCD; this may be in the sickle cell centre by an expert physician or in the community by an experienced nurse counsellor. The pediatric sickle cell centre should organize the care of the baby.
Bernaudin, Françoise; Verlhac, Suzanne; Arnaud, Cécile; Kamdem, Annie; Vasile, Manuela; Kasbi, Florence; Hau, Isabelle; Madhi, Fouad; Fourmaux, Christine; Biscardi, Sandra; Epaud, Ralph; Pondarré, Corinne
Early transcranial Doppler (TCD) screening of the Créteil sickle cell anemia (SCA)-newborn cohort, and rapid initiation of transfusion programs, resulted in successful prevention of overt strokes, but a high cumulative risk of silent cerebral infarcts (SCI) remained, suggesting that TCD screening does not identify all patients with SCA at risk for SCI. We hypothesized that episodes of hypoperfusion/hypoxia, as observed during acute chest syndromes or acute anemic events (AAE), and extracranial internal carotid artery (eICA) stenoses, detectable via submandibular Doppler sonography and cervical magnetic resonance angiography (MRA), could also be risk factors for SCI. This study includes 189 stroke-free patients with SCA from the Créteil newborn cohort (1992-2010) followed longitudinally by magnetic resonance imaging/MRA, including cervical MRA at the last assessment. All patients with abnormal TCD and/or intracranial stenoses were placed on a transfusion program. Mean follow-up was 9.9 years (range, 2.2-19.9 years; 1844 patient-years). Annual rates of clinical events were calculated. The cumulative risk for SCI was 39.1% (95% confidence interval [CI], 23.5%-54.7%) by age 18 years, with no plateau. We confirm that baseline hemoglobin level lower than 7 g/dL before age 3 years is a highly significant predictive risk factor for SCI (hazard ratio, 2.97; 95% CI, 1.43-6.17; P = .004). Furthermore, we show that AAE rate (odds ratio, 2.64 per unit increase; 95% CI, 1.09-6.38; P = .031) and isolated eICA stenosis (odds ratio, 3.19; 95% CI, 1.18-8.70; P = .023) are significant and independent risk factors for SCI. © 2015 by The American Society of Hematology.
Effmann, E.L.; Podolak, M.; Kinney, T.; Hedlund, L.
Since deoxygenated sickled erythrocytes in vitro align in magnetic fields, the safety of MR imaging of patients with sickle cell anemia is questionable. To determine possible effects of high magnetic fields on blood flow in vivo, the authors used laser Doppler velocimetry to measure capillary blood flow from the forearm of five patients and three control subjects during exposure to a 1.5-T field. They found no significant differences (P<.15) between cutaneous blood flow measured outside and inside the magnet bore in either controls or patients not in crisis. While their results do not preclude the presence of effects in other capillary systems in sickle cell anemia patients in crisis, they do suggest that exposure to a 1.5-T field does not produce detectable flow changes in one microcirculatory bed
Liem, Robert I; Chan, Cheeling; Vu, Thanh-Huyen T; Fornage, Myriam; Thompson, Alexis A; Liu, Kiang; Carnethon, Mercedes R
The contribution of sickle cell trait (SCT) to racial disparities in cardiopulmonary fitness is not known, despite concerns that SCT is associated with exertion-related sudden death. We evaluated the association of SCT status with cross-sectional and longitudinal changes in fitness and risk for hypertension, diabetes, and metabolic syndrome over the course of 25 years among 1995 African Americans (56% women, 18-30 years old) in the Coronary Artery Risk Development in Young Adults (CARDIA) study. Overall, the prevalence of SCT was 6.8% (136/1995) in CARDIA, and over the course of 25 years, 46% (738/1590), 18% (288/1631), and 40% (645/1,611) of all participants developed hypertension, diabetes, and metabolic syndrome, respectively. Compared with participants without SCT, participants with SCT had similar baseline measures of fitness in cross-section, including exercise duration (535 vs 540 seconds; P = .62), estimated metabolic equivalent of tasks (METs; 11.6 vs 11.7; P = .80), maximum heart rate (174 vs 175 beats/min; P = .41), and heart rate at 2 minutes recovery (44 vs 43 beats/min; P = .28). In our secondary analysis, there was neither an association of SCT status with longitudinal changes in fitness nor an association with development of hypertension, diabetes, or metabolic syndrome after adjustment for sex, baseline age, body mass index, fitness, and physical activity. SCT is not associated with reduced fitness in this longitudinal study of young African American adults, suggesting the increased risk for exertion-related sudden death in SCT carriers is unlikely related to fitness. SCT status also is not an independent risk factor for developing hypertension, diabetes, or metabolic syndrome. © 2017 by The American Society of Hematology.
Works, Teresa; Jones, Sasia; Grady, James; Andemariam, Biree
This article describes the impact of the integration of a licensed clinical social worker (LCSW) with expertise in behavioral health on identification of risk factors for chronic pain in a cohort of adults with sickle cell disease. Authors conducted a retrospective chart review of all visits to the adult sickle cell center during the first six months of LCSW integration. Demographics, clinical history, and LCSW notes were reviewed. Overall, 71 patients were introduced to the LCSW; 55 percent of them had chronic pain. Patients with chronic pain were older, used opioids daily, took hydroxyurea, reported higher daily pain scores, and underwent more acute care visits and hospitalizations for pain with longer stays. Fifty-eight (81 percent) patients requested concrete social work services such as transportation and housing. Thirty-two patients (55 percent) expressed a desire for mental health counseling while receiving concrete services. Twenty-two (69 percent) of these patients self-disclosed at least one traumatic experience. In fact, a statistically significant relationship between chronic pain and a history of trauma was identified (p = 0.001). Results suggest that sickle cell patients should receive clinical social work services to assess for traumatic exposures that may influence chronic pain.
Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali
Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia.
Full Text Available Renal involvement in patients with sickle cell disease (SCD is associated with signi-ficant morbidity and mortality. Proteinuria is common in patients with SCD and is a risk factor for future development of renal failure. We sought to identify risk factors, if any, associated with pro-teinuria in adult Saudi patients with SCD. We studied 67 patients with SCD followed-up at the King Khalid University Hospital, Riyadh, Saudi Arabia. All patients underwent 24-hour urine collection to measure creatinine clearance and to quantify proteinuria. In addition, blood was examined for evaluation of hematological and biochemical parameters. Clinical information was gathered from review of the patients′ charts. A urine protein level of more than 0.150 grams/24 hours was consi-dered abnormal. Urine protein was correlated with various clinical and laboratory parameters. Thirty-one males and 36 females were evaluated. The mean age of the cohort was 23.8 (± 7.2 years. Twenty-seven patients (40.3% had proteinuria of more than 0.150 grams/24 hours. The study group had a mean hemoglobin level of 8.5 (± 2.8 g/dL and mean fetal hemoglobin (HbF level of 14.4% (± 7.3%. Majority of the patients (61 had hemoglobin SS genotype and six patients had S-β0 thala-ssemia. None of the parameters evaluated correlated with proteinuria although there was a border-line association with older age and higher systolic blood pressure (P = 0.073 and 0.061 respec-tively. Hydroxyurea use for more than a year was not beneficial. In conclusion, our study suggests that proteinuria in adult Saudi patients is not associated with any clear identifiable risk factors.
Bello, J.A.; Pavlakis, S.G.; Prohovnik, I.; Hilal, S.K.; De Vivo, D.C.
Stroke is a well-known but understudied complication of sickle cell disease (SCD). The authors have studied the incidence and patterns of clinical and subclinical stroke in 73 SCD patients. The patients underwent formal neurologic evaluation and high-field strength, heavily T2-weighted axial cranial MR imaging (TR = 3,500 msec, TE = 80 msec). Eighteen of the 73 patients had clinical strokes, acute, nonconvulsive neurologic events with lateralizing neurological signs lasting 1 hour. All but two of these patients demonstrated focal MR imaging abnormalities. The remaining 55 patients were controls. Ten percent of them had focal MR imaging abnormalities suggesting subclinical stroke. A feature of the SCD population is the preponderance of strokes in the distal field and watershed distribution
Daniela Laranja Gomes Rodrigues
Full Text Available ABSTRACT Transcranial doppler (TCD is a strategic component of primary stroke prevention in children with sickle cell disease (SCD. This study was conducted to examine the TCD characteristics of children with SCD in nine different medical centers in Brazil. Methods: Transcranial doppler was performed in accordance with the Stroke Prevention Trial in Sickle Cell Anemia Protocol. Results: Of the 396 patients, 69.5% had homozygous SS hemoglobin. The TCD result was abnormal in 4.8%, conditional in 12.6%, inadequate in 4.3% and abnormally low in 1% of patients. The highest mean flow velocities were 121±23.83cm/s and 124±27.21cm/s in the left and right middle cerebral artery respectively. A total of 28.8% patients (mean age 9.19±5.92 years were evaluated with TCD for the first time. Conclusions: The SCD patients were evaluated with TCD at an older age, representing an important missed opportunity for stroke prevention. Since TCD screening in patients with SCD is important to detect those at high risk for stroke, it is recommended that this screening should be made more readily available.
Kadima, Bertin Tshimanga; Gini-Ehungu, Jean Lambert; Mbutiwi, Fiston Ikwa Ndol; Bahati, John Tunda; Aloni, Michel Ntetani
In the Democratic Republic of Congo, the incidence of sickle cell anemia (SCA) is estimated around 40 000 neonates per year. However, it is notoriously difficult to perform conventional electrophoresis in all hospitals and laboratories, especially at peripheral levels and rural area. A panel of multiple clinical and laboratory features that would enhance sickle cell disease were assessed for the detection of the disease in highly resource-scarce settings. A prospective study was conducted in Kinshasa. Venous blood samples were drawn from each study participant in order to determine the hematologic parameters, the peripheral smears, and the hemoglobin electrophoresis. We used Cohen's κ statistic to examine the agreement of each variable and diagnosis of sickle cell disease. A total of 807 patients were screened for sickle cell disease. Among these 807 children, 36 (4.5%) were homozygous for Hb S disease. The presence of at least 8% erythroblasts (PPV: 91%, NPV: 99%, sensitivity: 83.3%, specificity: 99.6%, κ value: .86) and sickle cells (PPV:100%, NPV: 98%, sensitivity: 50%, specificity: 100%, κ value: .66) in the peripheral blood smear had an acceptable agreement for sickle cell disease. These two biological markers may guide the clinician in the decision-making to initiate the management of the children as a sickle cell patient, pending confirmation of the disease by electrophoresis techniques. © 2017 Wiley Periodicals, Inc.
van der Land, Veronica; Mutsaerts, Henri J. M. M.; Engelen, Marc; Heijboer, Harriët; Roest, Mark; Hollestelle, Martine J.; Kuijpers, Taco W.; Nederkoorn, Paul J.; Cnossen, Marjon H.; Majoie, Charles B. L. M.; Nederveen, Aart J.; Fijnvandraat, Karin
Sickle cell disease (SCD) is complicated by silent cerebral infarcts, visible as white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI). Both local vaso-occlusion, elicited by endothelial dysfunction, and insufficiency of cerebral blood flow (CBF) have been proposed to be involved
Full Text Available Objective: To define frequency and risk factors of abnormalities in growth, puberty, thyroid function, and bone and carbohydrate metabolisms in children and adolescents with sickle cell disease (SCD. Materials and Methods: Endocrine problems including short stature, puberty and thyroid disorders, and carbohydrate and bone metabolisms in 50 Turkish children and adolescents with SCD were evaluated. Relationships among sex, disease type, blood transfusions, exchange and exacerbation frequency, ferritin levels, and endocrine pathologies were investigated. Results: The mean age of the study group was 13.1±2.9 years. Weights and heights of 12 participants (24% were below -2 standard deviations and 4 participants (8% had malnutrition. Mean difference (±standard deviation between bone and chronological age of patients was -1.73±1.86 years. Fifty percent of patients had at least one endocrine abnormality other than vitamin D deficiency and insufficiency. Hypergonadotropic hypogonadism in 3 patients (6%, hypogonadotropic hypogonadism in 1 female patient (2%, and small testicular volume in respect to age in 3 male patients (8.5% were seen. Growth hormone deficiency was detected in 1 (2% female patient, and hypothyroidism was diagnosed in 3 patients (6%; 1 central case, 2 cases of primary hypothyroidism. At vertebral level, 5 patients (11.1% had osteopenia and 1 patient (2.2% had osteoporosis, while 5 patients (11.1% had osteopenia at femur neck level. The most common endocrine abnormality was vitamin D deficiency. 25-Hydroxyvitamin D was deficient in 63.2% and insufficient in 18.4% of patients. Sex, disease type, blood transfusion frequency, exacerbation frequency, and ferritin levels were not related to endocrine pathologies. As the age was increased, standard deviation scores of femur neck bone mineral density was decreased (r =-0.56; p<0.05. Vitamin D was lower in patients whose weights and/or heights were below -2 standard deviations from the mean
Arteta, Manuel; Campbell, Andrew; Nouraie, Mehdi; Rana, Sohail; Onyekwere, Onyinye; Ensing, Gregory; Sable, Craig; Dham, Niti; Darbari, Deepika; Luchtman-Jones, Lori; Kato, Gregory J.; Gladwin, Mark T.; Castro, Oswaldo L.; Minniti, Caterina P.; Gordeuk, Victor R.
Obstructive and restrictive pulmonary changes develop in children with sickle cell disease, but reports conflict as to the type of change that predominates. We prospectively performed spirometry, plethysmography and lung diffusing capacity in 146 children aged 7–20 years with hemoglobin SS or Sβ0-thalassemia. Nineteen percent of the patients had obstructive physiology as defined according to guidelines of the American Thoracic Society. In addition, 9% had restrictive physiology and 11% had ab...
Context: Premarital haemoglobin screening is an important strategy for the control of Sickle Cell Disease. Aims: To determine the prevalence and pattern of sickle cell disease among premarital couples and to assess their attitude to the risk of sickle cell anaemia in their offspring. Settings and Design: A cross sectional ...
Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease ... Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells ...
Mager, Amy; Pelot, Kristin; Koch, Kathryn; Miller, Lawrence; Hubler, Collin; Ndifor, Anisah; Coan, Canice; Leonard, Cynthia; Field, Joshua J
A subset of adults with sickle cell disease (SCD) heavily utilizes the emergency department (ED) and hospital. The objective of our study was to determine the efficacy of a multidisciplinary strategy to address unmet needs in highly utilizing adults with SCD. In a prospective study, adults with SCD with ≥10 admissions per year were assessed by a multidisciplinary team for gaps in medical, social, and psychological care. Thereafter, the team decided upon the subject's predominant domain that drove admissions and instituted an interventional plan. All plans included an opioid management strategy. Preintervention and postintervention admission rate, as well as opioid use, was compared. Twelve subjects were enrolled. Median rate of ED and hospital admissions preintervention was 25 per year. The predominant domains identified were social needs (n = 6), psychological disorder (n = 1), and substance use disorder (n = 5). Multifaceted interventional plans were developed to address a wide range of gaps in care, but an opioid management strategy was the only intervention successfully completed. Even so, when the preintervention versus postintervention admission rate was compared, regardless of the domain, there was a 40 percent decline in hospital admissions (p = 0.03). Consistent with the successful implementation of an opioid management plan, the decrease in admissions was accompanied by a 37 percent decrease in intravenous opioid use (p = 0.02) and 10 percent decrease in oral opioid use (p = 0.04). An opioid management strategy, as part of a larger effort to improve care for high-utilizing adults with SCD, decreased rate of admissions and opioid use.
Scott Paul J
Full Text Available Abstract Background Asthma and sickle cell disease are common conditions that both may result in pulmonary complications. We hypothesized that children with sickle cell disease with concomitant asthma have an increased incidence of vaso-occlusive crises that are complicated by episodes of acute chest syndrome. Methods A 5-year retrospective chart analysis was performed investigating 48 children ages 3–18 years with asthma and sickle cell disease and 48 children with sickle cell disease alone. Children were matched for age, gender, and type of sickle cell defect. Hospital admissions were recorded for acute chest syndrome, cerebral vascular accident, vaso-occlusive pain crises, and blood transfusions (total, exchange and chronic. Mann-Whitney test and Chi square analysis were used to assess differences between the groups. Results Children with sickle cell disease and asthma had significantly more episodes of acute chest syndrome (p = 0.03 and cerebral vascular accidents (p = 0.05 compared to children with sickle cell disease without asthma. As expected, these children received more total blood transfusions (p = 0.01 and chronic transfusions (p = 0.04. Admissions for vasoocclusive pain crises and exchange transfusions were not statistically different between cases and controls. SS disease is more severe than SC disease. Conclusions Children with concomitant asthma and sickle cell disease have increased episodes of acute chest syndrome, cerebral vascular accidents and the need for blood transfusions. Whether aggressive asthma therapy can reduce these complications in this subset of children is unknown and requires further studies.
Ahmed, Sagir G; Kagu, Modu B; Ibrahim, Umma A; Bukar, Audu A
The non-O blood group is an established risk factor for deep vein thrombosis (DVT), while controversy surrounds the role of sickle cell trait (SCT) as a risk factor for DVT. We hypothesised that if SCT is a risk factor for DVT, individuals with non-O blood groups and SCT (Hb AS) would have a higher risk of DVT than their counterparts with non-O blood groups and normal haemoglobin phenotype (Hb AA). We retrospectively analysed the prevalence of SCT and non-O blood groups among 148 DVT patients with control subjects in order to determine the role of SCT as a risk factor for DVT and its impact on the risk of DVT among patients with non-O blood groups. In comparison with control subjects, DVT patients had significantly higher prevalences of SCT (35.1% vs 27.7%, p=0.04) and non-O blood groups (68.9% vs 45.9%, p=0.02). The odds ratios for DVT due to SCT, non-O blood groups with normal Hb phenotype (Hb AA) and non-O blood groups with SCT (Hb AS) were 1.3, 2.4 and 3.5, respectively. These results suggest that SCT by itself is a weak risk factor for DVT but it has the potential of escalating the DVT risk among patients with non-O blood groups. The combined effects of elevated clotting factors (non-O group effect) and increased clotting factor activation (SCT effect) were responsible for the escalated DVT risk among patients with co-inheritance of non-O blood groups and SCT. Co-inheritance of SCT and non-O blood group is, therefore, an important mixed risk factor for DVT. This should be taken into account when assessing DVT risk profiles of patients in Africa and other parts of the world where the SCT is prevalent.
Fasano, Ross M; Meier, Emily R; Hulbert, Monica L
Sickle cell anemia (SCA)-associated cerebral vasculopathy and moyamoya is a unique entity reflecting the abnormal interactions between sickled red blood cells (RBCs) and the cerebral arterial endothelium. Endothelial injury, coagulation activation, and the inflammatory response generated by sickled RBCs are implicated in the development of cerebral vasculopathy, but the pathophysiology remains incompletely understood. SCA-specific screening and treatment guidelines have successfully reduced the incidence of overt strokes in this high-risk population. However, despite aggressive hematological management, many children with cerebral vasculopathy due to SCA have progressive vasculopathy and recurrent strokes; therefore, more effective therapies, such as revascularization surgery and curative hematopoietic stem cell transplant, are urgently needed. Copyright © 2014 Elsevier Inc. All rights reserved.
Howard, Jo; Oteng-Ntim, Eugene
Sickle cell disease (SCD) is the most common inherited disease worldwide and is associated with anaemia and intermittent severe pain. Pregnant women who are affected have increased maternal and fetal mortality and morbidity. In view of this obstetricians should have an awareness of this condition and its complications, and pregnancies in women with SCD should be managed by a multidisciplinary team with experience of high risk pregnancies. Ideally women should be seen preconceptually for optimisation of their SCD and partner screening. Antenatal care should include regular outpatient visits with regular monitoring for pre-eclampsia and of fetal growth. Blood transfusion should be used for the treatment of acute anaemia, acute chest syndrome or acute stroke but there is not sufficient evidence currently to recommend its use prophylactically. There is an increased prevalence of sickle crisis during pregnancy and patients should be monitored carefully throughout this time. Copyright © 2011 Elsevier Ltd. All rights reserved.
Arteta, Manuel; Campbell, Andrew; Nouraie, Mehdi; Rana, Sohail; Onyekwere, Onyinye; Ensing, Gregory; Sable, Craig; Dham, Niti; Darbari, Deepika; Luchtman-Jones, Lori; Kato, Gregory J.; Gladwin, Mark T.; Castro, Oswaldo L.; Minniti, Caterina P.; Gordeuk, Victor R.
Obstructive and restrictive pulmonary changes develop in children with sickle cell disease, but reports conflict as to the type of change that predominates. We prospectively performed spirometry, plethysmography and lung diffusing capacity in 146 children aged 7–20 years with hemoglobin SS or Sβ0-thalassemia. Nineteen percent of the patients had obstructive physiology as defined according to guidelines of the American Thoracic Society. In addition, 9% had restrictive physiology and 11% had abnormal but not categorized physiology. Increasing age, patient- or family-reported history of asthma or wheezing, and higher lactate dehydrogenase concentration were independent predictors of obstruction as reflected in lower FEV1/FVC. In conclusion, abnormal pulmonary function, most often obstructive, is common in children with hemoglobin SS and Sβ0-thalassemia. Full pulmonary function testing should be performed in children with hemoglobin SS or Sβ0 thalassemia, especially with history of asthma or wheezing and accentuated elevations in hemolytic markers. PMID:24309610
Seixas Magda O
Full Text Available Abstract Background The search for sickle cell disease (SCD prognosis biomarkers is a challenge. These markers identification can help to establish further therapy, later severe clinical complications and with patients follow-up. We attempted to study a possible involvement of levels of high-density lipoprotein cholesterol (HDL-C in steady-state children with SCD, once that this lipid marker has been correlated with anti-inflammatory, anti-oxidative, anti-aggregation, anti-coagulant and pro-fibrinolytic activities, important aspects to be considered in sickle cell disease pathogenesis. Methods We prospectively analyzed biochemical, inflammatory and hematological biomarkers of 152 steady-state infants with SCD and 132 healthy subjects using immunochemistry, immunoassay and electronic cell counter respectively. Clinical data were collected from patient medical records. Results Of the 152 infants investigated had a significant positive association of high-density lipoprotein cholesterol with hemoglobin (P Conclusions We hypothesize that some SCD patients can have a specific dyslipidemic subphenotype characterized by low HDL-C with hypertriglyceridemia and high VLDL-C in association with other biomarkers, including those related to inflammation. This represents an important step toward a more reliable clinical prognosis. Additional studies are warranted to test this hypothesis and the probably mechanisms involved in this complex network of markers and their role in SCD pathogenesis.
Mark T Gladwin
Full Text Available The role of pulmonary hypertension as a cause of mortality in sickle cell disease (SCD is controversial.We evaluated the relationship between an elevated estimated pulmonary artery systolic pressure and mortality in patients with SCD. We followed patients from the walk-PHaSST screening cohort for a median of 29 months. A tricuspid regurgitation velocity (TRV≥ 3.0 m/s cuttof, which has a 67-75% positive predictive value for mean pulmonary artery pressure ≥ 25 mm Hg was used. Among 572 subjects, 11.2% had TRV ≥ 3.0 m/sec. Among 582 with a measured NT-proBNP, 24.1% had values ≥ 160 pg/mL. Of 22 deaths during follow-up, 50% had a TRV ≥ 3.0 m/sec. At 24 months the cumulative survival was 83% with TRV ≥ 3.0 m/sec and 98% with TRV 47 years, male gender, chronic transfusions, WHO class III-IV, increased hemolytic markers, ferritin and creatinine were also associated with increased risk of death.A TRV ≥ 3.0 m/sec occurs in approximately 10% of individuals and has the highest risk for death of any measured variable. The study is registered in ClinicalTrials.gov with identifier: NCT00492531.
Enrico M Novelli
Full Text Available A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse pressure, unlike other blood pressure parameters, is independently associated with markers of hemolytic anemia and cardiovascular risk in sickle cell disease. We analyzed the correlates of pulse pressure in patients (n = 661 enrolled in a multicenter international sickle cell trial. Markers of hemolysis were analyzed as independent variables and as a previously validated hemolytic index that includes multiple variables. We found that pulse pressure, not systolic, diastolic or mean arterial pressure, independently correlated with high reticulocyte count (beta = 2.37, p = 0.02 and high hemolytic index (beta = 1.53, p = 0.002 in patients with homozygous sickle cell disease in two multiple linear regression models which include the markers of hemolysis as independent variables or the hemolytic index, respectively. Pulse pressure was also independently associated with elevated serum creatinine (beta = 3.21, p = 0.02, and with proteinuria (beta = 2.52, p = 0.04. These results from the largest sickle cell disease cohort to date since the Cooperative Study of Sickle Cell Disease show that pulse pressure is independently associated with hemolysis, proteinuria and chronic kidney disease. We propose that high pulse pressure may be a risk factor for clinical complications of vascular dysfunction in sickle cell disease. Longitudinal and mechanistic studies should be conducted to confirm these hypotheses.
Gutiérrez Díaz, A I; Svarch, E; Arencibia Núñez, A; Sabournin Ferrier, V; Machín García, S; Menendez Veitía, A; Ramón Rodriguez, L; Serrano Mirabal, J; García Peralta, T; López Martin, L G
Total splenectomy in sickle cell disease is related to a high risk of fulminant sepsis and increased incidence of other events, which have not been reported in patients with partial splenectomy. In this study we examined the patients with sickle cell disease and partial splenectomy and compared the clinical and laboratory results with non-splenectomized patients. We studied 54 patients with sickle cell disease who underwent partial splenectomy in childhood from 1986 until 2011 at the Institute of Hematology and Immunology. They were compared with 54 non-splenectomized patients selected by random sampling with similar characteristics. Partial splenectomy was performed at a mean age of 4.1 years, with a higher frequency in homozygous hemoglobin S (70.4%), and the most common cause was recurrent splenic sequestration crisis. The most common postoperative complications were fever of unknown origin (14.8%) and acute chest syndrome (11.1%). After splenectomy there was a significant increase in leukocytes, neutrophils, and platelets, the latter two parameters remained significantly elevated when compared with non-splenectomized patients. There was no difference in the incidence of clinical events, except hepatic sequestration, which was more common in splenectomized patients. Partial splenectomy was a safe procedure in patients with sickle cell disease. There were no differences in the clinical picture in children splenectomized and non-splenectomized except the greater frequency of hepatic sequestration crisis in the first group. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.
This thesis is about the disease called sickle cell anemia, or drepanocytosis. In this thesis is described the history of the disease, pathophysiology, laboratory features, various clinical features, diferencial diagnosis, quality of life in sickle cell anemia and therapy.
Alam, M.; Lodhi, M.A.; Khan, D.
Sickle cell disease (SCD) is a common inherited hemoglobin disorder characterized by the presence of sickle shaped erythrocytes in the blood. It can cause stroke in around 10% of children. Repeated blood transfusions are often used in an attempt to dilute blood thus reducing the risk of vaso-occlusion and stroke. We report a case of an 11 years old girl, known patient of sickle cell disease, who did not follow regular blood transfusion protocol and as a result presented with recurrent stroke. (author)
Huttenlocher, P.R.; Moohr, J.W.; Johns, L.; Brown, F.D.
Cerebral blood flow (CBF) has been studied by the xenon-133 ( 133 Xe) inhalation method in 16 children with suspected sickle cell cerebrovascular disease. Abnormalities consisting of decreases in total, hemispheral, or regional CBF were found in 17 of 26 studies. Eleven studies performed immediately after stroke, transient ischemic attack, or depression of state of alertness showed abnormalities. In addition to confirming regional cerebrovascular insufficiency in children with stroke due to major cerebral artery occlusion, the method detected diffuse decrease in CBF in children with stupor, coma, and seizures who had normal angiographic findings. In contrast, six of seven studies obtained after exchange transfusion or during maintenance on hypertransfusion therapy showed normal findings. The difference between results in patients with acute neurologic disturbances and those receiving transfusion therapy was statistically significant (P less than .005). The data indicate that the 133 Xe method reliably demonstrates cerebrovascular impairment in sickle cell disease. They also suggest that CBF changes in patients with sickle cell disease can be reversed by exchange transfusion and by hypertransfusion therapy. The 133 Xe CBF method may be useful for following up children with sickle cell disease who are at high risk for recurrent stroke
Full Text Available Objective. To review issues related to asthma in sickle cell disease and management strategies. Data Source. A systematic review of pertinent original research publications, reviews, and editorials was undertaken using MEDLlNE, the Cochrane Library databases, and CINAHL from 1947 to November 2010. Search terms were [asthma] and [sickle cell disease]. Additional publications considered relevant to the sickle cell disease population of patients were identified; search terms included [sickle cell disease] combined with [acetaminophen], [pain medications], [vitamin D], [beta agonists], [exhaled nitric oxide], and [corticosteroids]. Results. The reported prevalence of asthma in children with sickle cell disease varies from 2% to approximately 50%. Having asthma increases the risk for developing acute chest syndrome , death, or painful episodes compared to having sickle cell disease without asthma. Asthma and sickle cell may be linked by impaired nitric oxide regulation, excessive production of leukotrienes, insufficient levels of Vitamin D, and exposure to acetaminophen in early life. Treatment of sickle cell patients includes using commonly prescribed asthma medications; specific considerations are suggested to ensure safety in the sickle cell population. Conclusion. Prospective controlled trials of drug treatment for asthma in patients who have both sickle cell disease and asthma are urgently needed.
This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.
Kadima, Bertin Tshimanga; Gini Ehungu, Jean Lambert; Ngiyulu, René Makwala; Ekulu, Pépé Mfutu; Aloni, Michel Ntetani
Neonatal screening for sickle cell anaemia is not common practice in the Democratic Republic of Congo, and we determined the prevalence in children with unknown electrophoresis of haemoglobin and anaemia. A cross-sectional study was conducted in four hospitals in the country's capital Kinshasa. We screened 807 patients with anaemia (Hb history of hand foot syndrome, in children who had received more than three transfusions and in children up to 36 months of age at their first transfusion. The high prevalence of sickle cell anaemia in children in Sub-Saharan Africa underlines the need for neonatal screening or, if that is not possible, screening of all children with severe anaemia to identify patients with the disease and provide early management. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.
R A Bolarinwa
Full Text Available Renal abnormalities in adult Nigerians with sickle cell anemia (SCA have not been extensively studied. To determine the prevalence, pattern and the associated risk factors of renal disease, 72 subjects with SCA from two centers in the southwestern Nigeria were investigated. Socio-demographic data, body mass index and clinical findings were documented. The urine analysis, serum bio-chemistry, hemogram and renal factors attributable to SCA were determined. Presence of albuminuria of at least 1+ or microalbuminuria in those negative with dipstick; and the estimated glomerular filtration rate (eGFR using the Cockcroft-Gault formula categorized subjects to various stages of chronic kidney disease (CKD. Subjects with and without albuminuria were compared to determine the relative risk associated with renal disease. Four (5.6% subjects had macro-albuminuria, while 32 (44.4% had micro-albuminuria and 30 (41.7% had hemoglobinuria. In the subjects with albuminuria, age, hematocrit, systolic blood pressure, serum creatinine, urea and creatinine clearance were numerically higher while the eGFR was numerically lower. There was no significant difference in the clinical parameters studied in the two groups of subjects. The diastolic blood pressure was significantly higher in the albuminuric group. Based on eGFR, 22 (30.6% subjects had hyperfiltration (GFR > 140 mL/min/1.73 m2, of whom 36.4% had albuminuria, 18 (25.0% had stage 1 CKD, 30 (41.7% had stage 2 CKD and two (2.7% subjects had stage 3 CKD with albuminuria. None had stage 4 and 5 CKD. We conclude that renal abnormalities, importantly albuminuria, is common in adult Nigerians with SCA and the pattern and incidence are similar to those reported from other parts of the world. Regular blood pressure monitoring, early diagnosis and active intervention are advocated to delay progression to end-stage kidney disease in view of poor outcomes of renal replacement therapy in SCA patients with nephropathy.
Mulimani, Priti; Ballas, Samir K; Abas, Adinegara B L; Karanth, Laxminarayan
Sickle cell disease is the most common single gene disorder and the commonest haemoglobinopathy found with high prevalence in many populations across the world. Management of dental complications in people with sickle cell disease requires special consideration for three main reasons. Firstly, dental and oral tissues are affected by the blood disorder resulting in several oro-facial abnormalities. Secondly, living with a haemoglobinopathy and coping with its associated serious consequences may result in individuals neglecting their oral health care. Finally, the treatment of these oral complications must be adapted to the systemic condition and special needs of these individuals, in order not to exacerbate or deteriorate their general health.Guidelines for the treatment of dental complications in this population who require special care are unclear and even unavailable in many aspects. Hence this review was undertaken to provide a basis for clinical care by investigating and analysing the existing evidence in the literature for the treatment of dental complications in people with sickle cell disease. To assess methods of treating dental complications in people with sickle cell disease. We searched the Cochrane Haemoglobinopathies Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books.Date of last search: 11 April 2016.Additionally, we searched nine online databases (PubMed, Google Scholar, ClinicalTrials.gov, WHO International Clinical Trials Registry Platform, Literature in the Health Sciences in Latin America and the Caribbean database, African Index Medicus, Index Medicus for South East Asia Region, Index Medicus for the Eastern Mediterranean Region, Indexing of Indian Medical Journals). We also searched the reference lists of relevant articles and reviews and contacted haematologists, experts in fields of dentistry, organizations, pharmaceutical companies and researchers working in this field
Full Text Available Sickle cell anemia is an inherited hemoglobin disorder characterized by substitution of glutamic acid by valine at the sixth position of the beta globin chain. The sequence of events leads to pain crisis. Ischemia of the tissues resulting from decreased blood flow is believed to occur in pain crisis. Repeated or prolonged sickling causes red cell death in the form of hemolytic anemia. The majority of hospital admissions are due to painful crisis. These patients are at increased risk for both osteomyelitis and infarction of the long bones. Magnetic resonance imaging has been shown to be helpful in the diagnosis of early osteomyelitis and its differentiation from infarction in sickle cell disease patients with acute bone crisis. Others findings include dactylitis, medullary infarcts, diploic space widening, fish mouth vertebrae, and avascular necrosis. We present a case series on the various musculoskeletal manifestations of sickle cell disease.
Bediako, Shawn M; Moffitt, Kimberly R
Sickle cell disease is perhaps the most racialized condition in the history of modern medicine, yet very little research has focused on how racial perceptions influence social attitudes about the disease. Subsequently, the implications of these perceptions for public health prevention efforts and the provision of clinical care are not well known. In this brief commentary, we posit that social cognitive and media framing theories provide useful approaches for assessing relations between race and social attitudes about sickle cell disease. Such inquiries might lead to more rigorous study of mechanisms that shape perceptions about sickle cell risk, interpersonal empathy toward patients, and public support for sickle cell-related policies.
... cell disease should have regular checkups to detect eye damage. And a simple ultrasound test of the head can identify children at high risk for strokes. Recent Developments Research on bone marrow transplants, gene therapy, and new medicines for sickle cell anemia is ongoing. The hope is that these ...
van der Land, Veronica; Zwanenburg, Jaco J. M.; Fijnvandraat, Karin; Biemond, Bart J.; Hendrikse, Jeroen; Mutsaerts, Henri J. M. M.; Visser, Fredy; Wardlaw, Joanna M.; Nederveen, Aart J.; Majoie, Charles B. L. M.; Nederkoorn, Paul J.
Patients with sickle cell anemia (SCA) are at a high risk to develop cerebral damage. Most common are silent cerebral infarctions (SCIs), visible as white matter hyperintensities (WMHs) on MRI in a patient without neurological deficits. The etiology of SCIs remains largely unclear. In addition,
economy. The World Bank has said that “corruption creates an unfavorable business environment by undermining the operation efficiency of firms and... Bank Began as ‘Ponzi Scheme,’” 11/27/2012. 64 Independent Joint Anti-Corruption Monitoring and Evaluation Committee, Unfinished Business : The Follow...HIGH RISK AREA 7: Oversight 51 HIGH-RISK AREA 8: Strategy and Planning 55 CONCLUSION HIGH RISK LIST I JANUARY 11, 2017 2 EXECUTIVE SUMMARY
Meshikhes, Abdul-Wahed N.
Surgery in patients with sickle cell disease (SCD) has been associated with high morbidity and mortality. In recent years, a marked improvement in the safety of surgery and anesthesia in this high-risk group of patients has been witnessed; owing to the improvements in surgical and anesthetic care, greater awareness of pathophysiology of disease, proper perioperative preparation and attention to factors predisposing to vasoocclusive crises. However, this is not paralleled by similar improvement in countries where the disease is not prevalent. Greater population mobility in recent years makes recognition of surgical manifestations of the disease and awareness of perioperative management of sickle cell patients undergoing surgical interventions of paramount importance. This article aims to summarize steps towards safer surgery in patients with SCD. (author)
Darcielle Bruna Dias Elias
Full Text Available Sickle cell anemia (SCA is a recessively inherited disease characterized by chronic hemolytic anemia, chronic inflammation, and acute episodes of hemolysis. Hydroxyurea (HU is widely used to increase the levels of fetal hemoglobin (HbF. The objective of this study was to standardize and validate a method for the quantification of HU in human plasma by using ultra high performance liquid chromatography (UPLC in order to determine the plasma HU levels in adult patients with SCA who had been treated with HU. We used an analytical reverse phase column (Nucleosil C18 with a mobile phase consisting of acetonitrile/water (16.7/83.3. The retention times of HU, urea, and methylurea were 6.7, 7.7, and 11.4 min, respectively. All parameters of the validation process were defined. To determine the precision and accuracy of quality controls, HU in plasma was used at concentrations of 100, 740, and 1600 µM, with methylurea as the internal standard. Linearity was assessed in the range of 50-1600 µM HU in plasma, obtaining a correlation coefficient of 0.99. The method was accurate and precise and can be used for the quantitative determination of HU for therapeutic monitoring of patients with SCA treated with HU.
S. Christy Sadreameli
Full Text Available Sickle cell disease (SCD is an autosomal recessive hemoglobinopathy that causes significant morbidity and mortality related to chronic hemolytic anemia, vaso-occlusion, and resultant end-organ damage. Tobacco smoke exposure (TSE through secondhand smoke exposure in people with SCD of all ages and through primary smoking in adolescents and adults is associated with significantly increased morbidity, with increased rates of emergency department visits and hospitalizations for painful vaso-occlusive crises and acute chest syndrome (ACS. Secondhand smoke is also associated with pulmonary function abnormalities in children with SCD who are already at risk for pulmonary function abnormalities on the basis of SCD. TSE is emerging as one of the few modifiable risk factors of SCD. This review discusses the current state of the evidence with respect to TSE and SCD morbidity, discusses potential mechanisms, and highlights current gaps in the evidence and future research directions.
Premarital screening for the diagnosis of Sickle Cell Disease is helpful in the prevention of the condition. It provides information about the health of the individual while assessing their health related reproductive risk. To evaluate the level of awareness and acceptability of premarital screening for sickle cell disease amongst ...
Estcourt, Lise J; Fortin, Patricia M; Trivella, Marialena; Hopewell, Sally
ongoing trials identified. These trials were conducted between 1988 and 2011. The majority of people included had haemoglobin (Hb) SS SCD. The majority of surgical procedures were considered low or intermediate risk for developing sickle cell-related complications. Aggressive versus simple red blood cell transfusions One trial (551 participants) compared an aggressive transfusion regimen (decreasing sickle haemoglobin to less than 30%) to a simple transfusion regimen (increasing haemoglobin to 100 g/l). This trial re-randomised participants and therefore quantitative analysis was only possible on two subsets of data: participants undergoing cholecystectomy (230 participants); and participants undergoing tonsillectomy or adenoidectomy surgeries (107 participants). Data were not combined as we do not know if any participant received both surgeries. Overall, the quality of the evidence was very low across different outcomes according to GRADE methodology. This was due to the trial being at high risk of bias primarily due to lack of blinding, indirectness and the outcome estimates being imprecise. Cholecystectomy subgroup results are reported in the abstract. Results for both subgroups were similar. There was no difference in all-cause mortality between people receiving aggressive transfusions and those receiving conservative transfusions. No deaths occurred in either subgroup. There were no differences between the aggressive transfusion group and conservative transfusion group in the number of people developing: an acute chest syndrome, risk ratio 0.84 (95% confidence interval 0.38 to 1.84) (one trial, 230 participants, very low quality evidence);vaso-occlusive crisis, risk ratio 0.30 (95% confidence interval 0.09 to 1.04) (one trial, 230 participants, very low quality evidence);serious infection, risk ratio 1.75 (95% confidence interval 0.59 to 5.18) (one trial, 230 participants, very low quality evidence);any perioperative complications, risk ratio 0.75 (95% confidence
Full Text Available Patients with sickle cell disease have high morbidity and healthcare utilization due to repeated painful crises. Some coexisting conditions which cause pain similar to sickle cell disease may go undiagnosed in these patients. We report two adults with concurrent hyperparathyroidism who experienced significant improvement in sickle cell pain following parathyroidectomy thereby pointing to hyperparathyroidism as the principal causative factor for their pain. Meticulous evaluation for parathyroid disorders can be rewarding in sickle cell disease.
... Safe Videos for Educators Search English Español Sickle Cell Disease KidsHealth / For Parents / Sickle Cell Disease What's ... español Enfermedad de células falciformes What Is Sickle Cell Disease? Sickle cell disease is a condition in ...
... Safe Videos for Educators Search English Español Sickle Cell Crisis (Pain Crisis) KidsHealth / For Teens / Sickle Cell ... drepanocíticas (Crisis de dolor) What Is a Sickle Cell Crisis? Sickle cell disease changes the shape of ...
Turaga, Lalita Prabha; Boddu, Prajwal; Kipferl, Steve; Basu, Anupam; Yorath, Martin
BACKGROUND Myonecrosis is one of the more poorly studied, painful manifestations of sickle cell crisis. Medical literature is sparse detailing the manifestations and management of such symptoms. In myonecrosis, red cells containing sickle hemoglobin become rigid, resulting in reduced blood flow and myonecrosis. CASE REPORT We present a case study of a patient in sickle cell crisis with an episode of acute pain and swelling to the intrinsic muscles of the foot as a prominent feature of the crises. Although muscle biopsy is considered the gold standard for the diagnosis of myositis or myonecrosis, a low intensity signal on T1 and high intensity signal on T2 at the affected muscle belly can be as conclusive as imaging studies. In an actively sickling patient any invasive intervention should be avoided as it can result in ischemic necrosis of the tissues, due to interruption of capillary flow in end-arteries. CONCLUSIONS Early recognition is critical in sickle cell disease management, allowing for prompt and aggressive fluid resuscitation which remains a cornerstone in the management of most sickle cell vaso-occlusive crises. In this instance, off loading the extremity and early fluid resuscitation resolved the pain and swelling and prevented myonecrosis.
... Safe Videos for Educators Search English Español Sickle Cell Disease KidsHealth / For Kids / Sickle Cell Disease What's ... to stay in the hospital. What Causes Sickle Cell Disease? Sickle cell disease is an inherited (say: ...
Kamal E.A. Abdelsalam
Full Text Available Background: Cardiac dysfunctions have been recognized as a common complication of sickle cell anaemia (SCA, and together with pulmonary disorder accounts for many deaths in these patients. However, sickle cell traits appear clinically normal, although they have genetic abnormality. The aim of this study was to assess the effect of sickle cell trait on cardiac prognostic markers by measuring high density lipoprotein (HDL-C, low density lipoprotein (LDL-C, cardiac creatine kinase (CK-MB, ultra-sensitive C reactive protein (us-CRP, total homocysteine (Hyc, and N-terminal pro-brain natriuretic peptide (NT-pro BNP tests in adult Sudanese patients with sickle cell trait.Methods: A cross-sectional study was performed in 200 healthy volunteers as a control group and 200 diagnosed patients with sickle cell trait. It was carried out in Khartoum Specialized Hospital, Al-Bayan Hospital, Obayed Clinical Center and Dr. Nadir Specialized Hospital, Sudan between January 2015 and January 2016. All participants were between 20-32 years old. LDL-C, HDL-C, CK-MB, NT-proBNP and hs-CRP concentrations were measured by Hitachi 912 full-automated Chemistry Analyzer (Roche Diagnostics, Germany as manufacturer procedure, while homocysteine level was measured by ELISA technique using special kit.Results: When compared to control group, the levels of LDL-C, hs-CRP and NT-proBNP revealed significant increase in patients’ sera (p<0.001, while Hyc and CK-MB levels were increased insignificantly in patients with SCT (p=0.069, p=0.054 respectively. On the other hand, comparison to control group, HDL-C showed insignificant reduction in patients (p=0.099.Conclusion: The results suggest that sickle cell trait increased the risk of patient-related complication secondary to cardiac dysfunction.
Knowledge of sickle cell disease among parturiant mothers in Benin City and their attitude to newborn screening. ... Abstract. BACKGROUND; Sickle cell disease is the commonest genetic disorder of the black race. A high ... They were assessed using a pretested questionnaire a sample of which will be shown in the text.
Sickle cell disease, malaria and diabetes are among the diseases plaguing a good population of the developing world and the cost implication for their management is very high. Sickle cell disease and malari have anemia as a common factor and immunological disturbances are also prevalent in these disease conditions.
Doret, Muriel; Gaucherand, Pascal
Antenatal care is aiming to reduce maternal land foetal mortality and morbidity. Maternal and foetal mortality can be due to different causes. Their knowledge allows identifying pregnancy (high risk pregnancy) with factors associated with an increased risk for maternal and/or foetal mortality and serious morbidity. Identification of high risk pregnancies and initiation of appropriate treatment and/or surveillance should improve maternal and/or foetal outcome. New risk factors are continuously described thanks to improvement in antenatal care and development in biology and cytopathology, increasing complexity in identifying high risk pregnancies. Level of risk can change all over the pregnancy. Ideally, it should be evaluated prior to the pregnancy and at each antenatal visit. Clinical examination is able to screen for intra-uterin growth restriction, pre-eclampsia, threatened for preterm labour; ultrasounds help in the diagnosis of foetal morphological anomalies, foetal chromosomal anomalies, placenta praevia and abnormal foetal growth; biological exams are used to screen for pre-eclampsia, gestational diabetes, trisomy 21 (for which screening method just changed), rhesus immunisation, seroconversion for toxoplasmosis or rubeola, unknown infectious disease (syphilis, hepatitis B, VIH). During pregnancy, most of the preventive strategies have to be initiated during the first trimester or even before conception. Prevention for neural-tube defects, neonatal hypocalcemia and listeriosis should be performed for all women. On the opposite, some measures are concerning only women with risk factors such as prevention for toxoplasmosis, rhesus immunization (which recently changed), tobacco complications and pre-eclampsia and intra-uterine growth factor restriction.
Uaprasert, Noppacharn; Settapiboon, Rung; Amornsiriwat, Supaporn; Sarnthammakul, Patsita; Thanapat, Tassanee; Rojnuckarin, Ponlapat; Sutcharitchan, Pranee
Thalassemia syndromes are highly prevalent in Southeast Asia. In Thailand, high performance liquid chromatography (HPLC) is the most common technique routinely performed in diagnosis of thalassemia and hemoglobinopathies, while isoelectric focusing (IEF) is rarely employed. We compared the diagnostic utility of IEF and HPLC in neonatal screening for thalassemia and non-sickling hemoglobinopathies. Two-hundred and forty-one cord blood samples were analyzed using IEF and HPLC, β-thalassemia short program. The results were correlated with red cell indices and molecular analyses. Hemoglobin (Hb) Bart's was quantified only on IEF. Of 241 newborns, IEF and HPLC yielded 85.4% and 76.4% sensitivity to identify α-thalassemia syndrome, respectively. HbBart's≥2% yielded 100% sensitivity to identify 2 α-globin gene deletions and/or mutations, while MCV≤95fl and MCH≤30pg yielded 100% sensitivity to identify 2 α-globin gene deletions. DNA analysis revealed HbE mutation in all 61 subjects with HbA2>1% on both IEF and HPLC. IEF is an effective method in neonatal screening for thalassemia and non-sickling hemoglobinopathies. The HbBart's level, MCV and MCH are helpful for identifying α-thalassemia. The presence of HbA2 higher than 1% in cord blood indicates HbE carriers in Southeast Asian newborns. © 2013.
Kim, Yu-Sok; Nur, Erfan; van Beers, Eduard J.; Truijen, Jasper; Davis, Shyrin C. A. T.; Biemond, Bart J.; van Lieshout, Johannes J.
Background and Purpose-Sickle cell disease (SCD) is associated with cerebral hyperperfusion and an increased risk of stroke. Also, both recurrent microvascular obstruction and chronic hemolysis affect endothelial function, potentially interfering with systemic and cerebral blood flow control. We
Cardio–Pulmonary Response Of Patients With Sickle Cell Anaemia ... any risk of adverse cardio-respiratory response during the course of physical rehabilitation. A total of 70 subjects participated in the study; 30 of these had Haemoglobin ...
... Shizukuda Y, Plehn JF, Minter K, Brown B, Coles WA, Nichols JS, Ernst I, Hunter LA, Blackwelder WC, Schechter AN, Rodgers GP, Castro O, Ognibene FP. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. 2004 Feb 26;350( ...
Bhanushali, Aparna A; Himani, Kumari; Patra, Pradeep K; Das, Bibhu R
The prevalence of sickle cell disease in India is very high. Hb F is one of the most powerful modulators of disease severity in sickle cell disease patients. It was traditionally thought that the disease is milder in Indian sickle cell disease patients predominantly due to the Arab-Indian haplotype characterized by the HBG XmnI [rs7482144 (G>A)] variant, which is associated with increased Hb F levels. In the current study, we investigated the Hb F levels in individuals with the rs10128556 (C>T) variant and also determined its linkage with the HBG XmnI variant. The present study was conducted on a cohort of 275 individuals, which consisted of 221 patients with sickle cell disease and 54 patients with sickle cell trait. Analysis of hemoglobin (Hb) fractions and variants was done on the high performance liquid chromatography (HPLC) system. Genotyping for rs10128556 was done by direct sequencing of the products. Mean Hb F levels in the sickle cell disease patients was 19.36 ± 6.79. The genotypic frequencies for rs10128556 were 82.0% (TT), 16.7% (CT) and 1.3% (CC) for sickle cell disease patients. The minor C allele resulted in 52.0% decrease in Hb F levels when homozygous and 7.0% decrease when heterozygous. The rs10128556 single nucleotide polymorphism (SNP) was in strong but not complete linkage with the HBG XmnI variant. In conclusion, the study determined for the first time the frequency and association of rs10128556 in Indian sickle cell disease patients with Hb F. It also established that it was not in complete linkage with the HBG XmnI variant in this high risk population.
Full Text Available Progressive improvements in the health and survival of patients with thalassaemia and sickle cell disease have increased the reproductive prospects of affected individuals. However, pregnancy in these disorders is associated with significant maternal and fetal risks and expert management is required to ensure good outcomes. In the United Kingdom, it is recognised that the patchy geographical distribution of these conditions poses challenges for access to specialist care, including specialist obstetric services. Guidelines on the pregnancy management of thalassaemia and sickle cell disease in the UK have been published by the Royal College of Obstetricians and Gynaecologists. These guidelines describe the preconceptual, antenatal, intrapartum and postpartum aspects of care. They highlight the high-risk status of pregnancy in these conditions and emphasise the vital importance of specialist multidisciplinary care to the achievement of favourable maternal and fetal outcomes. The guidelines are a valuable resource to healthcare professionals, especially those working in low prevalence areas.
Introduction: Sickle cell disease is a chronic disease. Severe bone pain is commonly the hallmark of clinical features. This commonly necessitates the use of analgesics especially Opioids which unfortunately have a high potential to produce dependence. The complications of dependence in patients on any psychoactive ...
J Gordon Millichap
Full Text Available As part of an International Pediatric Stroke Study launched in 2002, the Stroke Prevention Trial in Sickle Cell Anemia (STOP reports a reduction in the number of overt clinical strokes in children with critically high transcranial Doppler velocities (>200 cm/sec who were regularly transfused.
The antenatal complications included anaemia (62.9%), vaso-oclusive. (bone pain) ... Conclusion: Pregnancy in sickle cell disease patients is associated with high maternal and perinatal morbidity .... and malaria (25.7%) were other common.
Hladun, R; Elorza, I; Olivé, T; Dapena, J L; Llort, A; Sánchez de Toledo, J; Díaz de Heredia, C
The prevalence of hemoglobinopathies in Spain is increasing as a result of immigration. Thalassemia major presents with chronic hemolytic anemia that requires regular red blood cell transfusions within the first year of life. Patients with sickle cell disease suffer from chronic anemia, vasculopathy and progressive damage in almost any organ. There is decreased life expectancy in both conditions. Allogeneic hematopoietic stem cell transplantation represents the only potentially curative option. Seventeen patients (fourteen thalassemia major, and three sickle cell disease) underwent allogeneic hematopoietic stem cell transplantations. In the thalassemia group, nine donors were HLA-geno-identical siblings, two were partially matched related donors (one HLA allele mismatch), and three unrelated donors. All three patients with sickle cell disease were transplanted from HLA-geno-identical siblings. The source of stem cells was bone marrow in sixteen cases. Median patient age at transplant was six years (range: 1-16) in the thalassemia group, and twelve years (range: 8-15) in the sickle cell disease group. The graft was successful in all patients. Secondary graft rejection was observed in two thalassemia patients rendering them dependent on blood transfusions. Complete chimerism was observed in thirteen patients and, although mixed chimerism occurred in two, with all of them showing normal hemoglobin levels after transplantation and not requiring further transfusion support. Patients affected by sickle cell disease did not present with new vaso-occlusive crises, and stabilization of pulmonary and neurological function was observed. Chronic graft-versus-host disease was detected in three patients affected by thalassemia, and hypogonadotrophic hypogonadism in five patients. We conclude that for thalassemia major and sickle cell disease, allogenic hematopoietic stem cell transplantation from HLA-geno-identical siblings offers a high probability of complication-free survival
Full Text Available Hematopoietic stem cell transplantation (HSCT still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia. Results of transplant in thalassemia and in sickle cell anemia have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through 2009, 145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous from Mediterranean and Middle East countries, were given HSCT in the International Center for Transplantation in Thalassemia and Sickle Cella Anemia in Rome. This experience is characterized by two peculiarities: patients were ethnically very heterogeneous and the vast majority of these patients were not regularly transfesed/chelated and therefore were highly sensitized due to RBC transfusions without leukodepletion filters. Consequently, they could have a high risk of graft rejection as a result of sensitization to HLA antigens. The Rome experience of SCT in patients with thalassemia and sickle cell anemia confirmed the results obtained in Pesaro, and most importantly showed the reproducibility of these results in other centers.
Díaz-Piedra, Pablo; Cervantes-Villagrana, Alberto Rafael; Ramos-Jiménez, Raúl; Presno-Bernal, José Miguel; Cervantes-Villagrana, Rodolfo Daniel
Hemoglobin S is an abnormal protein that induces morphological changes in erythrocyte in low-oxygen conditions. In Mexico, it is reported that up to 13.7% of the population with mutation in one allele are considered asymptomatic (sickle cell trait). The sickle cell trait and diabetes mellitus are conditions that occur together in more than one million patients worldwide. Both diseases possibly produce microvascular changes in retinopathy and acute chest syndrome. The aim of this study was to evaluate the induction of sickle cells in samples of diabetic patients with sickle cell trait to identify altered red cell parameters. We obtained samples of diabetic patients to determine hemoglobin A1c and S; furthermore, red blood cell biometrics data were analyzed. We found that older men with diabetes were susceptible to generate sickle cells and this correlated with reduced red blood cell count and an increase in media cell volume. In samples of women diabetes, there were no differences. We conclude that samples from patients with sickle cell trait and diabetes can cause sickle cells with high frequency in men, with lower red blood cells count and increased mean corpuscular volume as susceptibility parameters.
Yadav, Rajiv; Lazarus, Monica; Ghanghoria, Pawan; Singh, Mpss; Gupta, Rasik Behari; Kumar, Surendra; Sharma, Ravendra K; Shanmugam, Rajasubramaniam
The clinical manifestation in sickle cell disease (SCD) patients varies from one individual to another due to factors like the presence of alpha-thalassaemia mutation, foetal haemoglobin, and β-globin gene haplotype. The present study enumerates the clinical profile of sickle cell anaemia patients from Central India. Seven hundred seventy-six SCD patients from Jabalpur and surrounding districts (Madhya Pradesh) in central India were registered with the sickle cell clinic of NIRTH, Jabalpur. The present study reveals recorded signs and symptoms of genetically confirmed sickle cell anaemia (404) and sickle beta thalassaemia (92) patients. Majority of the patients were from scheduled caste communities (47.9%) and Gond tribal community (13.8%). Splenomegaly was the most common clinical manifestation observed (71.4%). Overall, 63.5% patients had a history of blood transfusion. The most frequent signs and symptoms observed were Pallor, Icterus, Joint pain, Fever, and Fatigue. Majority of the patients revealed onset of disease prior to attaining the age of 3 years (sickle cell anaemia 44.3% and sickle beta thalassaemia 35.9%). Mean haemoglobin levels among SCA individuals were marginally higher than SBT patients. On the other hand, mean foetal haemoglobin levels among SBT individuals showed the reverse trend. Notably, the present study reports the first incidence of priapism recorded in Central India. The study revealed a high prevalence of SCD among scheduled caste, backward caste, and tribal communities. Dissemination of study findings, screening, pre-marriage counselling, and pre-natal diagnosis are fundamental to preventing or lowering of birth of sickle cell anaemia children in the affected populations.
Piel, Frédéric B.; Tewari, Sanjay; Brousse, Valentine; Analitis, Antonis; Font, Anna; Menzel, Stephan; Chakravorty, Subarna; Thein, Swee Lay; Inusa, Baba; Telfer, Paul; de Montalembert, Mariane; Fuller, Gary W.; Katsouyanni, Klea; Rees, David C.
Sickle cell disease is an increasing global health burden. This inherited disease is characterized by a remarkable phenotypic heterogeneity, which can only partly be explained by genetic factors. Environmental factors are likely to play an important role but studies of their impact on disease severity are limited and their results are often inconsistent. This study investigated associations between a range of environmental factors and hospital admissions of young patients with sickle cell disease in London and in Paris between 2008 and 2012. Specific analyses were conducted for subgroups of patients with different genotypes and for the main reasons for admissions. Generalized additive models and distributed lag non-linear models were used to assess the magnitude of the associations and to calculate relative risks. Some environmental factors significantly influence the numbers of hospital admissions of children with sickle cell disease, although the associations identified are complicated. Our study suggests that meteorological factors are more likely to be associated with hospital admissions for sickle cell disease than air pollutants. It confirms previous reports of risks associated with wind speed (risk ratio: 1.06/standard deviation; 95% confidence interval: 1.00–1.12) and also with rainfall (1.06/standard deviation; 95% confidence interval: 1.01–1.12). Maximum atmospheric pressure was found to be a protective factor (0.93/standard deviation; 95% confidence interval: 0.88–0.99). Weak or no associations were found with temperature. Divergent associations were identified for different genotypes or reasons for admissions, which could partly explain the lack of consistency in earlier studies. Advice to patients with sickle cell disease usually includes avoiding a range of environmental conditions that are believed to trigger acute complications, including extreme temperatures and high altitudes. Scientific evidence to support such advice is limited and
... message, please visit this page: About CDC.gov . Learn Tips for Receiving Better Care in the Emergency Department in Our Fact ... related care in the United States. Read Supplement » VIDEO Sickle Cell Disease: When to Transfuse Learn about indications for blood transfusion in patients with ...
Christy, Steven C.
Presents sources for the acquisition of medical, social, psychological, educational, and practical knowledge of sickle cell anemia. The materials listed are designed to help parents, educators, and public service workers. Materials include journal articles, films, brochures, slides, and fact sheets. The usual bibliographic information is given.…
... days. Your body may have trouble making enough new cells to replace the ones that you lost. Because ... Indian backgrounds. What are the symptoms of sickle cell disease? People with ... the whites of the eyes (icterus) The effects of SCD vary from person ...
Full Text Available Homozygous sickle cell disease (SCD has a wide spectrum of clinical manifestations. In Brazil, the main cause of death of individuals with SCD is recurrent infection. The CCR5delta32 allele, which confers relative resistance to macrophage-tropic HIV virus infection, probably has reached its frequency and world distribution due to other pathogens that target macrophage in European populations. In the present investigation a relatively higher prevalence (5.1% of the CCR5delta32 allele was identified, by PCR amplification using specific primers, in 79 SCD patients when compared to healthy controls (1.3% with the same ethnic background (Afro-Brazilians. Based on a hypothesis that considers SCD as a chronic inflammatory condition, and since the CCR5 chemokine receptor is involved in directing a Th1-type immune response, we suggest that a Th1/Th2 balance can influence the morbidity of SCD. If the presence of the null CCR5delta32 allele results in a reduction of the chronic inflammation state present in SCD patients, this could lead to differential survival of SCD individuals who are carriers of the CCR5delta32 allele. This differential survival could be due to the development of less severe infections and consequently reduced or less severe vaso-occlusive crises.
Cameron L. McBride
Full Text Available Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity. Diagnosis can be delayed since the presentation has physical and radiographic findings mimicking various infectious and traumatic processes. We describe a patient who presented with sickle cell orbital crisis without pain. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease or of African descent born outside the United States in a region where screening for hemoglobinopathy is not routine, even when the presentation is not classic.
Ugalde, Diego; Conte, Guillermo; Ugalde, Héctor; Figueroa, Gastón; Cuneo, Marianela; Muñoz, Macarena; Mayor, Javiera
Drepanocytic anemia is an uncommon hereditary disease in Chile. The heterozygous state of drepanocytic anemia or "sickle trait" has a frequency of 8% among Afro-Americans. A small number of patients carrying hemoglobin S are homozygous, with clinical manifestations of hemolytic anemia and thrombotic disease. Sickle trait is usually asymptomatic. We report a 59-year-old male who presented an acute abdominal pain and dyspnea while staying at high altitude. Six days later, an angio CAT scan showed the presence of a subcapsular splenic hematoma that was managed conservatively. Sickle cell induction with sodium metabisulphite was positive. Hemoglobin electrophoresis confirmed the sickle trait.
Estcourt, Lise J; Fortin, Patricia M; Hopewell, Sally; Trivella, Marialena; Wang, Winfred C
hydroxyurea (hydroxycarbamide) and phlebotomy to long-term transfusions and iron chelation therapy: one in primary prevention (children); and one in secondary prevention (children and adolescents). The quality of the evidence was very low to moderate across different outcomes according to GRADE methodology. This was due to the trials being at a high risk of bias due to lack of blinding, indirectness and imprecise outcome estimates. Red cell transfusions versus standard care Children with no previous long-term transfusions Long-term transfusions probably reduce the incidence of clinical stroke in children with a higher risk of stroke (abnormal transcranial doppler velocities or previous history of silent cerebral infarct), risk ratio 0.12 (95% confidence interval 0.03 to 0.49) (two trials, 326 participants), moderate quality evidence. Long-term transfusions may: reduce the incidence of other sickle cell disease-related complications (acute chest syndrome, risk ratio 0.24 (95% confidence interval 0.12 to 0.48)) (two trials, 326 participants); increase quality of life (difference estimate -0.54, 95% confidence interval -0.92 to -0.17) (one trial, 166 participants); but make little or no difference to IQ scores (least square mean: 1.7, standard error 95% confidence interval -1.1 to 4.4) (one trial, 166 participants), low quality evidence. We are very uncertain whether long-term transfusions: reduce the risk of transient ischaemic attacks, Peto odds ratio 0.13 (95% confidence interval 0.01 to 2.11) (two trials, 323 participants); have any effect on all-cause mortality, no deaths reported (two trials, 326 participants); or increase the risk of alloimmunisation, risk ratio 3.16 (95% confidence interval 0.18 to 57.17) (one trial, 121 participants), very low quality evidence. Children and adolescents with previous long-term transfusions (one trial, 79 participants) We are very uncertain whether continuing long-term transfusions reduces the incidence of: stroke, risk ratio 0.22 (95
Estcourt, Lise J; Fortin, Patricia M; Hopewell, Sally; Trivella, Marialena; Wang, Winfred C
primary prevention (children); and one in secondary prevention (children and adolescents).The quality of the evidence was very low to moderate across different outcomes according to GRADE methodology. This was due to the trials being at a high risk of bias due to lack of blinding, indirectness and imprecise outcome estimates. Red cell transfusions versus standard care Children with no previous long-term transfusionsLong-term transfusions probably reduce the incidence of clinical stroke in children with a higher risk of stroke (abnormal transcranial doppler velocities or previous history of silent cerebral infarct), risk ratio 0.12 (95% confidence interval 0.03 to 0.49) (two trials, 326 participants), moderate quality evidence.Long-term transfusions may: reduce the incidence of other sickle cell disease-related complications (acute chest syndrome, risk ratio 0.24 (95% confidence interval 0.12 to 0.48)) (two trials, 326 participants); increase quality of life (difference estimate -0.54, 95% confidence interval -0.92 to -0.17) (one trial, 166 participants); but make little or no difference to IQ scores (least square mean: 1.7, standard error 95% confidence interval -1.1 to 4.4) (one trial, 166 participants), low quality evidence.We are very uncertain whether long-term transfusions: reduce the risk of transient ischaemic attacks, Peto odds ratio 0.13 (95% confidence interval 0.01 to 2.11) (two trials, 323 participants); have any effect on all-cause mortality, no deaths reported (two trials, 326 participants); or increase the risk of alloimmunisation, risk ratio 3.16 (95% confidence interval 0.18 to 57.17) (one trial, 121 participants), very low quality evidence. Children and adolescents with previous long-term transfusions (one trial, 79 participants)We are very uncertain whether continuing long-term transfusions reduces the incidence of: stroke, risk ratio 0.22 (95% confidence interval 0.01 to 4.35); or all-cause mortality, Peto odds ratio 8.00 (95% confidence interval 0
Lucarelli, Guido; Isgrò, Antonella; Sodani, Pietro; Gaziev, Javid
The globally widespread single-gene disorders β-thalassemia and sickle cell anemia (SCA) can only be cured by allogeneic hematopoietic stem cell transplantation (HSCT). HSCT treatment of thalassemia has substantially improved over the last two decades, with advancements in preventive strategies, control of transplant-related complications, and preparative regimens. A risk class–based transplantation approach results in disease-free survival probabilities of 90%, 84%, and 78% for class 1, 2, and 3 thalassemia patients, respectively. Because of disease advancement, adult thalassemia patients have a higher risk for transplant-related toxicity and a 65% cure rate. Patients without matched donors could benefit from haploidentical mother-to-child transplantation. There is a high cure rate for children with SCA who receive HSCT following myeloablative conditioning protocols. Novel non-myeloablative transplantation protocols could make HSCT available to adult SCA patients who were previously excluded from allogeneic stem cell transplantation. PMID:22553502
Owusu-Ofori, Shirley; Remmington, Tracey
Acute splenic sequestration crises are a complication of sickle cell disease, with high mortality rates and frequent recurrence in survivors of first attacks. Splenectomy and blood transfusion, with their consequences, are the mainstay of long-term management used in different parts of the world. This is a 2015 update of a Cochrane review first published in 2002, and previously updated in 2013. To assess whether splenectomy (total or partial), to prevent acute splenic sequestration crises in people with sickle cell disease, improved survival and decreased morbidity in people with sickle cell disease, as compared with regular blood transfusions. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and handsearching relevant journals and abstract books of conference proceedings.Additional trials were sought from the reference lists of the trials and reviews identified by the search strategy.Date of the most recent search: 10 June 2015. All randomized or quasi-randomized controlled trials comparing splenectomy (total or partial) to prevent recurrence of acute splenic sequestration crises with no treatment or blood transfusions in people with sickle cell disease. No trials of splenectomy for acute splenic sequestration were found. No trials of splenectomy for acute splenic sequestration were found. Splenectomy, if full, will prevent further sequestration and if partial, may reduce the recurrence of acute splenic sequestration crises. However, there is a lack of evidence from trials showing that splenectomy improves survival and decreases morbidity in people with sickle cell disease. There is a need for a well-designed, adequately-powered, randomized controlled trial to assess the benefits and risks of splenectomy compared to transfusion programmes, as a means of improving survival and decreasing mortality from acute splenic
In this background management of sickle cell patients in context of ... Key Words: Sickle cell anemia, infant mortality, pre-reproductive mortality, Indian tribes, malaria, sickle cell crisis management, remedial hope for sickle cell patients.
Kato, Gregory J.
Introduction Priapism is a familiar problem to hematologists, well known for its association with sickle cell disease. It also occurs in a variety of other hematological illnesses, nearly all forms of congenital hemolytic anemia, including other hemoglobinopathies and red blood cell membranopathies and enzymopathies. Aim Provide urologists with a comprehensive review of priapism in sickle cell disease, with an emphasis on the perspective of a practicing hematologist. Methods Medline searches through July 2010 were conducted using the terms priapism, erectile dysfunction, and sickle cell. Main Outcome Measure Expert opinion was based on review of the medical literature related to this subject matter. Results In men with sickle cell disease, large epidemiological studies have linked the risk of priapism to clinical markers of the severity of intravascular hemolysis. Extracellular hemoglobin and arginase released during hemolysis has been implicated in reducing nitric oxide bioavailability, although the relevance of hemolysis to vascular dysfunction has been challenged by some scientists. Consistent with the role of impairment of the nitric oxide axis, mice genetically deficient in nitric oxide production have also been shown to develop priapic activity. Provocative new data indicates that hemolysis-linked dysregulation of adenosine signaling in the penis contributes to priapism in sickle cell mice. Serious questions have arisen regarding the efficacy of mainstays of textbook dogma for treatment of acute severe priapism, including intravenous fluids, alkalinization and exchange transfusion, and there is increasing acceptance for early aspiration and irrigation of the corpus cavernosum. Conclusions For sickle cell patients with recurrent priapism, there is very limited evidence for a medical prophylaxis role for hydroxyurea, etilefrine, pseudoephedrine, leuprolide, sildenafil, and other agents. Recent publications have highlighted nitric oxide and adenosine signal
Full Text Available Sickle cell disease (SCD is a genetically transmitted multisystem disease1 which includes a group of disorders that differs in severity sign and symptoms, The disease is not uniformly seen everywhere but it has some topographical distribution. In India, it is frequently seen in Central India, in and around the vicinity of Chhattisgarh in some religions in caste like kurmis, satnami, mahar, other backward caste and some tribes, it has great pathological significance considering the high morbidity and mortality resulting from the disease process. We have studied the cases of SCD from 2001 to 2015 series of such patients, since there is no cure of this disease, in regards to prevention of this genetic autosomal recessive disorder by marriage counseling, the incidence can be significantly reduced by avoiding consanguineous marriages in the susceptible community.
Wigg, A.J.; Mounkley, A.D.; Cochlan, D.; Somers, S.
We describe a rare, severe, vaso-occlusive presentation of sickle cell disease, named sickle cell intrahepatic cholestasis (SCIC). Patients with sickle cell/β + thalassaemia frequently have mild vaso-occlusive symptoms and only one case of SCIC developing in a patient with sickle cell/β + thalassaemia has been previously described in the world literature. The present report represents only the second described case of SCIC in a patient with sickle cell/β + thalassaemia. An abdominal computed tomography scan and Doppler ultrasound studies demonstrated massive hepatomegaly (25 cm span). Liver biopsy was performed and demonstrated dilatation and congestion of erythrocytes, severe cholestasis and fibrosis. The case demonstrates the importance of early recognition and institution of adequate therapy. Initial and correct diagnosis does not require biopsy or surgery which carry substantial risks of bleeding and mortality
Ware, Russell E
Hydroxyurea has proven efficacy in numerous clinical trials as a disease-modifying treatment for patients with sickle cell anemia (SCA) but is currently under-used in clinical practice. To improve the effectiveness of hydroxyurea therapy, efforts should be directed toward broadening the clinical treatment indications, optimizing the daily dosage, and emphasizing the benefits of early and extended treatment. Here, various issues related to hydroxyurea treatment are discussed, focusing on both published evidence and clinical experience. Specific guidance is provided regarding important but potentially unfamiliar aspects of hydroxyurea treatment for SCA, such as escalating to maximum tolerated dose, treating in the setting of cerebrovascular disease, switching from chronic transfusions to hydroxyurea, and using serial phlebotomy to alleviate iron overload. Future research directions to optimize hydroxyurea therapy are also discussed, including personalized dosing based on pharmacokinetic modeling, prediction of fetal hemoglobin responses based on pharmacogenomics, and the risks and benefits of hydroxyurea for non-SCA genotypes and during pregnancy/lactation. Another critical initiative is the introduction of hydroxyurea safely and effectively into global regions that have a high disease burden of SCA but limited resources, such as sub-Saharan Africa, the Caribbean, and India. Final considerations emphasize the long-term goal of optimizing hydroxyurea therapy, which is to help treatment become accepted as standard of care for all patients with SCA. © 2015 by The American Society of Hematology. All rights reserved.
Jan 18, 2007 ... kidney as most of the energy for proton dialysis is wasted as a result of high entropy. Key words: Sickle cell, anaemia, energy, kidney, dialysis, proton, and enthalpy. INTRODUCTION. Evidence exists that for those with sickle cell syndromes. “kidney damage starts very early and progresses throu- ghout life” ...
Pashtoon Murtaza Kasi
Full Text Available Pegfilgrastim (Neulasta is a recombinant filgrastim (human granulocyte colony-stimulating factor (G-CSF attached to a polyethylene glycol (PEG molecule and is given as part of chemotherapy regimens that are associated with significant myelosuppression and risk for febrile neutropenia. Prescribing information available on manufacturer’s website for the drug warns us about possible severe sickle cell crises related to the medication but does not report the actual incidence or the use in patients with sickle cell trait. Caution is advised when using it in patients with sickle cell disease. Here we present a case of a Caucasian female with known sickle cell trait (SCT with no prior complications who developed a presumed sickle cell crisis after getting Neulasta, as a part of the chemotherapy regimen used to treat her breast cancer. Based on our literature review, this appears to be the first case report of a patient with SCT developing a sickle cell crisis with the pegylated form of recombinant filgrastim. Given the dearth of literature regarding the use of G-CSF and its related pegylated forms in patients with sickle cell anemia and sickle cell trait, a discussion of potential mechanisms and review of current literature and guidelines is also presented.
Abiola, A O; Ojika, B O; Mannir, B; Abba, S K; Muhammad, M; Ibrahim, M T O; Aschcroft, B N; Akanmu, S S
Sickle cell disorder is the most important genetic hematological disease that affects people of black African descent. The years of young adulthood present a good opportunity for screening and counseling for this genetic blood disorder. To assess effect of health education and provision of free sickle cell haemoglobin screening on knowledge of sickle cell disorder, attitude towards sickle cell haemoglobin screening, and uptake of sickle cell haemoglobin screening among students of a School of Nursing. Study design was a quasi-experimental noncontrolled study. Self-administered questionnaire was used for pre- and post-intervention data collection. Implemented interventions were seminar on sickle cell disorder combined with free sickle cell haemoglobin screening. The data was analyzed with Epi-info version 3.5.1 statistical software package. Respondents who participated in all the study phases were 104. Mean knowledge score (%) was high (80.9 +/- 22.8%) at baseline and improved significantly to 91.8 +/- 9.4% (p marriage if self and fiancée are carriers of sickle cell haemoglobin. Phenotype of the respondents that volunteered to be screened for sickle cell haemoglobin were: A (70.5%), AC (6.8%) and AS (22.7%). Implemented interventions, seminar on sickle cell disorder combined with free sickle cell haemoglobin screening service yielded significant impact on respondents' knowledge, attitude and uptake of sickle cell haemoglobin screening.
Hassan, Mohamed; Hasan, Syed; Giday, Samuel; Alamgir, Laila; Banks, Alpha; Frederick, Winston; Smoot, Duane; Castro, Oswaldo
level higher than 1,000 ng/ml. A total of 20 of the patients with iron overload underwent liver biopsies. Seven of these 20 patients (35%) were HCV positive. These patients often had more severe liver disease and higher degree of iron deposition. CONCLUSION: The prevalence of HCV antibody and iron overload is directly related to the number of blood transfusions in patients with sickle cell disease. The prevalence of HCV infection has decreased significantly, since blood donor screening for HCV became available. Chronic HCV infection and iron overload place sickle cell patients at risk for significant liver disease. PMID:14620705
Ballardini, Elisa; Tarocco, Anna; Marsella, Maria; Bernardoni, Roberto; Carandina, Gianni; Melandri, Claudia; Guerra, Giovanni; Patella, Alfredo; Zucchelli, Miranda; Ferlini, Alessandra; Bigoni, Stefania; Ravani, Anna; Garani, Giampaolo; Borgna-Pignatti, Caterina
Sickle cell disease is the commonest haemoglobinopathy in Africa, the Middle East and India. In recent years, its incidence has increased dramatically also in Europe and North America because of the high rate of migration of people from endemic areas. From January 2009 to January 2010 the number of foreign residents in the province of Ferrara (Italy) increased by 12.2%: most of the immigrants were from countries at high risk of sickle cell disease. Since neonatal screening and prophylactic penicillin in early childhood could reduce mortality by 10 years of age to less than 2%, the aim of this study was to establish a neonatal screening programme for haemoglobinopathies in Ferrara. First we assessed how many pregnant women underwent haemoglobin analysis by high performance liquid chromatography before or during pregnancy and how many of them were carriers of haemoglobinopathies. Subsequently, we verified the feasibility of neonatal screening for sickle cell disease and other haemoglobinopathies, analysing cord blood by high performance liquid chromatography. Neonates found to be positive were managed by a multidisciplinary team to implement all the appropriate prophylactic and therapeutic measures. We found that 59% of women who delivered at the University Hospital of Ferrara, from 2007 to 2009, had undergone high performance liquid chromatography. Of the 41% who were not tested, many were from areas in which sickle cell disease is common. Between September 26th 2010 and January 31st 2012, 1992 neonatal tests were performed and 24 carriers of haemoglobinopathies were identified (16 with HbS, 4 with HbC, 2 with HbE, 1 with HbD Punjab and 1 with HbD-Ouled Rabah); 42.6% of the mothers of these 1,992 neonates had not undergone high performance liquid chromatography during pregnancy. Currently prevention of haemoglobinopathies in Italy is provided during the pre-conception period but only to patients with abnormal blood counts. Neonatal screening is useful and cost
Belfer, Inna; Youngblood, Victoria; Darbari, Deepika S.; Wang, Zhengyuan; Diaw, Lena; Freeman, Lita; Desai, Krupa; Dizon, Michael; Allen, Darlene; Cunnington, Colin; Channon, Keith M.; Milton, Jacqueline; Hartley, Stephen W.; Nolan, Vikki; Kato, Gregory J.; Steinberg, Martin H.; Goldman, David; Taylor, James G.
GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228; odds ratio [OR] 2.26; P = 0.009) and replication (n = 513; OR 2.23; P = 0.004) cohorts. In vitro, cells from sickle cell anemia subjects homozygous for the risk allele produced higher BH4. In vivo physiological studies of traits likely to be modulated by GCH1 showed rs8007267 is associated with altered endothelial dependent blood flow in females with SCA (8.42% of variation; P = 0.002). The GCH1 pain association is attributable to an African haplotype with where its sickle cell anemia pain association is limited to females (OR 2.69; 95% CI 1.21–5.94; P = 0.01) and has the opposite directional association described in Europeans independent of global admixture. The presence of a GCH1 haplotype with high BH4 in populations of African ancestry could explain the association of rs8007267 with sickle cell anemia pain crises. The vascular effects of GCH1 and BH4 may also have broader implications for cardiovascular disease in populations of African ancestry. PMID:24136375
Fernández-Meré, L A; Sopena-Zubiría, L A; Alvarez-Blanco, M
Sickle cell anemia is the most common hemoglobinopathy. Advances in therapeutic techniques and anesthetic procedures have led to a considerable increase in the success of surgical procedures in these patients. We report the case of a 16-year-old black boy diagnosed with sickle cell anemia and beta-thalassemia who presented with chronic osteomyelitis of the tibia. He was scheduled for debridement of the lesion and musculocutaneous flap repair. We emphasize the importance of communication between anesthesiologists, surgeons, and hematologists in the perioperative period in order to determine the risk of complications and anticipate them.
Patrícía Costa Alves Pinto
Full Text Available OBJETIVO: Determinar a imunofenotipagem eritrocitária em doadores de sangue e em pacientes com anemia falciforme (SS atendidos no Hemocentro de Alagoas e descrever a frequência e os fatores associados à aloimunização eritrocitária. MÉTODOS: Estudo transversal com 102 pacientes SS e 100 doadores de sangue. Realizou-se a fenotipagem eritrocitária, teste de Coombs Direto e Indireto e detecção de anticorpos irregulares por painel de hemácias fenotipadas. Os dados foram comparados por meio do teste de Mann-Whitney, qui-quadrado ou teste exato de Fisher. Para análise dos fatores associados à aloimunização utilizou-se a regressão logística univariada e múltipla. RESULTADOS: Os antígenos mais frequentes entre os pacientes e os doadores foram c, e, M, s, JK(a. Observaram-se diferenças significativas entre as frequências dos fenótipos dos pacientes e dos doadores em relação aos antígenos s, FY(a e JK(b. Dos 79 pacientes transfundidos, 10 (12,7% apresentaram Coombs Indireto positivo. Detectaram-se 13 aloanticorpos, sete do sistema Rh, dois do Kell e quatro não identificados. Os fatores associados à aloimunização foram o intervalo de tempo entre a última transfusão e a data do teste e ter recebido mais de dez transfusões de hemácias. Receber mais de dez transfusões representou uma chance 16,39 (IC 95%: 2,23-120,59 vezes maior de ser aloimunizado, em comparação aos que receberam menos que dez. CONCLUSÃO: A prevalência de aloimunização nos pacientes SS foi 12,7%, sendo 70% dos anticorpos encontrados pertencentes a grupos sanguíneos Rh e Kell. Este estudo mostra a importância da fenotipagem eritrocitária em doadores e receptores para diminuir o risco de aloimunização.OBJECTIVE: To determine erythrocyte phenotyping in blood donors and patients with sickle cell anemia (SS treated at Hemocentro of Alagoas and describe the frequency and factors associated with erythrocyte alloimmunization. METHODS: Cross-sectional study
Oct 3, 2011 ... Sickle Cell Disease (SCD) refers to a group of conditions characterized by ... reflects the interaction between individual biology and environmental factors. .... autonomy, genetic counseling should be non-directive; but is this realistic? .... The risks versus benefits of prenatal diagnosis and selective abortion.
... risk of having a child with sickle cell anemia and are planning to have children, ask your health care professional about genetic counseling. ... to manage pain. Make sure babies and young children get needed antibiotics and routine vaccinations to ... Nicholas NIH Office of Communications and ...
General Accounting Office, Washington, DC.
This report provides an overview of efforts undertaken by the U.S. General Accounting Office (GAO) in 1990 to review and report on federal program areas its work identified as high risk because of vulnerabilities to waste, fraud, abuse, and mismanagement. It reviews the current status of efforts to address these concerns. The six categories of…
Lebensburger, Jeffrey D.; Howard, Thad; Hu, Yunming; Pestina, Tamara I.; Gao, Geli; Johnson, Melissa; Zakharenko, Stanislav S.; Ware, Russell E.; Tuomanen, Elaine I.; Persons, Derek A.
Sickle cell anemia is characterized by chronic hemolysis coupled with extensive vascular inflammation. This inflammatory state also mechanistically promotes a high risk of lethal, invasive pneumococcal infection. Current treatments to reduce vaso-occlusive complications include chronic hydroxyurea therapy to induce fetal hemoglobin. Because hydroxyurea also reduces leukocytosis, an understanding of the impact of this treatment on pneumococcal pathogenesis is needed. Using a sickle cell mouse model of pneumococcal pneumonia and sepsis, administration of hydroxyurea was found to significantly improve survival. Hydroxyurea treatment decreased neutrophil extravasation into the infected lung coincident with significantly reduced levels of E-selectin in serum and on pulmonary epithelia. The protective effect of hydroxyurea was abrogated in mice deficient in E-selectin. The decrease in E-selectin levels was also evident in human sickle cell patients receiving hydroxyurea therapy. These data indicate that in addition to induction of fetal hemoglobin, hydroxyurea attenuates leukocyte–endothelial interactions in sickle cell anemia, resulting in protection against lethal pneumococcal sepsis. PMID:22130804
Cooper, Lilli; Seth, Rohit; Rhodes, Elizabeth; Alousi, Mohammed; Sivakumar, Bran
Sickle cell disease (SCD) is an increasingly common condition in the UK. The safety of free tissue transfer in these patients is controversial, and no specific guidelines exist. The aim of this paper is to create recommendations for the plastic surgical multidisciplinary team for use in the assessment and management of SCD patients undergoing free tissue transfer and reconstruction. A literature review was performed in PubMed of 'sickle [TiAb] AND plast* adj3 surg*. Sickle cell disease is explained, as is the relative peri-operative risk in different genotypes of SCD. Acute and chronic manifestations of SCD are described by system, for consideration at pre-operative assessment and post-operative review. The evidence surrounding free tissue transfer and SCD is discussed and the outcomes in published cases summarised. An algorithm for peri-operative multi-disciplinary management is outlined and justified. Free tissue transfer theoretically carries a high risk of a crisis, due not only to long anaesthetic times, but the potential requirement for tourniquet use, and the relatively hypoxic state of the transferred tissue. This paper outlines a useful, practical algorithm to optimise the safety of free tissue transfer in patients with SCD. Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
Sanjeev Shyam Rao
Full Text Available The aim of this study was to determine hematological profile of sickle cell disease (SCD from Surat, South Gujarat, India. This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Faculty of Pathology, Government Medical College, Surat, India, between July 2009 and December 2010. Patients included in this study were in their steady state for a long period of time without any symptoms related to SCD or other diseases which could affect the hematological parameters. Venous blood of all patients was collected in ethylenediaminetetraacetic acid and hematological indices were measured. Thirty-three subjects homozygous in all were studied for their hematological parameters for sickle cell anemia. Moderate to severe anemia, low mean cell volume and high foetal hemoglobin dominate the hematological profile of SCD children.
Møller, Holger Jon; Nielsen, Marianne Jensby; Bartram, Jack
Sickle cell disease (SCD) is characterized by vasculopathy, which has been causally linked to intravascular haemolysis and high levels of free plasma haemoglobin. Soluble CD163 (sCD163) is implicated in the clearance of free plasma haemoglobin and high plasma concentrations have been linked to ar...
van der Steen, Y; Gimpel-Drees, J; Lataster, T
OBJECTIVE: The aim of this study was to assess associations between momentary stress and both affective and psychotic symptoms in everyday life of individuals at clinical high risk (CHR), compared to chronic psychotic patients and healthy controls, in search for evidence of early stress...... and 26 healthy controls. RESULTS: Multilevel models showed significantly larger associations between negative affect (NA) and activity-related stress for CHR patients than for psychotic patients (P = 0.008) and for CHR compared to controls (P
Introduction: Sickle Cell Disease (SCD) has a high mortality rate in the environment where we practice. There is lack of contemporal autopsy studies describing causes of death among SCD patients at our centre. Methods: This is a retrospective study of SCD patients who died between January 1991 and December 2008 ...
Nov 6, 2016 ... ABSTRACT. BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a ...
Shah, Siddharth; Acholonu, Rhonda Graves; Ohene-Frempong, Kwaku; Asakura, Toshio
We previously found that blood samples collected from steady-state patients with sickle cell disease (SCD) without exposure to air contain a new type of reversibly sickled cells (RSCs) with blunt edges at a level of as high as 78%. Since partial oxygenation of once-deoxygenated sickled cells with pointy edges to near venous oxygen pressure generates similar sickled cells with blunt edges in vitro, we named them as partially oxygenated sickled cells (POSCs). On the other hand, partial deoxygenation of once-oxygenated SS cells to venous oxygen pressure generates partially deoxygenated sickled cells (PDSCs) with pointy edges. In this study, we obtained blood samples from 6 steady-state patients with SCD under venous oxygen pressure without exposure to air, subjected them to various oxygenation/deoxygenation/reoxygenation cycles, and studied their filterability through a membrane filter with pore diameter of 3μm, the theoretical minimum diameter of a capillary. Our results indicated that discocytes, POSCs with blunt edges, and irreversibly sickled cells could deform and pass through the filter, while PDSCs with pointy edges were rigid and could not. The filterability of SS cells seems to be related to the length and amount of deoxy-hemoglobin S fibers in the cells. Copyright © 2015. Published by Elsevier Inc.
Thompson, Wendy E; Eriator, Ike
To examine the factors associated with the use of complementary and alternative medicine (CAM) as reported by patients attending an adult sickle cell clinic at a tertiary institution. Cross-sectional survey. This study was conducted in a university tertiary care adult sickle cell clinic. Adult sickle cell patients. Following Institutional Review Board approval, a questionnaire was administered to patients in a sickle cell clinic to examine their use of CAM for managing pain at home and while admitted to the hospital. Of the 227 respondents who completed the questionnaire, 92% experienced pain lasting from 6 months to more than 2 years. Two hundred and eight (91.6%) indicated that they have used CAM within the last 6 months to control pain. The frequency of CAMs use was higher among females, singles, those with more education, and higher household income. This study shows that a substantial majority of sickle cell patients live with pain on a regular basis and that there is substantial CAM use in the adult Sickle cell disease population. Being female and having a high school or higher education were significantly correlated with the use of CAM in sickle cell patients. A variety of CAM therapies are used, with the most common being prayer. Wiley Periodicals, Inc.
Aimé Lukusa Kazadi
Full Text Available Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital’s country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%, who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47.7%, 10.5%, and 50.3% of SCA children. A history of hand-foot syndrome, more than 3 blood transfusions, being less than 12 months of age when receiving the first transfusion, more than two severe sickle crises per year, a medical history of severe infections, and the presence of hepatomegaly were associated with poor growth. When comparing sickle cell patients under 12 years of age (n=159 to a group of 296 age-matched children with normal Hb-AA, a significantly higher proportion of subjects with stunting and underweight were found among SCA. Conclusion. Nutritional status encountered in Congolese sickle cell children has been described for the first time in this study. A high prevalence of poor growth in SCA children was found in our study.
Adeyemo, Titilope; Ojewunmi, Oyesola; Oyetunji, Ajoke
Sickle cell disease (SCD) is the most common inherited disorder of haemoglobin worldwide. This study evaluated the chromatographic patterns and red blood cell indices of sickle cell patients to determine the co-inheritance of other haemoglobin(Hb) variants and β-thalassaemia trait. Red cell indices, blood film, sickle solubility test, Hb electrophoresis using alkaline cellulose acetate membrane, and chromatographic patterns using Bio Rad HPLC Variant II were evaluated for 180 subjects. Based on low MCV 4.0% on HPLC and Hb variants eluting outside the S and C windows, at least four haemoglobin phenotypes (SS: 87.7%; SC: 1.1%; SD Punjab: 0.6%; Sβ-thalassemia: 10.6%) were identified. Mean Hb F% was 8.1±5.1 (median 7.65) for Hb SS and 6.03±5.2 (median 3.9) for Hb Sβ-thalassemia trait. Majority of Hb SS (69.1%) had Hb F% less than 10 while 27.6% had 10-19.9 and 3.2% had ≥ 20. Mean Hb F% was higher in female Hb SS (9.55±5.09; mean age 7.4±3.8 years) than the males (7.63±4.80; mean age 6.9±3.8 years) (P=0.02). A borderline significant negative correlation between age and Hb F levels among Hb SS subjects (r= -0.169 P=0.038) was also observed. Our data suggests that α and β- thalassaemia traits, and other haemoglobin variants co-exist frequently with SCD in our population.
function, the procoagulant, anticoagulant, and the fibrinolytic systems, are observed in sickle cell anemia (SCA) and are in favor of a procoagulant ... Abnormal exposure of phosphatidylserine (PS) in sickle .... Sickle cell disease and pulmonary.
Rodríguez-Moldes, B; Carbajo, A J; Sánchez, B; Fernández, M; Garí, M; Fernández, M C; Álvarez, J; García, A; Cela, E
The main aim of the study was to assess the effects of the recommended preventive program in the population affected with Sickle Cell Disease in Primary Care. The program included, antibiotic prophylaxis, immunizations and health education, following the introduction of universal neonatal screening program for Sickle Cell Disease in the Community of Madrid. A cross-sectional observational study was performed with retrospective data collected from a cohort of newborns with Sickle Cell Disease diagnosed by neonatal screening test in the Community of Madrid. From the data obtained from a sample of 20 patients, it was found that 95% had been diagnosed by the newborn screening test performed between 5 and 13 days of life. The mean age was 39 months when the study was conducted. During follow-up, from Primary Care Paediatric clinic, it was observed that the compliance for antibiotic prophylaxis was 90%, and the coverage for the official vaccination schedule was 85%. Specific vaccine coverage as a risk population was highly variable (85% for pneumococcal 23V, 50% for influenza, and 15% for hepatitis A). Health education only reached one in every four families. Acceptable compliance with antibiotic prophylaxis was observed during the follow-up of patients with sickle cell disease in Primary Care, but a low coverage of routine immunization, as well as specific immunizations. Coverage of health education was very low. Improving these parameters would require greater coordination and involvement of Primary Care Professionals so that these patients were followed up appropriately, and could be translated into a reduction of disease complications and an improvement in the quality of life of these patients. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.
Staser, Jonathan A.; Alam, Tariq; Applegate, Kimberly
The incidence of pulmonary embolism in children is not clearly known, but is believed to be low. Risk factors for pulmonary thromboembolism include central venous catheter, malignancy, surgery, infection, trauma, and congenital hypercoagulable disorders. Children with sickle cell disease are prothrombotic and are at an increased risk of thromboembolism. The incidence of this event is unknown because these children are often not thoroughly imaged. We report here a case of a calcified pulmonary thromboembolism in a child with sickle cell disease and emphasize the use of multidetector CT in detection of pulmonary thromboembolism in children with sickle cell disease. (orig.)
Clarisse Lopes de Castro Lobo
Full Text Available BACKGROUND: Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial Doppler to identify children at risk is not universally used. OBJECTIVE: To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality. METHODS: The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme. RESULTS: Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler. CONCLUSION: The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.
Morrissey, Benita J; Bycroft, Thomas P; Almossawi, Ofran; Wilkey, Olufunke B; Daniels, Justin G
Children with sickle cell disease are at increased risk of developing bacteremia and other serious bacterial infections. Fever is a common symptom in sickle cell disease and can also occur with sickle cell crises and viral infections. We aimed to evaluate the incidence and predictors of bacteremia and bacterial infection in children with sickle cell disease presenting with fever to a district hospital and sickle cell center in London. A retrospective analysis was performed on all attendances of children (aged under 16 years) with sickle cell disease presenting with a fever of 38.5 °C or higher over a 1-year period. Confirmed bacterial infection was defined as bacteremia, bacterial meningitis, urinary tract infection (UTI), pneumonia, osteomyelitis or other bacterial infection with positive identification of organism. Children were defined as having a suspected bacterial infection if a bacterial infection was suspected clinically, but no organism was identified. Over a 1-year period there were 88 episodes analyzed in 59 children. Bacteremia occurred in 3.4% of episodes and confirmed bacterial infection in 7.0%. Suspected bacterial infection occurred in 33.0%. One death occurred from Salmonella typhirium septicemia. C-reactive protein (CRP) level and white blood cell (WBC) count were both significantly associated with bacterial infection (p = 0.004 and 0.02, respectively.) In conclusion, bacterial infections continue to be a significant problem in children with sickle cell disease. C-reactive protein was significantly associated with bacterial infections, and could be included in clinical risk criteria for febrile children with sickle cell disease.
Colah, Roshan B; Mukherjee, Malay B; Martin, Snehal; Ghosh, Kanjaksha
The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 per cent. Co-inheritance of the sickle gene with β-thalassaemia, HbD Punjab and glucose-6-phosphate dehydrogenase (G6PD) deficiency has also been reported. Most of the screening programmes in India now use high performance liquid chromatography (HPLC) analysis although the solubility test is also sensitive and cheap. Sickle cell disease (SCD) among tribal populations is generally milder than among non-tribal groups with fewer episodes of painful crises, infections, acute chest syndrome and need for hospitalization. This has partly been attributed to the very high prevalence of α-thalassaemia among these tribes as well as higher foetal haemoglobin levels. However, the clinical presentation is variable with many cases having a severe presentation. There is not much information available on maternal and perinatal outcome in tribal women with sickle cell disease. Newborn screening programmes for SCD have recently been initiated in Maharashtra, Gujarat, Orissa and Chattisgarh and monitoring these birth cohorts will help to understand the natural history of SCD in India. Prenatal diagnosis is acceptable by tribal families in India. The Indian Council of Medical Research and the National Rural Health Mission in different States are undertaking outreach programmes for better management and control of the disease.
The Igbo of Nigeria believe that everyone is ogbanje (reincarnates) but malevolent ogbanje differ from others in being revenge-driven, chronically ill and engaging in repeated cycles of birth, death and reincarnation. This study examined culturally defined symptoms of 100 children classified as malevolent ogbanje; and investigated their family history and child mortality experience. There was concordance between cultural descriptions of malevolent ogbanje and symptoms as manifested in sickle cell patients. Hemoglobin analysis showed that 70 of the 100 children had sickle cell disease (SCD); while 68 families had death-related names. The symptoms associated with Igbo cases of reincarnation, high child mortality rates, and the high prevalence of sickle cell disease among children classified as malevolent ogbanje all support the conclusion that the symptomatology and early mortality experience are related to sickle cell. Names with themes of death were prevalent in families of children described as malevolent ogbanje. The findings are discussed with reference to cultural resistance to SCD as an explanation for malevolent ogbanje and the implications for the health care of children with SCD in Nigeria.
Joly, Philippe; Garnier, Nathalie; Kebaili, Kamila; Renoux, Céline; Dony, Arthur; Cheikh, Nathalie; Renard, Cécile; Ceraulo, Antony; Cuzzubbo, Daniela; Pondarré, Corinne; Martin, Cyril; Pialoux, Vincent; Francina, Alain; Bertrand, Yves; Connes, Philippe
The aim of this study was to test the association between hematological/genetic factors and cerebral vasculopathy in children with sickle cell anemia (SCA). A group with cerebral vasculopathy (VASC) was composed of children who had stroke (n = 6), silent infarct (n = 11), or an abnormal transcranial Doppler (n = 5). Eighty-four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial Doppler (NORM group). An intermediate group (COND; n = 15) was composed of SCA children with a conditional transcranial Doppler. Biological analyses were performed on samples obtained at steady state and before the beginning of any chronic treatment. The comparisons of the three groups demonstrated a protective effect of α-thalassemia against cerebral vasculopathy through its effects on hemoglobin and reticulocyte levels. Moreover, we observed higher frequency of G6PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α-thalassemia and G6PD status in the pathophysiology of cerebral vasculopathy in SCA children. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
The present invention includes embodiments for treatment and/or prevention of sickle cell disease that employ Hydroxyfasudil or Isocoronarin D alone or either in conjunction with each other or an inducer of HbF production. The compounds may act synergistically, and the compounds employed circumvent the side effects seen with Hydroxyurea.
Essack, Magbubah; Bajic, Vladimir B.; Radovanovic, Aleksandar
The present invention includes embodiments for treatment and/or prevention of sickle cell disease that employ Hydroxyfasudil or Isocoronarin D alone or either in conjunction with each other or an inducer of HbF production. The compounds may act synergistically, and the compounds employed circumvent the side effects seen with Hydroxyurea.
... are important. You can call your local sickle cell organization to find out how to get tested. SCD ... a brother or sister. Bone marrow or stem cell transplants are used only in cases of severe SCD for children who have minimal organ damage from the ... Formats Help: How do I view different file formats (PDF, DOC, PPT, MPEG) on this site? Adobe PDF ...
Al-Qurashi, Mansour M.; El-Mouzan, Mohammad I.; Al-Herbish, Abdullah S.; Al-Salloum, AbdullhA.; Al-Omar, Ahmad A.
Objective was to determine the prevalence and regional distribution ofsickle cell disease in Saudi children. A sample size of 45,682 children andadolescents from newborn to 19 years of age was selected by multistage randomprobability sampling of the Saudi households from each of the 13 regions ofthe country. The study is cross-sectional, community based and conducted over2 years from 2004 to 2005. Data including history and clinical examinationwere collected with house-to-house survey of all selected households. Datamanagement and analysis was carried out at King Saud University, Riyadh,Saudi Arabia. Sickle cell disease was detected in 108 of 45,682 children andadolescents with a prevalence of 24 per 10,000. The regional distribution ofsickle cell disease showed eastern region dominance with a prevalence of 145per 10,000, followed by the southern region with a prevalence of 24 per10,000, western region 12 per 10,000and central region with 6 per 10,000. Nocases were found in the northern region. The male to female ratio wasapproximately 1:1. The results of this national wide community-based surveyshow a high prevalence of sickle cell disease. In the community and thedisease is more common in eastern and southern regions of the country.National or regional newborn screening programs for sickle cell disease usinghematological tests should be planned. This study shows that the populationat risk has an uneven geographical distribution. For this reason, selectiverather than universal neonatal screening is likely to be more appropriate inthe country. (author)
Dokekias, A Elira; Ossini, L Ngolet; Tsiba, F O Atipo; Malanda, F; Koko, I; De Montalembert, M
Homozygous, sickle-cell disease (SCD) is responsible for acute complication, especially anaemic crisis and special situation such as acute chest syndrome, stroke and acute priapism. Pregnancy sickle-cell disease presents high risk for the mother and the fetus. In these indications, blood transfusion is the main therapy aiming to reduce anaemia in order to restore hemoglobin's rate or to increase normal Hb proportion. This study aims to assess the short-term efficiency of the red cell transfusion in SCD homozygous form. One hundred and twelve homozygous sickle-cell patients were enrolled in this prospective study: 59 females and 53 males, median age is 21,8 years (extremes: 2 and 45 years). These patients are mostly with very low income. Two groups of patients are included in this study. In the first group, patients present acute anemia crisis caused by infections disease (malaria, bacterial infections). In the second group (20 cases), SCD patients have particularly situations: pregnancy (10 cases); stroke (six cases); cardiac failure (two cases) and priapism (two cases). Transfusion treatment in first group is simple regimen. Transfusion of EC increased median Hb level at 2,9 g/dl (extremes: 1,1 and 4,7). In the second group of patients, 16 cases were transfused by manual partial exchange (1-3) and four patients received simple regimen of transfusion. Median Hb level was 3,1g/dl (extremes: 2,4-4,9 g/dl). HbS percentage reduction was after PTE between -30 and -66,8% (median: -52,6%). According to our diagnostic possibilities (blood serologic test), we have not found any contamination by HIV, HBV and HCV (virus).
The paper is about the economic risk and of the geologic risk that assist the industry of the petroleum; an analysis of these types of risk, possibilities of success and investments to carry out in the search of hydrocarbons are made
Pahl, Daniel A; Green, Nancy S; Bhatia, Monica; Chen, Royce W S
Sickle retinopathy reflects disease-related vascular injury of the eye, which can potentially result in visual loss from vitreous hemorrhage or retinal detachment. Here we review sickle retinopathy among children with sickle cell disease, describe the epidemiology, pediatric risk factors, pathophysiology, ocular findings, and treatment. Newer, more sensitive ophthalmological imaging modalities are available for retinal imaging, including ultra-widefield fluorescein angiography, spectral-domain optical coherence tomography, and optical coherence tomography angiography. Optical coherence tomography angiography provides a noninvasive view of retinal vascular layers that could previously not be imaged and can be quantified for comparative or prospective analyses. Ultra-widefield fluorescein angiography provides a more comprehensive view of the peripheral retina than traditional imaging techniques. Screening for retinopathy by standard fundoscopic imaging modalities detects a prevalence of approximately 10%. In contrast, these more sensitive methods allow for more sensitive examination that includes the retina perimeter where sickle retinopathy is often first detectable. Use of these new imaging modalities may detect a higher prevalence of early sickle pathology among children than has previously been reported. Earlier detection may help in better understanding the pathogenesis of sickle retinopathy and guide future screening and treatment paradigms.
Cahill, Lindsay S; Gazdzinski, Lisa M; Tsui, Albert Ky; Zhou, Yu-Qing; Portnoy, Sharon; Liu, Elaine; Mazer, C David; Hare, Gregory Mt; Kassner, Andrea; Sled, John G
Cerebral ischemia is a significant source of morbidity in children with sickle cell anemia; however, the mechanism of injury is poorly understood. Increased cerebral blood flow and low hemoglobin levels in children with sickle cell anemia are associated with increased stroke risk, suggesting that anemia-induced tissue hypoxia may be an important factor contributing to subsequent morbidity. To better understand the pathophysiology of brain injury, brain physiology and morphology were characterized in a transgenic mouse model, the Townes sickle cell model. Relative to age-matched controls, sickle cell anemia mice demonstrated: (1) decreased brain tissue pO 2 and increased expression of hypoxia signaling protein in the perivascular regions of the cerebral cortex; (2) elevated basal cerebral blood flow , consistent with adaptation to anemia-induced tissue hypoxia; (3) significant reduction in cerebrovascular blood flow reactivity to a hypercapnic challenge; (4) increased diameter of the carotid artery; and (5) significant volume changes in white and gray matter regions in the brain, as assessed by ex vivo magnetic resonance imaging. Collectively, these findings support the hypothesis that brain tissue hypoxia contributes to adaptive physiological and anatomic changes in Townes sickle cell mice. These findings may help define the pathophysiology for stroke in children with sickle cell anemia.
Unal, Sule; Chui, David H K; Gumruk, Fatma
A 16-year-old boy who was diagnosed to have sickle cell anemia was referred to our center. The parental consanguinity, growth retardation and dysmorphic features prompted a search for possible Fanconi's Anemia (FA). The diepoxybutane (DEB) test was positive, confirming FA. The interaction of both diseases might account for his relatively mild phenotype in terms of both sickle cell anemia (or Hb S, HBB: c.20A > T) and FA. The high Hb F level that might be related to concomitant FA, may have caused a milder phenotype of sickle cell anemia, whereas nitric oxide (NO) depletion as a consequence of sickle cell anemia, may have caused a delay in the bone marrow failure of FA.
Hsu, Lewis L.; Green, Nancy S.; Ivy, E. Donnell; Neunert, Cindy; Smaldone, Arlene; Johnson, Shirley; Castillo, Sheila; Castillo, Amparo; Thompson, Trevor; Hampton, Kisha; Strouse, John J.; Stewart, Rosalyn; Hughes, TaLana; Banks, Sonja; Smith-Whitley, Kim; King, Allison; Brown, Mary; Ohene-Frempong, Kwaku; Smith, Wally R.; Martin, Molly
Community health workers are increasingly recognized as useful for improving health care and health outcomes for a variety of chronic conditions. Community health workers can provide social support, navigation of health systems and resources, and lay counseling. Social and cultural alignment of community health workers with the population they serve is an important aspect of community health worker intervention. Although community health worker interventions have been shown to improve patient-centered outcomes in underserved communities, these interventions have not been evaluated with sickle cell disease. Evidence from other disease areas suggests that community health worker intervention also would be effective for these patients. Sickle cell disease is complex, with a range of barriers to multifaceted care needs at the individual, family/friend, clinical organization, and community levels. Care delivery is complicated by disparities in health care: access, delivery, services, and cultural mismatches between providers and families. Current practices inadequately address or provide incomplete control of symptoms, especially pain, resulting in decreased quality of life and high medical expense. The authors propose that care and care outcomes for people with sickle cell disease could be improved through community health worker case management, social support, and health system navigation. This report outlines implementation strategies in current use to test community health workers for sickle cell disease management in a variety of settings. National medical and advocacy efforts to develop the community health workforce for sickle cell disease management may enhance the progress and development of “best practices” for this area of community-based care. PMID:27320471
Glaser, A.M.; Chen, D.C.P.; Siegel, M.E.; Norris, S.L.; Haywood, L.J.
We reviewed the nuclear medicine files of all patients enrolled in the sickle cell disease clinic who had had scans performed within the previous 5 years. We specifically looked for patterns of tracer uptake in these scans that would correlate with the severe anemia and consequent bone marrow hyperactivity of sickle cell patients. Thirty-three patients were included (21 men and 12 women) with a mean age of 26.8 years (range 17-48 years). The appearance of each of these patients' most recent scans was examined in the areas of the distal femurs, the proximal tibias and the distal tibias; a distinct triangular shaped pattern of increased activity was identified in these areas in a majority of patients. Thirty-three patients without sickle cell disease served as age-matched controls. This pattern was seen in 65.1% (95 out of 146 images) of the sickle cell patients' delayed images and 80.4% (82 out of 102 images) of their blood pool images. In contrast, the control patients demonstrated the triangular pattern in none of their blood pool studies (0%) and only 10.9% of their delayed bone images (P<0.001). The mean age of sickle cell patients with this pattern is 25.6 years which was significantly lower than that of those without this pattern (mean=37.5 years, P<0.05). Given the high prevalence of this unique scintigraphic pattern in a group of patients with known accelerated bone marrow function, these findings may be scintigraphic evidence of bone marrow expansion. The patient's age appears to be an important factor in visualization of this pattern. (orig.)
Adjepong, Kwame Ofori; Otegbeye, Folashade; Adjepong, Yaw Amoateng
Over 30 million people worldwide have sickle cell disease (SCD). Emergent and non-emergent surgical procedures in SCD have been associated with relatively increased risks of peri-operative mortality, vaso-occlusive (painful) crisis, acute chest syndrome, post-operative infections, congestive heart failure, cerebrovascular accident and acute kidney injury. Pre-operative assessment must include a careful review of the patient's known crisis triggers, baseline hematologic profile, usual transfusion requirements, pre-existing organ dysfunction and opioid use. Use of preoperative blood transfusions should be selective and decisions individualized based on the baseline hemoglobin, surgical procedure and anticipated volume of blood loss. Intra- and post-operative management should focus on minimizing hypoxia, hypothermia, acidosis, and intravascular volume depletion. Pre- and post-operative incentive spirometry use should be encouraged.
McGann, Patrick T.; Nero, Alecia C.; Ware, Russell E.
Proper management of sickle cell anemia (SCA) begins with establishing the correct diagnosis early in life, ideally during the newborn period. The identification of affected infants by neonatal screening programs allows early initiation of prophylactic penicillin and pneumococcal immunizations, which help prevent overwhelming sepsis. Ongoing education of families promotes the early recognition of disease-released complications, which allows prompt and appropriate medical evaluation and therapeutic intervention. Periodic evaluation by trained specialists helps provide comprehensive care, including transcranial Doppler examinations to identify children at risk for primary stroke, plus assessments for other parenchymal organ damage as patients become teens and adults. Treatment approaches that previously highlighted acute vaso-occlusive events are now evolving to the concept of preventive therapy. Liberalized use of blood transfusions and early consideration of hydroxyurea treatment represent a new treatment paradigm for SCA management. PMID:23709685
Risk perception in women with high risk pregnancies affects the decisions they make about antenatal care and so may therefore influence the wellbeing of mother and baby. This article addresses the factors which influence women when making risk assessments and how these assessments may differ from those of healthcare professionals.\\ud \\ud Women use multiple sources of information to determine their risk status including advice from professionals, from other trusted sources, and their own intui...
Iannucci, Glen J; Adisa, Olufolake A; Oster, Matthew E; McConnell, Michael; Mahle, William T
Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.
Aim: To assess the psycho social problems encountered in parenting sickle-cell children in Enugu. Method: The subjects include all parents, guardian, foster parents of sickle cell children who have the responsibility of caring for sickle-cell children and who have attended the sickle-cell clinic of the UNTH between June to ...
Hershberger, Patricia E; Gallo, Agatha M; Molokie, Robert; Thompson, Alexis A; Suarez, Marie L; Yao, Yingwei; Wilkie, Diana J
To gain an in-depth understanding of the perceptions of young adults with sickle cell disease and sickle cell trait about parenthood and participating in the CHOICES randomized controlled trial that used computer-based, educational programmes. In the USA, there is insufficient education to assure that all young adults with sickle cell disease or sickle cell trait understand genetic inheritance risks and reproductive options to make informed reproductive decisions. To address this educational need, we developed a computer-based, multimedia program (CHOICES) and reformatted usual care into a computer-based (e-Book) program. We then conducted a two-year randomized controlled trial that included a qualitative component that would deepen understanding of young adults' perceptions of parenthood and use of computer-based, educational programmes. A qualitative descriptive approach completed after a randomized controlled trial. Sixty-eight men and women of childbearing age participated in semi-structured interviews at the completion of the randomized controlled trial from 2012-2013. Thematic content analysis guided the qualitative description. Three main themes were identified: (1) increasing knowledge and new ways of thinking and behaving; (2) rethinking parenting plans; and (3) appraising the program design and delivery. Most participants reported increased knowledge and rethinking of their parenting plans and were supportive of computer-based learning. Some participants expressed difficulty in determining individual transmission risks. Participants perceived the computer programs as beneficial to their learning. Future development of an Internet-based educational programme is warranted, with emphasis on providing tailored education or memory boosters about individual transmission risks. © 2015 John Wiley & Sons Ltd.
Crowley, J.J.; Sarnaik, S.
Sickle cell disease is an important health care issue in the United States and in certain areas in Africa, the Middle East and India. Although a great deal of progress has been made in understanding the disease at the molecular and pathophysiologic level, specific treatment which is safe and accessible for most patients is still elusive. Going into the next millennium, the management of this disease is still largely dependent on early diagnosis and the treatment of complications with supportive care. Thus, diagnosis and evaluation of the complications of the disease are crucial in directing clinical care at the bedside. Modern imaging modalities have greatly improved, and their application in the patient with the sickling disorders has enhanced the decision - making process. The purpose of this article is to review the clinical aspects of common complications of the disease and to discuss imaging approaches which are useful in their evaluation. (orig.)
Full Text Available β-thalassemias and sickle cell anemia (SCA are the most common monogenic diseases worldwide for which curative treatments remain a desired goal. Allogeneic hematopoietic stem cell transplantation (allo-HCT, - the only curative treatment currently available for hemoglobinopaties-, has a narrow application window whereas it incurs several immunological risks. Gene therapy (GT, that is the autologous transplantation of genetically modified hematopoietic stem cells (CD34+, represents a promising new therapeutic strategy which is anticipated to reestablish effective hemoglobin production and render patients transfusion- and drug- independent without the immunological complications that normally accompany allo-HCT. Prior to the application of GT for hemoglobinopathies in the clinic, many years of extensive preclinical research were spent for the optimization of the gene transfer tools and conditions. To date, three GT clinical trials for β-thalassemia and sickle cell disease (SCD have been conducted or are in progress and 3 cases of transfusion independence in thalassemic β0/βΕ patients have been reported. In the present review, the prerequisites for successful implementation of GT, the tough pathway of GT for hemoglobinopathies towards the clinic and the knowledge gained from the first clinical trials as well as the remaining questions and challenges, will be discussed. Overall, after decades of research including achievements but pitfalls as well, the path to GT of human patients with hemoglobinopathies is currently open and highly promising...
Demirci, Selami; Uchida, Naoya; Tisdale, John F
Sickle cell disease (SCD) is one of the most common life-threatening monogenic diseases affecting millions of people worldwide. Allogenic hematopietic stem cell transplantation is the only known cure for the disease with high success rates, but the limited availability of matched sibling donors and the high risk of transplantation-related side effects force the scientific community to envision additional therapies. Ex vivo gene therapy through globin gene addition has been investigated extensively and is currently being tested in clinical trials that have begun reporting encouraging data. Recent improvements in our understanding of the molecular pathways controlling mammalian erythropoiesis and globin switching offer new and exciting therapeutic options. Rapid and substantial advances in genome engineering tools, particularly CRISPR/Cas9, have raised the possibility of genetic correction in induced pluripotent stem cells as well as patient-derived hematopoietic stem and progenitor cells. However, these techniques are still in their infancy, and safety/efficacy issues remain that must be addressed before translating these promising techniques into clinical practice. Published by Elsevier Inc.
Shephard, Roy J
Eight percent of African Americans are carriers of the sickle cell trait. Some regard this as a benign anomaly, but others point to incidents of sudden exercise-related death, calling for a preliminary screening of either all athletes or those of African-American ancestry. This brief review considers the costs and benefits of such screening. The Ovid/Health Star data-base was searched from 1996 to June 2015. 2014. The terms "exercise", "exercise therapy", "sports", "athletes", "physical activity/motor activity" and "physical fitness" were combined to yield 227,120 citations. Likewise, the terms "sickle cell trait", "sickle cell disease", "splenic infarction", "hemoglobin S" and "rhabdomyolysis" identified 12,325 citations. A combination of the 2 searches yielded 416 abstracts. Excluding items relating to animal research or forms of rhabdomyolysis other than sickling left 375 abstracts; 115 papers merited full examination. This material covered the risks of sickle cell trait and of screening (55 items), effects upon physical performance (31 items), cellular mechanisms (23 items), nutrition (4 items), and other topics (2 items). Supplemented material was drawn from reference lists and personal files. The tendency to sickling was provoked by excessive exercise relative to physical condition in hot or hypoxic conditions, and by local tissue acidosis, conditions that were best avoided by all athletes. The condition had little impact upon physical performance, but the relative risks of heat illness, exertional rhabdomyolysis, splenic infarction and sudden death were all increased by the sickle cell trait. The absolute number of critical incidents was nevertheless small, calling for close assessment of the costs and putative benefits of widespread screening. Sports physicians should be aware of the clinical picture of sickling and be prepared to treat it. Screening may be cost-effective if targeted to black athletes involved in certain sports, although it has yet to be
Sickle erythrocytes enhance phenylephrine and histamine contractions of isolated rabbit carotid arteries. ... enhancement of histamine contractions, compared with phenylephrine (in AS and SS), suggests a possible role for histamine in the increased vascular tone and vaso-occlusive crisis in sickle cell disease.
Tetrault, Sylvia M.
Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)
the influence of sickle erythrocyte on contractile responses induced by phenylephrine and histamine. ... obtained from subjects of different haemoglobin (Hb) genotypes (AA, AS and SS), under ... the sixth position of the β-chain of the hemoglobin S. Address for ... blood pressure values in sickle cell anaemia subjects as.
Rausch, H.; Tran, V.T.; Boeckmann, U.; Duesseldorf Univ.
Case report of a 28 year old black sickle cell anemia patient with salmonella osteomyelitis of the radius. Aside from sickle cell anemia patients this skeletal complication of enteric salmonellosis is an extreme rarity. Description of the typical roentgenological features includes intracortical fissures and sequestration. (orig.) [de
Sun, Yu-Yo; Lee, Jolly; Huang, Henry; Wagner, Mary B; Joiner, Clinton H; Archer, David R; Kuan, Chia-Yi
The effects of lytic stroke therapy in patients with sickle cell anemia are unknown, although a recent study suggested that coexistent sickle cell anemia does not increase the risk of cerebral hemorrhage. This finding calls for systemic analysis of the effects of thrombolytic stroke therapy, first in humanized sickle mice, and then in patients. There is also a need for additional predictive markers of sickle cell anemia-associated vasculopathy. We used Doppler ultrasound to examine the carotid artery of Townes sickle mice tested their responses to repetitive mild hypoxia-ischemia- and transient hypoxia-ischemia-induced stroke at 3 or 6 months of age, respectively. We also examined the effects of tPA (tissue-type plasminogen activator) treatment in transient hypoxia-ischemia-injured sickle mice. Three-month-old sickle cell (SS) mice showed elevated resistive index in the carotid artery and higher sensitivity to repetitive mild hypoxia-ischemia-induced cerebral infarct. Six-month-old SS mice showed greater resistive index and increased flow velocity without obstructive vasculopathy in the carotid artery. Instead, the cerebral vascular wall in SS mice showed ectopic expression of PAI-1 (plasminogen activator inhibitor-1) and P-selectin, suggesting a proadhesive and prothrombotic propensity. Indeed, SS mice showed enhanced leukocyte and platelet adherence to the cerebral vascular wall, broader fibrin deposition, and higher mortality after transient hypoxia-ischemia. Yet, post-transient hypoxia-ischemia treatment with tPA reduced thrombosis and mortality in SS mice. Sickle mice are sensitive to hypoxia/ischemia-induced cerebral infarct but benefit from thrombolytic treatment. An increased resistive index in carotid arteries may be an early marker of sickle cell vasculopathy. © 2017 American Heart Association, Inc.
Higher Risk Countries and Territories. Reviewed regularly. Last update: July 26, 2013. Country/Territory. Note (1). Sources of Concern. Canadian. Law or. Policy. Knowledge of research setting. Ability to monitor research activities. (Note 2). Operational. Issues. (Note 3). Banking. Restrictions. (Note 4). Afghanistan. X. X.
Full Text Available Abstract Background Human parvovirus B19 is the etiologic agent of erythema infectiosum in children. It is also associated with other clinical manifestations in different target groups. Patients with chronic hemolytic anemia are at high risk of developing acute erythroblastopenia following infection by the virus. They usually become highly viremic and pose an increased risk of virus transmission. Close monitoring of such high risk groups is required for epidemiologic surveillance and disease prevention activities. Here we report a molecular epidemiological study on B19 virus infection in Tunisian patients with chronic hemolytic anemia. Methods This study was conducted on 92 young chronic hemolytic anemia patients who attended the same ward at the National Bone Marrow Transplantation Center of Tunis and 46 controls from a different hospital. Screening for IgM and IgG anti-B19 antibodies was performed using commercially available enzyme immunoassays and B19 DNA was detected by nested PCR in the overlapping VP1/VP2 region. DNA was sequenced using dideoxy-terminator cycle sequencing technology. Results Anti-parvovirus B19 IgG antibodies were detected in 26 of 46 sickle-cell anemia patients, 18 of 46 β-thalassemia and 7 of 46 controls. Anti-parvovirus B19 IgM antibodies were detected only in 4 of the sickle-cell anemia patients: two siblings and two unrelated who presented with acute erythroblastopenia at the time of blood collection for this study and had no history of past transfusion. B19 DNA was detected only in sera of these four patients and the corresponding 288 bp nested DNA amplicons were sequenced. The sequences obtained were all identical and phylogenetic analysis showed that they belonged to a new B19 virus strain of Genotype1. Conclusion A new parvovirus B19 strain of genotype1 was detected in four Tunisian patients with sickle-cell anemia. Virus transmission appeared to be nosocomial and resulted in acute erythroblastopenia in the four
Thomas, Vincent; Mazard, Blandine; Garcia, Caroline; Lacan, Philippe; Gagnieu, Marie-Claude; Joly, Philippe
Minucci et al. have proposed in 2010 a rapid, simple and cost-effective HRM method on the LightCycler 480® apparatus (Roche) for the determination of the 6/6, 6/7 and 7/7 genotypes of the (TA)n UGT1A1 promoter polymorphism. However, they have not studied the n=5 and n=8 alleles which can be quite frequent in sickle-cell disease patients. The aim of our study was to test this HRM protocol to all the 10 possible (TA)n UGT1A1 genotypes (i.e. 5/5, 5/6, 5/7, 5/8, 6/6, 6/7, 6/8, 7/7, 7/8 and 8/8) by using our SCD cohort of patients. All genotypes could be unambiguously identified except 6/7 and 6/8 which give a similar HRM profile. For those two genotypes, the differentiation necessitates either a direct Sanger sequencing or a second PCR protocol followed by a 3% agarose gel migration. For the (TA)n UGT1A1 promoter genotyping of African patients, each lab has to wonder what is the best way between (i) direct Sanger sequencing of all patients and (ii) HRM protocol for all patients followed by a complementary analysis to differentiate the 6/7 and 6/8 genotypes. © 2013. Published by Elsevier B.V. All rights reserved.
McLaughlin, Joseph F; Ballas, Samir K
Chronic blood transfusion is the standard of care in the management of overt stroke due to sickle cell anemia (SS) to prevent recurrence of stroke. The problem arises when children are transitioned to adult care where blood transfusion may be discontinued. The purpose of this study was to report the outcome of 22 patients with SS and overt stroke who were transitioned to our adult program between 1993 and 2009. Transitioned patients were kept on chronic blood transfusion they had as children. Blood bank data were performed and computerized according to FDA and AABB regulations. Records were kept prospectively. Blood counts and percent hemoglobin (Hb)S were obtained before and after transfusion. HbS was kept below 30% after transfusion. Metabolic profiles were obtained every 6 months or more often if needed. Statistical analysis was by the two-tailed t-test. Patients who were compliant with blood transfusion were rarely hospitalized for painful crises. Alloimmunization and iron overload were the major complications of blood transfusion. Eight patients who refused to be maintained on chronic blood transfusion or who were noncompliant died within 1 to 5 years after transition. Causes of death included stroke in two, sudden in three, and multiorgan failure in three. The overall rate of death after transition was 36% and the major cause was discontinuation of blood transfusion. Efforts must be made to maintain adequate chronic simple or exchange blood transfusion for children with SS and stroke after transition to adult care. © 2015 AABB.
Md. Abdul Aziz
Full Text Available A 20 year old female presented with a history of frequent syncopal attack since her childhood. Each episode persisted 5-10 min without having any aggravating factor or prodrome. She had persistent generalized bodyache aggravating during the winter. She had jaundice and episodic abdominal pain. She received 1 unit of blood transfusion 4 months back and improved sympto-matically. Patient was mildly anemic, moderately icteric and had mild splenomegaly. Over these long periods of her illness she was thoroughly evaluated several times. Her biochemical and neurological evaluation revealed no abnormalities. But she was treated with anticonvulsant for long time empirically without significant improvement. Her CBC showed microcytic hypochromic anemia. She was negative for Wilson’s disease. Reticulocyte count was high. Coomb’s test was negative. Osmotic fragility test was positive. Hemoglobin electrophoresis revealed Hb-S 60%. Sickling test was found positive. Finally it was diagnosed as a case of HbS/β+.
Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali
Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presente...
Bomfim, V; Ribeiro, A; Gouvea, F; Pereira, J; Björk, V
An 8-year-old black boy with sickle cell disease and severe hemolytic anemia crisis (95% hemoglobin S) also had mitral incompetence due to rheumatic valve disease. A 27 mm monostrut Björk-Shiley valve prosthesis was implanted after partial exchange transfusions had reduced the hemoglobin S to less than 40%. High-flow normothermic perfusion was used during extracorporeal circulation, with care taken to avoid hypoxia and acidosis. Postoperative recovery was uneventful.
Cotrina Luque, J; Guerrero Aznar, M D; Alvarez del Vayo Benito, C; Jimenez Mesa, E; Guzman Laura, K P; Fernández Fernández, L
«High-risk drugs» are those that have a very high «risk» of causing death or serious injury if an error occurs during its use. The Institute for Safe Medication Practices (ISMP) has prepared a high-risk drugs list applicable to the general population (with no differences between the pediatric and adult population). Thus, there is a lack of information for the pediatric population. The main objective of this work is to develop a high-risk drug list adapted to the neonatal or pediatric population as a reference model for the pediatric hospital health workforce. We made a literature search in May 2012 to identify any published lists or references in relation to pediatric and/or neonatal high-risk drugs. A total of 15 studies were found, from which 9 were selected. A model list was developed mainly based on the ISMP one, adding strongly perceived pediatric risk drugs and removing those where the pediatric use was anecdotal. There is no published list that suits pediatric risk management. The list of pediatric and neonatal high-risk drugs presented here could be a «reference list of high-risk drugs » for pediatric hospitals. Using this list and training will help to prevent medication errors in each drug supply chain (prescribing, transcribing, dispensing and administration). Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.
Gimovsky, Alexis C; Fritton, Kate; Viscusi, Eugene; Roman, Amanda
Sickle cell crises occur frequently during pregnancy and are difficult to treat, even with high-dose opioids. Analgesia with ketamine has been suggested as an alternative, but its use during pregnancy is underreported. Two pregnant patients with uncontrolled sickle cell pain were treated with ketamine. Patient A reported no decrease in her pain, but her opioid requirements decreased. Patient B's pain resolved during ketamine administration. No serious maternal or neonatal adverse effects occurred. Ketamine may be considered as an adjunct analgesic in pregnant patients with sickle cell pain, although prospective clinical data are needed to fully assess its efficacy.
Anie, Kofi A; Green, John
Sickle cell disease comprises a group of genetic blood disorders. It occurs when the sickle haemoglobin gene is inherited from both parents. The effects of the condition are: varying degrees of anaemia which, if severe, can reduce mobility; a tendency for small blood capillaries to become blocked causing pain in muscle and bone commonly known as 'crises'; damage to major organs such as the spleen, liver, kidneys, and lungs; and increased vulnerability to severe infections. There are both medical and non-medical complications, and treatment is usually symptomatic and palliative in nature. Psychological interventions for individuals with sickle cell disease might complement current medical treatment, and studies of their efficacy have yielded encouraging results. This is an update of a previously published Cochrane Review. To examine the evidence that psychological interventions improve the ability of people with sickle cell disease to cope with their condition. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises references identified from comprehensive electronic database searches and the Internet, handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 17 February 2015. All randomised or quasi-randomised controlled trials comparing psychological interventions with no (psychological) intervention in people with sickle cell disease. Both authors independently extracted data and assessed the risk of bias of the included studies. Twelve studies were identified in the searches and seven of these were eligible for inclusion in the review. Five studies, involving 260 participants, provided data for analysis. One study showed that cognitive behaviour therapy significantly reduced the affective component of pain (feelings about pain), mean difference -0.99 (95% confidence interval -1.62 to -0.36), but
Yousaf, U.F.; Hayat, S.
High risk deliveries are usually associated with increased neonatal mortality and morbidity. Neonatal resuscitation can appreciably affect the outcome in these types of deliveries. Presence of personnel trained in basic neonatal resuscitation at the time of delivery can play an important role in reducing perinatal complications in neonates at risk. The study was carried out to evaluate the effects of newborn resuscitation on neonatal outcome in high risk deliveries. Methods: This descriptive case series was carried out at the Department of Obstetrics and Gynecology, Jinnah Hospital, Lahore. Ninety consecutive high risk deliveries were included and attended by paediatricians trained in newborn resuscitation. Babies delivered by elective Caesarean section, normal spontaneous vaginal deliveries and still births were excluded. Neonatal resuscitation was performed in babies who failed to initiate breathing in the first minute after birth. Data was analyzed using SPSS-16.0. Results: A total of 90 high risk deliveries were included in the study. Emergency caesarean section was the mode of delivery in 94.4% (n=85) cases and spontaneous vaginal delivery in 5.6% (n=5). Preterm pregnancy was the major high risk factor. Newborn resuscitation was required in 37.8% (n=34) of all high risk deliveries (p=0.013). All the new-borns who required resuscitation survived. Conclusion: New-born resuscitation is required in high risk pregnancies and personnel trained in newborn resuscitation should be available at the time of delivery. (author)
Solomon, Rance; Cooper, James; Welker, Gabriel; Aguilar, Elaura; Flanagan, Brooke; Pennycuff, Chelsey; Scott, David; Farone, Anthony; Farone, Mary; Erenso, Daniel; Mushi, Robert; del Pilar Aguinaga, Maria
Genetic mutation of the β-globin gene or inheritance of this mutated gene changes the chemical composition of the oxygen-carrying hemoglobin molecule that could lead to either the heterozygote genotype, resulting in sickle cell trait (SCT), or the homozygote genotype, resulting in sickle cell anemia (SCA). These mutations could affect the reversible elastic deformations of the red blood cells (RBCs) which are vital for biological functions. We have investigated this effect by studying the differences in the deformability of RBCs from blood samples of an individual with SCT and an untreated patient with SCA along with hemoglobin quantitation of each blood sample. Infrared 1064 nm laser trap force along with drag shear force are used to induce deformation in the RBCs. Ultra2-High Performance Liquid Chromatography (UHPLC) is used for the hemoglobin quantitation.
Martinez, S.; Apple, J.S.; Baber, C.; Putman, C.E.; Rosse, W.F.
Of 155 adults with sickle-cell anemia (SS, SC), radiographs of the pelvis or hip demonstrated protrusio acetabuli on at least one side in 14 (3 men and 11 women), as indicated by projection of the acetabular line medial to the ilio-ischial line. All 14 patients had bone changes attributable to sickle-cell anemia, including marrow hyperplasia and osteonecrosis; however, the severity of femoral or acetabular osteonecrosis did not appear directly related to the protrusion. The authors conclude that sickle-cell anemia can predispose to development of protrusio acetabuli
Steinberg, Martin H.; Sebastiani, Paola
Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident ∝ thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new “druggable” pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease. PMID:22641398
Full Text Available Abstract Background: Treatment of sickle cell anemia is a challenging task and despite the well understood genetic and biochemical pathway of sickle hemoglobin, current therapy continues to be limited to the symptomatic treatment of pain, supplemental oxygen, antibiotics, red blood cell transfusions and hydroxyurea. SANGUINATE is a carbon monoxide releasing molecule and oxygen transfer agent under clinical development for the treatment of sickle cell anemia and comorbidities. Methods: An open-label randomized Phase Ib study was performed in adult sickle cell anemia patients. Two dose levels of SANGUINATE were compared to hydroxyurea in 24 homozygotes for Hb SS. Twelve subjects received either a low dose (160 mg/kg of SANGUINATE or 15 mg/kg hydroxyurea. Another 12 subjects received either a high dose (320 mg/kg of SANGUINATE or 15 mg/kg hydroxyurea. The primary endpoint was the safety of SANGUINATE versus hydroxyurea in sickle cell anemia patients. Secondary endpoints included determination of the plasma pharmacokinetics and assessment of hematologic measurements. Results: Musculoskeletal related adverse events were the most common. Transient troponin I levels increased in three patients, one of whom had an increase in tricuspid regurgitant velocity; however, no clinical signs were noted. Following an assessment of vital signs, tricuspid regurgitant velocity, electrocardiogram, serum biochemistry, hematology, urinalysis, and analysis of reported adverse events, SANGUINATE was found to be safe in stable sickle cell anemia patients. Conclusions: The clinical trial met its primary objective of demonstrating an acceptable safety profile for SANGUINATE in patients with sickle cell anemia. This trial established the safety of SANGUINATE at both dose levels and permitted its advance to Phase II trials.
Perry, Natasha; Newman, Louise K; Hunter, Mick; Dunlop, Adrian
Antenatal substance use and related psychosocial risk factors are known to increase the likelihood of child protection involvement; less is known about the predictive nature of maternal reflective functioning (RF) in this population. This preliminary study assessed psychosocial and psychological risk factors for a group of substance dependent women exposed to high risks in pregnancy, and their impact on child protection involvement. Pregnant women on opiate substitution treatment (n = 11) and a comparison group (n = 15) were recruited during their third trimester to complete measures of RF (Pregnancy Interview), childhood trauma, mental health and psychosocial assessments. At postnatal follow-up, RF was reassessed (Parent Development Interview - Revised Short Version) and mother-infant dyads were videotaped to assess emotional availability (EA). Child protection services were contacted to determine if any concerns had been raised for infant safety. Significant between-group differences were observed for demographics, psychosocial factors, trauma and mental health symptoms. Unexpectedly, no significant differences were found for RF or EA between groups. Eight women in the 'exposed to high risks' group became involved with child protection services. Reflective functioning was not significantly associated with psychosocial risk factors, and therefore did not mediate the outcome of child protection involvement. Women 'exposed to high risks' were equally able to generate a model of their own and their infants' mental states and should not be seen within a deficit perspective. Further research is required to better understand the range of risk factors that predict child protection involvement in high risk groups. © The Author(s) 2013.
Lagunju, IkeOluwa; Sodeinde, Olugbemiro; Brown, Biobele; Akinbami, Felix; Adedokun, Babatunde
Transcranial Doppler (TCD) sonography of major cerebral arteries is now recommended for routine screening for stroke risk in children with sickle cell disease (SCD). We performed TCD studies on children with sickle cell anemia (SCA) seen at the pediatric hematology clinic over a period of 2 years. TCD scans were repeated yearly in children with normal flow velocities and every 3 months in children with elevated velocities. Findings were correlated with clinical variables, hematologic indices, and arterial oxygen saturation. Predictors of elevated velocities were identified by multiple linear regressions. We enrolled 237 children and performed a total of 526 TCD examinations. Highest time-averaged maximum flow velocities were ≥170 cm/s in 72 (30.3%) cases and ≥200 cm/s in 20 (8.4%). Young age, low hematocrit, low hemoglobin, and arterial oxygen desaturation <95% showed significant correlations with presence of increased cerebral flow velocities. Low hematocrit, low hemoglobin concentration, young age, and low arterial oxygen desaturation predicted elevated cerebral blood flow velocities and, invariably, increased stroke risk, in children with SCA. Children who exhibit these features should be given high priority for TCD examination in the setting of limited resources. Copyright © 2013 Wiley Periodicals, Inc.
Habara, Alawi H; Shaikho, Elmutaz M; Steinberg, Martin H
Fetal hemoglobin (HbF) has well-known tempering effects on the symptoms of sickle cell disease and its levels vary among patients with different haplotypes of the sickle hemoglobin gene. Compared with sickle cell anemia haplotypes found in patients of African descent, HbF levels in Saudi and Indian patients with the Arab-Indian (AI) haplotype exceed that in any other haplotype by nearly twofold. Genetic association studies have identified some loci associated with high HbF in the AI haplotype but these observations require functional confirmation. Saudi patients with the Benin haplotype have HbF levels almost twice as high as African patients with this haplotype but this difference is unexplained. Hydroxyurea is still the only FDA approved drug for HbF induction in sickle cell disease. While most patients treated with hydroxyurea have an increase in HbF and some clinical improvement, 10 to 20% of adults show little response to this agent. We review the genetic basis of HbF regulation focusing on sickle cell anemia in Saudi Arabia and discuss new drugs that can induce increased levels of HbF. © 2017 Wiley Periodicals, Inc.
Crosby, Lori E.; Joffe, Naomi E.; Irwin, Mary Kay; Strong, Heather; Peugh, James; Shook, Lisa; Kalinyak, Karen A.; Mitchell, Monica J.
Sickle cell disease (SCD) results in neuropsychological complications that place adolescents at higher risk for limited educational achievement. A first step to developing effective educational interventions is to understand the impact of SCD on school performance. The current study assessed perceptions of school performance, SCD interference and…
Goldsmith, Jonathan C; Bonham, Vence L; Joiner, Clinton H; Kato, Gregory J; Noonan, Allan S; Steinberg, Martin H
Sickle Cell Trait (HbAS), the heterozygous state for the sickle hemoglobin beta globin gene is carried by as many as 100 million individuals including up to 25% of the population in some regions of the world (World Health Organization, Provisional agenda item 4.8, EB117/34 (22 December 2005) or World Health Organization, Provisional agenda item 11.4 (24 April 2006)). Persons with HbAS have some resistance to falciparum malaria infection in early childhood (Piel FB, Patil AP, Howes RE, et al., Nat Commun 2010;1104:1-7 and Aidoo M, Terlouw DJ, Kolczak M, et al., Lancet 2002;359:1311-1312) and as a result individuals with HbAS living in malarial endemic regions of Africa have a survival advantage over individuals with HbAA. Reports from the US emphasize possible health risks for individuals with HbAS including increased incidence of renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related sudden death. The National Heart, Lung, and Blood Institute, National Institutes of Health convened a workshop in Bethesda, Maryland on June 3-4, 2010, Framing the Research Agenda for Sickle Cell Trait, to review the clinical manifestations of HbAS, discuss the exercise-related sudden death reports in HbAS, and examine the public health, societal, and ethical implications of policies regarding HbAS. The goal of the workshop was to identify potential research questions to address knowledge gaps.
Dalmeir, Michael; Gataullin, Yunir; Indrajit, Agung
HERMES (Highly Enhanced Risk Management Emergency Satellite) is potential European satellite mission for global flood management, being implemented by Technical University Munich and European Space Agency. With its main instrument - a reliable and precise Synthetic Aperture Radar (SAR) antenna...
Stewart, Camille L; Ménard, Geraldine E
Sickle cell-induced ischemic colitis is a rare yet potentially fatal complication of sickle cell anemia. Frequent pain crises with heavy analgesia may obscure and prolong this important diagnosis. Our patient was a 29-year-old female with sickle cell disease who was admitted with left lower quadrant abdominal pain. A diagnostic workup, including chemistries, complete blood count, blood cultures, chest x-ray, computerized tomography scanning, and colonoscopy, was performed to identify the etiology of her symptoms. This case highlights the importance of differentiating simple pain crisis from more serious and life-threatening ischemic bowel. A review of the literature compares this case to others reported and gives a method for diagnosing and treating this complication of sickle cell disease.
... My doctor wants to screen me for pulmonary hypertension. Why is this? Sickle cell disease (SCD), a ... What are some of the symptoms of pulmonary hypertension? Because they are somewhat general symptoms, the characteristics ...
Falk, Erling; Sillesen, Henrik; Muntendam, Pieter
The High-Risk Plaque (HRP) Initiative is a research and development effort to advance the understanding, recognition, and management of asymptomatic individuals at risk for a near-term atherothrombotic event such as myocardial infarction or stroke. Clinical studies using the newest technologies...... have been initiated, including the BioImage Study in which novel approaches are tested in a typical health plan population. Asymptomatic at-risk individuals were enrolled, including a survey-only group (n = 865), a group undergoing traditional risk factor scoring (n = 718), and a group in which all...
Tosteson, D. C.; Carlsen, E.; Dunham, E. T.
The conversion of red cells of patients with sickle cell anemia (S-S) from biconcave disk to sickle shape by removal of oxygen was found to increase the fraction of medium trapped in cells packed by centrifugation from 0.036 (S.E. 0.003) to 0.106 (S.E. 0.004). The fraction of water in the cells (corrected for trapped medium) was not affected by this shape transformation. Cation transport, however, was changed profoundly. S-S cells incubated in N2 rather than O2 showed net K loss with acceleration of both influx and outflux. That this change in K transport was due to the process of sickling was indicated by (1) the persistence of the effect in the absence of plasma, (2) the absence of the effect in hypoxic S-S cells in which sickling was inhibited by alkali or carbon monoxide, (3) the reversal of the effect when sickling was reversed by exposure to O2, and (4) the independence of the effect from such potentially important factors as age of the cell population. The acceleration of K transport by sickling is probably mediated by modification of the cell surface rather than the cell interior since concentrated sickle hemoglobin solutions in O2 or N2 did not show selective affinity for K. In molecular terms, the effect of sickling on K transport can be explained by presuming that the shape change (1) opens pathways for the free diffusion of K, and (2) accelerates K transport by a non-diffusion carrier process. The evidence for the former mechanism included (a) dependence of K influx into sickled cells on the concentration of K in the medium, and (b) increase in the total cation content of sickled cells with increasing pH. Observations suggestive of a carrier process included (a) the failure of sickled cell K concentration to become equal to external K concentration even after 48 hours, (b) the deviation of the flux ratio from that characteristic of diffusion, and (c) the dependence of K influx on glycolysis. PMID:13252234
Busari, A A; Mufutau, M A
Attention and interest in the use of complementary and alternative medicine (CAM) has been reignited globally, most especially in patients with chronic diseases. Sickle cell disease (SCD) is one of such chronic diseases associated with devastating clinical and psychosocial consequences, thus leading those affected to seek alternative treatment apart from orthodox medicine. Hence, this study aimed to determine the prevalence, pattern and tolerability of the use of CAM in patients with SCD in the Lagos University Teaching Hospital (LUTH). This was a cross-sectional survey of 200 respondents with SCD attending the hematology clinics of the Lagos University Teaching Hospital over a period of 3 months. Data on socio-demographic characteristic, clinical profile, the types and sources of CAM used were collected using a well structured pretested questionnaire. The data obtained were analyzed using Statistical Package for Social Sciences (SPSS®) version 17. Of the 200 patients who participated in the study, 113; 56.5% were males and 87; 43.5% were females. Majority of the SCD patients were 1-10 years old and their mean age was 18.8 ± 14.39 years. CAM was reportedly used by 88.5% of the respondents. Biological (herbal) products 156; 62.9% were the most commonly used CAM, followed by alternative medical systems 52; 20.9% and mind-body interventions 30; 12.1%. Relations, friends and neighbors influenced 85.2% of CAM users by recommending CAM to them. Tolerability of CAM was perceived to be excellent as only 33 (18.6%) of the respondents abandoned the use of CAM. Comparing CAM users and CAM non-users, there was no statistical significant difference in the proportion of those >18 years (45.76% vs 52.17%; p = 0.658), those who experienced two or more crises (51.41% vs 34.78%; p = 0.183), and those with stable haemoglobin concentration of >7 g/dL (15.81% vs 8.69%; p = 0.539) More patients among CAM non-users (91.30%) significantly spend over 3000 Naira (USD 15) per
Full Text Available Background: Sickle cell anaemia is an inherited disease in which the red blood cells become rigid and sticky, and change from being disc-shaped to being crescent-shaped. The change in shape is due to the presence of an abnormal form of haemoglobin. This results in severe pain and damage to some organs. Aim and Objective: The study was carried out to determine the levels of cytokine in sickle cell anemia. Material and Methods: Thirty confirmed sickle cell patients in steady state (HbSS-SS and thirty persons with normal haemoglobin (HbAA as well as sixteen sickle cell disease in crises (HbSS-cr between the ages of 15 to 30 years were selected in this study. Cytokines including interleukin 1 beta (IL- 1β, interleukin 2 (IL- 2, interleukin (IL-6, tumour necrosis factor alpha (TNF-α, and interferon gamma (IFN- λ were measured by commercially available ELISA kits. Results: The results obtained showed that the levels of TNF-α and IL-6 in sickle cell anaemia patients in crisis were significantly elevated when compared with sickle cell in steady state (P<0.05. Similarly, the levels of IL-1β, IL-6, and IFN- λ were significantly increased in sickle cell anaemia stable state when compared to HbAA subjects (P<0.05. Conclusion: This may probably implies that cytokine imbalance is implicated in the pathogenesis of sickle cell crisis. Also, cytokines could be used as an inflammatory marker as well as related marker in disease severity and hence therapeutic intervention.
Dyson, Simon M; Atkin, Karl; Culley, Lorraine A; Dyson, Sue E; Evans, Hala
The experiences of young people living with a sickle cell disorder in schools in England are reported through a thematic analysis of forty interviews, using Bourdieu’s notions of field, capital and habitus. Young people with sickle cell are found to be habitually dys-positioned between the demands of the clinic for health maintenance through self-care and the field of the school, with its emphases on routines, consistent attendance and contextual demands for active and passive pupil behaviour. The tactics or dispositions that young people living with sickle cell can then employ, during strategy and struggle at school, are therefore fragile: they work only contingently, transiently or have the unintended consequences of displacing other valued social relations. The dispositions of the young people with sickle cell are framed by other social struggles: innovations in school procedures merely address aspects of sickle cell in isolation and are not consolidated into comprehensive policies; mothers inform, liaise, negotiate and advocate in support of a child with sickle cell but with limited success. Reactions of teachers and peers to sickle cell have the enduring potential to drain the somatic, cultural and social capital of young people living with sickle cell. PMID:21375541
... doing intense exercise, such as competitive sports or military training under unfavorable temperatures( very high or low) or conditions. Studies have shown that the chance of this problem can be reduced by avoiding dehydration and getting ...
Ramachandran, M.; Nair, C.N.; Abraham, E.C.
The biological receptor for tumor-promoting phorbol esters has been identified as the Ca 2+ /phospholipid dependent enzyme, protein kinase C. In the red cell, this enzyme is mainly cytosolic but becomes translocated to the membrane if the cellular Ca 2+ is allowed to rise. Since cellular Ca 2+ in sickle red cells is high, it was reasoned that this enzyme may become more membrane-bound. In fact, the authors noticed a four-fold increase in the binding of 3 H-PDBu by membrane ghosts isolated from sickle red cells compared to normal red cells (pmoles PDBu bound/mg protein; normal = 0.3 vs sickle cell = 1.4). Attempts to assay the enzyme directly as phospholipid-activated 32 P incorporation into the acid-precipitable membrane proteins also indicated a two-fold increase in the radiolabelling of sickle cell membrane ghosts. Autophosphorylation of membrane proteins and analysis of the phosphorylation profile by SDS-PAGE and autoradiography revealed phosphorylation predominantly of bands 3, 4.1 and 4.9 which are known protein kinase C substrates for the red cell enzyme. The increased membrane-associated protein kinase C in sickle red cells may have a bearing on the altered membrane properties reported in this condition
Full Text Available BACKGROUND: Glutathione S-transferase gene deletions are known detoxification agents and cause oxidative damage. Due to the different pathophysiology of anemia in thalassemia and sickle cell disease, there are significant differences in the pathophysiology of iron overload and iron-related complications in these disorders. OBJECTIVE: The aim of this study was to estimate the frequency of the GSTM1 and GSTT1 genotypes in sickle cell disease patients and their effect on iron status. METHODS: Forty sickle cell anemia and sixty sickle ß-thalassemia patients and 100 controls were evaluated to determine the frequency of GST gene deletions. Complete blood counts were performed by an automated cell analyzer. Hemoglobin F, hemoglobin A, hemoglobin A2 and hemoglobin S were measured and diagnosis of patients was achieved by high performance liquid chromatography with DNA extraction by the phenol-chloroform method. The GST null genotype was determined using multiplex polymerase chain reaction and serum ferritin was measured using an ELISA kit. Statistical analysis was by EpiInfo and GraphPad statistics software. RESULTS: An increased frequency of the GSTT1 null genotype (p-value = 0.05 was seen in the patients. The mean serum ferritin level was higher in patients with the GST genotypes than in controls; this was statistically significant for all genotypes except GSTM1, however the higher levels of serum ferritin were due to blood transfusions in patients. CONCLUSION: GST deletions do not play a direct role in iron overload of sickle cell patients.
Deepika S Darbari
Full Text Available BACKGROUND: Frequent painful vaso-occlusive crises (VOCs were associated with mortality in the Cooperative Study of Sickle Cell Disease (CSSCD over twenty years ago. Modern therapies for sickle cell anemia (SCA like hydroxyurea are believed to have improved overall patient survival. The current study sought to determine the relevance of the association between more frequent VOCs and death and its relative impact upon overall mortality compared to other known risk factors in a contemporary adult SCA cohort. METHODS: Two hundred sixty four SCA adults were assigned into two groups based on patient reported outcomes for emergency department (ED visits or hospitalizations for painful VOC treatment during the 12 months prior to evaluation. RESULTS: Higher baseline hematocrit (p = 0.0008, ferritin (p = 0.005, and HDL cholesterol (p = 0.01 were independently associated with 1 or more painful VOCs requiring an ED visit or hospitalization for acute pain. During a median follow-up of 5 years, mortality was higher in the ED visit/hospitalization group (relative risk [RR] 2.68, 95% CI 1.1-6.5, p = 0.03. Higher tricuspid regurgitatant jet velocity (TRV (RR 2.41, 95% CI 1.5-3.9, p < 0.0001, elevated ferritin (RR 4.00, 95% CI 1.8-9.0, p = 0.001 and lower glomerular filtration rate (RR=2.73, 95% CI 1.6-4.6, p < 0.0001 were also independent risk factors for mortality. CONCLUSIONS: Severe painful VOCs remain a marker for SCA disease severity and premature mortality in a modern cohort along with other known risk factors for death including high TRV, high ferritin and lower renal function. The number of patient reported pain crises requiring healthcare utilization is an easily obtained outcome that could help to identify high risk patients for disease modifying therapies. TRIAL REGISTRATION: ClinicalTrials.gov NCT00011648 http://clinicaltrials.gov/
Darbari, Deepika S.; Wang, Zhengyuan; Kwak, Minjung; Hildesheim, Mariana; Nichols, James; Allen, Darlene; Seamon, Catherine; Peters-Lawrence, Marlene; Conrey, Anna; Hall, Mary K.; Kato, Gregory J.; Taylor VI, James G.
Background Frequent painful vaso-occlusive crises (VOCs) were associated with mortality in the Cooperative Study of Sickle Cell Disease (CSSCD) over twenty years ago. Modern therapies for sickle cell anemia (SCA) like hydroxyurea are believed to have improved overall patient survival. The current study sought to determine the relevance of the association between more frequent VOCs and death and its relative impact upon overall mortality compared to other known risk factors in a contemporary adult SCA cohort. Methods Two hundred sixty four SCA adults were assigned into two groups based on patient reported outcomes for emergency department (ED) visits or hospitalizations for painful VOC treatment during the 12 months prior to evaluation. Results Higher baseline hematocrit (p = 0.0008), ferritin (p = 0.005), and HDL cholesterol (p = 0.01) were independently associated with 1 or more painful VOCs requiring an ED visit or hospitalization for acute pain. During a median follow-up of 5 years, mortality was higher in the ED visit/hospitalization group (relative risk [RR] 2.68, 95% CI 1.1-6.5, p = 0.03). Higher tricuspid regurgitatant jet velocity (TRV) (RR 2.41, 95% CI 1.5-3.9, p < 0.0001), elevated ferritin (RR 4.00, 95% CI 1.8-9.0, p = 0.001) and lower glomerular filtration rate (RR=2.73, 95% CI 1.6-4.6, p < 0.0001) were also independent risk factors for mortality. Conclusions Severe painful VOCs remain a marker for SCA disease severity and premature mortality in a modern cohort along with other known risk factors for death including high TRV, high ferritin and lower renal function. The number of patient reported pain crises requiring healthcare utilization is an easily obtained outcome that could help to identify high risk patients for disease modifying therapies. Trial Registration ClinicalTrials.gov NCT00011648 http://clinicaltrials.gov/ PMID:24224021
Apr 24, 2013 ... Results: The prevalence of AVN in sickle cell patients was ... Key words: Avascular necrosis, homozygous S, platelet count, sickle cell anemia, white cell count .... frequency of vaso‑occlusive crisis, platelet, and white cell.
Ingram, 1956). It is prevalent especially among people with ancestry in ..... thalassemia and sickle polymerization tendency on the urine concentrating defect of individual with sickle cell trait. J. Clin. Invest., 88: 1963-. 1968. Igbokwe, VU. and Obika ...
. Malaria infection is thought to influence the occurrence and severity of crisis in sickle cell patients. Objective To investigate the relationship between malaria infection and vasoocclusive crisis in sickle cell disease patients. Methods In order to ...
Wiyeh, Alison Beriliy; Abdullahi, Leila Hussein; Wonkam, Ambroise; Wiysonge, Charles Shey; Kaba, Mamadou
Sickle cell disease (SCD) is an inherited haematological disorder caused by a single point mutation (Glub6Val) that promotes polymerisation of haemoglobin S and sickling of erythrocytes. Inflammation, haemolysis, microvascular obstruction and organ damage characterise the highly variable clinical expression of SCD. People with SCD are at increased risk of severe infections, hence the need for vaccination against common disease-causing organisms in this population. We aim to review the evidence on the efficacy and safety of vaccines in people with SCD. The present systematic review will examine the current data as indexed in PubMed, CENTRAL, EMBASE and EBSCOHost. We will consult Strategic Advisory Group of Experts practice statements, conference abstracts, reference lists of relevant articles, WHO ICTRP trial registry and experts in the field. Two authors will independently screen search outputs, select studies, extract data and assess risk of bias; resolving discrepancies by discussion and consensus between the two authors or arbitration by a third author when necessary. We will perform a meta-analysis for clinically homogenous studies. Evidence from clinically diverse studies will be aggregated using narrative synthesis of the findings. In either case, we will use the GRADE approach to assess the strength of the available evidence. The study draws on data that are readily available in the public domain, hence no formal ethical review and approval is required. The findings of this review will be disseminated through conference presentations and a publication in a peer-reviewed journal. CRD42018084051. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Full Text Available Background and Aims: Blood donation from glucose-6-phosphate dehydrogenase (G6PD-deficient and sickle cell trait (SCT donors might alter the quality of the donated blood during processing, storage or in the recipient′s circulatory system. The aim of this study was to determine the prevalence of G6PD deficiency and SCT among blood donors coming to King Khalid University Hospital (KKUH in Riyadh. It was also reviewed the benefits and risks of transfusing blood from these blood donors. Materials and Methods: This cross-sectional study was conducted on 1150 blood samples obtained from blood donors that presented to KKUH blood bank during the period April 2006 to May 2006. All samples were tested for Hb-S by solubility test, alkaline gel electrophoresis; and for G6PD deficiency, by fluorescent spot test. Results: Out of the 1150 donors, 23 (2% were diagnosed for SCT, 9 (0.78% for G6PD deficiency and 4 (0.35% for both conditions. Our prevalence of SCT and G6PD deficiency is higher than that of the general population of Riyadh. Conclusion: We recommend to screen all units for G6PD deficiency and sickle cell trait and to defer donations from donors with either of these conditions, unless if needed for special blood group compatibility, platelet apheresis or if these are likely to affect the blood bank inventory. If such blood is to be used, special precautions need to be undertaken to avoid complications in high-risk recipients.
de Carvalho, H L C C; Thomaz, E B A F; Alves, C M C; Souza, S F C
Periodontal diseases are associated with bacterial challenge and the host immune response, and are also modulated by genetic factors. There is evidence that sickle cell anaemia (SCA) does not represent a risk factor for periodontal diseases. However, it is still unclear whether the heterozygous condition [sickle cell trait (SCT)] is associated with periodontal diseases. SCT is a genetic condition that can cause vaso-occlusive events, which may be associated with a propensity to bacterial infections. The aim of this study was to investigate the association of SCA and SCT with periodontal diseases by evaluating clinical and radiographic characteristics. The sample (n = 369) was selected and divided into two groups: exposed groups [HbSS (SCA genotype) and HbAS (SCT genotype) = 246] and a nonexposed group (HbAA = 123). HbAA consisted of individuals without SCA and SCT. The clinical parameters evaluated were plaque index, gingival index, calculus index, clinical probing depth, clinical attachment level, gingival recession, tooth mobility and furcation involvement. The percentage of alveolar bone loss was measured using a Schei ruler. Binomial and Poisson regressions were used to estimate correlations of interest (α = 0.05). None of the periodontal parameters was associated with SCA. SCT was associated with gingivitis (p = 0.041) and periodontitis (p = 0.002). Individuals with SCT had a lower plaque index (p = 0.044) but a higher calculus index (p = 0.003) and greater alveolar bone loss (p = 0.010) compared with subjects in the HbAA group. SCT can act as a predictor for establishment of periodontal diseases. There was no correlation between SCA and periodontal diseases. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Nnaji, G A; Ezeagwuna, D A; Nnaji, Ijf; Osakwe, J O; Nwigwe, A C; Onwurah, O W
Premarital haemoglobin screening is an important strategy for the control of Sickle Cell Disease. To determine the prevalence and pattern of sickle cell disease among premarital couples and to assess their attitude to the risk of sickle cell anaemia in their offspring. A cross sectional descriptive study using interviewer administered questionnaire and haemoglobin screening to collect data. Systematic sampling of every third premarital couples attending the General outpatient Clinic of Nnamdi Azikiwe University Teaching Hospital, Nnewi, between November 2010 and October 2011 was used to select the subjects for the study. SPSS version 16 was used for statistical analysis of data from 212 premarital couples or 424 subjects. The prevalence of HbAA and HbAS were 72.64% or 308/424 and 26.4% or 112/424, respectively, while HbSS was 0.94% or 4/424. In 95.3% of the couples there was no risk of offspring inheriting sickle cell anaemia. An equal percentage of males (χ2 = 24.704; df = 6; P = 0.000) and females (χ2 = 12. 684; df 6; P = 0.048) (67.9% or 144/212) would call-off their marriage if there was risk of their offspring being HbSS. Three quarters of the premarital couples had HbAA, while one quarter had Sickle cell trait. A very low percentage of the couples (2.8%) had 1:4 risk of their offspring inheriting SCA (HbSS). About 2/3 of the subjects would call-off the marriage if there was risk of their offspring inheriting SCA.
A linkage between presence of Sickle Haemoglobin (HbS) and protection from malaria infection and clinical manifestations in certain areas was suspected from early observations and progressively elucidated by more recent studies. Research has confirmed the abovementioned connection, but also clarified how such protection may be abolished by coexistence of sickle cell trait (HbS trait) and alpha thalassemia, which may explain the relatively low incidence of HbS trait in the Mediterranean. The mechanisms of such protective effect are now being investigated: factors of genetic, molecular and immunological nature are prominent. As for genetic factors attention is given to the role of the red blood cell (RBC) membrane complement regulatory proteins as polymorphisms of these components seem to be associated with resistance to severe malaria; genetic ligands like the Duffy group blood antigen, necessary for erythrocytic invasion, and human protein CD36, a major receptor for P. falciparum-infected RBC's, are also under scrutiny: attention is focused also on plasmodium erythrocyte-binding antigens, which bind to RBC surface components. Genome-wide linkage and association studies are now carried out too, in order to identify genes associated with malaria resistance. Only a minor role is attributed to intravascular sickling, phagocytosis and haemolysis, while specific molecular mechanisms are the object of intensive research: among these a decisive role is played by a biochemical sequence, involving activation of haeme oxygenase (HMO-1), whose effect appears mediated by carbon monoxide (CO). A central role in protection from malaria is also played by immunological factors, which may stimulate antibody production to plasmodium antigens in the early years of life; the role of agents like pathogenic CD8 T-cells has been suggested while the effects of molecular actions on the immunity mechanism are presently investigated. It thus appears that protection from malaria can be
Mañú Pereira, María Del Mar; Cabot, Anna; Martínez González, Ana; Sitjà Navarro, Eulalia; Cararach, Vicent; Sabrià, Josep; Boixaderas, Jordi; Teixidor, Roser; Bosch, Albert; López Vílchez, M Angeles; Martín Ibáñez, Itziar; Carrión, Teresa; Plaja, Pere; Sánchez, Mario; Vives Corrons, José Luis
The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.
Chantrathammachart, Pichika; Pawlinski, Rafal
Sickle cell anemia is an inherited hematologic disorder associated with hemolytic and vaso-occlusive complications. An activation of coagulation is also a prominent feature of sickle cell anemia. Growing evidence indicates that coagulation may contribute to the inflammation and vascular injury in sickle cell anemia. This review focuses on tissue factor expression and its contribution to the activation of coagulation, thrombosis and vascular inflammation in sickle cell anemia.
The effects of acidic metabolites of A. vera and C. cajan extracts on the sickling and gelation times of human HbSS erythrocytes were investigated to obtain a better understanding of the anti-sickling compounds contained in them for use in the management of sickle cell disease. The results obtained showed that the acidic ...
Jun 1, 2015 ... SUMMARY. Background: Foetal haemoglobin has been implicated in the modulation of sickle cell crisis. Its level is gener- ally inversely proportional to the severity of sickle cell disease (SCD) for a given sickle cell phenotypes. The main aim of therapy for vaso-occlusive crisis (VOC), which is the hallmark of ...
Metske, Hennie A.; Postema, Pieter G.; Biemond, Bart J.; Bouman, Catherine S. C.
Objective: The management of patients with sickle-cell disease and cardiac arrest presents special challenges. Mild therapeutic hypothermia may improve survival and neurologic outcome after cardiac arrest, however, it may also precipitate sickling in patients with sickle-cell disease. Rigorous
Background: Patients with sickle cell anemia (SCA) are prone to recurrent pain crises related to red blood cell sickling and vaso.occlusion with subsequent tissue hypoxia. Alveolar hypoxia has been shown to be associated with entrapment of sickle cells in the pulmonary microcirculation which may propagate a cycle of ...
Phillips, Kate; Healy, Laura; Smith, Louise; Keenan, Russell
Despite the demonstrated efficacy of hydroxyurea therapy, children with sickle cell anaemia in the UK are preferentially managed with supportive care or transfusion. Hydroxyurea is reserved for children with severe disease phenotype. This is in contrast to North America and other countries where hydroxyurea is widely used for children of all clinical phenotypes. The conservative UK practice may in part be due to concerns about toxicity, in particular marrow suppression with high doses, and growth in children. We monitored 37 paediatric patients with sickle cell anaemia who were treated with hydroxyurea at a single UK treatment centre. Therapy was well tolerated and mild transient cytopenias were the only toxicity observed. Comparative analysis of patients receiving ≥26 mg/kg/day versus hydroxyurea as a disease-modifying therapy, which we advocate for all children with sickle cell anaemia. © 2017 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.
Sickle Cell Disease; Transfusion Dependent Alpha- or Beta- Thalassemia; Diamond Blackfan Anemia; Paroxysmal Nocturnal Hemoglobinuria; Glanzmann Thrombasthenia; Severe Congenital Neutropenia; Shwachman-Diamond Syndrome; Non-Malignant Hematologic Disorders
Bittar, Julio; Arenas, Paula; Chiurchiu, Carlos; de la Fuente, Jorge; de Arteaga, Javier; Douthat, Walter; Massari, Pablo U
Current transplant success allows recipients with previous contraindications to transplant to have access to this procedure with more frequency and safety. The concept of high-risk patient has changed since the first stages of transplantation. In the first studies, the high-risk concept was based on probability of early graft failure or on a patient's clinical condition to cope with high perioperatory morbimortality. Later on, this concept implied immunological factors that were crucial to ensure transplant success because hypersensitized or polytransfused patients experienced a higher risk of acute rejection and subsequent graft loss. Afterward, the presence of various comorbidities would redefine the high-risk concept for renal transplant mainly considering recipient's clinical aspects. Currently, the change in epidemiological characteristics of patients starting dialysis causes that we now deal with a greater increase of elderly patients, diabetic patients, and patients with history of cardiovascular disease. Today, high-risk patients are those with clinical features that predict an increase in the risk of perioperative morbimortality or death with functioning graft. In this review, we will attempted to analyze currents results of renal transplant outcomes in terms of patients and graft survival in elderly patients, diabetic patients, and patients with previous cardiovascular disease from the most recent experiences in the literature and from experiences in our center. In any of the groups previously analyzed, survival offered by renal transplant is significantly higher compared to dialysis. Besides, these patients are the recipient group that benefit the most with the transplant because their mortality while remaining on dialysis is extremely high. Hence, renal transplantation should be offered more frequently to older patients, diabetic patients, and patients with pretransplant cardiac and peripheral vascular disease. A positive attitude toward renal
Malik, Aamir; Merchant, Chandni; Rao, Mana; Fiore, Rosemary P
Sickle cell disease can affect the liver by way of the disease process, including sickling in hepatic sinusoids, as well as its treatment, including repeated blood transfusions leading to hemosiderosis and hepatitis. Sickle cell intrahepatic cholestasis (SCIC) is an extreme variant of sickle cell hepatopathy, and is associated with high fatality. We present the case of a 31-year-old man with past medical history of sickle cell disease and cholecystectomy who was admitted with uncomplicated vaso occlusive crisis and during the hospital stay developed fever, upper abdominal pain, and jaundice. There was an accelerated rise in total bilirubin to 50 mg/dL, direct bilirubin 38 mg/dL, and Cr 3.0 mg/dL. Hb was 6.4 g/dL, reticulocyte count 16%, ALT 40 IU/L, AST 155 IU/L, ALP 320 IU/L, and LDH 475 IU/L. Hepatitis panel was negative and MRCP showed normal caliber of the common bile duct, with no obstruction. Exchange transfusion of 9 units of packed red blood cells led to great improvement in his condition. SCIC, unlike the other sickle cell hepatopathies, requires urgent and vigorous exchange transfusion. Renal impairment in SCIC has not been well studied but usually is reversible with the hepatic impairment, as in this case. Unresolved renal impairment requires dialysis and is associated with poor outcome. There is limited data on use of hydroxyurea to prevent SCIC, and liver transplant is associated with high mortality. A timely diagnosis of SCIC and appropriate management is life-saving.
Reeves, Sarah L; Madden, Brian; Freed, Gary L; Dombkowski, Kevin J
With transcranial Doppler (TCD) screening, we can identify children and adolescents with sickle cell anemia who are at the highest risk of stroke. An accurate claims-based method for identifying children and adolescents with sickle cell anemia was recently developed and validated that establishes the necessary groundwork to enable large population-based assessments of health services utilization among children and adolescents with sickle cell anemia using administrative claims data. To assess the feasibility of using administrative claims data to identify and describe the receipt of TCD screening among children and adolescents with sickle cell anemia and to characterize opportunities for intervention. Retrospective cross-sectional study using Medicaid claims data from 2005 to 2010. Medicaid claims data were obtained from the following states: Florida, Illinois, Louisiana, Michigan, South Carolina, and Texas. Children and adolescents 2 to 16 years of age with sickle cell anemia were identified by the presence of 3 or more Medicaid claims with a diagnosis of sickle cell anemia within a calendar year (2005-2010). A total of 4775 children and adolescents contributed 10 787 person-years throughout the study period. Data were analyzed in 2015. A subset of children and adolescents enrolled for 2 or more consecutive years was identified to examine potential predictors of TCD screening, which included age, sex, previous receipt of TCD screening, state of residence, and health services utilization (well-child visits, outpatient visits, emergency department visits, and inpatient visits). Receipt of TCD screening was assessed by year and state. Using logistic regression with generalized estimating equations, we included associated predictors in a multivariable model to estimate odds of TCD screening. For a total of 4775 children and adolescents 2 to 16 years of age, TCD screening rates increased over the 6-year study period from 22% to 44% (P sickle cell anemia (50%) was
Martí-Carvajal, Arturo J; Solà, Ivan; Agreda-Pérez, Luis H
Avascular necrosis of bone is a frequent and severe complication of sickle cell disease and its treatment is not standardised. This is an update of a previously published Cochrane Review. To determine the impact of any surgical procedure compared with other surgical interventions or non-surgical procedures, on avascular necrosis of bone in people with sickle cell disease in terms of efficacy and safety. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Additional trials were sought from the reference lists of papers identified by the search strategy.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 27 May 2016. Randomized clinical trials comparing specific therapies for avascular necrosis of bone in people with sickle cell disease. Each author independently extracted data and assessed trial quality. Since only one trial was identified, meta-analysis was not possible. One trial (46 participants) was eligible for inclusion. After randomization eight participants were withdrawn, mainly because they declined to participate in the trial. Data were analysed for 38 participants at the end of the trial. After a mean follow up of three years, hip core decompression and physical therapy did not show clinical improvement when compared with physical therapy alone using the score from the original trial (an improvement of 18.1 points for those treated with intervention therapy versus an improvement of 15.7 points with control therapy). There was no significant statistical difference between groups regarding major complications (hip pain, risk ratio 0.95 (95% confidence interval 0.56 to 1.60; vaso-occlusive crises, risk ratio 1.14 (95% confidence interval 0.72 to 1.80; very low quality of evidence); and acute chest syndrome, risk
Marks, Lianna J; Munube, Deogratias; Kasirye, Philip; Mupere, Ezekiel; Jin, Zhezhen; LaRussa, Philip; Idro, Richard; Green, Nancy S
Objectives . The prevalence of stroke among children with sickle cell disease (SCD) in sub-Saharan Africa was systematically reviewed. Methods . Comprehensive searches of PubMed, Embase, and Web of Science were performed for articles published between 1980 and 2016 (English or French) reporting stroke prevalence. Using preselected inclusion criteria, titles and abstracts were screened and full-text articles were reviewed. Results . Ten full-text articles met selection criteria. Cross-sectional clinic-based data reported 2.9% to 16.9% stroke prevalence among children with SCD. Using available sickle gene frequencies by country, estimated pediatric mortality, and fixed- and random-effects model, the number of affected individuals is projected as 29 800 (95% confidence interval = 25 571-34 027) and 59 732 (37 004-82 460), respectively. Conclusion . Systematic review enabled the estimation of the number of children with SCD stroke in sub-Saharan Africa. High disease mortality, inaccurate diagnosis, and regional variability of risk hamper more precise estimates. Adopting standardized stroke assessments may provide more accurate determination of numbers affected to inform preventive interventions.
Santos, Venetia [Pontificia Universidade Catolica do Rio de Janeiro (PUC-Rio), RJ (Brazil); Zamberlan, Maria Cristina [National Institute of Tehnology (INT), Rio de Janeiro, RJ (Brazil). Human Reliability and Ergonomics Research Group for the Oil, Gas and Energy Sector
The evolution of ergonomics methodology has become necessary due to the dynamics imposed by the work environment, by the increase of the need of human cooperation and by the high interaction between various sections within a company. In the last 25 years, as of studies made in the high risk process control, we have developed a methodology to evaluate these situations that focus on the assessment of activities and human cooperation, the assessment of context, the assessment of the impact of work of other sectors in the final activity of the operator, as well as the modeling of existing risks. (author)
Simon, Katherine; Barakat, Lamia P.; Patterson, Chavis A.; Dampier, Carlton
Sickle cell disease (SCD) complications place patients at risk for poor psychosocial adaptation, including depression and anxiety symptoms. This study aimed to test a mediator model based on the Risk and Resistance model to explore the role of intrapersonal characteristics and stress processing variables in psychosocial functioning. Participants…
Riedl, C.C.; Ponhold, L.; Gruber, R.; Pinker, K.; Helbich, T.H.
Women with an elevated risk for breast cancer require intensified screening beginning at an early age. Such high risk screening differs considerably from screening in the general population. After an expert has evaluated the exact risk a breast MRI examination should be offered at least once a year and beginning latest at the age of 30 depending on the patients risk category. Complementary mammograms should not be performed before the age of 35. An additional ultrasound examination is no longer recommended. To ensure a high sensitivity and specificity high risk screening should be performed only at a nationally or regionally approved and audited service. Adequate knowledge about the phenotypical characteristics of familial breast cancer is essential. Besides the common malignant phenotypes, benign morphologies (round or oval shape and smooth margins) as well as a low prevalence of calcifications have been described. Using MRI benign contrast media kinetics as well as non-solid lesions with focal, regional and segmental enhancement can often be visualized. (orig.) [de
Woodman, Tim; Barlow, Matt; Bandura, Comille; Hill, Miles; Kupciw, Dominika; Macgregor, Alexandra
Although high-risk sport participants are typically considered a homogenous risk-taking population, attitudes to risk within the high-risk domain can vary considerably. As no validated measure allows researchers to assess risk taking within this domain, we validated the Risk Taking Inventory (RTI) for high-risk sport across four studies. The RTI comprises seven items across two factors: deliberate risk taking and precautionary behaviors. In Study 1 (n = 341), the inventory was refined and tested via a confirmatory factor analysis used in an exploratory fashion. The subsequent three studies confirmed the RTI's good model-data fit via three further separate confirmatory factor analyses. In Study 2 (n = 518) and in Study 3 (n = 290), concurrent validity was also confirmed via associations with other related traits (sensation seeking, behavioral activation, behavioral inhibition, impulsivity, self-esteem, extraversion, and conscientiousness). In Study 4 (n = 365), predictive validity was confirmed via associations with mean accidents and mean close calls in the high-risk domain. Finally, in Study 4, the self-report version of the inventory was significantly associated with an informant version of the inventory. The measure will allow researchers and practitioners to investigate risk taking as a variable that is conceptually distinct from participation in a high-risk sport.
Strong, Heather; Mitchell, Monica J; Goldstein-Leever, Alana; Shook, Lisa; Malik, Punam; Crosby, Lori E
Sickle cell disease (SCD) is a chronic genetic disease with high morbidity and early mortality; it affects nearly 100,000 individuals in the USA. Bone marrow transplantation, the only curative treatment, is available to less than 20% of patients because of a number of access barriers. Gene transfer therapy (GTT) has been shown to be curative in animal models and is approved for use in humans for early-phase studies at a few centers. GTT would offer a more accessible treatment option available to all patients. It is important to understand patient perspectives on GTT to help ensure human clinical trial success. Two focus groups were conducted with younger (18-30 years) and older (31 years and older) adults with SCD to obtain data on patient knowledge and beliefs about GTT. Data from these two focus groups was used to develop a GTT educational brochure. A third focus group was conducted to obtain participant feedback on acceptability and feasibility of education and the brochure. Most adults, especially young adults, had little knowledge about GTT and expressed fear and uncertainty about the side effects of chemotherapy (e.g., hair loss, infertility), use of a human immunodeficiency virus (HIV)-derived viral vector, and potential for cancer risk. Participants wanted full transparency in educational materials, but advised researchers not to share the vector's relation to HIV because of cultural stigma and no HIV virus is used for the GTT vector. Older adults had more desire to participate in human clinical GTT trials than younger participants. When recruiting for trials, researchers should develop GTT educational materials that address participant lack of trust in the healthcare system, cultural beliefs, fears related to side effects, and include visual illustrations. Use of such materials will provide adults with SCD the information they need to fully evaluate GTT.
Ghafuri, Djamila L; Stimpson, Sarah-Jo; Day, Melissa E; James, Andra; DeBaun, Michael R; Sharma, Deva
Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity, and premature menopause related to SCD. Expert commentary: Women with SCD have unique risk factors that may impact their ability to conceive, including chronic inflammation, oxidative stress, transfusion-related hemochromatosis, and ovarian sickling, causing ischemia and reperfusion injury to the ovary. Contraception is strongly recommended while on hydroxyurea therapy during reproductive years and discontinuing hydroxyurea for family planning and during pregnancy based on teratogenicity in animal studies. Hematopoietic stem cell transplantation (HSCT), the only curative therapy, sometimes involves conditioning regimens containing alkylating agents and total body irradiation that contribute to infertility and premature ovarian failure. Prior to HSCT or gene therapy, we strongly recommend referral to a reproductive endocrinologist to discuss fertility preservation and surrogacy options for all women with SCD.
Andreza Aparecida Felix Signorelli
Full Text Available OBJECTIVE: The aim of this exploratory, cross-sectional study was to evaluate pain in sickle cell disease patients and aspects related to primary healthcare. METHODS: Data were obtained through home interviews. The assessment instruments (body diagram, Numerical Pain Scale, McGill Pain Questionnaire collected information on the underlying disease and on pain. Data were analyzed using the Statistical Package for Social Sciences program for Windows. Associations between the subgroups of sickle cell disease patients (hemoglobin SS, hemoglobin SC, sickle β-thalassemia and others and pain were analyzed using contingency tables and non-parametric tests of association (classic chi-square, Fisher's and Kruskal-Wallis with a level of 5% (p-value < 0.05 being set for the rejection of the null hypothesis. RESULTS: Forty-seven over 18-year-old patients with sickle cell disease were evaluated. Most were black (78.7% and female (59.6% and the mean age was 30.1 years. The average number of bouts of pain annually was 7.02; pain was predominantly reported by individuals with sickle cell anemia (hemoglobin SS. The intensity of pain (Numeric Pain Scale was 5.5 and the quantitative index (McGill was 35.9. This study also shows that patients presented a high frequency of moderately painful crises in their own homes. CONCLUSION: According to these facts, it is essential that pain related to sickle cell disease is properly identified, quantified, characterized and treated at the three levels of healthcare. In primary healthcare, accurate measurement of pain combined with better care may decrease acute painful episodes and consequently minimize tissue damage, thus improving the patient's overall health.
Benute, Gláucia Rosana Guerra; Nomura, Roseli Mieko Yamamoto; Jorge, Vanessa Marques Ferreira; Nonnenmacher, Daniele; Fráguas Junior, Renério; Lucia, Mara Cristina Souza de; Zugaib, Marcelo
To identify the risk of suicidal behavior in high-risk pregnant women at a public hospital in São Paulo. We conducted a semi-structured interview with each of the participants (n = 268) through a previously prepared questionnaire. Risk of suicidal behavior was assessed by the Portuguese version of PRIME-MD. The mean age of patients was 29 years (SD = 0.507) and gestation period was 30 weeks (SD = 0.556). Of the total sample, specific risk of suicide was found in 5% (n = 14). Of these, 85% have a stable relationship (married or cohabitating), the pregnancy was planned in 50% of cases, and 71% have no religion or professional activities. The correlation of risk of suicide with data from marital status, planned birth, age, education, professional practice, risk of prematurity, and religion showed that having a religion is statistically significant (p = 0.012). There were no positive associations for any of the other selected variables when compared with the risk of suicide. By correlating the risk of suicide with other characteristic symptoms of major depression, there was statistical significance in the sample with regard to insomnia or hypersomnia (p = 0.003), fatigue or loss of energy (p = 0.001), decreased or increased appetite (p = 0.005), less interest in daily activities (p = 0.000), depressed mood (p = 0.000), feelings of worthlessness or guilt (p = 0.000), decreased concentration (p = 0.002), and agitation or psychomotor retardation (p = 0.002). We found that religion can be a protective factor against suicidal behavior. Besides providing a social support network needed by women during pregnancy, religion supports belief in life after death and in a loving God, giving purpose to life and self esteem and providing models for coping with crises. The results show the importance of prevention and early diagnosis of suicidal behavior, since suicide is an attempt to move from one sphere to another by force, seeking to solve what seems impossible.
Diarra, A B; Guindo, A; Kouriba, B; Dorie, A; Diabaté, D T; Diawara, S I; Fané, B; Touré, B A; Traoré, A; Gulbis, B; Diallo, D A
Red cell transfusion is one of the main treatments in sickle cell disease. However there are potential risks of blood transfusions. In order to propose strategies to improve blood safety in sickle cell disease in Mali, we conducted a prospective study of 133 patients with sickle cell anemia recruited at the sickle cell disease research and control center of Bamako, November 2010 to October 2011. The study aimed to determine the prevalence of human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) infections by serum screening and the frequency of red cell alloimmunization before and after blood transfusion. The diagnosis of sickle cell syndrome was made by HPLC, the detection of markers of viral infection was performed by ELISA, and the diagnosis of alloimmunization was conducted by the Indirect Coombs test. Prevalence of viral infections observed at the time of enrolment of patients in the study was 1%, 3% and 1% respectively for HIV, HBV and HCV. Three cases of seroconversion after blood transfusion were detected, including one for HIV, one for HBV and one another for HCV in sickle cell anemia patients. All these patients had received blood from occasional donors. The red cell alloimmunization was observed in 4.4% of patients. All antibodies belonged to Rh system only. Blood transfusion safety in sickle cell anemia patients in Mali should be improved by the introduction of at least the technique for detecting the viral genome in the panel of screening tests and a policy of transfusions of blood units only from regular blood donors. Copyright © 2013 Elsevier Masson SAS. All rights reserved.
Tayib, Abdulmalik M.
Objective was to evaluate the short-term tolerability and outcome of high power green light potassium titanyl phosphate laser prostatectomy in high-risk patients with symptomatic benign prostatic hyperplasia. Eleven high risk operative patients were included in this study at the International Medical Center, Jeddah, Kingdom of Saudi Arabia, between January and September 2007. Patients enrolled in this study underwent preoperative and postoperative, cardiac and anesthesia evaluation. Clinical presentations, ultrasound of urinary tract and preoperative laboratory investigation were recorded. All patients underwent high power green light laser prostatectomy using the green light photo vaporization system with setting of 120 watts. The intraoperative and postoperative complications and follow-up were recorded. The patient's age varied between 65-82 years with a mean age of 75.3+-8.6 years old. Seven patients presented with refractory acute urinary retention and 4 patients presented with severe lower urinary tract symptoms. The average prostate volume was 61.22 cc. All patients had uneventful intra- and postoperative course, without the intensive care. The average blood loss was insignificant and only one of the patients required blood transfusion. Foley catheters were removed one day after the procedure. All patients voided satisfactorily after removal of catheter and 8 patients complained of urgency. High power green light laser prostatectomy is a safe and effective method of treating symptomatic benign prostatic hyperplasia in patients with high operative risk. (author)
Nevitt, Sarah J; Jones, Ashley P; Howard, Jo
Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Register, comprising of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We also searched online trial registries.Date of the most recent search: 16 January 2017. Randomised and quasi-randomised controlled trials, of one month or longer, comparing hydroxyurea with placebo, standard therapy or other interventions for people with SCD. Authors independently assessed studies for inclusion, carried out data extraction and assessed the risk of bias. Seventeen studies were identified in the searches; eight randomised controlled trials were included, recruiting 899 adults and children with SCD (haemoglobin SS (HbSS), haemoglobin SC (HbSC) or haemoglobin Sβºthalassaemia (HbSβºthal) genotypes). Studies lasted from six to 30 months.Four studies (577 adults and children with HbSS or HbSβºthal) compared hydroxyurea to placebo; three recruited individuals with only severe disease and one recruited individuals with all disease severities. There were statistically significant improvements in terms of pain alteration (using measures such as pain crisis frequency, duration, intensity, hospital admissions and opoid use), measures of fetal haemoglobin and neutrophil counts and fewer occurrences of acute chest syndrome and blood transfusions in the hydroxyurea groups. There were no consistent
Schoenborn, B.P.; North, B.E.
Observations are reported that show that dichloromethane (DCM) does have a significant effect on the oxygen binding properties of hemoglobin. At DCM pressures high enough to prevent or reverse sickling, DCM would lower the oxygen affinity of hemoglobin, therefore reducing oxygen transport at low oxygen pressure. This decrease in oxygen affinity might, however, increase the oxygen availability to tissue as long as a sufficiently large lung P/sub O/sub 2// is maintained. Crystallographic studies show that site D4 has a much lower affinity for DCM than site D3 while sites D1 and D2 show a higher affinity.
Salvo Souza, L.H. de.
Room temperature magnetic measurements in deoxigenated sickle cells showed the existence of magnetic anisotropy, Δchi=1,29 x 10 -3 . This effect was supposed paramagnetic and considered to be due to the iron atoms of the hemoglobin molecules which are one over the other, forming ordered chains inside the erythrocytes. Low temperature (liquid He - 4,2K) measurements of the magnetic anisotropy of sickle cells and normal red blood cells diluted in a cryoprotector was made to confirm the paramagnetic origin of the fenomena. For that purpose it was used a superconductor magnetometer coupled to a SQUID, developed in the 'Laboratorio do Estado Solido do Departamento de Fisica da PUC-RJ'. The results obtained seem to confirm the expected paramagnetic anisotropy and, furthermore, suggest the presence of magnetic interactions among the iron atoms in the sickle cells samples. (Author) [pt
Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique
Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.
Luiz Evaristo Ricci Volpato
Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.
Nur, Erfan; Kim, Yu-Sok; Truijen, Jasper; van Beers, Eduard J.; Davis, Shyrin C. A. T.; Brandjes, Dees P.; Biemond, Bart J.; van Lieshout, Johannes J.
Sickle cell disease (SCD) is associated with a high incidence of ischemic stroke. SCD is characterized by hemolytic anemia, resulting in reduced nitric oxide-bioavailability, and by impaired cerebrovascular hemodynamics. Cerebrovascular CO2 responsiveness is nitric oxide dependent and has been
Lebensburger, Jeffrey D.; Grosse, Scott D.; Altice, Jessica L.; Thierry, JoAnn M.; Ivankova, Nataliya V.
Summary With the increase in access to medical information, parents can acquire health information from multiple sources. An understanding of parents' reactions to a newborn infant's diagnosis of sickle cell anemia and how they acquire knowledge can identify parent beliefs and preferences about the process of sickle cell education. This study utilized a sequential exploratory mixed methods design. First, qualitative interviews were conducted with 8 parents of infants with sickle cell anemia to understand the process of health education. Second, quantitative surveys were conducted with 22 other parents to test qualitative findings. Parents of infants with sickle cell anemia expressed a high level of fear at the time of notification of a positive screen. Parents desired an understanding of how to identify acute complications of disease and how sickle cell will alter their child's life. Parents actively sought information at the time they were told their child had sickle cell disease. Sickle cell education should begin at time of notification of positive newborn screening results and address identified parent concerns. Health care providers should build trust with parents and provide them with immediate access to educational materials. Hematologists should work with primary care providers to develop complementary educational programs and resources. PMID:25072367
Morrison, J C; Wiser, W L
Sickle cell anemia is associated with an alarming attrition rate during pregnancy. The maternal morbidity rate, perinatal wastage rate, and the incidence of severe morbidity in both mother and child are elevated above acceptable limits. In most cases, these statistics have been compiled using conservative therapeutic modalities. In contrast, this report utilizes prophylactic partial exchange transfusion therapy in patients with severe sickle cell hemoglobinopathies. The protocol involves the introduction of 750-1000 cc of buffy coat, poor washed red cells exchanged with 1000-1500 cc whole blood during phlebotomy at 28 weeks' gestation and again prior to term. Thirty-six consecutive pregnant patients with sickle cell anemia have been managed in this fashion. The one maternal mortality occurred in a patient who did not complete the protocol. Major maternal morbidity and perinatal wastage rates were significantly decreased. Two cases of serum hepatitis occurred. It appears from these data that the use of prophylactic partial exchange transfusion in pregnant patients with severe sickle cell hemoglobinopathies can be of benefit. Further trials of this method seem justified by these results to assess completely the benefit-risk ratio of this procedure.
Benn, Marianne; Tybjærg-Hansen, Anne; Smith, George Davey
of follow-up (range 0-37), 8002 developed non-skin cancer, 3347 non-melanoma skin cancer, 1396 lung cancer, 637 other smoking related cancers, 1203 colon cancer, 159 kidney cancer, 1402 breast cancer, 1062 prostate cancer, and 2804 other cancers. Participants were genotyped for five genetic variants...... with a BMI ≥ 30 versus 18.5-24.9 kg/m(2). Corresponding risk of breast cancer was 20 % (0-44 %) higher in postmenopausal women. BMI was not associated with risk of colon, kidney, other smoking related cancers, prostate cancer, or other cancers. In genetic analyses, carrying 7-10 versus 0-4 BMI increasing......High body mass index (BMI) has been associated with increased risk of some cancer. Whether these reflect causal associations is unknown. We examined this issue. Using a Mendelian randomisation approach, we studied 108,812 individuals from the general population. During a median of 4.7 years...
Nelson, M S; Chisolm, J J
We recently saw a 12-year-old black boy with known sickle cell disease who had been seen many times for abdominal pain thought to be secondary to a vasoocclusive crisis. The patient eventually was admitted, after a seizure and the onset of obtundation. The etiology of his acute encephalopathy remained unclear until bone films of his knees fortuitously revealed "lead lines." The patient was treated and did well subsequently. This case emphasizes the importance of considering other diagnoses when a sickle cell patient presents with a crisis.
the Medicare Trustees, the Office of the Actuary , and the Congressional Budget Office have raised concerns about whether some of the Medicare... actuarially sound. For more information, see the National Flood Insurance Program section of this High-Risk report. Among other things, the report...and mathematics (STEM) functional community. In addition to the efforts of the Working Group, the President’s Fiscal Year 2013 budget—released in
Asnani, Monika R; Quimby, Kim R; Bennett, Nadia R; Francis, Damian K
. Eligible interventions will aim to change knowledge, attitudes or skills, improve psychosocial aspects of the disease as well as treatment adherence and healthcare utilization. Trials evaluating the intervention versus no program, comparing two interventions and those which are part of a multi-faceted intervention to improve a range of sickle cell-related health outcomes are all eligible for inclusion. Two review authors independently selected trials based on stated inclusion criteria and thereafter examined each selected report to extract data using a prepared, piloted, data collection form. A third author assisted in reaching consensus if there were any discrepancies. Similarly, risk of bias was assessed by two authors and verified by a third author. A total of 12 trials (11 randomized controlled trials and one quasi-randomized trial) of 563 people with HbSS, HbSC or HbSβthal, aged six to 35 years old, were included in the review; the majority of participants were African-American. Interventions ranged from a total of one hour to weekly sessions for eight weeks and the post-intervention assessments ranged from the end of the intervention period to 12 months after completion. The heterogeneity of the included trials, which encompasses setting, inclusion and exclusion criteria, interventional method and time of assessment, ranged from 'not important' to 'moderate to substantial' for different review outcomes. The overall risk of bias was low for selective reporting, unclear for random sequence generation, allocation concealment, blinding of participants and blinding of outcome assessment. Incomplete outcome reporting and blinding of personnel showed mixed bias representations.Patient knowledge was assessed by four trials (160 participants) with moderate to substantial heterogeneity. There was evidence that educational programs improved patient knowledge, standardised mean difference 0.87 points (95% confidence interval 0.28 to 1.45, moderate quality evidence), which
Lopes, Flavia C. M.; Traina, Fabiola; Almeida, Camila B.; Leonardo, Flavia C.; Franco-Penteado, Carla F.; Garrido, Vanessa T.; Colella, Marina P.; Soares, Raquel; Olalla-Saad, Sara T.; Costa, Fernando F.; Conran, Nicola
As hypoxia-induced inflammatory angiogenesis may contribute to the manifestations of sickle cell disease, we compared the angiogenic molecular profiles of plasma from sickle cell disease individuals and correlated these with in vitro endothelial cell-mediated angiogenesis-stimulating activity and in vivo neovascularization. Bioplex demonstrated that plasma from patients with steady-state sickle cell anemia contained elevated concentrations of pro-angiogenic factors (angiopoietin-1, basic fibroblast growth factor, vascular endothelial growth factor, vascular endothelial growth factor-D and placental growth factor) and displayed potent pro-angiogenic activity, significantly increasing endothelial cell proliferation, migration and capillary-like structure formation. In vivo neovascularization of Matrigel plugs was significantly greater in sickle cell disease mice than in non-sickle cell disease mice, consistent with an up-regulation of angiogenesis in the disease. In plasma from patients with hemoglobin SC disease without proliferative retinopathy, anti-angiogenic endostatin and thrombospondin-2 were significantly elevated. In contrast, plasma from hemoglobin SC individuals with proliferative retinopathy had a pro-angiogenic profile and more significant effects on endothelial cell proliferation and capillary formation than plasma from patients without retinopathy. Hydroxyurea therapy was associated with significant reductions in plasma angiogenic factors and inhibition of endothelial cell-mediated angiogenic mechanisms and neovascularization. Thus, individuals with sickle cell anemia or hemoglobin SC disease with retinopathy present a highly angiogenic circulating milieu, capable of stimulating key endothelial cell-mediated angiogenic mechanisms. Combination anti-angiogenic therapy to prevent the progression of unregulated neovascularization and associated manifestations in sickle cell disease, such as pulmonary hypertension, may be indicated; furthermore, the
Barakat, Lamia P; Schwartz, Lisa A; Simon, Katherine; Radcliffe, Jerilynn
The objective of this study was to examine the role of coping strategies, specifically negative thinking, in mediating the association of pain with symptoms of anxiety and depression in adolescents with sickle cell disease. Fifty-two 12-18-year-old adolescents with sickle cell disease completed a daily pain diary and paper-and-pencil measures of pain, pain coping, depression and anxiety. Symptoms of depression and anxiety were within the non-clinical range. Preliminary analyses indicated that lower family income was associated with higher reports of pain and negative thinking. Mediation regression analyses supported negative thinking as mediating the association of: (1) pain intensity with depression, and (2) pain interference with daily activities with anxiety. Findings highlight negative thinking as a factor compromising adolescents' adaptation to sickle cell pain; however, further investigation is required to determine the mediating influence of pain coping. Associations for lower income emphasize the multiple risk factors experienced by many of these adolescents.
Brown, Ronald T.; And Others
This literature review on neurocognitive functioning and learning of children with sickle cell disease found diffuse neurocognitive deficits, with much variability across subjects. Studies of psychosocial development of these children indicate that behavioral problems, low self-esteem, and body image disturbances are frequently characteristic.…
National Center for Education in Maternal and Child Health, Washington, DC.
This annotated, selective bibliography lists the following types of educational and informational material on both sickle cell disease and trait: (1) professional education materials; (2) fact sheets, pamphlets, and brochures; and (3) audiovisual material. A selected list of references is provided for the following topic areas: (1) genetic…
This podcast is for a general audience and gives information about sickle cell disease. Created: 9/10/2008 by National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders. Date Released: 9/15/2008.
Zimmerman, R.A.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.; Johnson, M.; Grossman, R.I.; Hecht-Leavitt, C.; Gill, F.; Pennsylvania Univ., Philadelphia
Eleven patients with sickle cell disease and neurological symptoms underwent MRI examination. Cerebral infarcts of two types were found, those in the vascular distribution of the middle cerebral artery and those in the deep white matter. In the patient whose hydration and whose oxygenation of erythrocytes has been treated, MRI offers diagnostic advantages over arteriography and CT. (orig.)
... Healthy Habits People with sickle cell disease should drink 8 to 10 glasses of water every day and eat healthy food. Try not to get too hot, too cold, or too tired. Children can, and should, participate in ... tired, and drink plenty of water. Look for clinical studies New ...
Nelson, D. Alan; Deuster, Patricia A.; Carter, Robert; Hill, Owen T.; Wolcott, Vickee L.; Kurina, Lianne M.
Background Studies have suggested that sickle cell trait elevates the risks of exertional rhabdomyolysis and death. We conducted a study of sickle cell trait in relation to these outcomes, controlling for known risk factors for exertional rhabdomyolysis, in a large population of active persons who had undergone laboratory tests for hemoglobin AS (HbAS) and who were subject to exertional-injury precautions. Methods We used Cox proportional-hazards models to test whether the risks of exertional rhabdomyolysis and death varied according to sickle cell trait status among 47,944 black soldiers who had undergone testing for HbAS and who were on active duty in the U.S. Army between January 2011 and December 2014. We used the Stanford Military Data Repository, which contains comprehensive medical and administrative data on all active-duty soldiers. Results There was no significant difference in the risk of death among soldiers with sickle cell trait, as compared with those without the trait (hazard ratio, 0.99; 95% confidence interval [CI], 0.46 to 2.13; P = 0.97), but the trait was associated with a significantly higher adjusted risk of exertional rhabdomyolysis (hazard ratio, 1.54; 95% CI, 1.12 to 2.12; P = 0.008). This effect was similar in magnitude to that associated with tobacco use, as compared with no use (hazard ratio, 1.54; 95% CI, 1.23 to 1.94; Prhabdomyolysis. (Funded by the National Heart, Lung, and Blood Institute and the Uniformed Services University of the Health Sciences.) PMID:27518662
Rosana Quintella Brandão Vilela
Full Text Available BACKGROUND: Sickle cell disease is a genetic, hereditary and chronic disease that affects the health of its carriers and might impair their health-related quality of life. OBJECTIVE: The aim of the current study was to assess the health-related quality of life of individuals with sickle cell disease followed at referral centers in Alagoas, Brazil. METHODS: A total of 40 individuals with sickle cell disease aged 12 to 43 years old were evaluated by means of sociodemographic and clinical questionnaires, the Medical Outcomes Study 36-Item Short Form Health Survey and the Beck Depression Inventory. The latter was applied only to adults. RESULTS: Most participants were adults (62.5% with a predominance of the SS genotype (85% with pain being the commonest complication (95%. Mood disorder was found in 40% of the adults. The patients exhibited overall impairment of quality of life, which was more pronounced among the adults and under 15-year-old adolescents. Married adults exhibited less impairment of most quality of life domains compared to unmarried adults, and the adults with mood disorder exhibited greater impairment of all quality of life domains. CONCLUSIONS: These results suggest that interventions that aim to improve vitality, pain, and mental health might contribute to maintaining high levels of quality of life in patients with sickle cell disease, especially among adults and under 15-year-old adolescents.
James G Taylor
Full Text Available Intravascular hemolysis in sickle cell anemia could contribute to complications associated with nitric oxide deficiency, advancing age, and increased mortality. We have previously reported that intense hemolysis is associated with increased risk of vascular complications in a small cohort of adults with sickle cell disease. These observations have not been validated in other populations.The distribution of serum lactic dehydrogenase (LDH values was used as a surrogate measure of intravascular hemolysis in a contemporaneous patient group and an historical adult population from the Cooperative Study of Sickle Cell Disease (CSSCD, all with sickle cell anemia. Chronic hyper-hemolysis was defined by the top LDH quartile and was compared to the lowest LDH quartile.Hyper-hemolysis subjects had higher systolic blood pressure, higher prevalence of leg ulcers (OR 3.27, 95% CI 1.92-5.53, P<0.0001, priapism (OR 2.62, 95% CI 1.13-6.90, P = 0.03 and pulmonary hypertension (OR 4.32, 95% CI 2.12-8.60, P<0.0001, while osteonecrosis (OR 0.32, 95% CI 0.19-0.54, P<0.0001 and pain (OR 0.23, 95% CI 0.09-0.55, P = 0.0004 were less prevalent. Hyper-hemolysis was influenced by fetal hemoglobin and alpha thalassemia, and was a risk factor for early death in the CSSCD population (Hazard Ratio = 1.97, P = 0.02.Steady state LDH measurements can identify a chronic hyper-hemolysis phenotype which includes less frequent vasooclusive pain and earlier mortality. Clinicians should consider sickle cell specific therapies for these patients, as is done for those with more frequent acute pain. The findings also suggest that an important class of disease modifiers in sickle cell anemia affect the rate of hemolysis.
Full Text Available Peptic ulcer disease is a relatively rare entity in the pediatric population. Given the trend toward multimodal pain control for pain crises in Sickle Cell Disease patients, they are at an increased risk of developing complications secondary to peptic ulcer disease. We discuss a case of a Sickle Cell Disease patient on multimodal therapy that presented with a perforated peptic ulcer requiring emergent surgery. While multimodal therapy helps ease the dependency on narcotic pain medication, it does present other potential problems like potential bleeding or perforation. For those that can be categorized in this select group of patients, routine surveillance with esophagogastroduodenoscopy should be considered for those at highest risk to prevent devastating complications.
Full Text Available BACKGROUND Sickle Cell Disease (SCD poses a considerable health burden in India. The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 percent. The disease has multiple acute and chronic complications, including haemolytic crises, severe pain, renal complications, thromboembolic phenomenon and overwhelming infections; some complications of SCD generate high mortality. MATERIALS AND METHODS This is a cross-sectional, hospital inpatient based, observational study. Convenience sampling technique was used to include 74 consecutively diagnosed cases of sickle cell disease children less than 14 years of age and suffering from fever. A blood culture was performed in each case prior to starting of antibiotics. RESULTS The present study comprised of 74 children with confirmed sickle cell disease admitted to ward with fever. The largest numbers of cases were between 1 to 3 years age group. Febrile episodes decreased as the age advanced. Around 30% of febrile patients presented with cough followed by 24% with pain in limbs. Anaemia was the most common physical finding (92% followed by splenomegaly in 86% cases. URTI being most common aetiology. Most common organism isolated by blood culture was Staph. aureus in 8 samples. CONCLUSION As because fever is a consistent finding in severe bacterial infections, extensive evaluation, early intervention in febrile SCD children may reduce the morbidity and mortality rates. Although, the greatest concern has traditionally been S. pneumoniae, effective vaccination has reduced its incidence. It is probably wise to treat all highly febrile children with sickle cell disease with antibiotics pending the results of blood culture. Strengthening of routine immunisation programme is needed.
Schinasi, Dana Aronson; Mistry, Rakesh D; Mistry, Rakesh
Cholelithiasis is rarely seen in toddlers and school-aged children, even in the setting of sickle cell anemia. In addition to more common etiologies, such as gastroenteritis, constipation, and urinary tract infection, the differential diagnoses of acute abdominal pain in young children with sickle cell disease include vaso-occlusive pain crisis and splenic sequestration. We describe a case of a toddler with sickle cell disease initially presenting with abdominal pain who was found to have symptomatic cholelithiasis.
Marolf, Marissa D; Chaudhary, Manu; Kaplan, Sheldon L
We present a case of hepatic abscess in a transfusion-dependent 16-year-old patient with sickle cell disease. There have been 10 such cases in sickle cell disease patients reported, with the last report published greater than a decade ago. The diagnosis of hepatic abscess merits consideration in sickle cell disease patients presenting with fever without a source and/or abdominal pain.
Noordin, M. N. A; Hudzari, R. M; Azuan, H. N; Zainon, M. S; Mohamed, S. B; Wafi, S. A
The sickle blade used in the motorised palm cutter known as “CANTAS” provides fast, easy and safe pruning and harvesting for those hard to reach applications. Jariz Technologies Company is experiencing problem in the consistency of sickle blade which was supplied by various blade manufacturers. Identifying the proper blade material with a certain hardness value would produce a consistent as well as long lasting sickle blade. A Standard Operating Procedure (SOP) in the manufacturing of the sic...
Full Text Available Testosterone deficiency is associated with sickle cell disease (SCD, but its underlying mechanism is not known. We investigated the possible occurrence and mechanism of testosterone deficiency in a mouse model of human SCD. Transgenic sickle male mice (Sickle exhibited decreased serum and intratesticular testosterone and increased luteinizing hormone (LH levels compared with wild type (WT mice, indicating primary hypogonadism in Sickle mice. LH-, dbcAMP-, and pregnenolone- (but not 22-hydroxycholesterol- stimulated testosterone production by Leydig cells isolated from the Sickle mouse testis was decreased compared to that of WT mice, implying defective Leydig cell steroidogenesis. There also was reduced protein expression of steroidogenic acute regulatory protein (STAR, but not cholesterol side-chain cleavage enzyme (P450scc, in the Sickle mouse testis. These data suggest that the capacity of P450scc to support testosterone production may be limited by the supply of cholesterol to the mitochondria in Sickle mice. The sickle mouse testis exhibited upregulated NADPH oxidase subunit gp91phox and increased oxidative stress, measured as 4-hydroxy-2-nonenal, and unchanged protein expression of an antioxidant glutathione peroxidase-1. Mice heterozygous for the human sickle globin (Hemi exhibited intermediate hypogonadal changes between those of WT and Sickle mice. These results demonstrate that testosterone deficiency occurs in Sickle mice, mimicking the human condition. The defects in the Leydig cell steroidogenic pathway in Sickle mice, mainly due to reduced availability of cholesterol for testosterone production, may be related to NADPH oxidase-derived oxidative stress. Our findings suggest that targeting testicular oxidative stress or steroidogenesis mechanisms in SCD offers a potential treatment for improving phenotypic changes associated with testosterone deficiency in this disease.
Adesina, Oyebimpe; Brunson, Ann; Keegan, Theresa H. M.; Wun, Ted
Osteonecrosis of the femoral head (ONFH) is a prevalent complication of sickle cell disease (SCD) that has not been well described in population-based cohort studies. Using California's Office of Statewide Planning and Development discharge databases (1991-2013), we estimated the cumulative incidence of ONFH after accounting for the competing risk of death and used a multivariable Cox proportional hazards regression to identify factors associated with ONFH diagnosis. We also calculated rates ...
Al jafar, Hassan [Dept. of Hematology, Amiri Hospital, Kuwait (Kuwait); Al Shemmeri, Eman [Dept. of Nuclear Medicine, Farwaniya Hospital, Al-Farwania (Kuwait); Al Shemmeri, Jehan; Al Enizi, Saud [Faculty of Medicine, Nuclear Medicine Dept, Kuwait University, Kuwait (Kuwait); Aytglu, Leena [Molecular Imaging Center, Jaber Al-Ahmad Center, Kuwait (Kuwait); Afzai, Uzma [Dept. of Nuclear Medicine, Farwaniya Hospital, Al-Farwania (Kuwait)
Brodie's abscess is a rare subacute osteomyelitis that can be found in sickle cell disease along with other bone complications. A 21-year-old female with sickle cell disease was presenting frequently to the medical casualty department for painful vasoocclusive crises and for persistent ankle pain and swelling. Hybrid imaging with single-photon emission computed tomography-computed tomography (SPECT-CT) incidentally revealed Brodie's abscess in the talus bone of the ankle, causing persisting long-standing pain. SPECT-CT is a modern technology used to scan bone to detect both anatomical and functional abnormalities with high specificity. Brodie's abscess is a rare bone inflammation that could be a hidden cause of pain and infection in sickle cell disease. Although rare, this lesion requires more attention in patients with sickle cell disease because their immunocompromised status renders them prone to this infection.
Al jafar, Hassan; Al Shemmeri, Eman; Al Shemmeri, Jehan; Al Enizi, Saud; Aytglu, Leena; Afzai, Uzma
Brodie's abscess is a rare subacute osteomyelitis that can be found in sickle cell disease along with other bone complications. A 21-year-old female with sickle cell disease was presenting frequently to the medical casualty department for painful vasoocclusive crises and for persistent ankle pain and swelling. Hybrid imaging with single-photon emission computed tomography-computed tomography (SPECT-CT) incidentally revealed Brodie's abscess in the talus bone of the ankle, causing persisting long-standing pain. SPECT-CT is a modern technology used to scan bone to detect both anatomical and functional abnormalities with high specificity. Brodie's abscess is a rare bone inflammation that could be a hidden cause of pain and infection in sickle cell disease. Although rare, this lesion requires more attention in patients with sickle cell disease because their immunocompromised status renders them prone to this infection
Hoffmann Raymond G
Full Text Available Abstract Background Caring for a child with a chronic condition, such as sickle cell disease, can have a significant impact on parents and families. In order to provide comprehensive care and support to these families, psychometrically sound instruments are needed as an initial step in measuring the impact of chronic diseases on parents and families. We sought to evaluate the psychometric properties of the PedsQL™ Family Impact Module in populations of children with and without sickle cell disease. In addition, we sought to determine the correlation between parent's well being and their proxy report of their child's health-related quality of life (HRQL. Methods We conducted a cross-sectional study of parents of children with and without sickle cell disease who presented to an urban hospital-based sickle cell disease clinic and an urban primary care clinic. We assessed the HRQL and family functioning of both groups of parents utilizing the PedsQL™ Family Impact Module. The reliability, validity and factor structure of the instrument were determined and scores from the instrument were correlated with scores from parent-proxy report of their child's HRQL using the PedsQL™ 4.0 Generic Core Scales. Results Parents of 170 children completed the module (97 parents of children with sickle cell disease and 73 parents of children without sickle cell disease. The Family Impact Module had high ceiling effects but was reliable (Cronbach's alpha > 0.80 in all scales. The empirical factor structure was generally consistent with the theoretical factor structure and supported construct validity. The Family Impact Module discriminated between parents of children with severe sickle cell disease from parents of children with mild disease or no disease in the areas of communication and worry. There were no significant differences across any of the subscales between parents of children with mild sickle cell disease and those with no disease. Parents with higher
Asma, Suheyl; Kozanoglu, Ilknur; Tarım, Ebru; Sarıturk, Cagla; Gereklioglu, Cigdem; Akdeniz, Aydan; Kasar, Mutlu; Turgut, Nurhilal H; Yeral, Mahmut; Kandemir, Fatih; Boga, Can; Ozdogu, Hakan
Sickle cell disease (SCD) is associated with chronic hemolysis and painful episodes. Pregnancy accelerates sickle cell complications, including prepartum and postpartum vasoocclusive crisis, pulmonary complications, and preeclampsia or eclampsia. Fetal complications include preterm birth and its associated risks, intrauterine growth restriction, and a high rate of perinatal mortality. The purpose of this study was to evaluate pregnancy outcomes in patients with SCD who underwent planned preventive red blood cell exchange (RBCX). We retrospectively evaluated the complications of SCD in 37 pregnant patients. Patients with SCD who had undergone prophylactic RBCX were compared with a control group who had not undergone RBCX during pregnancy. Forty-three exchange procedures were performed in 24 patients. The control group comprised 13 patients with a mean age of 27.4 ± 3.3 years who had not undergone RBCX during pregnancy. Four of the five patients who developed a vasoocclusive crisis died. There was a significant difference in maternal mortality between the study and control groups (p = 0.011). There was also a significant difference in the incidence of vasoocclusive crisis between the study and control groups. One fetal death occurred in the 20th gestational week in a patient in the control group, although there were no postpartum complications in either the babies or the mothers in the control group. This study has demonstrated that prophylactic RBCX during pregnancy is a feasible and safe procedure for prevention of complications. Given the decrease in the risks of transfusion, RBCX warrants further study. © 2014 AABB.
King, Allison A.; Strouse, John J.; Rodeghier, Mark J.; Compas, Bruce E.; Casella, James F.; McKinstry, Robert C.; Noetzel, Michael J.; Quinn, Charles T.; Ichord, Rebecca; Dowling, Michael M.; Miller, J. Philip; DeBaun, Michael R.
Children with sickle cell anemia have a high prevalence of silent cerebral infarcts (SCIs) that are associated with decreased full-scale intelligence quotient (FSIQ). While the educational attainment of parents is a known strong predictor of the cognitive development of children in general, the role of parental education in sickle cell anemia along with other factors that adversely affect cognitive function (anemia, cerebral infarcts) is not known. We tested the hypothesis that both the presence of SCI and parental education would impact FSIQ in children with sickle cell anemia. A multicenter, cross-sectional study was conducted in 19 US sites of the Silent Infarct Transfusion Trial among children with sickle cell anemia, age 5–15 years. All were screened for SCIs. Participants with and without SCI were administered the Wechsler Abbreviated Scale of Intelligence. A total of 150 participants (107 with and 43 without SCIs) were included in the analysis. In a multivariable linear regression model for FSIQ, the absence of college education for the head of household was associated with a decrease of 6.2 points (P=0.005); presence of SCI with a 5.2 point decrease (P=0.017); each $1000 of family income per capita with a 0.33 point increase (P=0.023); each increase of 1 year in age with a 0.96 point decrease (P=0.023); and each 1% (absolute) decrease in hemoglobin oxygen saturation with 0.75 point decrease (P=0.030). In conclusion, FSIQ in children with sickle cell anemia is best accounted for by a multivariate model that includes both biologic and socioenvironmental factors. PMID:24123128
Kwame Ofori Adjepong
Full Text Available An estimated 30 million people worldwide have sickle cell disease (SCD. Emergent and non-emergent surgical procedures in SCD have been associated with relatively increased risks of peri-operative mortality, vaso-occlussive (painful crisis, acute chest syndrome, post-operative infections, congestive heart failure, cerebrovascular accident and acute kidney injury. Pre-operative assessment must include careful review of the patient’s known crisis triggers, baseline hematologic profile, usual transfusion requirements, pre-existing organ dysfunction and narcotic use. Use of preoperative blood transfusions should be selective and decisions individualized based on the baseline hemoglobin, surgical procedure and anticipated volume of blood loss. Intra- and post-operative management should focus on minimizing hypoxia, hypothermia, acidosis, and intravascular volume depletion. Pre- and post-operative incentive spirometry use should be encouraged.
Fiorucci, Paolo; Biondi, Guido; Campo, Lorenzo; D'Andrea, Mirko
The high topographic and vegetation heterogeneity makes Italy vulnerable to forest fires both in the summer and in winter. In particular, northern regions are predominantly characterized by a winter fire regime, mainly due to frequent extremely dry winds from the north, while southern and central regions and the large islands are characterized by a severe summer fire regime, because of the higher temperatures and prolonged lack of precipitation. The threat of wildfires in Italy is not confined to wooded areas as they extend to agricultural areas and urban-forest interface areas. The agricultural and rural areas, in the last century, have been gradually abandoned, especially in areas with complex topography. Many of these areas were subject to reforestation, leading to the spread of pioneer species mainly represented by Mediterranean conifer, which are highly vulnerable to fire. Because of the frequent spread of fire, these areas are limited to the early successional stages, consisting mainly of shrub vegetation; its survival in the competition with the climax species being ensured by the spread of fire itself. Due to the frequency of fire ignition — almost entirely man caused — the time between fires on the same area is at least an order of magnitude less than the time that would allow the establishment of forest climax species far less vulnerable to fire. In view of the limited availability of fire risk management resources, most of which are used in the management of national and regional air services, it is necessary to precisely identify the areas most vulnerable to fire risk. The few resources available can thus be used on a yearly basis to mitigate problems in the areas at highest risk by defining a program of forest management interventions, which is expected to make a significant contribution to the problem in a few years' time. The goal of such detailed planning is to dramatically reduce the costs associated with water bombers fleet management and fire
Castro, Oswaldo L.; Machado, Roberto F.
Pulmonary hypertension affects ∼10% of adult patients with sickle cell disease (SCD), particularly those with the homozygous genotype. An increase in pulmonary artery systolic pressure, estimated noninvasively by echocardiography, helps identify SCD patients at risk for pulmonary hypertension, but definitive diagnosis requires right-heart catheterization. About half of SCD-related pulmonary hypertension patients have precapillary pulmonary hypertension with potential etiologies of (1) a nitric oxide deficiency state and vasculopathy consequent to intravascular hemolysis, (2) chronic pulmonary thromboembolism, or (3) upregulated hypoxic responses secondary to anemia, low O2 saturation, and microvascular obstruction. The remainder have postcapillary pulmonary hypertension secondary to left ventricular dysfunction. Although the pulmonary artery pressure in SCD patients with pulmonary hypertension is only moderately elevated, they have a markedly higher risk of death than patients without pulmonary hypertension. Guidelines for diagnosis and management of SCD-related pulmonary hypertension were published recently by the American Thoracic Society. Management of adults with sickle-related pulmonary hypertension is based on anticoagulation for those with thromboembolism; oxygen therapy for those with low oxygen saturation; treatment of left ventricular failure in those with postcapillary pulmonary hypertension; and hydroxyurea or transfusions to raise the hemoglobin concentration, reduce hemolysis, and prevent vaso-occlusive events that cause additional increases in pulmonary pressure. Randomized trials have not identified drugs to lower pulmonary pressure in SCD patients with precapillary pulmonary hypertension. Patients with hemodynamics of pulmonary arterial hypertension should be referred to specialized centers and considered for treatments known to be effective in other forms of pulmonary arterial hypertension. There have been reports that some of these treatments
Weinstein, R.; Zhou, M.A.; Bartlett-Pandite, A.; Wenc, K.
Patients with sickle cell anemia experience severe vascular occlusive phenomena including acute pain crisis and cerebral infarction. Obstruction occurs at both the microvascular and the arterial level, and the clinical presentation of vascular events is heterogeneous, suggesting a complex etiology. Interaction between sickle erythrocytes and the endothelium may contribute to vascular occlusion due to alteration of endothelial function. To investigate this hypothesis, human vascular endothelial cells were overlaid with sickle or normal erythrocytes and stimulated to synthesize DNA. The erythrocytes were sedimented onto replicate monolayers by centrifugation for 10 minutes at 17 g to insure contact with the endothelial cells. Incorporation of 3H-thymidine into endothelial cell DNA was markedly inhibited during contact with sickle erythrocytes. This inhibitory effect was enhanced more than twofold when autologous sickle plasma was present during endothelial cell labeling. Normal erythrocytes, with or without autologous plasma, had a modest effect on endothelial cell DNA synthesis. When sickle erythrocytes in autologous sickle plasma were applied to endothelial monolayers for 1 minute, 10 minutes, or 1 hour and then removed, subsequent DNA synthesis by the endothelial cells was inhibited by 30% to 40%. Although adherence of sickle erythrocytes to the endothelial monolayers was observed under these experimental conditions, the effect of sickle erythrocytes on endothelial DNA synthesis occurred in the absence of significant adherence. Hence, human endothelial cell DNA synthesis is partially inhibited by contact with sickle erythrocytes. The inhibitory effect of sickle erythrocytes occurs during a brief (1 minute) contact with the endothelial monolayers, and persists for at least 6 hours of 3H-thymidine labeling
Full Text Available The present essay will analyze the offence of prescribing high risk narcotics and trading or illicit purchasing of high risk narcotics, as it was regulated - together with other offences - by Law no 143 of July 26, 2000 on preventing and fighting against the traffic and illicit consumption of narcotics. The same law defines the meaning of such a phrase “substances which are under national control” by mentioning the fact that they are the narcotics and their precursors listed in Annexes I-IV of the law. The analysis of the offence of prescribing the high risk narcotics and trading or illicit purchasing of high risk narcotics is following the already known structure mentioned in the doctrine and which consists of: object and subjects of the offence, its constituent content: the objective side with its material element, the immediate consequence and causality connections; the subjective side of the offence, as well as forms and modalities of these offences, and the applicable sanctions, of course.
Chen, Mingyi; Qiu, Hong; Lin, Xin; Nam, David; Ogbu-Nwobodo, Lucy; Archibald, Hannah; Joslin, Amelia; Wun, Ted; Sawamura, Tatsuya; Green, Ralph
Lectin-like oxidized low-density lipoprotein (LDL) receptor-1 (LOX-1) is an endothelial receptor for oxidized LDL. Increased expression of LOX-1 has been demonstrated in atherosclerotic lesions and diabetic vasculopathy. In this study, we investigate the expression of LOX-1 receptor in sickle cell disease (SCD) vasculopathy. Expression of LOX-1 in brain vascular endothelium is markedly increased and LOX-1 gene expression is upregulated in cultured human brain microvascular endothelial cells by incubation with SCD erythrocytes. Also, the level of circulating soluble LOX-1 concentration is elevated in the plasma of SCD patients. Increased LOX-1 expression in endothelial cells is potentially involved in the pathogenesis of SCD vasculopathy. Soluble LOX-1 concentration in SCD may provide a novel biomarker for risk stratification of sickle cell vascular complications. PMID:27519944
... Influenza Types Seasonal Avian Swine Variant Pandemic Other People at High Risk of Developing Flu–Related Complications ... related complications if they get sick with influenza. People at High Risk for Developing Flu-Related Complications ...
Effmann, E.L.; Kinney, T.R.; Utz, J.A.; Merten, D.F.; Herfkens, R.J.
The authors evaluated eight patients with sickle cell disease (mean age, 15.75 years; range 5-19 years) using MR imaging performed 24-72 hours after hospital admission for crisis. Coronal images of the lower extremities were obtained with a General Electric 1.5-T system and pulse sequences of TR/TE = 500/25 msec and 2,000/40, 80 msec. In three patients a mild decrease in signal intensity was seen on both T1- and T2-weighted images, probably secondary to marrow hyperplasia. In two patients a marked decrease in signal intensity was seen on both T1- and T2-weighted images, probably secondary to the diamagnetic effects of marrow iron. Six patients had bone infarct(s) which appeared as well-defined areas with prolonged T2 relaxation times. MR imaging appears promising for the evaluation of bone marrow in sickle cell anemia
Chindima, Nanjela; Nkhoma, Panji; Sinkala, Musalula; Zulu, Mildred; Kafita, Doris; Simakando, Marah; Mwaba, Florence; Mantina, Hamakwa; Mutale, Mubanga
Sickle cell disease is a group of hemoglobin (Hb) disorders resulting from the inheritance of the sickle β-globin gene. It is the most common pathological Hb mutation worldwide with 75% being born in Sub-Saharan Africa. This study aims to determine if dried blood spots (DBSs) can be used for diagnosis of sickle cell in newborns. In Zambia, there is no neonatal screening program for sickle cell anemia (SCA), yet it has been proved that early diagnosis by newborn screening (NBS) using DBSs and access to comprehensive care results in survival to adulthood of over 96% of sickle cell patients. A cross-sectional study was carried out at the University Teaching Hospital to determine whether DBSs can be used to diagnose sickle cell using Hb electrophoresis. Results from DBSs stored for 2 weeks were then compared to those obtained using freshly collected whole blood. To evaluate performance characteristics, the following values were used: true positive, false positive, true negative, and false negative. Ninety-seven participants were included in this study. DBSs had a sensitivity of 100%, a specificity of 94.7%, positive predictive value of 96.7%, negative predictive value of 100%, overall efficiency of 97.9%, and a Kappa r 2 , P < 0.0001 in comparison to fresh whole blood which we used as the gold standard. The use of DBSs can be recommended for NBS of SCA in Zambia due to its high sensitivity, specificity, and stability of hemoglobin.
Full Text Available Monica Bhatia,1 Sujit Sheth21Division of Pediatric Hematology/Oncology/Stem Cell Transplantation, Columbia University Medical Center, 2Division of Pediatric Hematology and Oncology, Weill Cornell Medical College, New York, NY, USAAbstract: Hematopoietic stem cell transplantation remains the only curative treatment currently in use for patients with sickle cell disease (SCD. The first successful hematopoietic stem cell transplantation was performed in 1984. To date, approximately 1,200 transplants have been reported. Given the high prevalence of this disorder in Africa, and its emergence in the developed world through immigration, this number is relatively small. There are many reasons for this; primary among them are the availability of a donor, the risks associated with this complex procedure, and the cost and availability of resources in the developing world. Of these, it is fair to say that the risks associated with the procedure have steadily decreased to the point where, if currently performed in a center with experience using a matched sibling donor, overall survival is close to 100% and event-free survival is over 90%. While there is little controversy around offering hematopoietic stem cell transplantation to symptomatic SCD patients with a matched sibling donor, there is much debate surrounding the use of this modality in “less severe” patients. An overview of the current state of our understanding of the pathology and treatment of SCD is important to show that our current strategy is not having the desired impact on survival of homozygous SCD patients, and should be changed to significantly impact the small proportion of these patients who have matched siblings and could be cured, especially those without overt clinical manifestations. Both patient families and providers must be made to understand the progressive nature of SCD, and should be encouraged to screen full siblings of patients with homozygous SCD for their potential to
Madani, G.; Papadopoulou, A.M.; Holloway, B.; Robins, A.; Davis, J.; Murray, D.
Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD
Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: email@example.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)
Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.
Wolff, M.H.; Sty, J.R.
Bone infarction is common in sickle cell disease; however, involvement of the orbit is not. Only four cases have been reported in the English literature. We describe a patient who presented with headache, proptosis and lid edema due to infarction of the sphenoid bone. The combination of radionuclide bone imaging and computed tomography (CT) of the orbit were useful in differentiating bone infarction from other etiologies of proptosis. (orig.)
Matthew S. Karafin
Full Text Available In patients with sickle cell disease, hyperhemolysis is a rare but life-threatening complication of transfusion. In this case report, we describe a 61 year-old woman with hemoglobin sickle cell (SC disease and history of alloimmunization who developed hyperhemolysis associated with a transfusion. She was found to have a warm and a clinically-significant cold autoantibody. Severe anemia (Hb 2.7 g/dL with reticulocytopenia and thrombocytopenia prompted a bone marrow biopsy, which demonstrated extensive bone marrow necrosis. Despite treatment, the bone marrow failure did not improve and the patient died on hospital day 38. This case illustrates the potential risks of transfusion in a patient with sickle cell disease, especially one with previous hemolytic reactions. While uncommon, hyperhemolysis can cause death, in this case by extensive bone marrow necrosis. In patients with sickle cell disease, judicious use of red cell transfusions with phenotypically-matched units can diminish, but never completely abrogate, the risks associated with transfusion.
Abkarian, Manouk; Loiseau, Etienne; Massiera, Gladys
Sickle Cell Anemia is a disorder of the microcirculation caused by a genetic point mutation that produces an altered hemoglobin protein called HbS. HbS self-assembles reversibly into long rope like fibers inside the red blood cells. The resulting distorded sickled red blood cells are believed to block the smallest capillaries of the tissues producing anemia. Despite the large amount of work that provided a thorough understanding of HbS polymerization in bulk as well as in intact red blood cells at rest, no consequent cellular scale approaches of the study of polymerization and its link to the capillary obstruction have been proposed in microflow, although the problem of obstruction is in essence a circulatory problem. Here, we use microfluidic channels, designed to mimic physiological conditions (flow velocity, oxygen concentration, hematocrit...) of the microcirculation to carry out a biomimetic study at the cellular scale of sickled cell vaso-occlusion. We show that flow geometry, oxygen concentration, white blood cells and free hemoglobin S are essential in the formation of original cell aggregates which could play a role in the vaso-occlusion events.
Durosinmi, M.A.; Ojo, J.O.; Oluwole, A.F.; Akanle, O.A.; Arshed, W.; Spyrou, N.M.
Instrumental Neutron Activation Analysis (INAA) and Proton-Induced X-ray Emission (PIXE) analysis (employed as a complementary technique) have been used to determine the concentration of 11 elements in blood samples and its components erythrocytes and plasma obtained from three groups of subjects in Nigeria viz: sickle cell anaemia (SCA) subjects, subjects with sickle cell trait and normal control subjects. The results suggest that SCA subjects have significantly higher concentrations of Na, Cl, Ca and Cu in their whole blood and erythrocytes and a higher concentration of Cl and Cu in their plasma relative to control subjects. Furthermore, a significantly lower concentration of K, Fe, Zn, Se, Br and Rb were found in the whole blood and erythrocytes of the SCA subjects as compared to the controls while the concentration of K and Fe in the plasma of the SCA subjects were however, found to be significantly higher than that of the control group. The study also shows that there were no significant differences between the concentration of these 11 elements in the group with sickle cell trait and the normal control group. (author) 20 refs.; 4 tabs
Nnebe-Agumadu U H, and Abiodun P O. Hepatitis B Virus Infection in Patients with Homozygous Sickle Cell Disease (HbSS): Need for Intervention. Annals Biomedical Sciences 2002; 1:79-87. This is a prospective study of 213 patients with sickle cell anaemia (SCA) (112 males and 101 females) aged 6 months to 18 years ...
DeBaun, Michael R.; Derdeyn, Colin P.; McKinstry, Robert C., III
The most devastating complication of sickle cell anemia is cerebral infarction, affecting [approximately]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood.…
Sickle cell anaemia is associated with elevated oxidative stress via increase generation of reactive oxygen species (ROS), and decline in antioxidant defences. Increased oxidative stress is thought to play a role in the development of sickle cell anaemic complications. In the current study, vitamins A, C, and E levels were ...
level as sickle cell disease. Sickle cell anemia is due to the substitution of thymine for adenine ..... and local instillation of vaso-active drugs, shunting ... oral pseudoephedrine at night as an attempt to ..... Management of Cancer. Pain. Clinical ...
Full Text Available Medical literature detailing muscular complications of sickle cell anemia is sparse and limited to a few case-reports. Features consistent with myositis and myonecrosis are often overlooked and patients are inadequately treated, leading to unforeseen complications. We report an interesting case of sickle cell myonecrosis and review the existing literature on this subject.
Lucas, Matthew D.; Devlin, Katharine M.
The participation of a student with Sickle Cell Anemia in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of students with Sickle Cell Anemia and present basic solutions to improve the experience of these students in the recess setting. Initially the definition,…
Keywords: Alpha thalassemia, sickle cell anaemia patients, Kampala, Uganda. DOI: http://dx.doi.org/10.4314/ahs.v15i2.48. Introduction. In the early 1960's many adults with sickle cell anaemia. (SCA) as well as those with mild disease were reported in Jamaica1. Various factors, both genetic and environmental, are.
... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a...
Background: Sickle cell disease is a common comorbidity in patient presenting for surgical care in our hospitals. The aim of this study was to evaluate the outcome of anaesthetic management of sickle cell disease patients in our hospital. Patients and method: A prospective audit was conducted for a period of 12 months, ...
Background: Sickle cell anaemia (SCA) is a health problem worldwide. Almost all the organs of the body are affected by the combined effect of chronic hypoxia, repeated infarction and recurrent infections. Renal function may be progressively impaired in them as a result of sickling in the renal medulla. Microscopic ...
Background: Leptin is a peptide hormone secreted by adipocytes and acts to promote weight loss by decreasing food intake, increasing metabolic rate and energy expenditure. In sickle cell anaemia (SCA), poor growth and nutritional status are common clinical features. Adolescence is a period of rapid growth; in sickle cell ...
Azza A.G. Tantawy
to that of the general population. Nonetheless, given the large number of people with sickle cell ... 321. 4.2. Other genetic factors predisposing to exertional rhabdomyolysis . ..... unpressurized air flight or ground travel such as mountain climbing [20,21]. .... It is almost exclusive to young patients and associated with sickle cell.
The serum levels of the thyroid hormones (T4 and T3) and thyrotropin (TSH) were measured by radio-immunoassay (RIA) in the steady state of 10 homozygous sickle cell anaemia patients and 10 normal subjects of the same age group in years (15-25) who were the control group. The results showed that sickle cell disease ...
Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...
Bush, Adam M.; Borzage, Matthew T.; Choi, Soyoung; Václavů, Lena; Tamrazi, Benita; Nederveen, Aart J.; Coates, Thomas D.; Wood, John C.
Stroke is common in children with sickle cell disease and results from an imbalance in oxygen supply and demand. Cerebral blood flow (CBF) is increased in patients with sickle cell disease to compensate for their anemia, but adequacy of their oxygen delivery has not been systematically demonstrated.
Schnog, JJB; Lard, LR; Rojer, RA; Van der Dijs, FPL; Muskiet, FAJ; Duits, AJ
Vasoocclusion leads to pain, chronic organ damage, and a decreased life expectancy in patients with sickle cell disease. Therapeutic options for sickle cell disease have usually been evaluated according to their capacity for reducing the frequency of vasoocclusive crises requiring clinical
Godfrey, Gwendolyn J; Lockwood, William; Kong, Maiying; Bertolone, Salvatore; Raj, Ashok
Erythrocytapheresis, or red blood cell exchange transfusion (RBCX), with donor red blood cell (RBC) units is now increasingly used in the treatment of acute and chronic complications of sickle cell disease (SCD). As in all transfusions, RCBX carries a risk of immunization against foreign antigen on transfused cells. However, by selecting donor units with RBC phenotypes similar to the patient, the risk of allo- and autoimmunization can be reduced. The formation of RBC alloantibodies and/or autoantibodies in 32 multitransfused pediatric SCD patients undergoing monthly RBCX over a 11-year period (12/1998 to 12/2009) was evaluated utilizing a retrospective patient chart review at Kosair Children's Hospital, Louisville, Kentucky. After starting C, E, K antigen-matched RBCX, the rate of clinically significant allo-immunization decreased from 0.189/100 to 0.053/100 U, with a relative risk of 27.9%. Likewise, the rate of autoimmunization decreased from 0.063/100 to 0.035/100 U, with a relative risk of 55.9%. After controlling for clinically insignificant antibodies, our auto- and alloimmunization rate was much less than previously reported values. In addition, the incidence of clinically significant allo- and autoimmunization decreased in our patient population after starting minor antigen-matched RBCX. These results suggest that by matching selected RBC phenotypes, there may be an association in the risk of allo- and autoimmunization of multi-transfused SCD patients.
van Stenus, Cherelle M.V.; Boere-Boonekamp, Magda M.; Kerkhof, Erna F.G.M.; Need, Ariana
Problem: It is unknown if client experiences with perinatal healthcare differ between low-risk and high-risk women. Background: In the Netherlands, risk selection divides pregnant women into low- and high-risk groups. Receiving news that a pregnancy or childbirth has an increased likelihood of
Ahmed, Shahid; Siddiqui, Anita K; Siddiqui, Rina K; Kimpo, Miriam; Russo, Linda; Mattana, Joseph
Sickle cell disease is characterized by chronic hemolytic anemia and vaso-occlusive painful crisis. The vascular occlusion in sickle cell disease is a complex process and accounts for the majority of the clinical manifestations of the disease. Abdominal pain is an important component of vaso-occlusive painful crisis and may mimic diseases such as acute appendicitis and cholecystitis. Acute pancreatitis is rarely included as a cause of abdominal pain in patients with sickle cell disease. When it occurs it may result form biliary obstruction, but in other instances it might be a consequence of microvessel occlusion causing ischemia. In this series we describe four cases of acute pancreatitis in patients with sickle cell disease apparently due to microvascular occlusion and ischemic injury to the pancreas. All patients responded to conservative management. Acute pancreatitis should be considered in the differential diagnosis of abdominal pain in patients with sickle cell disease. Copyright 2003 Wiley-Liss, Inc.
Kim, Youngchan; Higgins, John M; Dasari, Ramachandra R; Suresh, Subra; Park, YongKeun
We present the anisotropic light scattering of individual red blood cells (RBCs) from a patient with sickle cell disease (SCD). To measure light scattering spectra along two independent axes of elongated-shaped sickle RBCs with arbitrary orientation, we introduce the anisotropic Fourier transform light scattering (aFTLS) technique and measured both the static and dynamic anisotropic light scattering. We observed strong anisotropy in light scattering patterns of elongated-shaped sickle RBCs along its major axes using static aFTLS. Dynamic aFTLS analysis reveals the significantly altered biophysical properties in individual sickle RBCs. These results provide evidence that effective viscosity and elasticity of sickle RBCs are significantly different from those of the healthy RBCs.
Sparkenbaugh, Erica; Pawlinski, Rafal
Sickle cell disease is the most common inherited hematologic disorder that leads to the irreversible damage of multiple organs. Although sickling of red blood cells and vaso-occlusion are central to the pathophysiology of sickle cell disease the importance of hemolytic anemia and vasculopathy has been recently recognized. Hypercoagulation state is another prominent feature of sickle cell disease and is mediated by activation of both intrinsic and extrinsic coagulation pathways. Growing evidence demonstrates that coagulation may not only contribute to the thrombotic complications, but also to vascular inflammation associated with this disease. This article summarizes the role of vascular inflammation and coagulation activation, discusses potential mechanisms responsible for activation of coagulation and reviews recent data demonstrating the crosstalk between coagulation and vascular inflammation in sickle cell disease. PMID:23593937
Cervical cancer is the most common female cancer in northern Nigeria, yet the pattern of infection with human papillomavirus, the principal aetiologic agent is unknown. This was a preliminary study conducted in two referral hospitals in order to establish base-line data on the prevalence and risk factors for the infection in ...
Khayat André Salim
Full Text Available Hydroxyurea is commonly used in the treatment of myeloproliferative diseases and in patients with sickle cell disease (SCD. The use of this antineoplastic agent in patients with SCD is justified because of the drug's ability to increase fetal hemoglobin levels, thereby decreasing the severity of SCD. However, high doses or prolonged treatment with hydroxyurea can be cytotoxic or genotoxic for these patients, with an increased risk of developing acute leukemia. This danger can be avoided by monitoring the lymphocytes of patients treated with hydroxyurea. Cytogenetic tests are important endpoints for monitoring the physiological effects of physical and chemical agents, including drugs. In this work, we assessed the genotoxicity of hydroxyurea in short-term cultures of lymphocytes from SCD patients. Hydroxyurea was not cytotoxic or genotoxic at the concentrations tested in the G2 phase of the cell cycle. These results support the use of hydroxyurea in the treatment of SCD, although further work is necessary to understand the effects of this drug in vivo.
Fusar-Poli, Paolo; Borgwardt, Stefan; Bechdolf, Andreas; Addington, Jean; Riecher-Rössler, Anita; Schultze-Lutter, Frauke; Keshavan, Matcheri; Wood, Stephen; Ruhrmann, Stephan; Seidman, Larry J.; Valmaggia, Lucia; Cannon, Tyrone; Velthorst, Eva; De Haan, Lieuwe; Cornblatt, Barbara; Bonoldi, Ilaria; Birchwood, Max; McGlashan, Thomas; Carpenter, William; McGorry, Patrick; Klosterkötter, Joachim; McGuire, Philip; Yung, Alison
Context During the past 2 decades, a major transition in the clinical characterization of psychotic disorders has occurred. The construct of a clinical high-risk (HR) state for psychosis has evolved to capture the prepsychotic phase, describing people presenting with potentially prodromal symptoms. The importance of this HR state has been increasingly recognized to such an extent that a new syndrome is being considered as a diagnostic category in the DSM-5. Objective To reframe the HR state in a comprehensive state-of-the-art review on the progress that has been made while also recognizing the challenges that remain. Data Sources Available HR research of the past 20 years from PubMed, books, meetings, abstracts, and international conferences. Study Selection and Data Extraction Critical review of HR studies addressing historical development, inclusion criteria, epidemiologic research, transition criteria, outcomes, clinical and functional characteristics, neurocognition, neuroimaging, predictors of psychosis development, treatment trials, socioeconomic aspects, nosography, and future challenges in the field. Data Synthesis Relevant articles retrieved in the literature search were discussed by a large group of leading worldwide experts in the field. The core results are presented after consensus and are summarized in illustrative tables and figures. Conclusions The relatively new field of HR research in psychosis is exciting. It has the potential to shed light on the development of major psychotic disorders and to alter their course. It also provides a rationale for service provision to those in need of help who could not previously access it and the possibility of changing trajectories for those with vulnerability to psychotic illnesses. PMID:23165428
Jarrett, Kevin; Williams, Mary; Horn, Spencer; Radford, David; Wyss, J. Michael
"Sickle cell anemia: tracking down a mutation" is a full-day, inquiry-based, biology experience for high school students enrolled in genetics or advanced biology courses. In the experience, students use restriction endonuclease digestion, cellulose acetate gel electrophoresis, and microscopy to discover which of three putative patients…
Adekile, Adekunle; Hassan, Meaad; Asbeutah, Akram; Al-Hinai, Mohamed; Trad, Omar; Farhan, Nayef
Transcranial Doppler ultrasound is used to identify patients with sickle cell disease (SCD) at risk for stroke. We performed transcranial Doppler studies in patients from 4 countries in the Arabian Peninsula (Kuwait, Oman, Iraq, and United Arab Emirates) to document the prevalence of abnormal transcranial Doppler findings. The patients were recruited from outpatient clinics and studied in a steady state. Transcranial Doppler examinations were performed with standard equipment by experienced operators. The time-averaged maximum mean velocity (TAMMV) was documented in the arteries of the circle of Willis. The hemoglobin (Hb) genotype was confirmed, and the fetal Hb level and complete blood counts were determined. There were 415 patients in the study, aged 2 to 18 years (mean ± SD, 8.6 ± 3.5 years). None of the patients had an abnormal TAMMV (ie, > 200 cm/s), whereas only 13 (3.1%), all from Iraq, had conditional values (170-200 cm/s) in the right middle cerebral artery and 7 (1.7%) in the left middle cerebral artery. There were no consistent TAMMV differences among male and female patients or in patients with different Hb genotypes (sickle cell anemia, sickle cell β 0- thalassemia, and sickle D). The use of hydroxyurea was associated with a lower TAMMV, whereas a blood transfusion history had no influence. Total hemoglobin, reticulocyte count, serum bilirubin, and fetal Hb values showed varying degrees of association with the TAMMV in the different vessels. This study has demonstrated the rarity of abnormal transcranial Doppler findings among Peninsular Arab patients with SCD. The guidelines for transcranial Doppler screening in this population need further studies and recommendations. © 2018 by the American Institute of Ultrasound in Medicine.
Mouterde, Anne-Laure; Bourdelin, Magali; Maison, Ophélie; Coursier, Sandra; Bontemps, Hervé
By the Order of 6 April 2011, the pharmacist must validate all the prescriptions containing "high-risk drugs" or those of "patients at risk". To optimize this clinical pharmacy activity, we identified high-risk drugs. A list of high-risk drugs has been established using literature, pharmacists' interventions (PI) performed in our hospital and a survey sent to hospital pharmacists. In a prospective study (analysis of 100 prescriptions for each high-risk drug selected), we have identified the most relevant to target. We obtained a statistically significant PI rate (P<0.05) for digoxin, oral anticoagulants direct, oral methotrexate and colchicine. This method of targeted pharmaceutical validation based on high-risk drugs is relevant to detect patients with high risk of medicine-related illness. Copyright © 2016 Société française de pharmacologie et de thérapeutique. Published by Elsevier Masson SAS. All rights reserved.
Amujoyegbe, O O; Idu, M; Agbedahunsi, J M; Erhabor, J O
The present study entails the medicinal plant species used to manage sickle cell disorder in Southern States of Nigeria. The ethnomedicinal information was gathered through multistage approach from three geopolitical zones of Southern Nigeria, which were purposively selected. Semi-structured questionnaires were administered on 500 respondents in 125 locations. The ethnomedicinal data collected were analyzed using quantitative value indices such as fidelity level (percentage) and use value. The information got was cross checked using literature search and other related materials. Five hundred respondents comprising 53.12% females and 46.88% males were observed. It was noted that 26.70% were illiterate while 73.30% had formal education. Seventy-nine percent is traditional healers, 27% herb traders and the other 4% are those who have awareness of sickle cell disease . One hundred and seventy five plant species belonging to 70 families, of which Fabaceae made up 26.76% and Euphorbiaceae 16.90% forming the highest occurrence. It was observed that leaves were the most common plant part used (69.10%) followed by root (15%) and stem bark (14%) in the preparation for sickle cell management. Majority (48.57%) of these plants were harvested from wild with 38.86% being trees. Citrus aurantifolia and Newbouldia laevis had highest use values of 0.69 and 0.64 respectively. Plants with the least use value (0.001) include Abrus canescens, Acacia xanthophloea, Aerva lanata and Axonopus compressus. The result of fidelity level values of the plant species for the management of Sickle Cell Disorder (SCD) revealed that Citrus aurantifolia had the highest value of 70.2% while Angraecum distichum and Axonopus compressus had the lowest Fidelity Level value of 0.18%. The study revealed that people in the studied areas were well grounded in the medicinal plants used to manage sickle cell disease. This study reported for the first time 102 plant species having anti-sickling potentials with
Onwubalili, J K
The belief in reincarnation, widely held in Nigeria for many centuries, has waned in the past 30 years. It is most probable that the "reincarnate" child had sickle-cell anaemia, since this disease would explain all the clinical features and natural history of "reincarnation". Most reincarnate children died of Plasmodium falciparum or bacterial infection. The prevailing high birth rate and familial predisposition almost ensured that another sickler was born to the family. The widespread introduction of antimalarial chemoprophylaxis and therapy, the recognition of sickle-cell disease, and some measure of improvement in health care and socioeconomic standards have resulted in an increase in life expectancy for children with HbSS and consequently near-total total extinction of the people's belief in reincarnation.
Al-Salem, Ahmed H
Sickle cell anemia (SCA), which is characterized by high hemoglobin (Hb) F level and persistent splenomegaly into the older age group (up to 18 years of age) or even adults, is one of the commonest hemoglobinopathies in the Eastern Province of Saudi Arabia. This makes them liable to develop splenic complications requiring splenectomy. This is a review of our experience in the management of 134 children with SCA who had splenectomy as part of their management at our hospital, with emphasis given to the indications and complications of splenectomy. The medical records of all children who had splenectomy at our hospital were retrospectively reviewed for the following: age at splenectomy, sex, Hb electrophoresis, indication for splenectomy, preoperative investigations, type of surgery, spleen weight, histology, perioperative management, and postoperative complications. From 1990 to 2004, 170 children with various hematologic disorders had splenectomy at our hospital. Of these, 134 had SCA (118 had sickle cell disease and 16 had sickle-beta-thalassemia). Recurrent acute splenic sequestration crisis (ASSC) was the commonest indication for splenectomy in 103 (76.9%) patients, followed by hypersplenism in 18 (13.4%). Seven (5.2%) of our patients had splenectomy for splenic abscess (SA) and 2 had splenectomy for massive splenic infarction; 103 (61 boys, 42 girls) patients with a mean age of 7.6 years (range, 1.8-13 years) had splenectomy for ASSC. Their mean Hb F level was 20.5% (range, 9.2%-39.6%). Thirty-two of them had major attacks. Their Hb levels at the time of admission ranged from 1.4 to 4.1 g/dL (mean, 2.5 g/dL). The remaining 71 had minor recurrent attacks. Eighteen had splenectomy for hypersplenism and all had a significant increase in their blood parameters after splenectomy. Seven had splenectomy for SA. In 5 patients, Salmonella was the causative organism; in 1, it was Enterobacter sakazaki, whereas in 1, no organisms were identified. Two of our patients had
Helmi, Nawal; Andrew, Peter W; Pandya, Hitesh C
Impaired immunity and tissue hypoxia-ischemia are strongly linked with Streptococcus pneumoniae pathogenesis in patients with sickle cell anemia. Perfluorocarbon emulsions (PFCEs) have high O2-dissolving capacity and can alleviate tissue hypoxia. Here, we evaluate the effects of intravenous PFCE therapy in transgenic sickle cell (HbSS) mice infected with S. pneumoniae. HbSS and C57BL/6 (control) mice intravenously infected with S. pneumoniae were treated intravenously with PFCE or phosphate-buffered saline (PBS) and then managed in either air/O2 (FiO2 proportion, 50%; hereafter referred to as the PFCE-O2 and PBS-O2 groups) or air only (hereafter, the PFCE-air and PBS-air groups) gas mixtures. Lungs were processed for leukocyte and bacterial counts and cytokine measurements. HbSS mice developed severe pneumococcal infection significantly faster than C57BL/6 mice (Kaplan-Maier analysis, P < .05). PFCE-O2-treated HbSS mice had significantly better survival at 72 hours than HBSS mice treated with PFCE-air, PBS-O2, or PBS-air (P < .05). PFCE-O2-treated HbSS mice also had significantly lower pulmonary leukocyte counts, lower interleukin 1β and interferon γ levels, and higher interleukin 10 levels than PFCE-air-treated HbSS mice. Clearance of S. pneumoniae from lungs of HbSS mice or C57BL/6 mice was not altered by PFCE treatment. Improved survival of PFCE-O₂-treated HbSS mice infected with S. pneumoniae is associated with altered pulmonary inflammation but not enhanced bacterial clearance. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: firstname.lastname@example.org.
Daniela O.W. Rodrigues
Full Text Available Abstract Objective: To verify genetic determinants associated with stroke in children with sickle cell disease (SCD. Methods: Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal, haplotypes of the beta globin chain cluster, and stroke. The final analysis was conducted with 66 children with sickle cell anemia (SCA, using the chi-squared test in the program SPSS® version 14.0. Results: Among children with SCD, 60% had SCA. The prevalence of coexistence with α-thal was 30.3% and the Bantu haplotype (CAR was identified in 89.2%. The incidence of stroke was significantly higher in those with SCA (27.3% vs. 2.3%; p = 0.001 and males (24.1% vs. 9.6%; p = 0.044. The presence of α-thal (p = 0.196, the CAR haplotype (p = 0.543, and socioeconomic factors were not statistically significant in association with the occurrence of stroke. Conclusion: There is a high incidence of stroke in male children and in children with SCA. Coexistence with α-thal and haplotypes of the beta globin chain cluster did not show any significant association with stroke. The heterogeneity between previously evaluated populations, the non-reproducibility between studies, and the need to identify factors associated with stroke in patients with SCA indicate the necessity of conducting further research to demonstrate the relevance of genetic factors in stroke related to SCD.
Rodrigues, Daniela O W; Ribeiro, Luiz C; Sudário, Lysla C; Teixeira, Maria T B; Martins, Marina L; Pittella, Anuska M O L; Junior, Irtis de O Fernandes
To verify genetic determinants associated with stroke in children with sickle cell disease (SCD). Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal), haplotypes of the beta globin chain cluster, and stroke. The final analysis was conducted with 66 children with sickle cell anemia (SCA), using the chi-squared test in the program SPSS ® version 14.0. Among children with SCD, 60% had SCA. The prevalence of coexistence with α-thal was 30.3% and the Bantu haplotype (CAR) was identified in 89.2%. The incidence of stroke was significantly higher in those with SCA (27.3% vs. 2.3%; p=0.001) and males (24.1% vs. 9.6%; p=0.044). The presence of α-thal (p=0.196), the CAR haplotype (p=0.543), and socioeconomic factors were not statistically significant in association with the occurrence of stroke. There is a high incidence of stroke in male children and in children with SCA. Coexistence with α-thal and haplotypes of the beta globin chain cluster did not show any significant association with stroke. The heterogeneity between previously evaluated populations, the non-reproducibility between studies, and the need to identify factors associated with stroke in patients with SCA indicate the necessity of conducting further research to demonstrate the relevance of genetic factors in stroke related to SCD. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.
Full Text Available OBJECTIVES: To determine whether kidney disease and hemolysis are associated with bone mass density in a population of adult Brazilian patients with sickle cell disease. INTRODUCTION: Bone involvement is a frequent clinical manifestation of sickle cell disease, and it has multiple causes; however, there are few consistent clinical associations between bone involvement and sickle cell disease. METHODS: Patients over 20 years of age with sickle cell disease who were regularly followed at the Hematology and Hemotherapy Center of Campinas, Brazil, were sorted into three groups, including those with normal bone mass density, those with osteopenia, and those with osteoporosis, according to the World Health Organization criteria. The clinical data of the patients were compared using statistical analyses. RESULTS: In total, 65 patients were included in this study: 12 (18.5% with normal bone mass density, 37 (57% with osteopenia and 16 (24.5% with osteoporosis. Overall, 53 patients (81.5% had bone mass densities below normal standards. Osteopenia and osteoporosis patients had increased lactate dehydrogenase levels and reticulocyte counts compared to patients with normal bone mass density (p<0.05. Osteoporosis patients also had decreased hemoglobin levels (p<0.05. Hemolysis was significantly increased in patients with osteoporosis compared with patients with osteopenia, as indicated by increased lactate dehydrogenase levels and reticulocyte counts as well as decreased hemoglobin levels. Osteoporosis patients were older, with lower glomerular filtration rates than patients with osteopenia. There was no significant difference between the groups with regard to gender, body mass index, serum creatinine levels, estimated creatinine clearance, or microalbuminuria. CONCLUSION: A high prevalence of reduced bone mass density that was associated with hemolysis was found in this population, as indicated by the high lactate dehydrogenase levels, increased
dos Santos, Juliana Pereira; Gomes Neto, Mansueto
Background Sickle cell anemia is a chronic inherited disease, widespread in the Brazilian population due to the high degree of miscegenation in the country. Despite the high prevalence, there are few studies describing the characteristics of patients and the impact of the disease on quality of life. Objective To describe the sociodemographic profile and the impact of the disease on the quality of life of sickle cell anemia patients. Methods Over 18-year-old patients with sickle cell anemia who attended meetings held by the Associação Baiana de Portadores de Doenças Falciformes, an association for sickle cell anemia patients in Bahia, were interviewed. Sociodemographic data were collected and the generic the Medical Outcomes 36-Item Short-Form Health Survey (SF-36) questionnaire, which is used to assess quality of life, was applied. The analysis of the descriptive statistics was performed using the Statistics Program for the Social Sciences software. Results Thirty-two mostly female (65.6%) patients were interviewed. The mean age was 31.9 ± 12.67 years, 50.0% considered themselves black, 68.8% did not work and 87.5% had per capita income below the poverty line (up to one and a half minimum wages). The SF-36 scores were: limitation by physical aspects 26.56, functional capacity 28.9, emotional aspects 30.20, social aspects, 50.0, pain 50.31, mental health 54.62, general health status 56.09 and vitality 56.71. This shows that the disease has a huge impact on the patients' quality of life. Conclusion The disease interferes in the working capacity of individuals, who mostly have low incomes and impaired access to healthcare services and significantly impacts on their quality of life. PMID:24106440
An assessment of high risk sexual behaviour and HIV transmission among migrant oil workers in the Niger Delta area of Nigeria. ... questionnaires to evaluate key high – risk sexual behavioral parameters such as multiplicity of sexual partners, bisexuality (closet homosexuality), high grade sexual behaviour and lesbianism.
Proliferative sickle cell retinopathy associated with sickle cell trait and gestational diabetes: case report Retinopatia falciforme proliferativa associada a traço falciforme e diabetes gestacional: relato de caso
Jefferson Augusto Santana Ribeiro
Full Text Available Proliferative sickle cell retinopathy is an uncommon complication in individuals with sickle cell trait (AS. However, the risk for proliferative retinopathy development is increased in patients with AS hemoglobinopathy associated with systemic conditions or ocular trauma. A case of a patient with AS hemoglobinopathy who developed proliferative sickle cell retinopathy after the occurrence of gestational diabetes and pregnancy-induced hypertension is reported. Hemoglobin electrophoresis revealed presence of A2 5.0%, S 35.0% and A 53.2%. The present case emphasizes the importance of evaluating systemic comorbidities in patients with sickle cell trait during pregnancy since sickle cell retinopathy can progress rapidly, as well as the importance of regular eye fundus examination in these patients.Retinopatia falciforme proliferativa é uma complicação incomum em indivíduos com traço falciforme, havendo, porém, risco aumentado de desenvolver retinopatia proliferativa em pacientes com hemoglobinopatia AS associada a condições sistêmicas ou trauma ocular. Neste artigo será apresentado um caso de paciente com diabetes gestacional, hipertensão arterial sistêmica associada à gravidez e traço falciforme. Eletroforese de hemoglobinas revelou a presença de A2 5,0%, S 35,0% e A 53,2%. Este caso ressalta a importância da avaliação de comorbidades sistêmicas em pacientes com traço falciforme no período gestacional, uma vez que pode ocorrer rápida progressão da retinopatia falciforme, devendo-se realizar também exames regulares do fundo de olho nestes pacientes.
Wiggins, T.; Bohrer, S.P.
In summary, a 32-year-old black man with homozygous sickle cell anemia has been presented. The patient developed bilateral ulcers of the leg which never completely healed. In one leg he demonstrated a focal, fusiform, periosteal reaction which probably in time would become incorporated into the cortex, resulting in the formation of an ulcer osteoma of the tibia associated with sickle cell disease. The ulcer osteoma has the same radiological appearance as the ulcer osteoma in individuals in Africa without sickle cell disease. (orig./SHA)
Akamaguna, A.I.; Odita, J.C.; Ugbodaga, C.I.; Okafor, L.A.
Measurements of the tibial and fibular angles made on ankle radiographs of 34 patients with sickle cell disease were compared with those of 36 normal Nigerians. Widening of the fibular angle, which is an indication of tibiotalar slant, was demonstrated in about 79% of sickle cell disease patients. By using fibular angle measurements as an objective method of assessing subtle tibiotalar slant, it is concluded that the incidence of this deformity is much higher among sickle cell disease patients than previously reported. The mean values of tibial and fibular angles in normal Nigerians are higher than has been reported amongst Caucasians. (orig.)
Shuey, Kathleen M; Balch, Christine
In the oncology population, disease process and treatment factors place patients at risk for falls. Fall bundles provide a framework for developing comprehensive fall programs in oncology. Small sample size of interventional studies and focus on ambulatory and geriatric populations limit the applicability of results. Additional research is needed. Copyright © 2014 Elsevier Inc. All rights reserved.
A summary is given of five papers and the discussion of a seminar promoted by the newly-formed National Centre of Systems Reliability. The topics covered include hazard analysis, reliability assessment, and risk assessment in both nuclear and non-nuclear industries. (U.K.)
Shishko, Robert; Jorgensen, Edward J.
This paper summarizes work in progress to define and implement a risk management process tailored to a low-cost, high-risk, NASA mission -the Microrover Flight Experiment (MFEX, commonly called the Mars microrover).
Barakat, Lamia P.; Daniel, Lauren C.; Smith, Kelsey; Robinson, M. Renée; Patterson, Chavis A.
Children with sickle cell disease (SCD) are at risk for poor health-related quality of life (HRQOL). The current analysis sought to explore parent problem-solving abilities/skills as a moderator between SCD complications and HRQOL to evaluate applicability to pediatric SCD. At baseline, 83 children ages 6–12 years and their primary caregiver completed measures of the child HRQOL. Primary caregivers also completed a measure of social problem-solving. A SCD complications score was computed from medical record review. Parent problem-solving abilities significantly moderated the association of SCD complications with child self-report psychosocial HRQOL (p = .006). SCD complications had a direct effect on parent proxy physical and psychosocial child HRQOL. Enhancing parent problem-solving abilities may be one approach to improve HRQOL for children with high SCD complications; however, modification of parent perceptions of HRQOL may require direct intervention to improve knowledge and skills involved in disease management. PMID:24222378
Asfaw, Sofya H.; Falk, Gavin A.; Morris-Stiff, Gareth; Tuthill, Ralph J.; Moorman, Matthew L.; Samotowka, Michael A.
Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem org...
Lee, S.; Ayers, S.; Holden, D.
Introduction: Risk perception in women with high risk pregnancies affects their decisions about perinatal care and is of interest to anyone involved in the care of pregnant women. This paper provides a metasynthesis of qualitative studies of risk perception in women with high risk pregnancies.\\ud \\ud Methods: A systematic search of eight electronic databases was conducted. Additional papers were obtained through searching references of identified articles. Six studies were identified that rep...
Background:Sickle cell disease (SCD) is a fatal monogenic disorder with no effective cure and thus high rates of morbidity and sequelae. Efforts toward discovery of disease modifying drugs and curative strategies can be augmented by leveraging the plethora of information contained in available biomedical literature. To facilitate research in this direction we have developed a resource, Dragon Exploration System for Sickle Cell Disease (DESSCD) (http://cbrc.kaust.edu.sa/desscd/) that aims to promote the easy exploration of SCD-related data.Description:The Dragon Exploration System (DES), developed based on text mining and complemented by data mining, processed 419,612 MEDLINE abstracts retrieved from a PubMed query using SCD-related keywords. The processed SCD-related data has been made available via the DESSCD web query interface that enables: a/information retrieval using specified concepts, keywords and phrases, and b/the generation of inferred association networks and hypotheses. The usefulness of the system is demonstrated by: a/reproducing a known scientific fact, the "Sickle_Cell_Anemia-Hydroxyurea" association, and b/generating novel and plausible "Sickle_Cell_Anemia-Hydroxyfasudil" hypothesis. A PCT patent (PCT/US12/55042) has been filed for the latter drug repurposing for SCD treatment.Conclusion:We developed the DESSCD resource dedicated to exploration of text-mined and data-mined information about SCD. No similar SCD-related resource exists. Thus, we anticipate that DESSCD will serve as a valuable tool for physicians and researchers interested in SCD. © 2013 Essack et al.
Ludmila Mourão Xavier Gomes
Full Text Available OBJECTIVE: To evaluate the quality of healthcare provided to sickle cell disease children by primary healthcare services in a region of high prevalence. METHODS: A cross-sectional, descriptive study was performed by interviewing members of families with sickle cell disease children. The children had been identified from the Neonatal Screening Program in Minas Gerais state over the last 12 years in towns of the Montes Claros-Bocaiuva microregion. A structured questionnaire specially developed for this study and based on three axes was used: indicators of the child's health (immunization, growth and development, prophylaxis antibiotic therapy, perception of care by the family (health education and accessibility and knowledge of the family about the disease. RESULTS: Sixty-three of 71 families with children identified as having sickle cell disease were interviewed. The predominant genotypes were Hb SS (44.4% and Hb SC (41.2%. Adequate monitoring of growth and development was recorded for the first year of life in 23 children (36.6% and for the second year of life in 18 children (28.6%. The basic vaccination schedule was completed by 44 children (69.8% but 62 vaccination record cards (98.4% identified delays of special vaccines. Regular use of prophylactic penicillin was reported by 55 caregivers (87.3%. The family's perception of the care provided suggests poor accessibility to health services and lack of opportunities to answer doubts. The average performance of families in knowledge testing was 59.8%. CONCLUSION: The quality of healthcare is unsatisfactory. The care provided to children with sickle cell disease in primary healthcare services needs improvements.
Lidiane de Souza Torres
Full Text Available OBJECTIVE: The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. METHODS: Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. RESULTS: Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001. The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione. Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040 and lower hemoglobin F concentrations(r = -0.52; p = 0.0067. On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111 and positively associated with hemoglobin F values (r = 0.56; p = 0.0031. CONCLUSION: Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals.
Ana Karine Vieira
Full Text Available ABSTRACT Objective: To evaluate pulmonary function and functional capacity in children and adolescents with sickle cell disease. Methods: This was a cross-sectional study involving 70 children and adolescents (8-15 years of age with sickle cell disease who underwent pulmonary function tests (spirometry and functional capacity testing (six-minute walk test. The results of the pulmonary function tests were compared with variables related to the severity of sickle cell disease and history of asthma and of acute chest syndrome. Results: Of the 64 patients who underwent spirometry, 15 (23.4% showed abnormal results: restrictive lung disease, in 8 (12.5%; and obstructive lung disease, in 7 (10.9%. Of the 69 patients who underwent the six-minute walk test, 18 (26.1% showed abnormal results regarding the six-minute walk distance as a percentage of the predicted value for age, and there was a ≥ 3% decrease in SpO2 in 36 patients (52.2%. Abnormal pulmonary function was not significantly associated with any of the other variables studied, except for hypoxemia and restrictive lung disease. Conclusions: In this sample of children and adolescents with sickle cell disease, there was a significant prevalence of abnormal pulmonary function. The high prevalence of respiratory disorders suggests the need for a closer look at the lung function of this population, in childhood and thereafter.
Yossepowitch, Ofer; Eastham, James A
Consensus recommendations for the identification and treatment of men whose apparent organ confined prostate cancer has high risk features are lacking. Despite ongoing refinements in surgical technique and improvements in morbidity and functional outcomes, the tradition of steering high-risk patients away from radical prostatectomy (RP) remains steadfast. We performed a medical literature search in English using MEDLINE/PubMed that addressed high risk prostate cancer. We analyzed the literature with respect to the historical evolution of this concept, current risk stratification schemes and treatment guidelines and related short and long term outcomes following RP. Contemporary evidence suggest that patients classified with high-risk prostate cancer by commonly used definitions do not have a uniformly poor prognosis after RP. Many cancers categorized clinically as high risk are actually pathologically confined to the prostate, and most men with such cancers who undergo RP are alive and free of additional therapy long after surgery. RP in the high-risk setting appears to be associated with a similar morbidity as in lower-risk patients. Men with clinically localized high-risk prostate cancer should not be categorically disqualified from local definitive therapy with RP. With careful attention to surgical technique, cancer control rates should improve further, and adverse effects on quality of life after RP should continue to decrease.
Hawasawi, Zakaria M.; Nabi, G.; Al-Magamci, M.S.F.; Awad, Khalid S.
Sickle cell disease (SCD) is a common disease in Saudi Arabia, with ahigh prevalence in the Eastern and Southern regions. This study reports on 53cases of SCD encountered in the Madina area. In a retrospective study of 6000pediatric patients, 53 children (0.88%) with sickle cell disease wereadmitted in the Maternity and Children's Hospital Madina, between November1990 and October 1991. Of these, 39 patients (73.58%) were Saudis and 14(26.41%) were non-Saudis. Thirty-six patients were homozygous SS and 17 weresickle thalassemic. The main causes of admission were vaso-occlusive crisis(77.35%), infection (67.92%), acute chest syndrome (22.64%), anemia (12.6%)and cerebrovascular accident (9.43%). The lowest and highest age groupsrecorded in this study were six months and 12 years, respectively. About 70%of patients are still being followed-up, and none of the patients has died.This disease is one of the major causes of morbidity in this region of SaudiArabia. Measures required include neonatal screening programs for the earlydetection of the disease as well as research into new drugs to counter thedisease. (author)
Singh, Priya C; Ballas, Samir K
The search for effective therapeutic interventions for sickle cell disease (SCD) has been an ongoing endeavor for over 50 years. During this period, only hydroxyurea (HU), which received US FDA approval in February 1998, was identified as an effective therapeutic agent in preventing or ameliorating the frequency of vaso-occlusive crises, acute chest syndrome and the need for blood transfusion. Approximately 25% of patients with sickle cell anemia (SCA), however, do not respond to HU and some patients experiencing serious side effects of this chemotherapeutic agent. Nevertheless, the success of HU opened the sluice gates to identify other effective drug therapies. The objective of this review is to describe the emerging drug therapies for SCA. In this review, we describe the pathophysiology of SCD and provide an in-depth analysis of the current and new pharmacologic therapies in the field. Literature searches involved multiple databases including Medline In-Process & Other Non-Indexed Citations, MEDLINE, Embase, Cochrane Database of Systematic Reviews, and Scopus. SCA is a heterogeneous disease that has caused tremendous global morbidity and early mortality. More effective, individualized and inexpensive therapies are needed. New therapies targeting multiple pathways in its complex pathophysiology are under investigation.
Lee, Suzanne; Ayers, Susan; Holden, Des
risk perception in women with high risk pregnancies affects their decisions about perinatal care and is of interest to anyone involved in the care of pregnant women. This paper provides a metasynthesis of qualitative studies of risk perception in women with high risk pregnancies. a systematic search of eight electronic databases was conducted. Additional papers were obtained through searching references of identified articles. Six studies were identified that reported qualitative research into risk perception in relation to high risk pregnancy. A metasynthesis was developed to describe and interpret the studies. the synthesis resulted in the identification of five themes: determinants of risk perception; not seeing it the way others do; normality versus risk; if the infant is ok, I׳m ok; managing risk. this metasynthesis suggests women at high risk during pregnancy use multiple sources of information to determine their risk status. It shows women are aware of the risks posed by their pregnancies but do not perceive risk in the same way as healthcare professionals. They will take steps to ensure the health of themselves and their infants but these may not include following all medical recommendations. Copyright © 2013 Elsevier Ltd. All rights reserved.
van Beers, Eduard J.; van Eck-Smit, Berthe L. F.; Mac Gillavry, Melvin R.; van Tuijn, Charlotte F. J.; van Esser, Joost W. J.; Brandjes, Dees P. M.; Kappers-Klunne, Mies C.; Duits, Ashley J.; Biemond, Bart J.; Schnog, John-John B.
Background: Pulmonary hypertension (PHT) occurs in approximately 30% of adult patients with sickle-cell disease (SCD) and is a risk factor for early death. The potential role of pulmonary artery obstruction, whether due to emboli or in situ thrombosis, in the etiology of SCD-related PHT is unknown.
... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More High Blood Pressure, AFib and Your Risk of Stroke Updated:Aug ... have a stroke for the first time have high blood pressure . And an irregular atrial heart rhythm — a condition ...
Ahmed, Shahid; Shahid, Rabia K; Russo, Linda A
Sickle cell disease is characterized by chronic hemolytic anemia and vaso-occlusive painful crises. The vascular occlusion in sickle cell disease is a complex process and accounts for the majority of the clinical manifestation of the disease. Abdominal pain is an important component of vaso-occlusive painful crises. It often represents a substantial diagnostic challenge in this population of patients. These episodes are often attributed to micro-vessel occlusion and infarcts of mesentery and abdominal viscera. Abdominal pain due to sickle cell vaso-occlusive crisis is often indistinguishable from an acute intra-abdominal disease process such as acute cholecystitis, acute pancreatitis, hepatic infarction, ischemic colitis and acute appendicitis. In the majority of cases, however, no specific cause is identified and spontaneous resolution occurs. This chapter will focus on etiologies, pathophysiology and management of abdominal pain in patients with sickle cell disease.
Erectile Dysfunction in patients with Sickle Cell Anaemia. ... leading to an increased haemolysis as well as vaso-occlusive complications including ... bone pain crises, blood transfusion (over a 3 year period) as well as erectile dysfunction.
Huang, A W; Muneyyirci-Delale, O
In patients with sickle cell anemia, the sickling of red blood cells is known to cause end-organ damage by infarction. In some men who are affected by sickle cell anemia, the obstruction of venous outflow of the penis causes priapism, which could lead to erectile dysfunction. There is also evidence that the disease is linked to other reproductive issues in men-specifically delayed puberty, low testosterone, and sperm abnormalities-although the causes of these problems are less clear. Treatment of sickle cell anemia can have effects on the reproductive system as well. This review summarizes the findings from various publications pertaining to reproductive endocrinology, along with their conclusions and discrepancies. © 2017 American Society of Andrology and European Academy of Andrology.
specific alkaline phosphatase (b-AP) total protein levels were evaluated as indicators of bone turnover in twenty patients with sickle cell haemoglobinopathies and in twenty normal healthy individuals. The serum bonespecific alkaline phosphatase ...
Knowledge, attitude and control practices of sickle cell disease among youth corps members ... PROMOTING ACCESS TO AFRICAN RESEARCH ... access to haemopoeitic stem cell transplantation (HSCT) in our environment, stronger efforts ...
... Cell Disease Also called: Hemoglobin SS disease, Sickle cell anemia On this page Basics Summary Start Here Diagnosis ... red blood cells. This is a condition called anemia , and it can make you feel tired. The ...
Children with sickle cell disease who are experiencing psychosocial problems concurrently with their mothers: a Nigerian study. ... you can download the PDF file directly to your computer, from where it can be opened using a PDF reader.
Background: Pregnancy in women with sickle cell anemia is associated with adverse outcome for mother and child, but ... of one amino acid by another, namely valine for glutamic ... improvement in nutritional status and the use of daily folic.
Sep 1, 2015 ... a patient with Sickle Cell Disease (SCD) needs ortho- dontic treatment ... Orthodontic Management. 215. Measures ... under strict control by the Dental Hygienists to avoid ... Ghana. Pediatrics 2008; 121 (suppl 2): 120-121. 2.
Methods. We conducted a cross-sectional case-control study evaluating sexual maturation of male patients with sickle cell anaemia and those .... statistical location were calculated for continuous data and ..... Butterworth's Medical Dictionary.
Alcohol consumption has been associated with high risk sexual behaviour among key populations such as female sex workers. We explored the drivers of alcohol consumption and its relationship to high risk sexual behaviour. Participants were drawn from a cohort of 1 027 women selected from 'hot spots' in the suburbs of ...
Background: The future development of children is considered more than ever now due to the advances in medical knowledge and thus the increase in survival rates of high-risk infants. This study investigated the correlation between high-risk pregnancy and developmental delay in children aged 4- 60 months. Methods: ...
Vangsted, A J; Helm-Petersen, S; Cowland, J B
from high-risk patients by GEP70 at diagnosis from Total Therapy 2 and 3A to predict the response by the DRP score of drugs used in the treatment of myeloma patients. The DRP score stratified patients further. High-risk myeloma with a predicted sensitivity to melphalan by the DRP score had a prolonged...
The objective of this study was to estimate lipid profile among high risk stress bank employees' correlated with heart disorders in Riyadh, Saudi Arabia. A total of 129 patients with high risk stress employees were involved in this study, which were divided into 69 males and 60 females between the age of 25 to 55 years.
Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira Risks and benefits of genetic screening: the sickle cell trait as a model in a Brazilian population group
Roberto Benedito de Paiva e Silva
Full Text Available A triagem populacional de heterozigotos assintomáticos para fins de orientação genética é um procedimento bastante controvertido, por envolver o risco de rotulação, discriminação, estigmatização, perda de auto-estima e invasão de privacidade. Assim sendo, investigou-se no presente trabalho os efeitos da orientação genética fornecida a indivíduos diagnosticados como heterozigotos do gene da hemoglobina S (heterozigotos AS, portadores do traço falciforme durante a triagem de doadores de sangue. Foram convidados por carta 92 doadores AS para receber orientação genética gratuita e individualizada, 66 dos quais (72% aceitaram o convite. Cerca de 50% dos indivíduos trouxeram a parceira e/ou os filhos para investigação laboratorial das hemoglobinopatias, identificando-se assim alguns casais de risco e algumas crianças com anemia hemolítica crônica. Seis meses após o fornecimento da orientação genética, foi possível avaliar por entrevista pessoal ou por carta-questionário 43 doadores AS (65%, constatando-se uma boa assimilação das informações fornecidas. A orientação genética não produziu mudanças significativas na vida da maioria dos indivíduos e os riscos teóricos da orientação genética não aparecem de forma preocupante na casuística examinada. Foram constatados de forma esporádica, no entanto, indícios de estigmatização, rotulação, discriminação, perda da auto-estima e invasão de privacidade.Population screening of asymptomatic heterozygotes for genetic guidance purposes is a very controversial procedure due to the risk of labeling, discrimination, stigmatization, loss of self-esteem, and invasion of privacy. Effects of genetic counseling supplied to blood donors with the sickle cell trait (AS heterozygotes were investigated. Ninety-two AS donors were invited by letter to a free, individual orientation session; 66 of them (72% accepted the invitation. Some 50% of the individuals brought their
Smith, Kelsey E.; Schatz, Jeffrey
Children with sickle cell disease (SCD) are at risk for working memory deficits due to multiple disease processes. We assessed working memory abilities and related functions in 32 school-age children with SCD and 85 matched comparison children using Baddeley’s working memory model as a framework. Children with SCD performed worse than controls for working memory, central executive function, and processing/rehearsal speed. Central executive function was found to mediate the relationship betwee...
This book contains over 30 selections. Some of the titles are: An Animal Model for Sickle Cell Vaso-Occlusion: A Study Using NMR and Technetium Imaging; Sickle-Cell Vaso-Occlusion in an Animal Model: Intravital Microscopy and Radionuclide Imaging of Selective Sequestration of Dense Cells; Magnetic Resonance Imaging, Percentage of Dense Cells, and Serum Prostanoids as Tools for Objective Assessment of Pain Crisis: A Preliminary Report; and Painful Crisis and Dense Echinocytes: Effects of Hydration and Vasodilators
The reliability of sickling and solubility tests and peripheral blood film method for sickle cell disease screening at district health centers in Uganda. ... Les 200 prélèvements des enfants ages de 6 mois à 5 ans ont été analysés de façon indépendante en utilisant la méthode des analyses d'hématies falciformes, la solubilité et ...
Mueck, Krislynn M; Kao, Lillian S
Surgical site infections (SSIs) are a significant healthcare quality issue, resulting in increased morbidity, disability, length of stay, resource utilization, and costs. Identification of high-risk patients may improve pre-operative counseling, inform resource utilization, and allow modifications in peri-operative management to optimize outcomes. Review of the pertinent English-language literature. High-risk surgical patients may be identified on the basis of individual risk factors or combinations of factors. In particular, statistical models and risk calculators may be useful in predicting infectious risks, both in general and for SSIs. These models differ in the number of variables; inclusion of pre-operative, intra-operative, or post-operative variables; ease of calculation; and specificity for particular procedures. Furthermore, the models differ in their accuracy in stratifying risk. Biomarkers may be a promising way to identify patients at high risk of infectious complications. Although multiple strategies exist for identifying surgical patients at high risk for SSIs, no one strategy is superior for all patients. Further efforts are necessary to determine if risk stratification in combination with risk modification can reduce SSIs in these patient populations.
Beal, Eliza W; Black, Sylvester M; Mumtaz, Khalid; Hayes, Don; El-Hinnawi, Ashraf; Washburn, Kenneth; Tumin, Dmitry
High-risk donor allografts increase access to liver transplant, but potentially reduce patient and graft survival. It is unclear whether the risk associated with using marginal donor livers is mitigated by increasing center experience. The United Network for Organ Sharing registry was queried for adult first-time liver transplant recipients between 2/2002 and 12/2015. High donor risk was defined as donor risk index >1.9, and 1-year patient and graft survival were compared according to donor risk index in small and large centers. Multivariable Cox regression estimated the hazard ratio (HR) associated with using high-risk donor organs, according to a continuous measure of annual center volume. The analysis included 51,770 patients. In 67 small and 67 large centers, high donor risk index predicted increased mortality (p = 0.001). In multivariable analysis, high-donor risk index allografts predicted greater mortality hazard at centers performing 20 liver transplants per year (HR 1.35; 95% CI 1.22, 1.49; p donor risk index and center volume was not statistically significant (p = 0.747), confirming that the risk associated with using marginal donor livers was comparable between smaller and larger centers. Results were consistent when examining graft loss. At both small and large centers, high-risk donor allografts were associated with reduced patient and graft survival after liver transplant. Specific strategies to mitigate the risk of liver transplant involving high-risk donors are needed, in addition to accumulation of center expertise.
Wright, Josh; Ahmedzai, Sam H
Until recently management of sickle pain was the province of haematologists. However, a recent National Confidential Enquiry into Patient Outcome and Death report highlighted problems with the management of pain and opioid analgesia in this group and suggested a multiagency approach similar to that used in palliative care. Pain is the most frequent complication of this haemoglobin disorder. Sickle cell disease is very variable with many patients leading full lives with long periods with little or no pain. At the other end of the spectrum there are those who exist in a sea of pain. The mechanisms of sickle pain are poorly understood and evidence for the best treatment modalities sparse. Historically there has been a dearth of clinical trials in sickle cell; however, this is starting to be addressed. In this review we will give a brief overview of the disease and its pathogenesis before examining the epidemiology, management of pain in sickle cell disease. We will also review recent evidence regarding quality of life and discuss the role of opioid hyperalgesia in sickle cell disease.
Lubega, Irene; Ndugwa, Christopher M; Mworozi, Edison A; Tumwine, James K
Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients. A cross sectional study was carried out on patients with sickle cell anaemia in Kampala. Dried blood spots were used to analyze for the deletional α+ thalassaemia using multiplex polymerase chain reaction. Of the 142 patients with sickle cell anaemia, 110 (77.5%) had the αα+thalassaemia deletion. The gene frequency of (-α) was 0.425. Ninety one percent (100/110) of those with α+thalassaemia were heterozygous (αα/α-). Amongst the patients older than 60 months, 15 (83.3%) of those without αα+thalassaemia had significant hepatomegaly of greater than 4 cm compared to 36 (45.6%) of those with α+thalassaemia (p=0.003). The gene frequency of (-α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital.
Kurantsin-Mills, J.; Jacobs, H.M.; Lessin, L.S.
Sickle cell disease is clinically characterized with vaso-occlusive painful crisis which is pleomorphic in terms of frequency of occurrence. The intracellular polymerization of deoxygenated hemoglobin S increases the internal viscosity of the sickle cells exponentially, concurrent with binding of hemoglobin S to the membrane and discocyte-drepanocyte transformation. As a result, the red cells in sickle cell disease are heterogenous with cells of varying density and mean corpuscular hemoglobin concentration which alter the rheological features of the blood in the microcirculation. The cellular, physiological, biochemical and rheological factors that contribute to the vaso-occlusive events are not completely understood. Nonetheless, recent clinical studies have demonstrated that a certain fraction of the dense cells disappear during sickle cell painful crisis. In an attempt to elucidate some of the cellular and rheological factors involved in the initiation of vaso-occlusion, the authors have employed intravital videomicroscopy and radionuclide imaging of indium-III labeled sickle cells to determine the dynamics and sites of vaso-occlusion using the rat exchanged-transfused with sickle (HbSS) erythrocytes as a model
Worrall, Douglas; Smith-Whitley, Kim; Wells, Lawrence
Femoral head osteonecrosis (ON) secondary to sickle cell disease (SCD) often progresses to femoral head collapse, requiring total hip arthroplasty. However, this treatment has a limited durability and patients with SCD have higher rates of complications, requiring multiple revision operations. Identifying risk factors linked to ON in SCD can facilitate earlier precollapse diagnosis and surgical treatment aimed at preservation of the native hip joint. Fifty-nine children treated at our institution between January 2001 and April 2012 with SCD and ON, as diagnosed by magnetic resonance imaging or radiographic imaging, were compared with age-matched and sickle cell phenotype-matched (SS, SC, Sβ, Sβ) controls with no evidence of ON. Two sided t-tests assuming unequal variances determined statistically risk factors and threshold values were assigned to calculate odds ratios. Systolic blood pressure (P=1.2×10, OR=3.68), diastolic blood pressure (P=0.0084, OR=1.41), weight in the SCD-SS population (P=0.04, OR=1.85), and hemoglobin (Hb) in the SCD-SS population (P=0.036, OR=2.56) were elevated in cases. Curiously, dividing the Hb by the hematocrit to serve as a clinical proxy for the mean corpuscular Hb concentration (MCHC) produced an excellent predictor of ON (P=2.06×10, OR=5.17), which was especially pronounced in the SCD-SS subpopulation (P=2.28×10, OR=8.65). Among children with SCD, the overall prevalence of ON was 9% (59/658) and the phenotype with the highest prevalence of ON was Sβ thalassemia with an ON prevalence of 11.1%. There was no observed correlation between ON and height, body mass index, cholesterol, mean corpuscular volume, hematocrit, or glucocorticoid use. These data support a novel clinical marker, the MCHC proxy, as the strongest predictor of ON in children with SCD. High-risk children should receive hip magnetic resonance imaging to diagnose early ON and facilitate interventions focused on hip preservation, forestalling, or possibly preventing
Downes, Michelle; de Haan, Michelle; Kirkham, Fenella J; Telfer, Paul T
Snoring and poor sleep may affect cognition, particularly in young children with chronic conditions. Parents of London preschoolers with sickle cell anemia (SCA; n = 22), matched controls (n = 24), and unselected typically developing (n = 142) preschoolers completed sleep questionnaires. Preschoolers with SCA had significantly more sleep problems when compared to matched controls and the larger population. Snoring occurred at least one to two nights a week for 79% of the SCA group. This is compared with 25% of matched controls and 33% of larger population. Randomized controlled trials to improve sleep in young children with SCA already at-risk for cognitive dysfunction should be considered. © 2016 Wiley Periodicals, Inc.
, in patients with sickle cell disease (SCD). There is general lack of appreciation by clinicians, of the sub-optimal or frankly harmful effects, of inappropriate transfusion in SCD. This article discusses the relevant pathophysiology of sickle cell ...
Survey of Medicinal Plants Used in the Management of Sickle Cell Disease by Traditional ... The main method of preparation is by decoction and in most cases, the ... Keywords: Ethnobotany, Sickle Cell Disease, Traditional Medicine, Gbonyin ...
New concepts in sickle cell anemia. ... Abstract. Current knowledge on the pathophysiology of sickle cell anemia is reviewed and potential therapeutic options are reviewed and ... Clinics in Mother and Child Health Vol. ... HOW TO USE AJOL.
Full Text Available Background Patients with sickle cell disease suffer from various complications during their lifetime. In order to cope with the disease, they must adapt themselves to a complex set of behaviors that promote self-management and prevent complications associated with the disease. Chronic disease self-management programs are a combination of strategies that increase self-efficacy and promote self-management behaviors. Objectives This study aimed to determine the effectiveness of self-management programs on self-efficacy in patients with sickle cell disease. Patients and Methods In this quasi-experimental study, 69 patients with sickle cell disease who were referred to the Thalassemia Clinic of Ahvaz Shafa Hospital were entered into the study through the census method. Then, the self-management program was implemented using the 5A method for 12 weeks. The Levels of pre and post intervention self-efficacy were assessed using the sickle cell self-efficacy scale (SCSES, while descriptive statistics, paired t-test and Wilcoxon test were used to analyze the data. Results Before the intervention, the majority of subjects (50.7% had moderate self-efficacy, whereas after the intervention, the majority of patients (81.2% showed high self-efficacy. The overall scores and scores of the post-intervention self-efficacy sub-groups were significantly increased (P < 0.001. Conclusions The results of this study showed that self-management interventions are effective in promoting self-efficacy in patients with sickle cell disease. Thus, the use of self-management programs is advisable to change behaviors and promote self-efficacy in such patients.
Full Text Available Cardiovascular disease (CVD risk factors, such as diabetes, hypertension, hypercholesterolemia, smoking, and obesity tend to occur together in the general population. Increasing prevalence of multiple CVD risk factors has been related to increased risk of death from coronary heart disease and stroke. Studies have suggested that people with several risk factors of CVD may have impaired health-related quality of life. The objective of this study was to assess the association of CVD risk factors with quality of life (QOL among adults aged 40 to 65 years. A cross-sectional study was conducted involving 220 subjects 40 - 65 years of age at a health center. The CVD risk factors were assessed using the Framingham risk score that is the standard instrument for assessment of the risk of a first cardiac event. The risk factors assessed were age, smoking, blood pressure, total cholesterol and high density lipoprotein cholesterol concentrations. QOL was assessed by means of the WHOQOL-BREF instrument that had been prevalidated. The results of the study showed that 28.2% of subjects were smokers, 56.4% had stage 1 hypertension, 42.8% high total cholesterol and 13.6% low HDL cholesterol. The high risk group amounted to 45.5% and 42.3% constitued an intermediate risk group. High CVD risk scores were significantly associated with a low QOL for all domains (physical, psychological, social and environment (p=0.000. Preventing or reducing the multiple CVD risk factors to improve QOL is necessary among adults.
Mano, Roy; Eastham, James; Yossepowitch, Ofer
Background Treatment of high-risk prostate cancer has evolved considerably over the past two decades, yet patients with very high-risk features may still experience poor outcome despite aggressive therapy. We review the contemporary literature focusing on current definitions, role of modern imaging and treatment alternatives in very high-risk prostate cancer. Methods We searched the MEDLINE database for all clinical trials or practice guidelines published in English between 2000 – 2016 with the following search terms: ‘prostatic neoplasms’ (MeSH Terms) AND (‘high risk’ (keyword) OR ‘locally advanced’ (keyword) OR ‘node positive’ (keyword)). Abstracts pertaining to very high-risk prostate cancer were evaluated and 40 pertinent studies served as the basis for this review. Results The term ‘very’ high-risk prostate cancer remains ill defined. The EAU and NCCN guidelines provide the only available definitions, categorizing those with clinical stage T3-4 or minimal nodal involvement as very-high risk irrespective of PSA level or biopsy Gleason score. Modern imaging with mpMRI and PET-PSMA scans plays a role in pretreatment assessment. Local definitive therapy by external beam radiation combined with androgen deprivation is supported by several randomized clinical trials whereas the role of surgery in the very high-risk setting combined with adjuvant radiation/ androgen deprivation therapy is emerging. Growing evidence suggest neoadjuvant taxane based chemotherapy in the context of a multimodal approach may be beneficial. Conclusions Men with very high-risk tumors may benefit from local definitive treatment in the setting of a multimodal regimen, offering local control and possibly cure in well selected patients. Further studies are necessary to better characterize the ‘very’ high-risk category and determine the optimal therapy for the individual patient. PMID:27618950
Full Text Available A linkage between presence of Sickle Haemoglobin (HbS and protection from malaria infection and clinical manifestations in certain areas was suspected from early observations and progressively elucidated by more recent studies. Research has confirmed the abovementioned connection, but also clarified how such protection may be abolished by coexistence of sickle cell trait (HbS trait and alpha thalassemia, which may explain the relatively low incidence of HbS trait in the Mediterranean. The mechanisms of such protective effect are now being investigated: factors of genetic, molecular and immunological nature are prominent. As for genetic factors attention is given to the role of the red blood cell (RBC membrane complement regulatory proteins as polymorphisms of these components seem to be associated with resistance to severe malaria; genetic ligands like the Duffy group blood antigen, necessary for erythrocytic invasion, and human protein CD36, a major receptor for P. falciparum-infected RBC‘s, are also under scrutiny: attention is focused also on plasmodium erythrocyte-binding antigens, which bind to RBC surface components. Genome-wide linkage and association studies are now carried out too, in order to identify genes associated with malaria resistance. Only a minor role is attributed to intravascular sickling, phagocytosis and haemolysis, while specific molecular mechanisms are the object of intensive research: among these a decisive role is played by a biochemical sequence, involving activation of haeme oxygenase (HMO-1, whose effect appears mediated by carbon monoxide (CO. A central role in protection from malaria is also played by immunological factors, which may stimulate antibody production to plasmodium antigens in the early years of life; the role of agents like pathogenic CD8 T-cells has been suggested while the effects of molecular actions on the immunity mechanism are presently investigated. It thus appears that protection from
Atwood, Carlyn M; Gnagi, Sharon H; Teufel, Ronald J; Nguyen, Shaun A; White, David R
Tonsillectomy is the second most common surgery in children with sickle cell disease. These children are at an increased risk of perioperative complications due to vaso-occlusive events. Although controversial, preoperative blood transfusions are sometimes given in an effort to prevent such complications. The purpose of this study is to analyze trends in the use of blood transfusion for management of children with sickle cell disease (SCD) undergoing tonsillectomy in a national database. Patients in the 1997-2012 KID with a primary procedure matching the ICD-9 procedure code for tonsillectomy (28.2-28.3) and diagnosis code for SCD (282.60-282.69) were examined. Patients were split into groups by blood transfusion status and compared across variables including complication rate, length of stay (LOS), and hospital charges. Statistical analysis included chi-square test for trend, Mann-Whitney U test, and independent t-test. 1133 patients with SCD underwent tonsillectomy. There was a strong positive correlation between increasing chronologic year and the proportion of patients receiving blood transfusions, 47 (30.1%) in 1997 to 78 (42.5%) in 2012 (r = 0.94, p = 0.005). During this period, there was no significant change in the rate of complications (r = -0.1, p = 0.87). Overall, patients receiving blood transfusion had a longer mean LOS (3.1 ± 2.4 days vs. 2.5 ± 2.2 days, p blood transfusion. The rate of complications in the transfusion group, 18 of 352(5.1%), was not significantly different (p = 0.48) from the group without transfusion, 40 of 626 (6.4%). From 1997 to 2012, there was a significant increase in the proportion of patients with SCD receiving perioperative blood transfusions for tonsillectomy. While the frequency of transfusion rose, those who received a transfusion had similar complication rates with increased charges and length of hospital stays compared to those who did not receive a transfusion. Copyright © 2017 Elsevier B.V. All
John Ayodele Olaniyi
Multidisciplinary approach was applied to her management and she was finally discharged home on a wheelchair. This case reflects not only the high susceptibility of SCD patients to infection, but also the morbidity and the attendant complications. It also highlights the need to forestall vaso-occlusive crisis (VOC which often predisposes them to developing osteomyelitis. There is a need to have a highly organized, well-equipped and highly subsidized Sickle Cell and rehabilitation Center in order to further improve the care of SCD patients.
F. Moreira Neto
Full Text Available Sickle cell disease (SCD is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden, the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women, 29 with SS (sickle cell anemia; 28 years, range: 13-52 years and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8% and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8% and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease, a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.
Full Text Available Recurrent tuberculosis (TB continues to be a significant problem and is an important indicator of the effectiveness of TB control. Recurrence can occur by relapse or exogenous reinfection. Recurrence of TB is still a major problem in high-burden countries, where there is lack of resources and no special attention is being given to this issue. The rate of recurrence is highly variable and has been estimated to range from 4.9% to 47%. This variability is related to differences in regional epidemiology of recurrence and differences in the definitions used by the TB control programs. In addition to treatment failure from noncompliance, there are several key host factors that are associated with high rates of recurrence. The widely recognized host factors independent of treatment program that predispose to TB recurrence include gender differences, malnutrition; comorbidities such as diabetes, renal failure, and systemic diseases, especially immunosuppressive states such as human immunodeficiency virus; substance abuse; and environmental exposures such as silicosis. With improved understanding of the human genome, proteome, and metabolome, additional host-specific factors that predispose to recurrence are being identified. Information on temporal and geographical trends of TB cases as well as studies with whole-genome sequencing might provide further information to enable us to fully understand TB recurrence and discriminate between reactivation and new infection. The recently launched World Health Organization End TB Strategy emphasizes the importance of integrated, patient-centered TB care. Continued improvement in diagnosis, treatment approaches, and an understanding of host-specific factors are needed to fully understand the clinical epidemiological and social determinants of TB recurrence.
Mirsaeidi, Mehdi; Sadikot, Ruxana T
Recurrent tuberculosis (TB) continues to be a significant problem and is an important indicator of the effectiveness of TB control. Recurrence can occur by relapse or exogenous reinfection. Recurrence of TB is still a major problem in high-burden countries, where there is lack of resources and no special attention is being given to this issue. The rate of recurrence is highly variable and has been estimated to range from 4.9% to 47%. This variability is related to differences in regional epidemiology of recurrence and differences in the definitions used by the TB control programs. In addition to treatment failure from noncompliance, there are several key host factors that are associated with high rates of recurrence. The widely recognized host factors independent of treatment program that predispose to TB recurrence include gender differences, malnutrition; comorbidities such as diabetes, renal failure, and systemic diseases, especially immunosuppressive states such as human immunodeficiency virus; substance abuse; and environmental exposures such as silicosis. With improved understanding of the human genome, proteome, and metabolome, additional host-specific factors that predispose to recurrence are being identified. Information on temporal and geographical trends of TB cases as well as studies with whole-genome sequencing might provide further information to enable us to fully understand TB recurrence and discriminate between reactivation and new infection. The recently launched World Health Organization End TB Strategy emphasizes the importance of integrated, patient-centered TB care. Continued improvement in diagnosis, treatment approaches, and an understanding of host-specific factors are needed to fully understand the clinical epidemiological and social determinants of TB recurrence.
Thomsen, Louise T; Frederiksen, Kirsten; Munk, Christian
OBJECTIVE: To determine the absolute risk of cervical intraepithelial neoplasia (CIN) grade 3 or cervical cancer (CIN 3 or worse) after detection of low-risk human papillomavirus (HPV) and after a negative high-risk HPV test. METHODS: In this prospective cohort study, consecutive liquid......-based cervical cytology samples were collected from women screened for cervical cancer in Copenhagen, Denmark, during 2002-2005. Samples were tested with a clinical test for 13 high-risk and five low-risk HPV types. The cohort (N=35,539; aged 14-90 years) was monitored in a nationwide pathology register for up...... cytology. Detection of low-risk HPV does not predict CIN 3 or worse. Cervical cancer screening should not include testing for low-risk HPV types. LEVEL OF EVIDENCE: II....
Ireland has seen a steady increase in paediatric sickle cell disease (SCD). In 2005, only 25% of children with SCD were referred to the haemoglobinopathy service in their first year. A non-funded screening programme was implemented. This review aimed to assess the impact screening has had. All children referred to the haemoglobinopathy service born in Ireland after 2005 were identified. Data was collected from the medical chart and laboratory system. Information was analysed using Microsoft Excel. 77 children with SCD were identified. The median age at antibiotic commencement in the screened group was 56 days compared with 447 days in the unscreened group, p = < 0.0003. 22 (28%) of infants were born in centre\\'s that do not screen and 17 (81%) were over 6 months old at referral, compared with 14 (21%) in the screened group. 6 (27%) of those in the unscreened group presented in acute crisis compared with 2 (3%) in the screened population. The point prevalence of SCD in Ireland is 0.2% in children under 15 yr of African and Asian descent. We identified delays in referral and treatment, which reflect the lack of government funded support and policy. We suggest all maternity units commence screening for newborns at risk of SCD. It is a cost effective intervention with a number needed to screen of just 4 to prevent a potentially fatal crisis.
Mohammad Reza Iravani
Full Text Available Teenagers are believed the people who are supposed to build the world's future. High-risk behaviors such as addiction to drugs, smoking cigarettes, sex, etc. could significantly hurts teenagers and there must be some supporting programs to reduce these issues as much as possible. This paper performs an empirical investigation to study the different factors influencing high- risk behavior among teenagers who live in a city of Esfahan, Iran. The proposed study designs a questionnaire and distribute between two groups of female and male teenagers. The results indicate that while there is a meaningful relationship between high-risk behaviors and average high school marks among male students there is no meaningful relationship between high-risk behaviors and high school grades among female students. The results also indicate that there is a meaningful difference between gender and high-risk behavior. The season of birth for female and male students is another important factor for having high-risk behaviors. While the order of birth plays an important role among male students, the order of birth is not an important factor among female teenagers. Finally, the results indicate that teenagers' parental financial affordability plays a vital role on both female and male teenagers.
Kim, Yusung; Tome, Wolfgang A.
Background and Purpose: A tumor subvolume-based, risk-adaptive optimization strategy is presented. Methods and Materials: Risk-adaptive optimization employs a biologic objective function instead of an objective function based on physical dose constraints. Using this biologic objective function, tumor control probability (TCP) is maximized for different tumor risk regions while at the same time minimizing normal tissue complication probability (NTCP) for organs at risk. The feasibility of risk-adaptive optimization was investigated for a variety of tumor subvolume geometries, risk-levels, and slopes of the TCP curve. Furthermore, the impact of a correlation parameter, δ, between TCP and NTCP on risk-adaptive optimization was investigated. Results: Employing risk-adaptive optimization, it is possible in a prostate cancer model to increase the equivalent uniform dose (EUD) by up to 35.4 Gy in tumor subvolumes having the highest risk classification without increasing predicted normal tissue complications in organs at risk. For all tumor subvolume geometries investigated, we found that the EUD to high-risk tumor subvolumes could be increased significantly without increasing normal tissue complications above those expected from a treatment plan aiming for uniform dose coverage of the planning target volume. We furthermore found that the tumor subvolume with the highest risk classification had the largest influence on the design of the risk-adaptive dose distribution. The parameter δ had little effect on risk-adaptive optimization. However, the clinical parameters D 5 and γ 5 that represent the risk classification of tumor subvolumes had the largest impact on risk-adaptive optimization. Conclusions: On the whole, risk-adaptive optimization yields heterogeneous dose distributions that match the risk level distribution of different subvolumes within the tumor volume
Mariane de Montalembert
Full Text Available The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS. In patients with sickle cell anemia (SCA, iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*8 ECs in the past year, and age older than 6 years. We included from 9 centers 20 patients with thalassemia, 41 with SCA, and 25 with MDS in 2012-2014. Erythrocytapharesis did not consistently prevent iron overload in patients with SCA. Cardiac iron overload was found in 3 (15% patients with thalassemia, none with SCA, and 4 (16% with MDS. The liver iron content (LIC ranged from 10.4 to 15.2 mg/g dry weight, with no significant differences across groups (P = 0.29. Abnormal T2* was not significantly associated with any of the measures of transfusion or chelation. Ferritin levels showed a strong association with LIC. Non-transferrin-bound iron was high in the thalassemia and MDS groups but low in the SCA group (P<0.001. Hepcidin was low in thalassemia, normal in SCA, and markedly elevated in MDS (P<0.001. Two mechanisms may explain that iron deposition largely spares the heart in SCA: the high level of erythropoiesis recycles the iron and the chronic inflammation retains iron within the macrophages. Thalassemia, in contrast, is characterized by inefficient erythropoiesis, unable to handle free iron. Iron accumulation varies widely in MDS syndromes due to the competing influences of abnormal erythropoiesis, excess iron supply, and inflammation.
determine the factors associated with high risk for obstructive sleep apnoea and use it to identify patients at risk for the condition in ... mainstay of management is CPAP in addition to behavioral ..... the present study has some potential limitations which ... consequences of obstructive sleep apnea and short sleep duration.
MetS) in high-risk individuals attending 30 internal medicine clinics in Amman, Jordan, and also to evaluate the various factors associated with increased risk of MetS among them. Methods: This retrospective cross-sectional study was carried out ...
Østergaard, Lauge; Valeur, Nana; Ihlemann, Nikolaj
Aims: Patients with prior infective endocarditis (IE), a prosthetic heart valve, or a cyanotic congenital heart disease (CHD) are considered to be at high risk of IE by guidelines. However, knowledge is sparse on the relative risk of IE between these three groups and compared controls. Methods...
Full Text Available Purpose : Recent retrospective data suggest that brachytherapy (BT boost may confer a cancer-specific survival benefit in radiation-managed high-risk prostate cancer. We sought to determine whether this survival benefit would extend to the recently defined favorable high-risk subgroup of prostate cancer patients (T1c, Gleason 4 + 4 = 8, PSA 20 ng/ml. Material and methods: We identified 45,078 patients in the Surveillance, Epidemiology, and End Results database with cT1c-T3aN0M0 intermediate- to high-risk prostate cancer diagnosed 2004-2011 treated with external beam radiation therapy (EBRT only or EBRT plus BT. We used multivariable competing risks regression to determine differences in the rate of prostate cancer-specific mortality (PCSM after EBRT + BT or EBRT alone in patients with intermediate-risk, favorable high-risk, or other high-risk disease after adjusting for demographic and clinical factors. Results : EBRT + BT was not associated with an improvement in 5-year PCSM compared to EBRT alone among patients with favorable high-risk disease (1.6% vs. 1.8%; adjusted hazard ratio [AHR]: 0.56; 95% confidence interval [CI]: 0.21-1.52, p = 0.258, and intermediate-risk disease (0.8% vs. 1.0%, AHR: 0.83, 95% CI: 0.59-1.16, p = 0.270. Others with high-risk disease had significantly lower 5-year PCSM when treated with EBRT + BT compared with EBRT alone (3.9% vs. 5.3%; AHR: 0.73; 95% CI: 0.55-0.95; p = 0.022. Conclusions : Brachytherapy boost is associated with a decreased rate of PCSM in some men with high-risk prostate cancer but not among patients with favorable high-risk disease. Our results suggest that the recently-defined “favorable high-risk” category may be used to personalize therapy for men with high-risk disease.
Paguntalan, John C; Gregoski, Mathew
Worksite wellness programs offer an ideal setting to target high-risk sedentary workers to improve health status. Lack of physical activity is associated with increased risk for coronary heart disease and mortality. Despite the risks, the number of sedentary workers is increasing. This study examined the perceived barriers and motivators for physical activity among employees at high-risk for coronary heart disease. A purposive sample of 24 high-risk workers participating in a wellness program in rural South Carolina were enrolled in the study. Qualitative data was obtained through semi-structured face-to-face interviews. Grounded theory was used to analyze qualitative data, and identify overarching themes. Physical limitations due to pain and weakness, lack of motivation, and lack of time emerged as the main barriers to physical activity. Family relationships were reported as the strongest motivator along with social support and potential health benefits. Findings highlight the unique experience of high-risk workers with physical activity. The findingsunderscore the need to design and implement effective interventions specifically designed to meet the needs of high-risk employees.
Sangho, Hamadoun; Keïta, Haoua Dembélé; Keïta, Assan Sidibé; Diarra, Fatoumata Y; Belemou, Boureyma; Dia, Amadou; Traoré, Mahamadou; Keïta, Fatoumata Danfaga; Diarra, Assa; Diakité, Baye; Diallo, Dapa; Sidibé, Toumani
The sickle cell disease constitutes a major problem of public health. We find 5% to 20% of carriers of this disease in West Africa and 40% among some populations in central Africa (Congo, Zaire) and Nigeria (Beguè). In Mali prevalence is estimated to 12% with 3% for the homozygote form. It is a known disease and well documented on the scientific plan and its management is better and better codified nowadays, which contributes to the improvement of life quality. For this reason, Centre for Research and Documentation on Child Survival (CREDOS) lead this study. The aim was to assess the knowledge of the mothers for a best management of sickle cell disease in the households. We conducted a cross-sectional study with single passage realized in the households in 6 communes of Bamako district. We inquired 360 parents of children less than 5 years, according to the method of cluster sampling. The study found that 95.8% of mothers know the sickle cell disease. In addition 63.9% of the mothers didn't know the complications of the sickle cell disease and 58% the causes. In the event of discovered sickle cell disease, 58.3% of the mothers stated to want to resort to a medical structure in first intention, 18.3% with self medication and 13.9% with the traditional practitioner. In front of a sickle cell disease crisis, 56% stated to have recourse to modern medicine against 15.2% with the traditional practitioner. Household's implication in the management of the child sickle cell disease suffers a low knowledge of cause, clinical signs, and complications of this disease by the parents. For a better knowledge of this pathology by the families, information and education of the populations through messages BCC are necessary.
U.S. Department of Health & Human Services — 1991-2015. High School Dataset. The Youth Risk Behavior Surveillance System (YRBSS) monitors six categories of priority health behaviors among youth and young...
... Services Directory Cancer Prevention Overview Research Chemicals in Meat Cooked at High Temperatures and Cancer Risk On ... hydrocarbons, and how are they formed in cooked meats? What factors influence the formation of HCA and ...
Svetoslav Nanev Slavov
Full Text Available Human parvovirus B19 is a well-known cause of severe conditions in patients with sickle cell disease, but the molecular mechanisms of the infection are insufficiently understood. The different clinical outcome of the acute parvovirus B19 infection in two pediatric patients with sickle cell disease has been examined. One of them developed life-threatening condition requiring emergency transfusions, while the other had asymptomatic infection, diagnosed occasionally. Both cases had high viral load and identical subgenotype, indicating that the viral molecular characteristics play a minimal role in the infection outcome.
Svetoslav Nanev Slavov
Full Text Available Human parvovirus B19 is a well-known cause of severe conditions in patients with sickle cell disease, but the molecular mechanisms of the infection are insufficiently understood. The different clinical outcome of the acute parvovirus B19 infection in two pediatric patients with sickle cell disease has been examined. One of them developed life-threatening condition requiring emergency transfusions, while the other had asymptomatic infection, diagnosed occasionally. Both cases had high viral load and identical subgenotype, indicating that the viral molecular characteristics play a minimal role in the infection outcome.
M Guszkowska; A Bołdak
The study examined sensation seeking intensity level in males involved in recreational high risk sports and investigated whether its level depends on type of sport practised. Additionally, in case of parachutists, sport experience of study participants were scrutinised with regard to its possible impact on the level of sensation seeking.The research involved 217 males aged 17 to 45, practising recreational high risk sports, namely: parachuting (n=98); wakeboarding (n=30); snowboarding (n=30);...
Miele, Catherine H.; Schwartz, Alan R.; Gilman, Robert H.; Pham, Luu; Wise, Robert A.; Davila-Roman, Victor G.; Jun, Jonathan C.; Polotsky, Vsevolod Y.; Miranda, J. Jaime; Leon-Velarde, Fabiola; Checkley, William
Miele, Catherine H., Alan R. Schwartz, Robert H. Gilman, Luu Pham, Robert A. Wise, Victor G. Davila-Roman, Jonathan C. Jun, Vsevolod Y. Polotsky, J. Jaime Miranda, Fabiola Leon-Velarde, and William Checkley. Increased cardiometabolic risk and worsening hypoxemia at high altitude. High Alt Med Biol. 17:93���100, 2016.���Metabolic syndrome, insulin resistance, diabetes, and dyslipidemia are associated with an increased risk of cardiovascular disease. While excessive erythrocytosis is associated...
Stonelake, Stephen; Thomson, Peter; Suggett, Nigel
National guidance states that all patients having emergency surgery should have a mortality risk assessment calculated on admission so that the 'high risk' patient can receive the appropriate seniority and level of care. We aimed to assess if peri-operative risk scoring tools could accurately calculate mortality and morbidity risk. Mortality risk scores for 86 consecutive emergency laparotomies, were calculated using pre-operative (ASA, Lee index) and post-operative (POSSUM, P-POSSUM and CR-POSSUM) risk calculation tools. Morbidity risk scores were calculated using the POSSUM predicted morbidity and compared against actual morbidity according to the Clavien-Dindo classification. The actual mortality was 10.5%. The average predicted risk scores for all laparotomies were: ASA 26.5%, Lee Index 2.5%, POSSUM 29.5%, P-POSSUM 18.5%, CR-POSSUM 10.5%. Complications occurred following 67 laparotomies (78%). The majority (51%) of complications were classified as Clavien-Dindo grade 2-3 (non-life-threatening). Patients having a POSSUM morbidity risk of greater than 50% developed significantly more life-threatening complications (CD 4-5) compared with those who predicted less than or equal to 50% morbidity risk (P = 0.01). Pre-operative risk stratification remains a challenge because the Lee Index under-predicts and ASA over-predicts mortality risk. Post-operative risk scoring using the CR-POSSUM is more accurate and we suggest can be used to identify patients who require intensive care post-operatively. In the absence of accurate risk scoring tools that can be used on admission to hospital it is not possible to reliably audit the achievement of national standards of care for the 'high-risk' patient.
Kaplan, David J.; Boorjian, Stephen A.; Ruth, Karen; Egleston, Brian L.; Chen, David Y.T.; Viterbo, Rosalia; Uzzo, Robert G.; Buyyounouski, Mark K.; Raysor, Susan; Giri, Veda N.
Introduction Clinical factors in addition to PSA have been evaluated to improve risk assessment for prostate cancer. The Prostate Cancer Prevention Trial (PCPT) risk calculator provides an assessment of prostate cancer risk based on age, PSA, race, prior biopsy, and family history. This study evaluated the risk calculator in a screening cohort of young, racially diverse, high-risk men with a low baseline PSA enrolled in the Prostate Cancer Risk Assessment Program. Patients and Methods Eligibility for PRAP include men ages 35-69 who are African-American, have a family history of prostate cancer, or have a known BRCA1/2 mutation. PCPT risk scores were determined for PRAP participants, and were compared to observed prostate cancer rates. Results 624 participants were evaluated, including 382 (61.2%) African-American men and 375 (60%) men with a family history of prostate cancer. Median age was 49.0 years (range 34.0-69.0), and median PSA was 0.9 (range 0.1-27.2). PCPT risk score correlated with prostate cancer diagnosis, as the median baseline risk score in patients diagnosed with prostate cancer was 31.3%, versus 14.2% in patients not diagnosed with prostate cancer (p<0.0001). The PCPT calculator similarly stratified the risk of diagnosis of Gleason score ≥7 disease, as the median risk score was 36.2% in patients diagnosed with Gleason ≥7 prostate cancer versus 15.2% in all other participants (p<0.0001). Conclusion PCPT risk calculator score was found to stratify prostate cancer risk in a cohort of young, primarily African-American men with a low baseline PSA. These results support further evaluation of this predictive tool for prostate cancer risk assessment in high-risk men. PMID:19709072
DE Marzo, Vincenzo; D'Amario, Domenico; Galli, Mattia; Vergallo, Rocco; Porto, Italo
Before the percutaneous spread, the mortality rate of patients with coronary heart disease not suitable for cardiac surgery was markedly high. This limit has been progressively exceeded with the advent of minimally invasive approaches, which, although was initially intended exclusively for low risk patients, was then employed in complex patients often too compromised to undergo cardiac surgery. Given to the rising of high-risk population, due to an increase of patients with multiple chronic conditions linked to the best care offered, we are witnessing an expansion of the high-risk percutaneous coronary interventions (PCI) population. Despite defining what high-risk is remains still unclear, all proposed definitions of high-risk PCI combine features related to three clinical areas: 1) patient risk factors and comorbidities (incorporating those which preclude surgical or percutaneous revascularization such as diabetes, COPD, CKD, lung disease, frailty, advanced age); 2) location of the disease and complexity of coronary anatomy (including multi-vessel disease, left main disease, CTO, bifurcations); 3) hemodynamic clinical status (ventricular dysfunction, concomitant valvular disease or unstable characteristics). Since cardiologists have ascertained the encouraging results in terms of efficacy and rewards compared to the low-risks patients, the important role of treating high-risk patients is becoming more and more relevant to the point that current guidelines have now changed the appropriateness of percutaneous interventions indications. Considering the complexity in managing higher-risk patients with coronary artery disease, the next step to ensure the best care for this type of patients is to create a team-based model of cooperation in order to properly establish the right treatment for the right patient.
Woodard, E.D.; Hempelmann, L.H.; Janus, J.; Logan, W.; Dean, P.
A unique cohort of women at increased risk of breast cancer because of prior X-ray treatment of acute mastitis and their selected high-risk siblings were offered periodic breast cancer screening including physical examination of the breasts, mammography, and thermography. Twelve breast cancers were detected when fewer than four would have been expected based on age-specific breast cancer detection rates from the National Cancer institute/American Cancer Society Breast Cancer Demonstration Detection Projects. Mammograpy was positive in all cases but physical examination was positive in only three cases. Thermography was an unreliable indicator of disease. Given the concern over radiation-induced risk, use of low-dose technique and of criteria for participation that select women at high risk of breast cancer will maximize the benefit/risk ratio for mammography screening
Passos, Susane Müller Klug; Souza, Luciano Dias de Mattos; Spessato, Bárbara Coiro
A cross-sectional study was developed to evaluate suicide risk and associated factors in HIV/AIDS patients at a regional reference center for the treatment of HIV/AIDS in southern Brazil. We assessed 211 patients in regard to suicide risk, clinical and sociodemographic characteristics, drug use, depression, and anxiety. Suicide risk was assessed with Mini International Neuropsychiatric Interview, Module C. Multivariate analysis was performed using Poisson regression. Of the total sample, 34.1% were at risk of suicide. In the multivariate analysis, the following variables were independently associated with suicide risk: female gender; age up to 47 years; unemployment; indicative of anxiety; indicative of depression; and abuse or addiction on psychoactive substances. Suicide risk is high in this population. Psychosocial factors should be included in the physical and clinical evaluation, given their strong association with suicide risk.
Full Text Available In this article, we summarise research that identifies best practice for communicating about hazards where the risk is low but public concern is high. We apply Peter Sandman’s ‘risk = hazard + outrage’ formulation to these risks, and review factors associated with the amplification of risk signals. We discuss the structures that determine the success of risk communication strategies, such as the capacity for early communication to ‘capture’ the dominant representation of risk issues, the importance of communicating uncertainty, and the usefulness of engaging with communities. We argue that, when facing trade-offs in probable outcomes from communication, it is always best to choose strategies that maintain or build trust, even at the cost of initial overreactions. We discuss these features of successful risk communication in relation to a range of specific examples, particularly opposition to community water fluoridation, Ebola, and routine childhood immunisation.
Ormseth, Sarah R; Wellisch, David K; Aréchiga, Adam E; Draper, Taylor L
The research about follow-up patterns of women attending high-risk breast-cancer clinics is sparse. This study sought to profile daughters of breast-cancer patients who are likely to return versus those unlikely to return for follow-up care in a high-risk clinic. Our investigation included 131 patients attending the UCLA Revlon Breast Center High Risk Clinic. Predictor variables included age, computed breast-cancer risk, participants' perceived personal risk, clinically significant depressive symptomatology (CES-D score ≥ 16), current level of anxiety (State-Trait Anxiety Inventory), and survival status of participants' mothers (survived or passed away from breast cancer). A greater likelihood of reattendance was associated with older age (adjusted odds ratio [AOR] = 1.07, p = 0.004), computed breast-cancer risk (AOR = 1.10, p = 0.017), absence of depressive symptomatology (AOR = 0.25, p = 0.009), past psychiatric diagnosis (AOR = 3.14, p = 0.029), and maternal loss to breast cancer (AOR = 2.59, p = 0.034). Also, an interaction was found between mother's survival and perceived risk (p = 0.019), such that reattendance was associated with higher perceived risk among participants whose mothers survived (AOR = 1.04, p = 0.002), but not those whose mothers died (AOR = 0.99, p = 0.685). Furthermore, a nonlinear inverted "U" relationship was observed between state anxiety and reattendance (p = 0.037); participants with moderate anxiety were more likely to reattend than those with low or high anxiety levels. Demographic, medical, and psychosocial factors were found to be independently associated with reattendance to a high-risk breast-cancer clinic. Explication of the profiles of women who may or may not reattend may serve to inform the development and implementation of interventions to increase the likelihood of follow-up care.
Full Text Available HPV is classified into high-risk and low-risk types depending on its probability of leading to tumorigenesis. Many studies have shown that HPV infection, especially the infection caused by the high-risk type, is always related to prostate cancer, bladder cancer, penile cancer, testicular cancer, and other urinary system tumors. However, previous studies differed in sexual openness and racial genetic susceptibility of the study object, sample size, and experimental methods. Hence, the correlation between high-risk HPV infection and urinary system tumors remains controversial. The early open reading frame of the HPV genome is composed of E1–E7, among which E6 and E7 are the key transfer proteins. The combination of these proteins with oncogene and anti-oncogene may be one of the mechanisms leading to tumorigenesis.
Mukisi, M M; Bashoun, K; Burny, F
Osteonecrosis of the femoral head (ONFH) is a frequent complication of sickle-cell disease. Numerous studies have demonstrated increased intraosseous pressure (IOP) in idiopathic necrosis and necrosis secondary to corticotherapy or alcohol poisoning. Several reports have testified to the clinical interest of decompression by drilling which, when performed in the early course of the pathology, can arrest or slow evolution. To the best of our knowledge, no studies have reported IOP increase in sickle-cell ONFH. The present study sought to show that intraosseous hyperpressure plays a role in the physiopathology of sickle-cell, like idiopathic, ONFH. Sixteen intraosseous pressure (IOP) measurements were taken: eight in adult sickle-cell disease patients, four in sickle-cell trait carrying ONFH patients (AS) and four in non-sickle-cell ONFH patients (AA). Arterial blood-pressure equipment with bone-puncture needle was used to measure IOP in the great trochanter body. Three IOP measurements were made after zero calibration: before drilling (direct pressure: IOP-1), after hyperpressure test but before drilling (IOP-2), and after drilling (IOP-3). The present, admittedly short, series displayed elevated predrilling IOP-1 and IOP-2, reduced after drilling (IOP-3). Abnormal IOP fell after drilling performed for evolutive symptomatic ONFH. Significant differences in IOP-1 and IOP-2 were found, these being higher in the "sickle-cell disease" and "sickle-cell trait carriers" groups (pintraosseous hyperpressure is the cause of the pain and of the onset and evolution of ONFH. The drilling tunnel acts as a safety valve, achieving real decompression of the segment involved and immediate postoperative reduction in or disappearance of pain. Measuring pressure is of diagnostic interest in sickle-cell disease patients with symptomatic hips. Manometry can be performed independently of surgery, under local anesthesia, and provides early confirmation of ONFH in geographic regions in which
Yoon, Hyuk; Kim, Nayoung
Gastric cancer is associated with high morbidity and mortality worldwide. To reduce the socioeconomic burden related to gastric cancer, it is very important to identify and manage high risk group for gastric cancer. In this review, we describe the general risk factors for gastric cancer and define high risk group for gastric cancer. We discuss strategies for the effective management of patients for the prevention and early detection of gastric cancer. Atrophic gastritis (AG) and intestinal metaplasia (IM) are the most significant risk factors for gastric cancer. Therefore, the accurate selection of individuals with AG and IM may be a key strategy for the prevention and/or early detection of gastric cancer. Although endoscopic evaluation using enhanced technologies such as narrow band imaging-magnification, the serum pepsinogen test, Helicobacter pylori serology, and trefoil factor 3 have been evaluated, a gold standard method to accurately select individuals with AG and IM has not emerged. In terms of managing patients at high risk of gastric cancer, it remains uncertain whether H. pylori eradication reverses and/or prevents the progression of AG and IM. Although endoscopic surveillance in high risk patients is expected to be beneficial, further prospective studies in large populations are needed to determine the optimal surveillance interval. PMID:25547086
Behan, James W; Sutton, Adam; Wysong, Ashley
Skin cancer is the most common of human cancers and outnumbers all other types of cancer combined in the USA by over threefold. The majority of non-melanoma skin cancers are easily treated with surgery or locally destructive techniques performed under local anesthesia in the cost-effective outpatient setting. However, there is a subset of "high-risk" cases that prove challenging in terms of morbidity, mortality, adjuvant treatment required, as well as overall cost to the health care system. In our opinion, the term "high risk" when applied to skin cancer can mean one of three things: a high-risk tumor with aggressive histologic and/or clinical features with an elevated risk for local recurrence or regional/distant metastasis, a high-risk patient with the ongoing development of multiple skin cancers, and a high-risk patient based on immunosuppression. We have recently proposed classifying NMSC as a chronic disease in a certain subset of patients. Although no consensus definition exists for a chronic disease in medicine, there are three components that are present in most definitions: duration of at least 1 year, need for ongoing medical care, and functional impairment and/or alteration of activities of daily living (ADLs) and quality of life (QOL). Immunosuppression can refer to exogenous (organ or stem cell transplant patients,) or endogenous (HIV, leukemia, lymphoma, genodermatoses with DNA mismatch repair problems or other immunosuppression) causes. These patients are at risk for high-risk tumors and/or the development of multiple tumors.
Ranbir S. Balgir, PhD;
Full Text Available Background: Sickle cell disease is a major genetic and public health challenge in India. Adequate studies on clinico-hematological aspects of disorders are available, however there are few studies on the public health and reproductive outcomes among sickle cell carrier couples. Methods: A total of 383 couples including their offspring with at least one case of sickle cell disorder referred to a testing center from a tertiary hospital from March 2010 to February 2013 were consecutively studied as matched case controls. Results: Out of 383 couples, 200 were found normal and 183 had different sickle cell disorders. Carrier couples of sickle cell disease had significantly higher fertility (mean number of conceptions, i.e. 3.153 versus 1.480 and higher below 10 year mortality (11% versus 2.7% and lower surviving offspring (877.4 versus 970.6 than of controls. Neonatal and infant mortality was doubled (34.3 versus 14.7 and three-fold higher (44.1 versus 14.7, respectively in carriers of disease per 1000 live-births compared to controls. Couples of AS/SS genotype showed high neonatal, infant, below 10 year mortality (214.3 each and low surviving offspring (785.7 per 1000 live-births. Conclusions and Global Health Implications: Sickle cell carrier couples are increasing in both trait and disease offspring (surviving: 56.7% against 43.3% normals. This increased production of carrier and disease offspring leads to increased morbidity, neonatal/infant and childhood mortality, and adversely affects the survival fitness.
Zhang, Yujin; Dai, Yingbo; Wen, Jiaming; Zhang, Weiru; Grenz, Almut; Sun, Hong; Tao, Lijian; Lu, Guangxiu; Alexander, Danny C; Milburn, Michael V; Carter-Dawson, Louvenia; Lewis, Dorothy E; Zhang, Wenzheng; Eltzschig, Holger K; Kellems, Rodney E; Blackburn, Michael R; Juneja, Harinder S; Xia, Yang
Hypoxia can act as an initial trigger to induce erythrocyte sickling and eventual end organ damage in sickle cell disease (SCD). Many factors and metabolites are altered in response to hypoxia and may contribute to the pathogenesis of the disease. Using metabolomic profiling, we found that the steady-state concentration of adenosine in the blood was elevated in a transgenic mouse model of SCD. Adenosine concentrations were similarly elevated in the blood of humans with SCD. Increased adenosine levels promoted sickling, hemolysis and damage to multiple tissues in SCD transgenic mice and promoted sickling of human erythrocytes. Using biochemical, genetic and pharmacological approaches, we showed that adenosine A2B receptor (A2BR)-mediated induction of 2,3-diphosphoglycerate, an erythrocyte-specific metabolite that decreases the oxygen binding affinity of hemoglobin, underlies the induction of erythrocyte sickling by excess adenosine both in cultured human red blood cells and in SCD transgenic mice. Thus, excessive adenosine signaling through the A2BR has a pathological role in SCD. These findings may provide new therapeutic possibilities for this disease. PMID:21170046
Kilgus, Stephen P.; Taylor, Crystal N.; von der Embse, Nathaniel P.
The purpose of this study was to support the identification of Social, Academic, and Emotional Behavior Risk Screener (SAEBRS) cut scores that could be used to detect high-risk students. Teachers rated students across two time points (Time 1 n = 1,242 students; Time 2 n = 704) using the SAEBRS and the Behavioral and Emotional Screening System…
Ploeg, E. van der
The risk of high-risk jobs: Psychological health consequences in forensic doctors and ambulance workers This thesis has shown that forensic physicians and ambulance personnel frequently suffer from psychological complaints as a result of dramatic events and sources of chronic work stress. A
Koudstaal, M.; van Wijnbergen, S.
This paper deals with the relation between excessive risk taking and capital structure in banks. Examining a quarterly dataset of U.S. banks between 1993 and 2010, we find that equity is valued higher when more risky portfolios are chosen when leverage is high, and that more risk taking has a
Castanier, Carole; Le Scanff, Christine; Woodman, Tim
We investigated the risk-taking behaviors of 302 men involved in high-risk sports (downhill skiing, mountaineering, rock climbing, paragliding, or skydiving). The sportsmen were classified using a typological approach to personality based on eight personality types, which were constructed from combinations of neuroticism, extraversion, and…
Conclusions: In the absence of accurate risk scoring tools that can be used on admission to hospital it is not possible to reliably audit the achievement of national standards of care for the ‘high-risk’ patient.
Yiend, Jenny; Freestone, Mark; Vazquez-Montes, Maria; Holland, Josephine; Burns, Tom
High-risk mentally disordered offenders present a diverse array of clinical characteristics. To contain and effectively treat this heterogeneous population requires a full understanding of the group's clinical profile. This study aimed to identify and validate clusters of clinically coherent profiles within one high-risk mentally disordered population in the UK. Latent class analysis (a statistical technique to identify clustering of variance from a set of categorical variables) was applied to 174 cases using clinical diagnostic information to identify the most parsimonious model of best fit. Validity analyses were performed. Three identified classes were a 'delinquent' group (n = 119) characterised by poor educational history, strong criminal careers and high recidivism risk; a 'primary psychopathy' group (n = 38) characterised by good educational profiles and homicide offences and an 'expressive psychopathy' group (n = 17) presenting the lowest risk and characterised by more special educational needs and sexual offences. Individuals classed as high-risk mentally disordered offenders can be loosely segregated into three discrete subtypes: 'delinquent', 'psychopathic' or 'expressive psychopathic', respectively. These groups represent different levels of risk to society and reflect differing treatment needs.
Asfaw, Sofya H; Falk, Gavin A; Morris-Stiff, Gareth; Tuthill, Ralph J; Moorman, Matthew L; Samotowka, Michael A
Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem organ failure necessitating a splenectomy, subtotal colectomy, and small bowel resection. This case highlights the diagnostic dilemma that abdominal pain can present in the sickle-cell population and illustrates the importance of recognizing the potential for traditionally medically managed illnesses to become surgical emergencies.
Sofya H. Asfaw
Full Text Available Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem organ failure necessitating a splenectomy, subtotal colectomy, and small bowel resection. This case highlights the diagnostic dilemma that abdominal pain can present in the sickle-cell population and illustrates the importance of recognizing the potential for traditionally medically managed illnesses to become surgical emergencies.
Padmanabhan, Jaya L; Shah, Jai L; Tandon, Neeraj; Keshavan, Matcheri S
Young relatives of individuals with schizophrenia (i.e. youth at familial high-risk, FHR) are at increased risk of developing psychotic disorders, and show higher rates of psychiatric symptoms, cognitive and neurobiological abnormalities than non-relatives. It is not known whether overall exposure to environmental risk factors increases risk of conversion to psychosis in FHR subjects. Subjects consisted of a pilot longitudinal sample of 83 young FHR subjects. As a proof of principle, we examined whether an aggregate score of exposure to environmental risk factors, which we term a 'polyenviromic risk score' (PERS), could predict conversion to psychosis. The PERS combines known environmental risk factors including cannabis use, urbanicity, season of birth, paternal age, obstetric and perinatal complications, and various types of childhood adversity, each weighted by its odds ratio for association with psychosis in the literature. A higher PERS was significantly associated with conversion to psychosis in young, familial high-risk subjects (OR=1.97, p=0.009). A model combining the PERS and clinical predictors had a sensitivity of 27% and specificity of 96%. An aggregate index of environmental risk may help predict conversion to psychosis in FHR subjects. Copyright © 2016 Elsevier B.V. All rights reserved.
Khatib, Rana; Sarnaik, Sharada A.; Rabah, Raja
In early life, patients with sickle cell disease (SCD) can have acute, life-threatening emergencies related to splenic hypofunction (overwhelming bacterial sepsis), as well as anemic crises from acute splenic sequestration because of sudden pooling of blood in the spleen. The landmark penicillin prophylaxis study in 1985 showed a remarkable decrease in mortality from sepsis in young children with SCD who were treated with oral penicillin prophylaxis compared to placebo. Since that study, newborns are screened for SCD and placed on oral penicillin prophylaxis in nearly all of the United States, as well as in other countries where the disease is highly prevalent. The previously described permanent, complete and nearly universal ''autosplenectomy'' emerging by late childhood or early adulthood is now challenged by recent findings of reversibility of splenic dysfunction by the antisickling drug hydroxyurea or by successful allogeneic stem cell transplantation, even in older patients. Imaging techniques for hypofunction of the spleen are the most commonly used modalities to guide the clinician in decisions regarding medical or surgical management. (orig.)
Schwartz, Lisa A.; Radcliffe, Jerilynn; Barakat, Lamia P.
Background Despite high rates of school absenteeism in adolescents with sickle cell disease (SCD), the issue remains understudied. Potential associates of school absenteeism in adolescents with SCD include demographic (age, income), psychosocial (IQ, self-efficacy, competence, internalizing symptoms, negative thinking), and health-related (hemoglobin, health-care utilization, pain, disease knowledge). Procedure Forty participants ages 12–18 completed measures of psychosocial functioning, IQ, and pain. Medical chart reviews identified other health-related variables. A subsample also completed an assessment of goals. Using school records, absenteeism was the percent of school days missed in the previous year. Correlations tested associates of absenteeism and linear regression tested a model of absenteeism. Results Participants missed an average of 12% of the school year and more than 35% missed at least 1 month of school. Health-related and psychosocial variables, but not demographic variables, correlated with absenteeism. Attendance at clinic appointments and parent-reported teen pain frequency were significant associates of absenteeism in the regression model. For those who completed goal assessment, over 40% of goals identified were academically focused. Absenteeism was positively related to current academic goals and health-related hindrance of academic goals, and negatively related to future-oriented academic goals. Conclusions School absenteeism is a significant problem for adolescents with SCD despite the presence of academic goals. Collaboration between schools, parents, patients, and providers to understand and manage the impact of SCD on school attendance is recommended. PMID:19006248
Khatib, Rana; Sarnaik, Sharada A. [Wayne State University School of Medicine, Children' s Hospital of Michigan, Carmen and Ann Adams Department of Pediatrics, Detroit, MI (United States); Rabah, Raja [Wayne State University School of Medicine, Department of Pathology, Detroit, MI (United States)
In early life, patients with sickle cell disease (SCD) can have acute, life-threatening emergencies related to splenic hypofunction (overwhelming bacterial sepsis), as well as anemic crises from acute splenic sequestration because of sudden pooling of blood in the spleen. The landmark penicillin prophylaxis study in 1985 showed a remarkable decrease in mortality from sepsis in young children with SCD who were treated with oral penicillin prophylaxis compared to placebo. Since that study, newborns are screened for SCD and placed on oral penicillin prophylaxis in nearly all of the United States, as well as in other countries where the disease is highly prevalent. The previously described permanent, complete and nearly universal ''autosplenectomy'' emerging by late childhood or early adulthood is now challenged by recent findings of reversibility of splenic dysfunction by the antisickling drug hydroxyurea or by successful allogeneic stem cell transplantation, even in older patients. Imaging techniques for hypofunction of the spleen are the most commonly used modalities to guide the clinician in decisions regarding medical or surgical management. (orig.)
Background Patients at higher than average risk of heritable cancer may process risk information differently than the general population. However, little is known about clinical, demographic, or psychosocial predictors that may impact risk perception in these groups. The objective of this study was to characterize factors associated with perceived risk of developing cancer in groups at high risk for cancer based on genetics or family history. Methods We searched Ovid MEDLINE, Ovid Embase, Ovid PsycInfo, and Scopus from inception through April 2009 for English-language, original investigations in humans using core concepts of "risk" and "cancer." We abstracted key information and then further restricted articles dealing with perceived risk of developing cancer due to inherited risk. Results Of 1028 titles identified, 53 articles met our criteria. Most (92%) used an observational design and focused on women (70%) with a family history of or contemplating genetic testing for breast cancer. Of the 53 studies, 36 focused on patients who had not had genetic testing for cancer risk, 17 included studies of patients who had undergone genetic testing for cancer risk. Family history of cancer, previous prophylactic tests and treatments, and younger age were associated with cancer risk perception. In addition, beliefs about the preventability and severity of cancer, personality factors such as "monitoring" personality, the ability to process numerical information, as well as distress/worry also were associated with cancer risk perception. Few studies addressed non-breast cancer or risk perception in specific demographic groups (e.g. elderly or minority groups) and few employed theory-driven analytic strategies to decipher interrelationships of factors. Conclusions Several factors influence cancer risk perception in patients at elevated risk for cancer. The science of characterizing and improving risk perception in cancer for high risk groups, although evolving, is still
Tilburt Jon C
Full Text Available Abstract Background Patients at higher than average risk of heritable cancer may process risk information differently than the general population. However, little is known about clinical, demographic, or psychosocial predictors that may impact risk perception in these groups. The objective of this study was to characterize factors associated with perceived risk of developing cancer in groups at high risk for cancer based on genetics or family history. Methods We searched Ovid MEDLINE, Ovid Embase, Ovid PsycInfo, and Scopus from inception through April 2009 for English-language, original investigations in humans using core concepts of "risk" and "cancer." We abstracted key information and then further restricted articles dealing with perceived risk of developing cancer due to inherited risk. Results Of 1028 titles identified, 53 articles met our criteria. Most (92% used an observational design and focused on women (70% with a family history of or contemplating genetic testing for breast cancer. Of the 53 studies, 36 focused on patients who had not had genetic testing for cancer risk, 17 included studies of patients who had undergone genetic testing for cancer risk. Family history of cancer, previous prophylactic tests and treatments, and younger age were associated with cancer risk perception. In addition, beliefs about the preventability and severity of cancer, personality factors such as "monitoring" personality, the ability to process numerical information, as well as distress/worry also were associated with cancer risk perception. Few studies addressed non-breast cancer or risk perception in specific demographic groups (e.g. elderly or minority groups and few employed theory-driven analytic strategies to decipher interrelationships of factors. Conclusions Several factors influence cancer risk perception in patients at elevated risk for cancer. The science of characterizing and improving risk perception in cancer for high risk groups, although
Full Text Available Abstract Background Men who have sex with men (MSM have become a high-risk group of HIV infection in China. To date, little is known regarding the behavioral, social and psychological characteristics in Chinese MSM, which makes the implementation of preventive and therapeutic strategies for this high-risk subpopulation of people extremely difficult. Methods A total of 714 questionnaires were retrieved from the database of a Chinese government-sponsored National Key Research Project titled "Risk Analysis and Strategic Prevention of HIV Transmission from MSM to the General Population in China". The respondents were categorized into a high-risk group and a control group. Their behavioral, social and psychological characteristics were comparatively analyzed. Results Of the 714 MSM analyzed, 59 (8.26% had high-risk homosexual behaviors. This sub-group of MSM had a higher in-marriage rate, a higher monthly income, heavier alcohol consumption and more serious problems with sexual abuse in childhood, intentional suicide attempts and mistaken assumption on condom's role in protecting HIV infection, as compared with the control group (P P > 0.05. A vast majority of the individuals in both behavior categories expressed support of legally protected gay clubs as well as gay marriage legislation in China. There was a strong correlation between high-risk behaviors and sexual abuse in childhood, alcohol drinking, income level and a mistaken belief in perfect HIV protection through the use of condoms. Conclusions MSM with and without high-risk homosexual behaviors have different social and psychological characteristics, which should be taken into account when implementing behavioral and therapeutic interventions aimed at preventing HIV/AIDS transmission among MSM as well as from MSM to the general population in China.
Peifer, Martin; Hertwig, Falk; Roels, Frederik; Dreidax, Daniel; Gartlgruber, Moritz; Menon, Roopika; Krämer, Andrea; Roncaioli, Justin L.; Sand, Frederik; Heuckmann, Johannes M.; Ikram, Fakhera; Schmidt, Rene; Ackermann, Sandra; Engesser, Anne; Kahlert, Yvonne; Vogel, Wenzel; Altmüller, Janine; Nürnberg, Peter; Thierry-Mieg, Jean; Thierry-Mieg, Danielle; Mariappan, Aruljothi; Heynck, Stefanie; Mariotti, Erika; Henrich, Kai-Oliver; Glöckner, Christian; Bosco, Graziella; Leuschner, Ivo; Schweiger, Michal R.; Savelyeva, Larissa; Watkins, Simon C.; Shao, Chunxuan; Bell, Emma; Höfer, Thomas; Achter, Viktor; Lang, Ulrich; Theissen, Jessica; Volland, Ruth; Saadati, Maral; Eggert, Angelika; de Wilde, Bram; Berthold, Frank; Peng, Zhiyu; Zhao, Chen; Shi, Leming; Ortmann, Monika; Büttner, Reinhard; Perner, Sven; Hero, Barbara; Schramm, Alexander; Schulte, Johannes H.; Herrmann, Carl; O’Sullivan, Roderick J.; Westermann, Frank; Thomas, Roman K.; Fischer, Matthias
Neuroblastoma is a malignant paediatric tumour of the sympathetic nervous system1. Roughly half of these tumours regress spontaneously or are cured by limited therapy. By contrast, high-risk neuroblastomas have an unfavourable clinical course despite intensive multimodal treatment, and their molecular basis has remained largely elusive2–4. Here we have performed whole-genome sequencing of 56 neuroblastomas (high-risk, n = 39; low-risk, n = 17) and discovered recurrent genomic rearrangements affecting a chromosomal region at 5p15.33 proximal of the telomerase reverse transcriptase gene (TERT). These rearrangements occurred only in high-risk neuroblastomas (12/39, 31%) in a mutually exclusive fashion with MYCN amplifications and ATRX mutations, which are known genetic events in this tumour type1,2,5. In an extended case series (n = 217), TERT rearrangements defined a subgroup of high-risk tumours with particularly poor outcome. Despite a large structural diversity of these rearrangements, they all induced massive transcriptional upregulation of TERT. In the remaining high-risk tumours, TERT expression was also elevated in MYCN-amplified tumours, whereas alternative lengthening of telomeres was present in neuroblastomas without TERT or MYCN alterations, suggesting that telomere lengthening represents a central mechanism defining this subtype. The 5p15.33 rearrangements juxtapose the TERT coding sequence to strong enhancer elements, resulting in massive chromatin remodelling and DNA methylation of the affected region. Supporting a functional role of TERT, neuroblastoma cell lines bearing rearrangements or amplified MYCN exhibited both upregulated TERT expression and enzymatic telomerase activity. In summary, our findings show that remodelling of the genomic context abrogates transcriptional silencing of TERT in high-risk neuroblastoma and places telomerase activation in the centre of transformation in a large fraction of these tumours. PMID:26466568
Alvis-Miranda Hernando Raphael
Full Text Available The increased density in the basal cisterns and the subarachnoid space on CT scans is a well-known characteristic of subarachnoid hemorrhage. Have been described diverse conditions that can emulate subarachnoid hemorrhage, such as purulent leptomeningitis, intrathecal contrast material and leak of high doses of intravenous contrast material to the subarachnoid space. We present the case of a male patient who presented a subdural hematoma in the setting of non-diagnosed sickle cell disease. To this patient was performed a panangiography which discard any aneurismal hemorrhage origin
Quinn, Charles T
Sickle cell disease (SCD) is a monogenic, yet highly phenotypically variable disease with multisystem pathology. This manuscript provides an overview of many of the known determinants, modifiers, and correlates of disease severity in SCD. Despite this wealth of data, modeling the variable and multisystem pathology of SCD continues to be difficult. The current status of prediction of specific adverse outcomes and global disease severity in SCD is also reviewed, highlighting recent successes and ongoing challenges. © 2016 by the Society for Experimental Biology and Medicine.
Ikefuna Anthony N
Full Text Available Abstract Background Urinary tract infection (UTI is a common cause of childhood morbidity and mortality in the tropics. Children with sickle cell anemia (SCA may have compromised kidney function arising from repeated vaso-occlusive episodes and recurrent symptomatic or asymptomatic UTI. Objectives This study aims at determining the prevalence of asymptomatic bacteriuria and sensitivity pattern in children with homozygous sickle haemoglobin compared to children with normal haemoglobin. Methods One hundred children with SCA in stable state and 100 children with normal haemoglobin aged 2-12 years were screened for asymptomatic bacteriuria using midstream urine samples. The samples were incubated aerobically at 37°C for 24 hours within one hour of collection. Children whose urine samples yielded significant bacteriuria (≥105cfu/ml on two consecutive cultures were regarded as having asymptomatic bacteriuria. Results Asymptomatic bacteriuria was noted in 6% of children with SCA and occurred more in females than males (F: M = 5:1 when compared to 2% in children with normal haemoglobin. Escherichia coli was the commonest organism isolated (33.3%. All the organisms were resistant to co-trimoxazole and ampicillin while most were sensitive to gentamicin, ceftriaxone and the quinolones. Conclusion The risk of asymptomatic bacteriuria is three times more common in children with sickle cell anemia than in children with normal haemoglobin. It is therefore important to screen SCA patients, especially the females for UTI and should be treated according to the sensitivity result of the cultured organisms.
Wun, Ted; Hassell, Kathryn
The β-globin gene mutation in sickle cell anemia results in anemia and repeated bouts of vascular occlusion. The cumulative effect of these vasocclusive events is progressive damage to many organs including the kidneys, lungs, and brain. The transfusion of red blood cells (RBC) can ameliorate many of these complications, but can be associated with both acute and chronic complications, including iron overload. The objective of the Best Practices in Transfusion Medicine for Patients with Sickle Cell Disease (SCD) Conference was to review the available published evidence and clinical experience surrounding the use of RBC transfusions for sickle cell disease by a panel of experts. The expert panel developed explicit clinical guidelines for the use of RBC in SCD patients. The panel also made recommendations for further research. A set of guidelines were produced for dissemination to pertinent stakeholders. If implemented, these clinical pathways have the potential to optimize the use of red blood cell transfusions in SCD.
Antoine, Magdalene; Lee, Ketty; Donald, Tyhiesia; Belfon, Yonni; Drigo, Ali; Polson, Sharon; Martin, Francis; Mitchell, George; Etienne-Julan, Maryse; Hardy-Dessources, Marie-Dominique
Objective To establish the birth prevalence of sickle cell disease in Grenada, with a view to assess the requirement for a population-based neonatal screening programme. Methods A two-year pilot neonatal screening programme, involving the Ministry of Health of Grenada, the Sickle Cell Association of Grenada, and the diagnostic laboratory of hemoglobinopathies of the University Hospital of Guadeloupe, was implemented in 2014-2015 under the auspices of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. Results Analysis of 1914 samples processed identified the following abnormal phenotypes: 10 FS, 2 FSC, 183 FAS, 63 FAC. These data indicate β s and β c allele frequencies of 0.054 and 0.018, respectively. Conclusion Neonatal screening conducted in the framework of this Caribbean cooperation can allow rapid detection and earlier management of affected children.
Ghafouri, Roya H; Lee, Irene; Freitag, Suzanne K; Pira, Tony N
This is a case of a 2-year-old boy with sickle cell disease who presented with bilateral eyelid swelling, limited extraocular motility, and lateral subperiosteal fluid collection associated with bilateral lateral orbital wall infarctions on MRI. The patient was managed medically with intravenous fluids, analgesics, broad-spectrum antibiotics, systemic steroids, and clinically improved. Patients with sickle cell disease are susceptible to infarction of the orbital bones during vaso-occlusive crises. Orbital wall infarction can lead to acute proptosis and restricted extraocular motility. Orbital wall infarction should be considered in sickle cell patients with orbital diseases so that appropriate treatment can be instituted promptly to prevent the serious sequelae of orbital compression syndrome.
Wilson, Emily; Kezeor, Kelly; Crosby, Monica
It is important to isolate autologous red blood cells (RBCs) from transfused RBCs in samples from recently transfused patients to ensure that accurate serologic results are obtained. Typically, this isolation can be performed using methods that separate patient reticulocytes from transfused, older donor RBCs. Patients with sickle cell disease (SCD), however, characteristically have RBCs with altered membrane and morphological features, causing their RBCs to take on a sickle-shape appearance different from the biconcave disc-shape appearance of "normal" RBCs. These characteristics enable the use of hypotonic saline solution to lyse normal RBCs while allowing "sickle cells" to remain intact. Because many patients with SCD undergo frequent transfusions to treat their condition, the use of hypotonic saline solution provides a rapid method to obtain autologous RBCs for serologic testing from this patient population using standard laboratory equipment and supplies.
Mitchell, Bruce L.
Sickle cell trait continues to be the leading cause of sudden death for young African Americans in military basic training and civilian organized sports. The syndrome may have caused the death of up to 10 college football players since 1974 and, as recently as 2000, was suspected as the cause of death of three U.S. Army recruits. The penal military-style boot camps in the United States and the recent death of two teenagers with sickle cell trait merits renewed vigor in the education of athletic instructors, the military and the public about conditions associated with sudden death in individuals with sickle cell trait. Images Figure 1 Figure 2 PMID:17393956
Marlow, T.J.; Brunson, C.Y.; Jackson, S.; Schabel, S.I.
Background. Skeletal abnormalities are common in sickle cell anemia. Ischemia, infarction, and growth disturbance of the thoracic and lumbar vertebral bodies are among the most common abnormalities, and can suggest the diagnosis radiographically. Design and patients. We recently encountered two adult patients in whom vertebrae had grown abnormally in height adjacent to infarcted short vertebrae. We then reviewed the thoracic and lumbar spine radiographs of 54 more adult patients with sickle cell anemia. Results and conclusion. A total of eight patients (14%) displayed infarcted vertebrae with compensatory vertical growth of at least one adjacent vertebrae. These resemble the elongated vertebral bodies associated with other conditions. We can find no prior report of this finding in association with sickle cell anemia. (orig.)
Ezenwa, Miriam O.; Molokie, Robert E.; Wang, Zaijie Jim; Yao, Yingwei; Suarez, Marie L.; Angulo, Veronica; Wilkie, Diana J.
Context Patient demographic and clinical factors have known associations with acute health care utilization (AHCU) among patients with sickle cell disease (SCD), but it is unknown if pain measured predominantly in an outpatient setting is a predictor of future AHCU in patients with SCD. Objectives To determine whether multidimensional pain scores obtained predominantly in an outpatient setting predicted subsequent one-year AHCU by 137 adults with SCD and whether the pain measured at a second visit also predicted AHCU. Methods Pain data included the Composite Pain Index (CPI), a single score representative of a multidimensional pain experience (number of pain sites, intensity, quality, and pattern). Based on the distribution of AHCU events, we divided patients into three groups: (1) zero events (Zero), (2) 1–3 events (Low), or (3) 4–23 events (High). Results The initial CPI scores differed significantly by the three groups (F(2,134)=7.38, P=0.001). Post hoc comparisons showed that the Zero group had lower CPI scores than both the Low group (Pgroup (Page, and CPI scores (at both measurement times) were statistically significant predictors of utilization events. Pain intensity scores at both measurement times were significant predictors of utilization, but other pain scores (number of pain sites, quality, and pattern) were not. Conclusion Findings support use of outpatient CPI scores or pain intensity and age to identify at-risk young adults with SCD who are likely to benefit from improved outpatient pain management plans. PMID:24636960
Singh, Princy; Upadhyay, Amit; Sreenivas, Vishnubhatla; Jaiswal, Vijay; Saxena, Pranjali
To determine incidence of hypoglycemia in exclusively breastfed, high-risk but healthy newborns, and risk factors for its development. This observational study enrolled 407 exclusively breastfed high-risk (low birth weight newborns (1800-2499 g), late preterms, small-for-gestation, large-for-gestation and infant of diabetic mother), who did not require admission to neonatal intensive care unit and were kept in postnatal wards with mother. Hypoglycemia was defined as blood glucose £46 mg/dL (2.6 mmol/L). Blood glucose was monitored till 48 hours of life. 27% of the screened newborns developed hypoglycemia in first 48 hours. 31 (7.6%) developed recurrent (>2) episodes, 28 (6.8%) had moderate (<37mg/dL) while 8 (1.9%) developed symptomatic hypoglycemia. With increase in birthweight, risk of hypoglycemia reduced significantly (P=0.003). Hypoglycemia was observed more frequently in first 2 hours as compared to next 48 hours (P=0.0001). Low birth- weight, preterm gestation and male gender was significantly associated with increased risk of hypoglycemia. Healthy, high-risk exclusively breastfed newborns in postnatal wards need close monitoring for hypoglycemia in first 24 hrs of life.
Martí-Carvajal, Arturo J; Peña-Martí, Guiomar E; Comunián-Carrasco, Gabriella; Martí-Peña, Arturo J
Sickle cell disease is a group of genetic haemoglobin disorders. All over the world, about 300,000 children with these disorders are born each year. Acute sickle cell pain episodes are the most common cause of hospitalisation. Pregnancy in women with sickle cell disease is associated with an increased incidence of maternal and fetal morbidity and mortality. The painful crisis is a severe complication of this illness, and it requires several interventions: packed red cell transfusion, fluid replacement therapy, analgesic drugs, oxygen therapy and steroids; but the approach is not standardised. To assess the effectiveness and safety of different regimens of packed red cell transfusion, oxygen therapy, fluid replacement therapy, analgesic drugs, and steroids for the treatment of painful sickle cell crisis during pregnancy. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (December 2007), the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register (October 2007), LILACS database (1982 to December 2007) and the following web sites: ClinicalTrials.gov (http://www.clinicaltrials.gov) (December 5, 2007); Current Controlled Trials (http://controlled-trials.com/) (December 5, 2007), and Sistema de Información Esencial en Terapéutica y Salud (http://www.icf.uab.es/informacion/Papyrus/sietes.asp) (December 1, 2007). We also handsearched the European Haematology Association conference (June 2007), the American Society of Hematology conference (December 2007) and reference lists of all retrieved articles. We intended to include randomised clinical trials. We intended to summarise data by standard Cochrane Collaboration methodologies. We could not find any randomised clinical trials on interventions (packed red cell transfusion, oxygen therapy, fluid replacement therapy, analgesic drugs, and steroids) for the treatment of painful sickle cell crisis during pregnancy. This review found no randomised clinical trials on the safety and
High risk industries such as commercial aviation and the oil and gas industry have achieved exemplary safety performance. This paper reviews how they have managed to do that. The primary reasons are the positive attitudes towards safety and the operation of effective formal safety management systems. The safety culture provides an important explanation of why such organisations perform well. An evolutionary model of safety culture is provided in which there is a range of cultures from the pathological through the reactive to the calculative. Later, the proactive culture can evolve towards the generative organisation, an alternative description of the high reliability organisation. The current status of health care is reviewed, arguing that it has a much higher level of accidents and has a reactive culture, lagging behind both high risk industries studied in both attitude and systematic management of patient risks.
Røder, Martin Andreas; Berg, Kasper Drimer; Christensen, Ib Jarle
) is regarded as primary therapy by others. This study examined the outcome for high-risk localized PCa patients treated with RP. Material and methods. Of 1300 patients who underwent RP, 231 were identified as high-risk. Patients were followed for biochemical recurrence (BCR) (defined as prostate-specific......Abstract Objective. The optimal therapeutic strategy for high-risk localized prostate cancer (PCa) is controversial. Supported by randomized trials, the combination of external beam radiation therapy (EBRT) and endocrine therapy (ET) is advocated by many, while radical prostatectomy (RP...... antigen ≥ 0.2 ng/ml), metastatic disease and survival. Excluding node-positive patients, none of the patients received adjuvant therapy before BCR was confirmed. Univariate and multivariate analysis was performed with Kaplan-Meier and Cox proportional hazard models. Results. Median follow-up was 4.4 years...
McInnis, Kelly C; Ramey, Lindsay N
Stress fractures are common overuse injuries in athletes. They occur during periods of increased training without adequate rest, disrupting normal bone reparative mechanisms. There are a host of intrinsic and extrinsic factors, including biochemical and biomechanical, that put athletes at risk. In most stress fractures, the diagnosis is primarily clinical, with imaging indicated at times, and management focused on symptom-free relative rest with advancement of activity as tolerated. Overall, stress fractures in athletes have an excellent prognosis for return to sport, with little risk of complication. There is a subset of injuries that have a greater risk of fracture progression, delayed healing, and nonunion and are generally more challenging to treat with nonoperative care. Specific locations of high-risk stress fracture include the femoral neck (tension side), patella, anterior tibia, medial malleolus, talus, tarsal navicular, proximal fifth metatarsal, and great toe sesamoids. These sites share a characteristic region of high tensile load and low blood flow. High-risk stress fractures require a more aggressive approach to evaluation, with imaging often necessary, to confirm early and accurate diagnosis and initiate immediate treatment. Treatment consists of nonweight-bearing immobilization, often with a prolonged period away from sport, and a more methodic and careful reintroduction to athletic activity. These stress fractures may require surgical intervention. A high index of suspicion is essential to avoid delayed diagnosis and optimize outcomes in this subset of stress fractures. Copyright © 2016 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.
Giering, K.; Philipp, Carsten M.; Berlien, Hans-Peter
An analysis of injuries and risks using high frequency (HF) and lasers in medicine based on a literature search with MEDLINE was performed. The cases reported in the literature were classified according to the following criteria: (1) Avoidable in an optimal operational procedure. These kind of injuries are caused by a chain of unfortunate incidents. They are in principle avoidable by the 'right action at the right time' which presupposes an appropriate training of the operating team, selection of the optimal parameters for procedure and consideration of all safety instructions. (2) Avoidable, caused by malfunction of the equipment and/or accessories. The injuries classified into this group are avoidable if all safety regulations were fulfilled. This includes a pre-operational check-up and the use of medical lasers and high frequency devices only which meet the international safety standards. (3) Avoidable, caused by misuse/mistake. Injuries of this group were caused by an inappropriate selection of the procedure, wrong medical indication or mistakes during application. (4) Unavoidable, fateful. These injuries can be caused by risks inherent to the type of energy used, malfunction of the equipment and/or accessories though a pre-operational check-up was done. Some risks and complications are common to high frequency and laser application. But whereas these risks can be excluded easily in laser surgery there is often a great expenditure necessary or they are not avoidable if high frequency if used. No unavoidable risks due to laser energy occur.
Naran, A.D.; Fontana, L.
Although bone infarction is a common feature in sickle cell disease, the involvement of the orbit is an unusual complication. Intracranial bleeding is another uncommon and serious complication. Few cases of orbital infarction alone have been reported. We report imaging findings (CT, bone scan, MRI) in a 16-year-old boy with sickle cell disease with orbital infarction and epidural hematoma. The precise cause of epidural hematoma is not well known, but it is probably related to vaso-occlusive episodes and the tearing of small vessels. (orig.)
Full Text Available Background & aim: AIDS is one of the major public health challenges all over the world. Perceived risk is a significant predictor of high-risk behaviors related to AIDS. Women constitute more than half of the HIV patients, and the rate of female sex workers with AIDS is more than the rest of female population. Therefore, the present study aimed to evaluate AIDS risk perception and its related factors in females with high-risk behaviors in Mashhad, Iran. Methods:This descriptive study was performed on 58 women who were arrested on prostitution charges and imprisoned in Mashhad Vakil Abad Prison in 2013. The data were collected using self-designed questionnaires assessing knowledge regarding AIDS as well as sexual activities and also perceived risk of HIV questionnaire. One-way ANOVA, independent samples t-test, linear regression, and Chi-square tests were run, using SPSS version 16. Results: The mean score of HIV risk perception was 18.43±5.92, which was average. There was a significant relationship between the mean score of perceived risk of HIV and knowledge regarding AIDS (P=0.005, alcohol consumption (P=0.04, history of addiction (P=0.008, using contraceptive methods (P=0.01, condom use during intercourse (P=0.02, voluntary HIV testing (P=0.001, and follow-up of HIV test (P=0.009. Conclusion:The findings of the present study revealed that knowledge, alcohol consumption, history of addiction, contraceptive methods, the rate of condom use during intercourse, as well as voluntary HIV testing and follow-up were associated with perceived risk of HIV infection. Therefore, taking the necessary steps towards health promotion through appropriate training and interventional approaches seems to be mandatory for reducing high-risk behaviors in populations with low risk perception.
Kogutt, M.S.; Goldwag, S.S.; Gupta, K.L.; Kaneko, K.; Humbert, J.R.
We prospectively evaluated a group of patients with sickle cell disease and a clinical history of prior stroke, comparing transcranial Doppler sonography (TCD) to both magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) to determine its efficacy for the detection of flow abnormalities associated with prior cerebral infarction. Using MRI as the standard examination, there was 94 % sensitivity and 30 % specificity, and using MRA as the standard examination, there was 91 % sensitivity and 22 % specificity. We concur with other reports that the transcranial Doppler examination is a highly sensitive study. In our group of sickle cell disease patients with prior stroke, TCD reliably detected flow abnormalities that correlated to areas of prior cerebral infarction. (orig.)
Jenerette, Coretta; Dixon, Jane
Ethnic and cultural norms influence an individual's assertiveness. In health care, assertiveness may play an important role in health outcomes, especially for predominantly minority populations, such as adults with sickle cell disease. Therefore, it is important to develop measures to accurately assess assertiveness. It is also important to reduce response burden of lengthy instruments while retaining instrument reliability and validity. The purpose of this article is to describe development of a shorter version of the Simple Rathus Assertiveness Schedule (SRAS). Data from a cross-sectional descriptive study of adults with sickle cell disease were used to construct a short form of the SRAS, guided by stepwise regression analysis. The 19-item Simple Rathus Assertiveness Scale-Short Form (SRAS-SF) had acceptable reliability (α = .81) and construct validity and was highly correlated with the SRAS (r = .98, p = .01). The SRAS-SF reduces response burden, while maintaining reliability and validity.
Nancy S. Green MD
Full Text Available Sickle cell disease (SCD is associated with high mortality for children under 5 years of age in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD treatment are under development to reduce disease burden in Uganda and elsewhere in the region. Based on an international stakeholder meeting and a family-directed conference on SCD in Kampala in 2015, and interviews with parents, multinational experts, and other key informants, we describe health care, community, and family perspectives in support of these initiatives. Key stakeholder meetings, discussions, and interviews were held to understand perspectives of public health and multinational leadership, patients and families, as well as national progress, resource needs, medical and social barriers to program success, and resources leveraged from HIV/AIDS. Partnering with program leadership, professionals, patients and families, multinational stakeholders, and leveraging resources from existing programs are needed for building successful programs in Uganda and elsewhere in sub-Saharan Africa.
McGann, Patrick T; Ware, Russell E
Sickle cell anemia (SCA) is a severe, inherited hemoglobin disorder affecting 100,000 persons in the US and millions worldwide. Hydroxyurea, a once daily oral medication, has emerged as the primary disease-modifying therapy for SCA. The accumulated body of evidence over 30 years demonstrates that hydroxyurea is a safe and effective therapy for SCA, but hydroxyurea remains underutilized for a variety of reasons. In this review, we summarize the available evidence regarding the pharmacology, clinical, and laboratory benefits, and safety of hydroxyurea therapy for the treatment of SCA. The purpose of this review is to provide the reader a comprehensive understanding of hydroxyurea and to reinforce the fact that hydroxyurea is a safe and effective medication for the treatment of SCA. In our opinion, hydroxyurea therapy should be considered standard-of-care for SCA, representing an essential component of patient management. Early initiation and broader use of hydroxyurea will alter the natural history of SCA, so affected children can live longer and healthier lives. In addition, hydroxyurea use should be extended to low-resource settings such as sub-Saharan Africa, where the burden of SCA and the need for hydroxyurea is arguably the greatest.
Alkan, Ozlem, E-mail: email@example.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Ebru, E-mail: firstname.lastname@example.org [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Osman, E-mail: email@example.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yildirim, Tulin, E-mail: firstname.lastname@example.org [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Karaca, Sibel, E-mail: email@example.com [Department of Neurology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yeral, Mahmut, E-mail: firstname.lastname@example.org [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kasar, Mutlu, E-mail: email@example.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Ozdogu, Hakan, E-mail: firstname.lastname@example.org [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey)
Purpose: To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). Materials and methods: We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. Results: Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. Conclusions: The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.
Singhroy, V.; Li, J.
During the past year there were at least twenty five media reports of landslides and seismic activities some fatal, occurring in various areas in Canada. These high risk geohazards sites requires high resolution monitoring both spatially and temporally for mitigation purposes, since they are near populated areas and energy, transportation and communication corridors. High resolution air photos, lidar and satellite images are quite common in areas where the landslides can be fatal. Radar interferometry (InSAR) techniques using images from several radar satellites are increasingly being used in slope stability assessment. This presentation provides examples of using high-resolution (1-3m) frequent revisits InSAR techniques from RADARSAT 2 and TerraSAR X to monitor several types of high-risk landslides affecting transportation and energy corridors and populated areas. We have analyses over 200 high resolution InSAR images over a three year period on geologically different landslides. The high-resolution InSAR images are effective in characterizing differential motion within these low velocity landslides. The low velocity landslides become high risk during the active wet spring periods. The wet soils are poor coherent targets and corner reflectors provide an effective means of InSAR monitoring the slope activities.
The risks associated with the disposal of high level wastes derive from the potential for release of radioactive materials into the environment. The assessment of these risks requires a methodology for risk analysis, an identification of the radioactive sources, and a method by which to express the relative hazard of the various radionuclides that comprise the high level waste. The development of a methodology for risk analysis is carried out after a review of previous work in the area of probabilistic risk assessment. The methodology suggested involves the probabilistic analysis of a general accident consequence distribution. In this analysis, the frequency aspect of the distribution is treated separately from the normalized probability function. At the final stage of the analysis, the frequency and probability characteristics of the distribution are recombined to provide an estimate of the risk. The characterization of the radioactive source term is accomplished using the ORIGEN computer code. Calculations are carried out for various reactor types and fuel cycles, and the overall waste hazard for a projected thirty-five year nuclear power program is determined
Tubman, Venée N; Marshall, Roseda; Jallah, Wilhemina; Guo, Dongjing; Ma, Clement; Ohene-Frempong, Kwaku; London, Wendy B; Heeney, Matthew M
In malaria-endemic countries in West Africa, sickle cell disease (SCD) contributes to childhood mortality. Historically, Liberia had regions wherein hemoglobin S and beta-thalassemia trait were mutually exclusive. Data on hemoglobinopathies in the Monrovia, the capital, are outdated and do not reflect urban migration. Updating the epidemiology of SCD is necessary to plan a public health and clinical agenda. Neither newborn screening (NBS) nor screening tools were available in country. This pilot study aimed to determine the feasibility of NBS using a South-South partnership and define the incidence of sickle cell trait (SCT) and SCD in Monrovia. This descriptive epidemiologic feasibility study collected dried blood spots from 2,785 consecutive newborns delivered at a hospital in Monrovia. Samples were analyzed by isoelectric focusing at a regional reference laboratory. Infants with SCD were referred for preventive care. SCT occurred in 10.31% of infants screened. SCD occurred in 33 infants screened [1.19% (95% confidence interval [CI]: 0.79-1.59%)] (FS: 28/33, FSB: 2/33, FSA: 2/33, FSX: 1/33). There were no infants with FSC phenotype observed. Nonsickling hemoglobin phenotypes "FC" and "F" were each present in three infants screened. Seventy-six percent of infants with SCD were brought to care, demonstrating the feasibility of our approach. The incidence of SCD and other hemoglobinopathies remains high in Liberia. Additional studies are needed to clarify sickle genotypes and identify the contribution of silent beta-thalassemia alleles. By developing regional partnerships, countries similar to Liberia can acquire current data to inform NBS as an important public health initiative toward improving child health. © 2016 Wiley Periodicals, Inc.
Viswanathan, Kusum; Swaminathan, Neeraja; Viswanathan, Ramaswamy; Lakkaraja, Madhavi
The authors would like to thank Dr. Morisky for giving us permission to use the Morisky Medication Adherence Scale To explore caregivers' Health Locus of Control's relationship to self-reported adherence to penicillin prophylaxis or hydroxyurea in children with sickle cell disease (SCD). A questionnaire-based study was conducted of caregivers of children with SCD who visited a comprehensive sickle cell center in an inner city hospital, who were either on penicillin prophylaxis or hydroxyurea or both. Multidimensional Health Locus of Control Scale (MHLC) and the Morisky Medication Adherence Scale (MMAS-8) questionnaires were used for the study. Caregivers of 43 children (27 on penicillin prophylaxis, 13 on hydroxyurea, and 3 on both) completed the MHLC and the MMAS-8. There was no significant difference in adherence between the penicillin and the hydroxyurea groups. The mean Powerful Others score of caregivers of the hydroxyurea only group (25.5+5.6) was higher than that of the penicillin only group (21.2+6.1, p=0.043). Regression analysis revealed an inverse relationship of Chance Locus of Control to adherence in the entire group (Beta = -0.306, R2=0.093, F[1,40]=4.12, p=0.049). Chance Locus of control may identify caregivers of children with SCD at risk for non-adherence to treatment. © 2015 National Medical Association. Published by Elsevier Inc. All rights reserved.
Tubman, Venée N; Makani, Julie
Sickle cell disease (SCD) is a group of recessively inherited disorders of erythrocyte function that presents an ongoing threat to reducing childhood and adult morbidity and mortality around the world. While decades of research have led to improved survival for SCD patients in wealthy countries, survival remains dismal in low- and middle-income countries. Much of the early mortality associated with SCD is attributed to increased risk of infections due to early loss of splenic function. In the West, bacterial infections with encapsulated organisms are a primary concern. In sub-Saharan Africa, where the majority of infants with SCD are born, the same is true. However malaria presents an additional threat to survival. The search for factors that define variability in sickle cell phenotypes should include environmental modifiers, such as malaria. Further exploration of this relationship could lead to novel strategies to reduce morbidity and mortality attributable to infections. In this review, we explore the interactions between SCD, malaria and the spleen to better understand how splenomegaly and splenic (dys)function may co-exist in patients with SCD living in malaria-endemic areas. © 2017 John Wiley & Sons Ltd.
Grimm, Lars J; Saha, Ashirbani; Ghate, Sujata V; Kim, Connie; Soo, Mary Scott; Yoon, Sora C; Mazurowski, Maciej A
To determine if background parenchymal enhancement (BPE) on screening breast magnetic resonance imaging (MRI) in high-risk women correlates with future cancer. All screening breast MRIs (n = 1039) in high-risk women at our institution from August 1, 2004, to July 30, 2013, were identified. Sixty-one patients who subsequently developed breast cancer were matched 1:2 by age and high-risk indication with patients who did not develop breast cancer (n = 122). Five fellowship-trained breast radiologists independently recorded the BPE. The median reader BPE for each case was calculated and compared between the cancer and control cohorts. Cancer cohort patients were high-risk because of a history of radiation therapy (10%, 6 of 61), high-risk lesion (18%, 11 of 61), or breast cancer (30%, 18 of 61); BRCA mutation (18%, 11 of 61); or family history (25%, 15 of 61). Subsequent malignancies were invasive ductal carcinoma (64%, 39 of 61), ductal carcinoma in situ (30%, 18 of 61) and invasive lobular carcinoma (7%, 4of 61). BPE was significantly higher in the cancer cohort than in the control cohort (P = 0.01). Women with mild, moderate, or marked BPE were 2.5 times more likely to develop breast cancer than women with minimal BPE (odds ratio = 2.5, 95% confidence interval: 1.3-4.8, P = .005). There was fair interreader agreement (κ = 0.39). High-risk women with greater than minimal BPE at screening MRI have increased risk of future breast cancer. Copyright © 2018 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.
Jarrett, Kevin; Williams, Mary; Horn, Spencer; Radford, David; Wyss, J Michael
"Sickle cell anemia: tracking down a mutation" is a full-day, inquiry-based, biology experience for high school students enrolled in genetics or advanced biology courses. In the experience, students use restriction endonuclease digestion, cellulose acetate gel electrophoresis, and microscopy to discover which of three putative patients have the sickle cell genotype/phenotype using DNA and blood samples from wild-type and transgenic mice that carry a sickle cell mutation. The inquiry-based, problem-solving approach facilitates the students' understanding of the basic concepts of genetics and cellular and molecular biology and provides experience with contemporary tools of biotechnology. It also leads to students' appreciation of the causes and consequences of this genetic disease, which is relatively common in individuals of African descent, and increases their understanding of the first principles of genetics. This protocol provides optimal learning when led by well-trained facilitators (including the classroom teacher) and carried out in small groups (6:1 student-to-teacher ratio). This high-quality experience can be offered to a large number of students at a relatively low cost, and it is especially effective in collaboration with a local science museum and/or university. Over the past 15 yr, >12,000 students have completed this inquiry-based learning experience and demonstrated a consistent, substantial increase in their understanding of the disease and genetics in general. Copyright © 2016 The American Physiological Society.
Andrew T. Taylor
Full Text Available High-altitude illnesses encompass the pulmonary and cerebral syndromes that occur in non-acclimatized individuals after rapid ascent to high altitude. The most common syndrome is acute mountain sickness (AMS which usually begins within a few hours of ascent and typically consists of headache variably accompanied by loss of appetite, nausea, vomiting, disturbed sleep, fatigue, and dizziness. With millions of travelers journeying to high altitudes every year and sleeping above 2,500 m, acute mountain sickness is a wide-spread clinical condition. Risk factors include home elevation, maximum altitude, sleeping altitude, rate of ascent, latitude, age, gender, physical condition, intensity of exercise, pre-acclimatization, genetic make-up, and pre-existing diseases. At higher altitudes, sleep disturbances may become more profound, mental performance is impaired, and weight loss may occur. If ascent is rapid, acetazolamide can reduce the risk of developing AMS, although a number of high-altitude travelers taking acetazolamide will still develop symptoms. Ibuprofen can be effective for headache. Symptoms can be rapidly relieved by descent, and descent is mandatory, if at all possible, for the management of the potentially fatal syndromes of high-altitude pulmonary and cerebral edema. The purpose of this review is to combine a discussion of specific risk factors, prevention, and treatment options with a summary of the basic physiologic responses to the hypoxia of altitude to provide a context for managing high-altitude illnesses and advising the non-acclimatized high-altitude traveler.
Jing, Tao; Zhao, Hongxiang
This paper mainly focuses on the correlation between live hedge fund return and their value at risk (VaR), and is based on the historical data from May 2000 to April 2010. The authors adopt portfolio level analyses and fund level cross-sectional regression, and find that there is significant positive correlation, both statistically and economically, between the hedge fund return and VaRs (parametric, non-parametric and GARCH). Further research is conducted by sub-dividing the overall period i...
Jensen, Michael; Bunn, H. Franklin; Halikas, George; Kan, Yuet Wai; Nathan, David G.
Cyanate and 2,3-diphosphoglycerate (2,3-DPG) both influence the oxygen affinity of hemoglobin. The studies presented here concern the effects of these compounds on the sickling phenomenon. The inhibitory effect of cyanate on sickling is largely due to the fact that it increases the percentage of oxyhemoglobin S at a given oxygen tension. In addition, cyanate inhibits sickling by a mechanism that is independent of oxygenation. In this paper, we have demonstrated that the viscosity of carbamylated sickle blood was lower than that of non-carbamylated controls at the same oxygen saturation. Furthermore, carbamylation resulted in an increase in the minimum concentration of deoxy-sickle hemoglobin required for gelation. Like cyanate, 2,3-DPG affected sickling of intact erythrocytes by two mechanisms. Since 2,3-DPG decreases the percentage of oxyhemoglobin S at a given oxygen tension, sickling is enhanced. In addition, 2,3-DPG had a direct effect. When the intracellular 2,3-DPG concentration was increased in vitro, a greater percentage of cells were sickled at a given oxygen saturation. Conversely, sickling was inhibited in cells in which 2,3-DPG was artificially lowered. These data indicate that the enhancement of sickling by 2,3-DPG is in part independent of its influence on oxygen affinity. PMID:4729047
Jønsson, Line Rokkedal; Ingelsrud, Lina Holm; Tengberg, Line Toft
BACKGROUND: Acute high-risk abdominal (AHA) surgery is associated with high mortality, multiple postoperative complications and prolonged hospital stay. Further development of strategies for enhanced recovery programs following AHA surgery is needed. The aim of this study was to describe physical...... are primarily fatigue and abdominal pain. Further studies investigating strategies for early mobilization and barriers to mobilization in the immediate postoperative period after AHA surgery are needed.......BACKGROUND: Acute high-risk abdominal (AHA) surgery is associated with high mortality, multiple postoperative complications and prolonged hospital stay. Further development of strategies for enhanced recovery programs following AHA surgery is needed. The aim of this study was to describe physical...... performance and barriers to independent mobilization among patients who received AHA surgery (postoperative days [POD] 1-7). METHODS: Patients undergoing AHA surgery were consecutively enrolled from a university hospital in Denmark. In the first postoperative week, all patients were evaluated daily...
Full Text Available Hemoglobinopathies are highly prevalent diseases and impose a public health burden. Early diagnosis and treatment can ameliorate the course of these diseases and improve survival. Despite purported high incidence of hemoglobinopathies in Lebanon, there are no nationwide screening programs. In this study, newborn screening utilizing high pressure liquid chromatography was executed in all public hospitals across Lebanon between 2010 and 2013. All newborns with an abnormal hemoglobin (Hb were offered genetic counseling and all those with disease were enrolled in comprehensive hemoglobinopathy clinics. Among newborns, 2.1% were found to have an abnormal Hb variant with sickle Hb being the most common while 0.1% were found to have sickle cell disease (SCD. The majority of those with SCD had non-Lebanese origins. The most common causes of hospitalizations in infants with SCD were acute splenic sequestration and pain crises. No bacteremia or other life threatening infections were noted. At a median follow up 14 months (follow up range 7 to 34 months, all children with disease are alive and compliant with treatment. Systematic screening for SCD and other Hb variants was shown to be feasible, cost effective, and of accurate predictive value. This program was also clinically effective because it led to the identification of babies with disease and to providing them with free early multidisciplinary care. Conclusively, a newborn screening program should be implemented across Lebanon to detect hemoglobinopathies and initiate early therapeutic and preventive strategies and genetic counseling.
Connolly, Stuart J; Camm, A John; Halperin, Jonathan L
Dronedarone restores sinus rhythm and reduces hospitalization or death in intermittent atrial fibrillation. It also lowers heart rate and blood pressure and has antiadrenergic and potential ventricular antiarrhythmic effects. We hypothesized that dronedarone would reduce major vascular events...... in high-risk permanent atrial fibrillation....
Background: Obstructive sleep apnoea is associated with significant health consequences. A significant proportion of hospitalized patients at risk for obstructive sleep apnoea were never identified and referred for polysomnography for diagnosis. The objective of this study was to determine the factors associated with high ...
Background: The prevalence of diet-related chronic diseases like hypertension and obesity among others has become a public health concern. Risk factors for these diseases have been well studied in high income countries but less studied in developing countries. Objective: The study was to document the prevalence and ...
Full Text Available The study examined sensation seeking intensity level in males involved in recreational high risk sports and investigated whether its level depends on type of sport practised. Additionally, in case of parachutists, sport experience of study participants were scrutinised with regard to its possible impact on the level of sensation seeking.The research involved 217 males aged 17 to 45, practising recreational high risk sports, namely: parachuting (n=98; wakeboarding (n=30; snowboarding (n=30; scuba diving (n=22; alpinism (n=20; paragliding (n=17. The control group included 54 men not involved in sports. Polish version of Sensation Seeking Scale (SSS-IV of Zuckerman was applied.Results show, that high risk sports males are featured by stronger need of sensations in comparison to control group and this concerned all but one aspect of sensation seeking variable. The only exception was the need of intellectual stimulation. Except from the thrill and adventure seeking dimension, type of sport may also be an important determinant of sensation seeking. Men practising snowboard and wakeboard presented stronger need for sensations, especially in the dimension of experience seeking, disinhibition and boredom susceptibility. Sport experience (number of jumps in parachuting did not differentiate the level of sensation seeking among investigated parachutists. Population of sport high risk male takers was not homogeneous, and therefore in future research one should analyse specific sports (or events in a certain sport separately.
Sædder, Eva Aggerholm; Lisby, Marianne; Nielsen, Lars Peter
Medication errors (MEs) are preventable and can result in patient harm and increased expenses in the healthcare system in terms of hospitalization, prolonged hospitalizations and even death. We aimed to develop a screening tool to detect acutely admitted patients at low or high risk of MEs...
There was a significant association between alcohol-related problems and risky sexual behavior. Alcohol-related problems are fairly common in people already infected with HIV/AIDS and are associated with high-risk sexual behavior. Thus, screening and treatment should be part of an effective HIV intervention program.
Overgaard, M.; Juul Christensen, J.; Johansen, H.; Nybo-Rasmussen, A.; Brincker, H.; Kooy, P. van der; Frederiksen, P.L.; Laursen, F.; Panduro, J.; Soerensen, N.E.; Gadeberg, C.C.; Hjelm-Hansen, M.; Overgaard, J.; West Andersen, K.; Zedeler, K.
All pre- and postmenopausal high-risk breast cancer patients in the protocols DBCG 77 of the Danish Breast Cancer Cooperative Group received postmastectomy irradiation before randomization to either adjuvant systemic therapy or no such treatment. The actuarial loco-regional recurrence rate at 9 years was 6-17%, with the lowest rate in patients who also received additional adjuvant chemotherapy or tamoxifen. In a subsequent study (DBCG 82) the role of postmastectomy irradiation together with systemic treatment was evaluated in high-risk patients. Pre- and menopausal patients were randomized to postmastectomy irradiation+CMF (cyclophosphamide, methotrexate, 5-fluorouracil), CMF alone or CMF+TAM (tamoxifen). Postmenopausal patients were randomized to postmastectomy irradiation+TAM, TAM or CMF+TAM. At 4 years the loco-regional recurrence rate was significantly lower in the irradiated patients (5-7% vs. 23-33%). Further, disease-free survival was significantly improved in both pre- and postmenopausal irradiated patients compared with those who had only systemic treatment. At present, there are no significant differences between survival in the treatment groups. Thus, adjuvant systemic treatment alone (chemotherapy and/or tamoxifen) did not prevent loco-regional recurrences in high-risk patients after mastectomy and axillary lymph node sampling. However, a longer observation time is necessary to evaluate the consequence of primary optimal loco-regional tumour control in high-risk breast cancer patients with respect to survival. (orig.)
Zhou, Zongkui; Tang, Hanying; Tian, Yuan; Wei, Hua; Zhang, Fengjuan; Morrison, Chelsey M.
Cyberbullying has become a common occurrence among adolescents worldwide; however, it has yet to receive adequate scholarly attention in China, especially in the mainland. The present study investigated the epidemiological characteristics and risk factors of cyberbullying, utilizing a sample of 1,438 high school students from central China.…
Full Text Available Reviewed: The High-mountain Cryosphere: Environmental Changes and Human Risks Edited by Christian Huggel, Mark Carey, John J. Clague, and Andreas Kääb. Cambridge, UK: Cambridge University Press, 2015. xii + 363 pp. Hardcover: US$ 140.00, ISBN 978-1-107-06584-0. E-book: US$ 112.00, ISBN 978-1-316-35515-2.
Slack, Kelley; Noe, Raymond; Weaver, Sallie
Research examining teams working in high-risk operations has been lacking. The present symposium showcases research on team training that helps to optimize team performance in environments characterized by life or death situations arising spontaneously after long periods of mundane activity by pulling experts from diverse areas of industry: space flight, health care, and medical simulation.
Jabbehdari, Sayena; Rafii, Alireza Baradaran; Yazdanpanah, Ghasem; Hamrah, Pedram; Holland, Edward J; Djalilian, Ali R
In this article, we review the indications and latest management of high-risk penetrating keratoplasty. Despite the immune-privilege status of the cornea, immune-mediated graft rejection still remains the leading cause of corneal graft failure. This is particularly a problem in the high-risk graft recipients, namely patients with previous graft failure due to rejection and those with inflamed and vascularized corneal beds. A number of strategies including both local and systemic immunosuppression are currently used to increase the success rate of high-risk corneal grafts. Moreover, in cases of limbal stem cell deficiency, limbal stem cells transplantation is employed. Corticosteroids are still the top medication for prevention and treatment in cases of corneal graft rejection. Single and combined administration of immunosuppressive agents e.g. tacrolimus, cyclosporine and mycophenolate are promising adjunctive therapies for prolonging graft survival. In the future, cellular and molecular therapies should allow us to achieve immunologic tolerance even in high-risk grafts.
A multiplex polymerase chain reaction (PCR) assay was developed and applied to spiked and natural paneer samples to detect Listeria monocytogenes, a high risk food pathogen. The sensitivity of the assay on L. monocytogenes spiked paneer samples was 104 cells prior to enrichment, was improved to 103 cells after 4 h ...
Saxena, Pulkit; Chavarria, Christopher; Thurlow, John
Exertional rhabdomyolysis is a complication of sickle cell trait (SCT) likely first reported in the military population over 40 years ago. Although commonly a benign condition, numerous studies and case reports have identified SCT positive patients to be at increased risk for rhabdomyolysis, compartment syndrome and sudden cardiac death. We report a recent case of an SCT positive African American active duty male Soldier who suffered exertional rhabdomyolysis following an Army Physical Fitness Test. His course was complicated by acute renal failure requiring hemodialysis, and he eventually recovered renal function. The diagnosis was significantly delayed despite a typical clinical presentation and available SCT screening results. The case highlights the importance of the recognition of SCT as a risk factor for severe rhabdomyolysis, and suggests more must be done for an effective SCT screening program for the active duty military population.
Sundi, Debasish; Jeong, Byong Chang; Lee, Seung Bae; Han, Misop
Prostate cancer has a high prevalence and a rising incidence in many parts of the world. Although many screen-detected prostate cancers may be indolent, prostate cancer remains a major contributor to mortality in men. Therefore, the appropriate diagnosis and treatment of localized prostate cancer with lethal potential are of great importance. High-risk, localized prostate cancer has multiple definitions. Treatment options that should be individualized to each patient include observation, radi...
Full Text Available Introduction: Use of alternative venues to manage uncomplicated vaso-occlusive crisis (VOC, such as a day hospital (DH or ED observation unit, for patients with sickle cell anemia, may significantly reduce admission rates, which may subsequently reduce 30-day readmission rates. Methods: In the context of a two-institution quality improvement project to implement best practices for management of patients with sickle cell disease (SCD VOC, we prospectively compared acute care encounters for utilization of 1 emergency department (ED; 2 ED observation unit; 3 DH, and 4 hospital admission, of two different patient cohorts with SCD presenting to our two study sites. Using a representative sample of patients from each institution, we also tabulated SCD patient visits or admissions to outside hospitals within 20 miles of the patients’ home institutions. Results: Over 30 months 427 patients (297 at Site 1 and 130 at Site 2 initiated 4,740 institutional visits, totaling 6,627 different acute care encounters, including combinations of encounters. The range of encounters varied from a low of 0 (203 of 500 patients [40.6%] at Site 1; 65 of 195 patients [33.3%] at Site 2, and a high of 152 (5/month acute care encounters for one patient at Site 2. Patients at Site 2 were more likely to be admitted to the hospital during the study period (88.4% vs. 74.4%, p=0.0011 and have an ED visit (96.9% vs. 85.5%, p=0.0002. DH was used more frequently at Site 1 (1.207 encounters for 297 patients at Site 1, vs. 199 encounters for 130 patients at Site 2, and ED observation was used at Site 1 only. Thirty-five percent of patients visited hospitals outside their home academic center. Conclusion: In this 30-month assessment of two sickle cell cohorts, healthcare utilization varied dramatically between individual patients. One cohort had more hospital admissions and ED encounters, while the other cohort had more day hospital encounters and used a sickle cell disease
Daak, Ahmed A; Elsamani, Elfatih; Ali, Eltigani H; Mohamed, Fatma A; Abdel-Rahman, Manar E; Elderdery, Abozer Y; Talbot, Octavious; Kraft, Peter; Ghebremeskel, Kebreab; Elbashir, Mustafa I; Fawzi, Wafaie
-economic status were the strongest positive predictors of poor attitude and practices towards SCD (P < 0.01). Sickle cell disease is a major health problem in West Kordofan, Sudan. Knowledge, attitude and practices towards the disease are not satisfactory. The development of public health programs is highly recommended to control and manage SCD in western parts of Sudan. © 2016 John Wiley & Sons Ltd.
Arkuszewski, M; Krejza, J; Chen, R; Kwiatkowski, J L; Ichord, R; Zimmerman, R; Ohene-Frempong, K; Desiderio, L; Melhem, E R
TCD screening is widely used to identify children with SCD at high risk of stroke. Those with high mean flow velocities in major brain arteries have increased risk of stroke. Thus, our aim was to establish reference values of interhemispheric differences and ratios of blood flow Doppler parameters in the tICA, MCA, and ACA as determined by conventional TCD in children with sickle cell anemia. Reference limits of blood flow parameters were established on the basis of a consecutive cohort of 56 children (mean age, 100 ± 40 months; range, 29-180 months; 30 females) free of neurologic deficits and intracranial stenosis detectable by MRA, with blood flow velocities <170 cm/s by conventional TCD. Reference limits were estimated by using tolerance intervals, within which are included with a probability of .90 of all possible data values from 95% of a population. Average peak systolic velocities were significantly higher in the right hemisphere in the MCA and ACA (185 ± 28 cm/s versus 179 ± 27 and 152 ± 30 cm/s versus 143 ± 34 cm/s respectively). Reference limits for left-to-right differences in the mean flow velocities were the following: -43 to 33 cm/s for the MCA; -49 to 38 cm/s for the ACA, and -38 to 34 cm/s for the tICA, respectively. Respective reference limits for left-to-right velocity ratios were the following: 0.72 to 1.25 cm/s for the MCA; 0.62 to 1.39 cm/s for the ACA, and 0.69 to 1.27 cm/s for the tICA. Flow velocities in major arteries were inversely related to age and Hct or Hgb. The study provides reference intervals of TCD flow velocities and their interhemispheric differences and ratios that may be helpful in identification of intracranial arterial stenosis in children with SCD undergoing sonographic screening for stroke prevention.
Smith, C.F.; Kastenberg, W.E.
One of the major concerns with the continued growth of the nuclear power industry is the production of the high level radioactive wastes. The risks associated with the disposal of these wastes derives from the potential for release of radioactive materials into the environment. The development of a methodology for risk analysis is carried out. The methodology suggested involves the probabilistic analysis of a general accident consequence distribution. In this analysis, the frequency aspect of the distribution is treated separately from the normalized probability function. In the final stage of the analysis, the frequency and probability characteristics of the distribution are recombined to provide an estimate of the risk. The characterization of the radioactive source term is accomplished using the ORIGEN computer code. Calculations are carried out for various reactor types and fuel cycles, and the overall waste hazard for a projected 35 year nuclear power program is determined. An index of relative nuclide hazard appropriate to problems involving the management of high level radioactive wastes is developed. As an illustration of the methodology, risk analyses are made for two proposed methods for waste management: extraterrestrial disposal and interim surface storage. The results of these analyses indicate that, within the assumptions used, the risks of these management schemes are small compared with natural background radiation doses. (Auth.)
Michelle C. Silva
Full Text Available A anemia falciforme é uma doença genética caracterizada pelo alto índice de morbimortalidade, considerada como a mais grave entre as doenças falciformes. As opções terapêuticas mais eficazes atualmente disponíveis para tratamento desta hemoglobinopatia são transplante de medula óssea (TMO e hidroxiuréia (HU. O TMO apesar de ser a medida curativa é considerado de alto risco por apresentar diversos graus de complicações e significativo nível de mortalidade. O uso de HU em crianças portadoras de anemia falciforme tem proporcionado redução de complicações clínicas e aumento significativo na expectativa de vida, por promover elevação dos níveis de hemoglobina fetal, da concentração de hemoglobina e do VCM, bem como redução da hemólise e de eventos vaso-oclusivos. Desse modo, a HU é considerada como melhor opção terapêutica atualmente disponível. Porém, por ser apontada como droga potencialmente carcinogênica, há questionamentos quanto aos benefícios e toxicidades quando utilizada por longo período. Este trabalho teve como proposta, avaliar por meio da revisão literária, os riscos, benefícios e efeitos adversos da hidroxiuréia em crianças.Sickle cell anemia is a genetic disease characterized by a high morbimortality rate, it is considered as the most serious among all sickle cell diseases. The most effective therapeutic options available nowadays for the treatment of this hemoglobinopathy are bone morrow transplantation (BMT and hydroxyurea (HU. BMT is considered a high risk procedure due to the different complications and significant mortality rates. The use of HU for children with sickle cell anemia has reduced the clinical complications and given a significant increase in life expectancy by augmenting the fetal hemoglobin levels and hemoglobin concentrations and reducing cytomegalovirus, as well as reducing hemolysis and vaso-occlusive events. Thus, HU is considered the best therapeutic option currently
Miele, Catherine H; Schwartz, Alan R; Gilman, Robert H; Pham, Luu; Wise, Robert A; Davila-Roman, Victor G; Jun, Jonathan C; Polotsky, Vsevolod Y; Miranda, J Jaime; Leon-Velarde, Fabiola; Checkley, William
Miele, Catherine H., Alan R. Schwartz, Robert H. Gilman, Luu Pham, Robert A. Wise, Victor G. Davila-Roman, Jonathan C. Jun, Vsevolod Y. Polotsky, J. Jaime Miranda, Fabiola Leon-Velarde, and William Checkley. Increased cardiometabolic risk and worsening hypoxemia at high altitude. High Alt Med Biol. 17:93-100, 2016.-Metabolic syndrome, insulin resistance, diabetes, and dyslipidemia are associated with an increased risk of cardiovascular disease. While excessive erythrocytosis is associated with cardiovascular complications, it is unclear how worsening hypoxemia of any degree affects cardiometabolic risk factors in high-altitude populations. We studied the relationship between daytime resting oxyhemoglobin saturation and cardiometabolic risk factors in adult participants living in Puno, Peru (3825 m above sea level). We used multivariable logistic regression models to study the relationship between having a lower oxyhemoglobin saturation and markers of cardiometabolic risk. Nine hundred and fifty-four participants (mean age 55 years, 52% male) had information available on pulse oximetry and markers of cardiometabolic risk. Average oxyhemoglobin saturation was 90% (interquartile range 88%-92%) and 43 (4.5%) had excessive erythrocytosis. Older age, decreased height-adjusted lung function, and higher body mass index (BMI) were associated with having an oxyhemoglobin saturation ≤85%. When adjusting for age, sex, socioeconomic status, having excessive erythrocytosis, and site, we found that each 5% decrease in oxyhemoglobin saturation was associated with a higher adjusted odds of metabolic syndrome (OR = 1.35, 95% CI: 1.07-1.72, p 2 mass units (OR = 1.29, 95% CI: 1.00-1.67, p < 0.05), hemoglobin A1c ≥6.5% (OR = 1.66, 95% CI: 1.09-2.51, p < 0.04), and high sensitivity C-reactive protein (hs-CRP) ≥3 mg/L (OR = 1.46, 95% CI: 1.09-1.96, p < 0.01). In high-altitude populations in Puno, Peru, a higher BMI and lower pulmonary function were
Nsengiyumva J.ean Baptiste
Full Text Available Disaster risk management as an issue at stake worldwide shifts its emphases from post disaster to pre-disaster phases. Management activities required in pre-disaster phases, such as risk assessment, hazard identification, preparedness or preventive and mitigation measures needs detailed information about hazard characteristics, social, economic, structural vulnerability and capacity. That information is not usually available in many different countries, as it is the case in Rwanda. Based on the international experiences and practices, knowledge of disaster prone areas can be assumed as an alternative for detailed information acquisition, thus contributing to effective disaster risk management. Identification of disaster higher risk zones on floods and landslides, can lead to better understanding of disaster risk and putting in place measures for risk reduction. Consequently, as Rwanda is prone to natural hazards with lack of adequate information that is essential for effective disaster risk management, due to limited scientific researches; this study aims to address that gap. The results revealed that some areas of the North-Western parts of Rwanda are highly prone to floods and landslides, namely Burera, Musanze, Rulindo, Nyabihu, Ngororero and Rubavu Districts. This is aggravated by some triggering factors such as steep slopes, soil types, heavy rains, landuse Practices and others. Intensity and frequency of disaster events vary from district to district and this geographical dispersal confirms the non-spatial clustering (as confirmed by Moran’s I analysis of risks due to uneven level of Disaster vulnerabilities, coping capacities and available hazards whereby lack of normal distribution of hazards all over all Districts.
Apr 1, 2009 ... cell disease, there is a marked inter- and intra-individual variability in terms of ... only potentially curative therapy for sickle cell disease. This form of ... groups, their sources of information and haemoglobin phenotype status were ..... benefit analysis of prevention versus treatment of a similar genetic disease.
Background: Sickle cell disease (SCD) is the most common form of haemoglobin opathy in Nigeria but there is paucity of data for its effects on undergraduate students in universities despite the fact that this population of people suffer more burdens of the disease due to relative lack of parental care and their recently ...
Keywords: Left ventricular systolic function, sickle cell anaemia, echocardiographic evaluation, adult Nigerian patients. ..... Quadratic .505. -0.390. 12.231. 8.587 .001*. Cubic .510. -0.180. 8.264. 8.619 .001*. This relationship was further evaluated by means of scat- ter plots and subsequently by regression analysis. The.
Full Text Available Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess.
Taksande Amar; Vilhekar K
Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess.
Taksande, Amar M; Vilhekar, K Y
Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess.
Apr 1, 2009 ... psychological, financial and social burden on patients, their care-givers and society at large. Furthermore, there are very few centres with facilities for prenatal diagnosis in Nigeria.24 Suffice to say that current control measures of sickle cell disease in Nigeria are palpably meager in the face of the enormous ...
Full Text Available Objective: To highlight the epidemiological characteristics and plot the current mapping of the sickle cell syndromes in children under 15 years old. Methods: A descriptive study was conducted on children with sickle cell disease over a period of 4 years (from January 2011 to December 2015 at the Pediatric Department at El Idrissi Regional Hospital Center in Kenitra, Morocco. Results: The mean age of patients was (8.56 ± 3.97 years and the age group 6–15 years was the most affected. The male gender was the most dominant with 60.94% of cases versus 30.06% for females. The homozygous form SS was the most frequently identified (81.25% of cases while the heterozygous form SC was rarely detected (2.08%. Conclusions: Sickle cell anemia remains a reality in Morocco and may not be perfectly understood yet by health professionals. A screening policy and a sustainable management program can prevent hemoglobinopathies in the studied region. An action plan must be implemented at national level to improve the quality of management of main sickle cell syndromes.
Background/Aim: There are conflicting reports on the potential protective effects of foetal haemoglobin (HbF) in the elimination of symptoms of Sickle cell disease in the patients and reports which correlate the levels of HbF with pancreatic enzymes in SCD are scarce in the literature.This study correlates the levels of HbF on ...
42) and 24.17 ± 4.39 ... Aortic root diameter (Ao), left atrial dimension (LAD), left ventricu- ... Key: *Statistically significant, a= Chi-square, SCA= sickle cell anaemia, SD= standard deviation. ..... of fluctuations in response to changes in sympathetic.
Introduction: Previous studies had enlisted renal medullary carcinoma (RMC) as the seventh nephropathy in sickle cell disease (SCD). Clinical experience has contradicted this claim and this study is targeted at refuting or supporting this assumption. Objective: To estimate the prevalence of RMC and describe other renal ...
Lei, Huan; Karniadakis, George
Sickle red blood cells (SS-RBC) exhibit heterogeneous morphologies and abnormal hemodynamics in deoxygenated states. A multi-scale model for SS-RBC is developed based on the Dissipative Particle Dynamics (DPD) method. Different cell morphologies (sickle, granular, elongated shapes) typically observed in deoxygenated states are constructed and quantified by the Asphericity and Elliptical shape factors. The hemodynamics of SS-RBC suspensions is studied in both shear and pipe flow systems. The flow resistance obtained from both systems exhibits a larger value than the healthy blood flow due to the abnormal cell properties. Moreover, SS-RBCs exhibit abnormal adhesive interactions with both the vessel endothelium cells and the leukocytes. The effect of the abnormal adhesive interactions on the hemodynamics of sickle blood is investigated using the current model. It is found that both the SS-RBC - endothelium and the SS-RBC - leukocytes interactions, can potentially trigger the vicious ``sickling and entrapment'' cycles, resulting in vaso-occlusion phenomena widely observed in micro-circulation experiments.
ABSTRACT: This study aimed to determine retrospectively, the prevalence of hepatitis C virus infection in relation to a background history of blood transfusion; through anti HCV antibody screening test, amongst adult sickle cell disease patients. Anti HCV antibody was tested for in the serum of 92 consecutively selected ...
Background: Transfusion of blood products is a recognised way of transmitting infections particularly viruses. The extent to which blood transfusion contributes to hepatitis B virus (HBV) infections in transfused patients with sickle cell anaemia (SCA) has been found to be 20% in Lagos, Nigeria. Mamman in Zaria however ...
Objective: The objective of this report is to highlight the background factors associated with opioid abuse among Sickle Cell Disease (SCD) patients. Patients: Eleven patients aged 13-53 years (mean, 26.1yrs) which included six female and five male were seen in the last six year at a tertiary health facility. The modes of ...
Jul 20, 2014 ... Background:The clinical phenotypes of children with sickle cell disease (SCD) are poorly described in many sub-Saharan countries ..... World Health Organization. ... apps.who.int/gb/ebwha/pdf_files/WHA59/A59_9‑en.pdf.
Sickle Cell Disease (SCD) is a significant public health burden in Ghana. Recent studies indicate that 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S and/or C gene. As a means of controlling the disease, some authorities have recommended prenatal diagnosis (PND) and ...
Hamilton, W; Rosenthal, A; Berwick, D; Nadas, A S
A 7-year-old black boy with sickle cell disease, Wolff-Parkinson-White syndrome, mild left ventricular dysfunction, and normal coronary arteries developed angina pectoris five months after cessation of hypertransfusion therapy. Exercise-induced ECG ST segment depression associated with angina disappeared following transfusion therapy.
Kim, K Y; Karayalcin, G; Rosner, F; Aballi, A
An 11-year-old black boy with sickle cell anemia developed profound pancytopenia during the course of his disease, but fully recovered therefrom. The patient was receiving anticonvulsant drugs for a seizure disorder secondary to a "stroke," and, therefore, a drug-related marrow aplasia cannot be ruled out.
Sorr, E M; Goldberg, R E
An 8-year-old black boy with sickle cell trait struck his left brow and globe on the edge of a table and had immediate blurring of vision. Six days later visual acuity was light projection, and traumatic iritis with secondary glaucoma and perimacular edema were present. Fluorescein angiography indicated obstructed peripheral and perimacular arterioles and dye leakage from the disk.
Taksande, Amar M; Vilhekar, KY
Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess. (author)
Sight threatening changes in the retina are a well-recognized complication of sickle cell disease (SCD). However they usually occur in older patients with Haemoglobin SC or Sβ+thal patterns. It is rarely found under the age of 20 years in patients who are Hb SS or Sβ<°thal. This is a report of sight threatening retinopathy in ...
Journal of Medicine and Biomedical Research ... These three patients (1.2%) were found to have positive co-inheritance of thalassaemia trait and sickle cell anaemia. The erythrocyte indices were all reduced in these selected families except for one family whose mean cell haemoglobin concentration was within normal ...
Objective: To investigate the efficacy of Niprisan®, an antisickling agent, in the management of sickle cell retinopathy. Methods: The study was designed as a phase IIb double-blind, placebo-controlled crossover trial. Eighty-eight patients aged between 5 and 36 years (mean 15.3 years) were randomized into 2 treatment ...
spectrophotometery. Field induced menbrane potential which causes the L partyl breakdown of the memrbrane and the formation of pores was calculated... plasma . Fig.5 shows the photographs of sickled and desickled SS erythrocytes which are suspended in Hank’s solution. As shown, desickled erythrocytes
May 16, 2007 ... A total of 50 normal controls and 54 SCA patients attending the sickle cell clinic of the. University of Calabar Teaching Hospital, Cross River State of Nigeria, were screened for haemolysins and quantitated using standard techniques. The distribution of haemolysins in the SCA patients was α. (16.7), β (11.1) ...
Full Text Available Objective: Undertreated pain around the world includes the acute and chronic pain caused by sickle cell disease (SCD. In collaboration with a Caribbean association that aims to provide assistance to those diagnosed with SCD, we surveyed adults with SCD about pain management and impact of SCD pain. Methods: Participants were recruited from a group of 55 adults with SCD. A survey was administered to those who agreed to participate. Questions centred on their self-assessed level of pain due to SCD, the extent to which that pain interferes with daily activities, and how they seek and obtain pain relief. Results: Responses were received from 39 participants (female: n = 28, 72%, male: n = 11, 28%; mean age: 31.6 (SD ± 13.7 years. Sickle cell disease pain significantly disrupts participants’ daily activities (62%, mood (72%, work (64% and sleep (69%. Prescription medicine was ineffective for 41% and about half (n = 19 sought alternate means of relief. Conclusion: Sickle cell disease pain is undertreated in the Caribbean, disrupts daily activities and affects quality of life by impinging on education, employment and marital status. Sickle cell disease and other types of pain can be clinically managed safely, effectively and inexpensively. By failing to palliate and overcome the problem of undertreated pain, healthcare systems and providers contribute to socio-economic amongst other repercussions for sufferers, their families and caregivers, and their nations.
Background: Individuals with sickle cell anaemia (SCA) have lower systemic blood pressures compared to individuals with haemoglobin Hb AA phenotype. Objective: To evaluate blood pressure indices of individuals with SCA in steady state, in comparison with haematological and clinical markers of disease severity.
Perceptions about Sickle Cell Disease and its Prevention among ... Methods Three hundred undergraduate students from Bayero University Kano and Federal ... about SCD prevention to youths in schools and through other media; as well as strengthen prenatal screening and premarital counseling and testing services.
Paediatric patients with SCD and congenital heart defects may require ... Patients with sickle cell disease (SCD) presenting for cardiac ... fluid, calculated according to body weight, was initiated. ... oxygen mixture and intravenous fentanyl (5–10 mcg/kg) and .... erythropoiesis, and in this way reduces HbS production.
Background : Sickle cell anaemia (SCA) is an important cause of morbidity and mortality in tropical Africa. Recurrent episodes of vaso-occlusive crisis often lead to organ ischaemia and/or infarction. Arrythmias are common and reliable manifestations of myocardial ischaemia and often follow infarction. The prevalence and ...
Background: The clinical prospects of hydroxyurea therapy in the management of sickle cell disease (SCD) require evaluation in the Nigerian setting to develop indigenous guidelines. This survey examines the pattern of hydroxyurea therapy, its clinico-haematologic benefits and safety profile in Nigerian SCD subjects.
Blood donation from sickle cell trait (SCT) and glucose-6-phosphate dehydrogenase (G6PD)-deficient donors might alter the quality of the donated blood during processing, storage or in the recipients' circulatory system. The aim of this study was to determine the prevalence of SCT and G6PD deficiency among blood ...
We report three children with sickle cell anaemia presenting with chronic massive splenomegaly and hypersplenism. The children were initially denied surgery because of extremely low haemoglobin levels and the inefficacy of transfusion. Subsequently, they underwent successful open abdominal splenectomy without any ...
Jun 1, 2015 ... of its use in the management of pain in this disorder is an issue of debate ... the use of opioid in chronic sickle cell pain and provide alternatives and a suitable guideline .... McCarberg B, Stantos S. Key patient assessment tools and treatment strategies for pain manage- ment. ... R Coll Surg Edinburgh. 1980 ...
SMID, WM; BREUKELMAN, F; KONINGS, JG; DAENEN, S
Pyomyositis is a pyogenic infection of muscle, leading to abscess formation. Pyomyositis is frequent in tropical areas but uncommon in areas with a temperate climate ; therefore, diagnosis can be difficult and can be delayed . Sickle cell disease (SCD) can be complicated by vascular occlusion
Aderibigbe, A; Arije, A; Akinkugbe, O O
An 8 month prospective study was carried out in 20 adult sickle cell disease (SCD) patients 16 sickle cell anaemia (Hbss) and 4 sickle cell Hbc disease (Hbsc); who had vaso-occlusive crises within the study period to determine the extent of the effect of sickle cell crisis on glomerular function in SCD patients during crisis. The male: female ratio was 1:57 and their mean age was 21.1 +/- 7.9 years. Creatinine clearance (CCr), as an index of glomerular function, was determined at the pre-crisis, crisis, 2 and 4 weeks post-crisis and at the end of the study period. The mean values of their CCr dropped from 113.37 +/- 33.80mls/min at pre-crisis stage to 96.39 +/- 30.13mls/min during crisis (p pre-crisis stage (p > 0.05). It is concluded that glomerular dysfunction in SCD patients during crisis is potentially reversible.
Maishnam Rustam Singh
Dec 28, 2012 ... I read with concern the article by Shah et al.  entitled. 'Gene Frequency of Sickle Cell Trait among Muslim Popula- tions in a Malarial belt of India, i.e., Manipur' published in your esteemed journal. However, I found many ambiguities in it. I would like to make the following comments on this article.
Sickle cell disease (SCD) is the commonest inherited haemoglobinopathy. Its most common clinical manifestation is anemia due to chronic haemolysis. The occurrence of gallstones is one of the most important manifestations of SCD in the digestive tract1, 2, 3, 4, 5. Excessive production of bilirubin from chronic haemolysis ...
Autopsy findings in sickle cell disease patients in Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria. ... The study showed that the most common cause of sudden death was anemia-related (50%) while 21% were due to acute infections, 18.4 % were due to cardiovascular events and 4.6% were due to ...
Stroke is a devastating and potentially fatal complication of sickle cell disease. The highest incidence of cerebrovascular disease is in the first 10 years and especially between 2 to 5 years. Two types of stroke occur in these patients – infarctive and hemorrhagic strokes. While infarctive strokes occur frequently in children, ...
Eleven (2.4%) were Sickle Cell-HbC disease, median age 14 years. Patients demonstrated many of the typical features of SCD. The most common reason for hospital admission was bone pain crisis associated with an infection, followed by severe anemia. Aseptic necrosis of the femoral head, leg ulcers, septic osteomyelitis ...
Using the sensitive ELISA technique, 213 patients with sickle cell anemia (112 males and 101 females) aged 6 months to 18 years were screened for Hepatitis B infection using Hepatitis B surface antigen (HBsAg) and antibody to Hepatitis B core antigen. A biochemical evaluation of liver function was carried out on all ...